NM_000501.4(ELN):c.470-10C>G
|
rs200663056
|
0.00053
|
NM_000501.4(ELN):c.1697C>T (p.Ala566Val)
|
rs138876104
|
0.00043
|
NM_000501.4(ELN):c.326G>A (p.Gly109Asp)
|
rs145519139
|
0.00040
|
NM_000501.4(ELN):c.1358-225T>C
|
rs375867140
|
0.00036
|
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.1373C>A (p.Ala458Glu)
|
rs149117932
|
0.00021
|
NM_000501.4(ELN):c.1994-7T>G
|
rs375277198
|
0.00020
|
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.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.1043G>A (p.Gly348Glu)
|
rs186728715
|
0.00010
|
NM_000501.4(ELN):c.460G>A (p.Val154Met)
|
rs145669576
|
0.00010
|
NM_000501.4(ELN):c.1358-198G>A
|
rs192461213
|
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.1150+1G>A
|
rs727503030
|
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.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.145G>A (p.Gly49Arg)
|
rs144757453
|
0.00005
|
NM_000501.4(ELN):c.473C>T (p.Ala158Val)
|
rs201137255
|
0.00005
|
NM_000501.4(ELN):c.1363G>A (p.Gly455Arg)
|
rs782260475
|
0.00004
|
NM_000501.4(ELN):c.159A>T (p.Gly53=)
|
rs200810494
|
0.00004
|
NM_000501.4(ELN):c.164-2A>C
|
rs782096458
|
0.00004
|
NM_000501.4(ELN):c.2077C>T (p.Pro693Ser)
|
rs369804770
|
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.1943G>A (p.Gly648Glu)
|
rs140085632
|
0.00003
|
NM_000501.4(ELN):c.476G>A (p.Arg159Gln)
|
rs369045063
|
0.00003
|
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.1326G>C (p.Gln442His)
|
rs782734629
|
0.00002
|
NM_000501.4(ELN):c.1358-232G>C
|
rs782246342
|
0.00002
|
NM_000501.4(ELN):c.20C>T (p.Ala7Val)
|
rs559210020
|
0.00002
|
NM_000501.4(ELN):c.295G>A (p.Ala99Thr)
|
rs782660886
|
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.1150+2T>C
|
rs782126415
|
0.00001
|
NM_000501.4(ELN):c.1150G>A (p.Gly384Arg)
|
rs782359367
|
0.00001
|
NM_000501.4(ELN):c.1300G>A (p.Gly434Arg)
|
rs782630866
|
0.00001
|
NM_000501.4(ELN):c.1318G>A (p.Glu440Lys)
|
rs782409012
|
0.00001
|
NM_000501.4(ELN):c.1523G>A (p.Gly508Asp)
|
rs782398725
|
0.00001
|
NM_000501.4(ELN):c.1577-2A>T
|
rs1230920104
|
0.00001
|
NM_000501.4(ELN):c.1606G>T (p.Ala536Ser)
|
rs374253638
|
0.00001
|
NM_000501.4(ELN):c.1622-6C>T
|
rs1280128851
|
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.1849G>A (p.Gly617Ser)
|
rs781904032
|
0.00001
|
NM_000501.4(ELN):c.1873G>A (p.Ala625Thr)
|
rs1200675959
|
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.1994-2A>C
|
rs1440841207
|
0.00001
|
NM_000501.4(ELN):c.280G>C (p.Gly94Arg)
|
rs1554669275
|
0.00001
|
NM_000501.4(ELN):c.443G>A (p.Gly148Asp)
|
rs781952083
|
0.00001
|
NM_000501.4(ELN):c.686-5T>G
|
rs1583818052
|
0.00001
|
NM_000501.4(ELN):c.689A>T (p.Tyr230Phe)
|
rs1411516655
|
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
|
NM_000501.4(ELN):c.1034_1057dup (p.Gly345_Pro352dup)
|
rs2131923188
|
|
NM_000501.4(ELN):c.104G>A (p.Gly35Asp)
|
|
|
NM_000501.4(ELN):c.1073_1087del (p.Gly358_Ala362del)
|
|
|
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.1252G>C (p.Ala418Pro)
|
rs142438174
|
|
NM_000501.4(ELN):c.1264G>C (p.Gly422Arg)
|
rs2071307
|
|
NM_000501.4(ELN):c.1396G>A (p.Ala466Thr)
|
|
|
NM_000501.4(ELN):c.140G>C (p.Gly47Ala)
|
rs1554665826
|
|
NM_000501.4(ELN):c.1471G>A (p.Val491Met)
|
|
|
NM_000501.4(ELN):c.1488_1523del (p.Leu497_Gly508del)
|
rs782284755
|
|
NM_000501.4(ELN):c.1515_1550del (p.501VGVAPG[1])
|
rs782225994
|
|
NM_000501.4(ELN):c.1517G>T (p.Gly506Val)
|
|
|
NM_000501.4(ELN):c.152T>C (p.Leu51Pro)
|
|
|
NM_000501.4(ELN):c.1621+1G>A
|
rs782279081
|
|
NM_000501.4(ELN):c.1639G>A (p.Gly547Ser)
|
|
|
NM_000501.4(ELN):c.1683ACTTGGAGTTGGTGCTGGTGTTCCTGG[1] (p.562LGVGAGVPG[1])
|
rs782739997
|
|
NM_000501.4(ELN):c.1683ACTTGGAGTTGGTGCTGGTGTTCCTGG[3] (p.562LGVGAGVPG[3])
|
rs782739997
|
|
NM_000501.4(ELN):c.1741G>A (p.Gly581Arg)
|
|
|
NM_000501.4(ELN):c.1742G>A (p.Gly581Glu)
|
rs2132324152
|
|
NM_000501.4(ELN):c.1747+36G>A
|
|
|
NM_000501.4(ELN):c.1747+39C>T
|
|
|
NM_000501.4(ELN):c.1747+93C>A
|
rs1554683829
|
|
NM_000501.4(ELN):c.1747G>A (p.Val583Ile)
|
|
|
NM_000501.4(ELN):c.1778C>A (p.Ala593Asp)
|
rs1796553212
|
|
NM_000501.4(ELN):c.1781A>C (p.Lys594Thr)
|
rs782679448
|
|
NM_000501.4(ELN):c.1793C>T (p.Ala598Val)
|
|
|
NM_000501.4(ELN):c.1819G>A (p.Gly607Arg)
|
rs781963804
|
|
NM_000501.4(ELN):c.1823C>T (p.Ala608Val)
|
rs2132485409
|
|
NM_000501.4(ELN):c.1859G>C (p.Gly620Ala)
|
|
|
NM_000501.4(ELN):c.1862C>G (p.Ala621Gly)
|
rs1797109887
|
|
NM_000501.4(ELN):c.1869CGC[5] (p.Ala630dup)
|
rs1239601146
|
|
NM_000501.4(ELN):c.1884_1886del (p.Ala630del)
|
|
|
NM_000501.4(ELN):c.1894G>T (p.Ala632Ser)
|
|
|
NM_000501.4(ELN):c.1919-3C>G
|
rs782532851
|
|
NM_000501.4(ELN):c.1946G>C (p.Gly649Ala)
|
rs200041224
|
|
NM_000501.4(ELN):c.1956_1970del (p.648GGLGV[1])
|
rs782015142
|
|
NM_000501.4(ELN):c.1961G>A (p.Gly654Glu)
|
|
|
NM_000501.4(ELN):c.1993+1G>A
|
|
|
NM_000501.4(ELN):c.2068G>A (p.Gly690Arg)
|
|
|
NM_000501.4(ELN):c.2131+1G>A
|
|
|
NM_000501.4(ELN):c.2132-13_2132-11delinsAAA
|
rs2132826181
|
|
NM_000501.4(ELN):c.2132-7C>A
|
rs782755390
|
|
NM_000501.4(ELN):c.2134G>A (p.Gly712Arg)
|
rs1359856150
|
|
NM_000501.4(ELN):c.2171A>T (p.Lys724Ile)
|
|
|
NM_000501.4(ELN):c.251C>A (p.Ala84Glu)
|
|
|
NM_000501.4(ELN):c.26C>T (p.Pro9Leu)
|
|
|
NM_000501.4(ELN):c.28C>T (p.Arg10Trp)
|
|
|
NM_000501.4(ELN):c.328G>A (p.Ala110Thr)
|
rs137953195
|
|
NM_000501.4(ELN):c.328G>T (p.Ala110Ser)
|
rs137953195
|
|
NM_000501.4(ELN):c.352G>T (p.Val118Phe)
|
|
|
NM_000501.4(ELN):c.358G>A (p.Gly120Ser)
|
|
|
NM_000501.4(ELN):c.376+2T>C
|
|
|
NM_000501.4(ELN):c.425C>A (p.Pro142Gln)
|
rs1013508230
|
|
NM_000501.4(ELN):c.428-1G>C
|
|
|
NM_000501.4(ELN):c.440C>G (p.Pro147Arg)
|
|
|
NM_000501.4(ELN):c.463C>T (p.Leu155Phe)
|
rs1563789663
|
|
NM_000501.4(ELN):c.484G>A (p.Gly162Ser)
|
|
|
NM_000501.4(ELN):c.542-1G>T
|
|
|
NM_000501.4(ELN):c.571+7C>T
|
rs863223523
|
|
NM_000501.4(ELN):c.584T>C (p.Phe195Ser)
|
|
|
NM_000501.4(ELN):c.594G>A (p.Pro198=)
|
rs140337204
|
|
NM_000501.4(ELN):c.645T>A (p.Gly215=)
|
|
|
NM_000501.4(ELN):c.661T>C (p.Tyr221His)
|
|
|
NM_000501.4(ELN):c.665C>T (p.Thr222Ile)
|
|
|
NM_000501.4(ELN):c.673A>G (p.Lys225Glu)
|
|
|
NM_000501.4(ELN):c.698G>C (p.Gly233Ala)
|
|
|
NM_000501.4(ELN):c.761C>T (p.Ala254Val)
|
rs2131672723
|
|
NM_000501.4(ELN):c.762AGC[5] (p.Ala260dup)
|
rs782185396
|
|
NM_000501.4(ELN):c.785C>G (p.Ala262Gly)
|
rs2131673490
|
|
NM_000501.4(ELN):c.805G>A (p.Gly269Arg)
|
|
|
NM_000501.4(ELN):c.851G>A (p.Gly284Asp)
|
rs1287098263
|
|
NM_000501.4(ELN):c.906TGCAGC[1] (p.Ala308_Ala311del)
|
rs782133793
|
|
NM_000501.4(ELN):c.906TGCAGC[4] (p.Ala311_Lys312insAlaAla)
|
|
|
NM_000501.4(ELN):c.947A>G (p.Tyr316Cys)
|
rs2131858559
|
|