NM_006393.3(NEBL):c.604G>A (p.Gly202Arg)
|
rs137973321
|
0.00210
|
NM_006393.3(NEBL):c.908A>G (p.Glu303Gly)
|
rs139610204
|
0.00036
|
NM_006393.3(NEBL):c.827T>C (p.Met276Thr)
|
rs141285752
|
0.00033
|
NM_006393.3(NEBL):c.682C>G (p.Gln228Glu)
|
rs143644290
|
0.00030
|
NM_006393.3(NEBL):c.82-4A>G
|
rs368268112
|
0.00021
|
NM_006393.3(NEBL):c.2417C>T (p.Thr806Ile)
|
rs200705273
|
0.00020
|
NM_006393.3(NEBL):c.1837C>T (p.Arg613Ter)
|
rs146471913
|
0.00019
|
NM_006393.3(NEBL):c.1227+5G>A
|
rs370026081
|
0.00014
|
NM_006393.3(NEBL):c.214C>A (p.Pro72Thr)
|
rs150000482
|
0.00012
|
NM_006393.3(NEBL):c.1652C>T (p.Thr551Ile)
|
rs191012363
|
0.00009
|
NM_006393.3(NEBL):c.1540G>T (p.Ala514Ser)
|
rs781572930
|
0.00008
|
NM_006393.3(NEBL):c.1946A>G (p.Gln649Arg)
|
rs770416802
|
0.00008
|
NM_006393.3(NEBL):c.1225G>A (p.Glu409Lys)
|
rs767565380
|
0.00006
|
NM_006393.3(NEBL):c.1721T>C (p.Ile574Thr)
|
rs754884291
|
0.00006
|
NM_006393.3(NEBL):c.326T>C (p.Ile109Thr)
|
rs371620771
|
0.00006
|
NM_006393.3(NEBL):c.1108C>A (p.Gln370Lys)
|
rs146198369
|
0.00004
|
NM_006393.3(NEBL):c.1316G>A (p.Arg439Gln)
|
rs755916272
|
0.00004
|
NM_006393.3(NEBL):c.1997C>T (p.Pro666Leu)
|
rs771905060
|
0.00004
|
NM_006393.3(NEBL):c.625G>A (p.Ala209Thr)
|
rs142138590
|
0.00004
|
NM_006393.3(NEBL):c.872A>G (p.His291Arg)
|
rs147853594
|
0.00004
|
NM_006393.3(NEBL):c.1639C>T (p.Arg547Ter)
|
rs149647815
|
0.00003
|
NM_006393.3(NEBL):c.2644C>T (p.Arg882Ter)
|
rs151012132
|
0.00003
|
NM_006393.3(NEBL):c.798+1G>A
|
rs746179839
|
0.00003
|
NM_006393.3(NEBL):c.16T>C (p.Phe6Leu)
|
rs777445403
|
0.00002
|
NM_006393.3(NEBL):c.1608G>T (p.Met536Ile)
|
rs794729078
|
0.00001
|
NM_006393.3(NEBL):c.1613T>A (p.Val538Glu)
|
rs534382445
|
0.00001
|
NM_006393.3(NEBL):c.1776G>A (p.Ala592=)
|
rs113406843
|
0.00001
|
NM_006393.3(NEBL):c.2704G>A (p.Glu902Lys)
|
rs761425280
|
0.00001
|
NM_006393.3(NEBL):c.2914G>A (p.Glu972Lys)
|
rs1554769095
|
0.00001
|
NM_006393.3(NEBL):c.676T>C (p.Ser226Pro)
|
rs768861339
|
0.00001
|
GRCh37/hg19 10p12.31(chr10:20648237-21129533)x3
|
|
|
GRCh37/hg19 10p12.31(chr10:21159723-21284409)x3
|
|
|
GRCh37/hg19 10p12.31(chr10:21164208-21184413)x3
|
|
|
NM_006393.3(NEBL):c.1156dup (p.Arg386fs)
|
rs1554784067
|
|
NM_006393.3(NEBL):c.1174G>A (p.Asp392Asn)
|
rs1588767821
|
|
NM_006393.3(NEBL):c.1365_1366del (p.Ile456fs)
|
rs1554781158
|
|
NM_006393.3(NEBL):c.1377G>T (p.Gly459=)
|
rs1310607610
|
|
NM_006393.3(NEBL):c.1475C>G (p.Thr492Ser)
|
rs1299663441
|
|
NM_006393.3(NEBL):c.1640G>A (p.Arg547Gln)
|
rs747238199
|
|
NM_006393.3(NEBL):c.1775C>A (p.Ala592Glu)
|
rs146275785
|
|
NM_006393.3(NEBL):c.1790A>C (p.Lys597Thr)
|
|
|
NM_006393.3(NEBL):c.2241+1G>A
|
|
|
NM_006393.3(NEBL):c.2271G>A (p.Met757Ile)
|
rs794729079
|
|
NM_006393.3(NEBL):c.2612-6A>G
|
rs377317796
|
|
NM_006393.3(NEBL):c.276del (p.Ile93fs)
|
rs1554799292
|
|
NM_006393.3(NEBL):c.348dup (p.Val117fs)
|
rs1356025751
|
|
NM_006393.3(NEBL):c.383A>G (p.Gln128Arg)
|
rs139809958
|
|
NM_006393.3(NEBL):c.383A>T (p.Gln128Leu)
|
rs139809958
|
|
NM_006393.3(NEBL):c.658G>A (p.Val220Met)
|
rs571563897
|
|
NM_006393.3(NEBL):c.67_72del (p.Asn23_Glu24del)
|
rs778962398
|
|