ClinVar Miner

List of variants in gene NEBL

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 388
Download table as spreadsheet
HGVS dbSNP
GRCh37/hg19 10p12.31(chr10:20648237-21129533)x3
GRCh37/hg19 10p12.31(chr10:21159723-21284409)x3
GRCh37/hg19 10p12.31(chr10:21164208-21184413)x3
GRCh38/hg38 10p12.31(chr10:20906254-20910631)x1
NC_000010.10:g.(?_21117439)_(21117583_?)del
NC_000010.10:g.(?_21129648)_(21129798_?)del
NC_000010.11:g.20787587del
NC_000010.11:g.20852512del
NM_006393.2(NEBL):c.(?_1228)-240_(1338_?)+281del
NM_213569.2(NEBL):c.*4T>A rs727504947
NM_213569.2(NEBL):c.-7C>T rs141707642
NM_213569.2(NEBL):c.125A>G (p.Asn42Ser) rs727503340
NM_213569.2(NEBL):c.164+80C>T
NM_213569.2(NEBL):c.165-6C>G rs201869237
NM_213569.2(NEBL):c.204A>T (p.Thr68=) rs563150056
NM_213569.2(NEBL):c.250-10T>G rs727503339
NM_213569.2(NEBL):c.250-214A>G
NM_213569.2(NEBL):c.250-215T>G
NM_213569.2(NEBL):c.305C>T (p.Thr102Met) rs377492976
NM_213569.2(NEBL):c.357+285A>G
NM_213569.2(NEBL):c.357+63739C>T
NM_213569.2(NEBL):c.357+63863C>T
NM_213569.2(NEBL):c.357+64417G>T rs1426428551
NM_213569.2(NEBL):c.357+64420C>T rs368463931
NM_213569.2(NEBL):c.357+64447A>G rs766280453
NM_213569.2(NEBL):c.357+64458A>G rs772236141
NM_213569.2(NEBL):c.357+64468T>C rs972622200
NM_213569.2(NEBL):c.357+64477C>T rs114918858
NM_213569.2(NEBL):c.357+64480T>C rs145770601
NM_213569.2(NEBL):c.357+64482T>C rs777445403
NM_213569.2(NEBL):c.357+64493A>C rs536400111
NM_213569.2(NEBL):c.357+64514A>G rs967421212
NM_213569.2(NEBL):c.357+64522G>A rs727503338
NM_213569.2(NEBL):c.357+64523G>C rs764290131
NM_213569.2(NEBL):c.357+64533_357+64538del rs778962398
NM_213569.2(NEBL):c.357+64535T>C rs746405718
NM_213569.2(NEBL):c.357+64541_357+64543del rs794729080
NM_213569.2(NEBL):c.357+64639A>G rs368268112
NM_213569.2(NEBL):c.357+64657T>C
NM_213569.2(NEBL):c.357+64664G>A rs878854902
NM_213569.2(NEBL):c.357+64670T>C rs140734883
NM_213569.2(NEBL):c.357+64670_357+64671del rs762005342
NM_213569.2(NEBL):c.357+64674G>T
NM_213569.2(NEBL):c.357+64681A>G rs397517203
NM_213569.2(NEBL):c.357+64711C>T rs1465019438
NM_213569.2(NEBL):c.357+64722G>C
NM_213569.2(NEBL):c.357+64729T>G rs397517204
NM_213569.2(NEBL):c.357+64780T>G
NM_213569.2(NEBL):c.357+64940C>T
NM_213569.2(NEBL):c.357+71441T>A
NM_213569.2(NEBL):c.357+71569T>C
NM_213569.2(NEBL):c.357+71674A>T
NM_213569.2(NEBL):c.357+71712C>A rs41277376
NM_213569.2(NEBL):c.357+71713T>C rs1057521303
NM_213569.2(NEBL):c.357+71749G>C rs41277374
NM_213569.2(NEBL):c.357+71751C>T rs543765307
NM_213569.2(NEBL):c.357+71760A>G rs71578975
NM_213569.2(NEBL):c.357+71774A>G rs780384504
NM_213569.2(NEBL):c.357+71783C>A rs150000482
NM_213569.2(NEBL):c.357+71787T>C
NM_213569.2(NEBL):c.357+71797T>C rs1057523090
NM_213569.2(NEBL):c.357+71809C>T rs727503337
NM_213569.2(NEBL):c.357+71810G>A
NM_213569.2(NEBL):c.357+71811G>A rs1442801795
NM_213569.2(NEBL):c.357+71811G>C rs1442801795
NM_213569.2(NEBL):c.357+71824T>C rs727504471
NM_213569.2(NEBL):c.357+71828G>A rs139581346
NM_213569.2(NEBL):c.357+72010A>C
NM_213569.2(NEBL):c.357+72027C>T
NM_213569.2(NEBL):c.357+72071T>C
NM_213569.2(NEBL):c.357+73444_357+73450delinsCCTGG rs1554799332
NM_213569.2(NEBL):c.357+73449dup rs57918610
NM_213569.2(NEBL):c.357+73452T>G rs923819811
NM_213569.2(NEBL):c.357+73457T>C
NM_213569.2(NEBL):c.357+73457del rs57918610
NM_213569.2(NEBL):c.357+73458C>G
NM_213569.2(NEBL):c.357+73465G>A rs368856187
NM_213569.2(NEBL):c.357+73473C>G rs147622517
NM_213569.2(NEBL):c.357+73482C>T rs1256058724
NM_213569.2(NEBL):c.357+73482del rs1554799292
NM_213569.2(NEBL):c.357+73483A>G rs762884881
NM_213569.2(NEBL):c.357+73500T>A
NM_213569.2(NEBL):c.357+73506T>C
NM_213569.2(NEBL):c.357+73532T>C rs371620771
NM_213569.2(NEBL):c.357+73546G>T
NM_213569.2(NEBL):c.357+73553dup rs1356025751
NM_213569.2(NEBL):c.357+73573G>A rs189440246
NM_213569.2(NEBL):c.357+73580G>A rs200249470
NM_213569.2(NEBL):c.357+73593T>C rs771142727
NM_213569.2(NEBL):c.357+73656C>T
NM_213569.2(NEBL):c.357+73841G>A
NM_213569.2(NEBL):c.357T>C (p.Asn119=) rs115708584
NM_213569.2(NEBL):c.358-10018G>A
NM_213569.2(NEBL):c.358-1001A>G rs200574474
NM_213569.2(NEBL):c.358-10055T>C
NM_213569.2(NEBL):c.358-1016C>T rs752922937
NM_213569.2(NEBL):c.358-1022del rs776502857
NM_213569.2(NEBL):c.358-10242T>A
NM_213569.2(NEBL):c.358-10254T>G rs1292029849
NM_213569.2(NEBL):c.358-10261A>G rs371630900
NM_213569.2(NEBL):c.358-10268T>A rs4748728
NM_213569.2(NEBL):c.358-10276A>C rs200756166
NM_213569.2(NEBL):c.358-10284A>G rs770416802
NM_213569.2(NEBL):c.358-10297G>A
NM_213569.2(NEBL):c.358-10302del rs754334553
NM_213569.2(NEBL):c.358-10324A>G rs1564356559
NM_213569.2(NEBL):c.358-10326C>T rs727503335
NM_213569.2(NEBL):c.358-10337A>G
NM_213569.2(NEBL):c.358-10352C>T rs551329782
NM_213569.2(NEBL):c.358-10360G>C
NM_213569.2(NEBL):c.358-1038T>C rs144815863
NM_213569.2(NEBL):c.358-1058C>G rs768389033
NM_213569.2(NEBL):c.358-1074G>A rs794729079
NM_213569.2(NEBL):c.358-1085C>G rs876661379
NM_213569.2(NEBL):c.358-13463A>G
NM_213569.2(NEBL):c.358-13499C>G rs188529864
NM_213569.2(NEBL):c.358-13515A>G rs79718972
NM_213569.2(NEBL):c.358-13538G>A rs151035799
NM_213569.2(NEBL):c.358-13539C>A rs146471913
NM_213569.2(NEBL):c.358-13539C>T rs146471913
NM_213569.2(NEBL):c.358-13542G>A rs778658096
NM_213569.2(NEBL):c.358-13549A>G
NM_213569.2(NEBL):c.358-13739T>G
NM_213569.2(NEBL):c.358-1405G>T
NM_213569.2(NEBL):c.358-1410G>A
NM_213569.2(NEBL):c.358-15572C>G rs373474665
NM_213569.2(NEBL):c.358-15575C>G rs373748632
NM_213569.2(NEBL):c.358-15590G>A rs113406843
NM_213569.2(NEBL):c.358-15591C>A rs146275785
NM_213569.2(NEBL):c.358-15591C>T rs146275785
NM_213569.2(NEBL):c.358-15638T>C rs1528182
NM_213569.2(NEBL):c.358-15645T>C rs754884291
NM_213569.2(NEBL):c.358-15670A>C rs1060503680
NM_213569.2(NEBL):c.358-15689G>T
NM_213569.2(NEBL):c.358-15697T>C rs1554779376
NM_213569.2(NEBL):c.358-17968T>C
NM_213569.2(NEBL):c.358-18152A>G
NM_213569.2(NEBL):c.358-18244A>C rs77445663
NM_213569.2(NEBL):c.358-18247T>C rs10491056
NM_213569.2(NEBL):c.358-18252G>A rs528164655
NM_213569.2(NEBL):c.358-18260G>C
NM_213569.2(NEBL):c.358-18275C>T rs191012363
NM_213569.2(NEBL):c.358-18287G>A
NM_213569.2(NEBL):c.358-18288C>T rs149647815
NM_213569.2(NEBL):c.358-18295T>C rs1308048675
NM_213569.2(NEBL):c.358-18310del rs727504917
NM_213569.2(NEBL):c.358-18314T>A rs534382445
NM_213569.2(NEBL):c.358-18319G>T rs794729078
NM_213569.2(NEBL):c.358-18330G>A
NM_213569.2(NEBL):c.358-18458C>T
NM_213569.2(NEBL):c.358-18523C>A rs753190648
NM_213569.2(NEBL):c.358-18547G>A rs45461595
NM_213569.2(NEBL):c.358-18552C>T rs1256153819
NM_213569.2(NEBL):c.358-18553G>T rs781572930
NM_213569.2(NEBL):c.358-18597T>G rs727504620
NM_213569.2(NEBL):c.358-18618C>G rs1299663441
NM_213569.2(NEBL):c.358-18647G>A
NM_213569.2(NEBL):c.358-18652T>G rs45628140
NM_213569.2(NEBL):c.358-22383A>G
NM_213569.2(NEBL):c.358-22559G>A rs373699154
NM_213569.2(NEBL):c.358-22580C>T
NM_213569.2(NEBL):c.358-22621C>G rs769479569
NM_213569.2(NEBL):c.358-22645G>T rs1310607610
NM_213569.2(NEBL):c.358-22657_358-22656del rs1554781158
NM_213569.2(NEBL):c.358-22703T>C rs370957821
NM_213569.2(NEBL):c.358-2668A>G rs368494211
NM_213569.2(NEBL):c.358-2686C>T
NM_213569.2(NEBL):c.358-2694T>C
NM_213569.2(NEBL):c.358-2720G>T rs780056247
NM_213569.2(NEBL):c.358-2744A>G rs71535732
NM_213569.2(NEBL):c.358-2750G>A rs397517205
NM_213569.2(NEBL):c.358-27719A>G
NM_213569.2(NEBL):c.358-2771T>G rs1427758049
NM_213569.2(NEBL):c.358-27821G>A rs755916272
NM_213569.2(NEBL):c.358-27826A>G rs901799820
NM_213569.2(NEBL):c.358-2782G>A rs71578956
NM_213569.2(NEBL):c.358-27835C>G rs202112717
NM_213569.2(NEBL):c.358-27858C>T
NM_213569.2(NEBL):c.358-27865A>G rs727504866
NM_213569.2(NEBL):c.358-27868A>G rs138932199
NM_213569.2(NEBL):c.358-27879A>G rs761905318
NM_213569.2(NEBL):c.358-27882G>T rs201103536
NM_213569.2(NEBL):c.358-27884del rs768079285
NM_213569.2(NEBL):c.358-2788T>C rs369297283
NM_213569.2(NEBL):c.358-27912T>C
NM_213569.2(NEBL):c.358-27916C>T rs200231082
NM_213569.2(NEBL):c.358-28012G>T
NM_213569.2(NEBL):c.358-2825T>A
NM_213569.2(NEBL):c.358-2963C>T
NM_213569.2(NEBL):c.358-32313G>A rs370026081
NM_213569.2(NEBL):c.358-32320G>A rs767565380
NM_213569.2(NEBL):c.358-32337T>C
NM_213569.2(NEBL):c.358-32338A>G rs200534792
NM_213569.2(NEBL):c.358-32340A>C rs375569591
NM_213569.2(NEBL):c.358-32371G>A
NM_213569.2(NEBL):c.358-32390dup rs1554784067
NM_213569.2(NEBL):c.358-32413G>C rs41277370
NM_213569.2(NEBL):c.358-32434T>G rs71578938
NM_213569.2(NEBL):c.358-37463C>A rs146198369
NM_213569.2(NEBL):c.358-37483C>T rs747086170
NM_213569.2(NEBL):c.358-37520A>G rs4025981
NM_213569.2(NEBL):c.358-37534del
NM_213569.2(NEBL):c.358-37543A>G rs876657925
NM_213569.2(NEBL):c.358-37659C>T
NM_213569.2(NEBL):c.358-37814T>A
NM_213569.2(NEBL):c.358-39529C>T
NM_213569.2(NEBL):c.358-39587C>T rs75903914
NM_213569.2(NEBL):c.358-39590G>A rs375728589
NM_213569.2(NEBL):c.358-39591C>T rs369037243
NM_213569.2(NEBL):c.358-39597C>G rs376842299
NM_213569.2(NEBL):c.358-39600A>G rs703089
NM_213569.2(NEBL):c.358-39601C>T rs71534253
NM_213569.2(NEBL):c.358-39601_358-39600inv
NM_213569.2(NEBL):c.358-39610A>C rs771769135
NM_213569.2(NEBL):c.358-39619G>A rs150518045
NM_213569.2(NEBL):c.358-39620C>T
NM_213569.2(NEBL):c.358-39624A>G rs876657927
NM_213569.2(NEBL):c.358-39627G>T rs776185255
NM_213569.2(NEBL):c.358-39705A>G rs139610204
NM_213569.2(NEBL):c.358-39709C>T rs149737043
NM_213569.2(NEBL):c.358-39983G>C
NM_213569.2(NEBL):c.358-4451A>G
NM_213569.2(NEBL):c.358-45040C>T
NM_213569.2(NEBL):c.358-45274G>A
NM_213569.2(NEBL):c.358-45298del
NM_213569.2(NEBL):c.358-45299G>T rs775057540
NM_213569.2(NEBL):c.358-45302G>A rs773469997
NM_213569.2(NEBL):c.358-45331A>G rs147853594
NM_213569.2(NEBL):c.358-45342_358-45340del
NM_213569.2(NEBL):c.358-45346T>A rs752717041
NM_213569.2(NEBL):c.358-45366A>G
NM_213569.2(NEBL):c.358-45376T>C rs141285752
NM_213569.2(NEBL):c.358-45377A>G rs1373986579
NM_213569.2(NEBL):c.358-45396C>G
NM_213569.2(NEBL):c.358-45501A>T
NM_213569.2(NEBL):c.358-45549C>T
NM_213569.2(NEBL):c.358-45651A>G
NM_213569.2(NEBL):c.358-45656A>G
NM_213569.2(NEBL):c.358-45742T>G
NM_213569.2(NEBL):c.358-46536G>T
NM_213569.2(NEBL):c.358-4656T>C rs193163659
NM_213569.2(NEBL):c.358-4669C>T
NM_213569.2(NEBL):c.358-46715G>T
NM_213569.2(NEBL):c.358-46772G>A rs746179839
NM_213569.2(NEBL):c.358-46779G>A rs375771045
NM_213569.2(NEBL):c.358-46780C>T rs548922223
NM_213569.2(NEBL):c.358-46794T>G
NM_213569.2(NEBL):c.358-46851G>A
NM_213569.2(NEBL):c.358-46856A>G rs1037792824
NM_213569.2(NEBL):c.358-46862A>G
NM_213569.2(NEBL):c.358-4704C>T rs780795108
NM_213569.2(NEBL):c.358-4707C>A rs371551337
NM_213569.2(NEBL):c.358-47146G>C
NM_213569.2(NEBL):c.358-47191T>A
NM_213569.2(NEBL):c.358-4728C>T rs114875104
NM_213569.2(NEBL):c.358-4751T>C rs74120667
NM_213569.2(NEBL):c.358-4765T>G rs727504473
NM_213569.2(NEBL):c.358-55623A>G
NM_213569.2(NEBL):c.358-55726C>G rs143644290
NM_213569.2(NEBL):c.358-55732T>C rs768861339
NM_213569.2(NEBL):c.358-55738A>G rs148079637
NM_213569.2(NEBL):c.358-55750G>A rs571563897
NM_213569.2(NEBL):c.358-55752C>A rs2296610
NM_213569.2(NEBL):c.358-55783G>A rs142138590
NM_213569.2(NEBL):c.358-55783G>T rs142138590
NM_213569.2(NEBL):c.358-55784C>T rs111854914
NM_213569.2(NEBL):c.358-55794A>G rs794729077
NM_213569.2(NEBL):c.358-55804G>A rs137973321
NM_213569.2(NEBL):c.358-55809G>C rs727503336
NM_213569.2(NEBL):c.358-56629G>T
NM_213569.2(NEBL):c.358-56791T>C rs185873503
NM_213569.2(NEBL):c.358-56821G>C rs75301590
NM_213569.2(NEBL):c.358-56847C>T rs370153729
NM_213569.2(NEBL):c.358-56848C>T rs374344424
NM_213569.2(NEBL):c.358-56859G>A rs71541562
NM_213569.2(NEBL):c.358-56873C>T rs1564404256
NM_213569.2(NEBL):c.358-56879A>T rs730880171
NM_213569.2(NEBL):c.358-56884C>T rs371105861
NM_213569.2(NEBL):c.358-56886G>C rs780036701
NM_213569.2(NEBL):c.358-56893T>C rs141153708
NM_213569.2(NEBL):c.358-57058A>C
NM_213569.2(NEBL):c.358-6378G>A
NM_213569.2(NEBL):c.358-6476G>A
NM_213569.2(NEBL):c.358-6477C>A rs368793318
NM_213569.2(NEBL):c.358-6484G>A
NM_213569.2(NEBL):c.358-6485C>T rs146218038
NM_213569.2(NEBL):c.358-6495C>T rs763512999
NM_213569.2(NEBL):c.358-6498G>A rs1060503679
NM_213569.2(NEBL):c.358-6508G>A rs1006363
NM_213569.2(NEBL):c.358-6523G>A rs757626106
NM_213569.2(NEBL):c.358-6526G>A rs781677922
NM_213569.2(NEBL):c.358-6527C>T rs770107953
NM_213569.2(NEBL):c.358-6542C>T rs771905060
NM_213569.2(NEBL):c.358-6561C>A rs11012351
NM_213569.2(NEBL):c.358-6579C>T rs727504683
NM_213569.2(NEBL):c.358-6589C>T rs727504904
NM_213569.2(NEBL):c.358-67839_358-67838del rs1064794541
NM_213569.2(NEBL):c.358-67843G>A rs769167750
NM_213569.2(NEBL):c.358-67844C>A rs377230358
NM_213569.2(NEBL):c.358-67844C>T rs377230358
NM_213569.2(NEBL):c.358-67851A>G rs71578983
NM_213569.2(NEBL):c.358-67884T>C
NM_213569.2(NEBL):c.358-67896T>C rs780880217
NM_213569.2(NEBL):c.358-67899C>T
NM_213569.2(NEBL):c.358-67929A>C
NM_213569.2(NEBL):c.358-67951A>G rs139809958
NM_213569.2(NEBL):c.358-67951A>T rs139809958
NM_213569.2(NEBL):c.358-68192A>G
NM_213569.2(NEBL):c.358-6837A>G
NM_213569.2(NEBL):c.358-980A>G rs376097780
NM_213569.2(NEBL):c.358-993G>A rs201822024
NM_213569.2(NEBL):c.358-9C>T rs750957531
NM_213569.2(NEBL):c.376T>A (p.Phe126Ile) rs1564345984
NM_213569.2(NEBL):c.402T>G (p.Phe134Leu) rs1060503681
NM_213569.2(NEBL):c.406C>T (p.Pro136Ser)
NM_213569.2(NEBL):c.408C>T (p.Pro136=) rs766216481
NM_213569.2(NEBL):c.409G>A (p.Val137Ile) rs367986765
NM_213569.2(NEBL):c.412G>A (p.Val138Met) rs772136984
NM_213569.2(NEBL):c.417C>T (p.Asp139=)
NM_213569.2(NEBL):c.423T>C (p.Pro141=) rs749572741
NM_213569.2(NEBL):c.428C>T (p.Thr143Ile) rs200705273
NM_213569.2(NEBL):c.456G>A (p.Val152=) rs578252294
NM_213569.2(NEBL):c.484C>T (p.His162Tyr) rs1554774990
NM_213569.2(NEBL):c.486C>T (p.His162=) rs727503334
NM_213569.2(NEBL):c.493A>G (p.Ile165Val) rs143930021
NM_213569.2(NEBL):c.495C>T (p.Ile165=) rs1315850585
NM_213569.2(NEBL):c.496G>A (p.Val166Met) rs727504979
NM_213569.2(NEBL):c.510G>T (p.Arg170Ser) rs727505285
NM_213569.2(NEBL):c.529+10C>A
NM_213569.2(NEBL):c.529+10C>T rs747607700
NM_213569.2(NEBL):c.529+14G>A rs551568597
NM_213569.2(NEBL):c.529+20C>T rs755901579
NM_213569.2(NEBL):c.529+2662G>T
NM_213569.2(NEBL):c.529+275A>G
NM_213569.2(NEBL):c.529+2869del
NM_213569.2(NEBL):c.529+2885C>T rs776914197
NM_213569.2(NEBL):c.529+2899C>T rs180850975
NM_213569.2(NEBL):c.529+2940C>G rs150152361
NM_213569.2(NEBL):c.529+3050del
NM_213569.2(NEBL):c.529+3929T>C
NM_213569.2(NEBL):c.529+4099C>T rs200934881
NM_213569.2(NEBL):c.529+4114G>T rs869025491
NM_213569.2(NEBL):c.529+4117G>A rs140803920
NM_213569.2(NEBL):c.529+4142C>T rs151012132
NM_213569.2(NEBL):c.529+4143G>A rs758877499
NM_213569.2(NEBL):c.529+4143G>T rs758877499
NM_213569.2(NEBL):c.529+4152C>T rs143584663
NM_213569.2(NEBL):c.529+4165C>T rs780103943
NM_213569.2(NEBL):c.529+4171A>G rs202127185
NM_213569.2(NEBL):c.529+4179G>A rs876657926
NM_213569.2(NEBL):c.529+4183C>T rs140245727
NM_213569.2(NEBL):c.529+4202G>A rs761425280
NM_213569.2(NEBL):c.529+4216C>A rs768402237
NM_213569.2(NEBL):c.529+4222A>T rs146673676
NM_213569.2(NEBL):c.529+4235G>A rs1564341986
NM_213569.2(NEBL):c.529+4238A>T rs1369499702
NM_213569.2(NEBL):c.529+4245C>T rs143149169
NM_213569.2(NEBL):c.529+4246G>T rs778128527
NM_213569.2(NEBL):c.529+4255A>G rs878854903
NM_213569.2(NEBL):c.529+4259G>C rs1057518516
NM_213569.2(NEBL):c.529+4274C>T rs760162209
NM_213569.2(NEBL):c.529+4486C>G
NM_213569.2(NEBL):c.529+4539T>A
NM_213569.2(NEBL):c.529+4577C>T
NM_213569.2(NEBL):c.530-263T>A
NM_213569.2(NEBL):c.530-64T>A
NM_213569.2(NEBL):c.530-70G>A
NM_213569.2(NEBL):c.530-7C>T
NM_213569.2(NEBL):c.543C>T (p.Pro181=) rs199887353
NM_213569.2(NEBL):c.588C>T (p.His196=) rs532565487
NM_213569.2(NEBL):c.609G>A (p.Met203Ile) rs745574506
NM_213569.2(NEBL):c.615A>T (p.Ser205=) rs1060504994
NM_213569.2(NEBL):c.636+31G>T
NM_213569.2(NEBL):c.636+9C>T rs377236750
NM_213569.2(NEBL):c.637-10C>G rs373167913
NM_213569.2(NEBL):c.637-232C>G
NM_213569.2(NEBL):c.657C>T (p.Tyr219=) rs202184399
NM_213569.2(NEBL):c.65A>T (p.Asp22Val) rs727503341
NM_213569.2(NEBL):c.673G>T (p.Asp225Tyr)
NM_213569.2(NEBL):c.681C>T (p.Asp227=) rs575423101
NM_213569.2(NEBL):c.682G>A (p.Glu228Lys) rs1554769095
NM_213569.2(NEBL):c.69+15G>T rs377648518
NM_213569.2(NEBL):c.699C>T (p.Asp233=)
NM_213569.2(NEBL):c.70-18dup rs11413698
NM_213569.2(NEBL):c.711C>T (p.Ile237=)
NM_213569.2(NEBL):c.727A>G (p.Ile243Val) rs746298728
NM_213569.2(NEBL):c.732C>T (p.Asp244=) rs144946187
NM_213569.2(NEBL):c.765A>G (p.Thr255=) rs2296614

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