ClinVar Miner

List of variants in gene NEB reported as likely benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 557
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HGVS dbSNP
NC_000002.12:g.151563817A>G
NC_000002.12:g.151565618G>A
NM_001271208.1(NEB):c.-113-4delT rs962563454
NM_001271208.1(NEB):c.14827-10_14827-9delCT rs536426422
NM_001271208.1(NEB):c.19102-31_19102-30delAG rs774225336
NM_001271208.1(NEB):c.19207-20_19207-18delAAG rs768751352
NM_001271208.1(NEB):c.20467-4delT rs10687343
NM_001271208.1(NEB):c.2106+11delA rs1064794944
NM_001271208.1(NEB):c.2523+10_2523+17delGCCTGGGG rs1553564544
NM_001271208.1(NEB):c.3043-37_3043-33delCTTTA rs553020641
NM_001271208.1(NEB):c.5032-13dupT rs148862132
NM_001271208.1(NEB):c.5971-6dupT rs551520922
NM_001271208.2(NEB):c.-128T>G
NM_001271208.2(NEB):c.-24A>G rs1438185722
NM_001271208.2(NEB):c.10047C>T (p.Ser3349=) rs763268909
NM_001271208.2(NEB):c.10140C>T (p.Ser3380=) rs199870629
NM_001271208.2(NEB):c.10201T>A (p.Ser3401Thr) rs199847072
NM_001271208.2(NEB):c.10269G>A (p.Pro3423=) rs368719373
NM_001271208.2(NEB):c.10299C>G (p.Asp3433Glu) rs180847025
NM_001271208.2(NEB):c.10338T>C (p.Asn3446=) rs147569843
NM_001271208.2(NEB):c.10344C>T (p.Asn3448=) rs145052299
NM_001271208.2(NEB):c.10347+18A>G rs200915591
NM_001271208.2(NEB):c.10347+6C>T rs141088433
NM_001271208.2(NEB):c.1035+16C>A rs141976907
NM_001271208.2(NEB):c.1035+7G>A rs748388746
NM_001271208.2(NEB):c.10377C>T (p.Asp3459=) rs373823362
NM_001271208.2(NEB):c.10420T>C (p.Leu3474=) rs1057523427
NM_001271208.2(NEB):c.10434T>C (p.Asn3478=) rs375543045
NM_001271208.2(NEB):c.10452+9A>G rs117270796
NM_001271208.2(NEB):c.10560+10G>A rs1553915713
NM_001271208.2(NEB):c.1056T>C (p.Tyr352=) rs1057523282
NM_001271208.2(NEB):c.10578A>G (p.Ala3526=) rs760118695
NM_001271208.2(NEB):c.10608C>T (p.Gly3536=) rs144673752
NM_001271208.2(NEB):c.10609G>A (p.Ala3537Thr) rs556492694
NM_001271208.2(NEB):c.10653C>T (p.His3551=) rs369508429
NM_001271208.2(NEB):c.10675C>T (p.Arg3559Cys) rs751938843
NM_001271208.2(NEB):c.10707G>A (p.Lys3569=) rs6717213
NM_001271208.2(NEB):c.10744G>A (p.Val3582Ile) rs139798654
NM_001271208.2(NEB):c.10809G>C (p.Trp3603Cys) rs10172023
NM_001271208.2(NEB):c.10816C>T (p.Leu3606=) rs1188058379
NM_001271208.2(NEB):c.11004G>A (p.Thr3668=) rs117018177
NM_001271208.2(NEB):c.11025G>A (p.Thr3675=) rs199789085
NM_001271208.2(NEB):c.11043G>A (p.Val3681=) rs886038428
NM_001271208.2(NEB):c.11067C>T (p.Asn3689=) rs200427401
NM_001271208.2(NEB):c.11076+12A>G rs201250579
NM_001271208.2(NEB):c.11077-4G>T rs878924060
NM_001271208.2(NEB):c.11078G>A (p.Arg3693His) rs368915047
NM_001271208.2(NEB):c.11133T>C (p.Asp3711=) rs547109690
NM_001271208.2(NEB):c.11148G>C (p.Met3716Ile) rs149025191
NM_001271208.2(NEB):c.11165G>A (p.Arg3722Gln) rs757027644
NM_001271208.2(NEB):c.11199T>C (p.Ala3733=) rs756871030
NM_001271208.2(NEB):c.1152C>T (p.Asp384=)
NM_001271208.2(NEB):c.11709G>A (p.Arg3903=) rs570142622
NM_001271208.2(NEB):c.11729A>G (p.Asp3910Gly) rs35740585
NM_001271208.2(NEB):c.11769T>C (p.Ile3923=) rs80320923
NM_001271208.2(NEB):c.11806-7C>A rs779713133
NM_001271208.2(NEB):c.11850C>T (p.His3950=) rs777244382
NM_001271208.2(NEB):c.11911-17T>C rs144836165
NM_001271208.2(NEB):c.11915T>G (p.Leu3972Arg) rs769145449
NM_001271208.2(NEB):c.11971G>A (p.Ala3991Thr) rs368328716
NM_001271208.2(NEB):c.1206C>T (p.Cys402=) rs199695976
NM_001271208.2(NEB):c.12147G>A (p.Lys4049=) rs149639365
NM_001271208.2(NEB):c.12303A>C (p.Ala4101=) rs1553882764
NM_001271208.2(NEB):c.12316G>A (p.Asp4106Asn) rs192843524
NM_001271208.2(NEB):c.12330T>C (p.Asp4110=)
NM_001271208.2(NEB):c.12331-5T>C rs1171513278
NM_001271208.2(NEB):c.12369C>G (p.Ile4123Met) rs1277282343
NM_001271208.2(NEB):c.12382G>A (p.Glu4128Lys) rs1553877949
NM_001271208.2(NEB):c.12483C>T (p.Val4161=) rs876657539
NM_001271208.2(NEB):c.12497T>C (p.Val4166Ala)
NM_001271208.2(NEB):c.12511G>A (p.Ala4171Thr) rs1420479305
NM_001271208.2(NEB):c.12529A>T (p.Ser4177Cys) rs1553877493
NM_001271208.2(NEB):c.1257+13A>T rs75320668
NM_001271208.2(NEB):c.1258A>G (p.Lys420Glu) rs200298261
NM_001271208.2(NEB):c.12591T>C (p.Asp4197=) rs1553876898
NM_001271208.2(NEB):c.12636C>T (p.Ser4212=) rs1553876762
NM_001271208.2(NEB):c.12639+11C>T rs1057523954
NM_001271208.2(NEB):c.12667G>A (p.Ala4223Thr) rs12998234
NM_001271208.2(NEB):c.12717C>T (p.His4239=) rs1553875334
NM_001271208.2(NEB):c.12718G>A (p.Ala4240Thr) rs561736266
NM_001271208.2(NEB):c.12748-10A>G rs1553872572
NM_001271208.2(NEB):c.12770G>A (p.Arg4257His) rs576918934
NM_001271208.2(NEB):c.12808C>A (p.Gln4270Lys) rs1057524648
NM_001271208.2(NEB):c.12905A>T (p.Asn4302Ile) rs886038429
NM_001271208.2(NEB):c.12912G>A (p.Pro4304=) rs886038430
NM_001271208.2(NEB):c.12954C>G (p.Val4318=) rs1553871881
NM_001271208.2(NEB):c.12966C>T (p.Asp4322=) rs1334385911
NM_001271208.2(NEB):c.12970G>A (p.Asp4324Asn) rs1057523936
NM_001271208.2(NEB):c.12C>T (p.Asp4=) rs117178114
NM_001271208.2(NEB):c.13047C>T (p.Asp4349=) rs886038431
NM_001271208.2(NEB):c.13078C>G (p.Leu4360Val) rs761799512
NM_001271208.2(NEB):c.13081G>A (p.Glu4361Lys) rs202017360
NM_001271208.2(NEB):c.13105C>T (p.Leu4369=) rs147579763
NM_001271208.2(NEB):c.13175G>A (p.Arg4392His) rs772352938
NM_001271208.2(NEB):c.13218C>G (p.Thr4406=) rs1553867144
NM_001271208.2(NEB):c.13221G>A (p.Pro4407=) rs1240952464
NM_001271208.2(NEB):c.13248T>C (p.Ala4416=) rs1553866979
NM_001271208.2(NEB):c.13264-18G>A rs886038432
NM_001271208.2(NEB):c.13276G>A (p.Asp4426Asn) rs876657540
NM_001271208.2(NEB):c.13308C>T (p.Asn4436=) rs1553865962
NM_001271208.2(NEB):c.13353C>T (p.Ala4451=) rs774726264
NM_001271208.2(NEB):c.13362C>T (p.Ile4454=) rs1553865873
NM_001271208.2(NEB):c.13368+10_13368+11inv rs1553865853
NM_001271208.2(NEB):c.13368+11A>G rs112260335
NM_001271208.2(NEB):c.13368+6A>G rs886038433
NM_001271208.2(NEB):c.13369-9T>C rs1553865725
NM_001271208.2(NEB):c.13370A>C (p.Lys4457Thr) rs1057521174
NM_001271208.2(NEB):c.13376A>G (p.Tyr4459Cys) rs1057521523
NM_001271208.2(NEB):c.13456T>A (p.Ser4486Thr) rs886038434
NM_001271208.2(NEB):c.13476+16_13476+17insG rs1064794509
NM_001271208.2(NEB):c.13476+7G>A rs1553865548
NM_001271208.2(NEB):c.13476C>T (p.Asp4492=) rs876657541
NM_001271208.2(NEB):c.13477-9A>G rs1553862786
NM_001271208.2(NEB):c.13480C>T (p.Leu4494=) rs1462287804
NM_001271208.2(NEB):c.1350A>G (p.Thr450=) rs774227589
NM_001271208.2(NEB):c.13533C>T (p.Ser4511=) rs1168966918
NM_001271208.2(NEB):c.13534G>A (p.Ala4512Thr) rs886038435
NM_001271208.2(NEB):c.13573T>C (p.Leu4525=) rs1057523201
NM_001271208.2(NEB):c.13583A>C (p.Gln4528Pro) rs1553862590
NM_001271208.2(NEB):c.13596G>A (p.Leu4532=) rs886038436
NM_001271208.2(NEB):c.13598A>T (p.Tyr4533Phe) rs886038437
NM_001271208.2(NEB):c.13614C>T (p.Asn4538=) rs1250752053
NM_001271208.2(NEB):c.13615G>A (p.Asp4539Asn)
NM_001271208.2(NEB):c.13626C>G (p.Ala4542=) rs201225445
NM_001271208.2(NEB):c.13628A>C (p.Lys4543Thr) rs200125713
NM_001271208.2(NEB):c.13653G>A (p.Val4551=) rs1553862349
NM_001271208.2(NEB):c.1366-12T>G rs1057523429
NM_001271208.2(NEB):c.1366-4A>G rs886038438
NM_001271208.2(NEB):c.1366-7_1366-5del rs1317027054
NM_001271208.2(NEB):c.13661G>A (p.Ser4554Asn) rs1057522021
NM_001271208.2(NEB):c.13662C>T (p.Ser4554=) rs1553862322
NM_001271208.2(NEB):c.13680G>C (p.Gln4560His) rs886038439
NM_001271208.2(NEB):c.13706G>A (p.Arg4569His) rs1216367965
NM_001271208.2(NEB):c.13721A>G (p.His4574Arg) rs876657542
NM_001271208.2(NEB):c.13748A>T (p.Asp4583Val) rs1553862170
NM_001271208.2(NEB):c.13773C>T (p.Tyr4591=) rs1553862114
NM_001271208.2(NEB):c.13779A>G (p.Leu4593=) rs1057522591
NM_001271208.2(NEB):c.13788+12C>G rs876657543
NM_001271208.2(NEB):c.13788+18G>A rs1057523329
NM_001271208.2(NEB):c.13819C>T (p.Arg4607Cys) rs1553861868
NM_001271208.2(NEB):c.13820G>A (p.Arg4607His) rs1553861849
NM_001271208.2(NEB):c.13840G>A (p.Glu4614Lys) rs1553861834
NM_001271208.2(NEB):c.13941C>T (p.Val4647=) rs886038441
NM_001271208.2(NEB):c.13955T>C (p.Val4652Ala)
NM_001271208.2(NEB):c.13987A>T (p.Ser4663Cys) rs1057521768
NM_001271208.2(NEB):c.14015A>G (p.Asn4672Ser) rs1553861662
NM_001271208.2(NEB):c.14049T>C (p.Asp4683=) rs1057521906
NM_001271208.2(NEB):c.14081C>A (p.Ala4694Asp) rs1553861610
NM_001271208.2(NEB):c.14094C>T (p.Ser4698=)
NM_001271208.2(NEB):c.14097+11C>T rs1553861597
NM_001271208.2(NEB):c.14098-10C>T rs1057522300
NM_001271208.2(NEB):c.1413C>T (p.Phe471=) rs112958786
NM_001271208.2(NEB):c.14144A>G (p.Asp4715Gly) rs1553861549
NM_001271208.2(NEB):c.14228G>A (p.Arg4743His) rs527746468
NM_001271208.2(NEB):c.14266C>A (p.Gln4756Lys) rs755875238
NM_001271208.2(NEB):c.14353G>A (p.Gly4785Arg) rs1057521449
NM_001271208.2(NEB):c.14363A>T (p.Asn4788Ile) rs1279733088
NM_001271208.2(NEB):c.144C>T (p.Ser48=) rs373652428
NM_001271208.2(NEB):c.14514C>A (p.Ser4838Arg) rs1057522066
NM_001271208.2(NEB):c.14514C>T (p.Ser4838=) rs1057522066
NM_001271208.2(NEB):c.14563T>C (p.Leu4855=) rs2288217
NM_001271208.2(NEB):c.14597A>G (p.Lys4866Arg) rs1057522768
NM_001271208.2(NEB):c.14633G>A (p.Arg4878His) rs886038442
NM_001271208.2(NEB):c.14662A>G (p.Ser4888Gly) rs1553854474
NM_001271208.2(NEB):c.1470C>T (p.Asp490=) rs778189876
NM_001271208.2(NEB):c.14755G>C (p.Ala4919Pro) rs1057523555
NM_001271208.2(NEB):c.14759A>T (p.Asn4920Ile) rs753968560
NM_001271208.2(NEB):c.14785C>T (p.Leu4929=) rs554231162
NM_001271208.2(NEB):c.14807A>G (p.Asn4936Ser) rs139930220
NM_001271208.2(NEB):c.14811T>C (p.Ala4937=) rs71415153
NM_001271208.2(NEB):c.14826+10C>T rs769453286
NM_001271208.2(NEB):c.14826+11G>A rs71415152
NM_001271208.2(NEB):c.14834A>G (p.Tyr4945Cys) rs1057521524
NM_001271208.2(NEB):c.14877G>A (p.Leu4959=) rs1344795946
NM_001271208.2(NEB):c.14914T>A (p.Ser4972Thr) rs776187492
NM_001271208.2(NEB):c.14934T>C (p.Asp4978=) rs886038443
NM_001271208.2(NEB):c.14938C>G (p.Leu4980Val) rs1057523623
NM_001271208.2(NEB):c.14986C>T (p.Arg4996Cys) rs1553848018
NM_001271208.2(NEB):c.14992G>A (p.Ala4998Thr) rs1057520912
NM_001271208.2(NEB):c.15031T>C (p.Leu5011=) rs1057523202
NM_001271208.2(NEB):c.15073G>A (p.Asp5025Asn)
NM_001271208.2(NEB):c.15086A>C (p.Lys5029Thr) rs200053313
NM_001271208.2(NEB):c.15105C>G (p.Asp5035Glu) rs1553847946
NM_001271208.2(NEB):c.15106A>G (p.Met5036Val) rs1553847933
NM_001271208.2(NEB):c.15119G>A (p.Ser5040Asn)
NM_001271208.2(NEB):c.15138G>C (p.Gln5046His) rs1057521439
NM_001271208.2(NEB):c.15163C>T (p.Arg5055Cys) rs1553847904
NM_001271208.2(NEB):c.15179A>G (p.His5060Arg) rs886038444
NM_001271208.2(NEB):c.15237A>G (p.Leu5079=) rs1057522592
NM_001271208.2(NEB):c.15246+12C>G rs886038445
NM_001271208.2(NEB):c.15246+18G>A rs1553847838
NM_001271208.2(NEB):c.15277C>T (p.Arg5093Cys) rs1553847687
NM_001271208.2(NEB):c.15278G>A (p.Arg5093His) rs1553847671
NM_001271208.2(NEB):c.15298G>A (p.Glu5100Lys)
NM_001271208.2(NEB):c.15387C>T (p.Phe5129=) rs1057521909
NM_001271208.2(NEB):c.15399C>T (p.Val5133=) rs1057521914
NM_001271208.2(NEB):c.153_167dup (p.52_56LAQPA[3]) rs757726895
NM_001271208.2(NEB):c.15413T>C (p.Val5138Ala)
NM_001271208.2(NEB):c.15445A>T (p.Ser5149Cys) rs1057521769
NM_001271208.2(NEB):c.15456G>C (p.Leu5152=) rs1057522735
NM_001271208.2(NEB):c.154_168CTGGCACAGCCAGCA[3] (p.52_56LAQPA[3]) rs377452683
NM_001271208.2(NEB):c.15512C>T (p.Pro5171Leu) rs1553847475
NM_001271208.2(NEB):c.15513G>A (p.Pro5171=) rs1057523028
NM_001271208.2(NEB):c.15539C>A (p.Ala5180Asp) rs1553847450
NM_001271208.2(NEB):c.15555+11C>T rs1057523905
NM_001271208.2(NEB):c.15602A>G (p.Asp5201Gly) rs1057521567
NM_001271208.2(NEB):c.15686G>A (p.Arg5229His)
NM_001271208.2(NEB):c.1569+38G>A rs76127015
NM_001271208.2(NEB):c.1569C>T (p.Asp523=) rs200758495
NM_001271208.2(NEB):c.15715C>T (p.Arg5239Cys) rs1346076883
NM_001271208.2(NEB):c.15728A>G (p.Asp5243Gly) rs1553846139
NM_001271208.2(NEB):c.15821A>T (p.Asn5274Ile) rs45612241
NM_001271208.2(NEB):c.15827C>T (p.Pro5276Leu) rs1057521772
NM_001271208.2(NEB):c.15892C>T (p.Arg5298Cys) rs931064362
NM_001271208.2(NEB):c.15934G>A (p.Asp5312Asn) rs972580856
NM_001271208.2(NEB):c.15960C>T (p.Tyr5320=) rs1201277571
NM_001271208.2(NEB):c.16021T>C (p.Leu5341=) rs796103760
NM_001271208.2(NEB):c.16090C>T (p.Arg5364Cys) rs1057521915
NM_001271208.2(NEB):c.16091G>A (p.Arg5364His) rs1181822886
NM_001271208.2(NEB):c.16189C>T (p.Arg5397Cys) rs973719257
NM_001271208.2(NEB):c.16192G>A (p.Asp5398Asn) rs750810441
NM_001271208.2(NEB):c.16269C>T (p.Ala5423=) rs542916866
NM_001271208.2(NEB):c.16347C>T (p.Ala5449=)
NM_001271208.2(NEB):c.16382T>C (p.Ile5461Thr) rs1250825186
NM_001271208.2(NEB):c.16392+16_16392+17insG rs1064794175
NM_001271208.2(NEB):c.16392C>T (p.Asp5464=) rs886038446
NM_001271208.2(NEB):c.16450G>A (p.Ala5484Thr) rs536508687
NM_001271208.2(NEB):c.16488G>T (p.Val5496=) rs1553836754
NM_001271208.2(NEB):c.16569G>A (p.Val5523=) rs764449277
NM_001271208.2(NEB):c.16637G>A (p.Arg5546His) rs201111610
NM_001271208.2(NEB):c.16654G>C (p.Asp5552His) rs1057523613
NM_001271208.2(NEB):c.16670T>C (p.Ile5557Thr) rs200703673
NM_001271208.2(NEB):c.1675-13_1675-11delinsA rs1553601860
NM_001271208.2(NEB):c.1675-9T>C rs75118047
NM_001271208.2(NEB):c.1675-9T>G rs75118047
NM_001271208.2(NEB):c.16762T>A (p.Ser5588Thr) rs35227368
NM_001271208.2(NEB):c.16788C>T (p.Asn5596=) rs186902443
NM_001271208.2(NEB):c.16875C>T (p.Val5625=) rs757882235
NM_001271208.2(NEB):c.16911A>G (p.Pro5637=) rs33988153
NM_001271208.2(NEB):c.17013+13A>G rs547891086
NM_001271208.2(NEB):c.1713A>G (p.Lys571=) rs753119399
NM_001271208.2(NEB):c.17304G>A (p.Leu5768=) rs35273905
NM_001271208.2(NEB):c.17325T>C (p.Ala5775=) rs375534633
NM_001271208.2(NEB):c.17415C>T (p.Tyr5805=) rs555516831
NM_001271208.2(NEB):c.17478G>A (p.Met5826Ile)
NM_001271208.2(NEB):c.17497G>A (p.Val5833Ile) rs149881695
NM_001271208.2(NEB):c.17510A>G (p.Lys5837Arg) rs201962649
NM_001271208.2(NEB):c.17519C>T (p.Ala5840Val)
NM_001271208.2(NEB):c.17520G>A (p.Ala5840=) rs372786852
NM_001271208.2(NEB):c.17536-17T>C
NM_001271208.2(NEB):c.17574G>A (p.Thr5858=) rs780714195
NM_001271208.2(NEB):c.17736+36C>T rs371183779
NM_001271208.2(NEB):c.177G>A (p.Gln59=) rs200990309
NM_001271208.2(NEB):c.17838G>A (p.Gln5946=) rs376199241
NM_001271208.2(NEB):c.17887G>A (p.Val5963Ile) rs138217960
NM_001271208.2(NEB):c.17922G>T (p.Leu5974=)
NM_001271208.2(NEB):c.1800C>T (p.Asp600=) rs532710372
NM_001271208.2(NEB):c.1803T>C (p.Tyr601=) rs775413813
NM_001271208.2(NEB):c.18064A>G (p.Ile6022Val) rs574746662
NM_001271208.2(NEB):c.18113A>G (p.Asn6038Ser) rs16830236
NM_001271208.2(NEB):c.18153T>C (p.Ser6051=) rs1381905125
NM_001271208.2(NEB):c.18157-20A>G rs747415022
NM_001271208.2(NEB):c.18294T>C (p.Tyr6098=) rs2288211
NM_001271208.2(NEB):c.18305G>C (p.Arg6102Thr) rs2288210
NM_001271208.2(NEB):c.18366+15T>G rs377385674
NM_001271208.2(NEB):c.18411G>A (p.Thr6137=) rs767659024
NM_001271208.2(NEB):c.18431A>G (p.His6144Arg) rs34504204
NM_001271208.2(NEB):c.18464A>C (p.Tyr6155Ser) rs201971223
NM_001271208.2(NEB):c.18471+20A>G rs202133044
NM_001271208.2(NEB):c.18472-4C>G rs756954250
NM_001271208.2(NEB):c.18555G>A (p.Lys6185=) rs145252235
NM_001271208.2(NEB):c.1856A>G (p.Lys619Arg) rs147305883
NM_001271208.2(NEB):c.18579+6T>C rs116189169
NM_001271208.2(NEB):c.18653G>A (p.Gly6218Asp) rs34471889
NM_001271208.2(NEB):c.18692C>T (p.Ala6231Val) rs375357016
NM_001271208.2(NEB):c.18693G>C (p.Ala6231=) rs141338915
NM_001271208.2(NEB):c.18694-7A>T rs373371474
NM_001271208.2(NEB):c.18831G>A (p.Thr6277=) rs368876425
NM_001271208.2(NEB):c.18861C>T (p.Arg6287=) rs146294986
NM_001271208.2(NEB):c.18870C>T (p.Asn6290=) rs200122580
NM_001271208.2(NEB):c.18891+17G>A
NM_001271208.2(NEB):c.18892-19T>C rs777342340
NM_001271208.2(NEB):c.1896+7T>A rs1553600682
NM_001271208.2(NEB):c.1897-16A>G rs186001008
NM_001271208.2(NEB):c.18997-10T>C rs4544436
NM_001271208.2(NEB):c.18997-10T>G rs4544436
NM_001271208.2(NEB):c.19056G>T (p.Thr6352=) rs115631125
NM_001271208.2(NEB):c.19102-6C>T rs145127681
NM_001271208.2(NEB):c.19206+46C>A rs76261031
NM_001271208.2(NEB):c.19219G>A (p.Glu6407Lys) rs144539316
NM_001271208.2(NEB):c.19284C>T (p.His6428=) rs201005449
NM_001271208.2(NEB):c.19285G>A (p.Ala6429Thr) rs149752325
NM_001271208.2(NEB):c.19285_19286delinsAA (p.Ala6429Asn) rs796065338
NM_001271208.2(NEB):c.19286C>A (p.Ala6429Asp) rs139636644
NM_001271208.2(NEB):c.19295A>G (p.Gln6432Arg) rs189912759
NM_001271208.2(NEB):c.19311C>T (p.Ser6437=) rs16830216
NM_001271208.2(NEB):c.19315-4A>G rs778306769
NM_001271208.2(NEB):c.19398G>A (p.Arg6466=) rs867834427
NM_001271208.2(NEB):c.19429-28T>A rs756969318
NM_001271208.2(NEB):c.19455G>A (p.Lys6485=) rs182847302
NM_001271208.2(NEB):c.19482C>T (p.Pro6494=) rs200333206
NM_001271208.2(NEB):c.194C>T (p.Pro65Leu) rs375909006
NM_001271208.2(NEB):c.19557C>T (p.His6519=) rs371785128
NM_001271208.2(NEB):c.195G>A (p.Pro65=) rs79524813
NM_001271208.2(NEB):c.19626T>C (p.Asp6542=) rs190336010
NM_001271208.2(NEB):c.19665T>C (p.Ile6555=) rs150842230
NM_001271208.2(NEB):c.19732-39G>C rs144077905
NM_001271208.2(NEB):c.19732-6C>T rs11894996
NM_001271208.2(NEB):c.19746T>C (p.Ala6582=) rs143456239
NM_001271208.2(NEB):c.1974T>C (p.Asp658=) rs199528953
NM_001271208.2(NEB):c.19751T>C (p.Met6584Thr) rs190605644
NM_001271208.2(NEB):c.19803G>A (p.Val6601=) rs374957115
NM_001271208.2(NEB):c.19810G>C (p.Val6604Leu)
NM_001271208.2(NEB):c.1981C>T (p.Leu661=) rs146460133
NM_001271208.2(NEB):c.19836+10C>G rs148814261
NM_001271208.2(NEB):c.19944+14A>T rs147106649
NM_001271208.2(NEB):c.19944+3G>A rs115142419
NM_001271208.2(NEB):c.20019C>T (p.His6673=) rs374881368
NM_001271208.2(NEB):c.20032C>T (p.Arg6678Cys) rs200239095
NM_001271208.2(NEB):c.20089G>A (p.Gly6697Arg) rs201071685
NM_001271208.2(NEB):c.20098C>A (p.Leu6700Ile) rs202139330
NM_001271208.2(NEB):c.20106C>T (p.Pro6702=) rs1553717815
NM_001271208.2(NEB):c.20128G>A (p.Val6710Ile) rs199890298
NM_001271208.2(NEB):c.20158-5C>T rs376869270
NM_001271208.2(NEB):c.20192A>T (p.Asp6731Val) rs2288200
NM_001271208.2(NEB):c.20199C>T (p.Ile6733=) rs1322022679
NM_001271208.2(NEB):c.20245C>A (p.Gln6749Lys) rs772854423
NM_001271208.2(NEB):c.20263-18G>A rs377143618
NM_001271208.2(NEB):c.20355C>T (p.Asp6785=) rs140323673
NM_001271208.2(NEB):c.20367+16G>C rs145636096
NM_001271208.2(NEB):c.20446C>G (p.Arg6816Gly) rs780644697
NM_001271208.2(NEB):c.20454G>C (p.Leu6818=) rs374662309
NM_001271208.2(NEB):c.20466+11A>G rs181826071
NM_001271208.2(NEB):c.20466+7G>A rs201684605
NM_001271208.2(NEB):c.20467-20_20467-19dup rs10687343
NM_001271208.2(NEB):c.20467-3dup rs765107380
NM_001271208.2(NEB):c.20467-4T>A rs199791504
NM_001271208.2(NEB):c.20467-4_20467-3insTA rs1553708977
NM_001271208.2(NEB):c.20467-5T>A rs762368980
NM_001271208.2(NEB):c.20467-5_20467-4insA rs864309576
NM_001271208.2(NEB):c.2049C>G (p.Gly683=) rs372609682
NM_001271208.2(NEB):c.2053A>G (p.Met685Val) rs370986655
NM_001271208.2(NEB):c.20598C>G (p.Gly6866=) rs16830192
NM_001271208.2(NEB):c.20671C>T (p.Leu6891Phe) rs182866658
NM_001271208.2(NEB):c.20682+13G>A rs189918704
NM_001271208.2(NEB):c.20766C>T (p.Asp6922=) rs34555492
NM_001271208.2(NEB):c.20853C>T (p.Ile6951=) rs199730497
NM_001271208.2(NEB):c.20946A>G (p.Lys6982=) rs371201870
NM_001271208.2(NEB):c.20961T>C (p.Ile6987=) rs1553689592
NM_001271208.2(NEB):c.20998-49C>T rs374484102
NM_001271208.2(NEB):c.20998-7A>C rs1408680616
NM_001271208.2(NEB):c.21027G>A (p.Gln7009=) rs758282270
NM_001271208.2(NEB):c.2103T>C (p.Ser701=) rs535236430
NM_001271208.2(NEB):c.21044C>G (p.Ser7015Cys) rs62167164
NM_001271208.2(NEB):c.2107-8C>T rs369441230
NM_001271208.2(NEB):c.21173C>T (p.Thr7058Ile) rs200523155
NM_001271208.2(NEB):c.21207+8T>C rs1553686509
NM_001271208.2(NEB):c.21208-11G>A rs1057522156
NM_001271208.2(NEB):c.21266C>G (p.Ser7089Cys) rs774297352
NM_001271208.2(NEB):c.21300A>G (p.Gln7100=) rs1050612430
NM_001271208.2(NEB):c.2283C>T (p.Ala761=) rs373946448
NM_001271208.2(NEB):c.2310+9T>A rs779165221
NM_001271208.2(NEB):c.2318A>G (p.Tyr773Cys) rs77151072
NM_001271208.2(NEB):c.2415T>C (p.Asp805=) rs566989836
NM_001271208.2(NEB):c.2416-6G>T rs185433570
NM_001271208.2(NEB):c.2510A>G (p.Lys837Arg) rs189623595
NM_001271208.2(NEB):c.2524-15G>T rs151206071
NM_001271208.2(NEB):c.2529G>A (p.Met843Ile) rs1488992428
NM_001271208.2(NEB):c.2540A>G (p.Asp847Gly) rs375894183
NM_001271208.2(NEB):c.2589C>T (p.Asp863=) rs370176216
NM_001271208.2(NEB):c.2604G>T (p.Leu868=) rs201698008
NM_001271208.2(NEB):c.2637+17A>G rs145112154
NM_001271208.2(NEB):c.2640C>T (p.Arg880=) rs114959904
NM_001271208.2(NEB):c.2742C>T (p.Asp914=) rs766761991
NM_001271208.2(NEB):c.2781C>G (p.Pro927=) rs745481666
NM_001271208.2(NEB):c.2944-9G>A rs13427102
NM_001271208.2(NEB):c.295-19T>C rs1012626849
NM_001271208.2(NEB):c.295-8C>T rs767768026
NM_001271208.2(NEB):c.3024C>T (p.Asn1008=) rs1273538969
NM_001271208.2(NEB):c.3043-16T>A rs767501380
NM_001271208.2(NEB):c.3043-17A>G rs1553540138
NM_001271208.2(NEB):c.3081A>T (p.Lys1027Asn) rs6735208
NM_001271208.2(NEB):c.3147+18C>T rs369903833
NM_001271208.2(NEB):c.3191A>G (p.Tyr1064Cys) rs187343008
NM_001271208.2(NEB):c.322A>G (p.Thr108Ala) rs544069233
NM_001271208.2(NEB):c.3255C>T (p.Asp1085=) rs368625295
NM_001271208.2(NEB):c.3373G>C (p.Glu1125Gln) rs757784515
NM_001271208.2(NEB):c.3412A>G (p.Asn1138Asp) rs117048449
NM_001271208.2(NEB):c.3443C>T (p.Ala1148Val) rs200637566
NM_001271208.2(NEB):c.3444G>A (p.Ala1148=) rs375569766
NM_001271208.2(NEB):c.3468C>T (p.Val1156=) rs373258662
NM_001271208.2(NEB):c.3519C>T (p.Asp1173=) rs376512820
NM_001271208.2(NEB):c.3567+13T>C rs886038451
NM_001271208.2(NEB):c.3593A>G (p.Asn1198Ser) rs146616621
NM_001271208.2(NEB):c.3623T>C (p.Ile1208Thr) rs201141958
NM_001271208.2(NEB):c.3636C>T (p.Asp1212=) rs144376972
NM_001271208.2(NEB):c.3637G>A (p.Val1213Ile) rs202124287
NM_001271208.2(NEB):c.3639C>T (p.Val1213=) rs74320183
NM_001271208.2(NEB):c.3775-18A>G rs777446803
NM_001271208.2(NEB):c.3775-6T>C rs80232472
NM_001271208.2(NEB):c.3778T>C (p.Leu1260=) rs886038452
NM_001271208.2(NEB):c.3801T>C (p.Asp1267=) rs182725059
NM_001271208.2(NEB):c.3826C>A (p.Pro1276Thr) rs34234609
NM_001271208.2(NEB):c.3879+8G>A rs376511134
NM_001271208.2(NEB):c.3918G>A (p.Lys1306=) rs368682145
NM_001271208.2(NEB):c.3936C>T (p.Gly1312=) rs753005851
NM_001271208.2(NEB):c.3986A>C (p.Asp1329Ala) rs115986826
NM_001271208.2(NEB):c.3988-15A>G rs1159293402
NM_001271208.2(NEB):c.4003G>A (p.Ala1335Thr) rs1219059740
NM_001271208.2(NEB):c.4060A>G (p.Lys1354Glu) rs371454282
NM_001271208.2(NEB):c.4198G>A (p.Ala1400Thr) rs113174390
NM_001271208.2(NEB):c.4206T>A (p.Asn1402Lys) rs201169452
NM_001271208.2(NEB):c.4251C>T (p.Asp1417=) rs550832252
NM_001271208.2(NEB):c.426T>A (p.Asp142Glu) rs200590080
NM_001271208.2(NEB):c.426T>C (p.Asp142=) rs200590080
NM_001271208.2(NEB):c.4272G>C (p.Thr1424=) rs35654397
NM_001271208.2(NEB):c.4283A>G (p.Asn1428Ser) rs565184120
NM_001271208.2(NEB):c.4326C>T (p.Ser1442=) rs1196827078
NM_001271208.2(NEB):c.4393G>A (p.Asp1465Asn) rs745382279
NM_001271208.2(NEB):c.4398A>G (p.Ala1466=) rs368136951
NM_001271208.2(NEB):c.4407G>C (p.Glu1469Asp) rs34800215
NM_001271208.2(NEB):c.4434C>T (p.Thr1478=) rs747503023
NM_001271208.2(NEB):c.4435G>A (p.Val1479Ile) rs34577613
NM_001271208.2(NEB):c.4466G>A (p.Gly1489Asp) rs74482326
NM_001271208.2(NEB):c.4471G>A (p.Val1491Met) rs7426114
NM_001271208.2(NEB):c.4596C>T (p.Ala1532=) rs1258108366
NM_001271208.2(NEB):c.4649A>G (p.Lys1550Arg) rs114089598
NM_001271208.2(NEB):c.4720-18C>T rs79402065
NM_001271208.2(NEB):c.4834C>T (p.Arg1612Cys) rs200545007
NM_001271208.2(NEB):c.4980C>T (p.Pro1660=) rs142074817
NM_001271208.2(NEB):c.5032-15T>C rs201180226
NM_001271208.2(NEB):c.5073C>T (p.Ile1691=) rs190322907
NM_001271208.2(NEB):c.5102T>C (p.Val1701Ala) rs117271684
NM_001271208.2(NEB):c.5160C>T (p.Pro1720=) rs377168964
NM_001271208.2(NEB):c.5181C>T (p.Tyr1727=) rs35016946
NM_001271208.2(NEB):c.5225T>G (p.Leu1742Arg) rs202113159
NM_001271208.2(NEB):c.5247C>T (p.Tyr1749=) rs777520288
NM_001271208.2(NEB):c.5301G>A (p.Pro1767=) rs150496369
NM_001271208.2(NEB):c.5370G>A (p.Glu1790=) rs10170273
NM_001271208.2(NEB):c.5376G>A (p.Lys1792=) rs886038453
NM_001271208.2(NEB):c.539A>G (p.Lys180Arg) rs200719359
NM_001271208.2(NEB):c.5420C>T (p.Ala1807Val) rs373790988
NM_001271208.2(NEB):c.5555T>G (p.Met1852Arg) rs144180493
NM_001271208.2(NEB):c.5567G>A (p.Arg1856Gln) rs141930814
NM_001271208.2(NEB):c.5595C>T (p.Ser1865=) rs1553485337
NM_001271208.2(NEB):c.5616G>A (p.Pro1872=) rs368371414
NM_001271208.2(NEB):c.5696C>T (p.Thr1899Ile) rs202234374
NM_001271208.2(NEB):c.5718C>T (p.Ala1906=) rs115379999
NM_001271208.2(NEB):c.5724C>T (p.Ser1908=) rs370965998
NM_001271208.2(NEB):c.5763+15C>T rs148455519
NM_001271208.2(NEB):c.5763+27G>A rs373166434
NM_001271208.2(NEB):c.5763+4C>T rs78916288
NM_001271208.2(NEB):c.5772C>T (p.Tyr1924=) rs77547727
NM_001271208.2(NEB):c.5802C>T (p.Gly1934=) rs139963368
NM_001271208.2(NEB):c.5967C>T (p.Asn1989=) rs371151246
NM_001271208.2(NEB):c.5968G>A (p.Glu1990Lys) rs146310692
NM_001271208.2(NEB):c.5971C>T (p.His1991Tyr) rs75807392
NM_001271208.2(NEB):c.6020T>C (p.Met2007Thr) rs199862790
NM_001271208.2(NEB):c.6043T>C (p.Leu2015=) rs748458556
NM_001271208.2(NEB):c.6069G>A (p.Met2023Ile) rs184262608
NM_001271208.2(NEB):c.6088C>T (p.Leu2030Phe) rs200251444
NM_001271208.2(NEB):c.612+15C>T rs112288851
NM_001271208.2(NEB):c.612+8T>C rs113095802
NM_001271208.2(NEB):c.6159G>A (p.Lys2053=) rs140186806
NM_001271208.2(NEB):c.6166A>G (p.Arg2056Gly) rs115350357
NM_001271208.2(NEB):c.6172A>T (p.Ile2058Phe) rs543827269
NM_001271208.2(NEB):c.6183+17C>T rs371738434
NM_001271208.2(NEB):c.6184-14T>A rs10173335
NM_001271208.2(NEB):c.6219G>A (p.Gly2073=) rs960591817
NM_001271208.2(NEB):c.6278T>C (p.Val2093Ala) rs147476634
NM_001271208.2(NEB):c.6291A>G (p.Gln2097=) rs753864118
NM_001271208.2(NEB):c.6318T>C (p.Tyr2106=) rs766947078
NM_001271208.2(NEB):c.6381T>A (p.Asp2127Glu) rs368302286
NM_001271208.2(NEB):c.6449C>T (p.Ala2150Val) rs375256600
NM_001271208.2(NEB):c.6488A>G (p.Gln2163Arg) rs200813844
NM_001271208.2(NEB):c.6507G>A (p.Lys2169=) rs267598923
NM_001271208.2(NEB):c.6559C>T (p.Leu2187=) rs369413888
NM_001271208.2(NEB):c.6565G>A (p.Val2189Met) rs1188389782
NM_001271208.2(NEB):c.6615C>G (p.Arg2205=) rs200018782
NM_001271208.2(NEB):c.6658A>G (p.Met2220Val) rs200481156
NM_001271208.2(NEB):c.6717T>G (p.Ile2239Met) rs78733601
NM_001271208.2(NEB):c.675G>A (p.Pro225=) rs138528093
NM_001271208.2(NEB):c.6807+6T>G rs10930723
NM_001271208.2(NEB):c.6808-11T>C rs199804593
NM_001271208.2(NEB):c.6817A>G (p.Lys2273Glu) rs199700878
NM_001271208.2(NEB):c.6869C>T (p.Ala2290Val) rs756114192
NM_001271208.2(NEB):c.6900A>G (p.Arg2300=) rs1553457085
NM_001271208.2(NEB):c.7010T>C (p.Val2337Ala) rs1558825869
NM_001271208.2(NEB):c.7123T>C (p.Leu2375=) rs373895191
NM_001271208.2(NEB):c.7126G>C (p.Val2376Leu) rs141155976
NM_001271208.2(NEB):c.7176T>C (p.Pro2392=) rs1042667385
NM_001271208.2(NEB):c.7310G>A (p.Arg2437Gln) rs61730780
NM_001271208.2(NEB):c.7342C>T (p.Arg2448Cys) rs576076237
NM_001271208.2(NEB):c.7343G>A (p.Arg2448His) rs373589529
NM_001271208.2(NEB):c.7499T>C (p.Ile2500Thr)
NM_001271208.2(NEB):c.7514C>A (p.Ala2505Glu) rs35292878
NM_001271208.2(NEB):c.7545C>T (p.Tyr2515=) rs776265168
NM_001271208.2(NEB):c.7581C>T (p.Tyr2527=) rs200425929
NM_001271208.2(NEB):c.7644+25T>C rs78226234
NM_001271208.2(NEB):c.771T>C (p.Ala257=) rs4611637
NM_001271208.2(NEB):c.7737T>C (p.His2579=) rs528614990
NM_001271208.2(NEB):c.781G>C (p.Asp261His)
NM_001271208.2(NEB):c.7839G>C (p.Lys2613Asn) rs13013209
NM_001271208.2(NEB):c.7851C>A (p.Thr2617=) rs1553982484
NM_001271208.2(NEB):c.7854A>G (p.Leu2618=) rs370074798
NM_001271208.2(NEB):c.7953C>T (p.Ser2651=) rs183764569
NM_001271208.2(NEB):c.8064T>C (p.His2688=) rs1057523363
NM_001271208.2(NEB):c.8072G>A (p.Arg2691His) rs35555631
NM_001271208.2(NEB):c.807C>A (p.Thr269=) rs1430006856
NM_001271208.2(NEB):c.8189A>G (p.Asp2730Gly) rs76767949
NM_001271208.2(NEB):c.822+13A>G rs1057523586
NM_001271208.2(NEB):c.8266-20A>C rs1241056840
NM_001271208.2(NEB):c.8318G>A (p.Arg2773Gln) rs35974308
NM_001271208.2(NEB):c.8335A>G (p.Ile2779Val) rs114853127
NM_001271208.2(NEB):c.8363T>C (p.Ile2788Thr) rs990382620
NM_001271208.2(NEB):c.8373+13G>A rs199564399
NM_001271208.2(NEB):c.8406C>T (p.Leu2802=) rs377170982
NM_001271208.2(NEB):c.8447A>G (p.Lys2816Arg) rs1176964266
NM_001271208.2(NEB):c.8466C>T (p.His2822=) rs61730771
NM_001271208.2(NEB):c.8490G>A (p.Arg2830=) rs368217121
NM_001271208.2(NEB):c.8592T>C (p.Asp2864=) rs61730772
NM_001271208.2(NEB):c.8598C>G (p.Asp2866Glu) rs1553966356
NM_001271208.2(NEB):c.8601C>T (p.Tyr2867=) rs1286220682
NM_001271208.2(NEB):c.8625A>G (p.Thr2875=) rs200386897
NM_001271208.2(NEB):c.863A>G (p.Lys288Arg) rs202035863
NM_001271208.2(NEB):c.8643C>T (p.Ser2881=) rs150135749
NM_001271208.2(NEB):c.8719G>A (p.Gly2907Ser) rs201707021
NM_001271208.2(NEB):c.8734T>C (p.Ser2912Pro) rs6713162
NM_001271208.2(NEB):c.8801G>A (p.Arg2934His) rs200307392
NM_001271208.2(NEB):c.9044T>C (p.Leu3015Ser) rs573822094
NM_001271208.2(NEB):c.9071C>T (p.Ala3024Val) rs143933602
NM_001271208.2(NEB):c.9072G>A (p.Ala3024=) rs369897667
NM_001271208.2(NEB):c.9139C>A (p.His3047Asn) rs147168910
NM_001271208.2(NEB):c.914A>G (p.Asp305Gly) rs36105240
NM_001271208.2(NEB):c.9155G>A (p.Arg3052Gln) rs201176993
NM_001271208.2(NEB):c.9181A>T (p.Met3061Leu) rs143473183
NM_001271208.2(NEB):c.9195C>T (p.His3065=) rs374734631
NM_001271208.2(NEB):c.927+10G>A rs1328277826
NM_001271208.2(NEB):c.927+14G>A
NM_001271208.2(NEB):c.927+7T>C rs746940000
NM_001271208.2(NEB):c.928-10T>C rs886038454
NM_001271208.2(NEB):c.9315C>A (p.Val3105=) rs371174518
NM_001271208.2(NEB):c.9330T>C (p.Tyr3110=) rs770174001
NM_001271208.2(NEB):c.9346G>A (p.Glu3116Lys) rs193042896
NM_001271208.2(NEB):c.9352A>T (p.Thr3118Ser) rs543100735
NM_001271208.2(NEB):c.9354A>G (p.Thr3118=) rs187637065
NM_001271208.2(NEB):c.9363T>G (p.Pro3121=) rs6709886
NM_001271208.2(NEB):c.9377T>C (p.Val3126Ala)
NM_001271208.2(NEB):c.9467T>A (p.Ile3156Asn) rs145770770
NM_001271208.2(NEB):c.9480T>C (p.Asp3160=) rs1475280445
NM_001271208.2(NEB):c.9483G>A (p.Val3161=) rs1369814853
NM_001271208.2(NEB):c.9619-14A>G rs374444328
NM_001271208.2(NEB):c.9619-20C>T rs778867943
NM_001271208.2(NEB):c.9723+7G>A rs557480322
NM_001271208.2(NEB):c.9724-5C>T rs1553934604
NM_001271208.2(NEB):c.9743A>G (p.Asn3248Ser) rs139548702
NM_001271208.2(NEB):c.984C>T (p.Thr328=) rs199969138

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