ClinVar Miner

Variants in gene NEB with conflicting interpretations

See also:
Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
2447 388 1 147 181 0 8 319

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 1 31 4 0 0
likely pathogenic 31 0 4 1 0
uncertain significance 4 4 0 161 35
likely benign 0 1 161 0 116
benign 0 0 35 116 0

All variants with conflicting interpretations #

Total variants: 319
Download table as spreadsheet
HGVS dbSNP
NM_001164508.2(NEB):c.1074A>G (p.Lys358=)
NM_001164508.2(NEB):c.154CTGGCACAGCCAGCA[3] (p.52LAQPA[3]) rs377452683
NM_001164508.2(NEB):c.21051T>C (p.Pro7017=)
NM_001271208.2(NEB):c.10092C>T (p.Pro3364=) rs768708852
NM_001271208.2(NEB):c.10201T>A (p.Ser3401Thr) rs199847072
NM_001271208.2(NEB):c.10341G>A (p.Met3447Ile) rs370053963
NM_001271208.2(NEB):c.10434T>C (p.Asn3478=) rs375543045
NM_001271208.2(NEB):c.10608C>T (p.Gly3536=) rs144673752
NM_001271208.2(NEB):c.10612C>T (p.Arg3538Ter) rs779909544
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.11025G>A (p.Thr3675=) rs199789085
NM_001271208.2(NEB):c.11034G>A (p.Pro3678=) rs528974814
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.11182-8T>A rs183088493
NM_001271208.2(NEB):c.1119G>A (p.Arg373=) rs200914626
NM_001271208.2(NEB):c.11341C>T (p.Arg3781Trp) rs533027587
NM_001271208.2(NEB):c.11361G>A (p.Pro3787=) rs200043736
NM_001271208.2(NEB):c.11457G>A (p.Val3819=) rs780152095
NM_001271208.2(NEB):c.11559T>C (p.Asn3853=) rs369429046
NM_001271208.2(NEB):c.11627G>A (p.Trp3876Ter) rs776569219
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.11806-1G>A rs886041851
NM_001271208.2(NEB):c.1182A>C (p.Thr394=) rs186233985
NM_001271208.2(NEB):c.12018+1G>A rs762278237
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.12210C>G (p.Ala4070=) rs749556191
NM_001271208.2(NEB):c.12369C>T (p.Ile4123=) rs1277282343
NM_001271208.2(NEB):c.12492A>C (p.Pro4164=) rs1462106212
NM_001271208.2(NEB):c.1258-7C>G rs371265681
NM_001271208.2(NEB):c.12615C>T (p.His4205=) rs1579048021
NM_001271208.2(NEB):c.12640-10C>T rs1264692800
NM_001271208.2(NEB):c.12667G>A (p.Ala4223Thr) rs12998234
NM_001271208.2(NEB):c.12688A>G (p.Ile4230Val) rs532986882
NM_001271208.2(NEB):c.12723G>A (p.Lys4241=) rs772682280
NM_001271208.2(NEB):c.12770G>A (p.Arg4257His) rs576918934
NM_001271208.2(NEB):c.12873G>A (p.Lys4291=) rs1578940609
NM_001271208.2(NEB):c.12999G>A (p.Thr4333=) rs1384738774
NM_001271208.2(NEB):c.12C>T (p.Asp4=) rs117178114
NM_001271208.2(NEB):c.13056C>T (p.Ser4352=) rs1468240932
NM_001271208.2(NEB):c.13105C>T (p.Leu4369=) rs147579763
NM_001271208.2(NEB):c.13130_13131del (p.Met4377fs) rs1490309743
NM_001271208.2(NEB):c.13147C>T (p.Gln4383Ter) rs1212374733
NM_001271208.2(NEB):c.13276G>A (p.Asp4426Asn) rs876657540
NM_001271208.2(NEB):c.13327C>T (p.Leu4443=) rs1578872999
NM_001271208.2(NEB):c.13353C>T (p.Ala4451=) rs774726264
NM_001271208.2(NEB):c.13368+11A>G rs112260335
NM_001271208.2(NEB):c.13476C>T (p.Asp4492=) rs876657541
NM_001271208.2(NEB):c.13534G>A (p.Ala4512Thr) rs886038435
NM_001271208.2(NEB):c.13628A>C (p.Lys4543Thr) rs200125713
NM_001271208.2(NEB):c.1366-4A>G rs886038438
NM_001271208.2(NEB):c.13661G>A (p.Ser4554Asn) rs1057522021
NM_001271208.2(NEB):c.13785C>T (p.Ser4595=) rs1578800572
NM_001271208.2(NEB):c.1413C>T (p.Phe471=) rs112958786
NM_001271208.2(NEB):c.14914T>A (p.Ser4972Thr) rs776187492
NM_001271208.2(NEB):c.15086A>C (p.Lys5029Thr) rs200053313
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.153_167dup (p.52_56LAQPA[3]) rs757726895
NM_001271208.2(NEB):c.15445A>T (p.Ser5149Cys) rs1057521769
NM_001271208.2(NEB):c.15821A>T (p.Asn5274Ile) rs45612241
NM_001271208.2(NEB):c.16021T>C (p.Leu5341=) rs796103760
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.16450G>A (p.Ala5484Thr) rs536508687
NM_001271208.2(NEB):c.16637G>A (p.Arg5546His) rs201111610
NM_001271208.2(NEB):c.1674+2T>C rs1553603437
NM_001271208.2(NEB):c.1675-4C>G rs369915027
NM_001271208.2(NEB):c.1675-9T>G rs75118047
NM_001271208.2(NEB):c.16762T>A (p.Ser5588Thr) rs35227368
NM_001271208.2(NEB):c.16911A>G (p.Pro5637=) rs33988153
NM_001271208.2(NEB):c.17049G>T (p.Ala5683=) rs140688592
NM_001271208.2(NEB):c.17415C>T (p.Tyr5805=) rs555516831
NM_001271208.2(NEB):c.17497G>A (p.Val5833Ile) rs149881695
NM_001271208.2(NEB):c.17601G>A (p.Val5867=) rs58263509
NM_001271208.2(NEB):c.17628C>T (p.Leu5876=) rs377183242
NM_001271208.2(NEB):c.17635-15_17635-14dup rs3214503
NM_001271208.2(NEB):c.17635-3del rs3214503
NM_001271208.2(NEB):c.17747A>G (p.Lys5916Arg) rs73967567
NM_001271208.2(NEB):c.177G>A (p.Gln59=) rs200990309
NM_001271208.2(NEB):c.17844+7C>T rs373259828
NM_001271208.2(NEB):c.17845-5G>A rs373390654
NM_001271208.2(NEB):c.17887G>A (p.Val5963Ile) rs138217960
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.18144C>T (p.Asp6048=) rs1319860549
NM_001271208.2(NEB):c.18224A>C (p.His6075Pro) rs768813228
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+9G>A rs759834773
NM_001271208.2(NEB):c.1839C>T (p.Ser613=) rs751976783
NM_001271208.2(NEB):c.18410C>T (p.Thr6137Met) rs201462794
NM_001271208.2(NEB):c.18530G>A (p.Arg6177His) rs147159176
NM_001271208.2(NEB):c.18531C>T (p.Arg6177=) rs541088387
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.18693G>C (p.Ala6231=) rs141338915
NM_001271208.2(NEB):c.18786C>T (p.Tyr6262=) rs374874999
NM_001271208.2(NEB):c.18800T>C (p.Leu6267Pro) rs184723737
NM_001271208.2(NEB):c.18861C>T (p.Arg6287=) rs146294986
NM_001271208.2(NEB):c.18865C>T (p.Arg6289Ter) rs539819851
NM_001271208.2(NEB):c.18870C>T (p.Asn6290=) rs200122580
NM_001271208.2(NEB):c.18885G>A (p.Leu6295=) rs141925015
NM_001271208.2(NEB):c.18997-10T>C rs4544436
NM_001271208.2(NEB):c.1899A>T (p.Arg633Ser) rs77826191
NM_001271208.2(NEB):c.19056G>T (p.Thr6352=) rs115631125
NM_001271208.2(NEB):c.19101+5G>A rs374929094
NM_001271208.2(NEB):c.19102-6C>T rs145127681
NM_001271208.2(NEB):c.19311C>T (p.Ser6437=) rs16830216
NM_001271208.2(NEB):c.19315-10T>C rs201473873
NM_001271208.2(NEB):c.19315-4A>G rs778306769
NM_001271208.2(NEB):c.19405C>T (p.Arg6469Ter) rs1553740233
NM_001271208.2(NEB):c.19455G>A (p.Lys6485=) rs182847302
NM_001271208.2(NEB):c.194C>T (p.Pro65Leu) rs375909006
NM_001271208.2(NEB):c.1953G>A (p.Glu651=) rs367997645
NM_001271208.2(NEB):c.19550G>A (p.Arg6517His) rs149596493
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.19674C>T (p.Tyr6558=) rs201515651
NM_001271208.2(NEB):c.19722A>G (p.Leu6574=) rs141526973
NM_001271208.2(NEB):c.19732-6C>T rs11894996
NM_001271208.2(NEB):c.19732-8C>T rs137934821
NM_001271208.2(NEB):c.19746T>C (p.Ala6582=) rs143456239
NM_001271208.2(NEB):c.19751T>G (p.Met6584Arg) rs190605644
NM_001271208.2(NEB):c.1981C>T (p.Leu661=) rs146460133
NM_001271208.2(NEB):c.19899C>T (p.Thr6633=) rs370742146
NM_001271208.2(NEB):c.19944G>A (p.Ser6648=) rs201553266
NM_001271208.2(NEB):c.20032C>T (p.Arg6678Cys) rs200239095
NM_001271208.2(NEB):c.20078C>T (p.Thr6693Ile) rs35707762
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.20128G>A (p.Val6710Ile) rs199890298
NM_001271208.2(NEB):c.20192A>T (p.Asp6731Val) rs2288200
NM_001271208.2(NEB):c.20466+7G>A rs201684605
NM_001271208.2(NEB):c.20467-20_20467-19dup rs10687343
NM_001271208.2(NEB):c.20467-4T>A rs199791504
NM_001271208.2(NEB):c.20467-4del rs10687343
NM_001271208.2(NEB):c.20578-6G>A rs376710012
NM_001271208.2(NEB):c.20578-8A>G
NM_001271208.2(NEB):c.20598C>G (p.Gly6866=) rs16830192
NM_001271208.2(NEB):c.20659C>T (p.Arg6887Ter) rs749452641
NM_001271208.2(NEB):c.20766C>T (p.Asp6922=) rs34555492
NM_001271208.2(NEB):c.20835G>A (p.Pro6945=) rs186244044
NM_001271208.2(NEB):c.20853C>T (p.Ile6951=) rs199730497
NM_001271208.2(NEB):c.20896C>T (p.Arg6966Cys) rs115623365
NM_001271208.2(NEB):c.21028T>C (p.Leu7010=) rs750374820
NM_001271208.2(NEB):c.21044C>G (p.Ser7015Cys) rs62167164
NM_001271208.2(NEB):c.2107-8C>T rs369441230
NM_001271208.2(NEB):c.21270G>T (p.Pro7090=) rs368887173
NM_001271208.2(NEB):c.21396C>T (p.Thr7132=) rs759637718
NM_001271208.2(NEB):c.2211+5G>A rs797045736
NM_001271208.2(NEB):c.2211+5G>T rs797045736
NM_001271208.2(NEB):c.2250G>A (p.Thr750=) rs753965951
NM_001271208.2(NEB):c.2283C>T (p.Ala761=) rs373946448
NM_001271208.2(NEB):c.2343G>A (p.Lys781=) rs191610670
NM_001271208.2(NEB):c.2415T>C (p.Asp805=) rs566989836
NM_001271208.2(NEB):c.2510A>G (p.Lys837Arg) rs189623595
NM_001271208.2(NEB):c.2540A>G (p.Asp847Gly) rs375894183
NM_001271208.2(NEB):c.2603T>C (p.Leu868Pro) rs143123053
NM_001271208.2(NEB):c.2640C>T (p.Arg880=) rs114959904
NM_001271208.2(NEB):c.2659G>T (p.Glu887Ter) rs1553558398
NM_001271208.2(NEB):c.2739C>T (p.Ser913=) rs185674525
NM_001271208.2(NEB):c.2784del (p.Asp929fs) rs786204430
NM_001271208.2(NEB):c.2823G>A (p.Ala941=) rs376849181
NM_001271208.2(NEB):c.2832C>T (p.Ser944=) rs114076205
NM_001271208.2(NEB):c.2892T>C (p.Phe964=) rs762595663
NM_001271208.2(NEB):c.2920C>T (p.Arg974Ter) rs1553548666
NM_001271208.2(NEB):c.293C>T (p.Pro98Leu) rs201473194
NM_001271208.2(NEB):c.294+2T>C rs773952935
NM_001271208.2(NEB):c.2944-9G>A rs13427102
NM_001271208.2(NEB):c.3081A>T (p.Lys1027Asn) rs6735208
NM_001271208.2(NEB):c.3191A>G (p.Tyr1064Cys) rs187343008
NM_001271208.2(NEB):c.3246G>A (p.Ala1082=) rs372664114
NM_001271208.2(NEB):c.3255+1G>T rs375628303
NM_001271208.2(NEB):c.3255C>T (p.Asp1085=) rs368625295
NM_001271208.2(NEB):c.3399A>G (p.Thr1133=) rs543961404
NM_001271208.2(NEB):c.3412A>G (p.Asn1138Asp) rs117048449
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.3567+1G>A rs587780399
NM_001271208.2(NEB):c.3568-10A>G rs774345653
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.37-1G>A rs1428597732
NM_001271208.2(NEB):c.3759G>A (p.Thr1253=) rs763075598
NM_001271208.2(NEB):c.3775-6T>C rs80232472
NM_001271208.2(NEB):c.3778T>C (p.Leu1260=) rs886038452
NM_001271208.2(NEB):c.3826C>A (p.Pro1276Thr) rs34234609
NM_001271208.2(NEB):c.3874A>G (p.Ser1292Gly) rs1553521537
NM_001271208.2(NEB):c.3879+1G>A rs746999970
NM_001271208.2(NEB):c.3879+8G>A rs376511134
NM_001271208.2(NEB):c.3880-2A>G rs1342507012
NM_001271208.2(NEB):c.3987+1_3987+2delinsTG rs786204576
NM_001271208.2(NEB):c.412C>T (p.Arg138Ter) rs1057517360
NM_001271208.2(NEB):c.4149C>T (p.Thr1383=) rs148794372
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.4221G>A (p.Gln1407=) rs6709752
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.4407G>C (p.Glu1469Asp) rs34800215
NM_001271208.2(NEB):c.4431T>C (p.Asp1477=) rs140558263
NM_001271208.2(NEB):c.4435G>A (p.Val1479Ile) rs34577613
NM_001271208.2(NEB):c.4463T>C (p.Met1488Thr) rs201545521
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.4507-3del rs767772701
NM_001271208.2(NEB):c.4548T>C (p.Tyr1516=) rs748479655
NM_001271208.2(NEB):c.4649A>G (p.Lys1550Arg) rs114089598
NM_001271208.2(NEB):c.469A>G (p.Ile157Val) rs188718613
NM_001271208.2(NEB):c.4834C>T (p.Arg1612Cys) rs200545007
NM_001271208.2(NEB):c.4938C>T (p.Asn1646=) rs765208384
NM_001271208.2(NEB):c.4945_4947del (p.Tyr1649del) rs770192528
NM_001271208.2(NEB):c.4980C>T (p.Pro1660=) rs142074817
NM_001271208.2(NEB):c.5031+1G>A rs1553495140
NM_001271208.2(NEB):c.508-6G>A rs374227241
NM_001271208.2(NEB):c.5102T>C (p.Val1701Ala) rs117271684
NM_001271208.2(NEB):c.5121A>G (p.Ala1707=) rs371962475
NM_001271208.2(NEB):c.5181C>T (p.Tyr1727=) rs35016946
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.539A>G (p.Lys180Arg) rs200719359
NM_001271208.2(NEB):c.5411C>A (p.Ala1804Glu) rs78420579
NM_001271208.2(NEB):c.5420C>T (p.Ala1807Val) rs373790988
NM_001271208.2(NEB):c.5452-4A>G rs376623225
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.5571A>G (p.Glu1857=) rs201539560
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.571G>C (p.Glu191Gln) rs35686968
NM_001271208.2(NEB):c.5763+4C>T rs78916288
NM_001271208.2(NEB):c.5763+5G>A rs776167256
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.5853C>A (p.Ala1951=) rs757546480
NM_001271208.2(NEB):c.585C>T (p.Ala195=) rs374538366
NM_001271208.2(NEB):c.5905T>C (p.Tyr1969His) rs34532796
NM_001271208.2(NEB):c.5968G>A (p.Glu1990Lys) rs146310692
NM_001271208.2(NEB):c.5971-12dup rs551520922
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.6069G>A (p.Met2023Ile) rs184262608
NM_001271208.2(NEB):c.6078del (p.Lys2026fs) rs1057516758
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.6369G>A (p.Thr2123=) rs540542570
NM_001271208.2(NEB):c.6513T>C (p.Asp2171=) rs376535906
NM_001271208.2(NEB):c.6624G>A (p.Pro2208=) rs373278622
NM_001271208.2(NEB):c.6717T>G (p.Ile2239Met) rs78733601
NM_001271208.2(NEB):c.6807+10T>C rs375723456
NM_001271208.2(NEB):c.6807+6T>G rs10930723
NM_001271208.2(NEB):c.6817A>G (p.Lys2273Glu) rs199700878
NM_001271208.2(NEB):c.7010T>C (p.Val2337Ala) rs1558825869
NM_001271208.2(NEB):c.7126G>C (p.Val2376Leu) rs141155976
NM_001271208.2(NEB):c.718-6C>T rs371791129
NM_001271208.2(NEB):c.7185C>T (p.Asn2395=) rs775336786
NM_001271208.2(NEB):c.7209T>A (p.Val2403=) rs778083630
NM_001271208.2(NEB):c.7228-1G>A rs1057516996
NM_001271208.2(NEB):c.7233A>G (p.Leu2411=)
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.7374C>T (p.Ser2458=) rs1318587515
NM_001271208.2(NEB):c.7431+1919_7536+374del
NM_001271208.2(NEB):c.7514C>A (p.Ala2505Glu) rs35292878
NM_001271208.2(NEB):c.7581C>T (p.Tyr2527=) rs200425929
NM_001271208.2(NEB):c.7623C>T (p.Ala2541=) rs371570995
NM_001271208.2(NEB):c.7677C>T (p.Leu2559=) rs371565168
NM_001271208.2(NEB):c.771T>C (p.Ala257=) rs4611637
NM_001271208.2(NEB):c.780A>G (p.Pro260=) rs80255720
NM_001271208.2(NEB):c.7839G>C (p.Lys2613Asn) rs13013209
NM_001271208.2(NEB):c.7860C>T (p.Ser2620=) rs753267809
NM_001271208.2(NEB):c.7865T>G (p.Val2622Gly) rs563691738
NM_001271208.2(NEB):c.7875G>A (p.Lys2625=) rs577894144
NM_001271208.2(NEB):c.7914C>T (p.Ser2638=) rs373353657
NM_001271208.2(NEB):c.7953C>T (p.Ser2651=) rs183764569
NM_001271208.2(NEB):c.8019C>T (p.Leu2673=) rs755883171
NM_001271208.2(NEB):c.8031_8041del (p.Lys2677fs) rs398124172
NM_001271208.2(NEB):c.8063A>G (p.His2688Arg) rs201119402
NM_001271208.2(NEB):c.8189A>G (p.Asp2730Gly) rs76767949
NM_001271208.2(NEB):c.8202C>T (p.Val2734=) rs144595998
NM_001271208.2(NEB):c.8318G>A (p.Arg2773Gln) rs35974308
NM_001271208.2(NEB):c.8319G>T (p.Arg2773=) rs746644593
NM_001271208.2(NEB):c.8335A>G (p.Ile2779Val) rs114853127
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.8553G>A (p.Gly2851=) rs200624735
NM_001271208.2(NEB):c.8592T>C (p.Asp2864=) rs61730772
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.8860del (p.Ala2954fs) rs1553964158
NM_001271208.2(NEB):c.9046C>T (p.Arg3016Ter) rs1057517977
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.9428C>G (p.Ser3143Ter) rs1553939806
NM_001271208.2(NEB):c.9465C>G (p.Pro3155=) rs1021985219
NM_001271208.2(NEB):c.9465del (p.Ile3156fs) rs1553939600
NM_001271208.2(NEB):c.9467T>A (p.Ile3156Asn) rs145770770
NM_001271208.2(NEB):c.9468T>C (p.Ile3156=) rs751747575
NM_001271208.2(NEB):c.9540G>A (p.Pro3180=) rs373833313
NM_001271208.2(NEB):c.9619-2A>G rs375145370
NM_001271208.2(NEB):c.9619-9C>T rs778009768
NM_001271208.2(NEB):c.9832-7A>T rs778183317
NM_001271208.2(NEB):c.984C>T (p.Thr328=) rs199969138
NM_001271208.2(NEB):c.9865G>A (p.Gly3289Ser) rs75639119

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