ClinVar Miner

List of variants in gene NEB reported as uncertain significance

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 856
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HGVS dbSNP
NM_001271208.1(NEB):c.21213_21218del (p.Tyr7072_Lys7073del) rs1553683577
NM_001271208.1(NEB):c.7651_7656del6 (p.Tyr2551_Lys2552del) rs1553983947
NM_001271208.2(NEB):c.-114+3A>G rs772077208
NM_001271208.2(NEB):c.-167G>T rs886054948
NM_001271208.2(NEB):c.10021G>T (p.Ala3341Ser)
NM_001271208.2(NEB):c.10026G>C (p.Lys3342Asn)
NM_001271208.2(NEB):c.10029G>C (p.Lys3343Asn)
NM_001271208.2(NEB):c.10037C>T (p.Thr3346Ile) rs1560628791
NM_001271208.2(NEB):c.10075G>A (p.Glu3359Lys)
NM_001271208.2(NEB):c.10080G>T (p.Trp3360Cys)
NM_001271208.2(NEB):c.10092C>T (p.Pro3364=) rs768708852
NM_001271208.2(NEB):c.10118G>A (p.Arg3373Gln) rs568814745
NM_001271208.2(NEB):c.10127A>G (p.Tyr3376Cys) rs754298562
NM_001271208.2(NEB):c.10141G>A (p.Asp3381Asn) rs374760449
NM_001271208.2(NEB):c.10144-10_10144-9delinsG rs1553928417
NM_001271208.2(NEB):c.1015G>A (p.Ala339Thr)
NM_001271208.2(NEB):c.10181T>C (p.Ile3394Thr) rs376182104
NM_001271208.2(NEB):c.10196T>C (p.Ile3399Thr) rs377734027
NM_001271208.2(NEB):c.10201T>A (p.Ser3401Thr) rs199847072
NM_001271208.2(NEB):c.10213G>T (p.Val3405Phe) rs1553927988
NM_001271208.2(NEB):c.10217A>G (p.Lys3406Arg)
NM_001271208.2(NEB):c.10223A>G (p.Lys3408Arg)
NM_001271208.2(NEB):c.10228G>A (p.Ala3410Thr)
NM_001271208.2(NEB):c.10231G>A (p.Ala3411Thr) rs727504034
NM_001271208.2(NEB):c.10231G>T (p.Ala3411Ser)
NM_001271208.2(NEB):c.10233T>C (p.Ala3411=) rs727504033
NM_001271208.2(NEB):c.10258C>T (p.Arg3420Cys) rs201596787
NM_001271208.2(NEB):c.10268C>T (p.Pro3423Leu) rs753198978
NM_001271208.2(NEB):c.10341G>A (p.Met3447Ile) rs370053963
NM_001271208.2(NEB):c.10348C>T (p.Arg3450Cys)
NM_001271208.2(NEB):c.1035+6A>G
NM_001271208.2(NEB):c.10433A>G (p.Asn3478Ser)
NM_001271208.2(NEB):c.10434T>C (p.Asn3478=) rs375543045
NM_001271208.2(NEB):c.10452+5G>A
NM_001271208.2(NEB):c.1045A>C (p.Lys349Gln) rs369153778
NM_001271208.2(NEB):c.10537G>A (p.Ala3513Thr) rs1560541262
NM_001271208.2(NEB):c.10583G>A (p.Arg3528His) rs199584268
NM_001271208.2(NEB):c.105G>A (p.Thr35=) rs368075131
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.10660A>G (p.Lys3554Glu) rs1553912139
NM_001271208.2(NEB):c.10676G>A (p.Arg3559His)
NM_001271208.2(NEB):c.10706A>G (p.Lys3569Arg)
NM_001271208.2(NEB):c.10744G>A (p.Val3582Ile) rs139798654
NM_001271208.2(NEB):c.107_109CAA[1] (p.Thr37del) rs1553698850
NM_001271208.2(NEB):c.10802A>G (p.His3601Arg) rs371568550
NM_001271208.2(NEB):c.10809_10810delinsCG (p.Trp3603_Ile3604delinsCysVal)
NM_001271208.2(NEB):c.10817_10819del (p.Leu3606del) rs1553911586
NM_001271208.2(NEB):c.10833_10835CAT[1] (p.Ile3613del) rs773748212
NM_001271208.2(NEB):c.10856A>G (p.Tyr3619Cys)
NM_001271208.2(NEB):c.10860C>A (p.Asp3620Glu) rs748243107
NM_001271208.2(NEB):c.10861C>G (p.Leu3621Val)
NM_001271208.2(NEB):c.10913G>T (p.Gly3638Val)
NM_001271208.2(NEB):c.10955G>A (p.Arg3652Lys) rs1553908653
NM_001271208.2(NEB):c.11025G>A (p.Thr3675=) rs199789085
NM_001271208.2(NEB):c.11032C>G (p.Pro3678Ala) rs879255369
NM_001271208.2(NEB):c.11037G>A (p.Glu3679=) rs886054942
NM_001271208.2(NEB):c.11072A>G (p.Asn3691Ser)
NM_001271208.2(NEB):c.11076+12A>G rs201250579
NM_001271208.2(NEB):c.11077C>T (p.Arg3693Cys) rs539139958
NM_001271208.2(NEB):c.11116A>G (p.Ile3706Val) rs199551865
NM_001271208.2(NEB):c.11133T>C (p.Asp3711=) rs547109690
NM_001271208.2(NEB):c.11165G>A (p.Arg3722Gln) rs757027644
NM_001271208.2(NEB):c.11181+3A>G rs1448725511
NM_001271208.2(NEB):c.1119G>A (p.Arg373=) rs200914626
NM_001271208.2(NEB):c.11215A>C (p.Lys3739Gln) rs267598922
NM_001271208.2(NEB):c.11221G>A (p.Gly3741Ser) rs375657086
NM_001271208.2(NEB):c.11234G>T (p.Arg3745Leu) rs765379397
NM_001271208.2(NEB):c.11295_11297del (p.Lys3765_Tyr3766delinsAsn) rs1553898232
NM_001271208.2(NEB):c.11300A>G (p.Lys3767Arg)
NM_001271208.2(NEB):c.11312G>T (p.Arg3771Leu)
NM_001271208.2(NEB):c.11333T>C (p.Ile3778Thr) rs200270156
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.11440A>G (p.Lys3814Glu) rs1553897365
NM_001271208.2(NEB):c.11450G>A (p.Ser3817Asn) rs776337697
NM_001271208.2(NEB):c.11457G>A (p.Val3819=) rs780152095
NM_001271208.2(NEB):c.11461A>T (p.Met3821Leu) rs1057524782
NM_001271208.2(NEB):c.11467G>C (p.Gly3823Arg)
NM_001271208.2(NEB):c.1152+5G>A rs111404077
NM_001271208.2(NEB):c.1152C>T (p.Asp384=)
NM_001271208.2(NEB):c.11575C>T (p.Arg3859Trp) rs562669490
NM_001271208.2(NEB):c.11581G>T (p.Ala3861Ser) rs750748717
NM_001271208.2(NEB):c.11602-13A>T rs886054941
NM_001271208.2(NEB):c.11615C>G (p.Ser3872Cys) rs886054940
NM_001271208.2(NEB):c.11621T>C (p.Leu3874Pro) rs1131691534
NM_001271208.2(NEB):c.1162A>G (p.Lys388Glu) rs1159204491
NM_001271208.2(NEB):c.11654T>A (p.Ile3885Asn)
NM_001271208.2(NEB):c.11683A>G (p.Arg3895Gly) rs1015014078
NM_001271208.2(NEB):c.11754C>T (p.Thr3918=) rs368230090
NM_001271208.2(NEB):c.11755G>A (p.Asp3919Asn) rs201483656
NM_001271208.2(NEB):c.11755G>T (p.Asp3919Tyr) rs201483656
NM_001271208.2(NEB):c.11777C>G (p.Ala3926Gly)
NM_001271208.2(NEB):c.11798T>C (p.Met3933Thr) rs772235127
NM_001271208.2(NEB):c.11806-7C>A rs779713133
NM_001271208.2(NEB):c.11828A>G (p.Asp3943Gly) rs371102558
NM_001271208.2(NEB):c.11851G>A (p.Val3951Met) rs759624618
NM_001271208.2(NEB):c.1187C>T (p.Ala396Val)
NM_001271208.2(NEB):c.11891A>T (p.Asn3964Ile) rs1560398552
NM_001271208.2(NEB):c.11954A>G (p.Tyr3985Cys) rs745504838
NM_001271208.2(NEB):c.11974A>G (p.Ile3992Val) rs1465332264
NM_001271208.2(NEB):c.11980A>G (p.Ile3994Val)
NM_001271208.2(NEB):c.11982C>A (p.Ile3994=) rs780157705
NM_001271208.2(NEB):c.1206C>T (p.Cys402=) rs199695976
NM_001271208.2(NEB):c.12074G>T (p.Ser4025Ile) rs767858255
NM_001271208.2(NEB):c.1209G>T (p.Glu403Asp)
NM_001271208.2(NEB):c.1211C>T (p.Thr404Ile) rs200585609
NM_001271208.2(NEB):c.12176C>G (p.Ser4059Cys)
NM_001271208.2(NEB):c.12200T>C (p.Ile4067Thr)
NM_001271208.2(NEB):c.1221C>G (p.Phe407Leu) rs1033938609
NM_001271208.2(NEB):c.12234T>A (p.Thr4078=) rs752937326
NM_001271208.2(NEB):c.12239T>C (p.Ile4080Thr)
NM_001271208.2(NEB):c.12247C>T (p.Arg4083Cys) rs368383341
NM_001271208.2(NEB):c.12248G>A (p.Arg4083His)
NM_001271208.2(NEB):c.12251A>G (p.Asn4084Ser)
NM_001271208.2(NEB):c.1225C>T (p.Leu409Phe) rs373883986
NM_001271208.2(NEB):c.12278C>T (p.Pro4093Leu) rs749270501
NM_001271208.2(NEB):c.12279G>A (p.Pro4093=) rs367638234
NM_001271208.2(NEB):c.1227C>G (p.Leu409=) rs371658494
NM_001271208.2(NEB):c.12298C>G (p.Gln4100Glu)
NM_001271208.2(NEB):c.1229A>C (p.Asp410Ala)
NM_001271208.2(NEB):c.12369C>G (p.Ile4123Met) rs1277282343
NM_001271208.2(NEB):c.12370G>A (p.Gly4124Ser) rs1227592399
NM_001271208.2(NEB):c.12382G>A (p.Glu4128Lys) rs1553877949
NM_001271208.2(NEB):c.12395A>G (p.Glu4132Gly) rs1553877904
NM_001271208.2(NEB):c.12406G>A (p.Val4136Met) rs1553877868
NM_001271208.2(NEB):c.12407T>G (p.Val4136Gly) rs1553877860
NM_001271208.2(NEB):c.12413T>G (p.Val4138Gly) rs1553877811
NM_001271208.2(NEB):c.12443A>G (p.Tyr4148Cys) rs1553877721
NM_001271208.2(NEB):c.12490C>T (p.Pro4164Ser) rs1553877565
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.12550G>A (p.Ala4184Thr) rs1553877049
NM_001271208.2(NEB):c.1257+13A>T rs75320668
NM_001271208.2(NEB):c.1258-7C>G rs371265681
NM_001271208.2(NEB):c.12596C>T (p.Pro4199Leu) rs1365594299
NM_001271208.2(NEB):c.12597G>A (p.Pro4199=)
NM_001271208.2(NEB):c.12601A>T (p.Met4201Leu) rs1553876833
NM_001271208.2(NEB):c.12662A>G (p.Asn4221Ser) rs1553875590
NM_001271208.2(NEB):c.12686A>G (p.Asp4229Gly) rs1553875409
NM_001271208.2(NEB):c.12688A>G (p.Ile4230Val) rs532986882
NM_001271208.2(NEB):c.12747+5G>A rs1251007091
NM_001271208.2(NEB):c.12769C>T (p.Arg4257Cys) rs1376744526
NM_001271208.2(NEB):c.12770G>A (p.Arg4257His) rs576918934
NM_001271208.2(NEB):c.12790A>G (p.Met4264Val) rs1363996930
NM_001271208.2(NEB):c.127G>C (p.Glu43Gln)
NM_001271208.2(NEB):c.12800G>A (p.Arg4267His) rs1049044616
NM_001271208.2(NEB):c.12808C>A (p.Gln4270Lys) rs1057524648
NM_001271208.2(NEB):c.1285G>T (p.Asp429Tyr)
NM_001271208.2(NEB):c.12902A>T (p.His4301Leu) rs1553872062
NM_001271208.2(NEB):c.12905A>T (p.Asn4302Ile) rs886038429
NM_001271208.2(NEB):c.12911C>T (p.Pro4304Leu) rs1456001729
NM_001271208.2(NEB):c.12922A>G (p.Met4308Val) rs1553871982
NM_001271208.2(NEB):c.12976C>T (p.Arg4326Cys) rs1270122330
NM_001271208.2(NEB):c.12977G>A (p.Arg4326His) rs1429486273
NM_001271208.2(NEB):c.12C>T (p.Asp4=) rs117178114
NM_001271208.2(NEB):c.13018G>A (p.Asp4340Asn) rs1462818722
NM_001271208.2(NEB):c.13052A>G (p.Gln4351Arg) rs1553871396
NM_001271208.2(NEB):c.13056C>A (p.Ser4352Arg) rs1468240932
NM_001271208.2(NEB):c.13059+4C>T rs1253831275
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.1310G>A (p.Ser437Asn)
NM_001271208.2(NEB):c.13132A>G (p.Arg4378Gly) rs1189557869
NM_001271208.2(NEB):c.1316A>G (p.Glu439Gly) rs1553608272
NM_001271208.2(NEB):c.13175G>A (p.Arg4392His) rs772352938
NM_001271208.2(NEB):c.13204A>G (p.Ser4402Gly) rs1475846023
NM_001271208.2(NEB):c.13263+8C>T rs1553866957
NM_001271208.2(NEB):c.13349_13353delinsGTGCT (p.Asn4450Ser) rs1553865895
NM_001271208.2(NEB):c.13368+6A>G rs886038433
NM_001271208.2(NEB):c.13369-14CT[2] rs1553865749
NM_001271208.2(NEB):c.13370A>C (p.Lys4457Thr) rs1057521174
NM_001271208.2(NEB):c.13406C>T (p.Thr4469Ile) rs1192545815
NM_001271208.2(NEB):c.13411T>A (p.Tyr4471Asn) rs1057521720
NM_001271208.2(NEB):c.13456T>A (p.Ser4486Thr) rs886038434
NM_001271208.2(NEB):c.13460G>T (p.Arg4487Met) rs1553865625
NM_001271208.2(NEB):c.13465A>C (p.Ile4489Leu) rs1553865611
NM_001271208.2(NEB):c.13466T>C (p.Ile4489Thr) rs1433188091
NM_001271208.2(NEB):c.13475_13476delinsTT (p.Asp4492Val) rs1553865579
NM_001271208.2(NEB):c.13520T>C (p.Ile4507Thr) rs1553862732
NM_001271208.2(NEB):c.13534G>A (p.Ala4512Thr) rs886038435
NM_001271208.2(NEB):c.1365+14C>A rs750849844
NM_001271208.2(NEB):c.1365+5G>T rs1553607969
NM_001271208.2(NEB):c.13651G>A (p.Val4551Met) rs1553862399
NM_001271208.2(NEB):c.1366-4A>G rs886038438
NM_001271208.2(NEB):c.13661G>A (p.Ser4554Asn) rs1057522021
NM_001271208.2(NEB):c.13706G>A (p.Arg4569His) rs1216367965
NM_001271208.2(NEB):c.13717C>T (p.His4573Tyr) rs1553862206
NM_001271208.2(NEB):c.13753A>G (p.Ile4585Val) rs886038440
NM_001271208.2(NEB):c.13754T>C (p.Ile4585Thr) rs1553862132
NM_001271208.2(NEB):c.13G>A (p.Glu5Lys) rs374390581
NM_001271208.2(NEB):c.1413C>T (p.Phe471=) rs112958786
NM_001271208.2(NEB):c.1470+2dup rs1477702016
NM_001271208.2(NEB):c.1470C>T (p.Asp490=) rs778189876
NM_001271208.2(NEB):c.1478A>G (p.Tyr493Cys)
NM_001271208.2(NEB):c.1493A>G (p.Asp498Gly) rs1255744452
NM_001271208.2(NEB):c.1504T>C (p.Phe502Leu)
NM_001271208.2(NEB):c.15237A>G (p.Leu5079=) rs1057522592
NM_001271208.2(NEB):c.1528G>T (p.Val510Phe)
NM_001271208.2(NEB):c.15363G>C (p.Arg5121Ser) rs1553847636
NM_001271208.2(NEB):c.153_167del (p.52_56LAQPA[1]) rs757726895
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.154_168CTGGCACAGCCAGCA[3] (p.52_56LAQPA[3]) rs377452683
NM_001271208.2(NEB):c.1550A>G (p.Asn517Ser) rs199710125
NM_001271208.2(NEB):c.15633C>G (p.His5211Gln) rs1560220725
NM_001271208.2(NEB):c.1569+3A>T
NM_001271208.2(NEB):c.15882C>T (p.Asp5294=) rs1553845691
NM_001271208.2(NEB):c.1610G>A (p.Cys537Tyr)
NM_001271208.2(NEB):c.1618C>G (p.Pro540Ala) rs1271816542
NM_001271208.2(NEB):c.16192G>A (p.Asp5398Asn) rs750810441
NM_001271208.2(NEB):c.1621C>G (p.Pro541Ala) rs1324280943
NM_001271208.2(NEB):c.16396C>G (p.Leu5466Val) rs1394442771
NM_001271208.2(NEB):c.1648A>G (p.Lys550Glu) rs756920047
NM_001271208.2(NEB):c.1649_1651del (p.Lys550_Val551delinsIle) rs746163908
NM_001271208.2(NEB):c.16637G>A (p.Arg5546His) rs201111610
NM_001271208.2(NEB):c.1675-8_1675-7del rs749876066
NM_001271208.2(NEB):c.16790C>G (p.Ala5597Gly) rs777969701
NM_001271208.2(NEB):c.16817A>G (p.Tyr5606Cys) rs372049328
NM_001271208.2(NEB):c.16823C>T (p.Thr5608Met)
NM_001271208.2(NEB):c.16824G>C (p.Thr5608=) rs531949723
NM_001271208.2(NEB):c.16875C>T (p.Val5625=) rs757882235
NM_001271208.2(NEB):c.16954A>G (p.Ile5652Val) rs767425744
NM_001271208.2(NEB):c.16954A>T (p.Ile5652Leu)
NM_001271208.2(NEB):c.16958T>C (p.Met5653Thr) rs763012000
NM_001271208.2(NEB):c.16967C>T (p.Thr5656Ile)
NM_001271208.2(NEB):c.17023C>G (p.Arg5675Gly)
NM_001271208.2(NEB):c.17024G>T (p.Arg5675Leu) rs373850451
NM_001271208.2(NEB):c.17048C>T (p.Ala5683Val) rs761829162
NM_001271208.2(NEB):c.17049G>T (p.Ala5683=) rs140688592
NM_001271208.2(NEB):c.17061C>G (p.Val5687=) rs199756204
NM_001271208.2(NEB):c.17101A>G (p.Arg5701Gly) rs1332674015
NM_001271208.2(NEB):c.17114G>A (p.Ser5705Asn)
NM_001271208.2(NEB):c.17118C>T (p.Asp5706=) rs769476760
NM_001271208.2(NEB):c.17129A>G (p.Lys5710Arg)
NM_001271208.2(NEB):c.17156A>T (p.His5719Leu) rs776095941
NM_001271208.2(NEB):c.17183A>T (p.Asp5728Val) rs756098317
NM_001271208.2(NEB):c.17193G>A (p.Lys5731=) rs886054939
NM_001271208.2(NEB):c.17198G>A (p.Arg5733His)
NM_001271208.2(NEB):c.17198G>T (p.Arg5733Leu)
NM_001271208.2(NEB):c.17200T>C (p.Trp5734Arg)
NM_001271208.2(NEB):c.17203G>A (p.Ala5735Thr) rs202111641
NM_001271208.2(NEB):c.17215G>A (p.Asp5739Asn)
NM_001271208.2(NEB):c.17234G>A (p.Arg5745Gln)
NM_001271208.2(NEB):c.17242C>T (p.Arg5748Trp)
NM_001271208.2(NEB):c.1729G>A (p.Val577Met) rs1419317928
NM_001271208.2(NEB):c.17341G>C (p.Asp5781His) rs897368602
NM_001271208.2(NEB):c.17347C>T (p.Arg5783Cys)
NM_001271208.2(NEB):c.1735G>T (p.Ala579Ser) rs758068422
NM_001271208.2(NEB):c.17371T>C (p.Cys5791Arg) rs1553788021
NM_001271208.2(NEB):c.17376_17381del (p.Met5792_Asp5794delinsIle)
NM_001271208.2(NEB):c.17396T>C (p.Ile5799Thr)
NM_001271208.2(NEB):c.17401G>A (p.Ala5801Thr) rs1204919597
NM_001271208.2(NEB):c.17404_17406AAG[1] (p.Lys5803del) rs1553787578
NM_001271208.2(NEB):c.17415C>T (p.Tyr5805=) rs555516831
NM_001271208.2(NEB):c.17416G>A (p.Glu5806Lys)
NM_001271208.2(NEB):c.17462G>A (p.Arg5821His) rs773239926
NM_001271208.2(NEB):c.17479C>T (p.Pro5827Ser) rs1560050173
NM_001271208.2(NEB):c.1748T>C (p.Leu583Pro) rs794727227
NM_001271208.2(NEB):c.17491G>A (p.Val5831Met)
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.17518G>A (p.Ala5840Thr)
NM_001271208.2(NEB):c.17520G>A (p.Ala5840=) rs372786852
NM_001271208.2(NEB):c.17535+3A>G rs1553784210
NM_001271208.2(NEB):c.17543A>G (p.Tyr5848Cys)
NM_001271208.2(NEB):c.17573C>T (p.Thr5858Met) rs747699601
NM_001271208.2(NEB):c.17588G>C (p.Arg5863Thr) rs727504032
NM_001271208.2(NEB):c.17619C>T (p.Gly5873=)
NM_001271208.2(NEB):c.17627T>C (p.Leu5876Pro) rs1181510782
NM_001271208.2(NEB):c.17635-15_17635-14dup rs3214503
NM_001271208.2(NEB):c.17635-3del rs3214503
NM_001271208.2(NEB):c.17644C>T (p.Arg5882Trp) rs769673154
NM_001271208.2(NEB):c.17645G>A (p.Arg5882Gln) rs558345996
NM_001271208.2(NEB):c.17677A>G (p.Thr5893Ala) rs762095177
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.1782+4_1782+5del rs398124168
NM_001271208.2(NEB):c.17838G>A (p.Gln5946=) rs376199241
NM_001271208.2(NEB):c.17865T>G (p.His5955Gln) rs1394078245
NM_001271208.2(NEB):c.17887G>A (p.Val5963Ile) rs138217960
NM_001271208.2(NEB):c.17897C>T (p.Pro5966Leu) rs368912483
NM_001271208.2(NEB):c.17900C>T (p.Thr5967Met)
NM_001271208.2(NEB):c.17913T>A (p.Asp5971Glu) rs1167894918
NM_001271208.2(NEB):c.17919G>C (p.Lys5973Asn) rs752928207
NM_001271208.2(NEB):c.17931T>C (p.Phe5977=) rs886054938
NM_001271208.2(NEB):c.17938G>A (p.Ala5980Thr) rs1267739726
NM_001271208.2(NEB):c.17965T>A (p.Tyr5989Asn) rs752113075
NM_001271208.2(NEB):c.18064A>G (p.Ile6022Val) rs574746662
NM_001271208.2(NEB):c.18073C>T (p.Arg6025Cys) rs765174060
NM_001271208.2(NEB):c.18074G>A (p.Arg6025His) rs751957350
NM_001271208.2(NEB):c.18115G>A (p.Asp6039Asn) rs377076154
NM_001271208.2(NEB):c.18127G>A (p.Ala6043Thr) rs1553775860
NM_001271208.2(NEB):c.18140A>G (p.Tyr6047Cys) rs533393007
NM_001271208.2(NEB):c.18152G>A (p.Ser6051Asn)
NM_001271208.2(NEB):c.18262-13C>T rs374553944
NM_001271208.2(NEB):c.1826T>C (p.Ile609Thr) rs748239538
NM_001271208.2(NEB):c.1828G>A (p.Gly610Arg)
NM_001271208.2(NEB):c.1829G>A (p.Gly610Glu) rs139125293
NM_001271208.2(NEB):c.18398A>G (p.Lys6133Arg) rs199594449
NM_001271208.2(NEB):c.18410C>T (p.Thr6137Met)
NM_001271208.2(NEB):c.18431A>G (p.His6144Arg) rs34504204
NM_001271208.2(NEB):c.18439C>T (p.His6147Tyr)
NM_001271208.2(NEB):c.18488C>T (p.Ala6163Val) rs201529683
NM_001271208.2(NEB):c.18496G>A (p.Gly6166Ser) rs1239862833
NM_001271208.2(NEB):c.18510_18515del (p.Gly6171_Tyr6172del) rs1553767010
NM_001271208.2(NEB):c.18530G>A (p.Arg6177His) rs147159176
NM_001271208.2(NEB):c.18542T>C (p.Ile6181Thr)
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+11C>T rs567282220
NM_001271208.2(NEB):c.18596C>T (p.Thr6199Ile)
NM_001271208.2(NEB):c.18622C>G (p.Leu6208Val)
NM_001271208.2(NEB):c.18646T>C (p.Phe6216Leu) rs202211102
NM_001271208.2(NEB):c.18692C>T (p.Ala6231Val) rs375357016
NM_001271208.2(NEB):c.18694-3T>C
NM_001271208.2(NEB):c.18694-6_18694-2del rs1377029367
NM_001271208.2(NEB):c.18724A>G (p.Lys6242Glu) rs886054937
NM_001271208.2(NEB):c.1872G>T (p.Leu624Phe) rs775430225
NM_001271208.2(NEB):c.18742C>T (p.Pro6248Ser) rs189541265
NM_001271208.2(NEB):c.18746A>G (p.Asn6249Ser) rs550191566
NM_001271208.2(NEB):c.18783G>A (p.Gln6261=) rs148095660
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.18809G>A (p.Arg6270Gln)
NM_001271208.2(NEB):c.18809_18811del (p.Arg6270del) rs1553762776
NM_001271208.2(NEB):c.18830C>T (p.Thr6277Met)
NM_001271208.2(NEB):c.1883A>C (p.Lys628Thr)
NM_001271208.2(NEB):c.18842A>G (p.Glu6281Gly) rs768965998
NM_001271208.2(NEB):c.18859C>T (p.Arg6287Cys)
NM_001271208.2(NEB):c.18862G>A (p.Val6288Ile) rs201886728
NM_001271208.2(NEB):c.18866G>A (p.Arg6289Gln)
NM_001271208.2(NEB):c.18918G>T (p.Trp6306Cys) rs1559952676
NM_001271208.2(NEB):c.18953C>T (p.Pro6318Leu) rs267598920
NM_001271208.2(NEB):c.1896T>A (p.Asp632Glu)
NM_001271208.2(NEB):c.1899A>T (p.Arg633Ser) rs77826191
NM_001271208.2(NEB):c.19030C>T (p.Gln6344Ter) rs1559940778
NM_001271208.2(NEB):c.19056G>T (p.Thr6352=) rs115631125
NM_001271208.2(NEB):c.19082G>A (p.Ser6361Asn)
NM_001271208.2(NEB):c.19101+5G>A rs374929094
NM_001271208.2(NEB):c.19137C>T (p.Asp6379=) rs778962225
NM_001271208.2(NEB):c.19157A>G (p.Glu6386Gly) rs200056050
NM_001271208.2(NEB):c.1916A>G (p.Tyr639Cys) rs1559315113
NM_001271208.2(NEB):c.19214A>G (p.Tyr6405Cys) rs368240939
NM_001271208.2(NEB):c.19219G>A (p.Glu6407Lys) rs144539316
NM_001271208.2(NEB):c.19301A>C (p.His6434Pro)
NM_001271208.2(NEB):c.19311C>T (p.Ser6437=) rs16830216
NM_001271208.2(NEB):c.19324C>T (p.Arg6442Trp)
NM_001271208.2(NEB):c.19325G>A (p.Arg6442Gln)
NM_001271208.2(NEB):c.19358C>T (p.Thr6453Met)
NM_001271208.2(NEB):c.19363C>T (p.Pro6455Ser) rs377112785
NM_001271208.2(NEB):c.19397G>A (p.Arg6466Gln) rs747425038
NM_001271208.2(NEB):c.19400G>C (p.Cys6467Ser)
NM_001271208.2(NEB):c.19406G>A (p.Arg6469Gln) rs556624010
NM_001271208.2(NEB):c.1941G>T (p.Met647Ile) rs759747841
NM_001271208.2(NEB):c.19428+8C>A rs773614835
NM_001271208.2(NEB):c.19428+8_19428+9insA rs886054936
NM_001271208.2(NEB):c.1942A>T (p.Asn648Tyr) rs1553592578
NM_001271208.2(NEB):c.19455G>A (p.Lys6485=) rs182847302
NM_001271208.2(NEB):c.19477G>A (p.Val6493Met) rs1233717326
NM_001271208.2(NEB):c.19477G>C (p.Val6493Leu) rs1233717326
NM_001271208.2(NEB):c.19486A>G (p.Met6496Val)
NM_001271208.2(NEB):c.194C>T (p.Pro65Leu) rs375909006
NM_001271208.2(NEB):c.19518_19520GAA[1] (p.Lys6508del) rs1553736221
NM_001271208.2(NEB):c.1952A>T (p.Glu651Val) rs1553592436
NM_001271208.2(NEB):c.1953G>A (p.Glu651=) rs367997645
NM_001271208.2(NEB):c.19543C>T (p.Arg6515Cys) rs765363585
NM_001271208.2(NEB):c.19544G>A (p.Arg6515His) rs757278862
NM_001271208.2(NEB):c.1957C>T (p.Pro653Ser)
NM_001271208.2(NEB):c.19593T>C (p.Asp6531=) rs886054935
NM_001271208.2(NEB):c.19597G>A (p.Val6533Ile) rs368484176
NM_001271208.2(NEB):c.19613A>T (p.Asp6538Val)
NM_001271208.2(NEB):c.19626T>C (p.Asp6542=) rs190336010
NM_001271208.2(NEB):c.19675G>A (p.Val6559Ile)
NM_001271208.2(NEB):c.19686T>G (p.Thr6562=) rs886054934
NM_001271208.2(NEB):c.19699C>A (p.His6567Asn) rs886054933
NM_001271208.2(NEB):c.19722A>G (p.Leu6574=) rs141526973
NM_001271208.2(NEB):c.19724G>T (p.Arg6575Leu) rs185999504
NM_001271208.2(NEB):c.19751T>G (p.Met6584Arg) rs190605644
NM_001271208.2(NEB):c.19801G>A (p.Val6601Met)
NM_001271208.2(NEB):c.1981C>T (p.Leu661=) rs146460133
NM_001271208.2(NEB):c.19826A>T (p.Gln6609Leu) rs1553730155
NM_001271208.2(NEB):c.19836C>T (p.Asp6612=) rs371194689
NM_001271208.2(NEB):c.19865G>A (p.Ser6622Asn) rs144168709
NM_001271208.2(NEB):c.19894A>G (p.Lys6632Glu) rs765189771
NM_001271208.2(NEB):c.19901T>C (p.Val6634Ala) rs771989092
NM_001271208.2(NEB):c.19919T>G (p.Leu6640Arg) rs886054932
NM_001271208.2(NEB):c.19939A>G (p.Ser6647Gly) rs1559830688
NM_001271208.2(NEB):c.19944+7A>G
NM_001271208.2(NEB):c.19944G>A (p.Ser6648=) rs201553266
NM_001271208.2(NEB):c.19966C>T (p.Arg6656Cys) rs527250558
NM_001271208.2(NEB):c.19967G>C (p.Arg6656Pro) rs767200761
NM_001271208.2(NEB):c.19989A>T (p.Arg6663Ser) rs755153044
NM_001271208.2(NEB):c.19993C>T (p.Pro6665Ser) rs751724804
NM_001271208.2(NEB):c.1999G>A (p.Ala667Thr) rs750186349
NM_001271208.2(NEB):c.20021_20023del (p.Ile6674del)
NM_001271208.2(NEB):c.20032C>T (p.Arg6678Cys) rs200239095
NM_001271208.2(NEB):c.20098C>A (p.Leu6700Ile) rs202139330
NM_001271208.2(NEB):c.20099T>C (p.Leu6700Pro)
NM_001271208.2(NEB):c.20131C>T (p.Arg6711Trp) rs533233215
NM_001271208.2(NEB):c.20144A>G (p.Asn6715Ser) rs536934629
NM_001271208.2(NEB):c.20158-6A>G rs1553715636
NM_001271208.2(NEB):c.20162T>C (p.Leu6721Pro) rs111517514
NM_001271208.2(NEB):c.2020G>A (p.Val674Ile) rs775553284
NM_001271208.2(NEB):c.20212G>A (p.Asp6738Asn) rs201337732
NM_001271208.2(NEB):c.20228G>A (p.Arg6743His) rs755370356
NM_001271208.2(NEB):c.20245C>A (p.Gln6749Lys) rs772854423
NM_001271208.2(NEB):c.20260G>A (p.Glu6754Lys) rs776334631
NM_001271208.2(NEB):c.20296G>T (p.Gly6766Cys) rs886042143
NM_001271208.2(NEB):c.20315C>T (p.Pro6772Leu) rs1559782362
NM_001271208.2(NEB):c.20332A>G (p.Ile6778Val) rs753409626
NM_001271208.2(NEB):c.20367+15G>C rs886054931
NM_001271208.2(NEB):c.20371A>G (p.Lys6791Glu)
NM_001271208.2(NEB):c.203G>A (p.Arg68Lys) rs1014627144
NM_001271208.2(NEB):c.20437G>A (p.Val6813Ile)
NM_001271208.2(NEB):c.20440C>T (p.Arg6814Cys)
NM_001271208.2(NEB):c.20441G>A (p.Arg6814His) rs773584363
NM_001271208.2(NEB):c.20442_20447dup (p.Ser6815_Arg6816dup) rs760783104
NM_001271208.2(NEB):c.20467-20_20467-18dup rs10687343
NM_001271208.2(NEB):c.20467-20_20467-19dup rs10687343
NM_001271208.2(NEB):c.20467-20dup rs10687343
NM_001271208.2(NEB):c.20577+6G>A rs775513148
NM_001271208.2(NEB):c.20578-6G>A rs376710012
NM_001271208.2(NEB):c.2062C>G (p.Pro688Ala)
NM_001271208.2(NEB):c.2062C>T (p.Pro688Ser) rs750276279
NM_001271208.2(NEB):c.20654C>T (p.Ala6885Val) rs202209668
NM_001271208.2(NEB):c.20671C>T (p.Leu6891Phe) rs182866658
NM_001271208.2(NEB):c.20711A>G (p.Glu6904Gly) rs886054930
NM_001271208.2(NEB):c.20721_20723TCA[1] (p.His6909del) rs1553696713
NM_001271208.2(NEB):c.20728G>A (p.Ala6910Thr) rs750152377
NM_001271208.2(NEB):c.20763_20774del (p.Lys6921_Asp6925delinsAsn) rs1553696371
NM_001271208.2(NEB):c.20766C>T (p.Asp6922=) rs34555492
NM_001271208.2(NEB):c.20776A>G (p.Met6926Val) rs1559707924
NM_001271208.2(NEB):c.20777T>C (p.Met6926Thr) rs763737123
NM_001271208.2(NEB):c.20846C>T (p.Thr6949Met)
NM_001271208.2(NEB):c.20892T>G (p.Asp6964Glu) rs1553694845
NM_001271208.2(NEB):c.20897G>A (p.Arg6966His)
NM_001271208.2(NEB):c.20906A>T (p.Glu6969Val) rs371680259
NM_001271208.2(NEB):c.20933A>G (p.Tyr6978Cys)
NM_001271208.2(NEB):c.20941G>A (p.Val6981Met)
NM_001271208.2(NEB):c.20945A>T (p.Lys6982Ile)
NM_001271208.2(NEB):c.20956G>C (p.Asp6986His) rs150874422
NM_001271208.2(NEB):c.20972G>A (p.Arg6991His)
NM_001271208.2(NEB):c.20977G>A (p.Val6993Ile)
NM_001271208.2(NEB):c.21010_21012del (p.Glu7004del) rs770208836
NM_001271208.2(NEB):c.21044C>G (p.Ser7015Cys) rs62167164
NM_001271208.2(NEB):c.2106+3A>C rs1553589058
NM_001271208.2(NEB):c.21102T>C (p.Asp7034=) rs531711771
NM_001271208.2(NEB):c.21173C>T (p.Thr7058Ile) rs200523155
NM_001271208.2(NEB):c.21196C>A (p.Leu7066Ile) rs1428589113
NM_001271208.2(NEB):c.21209A>G (p.Tyr7070Cys) rs754366347
NM_001271208.2(NEB):c.21229G>A (p.Glu7077Lys) rs886042384
NM_001271208.2(NEB):c.2122G>A (p.Glu708Lys) rs1553587676
NM_001271208.2(NEB):c.21238_21243del (p.Lys7080_Ser7081del) rs1553683478
NM_001271208.2(NEB):c.21268C>G (p.Pro7090Ala)
NM_001271208.2(NEB):c.21312+5G>A
NM_001271208.2(NEB):c.21340C>T (p.Arg7114Trp) rs186686151
NM_001271208.2(NEB):c.21341G>A (p.Arg7114Gln) rs372284984
NM_001271208.2(NEB):c.21346G>A (p.Asp7116Asn)
NM_001271208.2(NEB):c.21348T>A (p.Asp7116Glu)
NM_001271208.2(NEB):c.21397G>T (p.Ala7133Ser)
NM_001271208.2(NEB):c.214A>G (p.Ile72Val) rs1553698165
NM_001271208.2(NEB):c.2155C>T (p.Pro719Ser) rs376503299
NM_001271208.2(NEB):c.2166A>C (p.Ile722=) rs886042140
NM_001271208.2(NEB):c.217C>T (p.Arg73Trp) rs77994592
NM_001271208.2(NEB):c.218G>A (p.Arg73Gln) rs727504037
NM_001271208.2(NEB):c.2200C>G (p.Gln734Glu) rs780299519
NM_001271208.2(NEB):c.2211+5G>A rs797045736
NM_001271208.2(NEB):c.2211+5G>T rs797045736
NM_001271208.2(NEB):c.2215A>G (p.Thr739Ala)
NM_001271208.2(NEB):c.2249C>T (p.Thr750Met) rs757505325
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.2354A>G (p.His785Arg) rs370296542
NM_001271208.2(NEB):c.2366A>G (p.Asp789Gly) rs201498216
NM_001271208.2(NEB):c.23_25AGG[1] (p.Glu9del) rs1553711235
NM_001271208.2(NEB):c.2415+2dup rs1553567814
NM_001271208.2(NEB):c.2415+6T>C rs760614044
NM_001271208.2(NEB):c.2415T>C (p.Asp805=) rs566989836
NM_001271208.2(NEB):c.2416-6G>T rs185433570
NM_001271208.2(NEB):c.2437G>A (p.Glu813Lys)
NM_001271208.2(NEB):c.244A>G (p.Met82Val) rs587780398
NM_001271208.2(NEB):c.2459T>G (p.Phe820Cys) rs200664592
NM_001271208.2(NEB):c.2510A>G (p.Lys837Arg) rs189623595
NM_001271208.2(NEB):c.2533A>G (p.Lys845Glu)
NM_001271208.2(NEB):c.2540A>G (p.Asp847Gly) rs375894183
NM_001271208.2(NEB):c.2569G>A (p.Gly857Arg) rs1559253666
NM_001271208.2(NEB):c.2573C>T (p.Ala858Val) rs372217127
NM_001271208.2(NEB):c.2579G>A (p.Ser860Asn) rs1368018193
NM_001271208.2(NEB):c.2630A>G (p.Gln877Arg)
NM_001271208.2(NEB):c.2630A>T (p.Gln877Leu)
NM_001271208.2(NEB):c.2639G>A (p.Arg880His) rs202026890
NM_001271208.2(NEB):c.2739C>T (p.Ser913=) rs185674525
NM_001271208.2(NEB):c.2755C>G (p.His919Asp) rs373168257
NM_001271208.2(NEB):c.2771A>C (p.Tyr924Ser) rs199903114
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.2875_2877del (p.Cys959del) rs766232587
NM_001271208.2(NEB):c.2923G>A (p.Ala975Thr) rs917645712
NM_001271208.2(NEB):c.2943G>A (p.Glu981=) rs398124170
NM_001271208.2(NEB):c.2957A>G (p.Gln986Arg) rs781465553
NM_001271208.2(NEB):c.2987T>C (p.Ile996Thr)
NM_001271208.2(NEB):c.2998C>T (p.Pro1000Ser)
NM_001271208.2(NEB):c.3007G>C (p.Val1003Leu) rs149471462
NM_001271208.2(NEB):c.3022A>G (p.Asn1008Asp)
NM_001271208.2(NEB):c.3094C>T (p.Pro1032Ser) rs544334101
NM_001271208.2(NEB):c.3127_3129dup (p.Asn1043dup) rs1288870299
NM_001271208.2(NEB):c.3154T>C (p.Tyr1052His) rs1553539456
NM_001271208.2(NEB):c.3155A>G (p.Tyr1052Cys)
NM_001271208.2(NEB):c.3184A>G (p.Lys1062Glu) rs192117840
NM_001271208.2(NEB):c.3203C>T (p.Thr1068Ile) rs769233880
NM_001271208.2(NEB):c.3211A>C (p.Ile1071Leu) rs35194393
NM_001271208.2(NEB):c.3218_3226dup (p.Ala1076_Lys1077insValArgAla) rs1553539039
NM_001271208.2(NEB):c.3221_3229dup (p.Arg1074_Ala1076dup) rs1553539015
NM_001271208.2(NEB):c.3235G>T (p.Ala1079Ser)
NM_001271208.2(NEB):c.3245C>T (p.Ala1082Val)
NM_001271208.2(NEB):c.3255+2dup rs1276026682
NM_001271208.2(NEB):c.3255C>T (p.Asp1085=) rs368625295
NM_001271208.2(NEB):c.328G>A (p.Gly110Arg) rs886043647
NM_001271208.2(NEB):c.3348C>T (p.Asn1116=) rs149162847
NM_001271208.2(NEB):c.3352G>T (p.Ala1118Ser) rs1225381477
NM_001271208.2(NEB):c.3362A>G (p.Gln1121Arg) rs1559152642
NM_001271208.2(NEB):c.3397A>G (p.Thr1133Ala)
NM_001271208.2(NEB):c.3399A>G (p.Thr1133=) rs543961404
NM_001271208.2(NEB):c.340G>A (p.Ala114Thr) rs779928749
NM_001271208.2(NEB):c.3416C>T (p.Thr1139Met) rs181244403
NM_001271208.2(NEB):c.3425A>T (p.Asp1142Val) rs370976402
NM_001271208.2(NEB):c.3439G>A (p.Val1147Met) rs757659868
NM_001271208.2(NEB):c.3443C>A (p.Ala1148Glu) rs200637566
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.3461A>T (p.Asp1154Val) rs727504036
NM_001271208.2(NEB):c.3468C>T (p.Val1156=) rs373258662
NM_001271208.2(NEB):c.3491C>A (p.Ser1164Tyr)
NM_001271208.2(NEB):c.3520G>A (p.Ala1174Thr)
NM_001271208.2(NEB):c.3545_3547del (p.Asn1182del) rs1553534580
NM_001271208.2(NEB):c.355A>G (p.Thr119Ala)
NM_001271208.2(NEB):c.3567+3_3567+6del rs1553534336
NM_001271208.2(NEB):c.3589_3591AAC[1] (p.Asn1198del) rs886042521
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.3676_3678AAG[1] (p.Lys1227del) rs1553532187
NM_001271208.2(NEB):c.367C>T (p.Arg123Cys) rs200555425
NM_001271208.2(NEB):c.368G>A (p.Arg123His)
NM_001271208.2(NEB):c.3694C>G (p.Pro1232Ala) rs776796255
NM_001271208.2(NEB):c.3716G>T (p.Ser1239Ile) rs201541240
NM_001271208.2(NEB):c.3721G>T (p.Val1241Leu) rs537769519
NM_001271208.2(NEB):c.3758C>T (p.Thr1253Met) rs767433330
NM_001271208.2(NEB):c.3759_3773del (p.Lys1254_Asp1258del) rs1553531184
NM_001271208.2(NEB):c.3775-22T>C rs748941455
NM_001271208.2(NEB):c.3776T>C (p.Ile1259Thr) rs1553522143
NM_001271208.2(NEB):c.3778T>C (p.Leu1260=) rs886038452
NM_001271208.2(NEB):c.3788C>A (p.Ala1263Asp)
NM_001271208.2(NEB):c.3795_3797AGA[1] (p.Glu1266del) rs1553522046
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+8G>A rs376511134
NM_001271208.2(NEB):c.3964G>T (p.Ala1322Ser)
NM_001271208.2(NEB):c.3986A>C (p.Asp1329Ala) rs115986826
NM_001271208.2(NEB):c.3987+11A>T rs116903097
NM_001271208.2(NEB):c.3989A>G (p.Tyr1330Cys) rs189553632
NM_001271208.2(NEB):c.4018A>C (p.Lys1340Gln) rs398124171
NM_001271208.2(NEB):c.403G>A (p.Val135Ile) rs373729655
NM_001271208.2(NEB):c.4046T>C (p.Leu1349Pro)
NM_001271208.2(NEB):c.4072T>C (p.Tyr1358His) rs377054979
NM_001271208.2(NEB):c.4103G>A (p.Arg1368His)
NM_001271208.2(NEB):c.4105G>A (p.Glu1369Lys)
NM_001271208.2(NEB):c.4109A>G (p.Tyr1370Cys) rs1230970164
NM_001271208.2(NEB):c.4119C>G (p.Asn1373Lys) rs377653217
NM_001271208.2(NEB):c.4127A>G (p.Asn1376Ser) rs1309733626
NM_001271208.2(NEB):c.413G>A (p.Arg138Gln)
NM_001271208.2(NEB):c.4149C>T (p.Thr1383=) rs148794372
NM_001271208.2(NEB):c.4166G>A (p.Ser1389Asn)
NM_001271208.2(NEB):c.4198G>A (p.Ala1400Thr) rs113174390
NM_001271208.2(NEB):c.4204A>G (p.Asn1402Asp)
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.422G>A (p.Gly141Asp) rs973669056
NM_001271208.2(NEB):c.422G>T (p.Gly141Val)
NM_001271208.2(NEB):c.426T>A (p.Asp142Glu) rs200590080
NM_001271208.2(NEB):c.4271C>T (p.Thr1424Met)
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.4299+7A>G
NM_001271208.2(NEB):c.4337G>T (p.Gly1446Val) rs541803470
NM_001271208.2(NEB):c.4372G>A (p.Glu1458Lys) rs1559073472
NM_001271208.2(NEB):c.4466G>A (p.Gly1489Asp) rs74482326
NM_001271208.2(NEB):c.4466G>T (p.Gly1489Val)
NM_001271208.2(NEB):c.4469T>C (p.Met1490Thr) rs554984749
NM_001271208.2(NEB):c.4471G>T (p.Val1491Leu) rs7426114
NM_001271208.2(NEB):c.4481A>G (p.Gln1494Arg)
NM_001271208.2(NEB):c.448G>A (p.Val150Ile)
NM_001271208.2(NEB):c.4507-3T>C
NM_001271208.2(NEB):c.4528G>A (p.Glu1510Lys) rs370064863
NM_001271208.2(NEB):c.4555G>A (p.Asp1519Asn)
NM_001271208.2(NEB):c.4595C>A (p.Ala1532Asp) rs1456966310
NM_001271208.2(NEB):c.4612G>C (p.Ala1538Pro)
NM_001271208.2(NEB):c.4649A>G (p.Lys1550Arg) rs114089598
NM_001271208.2(NEB):c.4655A>G (p.Tyr1552Cys)
NM_001271208.2(NEB):c.4664G>A (p.Arg1555Lys) rs183333679
NM_001271208.2(NEB):c.4666C>T (p.Pro1556Ser) rs756692621
NM_001271208.2(NEB):c.475C>T (p.His159Tyr) rs776746330
NM_001271208.2(NEB):c.47A>T (p.Glu16Val) rs748679499
NM_001271208.2(NEB):c.47_49AAG[1] (p.Glu17del) rs760256873
NM_001271208.2(NEB):c.4834C>T (p.Arg1612Cys) rs200545007
NM_001271208.2(NEB):c.4835G>A (p.Arg1612His) rs534531948
NM_001271208.2(NEB):c.4835G>T (p.Arg1612Leu) rs534531948
NM_001271208.2(NEB):c.4894G>A (p.Val1632Ile)
NM_001271208.2(NEB):c.4904C>T (p.Thr1635Ile) rs199662534
NM_001271208.2(NEB):c.491C>T (p.Ser164Leu)
NM_001271208.2(NEB):c.492G>T (p.Ser164=) rs371015050
NM_001271208.2(NEB):c.4945_4947del (p.Tyr1649del) rs770192528
NM_001271208.2(NEB):c.4978C>A (p.Pro1660Thr) rs776231831
NM_001271208.2(NEB):c.4978C>T (p.Pro1660Ser) rs776231831
NM_001271208.2(NEB):c.4980C>T (p.Pro1660=) rs142074817
NM_001271208.2(NEB):c.5031+1G>A rs1553495140
NM_001271208.2(NEB):c.5031+4T>C rs370999716
NM_001271208.2(NEB):c.5049C>G (p.Asp1683Glu) rs777670525
NM_001271208.2(NEB):c.5087T>C (p.Ile1696Thr) rs937014596
NM_001271208.2(NEB):c.5091G>C (p.Glu1697Asp) rs1349969572
NM_001271208.2(NEB):c.5120C>A (p.Ala1707Glu)
NM_001271208.2(NEB):c.5140_5142AAG[1] (p.Lys1715del) rs1553492424
NM_001271208.2(NEB):c.5153A>T (p.Gln1718Leu) rs1064796520
NM_001271208.2(NEB):c.5170_5172del (p.Lys1724del) rs1553492107
NM_001271208.2(NEB):c.5174T>C (p.Phe1725Ser)
NM_001271208.2(NEB):c.5181C>T (p.Tyr1727=) rs35016946
NM_001271208.2(NEB):c.5211_5213del (p.Asn1737del) rs1553491789
NM_001271208.2(NEB):c.5224C>T (p.Leu1742=) rs886054947
NM_001271208.2(NEB):c.5300C>T (p.Pro1767Leu)
NM_001271208.2(NEB):c.5374A>G (p.Lys1792Glu) rs541641039
NM_001271208.2(NEB):c.539A>G (p.Lys180Arg) rs200719359
NM_001271208.2(NEB):c.5410G>A (p.Ala1804Thr) rs369275207
NM_001271208.2(NEB):c.5411C>A (p.Ala1804Glu) rs78420579
NM_001271208.2(NEB):c.5434A>G (p.Arg1812Gly)
NM_001271208.2(NEB):c.5444C>G (p.Ala1815Gly)
NM_001271208.2(NEB):c.5495T>C (p.Ile1832Thr)
NM_001271208.2(NEB):c.54_56dup (p.Val19dup) rs1553702754
NM_001271208.2(NEB):c.5503C>T (p.Arg1835Trp) rs199694315
NM_001271208.2(NEB):c.5555T>G (p.Met1852Arg) rs144180493
NM_001271208.2(NEB):c.5561C>T (p.Ser1854Leu) rs1553485582
NM_001271208.2(NEB):c.5566C>T (p.Arg1856Trp)
NM_001271208.2(NEB):c.5581G>A (p.Gly1861Arg)
NM_001271208.2(NEB):c.5623A>G (p.Met1875Val) rs201940342
NM_001271208.2(NEB):c.5656G>A (p.Glu1886Lys) rs746761562
NM_001271208.2(NEB):c.5671G>A (p.Ala1891Thr) rs1553484895
NM_001271208.2(NEB):c.5680A>G (p.Arg1894Gly) rs150961139
NM_001271208.2(NEB):c.5696C>T (p.Thr1899Ile) rs202234374
NM_001271208.2(NEB):c.5698_5703del (p.Tyr1900_Asn1901del) rs775531807
NM_001271208.2(NEB):c.571G>C (p.Glu191Gln) rs35686968
NM_001271208.2(NEB):c.5747T>C (p.Met1916Thr) rs142540692
NM_001271208.2(NEB):c.5763+15C>T rs148455519
NM_001271208.2(NEB):c.5763+5G>A rs776167256
NM_001271208.2(NEB):c.5768A>G (p.Gln1923Arg)
NM_001271208.2(NEB):c.5801G>A (p.Gly1934Asp) rs763717355
NM_001271208.2(NEB):c.5828T>C (p.Leu1943Pro) rs531692437
NM_001271208.2(NEB):c.5849A>G (p.Lys1950Arg) rs758655350
NM_001271208.2(NEB):c.5854A>G (p.Met1952Val) rs200649387
NM_001271208.2(NEB):c.585C>G (p.Ala195=) rs374538366
NM_001271208.2(NEB):c.5905T>C (p.Tyr1969His) rs34532796
NM_001271208.2(NEB):c.5912C>T (p.Thr1971Ile) rs762592136
NM_001271208.2(NEB):c.5939T>C (p.Leu1980Ser) rs375412223
NM_001271208.2(NEB):c.5945A>C (p.Gln1982Pro) rs1212716508
NM_001271208.2(NEB):c.5968G>A (p.Glu1990Lys) rs146310692
NM_001271208.2(NEB):c.5971-12dup rs551520922
NM_001271208.2(NEB):c.6020T>C (p.Met2007Thr) rs199862790
NM_001271208.2(NEB):c.6033C>T (p.Pro2011=) rs773482640
NM_001271208.2(NEB):c.6046G>C (p.Ala2016Pro) rs1558927613
NM_001271208.2(NEB):c.605_607del (p.Phe202_Ser203delinsCys) rs1553687045
NM_001271208.2(NEB):c.6067A>G (p.Met2023Val) rs779481792
NM_001271208.2(NEB):c.6075+3A>T rs986325764
NM_001271208.2(NEB):c.6085A>C (p.Lys2029Gln)
NM_001271208.2(NEB):c.6088C>T (p.Leu2030Phe) rs200251444
NM_001271208.2(NEB):c.6097G>A (p.Glu2033Lys) rs956309067
NM_001271208.2(NEB):c.6119A>G (p.Tyr2040Cys)
NM_001271208.2(NEB):c.6127A>G (p.Arg2043Gly) rs1321911647
NM_001271208.2(NEB):c.6135T>C (p.Asp2045=) rs886042654
NM_001271208.2(NEB):c.6145A>G (p.Ile2049Val)
NM_001271208.2(NEB):c.6175G>A (p.Ala2059Thr) rs369215974
NM_001271208.2(NEB):c.6195_6200del (p.2063_2064KY[1]) rs767681176
NM_001271208.2(NEB):c.61G>A (p.Glu21Lys) rs199907781
NM_001271208.2(NEB):c.6244G>A (p.Glu2082Lys)
NM_001271208.2(NEB):c.6299G>A (p.Arg2100Gln) rs752836728
NM_001271208.2(NEB):c.6323A>G (p.Asn2108Ser) rs1558891493
NM_001271208.2(NEB):c.6325A>G (p.Thr2109Ala)
NM_001271208.2(NEB):c.6369G>A (p.Thr2123=) rs540542570
NM_001271208.2(NEB):c.6381T>A (p.Asp2127Glu) rs368302286
NM_001271208.2(NEB):c.6392A>T (p.Asn2131Ile)
NM_001271208.2(NEB):c.6400A>G (p.Asn2134Asp) rs751935179
NM_001271208.2(NEB):c.6415C>G (p.His2139Asp) rs886044641
NM_001271208.2(NEB):c.642C>A (p.Asp214Glu) rs373133009
NM_001271208.2(NEB):c.6449C>T (p.Ala2150Val) rs375256600
NM_001271208.2(NEB):c.6481C>T (p.Arg2161Cys)
NM_001271208.2(NEB):c.6482G>A (p.Arg2161His)
NM_001271208.2(NEB):c.6486A>G (p.Ile2162Met) rs370994522
NM_001271208.2(NEB):c.6493G>C (p.Asp2165His)
NM_001271208.2(NEB):c.6505A>G (p.Lys2169Glu) rs752328965
NM_001271208.2(NEB):c.6513T>C (p.Asp2171=) rs376535906
NM_001271208.2(NEB):c.6591A>G (p.Glu2197=) rs1553462437
NM_001271208.2(NEB):c.6598A>G (p.Ser2200Gly) rs1553462412
NM_001271208.2(NEB):c.662A>G (p.Tyr221Cys) rs571230045
NM_001271208.2(NEB):c.6631T>C (p.Phe2211Leu) rs369374856
NM_001271208.2(NEB):c.6660G>A (p.Met2220Ile)
NM_001271208.2(NEB):c.6704A>C (p.His2235Pro) rs372800812
NM_001271208.2(NEB):c.6719A>G (p.Asp2240Gly) rs1362776689
NM_001271208.2(NEB):c.6799_6804del (p.Tyr2267_Ser2268del) rs1209177139
NM_001271208.2(NEB):c.6817A>G (p.Lys2273Glu) rs199700878
NM_001271208.2(NEB):c.6873T>G (p.Ile2291Met)
NM_001271208.2(NEB):c.6893C>T (p.Ala2298Val) rs1280388530
NM_001271208.2(NEB):c.6956_6967del (p.His2319_Phe2322del) rs1553449735
NM_001271208.2(NEB):c.6961G>A (p.Gly2321Arg)
NM_001271208.2(NEB):c.6968G>A (p.Arg2323Gln)
NM_001271208.2(NEB):c.7010T>C (p.Val2337Ala) rs1558825869
NM_001271208.2(NEB):c.7025G>T (p.Ser2342Ile) rs372132667
NM_001271208.2(NEB):c.7102C>G (p.Leu2368Val) rs1553449170
NM_001271208.2(NEB):c.7120_7122dup (p.Glu2374dup) rs1553449134
NM_001271208.2(NEB):c.7126G>C (p.Val2376Leu) rs141155976
NM_001271208.2(NEB):c.7135_7140del (p.Val2379_Asp2380del) rs1326831435
NM_001271208.2(NEB):c.71C>T (p.Pro24Leu) rs185496567
NM_001271208.2(NEB):c.7227+13T>G rs373818296
NM_001271208.2(NEB):c.7228-5C>T rs773213959
NM_001271208.2(NEB):c.7252T>A (p.Trp2418Arg) rs780437384
NM_001271208.2(NEB):c.7309C>T (p.Arg2437Trp) rs375164626
NM_001271208.2(NEB):c.7312G>A (p.Ala2438Thr) rs202233025
NM_001271208.2(NEB):c.7324A>G (p.Ile2442Val) rs1553447698
NM_001271208.2(NEB):c.7335G>C (p.Lys2445Asn) rs886043134
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.7362C>G (p.Asn2454Lys) rs1057518861
NM_001271208.2(NEB):c.7421A>G (p.Asn2474Ser) rs776901478
NM_001271208.2(NEB):c.7441A>G (p.Arg2481Gly) rs149430473
NM_001271208.2(NEB):c.7469A>C (p.Gln2490Pro) rs1446110323
NM_001271208.2(NEB):c.7514C>A (p.Ala2505Glu) rs35292878
NM_001271208.2(NEB):c.7537-3C>A rs886054946
NM_001271208.2(NEB):c.7549A>G (p.Met2517Val) rs577856870
NM_001271208.2(NEB):c.7549_7551del (p.Met2517del) rs1553985641
NM_001271208.2(NEB):c.7582G>A (p.Asp2528Asn) rs369496057
NM_001271208.2(NEB):c.761C>T (p.Thr254Met) rs376835458
NM_001271208.2(NEB):c.7628G>A (p.Arg2543Gln)
NM_001271208.2(NEB):c.7644A>G (p.Glu2548=)
NM_001271208.2(NEB):c.7645-14T>C rs886054945
NM_001271208.2(NEB):c.7646A>G (p.Tyr2549Cys) rs1553984101
NM_001271208.2(NEB):c.764C>G (p.Pro255Arg) rs1553663195
NM_001271208.2(NEB):c.7691G>T (p.Gly2564Val)
NM_001271208.2(NEB):c.7696C>T (p.Arg2566Trp) rs368232288
NM_001271208.2(NEB):c.771_772inv (p.Asp258Asn)
NM_001271208.2(NEB):c.7722G>T (p.Met2574Ile) rs748066063
NM_001271208.2(NEB):c.772G>A (p.Asp258Asn) rs267598926
NM_001271208.2(NEB):c.7748T>C (p.Ile2583Thr) rs886042764
NM_001271208.2(NEB):c.7761G>C (p.Arg2587Ser) rs869312958
NM_001271208.2(NEB):c.780A>G (p.Pro260=) rs80255720
NM_001271208.2(NEB):c.7861G>A (p.Asp2621Asn) rs781745506
NM_001271208.2(NEB):c.7864G>A (p.Val2622Met) rs905660353
NM_001271208.2(NEB):c.7865T>G (p.Val2622Gly)
NM_001271208.2(NEB):c.7896A>G (p.Thr2632=) rs377015178
NM_001271208.2(NEB):c.78G>A (p.Glu26=) rs1553702617
NM_001271208.2(NEB):c.7906G>A (p.Asp2636Asn) rs760643814
NM_001271208.2(NEB):c.7913_7914delinsAT (p.Ser2638Asn)
NM_001271208.2(NEB):c.7917T>C (p.Asp2639=) rs745410848
NM_001271208.2(NEB):c.7956+4A>G rs886054944
NM_001271208.2(NEB):c.8020G>A (p.Glu2674Lys)
NM_001271208.2(NEB):c.8024A>G (p.Asp2675Gly)
NM_001271208.2(NEB):c.8039G>A (p.Arg2680Gln) rs201746137
NM_001271208.2(NEB):c.8071C>T (p.Arg2691Cys) rs202044707
NM_001271208.2(NEB):c.8125G>A (p.Val2709Ile)
NM_001271208.2(NEB):c.8146A>G (p.Ile2716Val)
NM_001271208.2(NEB):c.8152A>T (p.Met2718Leu) rs767511888
NM_001271208.2(NEB):c.8161C>T (p.Arg2721Cys)
NM_001271208.2(NEB):c.8162G>A (p.Arg2721His) rs753996512
NM_001271208.2(NEB):c.8202C>T (p.Val2734=) rs144595998
NM_001271208.2(NEB):c.8203C>G (p.His2735Asp)
NM_001271208.2(NEB):c.8315T>G (p.Met2772Arg)
NM_001271208.2(NEB):c.8328C>T (p.Ala2776=) rs373449008
NM_001271208.2(NEB):c.8335A>G (p.Ile2779Val) rs114853127
NM_001271208.2(NEB):c.8335A>T (p.Ile2779Phe) rs114853127
NM_001271208.2(NEB):c.8341G>T (p.Ala2781Ser) rs1160244999
NM_001271208.2(NEB):c.834_836AGA[1] (p.Glu279del) rs1553642771
NM_001271208.2(NEB):c.8353T>C (p.Ser2785Pro) rs398124173
NM_001271208.2(NEB):c.8356A>G (p.Arg2786Gly)
NM_001271208.2(NEB):c.8381A>T (p.Tyr2794Phe)
NM_001271208.2(NEB):c.8393A>G (p.Tyr2798Cys)
NM_001271208.2(NEB):c.8467G>A (p.Val2823Met)
NM_001271208.2(NEB):c.8469G>A (p.Val2823=)
NM_001271208.2(NEB):c.8490G>A (p.Arg2830=) rs368217121
NM_001271208.2(NEB):c.8497_8499AAG[1] (p.Lys2834del) rs764523437
NM_001271208.2(NEB):c.8553G>A (p.Gly2851=) rs200624735
NM_001271208.2(NEB):c.8598C>G (p.Asp2866Glu) rs1553966356
NM_001271208.2(NEB):c.8644G>A (p.Asp2882Asn) rs200729207
NM_001271208.2(NEB):c.8647G>A (p.Val2883Ile) rs369283016
NM_001271208.2(NEB):c.8682C>A (p.Ser2894Arg) rs373799650
NM_001271208.2(NEB):c.8690T>C (p.Met2897Thr)
NM_001271208.2(NEB):c.8719G>A (p.Gly2907Ser) rs201707021
NM_001271208.2(NEB):c.8738T>C (p.Ile2913Thr) rs368373064
NM_001271208.2(NEB):c.877C>T (p.Pro293Ser) rs200672688
NM_001271208.2(NEB):c.8796C>A (p.Ile2932=) rs886054943
NM_001271208.2(NEB):c.8799T>C (p.Tyr2933=) rs375997049
NM_001271208.2(NEB):c.8800C>T (p.Arg2934Cys) rs771598053
NM_001271208.2(NEB):c.8801G>A (p.Arg2934His) rs200307392
NM_001271208.2(NEB):c.8864A>G (p.Lys2955Arg)
NM_001271208.2(NEB):c.8873C>T (p.Ala2958Val) rs768058972
NM_001271208.2(NEB):c.8880_8882del (p.Met2961del) rs1553964000
NM_001271208.2(NEB):c.8890C>T (p.Arg2964Cys)
NM_001271208.2(NEB):c.8897A>G (p.Tyr2966Cys) rs1560822452
NM_001271208.2(NEB):c.8935A>G (p.Ile2979Val) rs1250321534
NM_001271208.2(NEB):c.8968A>G (p.Arg2990Gly)
NM_001271208.2(NEB):c.8978A>G (p.Lys2993Arg) rs138217855
NM_001271208.2(NEB):c.9001T>G (p.Tyr3001Asp) rs1553955663
NM_001271208.2(NEB):c.9002A>G (p.Tyr3001Cys)
NM_001271208.2(NEB):c.9007C>G (p.Leu3003Val) rs1415513452
NM_001271208.2(NEB):c.9047G>A (p.Arg3016Gln) rs373587647
NM_001271208.2(NEB):c.9053_9067del (p.Asp3018_Ile3022del) rs1165631470
NM_001271208.2(NEB):c.9055G>A (p.Ala3019Thr)
NM_001271208.2(NEB):c.9067G>A (p.Val3023Met)
NM_001271208.2(NEB):c.9071C>T (p.Ala3024Val) rs143933602
NM_001271208.2(NEB):c.9112A>G (p.Lys3038Glu)
NM_001271208.2(NEB):c.9126C>T (p.Cys3042=) rs373453206
NM_001271208.2(NEB):c.9133C>T (p.Leu3045Phe) rs533898172
NM_001271208.2(NEB):c.9139C>A (p.His3047Asn) rs147168910
NM_001271208.2(NEB):c.9146T>C (p.Ile3049Thr) rs776759120
NM_001271208.2(NEB):c.914A>G (p.Asp305Gly) rs36105240
NM_001271208.2(NEB):c.9178A>G (p.Met3060Val) rs538524863
NM_001271208.2(NEB):c.9181A>T (p.Met3061Leu) rs143473183
NM_001271208.2(NEB):c.9329A>G (p.Tyr3110Cys) rs778306283
NM_001271208.2(NEB):c.9352A>T (p.Thr3118Ser) rs543100735
NM_001271208.2(NEB):c.938A>G (p.Gln313Arg) rs1559506055
NM_001271208.2(NEB):c.9425A>G (p.Lys3142Arg)
NM_001271208.2(NEB):c.9473C>G (p.Ser3158Cys)
NM_001271208.2(NEB):c.9481G>A (p.Val3161Met) rs1560693635
NM_001271208.2(NEB):c.9542A>C (p.Asp3181Ala)
NM_001271208.2(NEB):c.9576A>G (p.Leu3192=)
NM_001271208.2(NEB):c.9578A>G (p.Glu3193Gly) rs369985728
NM_001271208.2(NEB):c.9587T>G (p.Leu3196Arg) rs754001835
NM_001271208.2(NEB):c.9590C>T (p.Ala3197Val) rs778131603
NM_001271208.2(NEB):c.9619C>T (p.Arg3207Cys) rs200351671
NM_001271208.2(NEB):c.9620G>A (p.Arg3207His) rs111841612
NM_001271208.2(NEB):c.9620G>T (p.Arg3207Leu)
NM_001271208.2(NEB):c.966G>T (p.Gln322His) rs757803976
NM_001271208.2(NEB):c.9689T>C (p.Met3230Thr) rs760551196
NM_001271208.2(NEB):c.9694G>T (p.Ala3232Ser) rs1329330602
NM_001271208.2(NEB):c.9743A>G (p.Asn3248Ser) rs139548702
NM_001271208.2(NEB):c.9767A>G (p.Tyr3256Cys) rs1365723573
NM_001271208.2(NEB):c.9796G>A (p.Val3266Met)
NM_001271208.2(NEB):c.9819_9820insAGG (p.Val3274_Ile3275insArg) rs1553934027
NM_001271208.2(NEB):c.9820G>A (p.Val3274Ile) rs201288341
NM_001271208.2(NEB):c.9827G>A (p.Ser3276Asn) rs1168444365
NM_001271208.2(NEB):c.9831+4A>G rs727504035
NM_001271208.2(NEB):c.984C>T (p.Thr328=) rs199969138
NM_001271208.2(NEB):c.9853C>T (p.Arg3285Cys) rs370572955
NM_001271208.2(NEB):c.9865G>A (p.Gly3289Ser) rs75639119
NM_001271208.2(NEB):c.9878G>C (p.Gly3293Ala)
NM_001271208.2(NEB):c.9921G>A (p.Met3307Ile) rs756185799
NM_001271208.2(NEB):c.992C>G (p.Pro331Arg)
NM_001271208.2(NEB):c.994G>A (p.Glu332Lys) rs748518353
NM_001271208.2(NEB):c.998A>G (p.Tyr333Cys) rs775367325

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