ClinVar Miner

List of variants in gene NEB reported as uncertain significance for Nemaline myopathy 2

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 1061
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HGVS dbSNP
NC_000002.12:g.(?_151496931)_(151497043_?)del
NM_001164507.1(NEB):c.-195C>T
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.10005G>A (p.Met3335Ile)
NM_001271208.2(NEB):c.10021G>T (p.Ala3341Ser) rs1574279999
NM_001271208.2(NEB):c.10026G>C (p.Lys3342Asn) rs117636679
NM_001271208.2(NEB):c.10029G>C (p.Lys3343Asn) rs183321773
NM_001271208.2(NEB):c.10037C>T (p.Thr3346Ile) rs1560628791
NM_001271208.2(NEB):c.10075G>A (p.Glu3359Lys) rs374359052
NM_001271208.2(NEB):c.10080G>T (p.Trp3360Cys) rs1574278301
NM_001271208.2(NEB):c.10082C>T (p.Thr3361Met)
NM_001271208.2(NEB):c.10087C>A (p.Leu3363Met)
NM_001271208.2(NEB):c.10112A>G (p.His3371Arg)
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) rs762993577
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) rs1574259964
NM_001271208.2(NEB):c.10223A>G (p.Lys3408Arg) rs762891609
NM_001271208.2(NEB):c.10228G>A (p.Ala3410Thr) rs1298375132
NM_001271208.2(NEB):c.10231G>A (p.Ala3411Thr) rs727504034
NM_001271208.2(NEB):c.10231G>T (p.Ala3411Ser) rs727504034
NM_001271208.2(NEB):c.10258C>T (p.Arg3420Cys) rs201596787
NM_001271208.2(NEB):c.10299C>G (p.Asp3433Glu) rs180847025
NM_001271208.2(NEB):c.10341G>A (p.Met3447Ile) rs370053963
NM_001271208.2(NEB):c.10347G>A (p.Lys3449=)
NM_001271208.2(NEB):c.10348C>T (p.Arg3450Cys) rs200462308
NM_001271208.2(NEB):c.1035+6A>G rs1577251081
NM_001271208.2(NEB):c.10358C>A (p.Thr3453Lys)
NM_001271208.2(NEB):c.10382C>A (p.Thr3461Asn)
NM_001271208.2(NEB):c.10393A>G (p.Ile3465Val)
NM_001271208.2(NEB):c.10419G>A (p.Met3473Ile)
NM_001271208.2(NEB):c.10419G>T (p.Met3473Ile)
NM_001271208.2(NEB):c.10423G>T (p.Ala3475Ser)
NM_001271208.2(NEB):c.10433A>G (p.Asn3478Ser) rs1246003078
NM_001271208.2(NEB):c.10452+5G>A rs370685957
NM_001271208.2(NEB):c.1045A>C (p.Lys349Gln) rs369153778
NM_001271208.2(NEB):c.10462C>T (p.Arg3488Cys)
NM_001271208.2(NEB):c.10471A>G (p.Met3491Val)
NM_001271208.2(NEB):c.104C>T (p.Thr35Met)
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.10589A>T (p.Gln3530Leu)
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.10657G>T (p.Ala3553Ser)
NM_001271208.2(NEB):c.10660A>G (p.Lys3554Glu) rs1553912139
NM_001271208.2(NEB):c.10676G>A (p.Arg3559His) rs376558062
NM_001271208.2(NEB):c.10706A>G (p.Lys3569Arg) rs371572709
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) rs1573936944
NM_001271208.2(NEB):c.10817_10819del (p.Leu3606del) rs1553911586
NM_001271208.2(NEB):c.10819C>A (p.Pro3607Thr)
NM_001271208.2(NEB):c.10833_10835CAT[1] (p.Ile3613del) rs773748212
NM_001271208.2(NEB):c.10846C>T (p.Arg3616Trp)
NM_001271208.2(NEB):c.10856A>G (p.Tyr3619Cys) rs1049205301
NM_001271208.2(NEB):c.10860C>A (p.Asp3620Glu) rs748243107
NM_001271208.2(NEB):c.10861C>G (p.Leu3621Val) rs1573934764
NM_001271208.2(NEB):c.10872C>T (p.Asp3624=)
NM_001271208.2(NEB):c.10880A>G (p.Tyr3627Cys)
NM_001271208.2(NEB):c.10910T>C (p.Ile3637Thr)
NM_001271208.2(NEB):c.10913G>T (p.Gly3638Val) rs370161504
NM_001271208.2(NEB):c.10925T>C (p.Ile3642Thr)
NM_001271208.2(NEB):c.10955G>A (p.Arg3652Lys) rs1553908653
NM_001271208.2(NEB):c.10992G>C (p.Gln3664His)
NM_001271208.2(NEB):c.11005C>A (p.Leu3669Met)
NM_001271208.2(NEB):c.11023A>G (p.Thr3675Ala)
NM_001271208.2(NEB):c.11025G>A (p.Thr3675=) rs199789085
NM_001271208.2(NEB):c.11033C>T (p.Pro3678Leu)
NM_001271208.2(NEB):c.11037G>A (p.Glu3679=) rs886054942
NM_001271208.2(NEB):c.11072A>G (p.Asn3691Ser) rs1184035076
NM_001271208.2(NEB):c.11076+12A>G rs201250579
NM_001271208.2(NEB):c.11077C>T (p.Arg3693Cys) rs539139958
NM_001271208.2(NEB):c.11078G>A (p.Arg3693His) rs368915047
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.11164C>A (p.Arg3722=)
NM_001271208.2(NEB):c.11165G>A (p.Arg3722Gln) rs757027644
NM_001271208.2(NEB):c.11181+3A>G rs1448725511
NM_001271208.2(NEB):c.11182-8T>A rs183088493
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) rs761139484
NM_001271208.2(NEB):c.11312G>T (p.Arg3771Leu) rs374486286
NM_001271208.2(NEB):c.11333T>C (p.Ile3778Thr) rs200270156
NM_001271208.2(NEB):c.11361G>A (p.Pro3787=) rs200043736
NM_001271208.2(NEB):c.11367G>T (p.Met3789Ile)
NM_001271208.2(NEB):c.11371T>C (p.Trp3791Arg)
NM_001271208.2(NEB):c.11417A>G (p.Lys3806Arg)
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.11467G>C (p.Gly3823Arg) rs1489953672
NM_001271208.2(NEB):c.11479G>A (p.Ala3827Thr)
NM_001271208.2(NEB):c.11498T>C (p.Leu3833Pro)
NM_001271208.2(NEB):c.11506G>T (p.Asp3836Tyr)
NM_001271208.2(NEB):c.1152+5G>A rs111404077
NM_001271208.2(NEB):c.1152C>T (p.Asp384=) rs767328072
NM_001271208.2(NEB):c.11533G>C (p.Glu3845Gln)
NM_001271208.2(NEB):c.11540C>A (p.Thr3847Asn)
NM_001271208.2(NEB):c.11563G>A (p.Val3855Ile)
NM_001271208.2(NEB):c.11570A>G (p.Gln3857Arg)
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.1162A>G (p.Lys388Glu) rs1159204491
NM_001271208.2(NEB):c.11636G>A (p.Gly3879Asp)
NM_001271208.2(NEB):c.11654T>A (p.Ile3885Asn) rs1367960856
NM_001271208.2(NEB):c.11671G>A (p.Glu3891Lys)
NM_001271208.2(NEB):c.11683A>G (p.Arg3895Gly) rs1015014078
NM_001271208.2(NEB):c.11716C>T (p.Arg3906Cys)
NM_001271208.2(NEB):c.11717G>A (p.Arg3906His)
NM_001271208.2(NEB):c.11755G>A (p.Asp3919Asn) rs201483656
NM_001271208.2(NEB):c.11763G>A (p.Pro3921=)
NM_001271208.2(NEB):c.11777C>G (p.Ala3926Gly) rs754671742
NM_001271208.2(NEB):c.11798T>C (p.Met3933Thr) rs772235127
NM_001271208.2(NEB):c.11806-7C>A rs779713133
NM_001271208.2(NEB):c.1182A>C (p.Thr394=) rs186233985
NM_001271208.2(NEB):c.11843C>T (p.Ser3948Phe)
NM_001271208.2(NEB):c.11851G>A (p.Val3951Met) rs759624618
NM_001271208.2(NEB):c.1187C>T (p.Ala396Val) rs369957704
NM_001271208.2(NEB):c.11884A>C (p.Lys3962Gln)
NM_001271208.2(NEB):c.11889T>A (p.Ser3963Arg)
NM_001271208.2(NEB):c.11891A>T (p.Asn3964Ile) rs1560398552
NM_001271208.2(NEB):c.11893T>G (p.Ser3965Ala)
NM_001271208.2(NEB):c.11900A>G (p.Asn3967Ser)
NM_001271208.2(NEB):c.11910+3A>G
NM_001271208.2(NEB):c.11915T>G (p.Leu3972Arg) rs769145449
NM_001271208.2(NEB):c.11949_11957dup (p.Asp3986_Leu3987insGluAspTyr)
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) rs751650751
NM_001271208.2(NEB):c.11988T>A (p.Ser3996Arg)
NM_001271208.2(NEB):c.12010G>A (p.Ala4004Thr)
NM_001271208.2(NEB):c.12018+8C>G
NM_001271208.2(NEB):c.1209G>T (p.Glu403Asp) rs1576715880
NM_001271208.2(NEB):c.12103G>A (p.Ala4035Thr)
NM_001271208.2(NEB):c.1211C>T (p.Thr404Ile) rs200585609
NM_001271208.2(NEB):c.12176C>G (p.Ser4059Cys) rs1475951452
NM_001271208.2(NEB):c.12200T>C (p.Ile4067Thr) rs746008098
NM_001271208.2(NEB):c.12210C>G (p.Ala4070=) rs749556191
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) rs557283717
NM_001271208.2(NEB):c.12247C>T (p.Arg4083Cys) rs368383341
NM_001271208.2(NEB):c.12248G>A (p.Arg4083His) rs376019368
NM_001271208.2(NEB):c.12251A>G (p.Asn4084Ser) rs761668198
NM_001271208.2(NEB):c.12258G>C (p.Leu4086=)
NM_001271208.2(NEB):c.1225C>T (p.Leu409Phe) rs373883986
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.1227C>T (p.Leu409=)
NM_001271208.2(NEB):c.12288C>A (p.Asn4096Lys)
NM_001271208.2(NEB):c.12298C>G (p.Gln4100Glu) rs373829936
NM_001271208.2(NEB):c.1229A>C (p.Asp410Ala) rs1576715183
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.12534+3A>G
NM_001271208.2(NEB):c.12550G>A (p.Ala4184Thr) rs1553877049
NM_001271208.2(NEB):c.12596C>T (p.Pro4199Leu) rs1365594299
NM_001271208.2(NEB):c.125A>G (p.Tyr42Cys)
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.1267A>G (p.Lys423Glu)
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+4C>T
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) rs1578040162
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) rs577939684
NM_001271208.2(NEB):c.128A>C (p.Glu43Ala)
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.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) rs1466400136
NM_001271208.2(NEB):c.1312T>G (p.Phe438Val)
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.1333C>T (p.His445Tyr)
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.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.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.1404A>G (p.Lys468=)
NM_001271208.2(NEB):c.1423A>G (p.Ile475Val)
NM_001271208.2(NEB):c.1462T>A (p.Cys488Ser) rs749228422
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) rs1576674181
NM_001271208.2(NEB):c.1493A>G (p.Asp498Gly) rs1255744452
NM_001271208.2(NEB):c.1504T>C (p.Phe502Leu) rs759653954
NM_001271208.2(NEB):c.1528G>T (p.Val510Phe) rs749473348
NM_001271208.2(NEB):c.1535T>A (p.Leu512Gln)
NM_001271208.2(NEB):c.153_167del (p.52_56LAQPA[1]) rs757726895
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.1569+3A>T rs1576671314
NM_001271208.2(NEB):c.1569C>T (p.Asp523=) rs200758495
NM_001271208.2(NEB):c.1610G>A (p.Cys537Tyr) rs935982815
NM_001271208.2(NEB):c.1618C>G (p.Pro540Ala) rs1271816542
NM_001271208.2(NEB):c.1621C>G (p.Pro541Ala) rs1324280943
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.1654A>G (p.Asn552Asp)
NM_001271208.2(NEB):c.16735C>T (p.Arg5579Cys)
NM_001271208.2(NEB):c.1674+3A>C
NM_001271208.2(NEB):c.16750A>G (p.Met5584Val)
NM_001271208.2(NEB):c.16789G>A (p.Ala5597Thr)
NM_001271208.2(NEB):c.16790C>G (p.Ala5597Gly) rs777969701
NM_001271208.2(NEB):c.16814T>C (p.Val5605Ala)
NM_001271208.2(NEB):c.16817A>G (p.Tyr5606Cys) rs372049328
NM_001271208.2(NEB):c.16823C>T (p.Thr5608Met) rs200952733
NM_001271208.2(NEB):c.16828G>T (p.Val5610Leu)
NM_001271208.2(NEB):c.16954A>G (p.Ile5652Val) rs767425744
NM_001271208.2(NEB):c.16954A>T (p.Ile5652Leu) rs767425744
NM_001271208.2(NEB):c.16958T>C (p.Met5653Thr) rs763012000
NM_001271208.2(NEB):c.16967C>T (p.Thr5656Ile) rs1353681047
NM_001271208.2(NEB):c.16984G>A (p.Ala5662Thr)
NM_001271208.2(NEB):c.1698G>A (p.Glu566=)
NM_001271208.2(NEB):c.17013+3A>G
NM_001271208.2(NEB):c.17023C>G (p.Arg5675Gly) rs547231033
NM_001271208.2(NEB):c.17023C>T (p.Arg5675Cys)
NM_001271208.2(NEB):c.17048C>T (p.Ala5683Val) rs761829162
NM_001271208.2(NEB):c.17078C>T (p.Pro5693Leu)
NM_001271208.2(NEB):c.17114G>A (p.Ser5705Asn) rs1179251845
NM_001271208.2(NEB):c.17118C>A (p.Asp5706Glu)
NM_001271208.2(NEB):c.17118C>T (p.Asp5706=) rs769476760
NM_001271208.2(NEB):c.17129A>G (p.Lys5710Arg) rs200501968
NM_001271208.2(NEB):c.17156A>T (p.His5719Leu) rs776095941
NM_001271208.2(NEB):c.17161G>A (p.Val5721Met)
NM_001271208.2(NEB):c.17180G>C (p.Arg5727Thr)
NM_001271208.2(NEB):c.17183A>G (p.Asp5728Gly)
NM_001271208.2(NEB):c.17183A>T (p.Asp5728Val) rs756098317
NM_001271208.2(NEB):c.17185G>A (p.Asp5729Asn)
NM_001271208.2(NEB):c.1718T>C (p.Phe573Ser)
NM_001271208.2(NEB):c.17198G>A (p.Arg5733His) rs371681892
NM_001271208.2(NEB):c.17198G>T (p.Arg5733Leu) rs371681892
NM_001271208.2(NEB):c.17200T>C (p.Trp5734Arg) rs369065324
NM_001271208.2(NEB):c.17203G>A (p.Ala5735Thr) rs202111641
NM_001271208.2(NEB):c.17215G>A (p.Asp5739Asn) rs200672818
NM_001271208.2(NEB):c.17234G>A (p.Arg5745Gln) rs773556106
NM_001271208.2(NEB):c.17242C>T (p.Arg5748Trp) rs546869744
NM_001271208.2(NEB):c.17243G>A (p.Arg5748Gln)
NM_001271208.2(NEB):c.17297C>T (p.Ser5766Phe)
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) rs1037281077
NM_001271208.2(NEB):c.1735G>T (p.Ala579Ser) rs758068422
NM_001271208.2(NEB):c.17369C>T (p.Thr5790Ile) rs752014573
NM_001271208.2(NEB):c.17376_17381del (p.Met5792_Asp5794delinsIle) rs765184893
NM_001271208.2(NEB):c.17380G>A (p.Asp5794Asn)
NM_001271208.2(NEB):c.17389G>A (p.Asp5797Asn)
NM_001271208.2(NEB):c.17396T>C (p.Ile5799Thr) rs1262861131
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) rs748311158
NM_001271208.2(NEB):c.17462G>A (p.Arg5821His) rs773239926
NM_001271208.2(NEB):c.17478G>A (p.Met5826Ile) rs1298196178
NM_001271208.2(NEB):c.17479C>T (p.Pro5827Ser) rs1560050173
NM_001271208.2(NEB):c.17491G>A (p.Val5831Met) rs772168965
NM_001271208.2(NEB):c.17518G>A (p.Ala5840Thr) rs376277385
NM_001271208.2(NEB):c.17519C>T (p.Ala5840Val) rs539856643
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) rs1577949283
NM_001271208.2(NEB):c.1754C>T (p.Ala585Val)
NM_001271208.2(NEB):c.17573C>T (p.Thr5858Met) rs747699601
NM_001271208.2(NEB):c.17619C>T (p.Gly5873=) rs767518298
NM_001271208.2(NEB):c.17627T>C (p.Leu5876Pro) rs1181510782
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.17681T>A (p.Leu5894His)
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.17845-5G>A rs373390654
NM_001271208.2(NEB):c.17865T>G (p.His5955Gln) rs1394078245
NM_001271208.2(NEB):c.17896C>G (p.Pro5966Ala)
NM_001271208.2(NEB):c.17897C>T (p.Pro5966Leu) rs368912483
NM_001271208.2(NEB):c.17900C>T (p.Thr5967Met) rs778982089
NM_001271208.2(NEB):c.17913T>A (p.Asp5971Glu) rs1167894918
NM_001271208.2(NEB):c.17915C>A (p.Pro5972His)
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.17980C>G (p.His5994Asp)
NM_001271208.2(NEB):c.18008C>G (p.Pro6003Arg)
NM_001271208.2(NEB):c.18037A>C (p.Lys6013Gln)
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.18096G>A (p.Met6032Ile)
NM_001271208.2(NEB):c.18115G>A (p.Asp6039Asn) rs377076154
NM_001271208.2(NEB):c.18122T>C (p.Ile6041Thr)
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) rs1577885822
NM_001271208.2(NEB):c.18166A>G (p.Arg6056Gly)
NM_001271208.2(NEB):c.18255G>A (p.Met6085Ile)
NM_001271208.2(NEB):c.18261+4C>G
NM_001271208.2(NEB):c.18261+5G>A
NM_001271208.2(NEB):c.18262-13C>T rs374553944
NM_001271208.2(NEB):c.1826T>C (p.Ile609Thr) rs748239538
NM_001271208.2(NEB):c.18278A>T (p.Asn6093Ile)
NM_001271208.2(NEB):c.1828G>A (p.Gly610Arg) rs1166853973
NM_001271208.2(NEB):c.18295C>T (p.Pro6099Ser)
NM_001271208.2(NEB):c.1829G>A (p.Gly610Glu) rs139125293
NM_001271208.2(NEB):c.18310G>C (p.Val6104Leu)
NM_001271208.2(NEB):c.18314T>C (p.Val6105Ala)
NM_001271208.2(NEB):c.18327G>T (p.Glu6109Asp)
NM_001271208.2(NEB):c.18330T>G (p.Ile6110Met)
NM_001271208.2(NEB):c.18374A>G (p.Tyr6125Cys)
NM_001271208.2(NEB):c.18398A>G (p.Lys6133Arg) rs199594449
NM_001271208.2(NEB):c.18431A>G (p.His6144Arg) rs34504204
NM_001271208.2(NEB):c.18439C>T (p.His6147Tyr) rs1577779523
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.18542T>C (p.Ile6181Thr) rs764500250
NM_001271208.2(NEB):c.18579+11C>T rs567282220
NM_001271208.2(NEB):c.18579+15T>C
NM_001271208.2(NEB):c.18596C>T (p.Thr6199Ile) rs1331648772
NM_001271208.2(NEB):c.185C>T (p.Ser62Leu)
NM_001271208.2(NEB):c.18613G>A (p.Gly6205Ser)
NM_001271208.2(NEB):c.18646T>C (p.Phe6216Leu) rs202211102
NM_001271208.2(NEB):c.18656T>G (p.Val6219Gly)
NM_001271208.2(NEB):c.18692C>T (p.Ala6231Val) rs375357016
NM_001271208.2(NEB):c.18694-3T>C rs370200484
NM_001271208.2(NEB):c.18694-6_18694-2del rs1377029367
NM_001271208.2(NEB):c.18709C>G (p.His6237Asp)
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.18737A>G (p.His6246Arg)
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.18763G>A (p.Val6255Met)
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) rs372804439
NM_001271208.2(NEB):c.18809_18811del (p.Arg6270del) rs1553762776
NM_001271208.2(NEB):c.18830C>T (p.Thr6277Met) rs371689870
NM_001271208.2(NEB):c.1883A>C (p.Lys628Thr) rs1176664285
NM_001271208.2(NEB):c.1883A>G (p.Lys628Arg)
NM_001271208.2(NEB):c.18859C>T (p.Arg6287Cys) rs374606967
NM_001271208.2(NEB):c.18860G>A (p.Arg6287His)
NM_001271208.2(NEB):c.18862G>A (p.Val6288Ile) rs201886728
NM_001271208.2(NEB):c.18866G>A (p.Arg6289Gln) rs575958060
NM_001271208.2(NEB):c.18870C>T (p.Asn6290=) rs200122580
NM_001271208.2(NEB):c.18893A>G (p.Asn6298Ser)
NM_001271208.2(NEB):c.18918G>T (p.Trp6306Cys) rs1559952676
NM_001271208.2(NEB):c.18948T>A (p.Asp6316Glu)
NM_001271208.2(NEB):c.18953C>T (p.Pro6318Leu) rs267598920
NM_001271208.2(NEB):c.1896T>A (p.Asp632Glu) rs978952705
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.19082G>A (p.Ser6361Asn) rs768390701
NM_001271208.2(NEB):c.19097G>A (p.Ser6366Asn)
NM_001271208.2(NEB):c.19101+5G>A rs374929094
NM_001271208.2(NEB):c.19121A>G (p.Tyr6374Cys)
NM_001271208.2(NEB):c.19137C>T (p.Asp6379=) rs778962225
NM_001271208.2(NEB):c.19139A>G (p.Lys6380Arg)
NM_001271208.2(NEB):c.19157A>G (p.Glu6386Gly) rs200056050
NM_001271208.2(NEB):c.19162G>A (p.Val6388Met)
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.19301A>C (p.His6434Pro) rs1577553776
NM_001271208.2(NEB):c.19313A>G (p.His6438Arg)
NM_001271208.2(NEB):c.19315-3T>C
NM_001271208.2(NEB):c.19315-4A>G rs778306769
NM_001271208.2(NEB):c.19324C>T (p.Arg6442Trp) rs746394316
NM_001271208.2(NEB):c.19325G>A (p.Arg6442Gln) rs375182306
NM_001271208.2(NEB):c.19358C>T (p.Thr6453Met) rs370810654
NM_001271208.2(NEB):c.19378G>A (p.Asp6460Asn)
NM_001271208.2(NEB):c.19385C>T (p.Pro6462Leu)
NM_001271208.2(NEB):c.19397G>A (p.Arg6466Gln) rs747425038
NM_001271208.2(NEB):c.19400G>C (p.Cys6467Ser) rs1577306997
NM_001271208.2(NEB):c.19406G>C (p.Arg6469Pro)
NM_001271208.2(NEB):c.19426G>A (p.Asp6476Asn)
NM_001271208.2(NEB):c.19428+8C>A rs773614835
NM_001271208.2(NEB):c.19429C>T (p.Arg6477Cys)
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.19486A>G (p.Met6496Val) rs1354087086
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.19535T>C (p.Ile6512Thr)
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.1954A>G (p.Thr652Ala)
NM_001271208.2(NEB):c.19550G>A (p.Arg6517His) rs149596493
NM_001271208.2(NEB):c.1957C>T (p.Pro653Ser) rs759215923
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) rs747034126
NM_001271208.2(NEB):c.19626T>C (p.Asp6542=) rs190336010
NM_001271208.2(NEB):c.19628T>C (p.Ile6543Thr)
NM_001271208.2(NEB):c.19675G>A (p.Val6559Ile) rs189232206
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>A (p.Arg6575His)
NM_001271208.2(NEB):c.19724G>T (p.Arg6575Leu) rs185999504
NM_001271208.2(NEB):c.19732-5G>A
NM_001271208.2(NEB):c.19739A>G (p.Tyr6580Cys)
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.19801G>A (p.Val6601Met) rs553079055
NM_001271208.2(NEB):c.19814A>G (p.Lys6605Arg)
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.19903G>A (p.Asp6635Asn)
NM_001271208.2(NEB):c.19912C>T (p.Arg6638Trp)
NM_001271208.2(NEB):c.19913G>A (p.Arg6638Gln)
NM_001271208.2(NEB):c.19915G>A (p.Ala6639Thr)
NM_001271208.2(NEB):c.19918C>T (p.Leu6640Phe)
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 rs201751179
NM_001271208.2(NEB):c.19966C>T (p.Arg6656Cys) rs527250558
NM_001271208.2(NEB):c.19967G>A (p.Arg6656His)
NM_001271208.2(NEB):c.19978A>G (p.Thr6660Ala)
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) rs1577105410
NM_001271208.2(NEB):c.20032C>T (p.Arg6678Cys) rs200239095
NM_001271208.2(NEB):c.20038A>G (p.Met6680Val)
NM_001271208.2(NEB):c.20098C>A (p.Leu6700Ile) rs202139330
NM_001271208.2(NEB):c.20099T>C (p.Leu6700Pro) rs560109089
NM_001271208.2(NEB):c.20128G>A (p.Val6710Ile) rs199890298
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.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.20218C>A (p.Pro6740Thr)
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.20290A>G (p.Met6764Val)
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.20359A>G (p.Thr6787Ala)
NM_001271208.2(NEB):c.20360C>T (p.Thr6787Ile)
NM_001271208.2(NEB):c.20367+15G>C rs886054931
NM_001271208.2(NEB):c.20371A>G (p.Lys6791Glu) rs758370711
NM_001271208.2(NEB):c.20434A>G (p.Met6812Val)
NM_001271208.2(NEB):c.20437G>A (p.Val6813Ile) rs951646007
NM_001271208.2(NEB):c.20440C>T (p.Arg6814Cys) rs765806782
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.20466+11A>G rs181826071
NM_001271208.2(NEB):c.20466+5G>C
NM_001271208.2(NEB):c.20466+7G>A rs201684605
NM_001271208.2(NEB):c.20504G>A (p.Arg6835Gln)
NM_001271208.2(NEB):c.20577+6G>A rs775513148
NM_001271208.2(NEB):c.20578-6G>A rs376710012
NM_001271208.2(NEB):c.20578-8A>G
NM_001271208.2(NEB):c.2062C>G (p.Pro688Ala) rs750276279
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.20711A>G (p.Glu6904Gly) rs886054930
NM_001271208.2(NEB):c.20721T>A (p.His6907Gln)
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.20765A>T (p.Asp6922Val)
NM_001271208.2(NEB):c.20776A>G (p.Met6926Val) rs1559707924
NM_001271208.2(NEB):c.20834C>T (p.Pro6945Leu)
NM_001271208.2(NEB):c.20846C>T (p.Thr6949Met) rs767461697
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.20897G>A (p.Arg6966His) rs767230683
NM_001271208.2(NEB):c.20906A>T (p.Glu6969Val) rs371680259
NM_001271208.2(NEB):c.20933A>G (p.Tyr6978Cys) rs761780939
NM_001271208.2(NEB):c.20941G>A (p.Val6981Met) rs374961597
NM_001271208.2(NEB):c.20945A>T (p.Lys6982Ile) rs776012642
NM_001271208.2(NEB):c.20956G>C (p.Asp6986His) rs150874422
NM_001271208.2(NEB):c.20968C>T (p.His6990Tyr)
NM_001271208.2(NEB):c.20972G>A (p.Arg6991His) rs781020561
NM_001271208.2(NEB):c.20977G>A (p.Val6993Ile) rs779881258
NM_001271208.2(NEB):c.2099A>G (p.Asn700Ser)
NM_001271208.2(NEB):c.21010_21012del (p.Glu7004del) rs770208836
NM_001271208.2(NEB):c.21056G>A (p.Arg7019His)
NM_001271208.2(NEB):c.2106+3A>C rs1553589058
NM_001271208.2(NEB):c.2107-8C>T rs369441230
NM_001271208.2(NEB):c.21102T>C (p.Asp7034=) rs531711771
NM_001271208.2(NEB):c.21155A>G (p.Tyr7052Cys)
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.21212A>G (p.Lys7071Arg)
NM_001271208.2(NEB):c.21215A>G (p.Tyr7072Cys)
NM_001271208.2(NEB):c.21221A>G (p.Glu7074Gly)
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) rs371704528
NM_001271208.2(NEB):c.21312+5G>A rs778363526
NM_001271208.2(NEB):c.21316A>G (p.Lys7106Glu)
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) rs372827767
NM_001271208.2(NEB):c.21348T>A (p.Asp7116Glu) rs199934793
NM_001271208.2(NEB):c.21359T>C (p.Leu7120Pro)
NM_001271208.2(NEB):c.21392A>T (p.Lys7131Met)
NM_001271208.2(NEB):c.21397G>T (p.Ala7133Ser) rs988993094
NM_001271208.2(NEB):c.21402C>T (p.Gly7134=)
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.2162C>T (p.Thr721Ile)
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) rs754959175
NM_001271208.2(NEB):c.2234A>G (p.Asp745Gly)
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.2272C>A (p.Leu758Met)
NM_001271208.2(NEB):c.2353C>A (p.His785Asn)
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.2432A>T (p.Asp811Val)
NM_001271208.2(NEB):c.2437G>A (p.Glu813Lys) rs752442261
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.2485C>G (p.Leu829Val)
NM_001271208.2(NEB):c.2510A>G (p.Lys837Arg) rs189623595
NM_001271208.2(NEB):c.2515A>G (p.Thr839Ala)
NM_001271208.2(NEB):c.2523+6T>C
NM_001271208.2(NEB):c.2533A>G (p.Lys845Glu) rs772154599
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.2593C>T (p.Pro865Ser)
NM_001271208.2(NEB):c.2630A>G (p.Gln877Arg) rs373892420
NM_001271208.2(NEB):c.2630A>T (p.Gln877Leu) rs373892420
NM_001271208.2(NEB):c.2638C>T (p.Arg880Cys)
NM_001271208.2(NEB):c.2639G>A (p.Arg880His) rs202026890
NM_001271208.2(NEB):c.2648G>A (p.Arg883Gln)
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.2762T>C (p.Leu921Ser)
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.2833G>T (p.Asp945Tyr)
NM_001271208.2(NEB):c.2875_2877del (p.Cys959del) rs766232587
NM_001271208.2(NEB):c.2909A>T (p.Glu970Val)
NM_001271208.2(NEB):c.2923G>A (p.Ala975Thr) rs917645712
NM_001271208.2(NEB):c.293C>T (p.Pro98Leu) rs201473194
NM_001271208.2(NEB):c.2940T>C (p.Asn980=)
NM_001271208.2(NEB):c.2943+3dup
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.2968A>G (p.Thr990Ala)
NM_001271208.2(NEB):c.2987T>C (p.Ile996Thr) rs753691207
NM_001271208.2(NEB):c.2998C>T (p.Pro1000Ser) rs763910385
NM_001271208.2(NEB):c.3007G>C (p.Val1003Leu) rs149471462
NM_001271208.2(NEB):c.3022A>G (p.Asn1008Asp) rs1576128802
NM_001271208.2(NEB):c.3042+3_3042+6del
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.3131C>G (p.Ala1044Gly)
NM_001271208.2(NEB):c.3154T>C (p.Tyr1052His) rs1553539456
NM_001271208.2(NEB):c.3155A>G (p.Tyr1052Cys) rs758214665
NM_001271208.2(NEB):c.3203C>T (p.Thr1068Ile) rs769233880
NM_001271208.2(NEB):c.3209C>T (p.Ala1070Val)
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) rs1576082029
NM_001271208.2(NEB):c.3245C>T (p.Ala1082Val) rs752809792
NM_001271208.2(NEB):c.3255+2dup rs1276026682
NM_001271208.2(NEB):c.3255C>T (p.Asp1085=) rs368625295
NM_001271208.2(NEB):c.3349G>A (p.Val1117Met)
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.3373G>C (p.Glu1125Gln) rs757784515
NM_001271208.2(NEB):c.3397A>G (p.Thr1133Ala) rs1294520829
NM_001271208.2(NEB):c.3399A>G (p.Thr1133=) rs543961404
NM_001271208.2(NEB):c.3416C>T (p.Thr1139Met) rs181244403
NM_001271208.2(NEB):c.3424G>A (p.Asp1142Asn)
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.3445G>T (p.Ala1149Ser)
NM_001271208.2(NEB):c.3491C>A (p.Ser1164Tyr) rs944276562
NM_001271208.2(NEB):c.3520G>A (p.Ala1174Thr) rs756135837
NM_001271208.2(NEB):c.3545_3547del (p.Asn1182del) rs1553534580
NM_001271208.2(NEB):c.3547A>G (p.Met1183Val)
NM_001271208.2(NEB):c.355A>G (p.Thr119Ala) rs182207224
NM_001271208.2(NEB):c.3567+3_3567+6del rs1553534336
NM_001271208.2(NEB):c.3567T>A (p.Asp1189Glu)
NM_001271208.2(NEB):c.3571G>A (p.Val1191Ile)
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.3634G>A (p.Asp1212Asn)
NM_001271208.2(NEB):c.3637G>A (p.Val1213Ile) rs202124287
NM_001271208.2(NEB):c.3640G>A (p.Glu1214Lys)
NM_001271208.2(NEB):c.3658G>A (p.Gly1220Ser)
NM_001271208.2(NEB):c.3676_3678AAG[1] (p.Lys1227del) rs1553532187
NM_001271208.2(NEB):c.3677A>G (p.Lys1226Arg)
NM_001271208.2(NEB):c.367C>T (p.Arg123Cys) rs200555425
NM_001271208.2(NEB):c.368G>A (p.Arg123His) rs546250852
NM_001271208.2(NEB):c.3694C>G (p.Pro1232Ala) rs776796255
NM_001271208.2(NEB):c.3713C>T (p.Thr1238Ile)
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.3774+4A>C
NM_001271208.2(NEB):c.3776T>C (p.Ile1259Thr) rs1553522143
NM_001271208.2(NEB):c.3788C>A (p.Ala1263Asp) rs1575886894
NM_001271208.2(NEB):c.3795_3797AGA[1] (p.Glu1266del) rs1553522046
NM_001271208.2(NEB):c.3815A>G (p.Tyr1272Cys)
NM_001271208.2(NEB):c.3874A>G (p.Ser1292Gly) rs1553521537
NM_001271208.2(NEB):c.3879+8G>A rs376511134
NM_001271208.2(NEB):c.394C>T (p.Leu132Phe)
NM_001271208.2(NEB):c.3964G>T (p.Ala1322Ser) rs376611641
NM_001271208.2(NEB):c.3986A>C (p.Asp1329Ala) rs115986826
NM_001271208.2(NEB):c.3987T>C (p.Asp1329=)
NM_001271208.2(NEB):c.402+4G>A
NM_001271208.2(NEB):c.403G>A (p.Val135Ile) rs373729655
NM_001271208.2(NEB):c.4046T>C (p.Leu1349Pro) rs183667452
NM_001271208.2(NEB):c.4072T>C (p.Tyr1358His) rs377054979
NM_001271208.2(NEB):c.4102C>T (p.Arg1368Cys)
NM_001271208.2(NEB):c.4103G>A (p.Arg1368His) rs201984572
NM_001271208.2(NEB):c.4105G>A (p.Glu1369Lys) rs779213215
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.413G>A (p.Arg138Gln) rs747423578
NM_001271208.2(NEB):c.4149C>T (p.Thr1383=) rs148794372
NM_001271208.2(NEB):c.4151C>G (p.Pro1384Arg)
NM_001271208.2(NEB):c.4166G>A (p.Ser1389Asn) rs534646949
NM_001271208.2(NEB):c.4198G>A (p.Ala1400Thr) rs113174390
NM_001271208.2(NEB):c.4204A>G (p.Asn1402Asp) rs1219268531
NM_001271208.2(NEB):c.422G>A (p.Gly141Asp) rs973669056
NM_001271208.2(NEB):c.422G>T (p.Gly141Val) rs973669056
NM_001271208.2(NEB):c.4244T>A (p.Leu1415Gln)
NM_001271208.2(NEB):c.426T>A (p.Asp142Glu) rs200590080
NM_001271208.2(NEB):c.4271C>T (p.Thr1424Met) rs372694084
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.4315G>A (p.Glu1439Lys)
NM_001271208.2(NEB):c.4337G>T (p.Gly1446Val) rs541803470
NM_001271208.2(NEB):c.4343G>C (p.Gly1448Ala)
NM_001271208.2(NEB):c.4372G>A (p.Glu1458Lys) rs1559073472
NM_001271208.2(NEB):c.4392C>T (p.Gly1464=)
NM_001271208.2(NEB):c.43A>G (p.Thr15Ala)
NM_001271208.2(NEB):c.4413G>A (p.Lys1471=)
NM_001271208.2(NEB):c.441A>G (p.Ile147Met)
NM_001271208.2(NEB):c.4432A>G (p.Thr1478Ala)
NM_001271208.2(NEB):c.4463T>C (p.Met1488Thr) rs201545521
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) rs769642582
NM_001271208.2(NEB):c.448G>A (p.Val150Ile) rs376288418
NM_001271208.2(NEB):c.4507-3T>C rs747017871
NM_001271208.2(NEB):c.4548T>C (p.Tyr1516=) rs748479655
NM_001271208.2(NEB):c.4555G>A (p.Asp1519Asn) rs781655186
NM_001271208.2(NEB):c.4595C>A (p.Ala1532Asp) rs1456966310
NM_001271208.2(NEB):c.4612G>C (p.Ala1538Pro) rs781263453
NM_001271208.2(NEB):c.4649A>G (p.Lys1550Arg) rs114089598
NM_001271208.2(NEB):c.4652G>A (p.Gly1551Asp)
NM_001271208.2(NEB):c.4655A>G (p.Tyr1552Cys) rs1257025966
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.4736C>T (p.Ala1579Val)
NM_001271208.2(NEB):c.475C>T (p.His159Tyr) rs776746330
NM_001271208.2(NEB):c.4789C>T (p.Pro1597Ser)
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>A (p.Arg1612Ser)
NM_001271208.2(NEB):c.4834C>T (p.Arg1612Cys) rs200545007
NM_001271208.2(NEB):c.4835G>T (p.Arg1612Leu) rs534531948
NM_001271208.2(NEB):c.4843A>G (p.Lys1615Glu)
NM_001271208.2(NEB):c.4883C>A (p.Pro1628His)
NM_001271208.2(NEB):c.4894G>A (p.Val1632Ile) rs1575593044
NM_001271208.2(NEB):c.4904C>T (p.Thr1635Ile) rs199662534
NM_001271208.2(NEB):c.491C>T (p.Ser164Leu) rs747225286
NM_001271208.2(NEB):c.4939G>A (p.Ala1647Thr)
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.5024A>G (p.Gln1675Arg)
NM_001271208.2(NEB):c.5029G>A (p.Asp1677Asn)
NM_001271208.2(NEB):c.5031+1G>A rs1553495140
NM_001271208.2(NEB):c.5074G>A (p.Gly1692Ser)
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.5095C>G (p.Leu1699Val)
NM_001271208.2(NEB):c.5120C>A (p.Ala1707Glu) rs1575576650
NM_001271208.2(NEB):c.5123G>A (p.Gly1708Glu)
NM_001271208.2(NEB):c.5132T>C (p.Leu1711Pro)
NM_001271208.2(NEB):c.5140_5142AAG[1] (p.Lys1715del) rs1553492424
NM_001271208.2(NEB):c.5170_5172del (p.Lys1724del) rs1553492107
NM_001271208.2(NEB):c.5174T>C (p.Phe1725Ser) rs368270996
NM_001271208.2(NEB):c.5177C>T (p.Thr1726Ile)
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) rs370000978
NM_001271208.2(NEB):c.5301G>A (p.Pro1767=) rs150496369
NM_001271208.2(NEB):c.5332A>T (p.Thr1778Ser)
NM_001271208.2(NEB):c.5374A>G (p.Lys1792Glu) rs541641039
NM_001271208.2(NEB):c.5395A>C (p.Arg1799=)
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.5420C>T (p.Ala1807Val) rs373790988
NM_001271208.2(NEB):c.5434A>G (p.Arg1812Gly) rs1466182533
NM_001271208.2(NEB):c.5444C>G (p.Ala1815Gly) rs767491081
NM_001271208.2(NEB):c.5495T>C (p.Ile1832Thr) rs751494785
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.5515G>A (p.Asp1839Asn)
NM_001271208.2(NEB):c.5554A>G (p.Met1852Val)
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.5565C>A (p.Asp1855Glu)
NM_001271208.2(NEB):c.5566C>T (p.Arg1856Trp) rs755791156
NM_001271208.2(NEB):c.5581G>A (p.Gly1861Arg) rs1413371715
NM_001271208.2(NEB):c.5612C>A (p.Thr1871Asn)
NM_001271208.2(NEB):c.5616G>A (p.Pro1872=) rs368371414
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.5717C>T (p.Ala1906Val)
NM_001271208.2(NEB):c.5761G>T (p.Asp1921Tyr)
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) rs755003638
NM_001271208.2(NEB):c.5801G>A (p.Gly1934Asp) rs763717355
NM_001271208.2(NEB):c.5806G>A (p.Gly1936Arg)
NM_001271208.2(NEB):c.5816C>T (p.Pro1939Leu)
NM_001271208.2(NEB):c.5828T>A (p.Leu1943Gln)
NM_001271208.2(NEB):c.5849A>G (p.Lys1950Arg) rs758655350
NM_001271208.2(NEB):c.5853C>A (p.Ala1951=) rs757546480
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.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.6020T>C (p.Met2007Thr) rs199862790
NM_001271208.2(NEB):c.6032C>T (p.Pro2011Leu)
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.6085A>C (p.Lys2029Gln) rs1387009037
NM_001271208.2(NEB):c.6097G>A (p.Glu2033Lys) rs956309067
NM_001271208.2(NEB):c.6119A>G (p.Tyr2040Cys) rs756926807
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) rs755853362
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.6225G>T (p.Met2075Ile)
NM_001271208.2(NEB):c.6227T>A (p.Val2076Asp)
NM_001271208.2(NEB):c.6235C>T (p.Arg2079Cys)
NM_001271208.2(NEB):c.6242T>G (p.Leu2081Arg)
NM_001271208.2(NEB):c.6244G>A (p.Glu2082Lys) rs372667149
NM_001271208.2(NEB):c.6262G>A (p.Val2088Ile)
NM_001271208.2(NEB):c.6278T>C (p.Val2093Ala) rs147476634
NM_001271208.2(NEB):c.6298C>T (p.Arg2100Trp)
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) rs578023308
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.6388G>A (p.Ala2130Thr)
NM_001271208.2(NEB):c.6392A>T (p.Asn2131Ile) rs781202038
NM_001271208.2(NEB):c.6400A>G (p.Asn2134Asp) rs751935179
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.6479A>G (p.Asn2160Ser)
NM_001271208.2(NEB):c.6481C>T (p.Arg2161Cys) rs201758329
NM_001271208.2(NEB):c.6482G>A (p.Arg2161His) rs373778424
NM_001271208.2(NEB):c.6488A>G (p.Gln2163Arg) rs200813844
NM_001271208.2(NEB):c.6493G>A (p.Asp2165Asn)
NM_001271208.2(NEB):c.6493G>C (p.Asp2165His) rs1234273631
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.6554G>T (p.Gly2185Val)
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.6614G>A (p.Arg2205His)
NM_001271208.2(NEB):c.6624G>A (p.Pro2208=) rs373278622
NM_001271208.2(NEB):c.6629A>G (p.Asn2210Ser)
NM_001271208.2(NEB):c.662A>G (p.Tyr221Cys) rs571230045
NM_001271208.2(NEB):c.6660G>A (p.Met2220Ile) rs199766131
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.6732T>G (p.Asp2244Glu)
NM_001271208.2(NEB):c.6799_6804del (p.Tyr2267_Ser2268del) rs1209177139
NM_001271208.2(NEB):c.6807+5A>G
NM_001271208.2(NEB):c.6815A>G (p.Tyr2272Cys)
NM_001271208.2(NEB):c.6817A>G (p.Lys2273Glu) rs199700878
NM_001271208.2(NEB):c.6868G>A (p.Ala2290Thr)
NM_001271208.2(NEB):c.6869C>T (p.Ala2290Val) rs756114192
NM_001271208.2(NEB):c.6873T>G (p.Ile2291Met) rs1265000238
NM_001271208.2(NEB):c.6884T>C (p.Leu2295Pro)
NM_001271208.2(NEB):c.6893C>T (p.Ala2298Val) rs1280388530
NM_001271208.2(NEB):c.6916-16_6916-8del
NM_001271208.2(NEB):c.6956_6967del (p.His2319_Phe2322del) rs1553449735
NM_001271208.2(NEB):c.6961G>A (p.Gly2321Arg) rs1575132924
NM_001271208.2(NEB):c.6967C>T (p.Arg2323Trp)
NM_001271208.2(NEB):c.6968G>A (p.Arg2323Gln) rs369456343
NM_001271208.2(NEB):c.6994G>C (p.Val2332Leu)
NM_001271208.2(NEB):c.7016A>G (p.Lys2339Arg)
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.7160A>G (p.Gln2387Arg)
NM_001271208.2(NEB):c.7176T>C (p.Pro2392=) rs1042667385
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.7233A>G (p.Leu2411=)
NM_001271208.2(NEB):c.7235A>G (p.Tyr2412Cys) rs1575122611
NM_001271208.2(NEB):c.7246C>G (p.Leu2416Val)
NM_001271208.2(NEB):c.7252T>A (p.Trp2418Arg) rs780437384
NM_001271208.2(NEB):c.7273A>T (p.Ser2425Cys)
NM_001271208.2(NEB):c.7309C>T (p.Arg2437Trp) rs375164626
NM_001271208.2(NEB):c.7310G>T (p.Arg2437Leu)
NM_001271208.2(NEB):c.7324A>G (p.Ile2442Val) rs1553447698
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.7387A>T (p.Met2463Leu)
NM_001271208.2(NEB):c.739G>A (p.Ala247Thr)
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.7487A>G (p.Asp2496Gly)
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.7581C>T (p.Tyr2527=) rs200425929
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.7623C>T (p.Ala2541=) rs371570995
NM_001271208.2(NEB):c.7627C>T (p.Arg2543Trp)
NM_001271208.2(NEB):c.7628G>A (p.Arg2543Gln) rs758589097
NM_001271208.2(NEB):c.7644A>G (p.Glu2548=) rs916950454
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) rs1334008702
NM_001271208.2(NEB):c.7696C>T (p.Arg2566Trp) rs368232288
NM_001271208.2(NEB):c.771_772inv (p.Asp258Asn)
NM_001271208.2(NEB):c.772G>A (p.Asp258Asn) rs267598926
NM_001271208.2(NEB):c.7740G>A (p.Val2580=)
NM_001271208.2(NEB):c.7758C>T (p.Asp2586=)
NM_001271208.2(NEB):c.7761G>C (p.Arg2587Ser) rs869312958
NM_001271208.2(NEB):c.7778T>C (p.Phe2593Ser)
NM_001271208.2(NEB):c.7788G>T (p.Trp2596Cys)
NM_001271208.2(NEB):c.778C>T (p.Pro260Ser)
NM_001271208.2(NEB):c.7808C>T (p.Pro2603Leu)
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) rs563691738
NM_001271208.2(NEB):c.7867G>A (p.Asp2623Asn)
NM_001271208.2(NEB):c.7875G>A (p.Lys2625=) rs577894144
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) rs1574937918
NM_001271208.2(NEB):c.7953C>T (p.Ser2651=) rs183764569
NM_001271208.2(NEB):c.7956+4A>G rs886054944
NM_001271208.2(NEB):c.7964A>G (p.Tyr2655Cys)
NM_001271208.2(NEB):c.7983G>T (p.Trp2661Cys)
NM_001271208.2(NEB):c.8020G>A (p.Glu2674Lys) rs369224273
NM_001271208.2(NEB):c.8024A>G (p.Asp2675Gly) rs183354017
NM_001271208.2(NEB):c.8035A>G (p.Lys2679Glu)
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.8101A>G (p.Ser2701Gly)
NM_001271208.2(NEB):c.8104C>T (p.Leu2702Phe)
NM_001271208.2(NEB):c.8111A>C (p.Asp2704Ala)
NM_001271208.2(NEB):c.8125G>A (p.Val2709Ile) rs368637389
NM_001271208.2(NEB):c.8146A>G (p.Ile2716Val) rs1574917037
NM_001271208.2(NEB):c.8152A>T (p.Met2718Leu) rs767511888
NM_001271208.2(NEB):c.8161C>T (p.Arg2721Cys) rs570763682
NM_001271208.2(NEB):c.8162G>A (p.Arg2721His) rs753996512
NM_001271208.2(NEB):c.8203C>G (p.His2735Asp) rs759848500
NM_001271208.2(NEB):c.8219C>T (p.Thr2740Ile)
NM_001271208.2(NEB):c.8224G>C (p.Glu2742Gln)
NM_001271208.2(NEB):c.8257T>C (p.Tyr2753His)
NM_001271208.2(NEB):c.8265+3A>T
NM_001271208.2(NEB):c.8315T>G (p.Met2772Arg) rs1574896797
NM_001271208.2(NEB):c.8326G>C (p.Ala2776Pro)
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.8356A>G (p.Arg2786Gly) rs201747395
NM_001271208.2(NEB):c.8381A>T (p.Tyr2794Phe) rs750548574
NM_001271208.2(NEB):c.8393A>G (p.Tyr2798Cys) rs750799792
NM_001271208.2(NEB):c.8467G>A (p.Val2823Met) rs757497327
NM_001271208.2(NEB):c.8469G>A (p.Val2823=) rs1574818802
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.8537C>T (p.Pro2846Leu)
NM_001271208.2(NEB):c.853A>G (p.Ile285Val)
NM_001271208.2(NEB):c.8545A>T (p.Met2849Leu)
NM_001271208.2(NEB):c.8554G>T (p.Val2852Leu)
NM_001271208.2(NEB):c.8598C>G (p.Asp2866Glu) rs1553966356
NM_001271208.2(NEB):c.8635G>A (p.Asp2879Asn)
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.8648T>C (p.Val2883Ala)
NM_001271208.2(NEB):c.8660G>A (p.Arg2887Gln)
NM_001271208.2(NEB):c.8682C>A (p.Ser2894Arg) rs373799650
NM_001271208.2(NEB):c.8683G>A (p.Asp2895Asn)
NM_001271208.2(NEB):c.8686-3C>T
NM_001271208.2(NEB):c.8690T>C (p.Met2897Thr) rs747466015
NM_001271208.2(NEB):c.8718A>C (p.Arg2906Ser)
NM_001271208.2(NEB):c.8733_8734inv (p.Ser2912Pro)
NM_001271208.2(NEB):c.8738T>C (p.Ile2913Thr) rs368373064
NM_001271208.2(NEB):c.8753T>G (p.Val2918Gly)
NM_001271208.2(NEB):c.877C>T (p.Pro293Ser) rs200672688
NM_001271208.2(NEB):c.8789A>G (p.Asp2930Gly)
NM_001271208.2(NEB):c.8796C>A (p.Ile2932=) rs886054943
NM_001271208.2(NEB):c.8801G>A (p.Arg2934His) rs200307392
NM_001271208.2(NEB):c.8834T>C (p.Val2945Ala)
NM_001271208.2(NEB):c.8864A>G (p.Lys2955Arg) rs760903716
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.8897A>G (p.Tyr2966Cys) rs1560822452
NM_001271208.2(NEB):c.8968A>G (p.Arg2990Gly) rs765940770
NM_001271208.2(NEB):c.8972T>G (p.Met2991Arg)
NM_001271208.2(NEB):c.8978A>G (p.Lys2993Arg) rs138217855
NM_001271208.2(NEB):c.9002A>G (p.Tyr3001Cys) rs1574635522
NM_001271208.2(NEB):c.9007C>G (p.Leu3003Val) rs1415513452
NM_001271208.2(NEB):c.902_903delinsAT (p.Arg301Asn)
NM_001271208.2(NEB):c.9047G>A (p.Arg3016Gln) rs373587647
NM_001271208.2(NEB):c.904A>G (p.Met302Val)
NM_001271208.2(NEB):c.9053_9067del (p.Asp3018_Ile3022del) rs1165631470
NM_001271208.2(NEB):c.9055G>A (p.Ala3019Thr) rs370738668
NM_001271208.2(NEB):c.9067G>A (p.Val3023Met) rs377375638
NM_001271208.2(NEB):c.9112A>G (p.Lys3038Glu) rs780293943
NM_001271208.2(NEB):c.9125G>A (p.Cys3042Tyr)
NM_001271208.2(NEB):c.9139C>A (p.His3047Asn) rs147168910
NM_001271208.2(NEB):c.9154C>T (p.Arg3052Trp)
NM_001271208.2(NEB):c.9178A>G (p.Met3060Val) rs538524863
NM_001271208.2(NEB):c.9196G>A (p.Val3066Ile)
NM_001271208.2(NEB):c.9329A>G (p.Tyr3110Cys) rs778306283
NM_001271208.2(NEB):c.934T>C (p.Tyr312His)
NM_001271208.2(NEB):c.9352A>T (p.Thr3118Ser) rs543100735
NM_001271208.2(NEB):c.9373G>A (p.Asp3125Asn)
NM_001271208.2(NEB):c.9383A>G (p.His3128Arg)
NM_001271208.2(NEB):c.938A>G (p.Gln313Arg) rs1559506055
NM_001271208.2(NEB):c.9425A>G (p.Lys3142Arg) rs771774138
NM_001271208.2(NEB):c.9466A>T (p.Ile3156Phe)
NM_001271208.2(NEB):c.9467T>C (p.Ile3156Thr)
NM_001271208.2(NEB):c.9473C>G (p.Ser3158Cys) rs377606986
NM_001271208.2(NEB):c.9481G>A (p.Val3161Met) rs1560693635
NM_001271208.2(NEB):c.9494A>G (p.Lys3165Arg)
NM_001271208.2(NEB):c.9529C>T (p.Arg3177Cys)
NM_001271208.2(NEB):c.9542A>C (p.Asp3181Ala) rs767042929
NM_001271208.2(NEB):c.955A>G (p.Met319Val)
NM_001271208.2(NEB):c.9568G>T (p.Asp3190Tyr)
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) rs111841612
NM_001271208.2(NEB):c.9631G>A (p.Glu3211Lys)
NM_001271208.2(NEB):c.9659T>G (p.Ile3220Ser)
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.9723+4G>A
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.9769G>A (p.Asp3257Asn)
NM_001271208.2(NEB):c.9776G>A (p.Arg3259Gln)
NM_001271208.2(NEB):c.9796G>A (p.Val3266Met) rs564504601
NM_001271208.2(NEB):c.9819_9820insAGG (p.Val3274_Ile3275insArg) rs1553934027
NM_001271208.2(NEB):c.9827G>A (p.Ser3276Asn) rs1168444365
NM_001271208.2(NEB):c.9832-7A>T rs778183317
NM_001271208.2(NEB):c.9836A>G (p.Lys3279Arg)
NM_001271208.2(NEB):c.9848G>A (p.Gly3283Asp)
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.9866G>A (p.Gly3289Asp)
NM_001271208.2(NEB):c.9875T>C (p.Ile3292Thr)
NM_001271208.2(NEB):c.9878G>C (p.Gly3293Ala) rs199890164
NM_001271208.2(NEB):c.9883C>T (p.Arg3295Trp)
NM_001271208.2(NEB):c.9921G>A (p.Met3307Ile) rs756185799
NM_001271208.2(NEB):c.9922C>T (p.His3308Tyr)
NM_001271208.2(NEB):c.992C>G (p.Pro331Arg) rs763822076
NM_001271208.2(NEB):c.994G>A (p.Glu332Lys) rs748518353
NM_001271208.2(NEB):c.9986T>A (p.Phe3329Tyr)

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