ClinVar Miner

List of variants studied for Nemaline myopathy 2 by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1882
Download table as spreadsheet
HGVS dbSNP
NC_000002.12:g.(?_151485750)_(151957616_?)del
NC_000002.12:g.(?_151496266)_(151497728_?)del
NC_000002.12:g.(?_151496921)_(151497053_?)del
NC_000002.12:g.(?_151496921)_(151497738_?)del
NC_000002.12:g.(?_151496931)_(151497043_?)del
NC_000002.12:g.(?_151614266)_(151697658_?)del
NC_000002.12:g.(?_151645758)_(151648259_?)del
NC_000002.12:g.(?_151646110)_(151646254_?)del
NC_000002.12:g.(?_151646120)_(151646244_?)del
NM_001271208.1(NEB):c.21213_21218del (p.Tyr7072_Lys7073del) rs1553683577
NM_001271208.1(NEB):c.7523_7526del rs878854368
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.10047C>T (p.Ser3349=) rs763268909
NM_001271208.2(NEB):c.1006_1018del (p.Asn336fs)
NM_001271208.2(NEB):c.10074C>T (p.His3358=) rs896373241
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.10083G>A (p.Thr3361=) rs778762176
NM_001271208.2(NEB):c.10087C>A (p.Leu3363Met)
NM_001271208.2(NEB):c.10092C>T (p.Pro3364=) rs768708852
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.10140C>T (p.Ser3380=) rs199870629
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.10144-17_10144-9dup rs1574263120
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.10233T>C (p.Ala3411=) rs727504033
NM_001271208.2(NEB):c.10258C>T (p.Arg3420Cys) rs201596787
NM_001271208.2(NEB):c.10269G>A (p.Pro3423=) rs368719373
NM_001271208.2(NEB):c.10299C>G (p.Asp3433Glu) rs180847025
NM_001271208.2(NEB):c.10338T>C (p.Asn3446=) rs147569843
NM_001271208.2(NEB):c.10341G>A (p.Met3447Ile) rs370053963
NM_001271208.2(NEB):c.10344C>T (p.Asn3448=) rs145052299
NM_001271208.2(NEB):c.10347+6C>T rs141088433
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.1035+7G>A rs748388746
NM_001271208.2(NEB):c.1035+8G>A rs755517435
NM_001271208.2(NEB):c.10358C>A (p.Thr3453Lys)
NM_001271208.2(NEB):c.10377C>T (p.Asp3459=) rs373823362
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.10434T>C (p.Asn3478=) rs375543045
NM_001271208.2(NEB):c.10452+5G>A rs370685957
NM_001271208.2(NEB):c.10452+9A>G rs117270796
NM_001271208.2(NEB):c.1045A>C (p.Lys349Gln) rs369153778
NM_001271208.2(NEB):c.10462C>T (p.Arg3488Cys)
NM_001271208.2(NEB):c.10463G>A (p.Arg3488His) rs371605774
NM_001271208.2(NEB):c.10471A>G (p.Met3491Val)
NM_001271208.2(NEB):c.10493del (p.Gly3498fs) rs1574014358
NM_001271208.2(NEB):c.104C>T (p.Thr35Met)
NM_001271208.2(NEB):c.10537G>A (p.Ala3513Thr) rs1560541262
NM_001271208.2(NEB):c.10561-9C>T rs1573943509
NM_001271208.2(NEB):c.10578A>G (p.Ala3526=) rs760118695
NM_001271208.2(NEB):c.10583G>A (p.Arg3528His) rs199584268
NM_001271208.2(NEB):c.10589A>T (p.Gln3530Leu)
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.10612C>T (p.Arg3538Ter) rs779909544
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.10744G>A (p.Val3582Ile) rs139798654
NM_001271208.2(NEB):c.10800G>A (p.Leu3600=) rs1189151767
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.10816C>T (p.Leu3606=) rs1188058379
NM_001271208.2(NEB):c.10819C>A (p.Pro3607Thr)
NM_001271208.2(NEB):c.10821C>T (p.Pro3607=) rs375814899
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.10899G>A (p.Trp3633Ter) rs780343350
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.10977T>C (p.Asp3659=) rs767853017
NM_001271208.2(NEB):c.10986C>T (p.Tyr3662=) rs373365702
NM_001271208.2(NEB):c.10992G>C (p.Gln3664His)
NM_001271208.2(NEB):c.11004G>A (p.Thr3668=) rs117018177
NM_001271208.2(NEB):c.11005C>A (p.Leu3669Met)
NM_001271208.2(NEB):c.11010dup (p.Phe3671fs)
NM_001271208.2(NEB):c.11025G>A (p.Thr3675=) rs199789085
NM_001271208.2(NEB):c.11033C>T (p.Pro3678Leu)
NM_001271208.2(NEB):c.11034G>A (p.Pro3678=) rs528974814
NM_001271208.2(NEB):c.11054dup (p.Asn3685fs) rs1560499498
NM_001271208.2(NEB):c.11067C>T (p.Asn3689=) rs200427401
NM_001271208.2(NEB):c.11072A>G (p.Asn3691Ser) rs1184035076
NM_001271208.2(NEB):c.11077-1G>A rs1458096844
NM_001271208.2(NEB):c.11077-4G>T rs878924060
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.11148G>C (p.Met3716Ile) rs149025191
NM_001271208.2(NEB):c.11181+3A>G rs1448725511
NM_001271208.2(NEB):c.11181T>A (p.Asp3727Glu) rs551261559
NM_001271208.2(NEB):c.11182-8T>A rs183088493
NM_001271208.2(NEB):c.11199T>C (p.Ala3733=) rs756871030
NM_001271208.2(NEB):c.1119G>A (p.Arg373=) rs200914626
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.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.11341C>T (p.Arg3781Trp) rs533027587
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.11394C>T (p.Ile3798=) rs756403694
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.11457G>A (p.Val3819=) rs780152095
NM_001271208.2(NEB):c.11467G>C (p.Gly3823Arg) rs1489953672
NM_001271208.2(NEB):c.11498T>C (p.Leu3833Pro)
NM_001271208.2(NEB):c.114G>A (p.Arg38=) rs1578040445
NM_001271208.2(NEB):c.11506G>T (p.Asp3836Tyr)
NM_001271208.2(NEB):c.1152+1G>A rs398124167
NM_001271208.2(NEB):c.1152+1G>C
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.11533G>T (p.Glu3845Ter)
NM_001271208.2(NEB):c.11540C>A (p.Thr3847Asn)
NM_001271208.2(NEB):c.11559T>C (p.Asn3853=) rs369429046
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.11585_11586delinsC (p.Tyr3862fs) rs1553896522
NM_001271208.2(NEB):c.11589C>T (p.Asp3863=) rs372772607
NM_001271208.2(NEB):c.11613del (p.Lys3871fs)
NM_001271208.2(NEB):c.1161C>G (p.Tyr387Ter) rs1259297878
NM_001271208.2(NEB):c.11627G>A (p.Trp3876Ter) rs776569219
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.11670C>T (p.Val3890=) rs757703477
NM_001271208.2(NEB):c.11671G>A (p.Glu3891Lys)
NM_001271208.2(NEB):c.11683A>G (p.Arg3895Gly) rs1015014078
NM_001271208.2(NEB):c.11709G>A (p.Arg3903=) rs570142622
NM_001271208.2(NEB):c.11712G>A (p.Lys3904=) rs767231395
NM_001271208.2(NEB):c.11716C>T (p.Arg3906Cys)
NM_001271208.2(NEB):c.11717G>A (p.Arg3906His)
NM_001271208.2(NEB):c.11729A>G (p.Asp3910Gly) rs35740585
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.11769T>C (p.Ile3923=) rs80320923
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.11806-1G>A rs886041851
NM_001271208.2(NEB):c.11806-7C>A rs779713133
NM_001271208.2(NEB):c.1182A>C (p.Thr394=) rs186233985
NM_001271208.2(NEB):c.1182A>G (p.Thr394=) rs186233985
NM_001271208.2(NEB):c.11843C>T (p.Ser3948Phe)
NM_001271208.2(NEB):c.11850C>T (p.His3950=) rs777244382
NM_001271208.2(NEB):c.1187C>T (p.Ala396Val) rs369957704
NM_001271208.2(NEB):c.11884A>C (p.Lys3962Gln)
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+1G>A rs774495973
NM_001271208.2(NEB):c.11910+3A>G
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+1G>A rs762278237
NM_001271208.2(NEB):c.12045A>G (p.Lys4015=) rs949086164
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) rs1576715880
NM_001271208.2(NEB):c.1211C>T (p.Thr404Ile) rs200585609
NM_001271208.2(NEB):c.12147G>A (p.Lys4049=) rs149639365
NM_001271208.2(NEB):c.12160del (p.Trp4054fs) rs1319778592
NM_001271208.2(NEB):c.12176C>G (p.Ser4059Cys) rs1475951452
NM_001271208.2(NEB):c.12182del (p.Pro4061fs)
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.1225C>T (p.Leu409Phe) rs373883986
NM_001271208.2(NEB):c.12279G>A (p.Pro4093=) rs367638234
NM_001271208.2(NEB):c.12288C>A (p.Asn4096Lys)
NM_001271208.2(NEB):c.12288C>T (p.Asn4096=) rs755521679
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.12303A>C (p.Ala4101=) rs1553882764
NM_001271208.2(NEB):c.1230T>C (p.Asp410=) rs78892743
NM_001271208.2(NEB):c.12316G>A (p.Asp4106Asn) rs192843524
NM_001271208.2(NEB):c.12331-5T>C rs1171513278
NM_001271208.2(NEB):c.12342G>A (p.Lys4114=) rs1215819197
NM_001271208.2(NEB):c.12358C>T (p.Leu4120=) rs1579062340
NM_001271208.2(NEB):c.12369C>G (p.Ile4123Met) rs1277282343
NM_001271208.2(NEB):c.12369C>T (p.Ile4123=) 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.12426C>T (p.Leu4142=) rs1320574868
NM_001271208.2(NEB):c.12433G>T (p.Glu4145Ter)
NM_001271208.2(NEB):c.12443A>G (p.Tyr4148Cys) rs1553877721
NM_001271208.2(NEB):c.12457G>T (p.Glu4153Ter)
NM_001271208.2(NEB):c.12474C>T (p.Thr4158=) rs1579059705
NM_001271208.2(NEB):c.12483C>T (p.Val4161=) rs876657539
NM_001271208.2(NEB):c.12490C>T (p.Pro4164Ser) rs1553877565
NM_001271208.2(NEB):c.12492A>C (p.Pro4164=) rs1462106212
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.12555del (p.Ala4184_Trp4185insTer)
NM_001271208.2(NEB):c.1258-2A>G rs1553608621
NM_001271208.2(NEB):c.1258-7C>G rs371265681
NM_001271208.2(NEB):c.1258-9G>T rs779907080
NM_001271208.2(NEB):c.12591T>C (p.Asp4197=) rs1553876898
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.12612C>T (p.Ala4204=) rs1579048112
NM_001271208.2(NEB):c.12615C>T (p.His4205=) rs1579048021
NM_001271208.2(NEB):c.12636C>T (p.Ser4212=) rs1553876762
NM_001271208.2(NEB):c.12639+1G>A
NM_001271208.2(NEB):c.12640-10C>T rs1264692800
NM_001271208.2(NEB):c.12640-4A>G rs549888246
NM_001271208.2(NEB):c.12640-6C>T rs1579019126
NM_001271208.2(NEB):c.12648C>G (p.Tyr4216Ter)
NM_001271208.2(NEB):c.12662A>G (p.Asn4221Ser) rs1553875590
NM_001271208.2(NEB):c.12666C>T (p.Asp4222=) rs1310326732
NM_001271208.2(NEB):c.1267A>G (p.Lys423Glu)
NM_001271208.2(NEB):c.12684T>G (p.Tyr4228Ter) rs1553875421
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.12717C>T (p.His4239=) rs1553875334
NM_001271208.2(NEB):c.12720C>T (p.Ala4240=) rs1579015882
NM_001271208.2(NEB):c.12723G>A (p.Lys4241=) rs772682280
NM_001271208.2(NEB):c.12733G>T (p.Glu4245Ter)
NM_001271208.2(NEB):c.12738del (p.Ile4246fs)
NM_001271208.2(NEB):c.12747+4C>T
NM_001271208.2(NEB):c.12747+5G>A rs1251007091
NM_001271208.2(NEB):c.12748-10A>G rs1553872572
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.12873G>A (p.Lys4291=) rs1578940609
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.12912G>A (p.Pro4304=) rs886038430
NM_001271208.2(NEB):c.12922A>G (p.Met4308Val) rs1553871982
NM_001271208.2(NEB):c.12933T>C (p.Val4311=) rs1578938742
NM_001271208.2(NEB):c.12963C>T (p.Ser4321=) rs1286358276
NM_001271208.2(NEB):c.12966C>T (p.Asp4322=) rs1334385911
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.12991C>T (p.Gln4331Ter)
NM_001271208.2(NEB):c.12999G>A (p.Thr4333=) rs1384738774
NM_001271208.2(NEB):c.12C>T (p.Asp4=) rs117178114
NM_001271208.2(NEB):c.13017C>T (p.Asn4339=) rs1165436206
NM_001271208.2(NEB):c.13018G>A (p.Asp4340Asn) rs1462818722
NM_001271208.2(NEB):c.13044C>T (p.Tyr4348=) rs1167279039
NM_001271208.2(NEB):c.13047C>T (p.Asp4349=) rs886038431
NM_001271208.2(NEB):c.13048C>T (p.Leu4350=) rs1578935610
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.13056C>T (p.Ser4352=) rs1468240932
NM_001271208.2(NEB):c.13059+4C>T rs1253831275
NM_001271208.2(NEB):c.13060-2A>G
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.13101A>G (p.Gly4367=) rs1442619838
NM_001271208.2(NEB):c.1310G>A (p.Ser437Asn) rs1466400136
NM_001271208.2(NEB):c.13128G>A (p.Val4376=) rs760864074
NM_001271208.2(NEB):c.1312T>G (p.Phe438Val)
NM_001271208.2(NEB):c.13132A>G (p.Arg4378Gly) rs1189557869
NM_001271208.2(NEB):c.13147C>T (p.Gln4383Ter) rs1212374733
NM_001271208.2(NEB):c.13175G>A (p.Arg4392His) rs772352938
NM_001271208.2(NEB):c.13185T>C (p.Pro4395=) rs1344892267
NM_001271208.2(NEB):c.13204A>G (p.Ser4402Gly) rs1475846023
NM_001271208.2(NEB):c.13218C>G (p.Thr4406=) rs1553867144
NM_001271208.2(NEB):c.13221G>A (p.Pro4407=) rs1240952464
NM_001271208.2(NEB):c.13248T>C (p.Ala4416=) rs1553866979
NM_001271208.2(NEB):c.13251A>C (p.Val4417=) rs1246456851
NM_001271208.2(NEB):c.13263+8C>T rs1553866957
NM_001271208.2(NEB):c.13264-9T>C rs1578874426
NM_001271208.2(NEB):c.13308C>T (p.Asn4436=) rs1553865962
NM_001271208.2(NEB):c.13317T>C (p.Ala4439=) rs1578873204
NM_001271208.2(NEB):c.13327C>T (p.Leu4443=) rs1578872999
NM_001271208.2(NEB):c.1333C>T (p.His445Tyr)
NM_001271208.2(NEB):c.1333del (p.His445fs) rs1576704575
NM_001271208.2(NEB):c.13349_13353delinsGTGCT (p.Asn4450Ser) rs1553865895
NM_001271208.2(NEB):c.13350_13353delinsCGCT (p.Asn4450_Ala4451=) rs1578872605
NM_001271208.2(NEB):c.13362C>T (p.Ile4454=) rs1553865873
NM_001271208.2(NEB):c.13368+10_13368+11inv
NM_001271208.2(NEB):c.13368+11A>G rs112260335
NM_001271208.2(NEB):c.13368+6A>G rs886038433
NM_001271208.2(NEB):c.13369-14CT[2] rs1553865749
NM_001271208.2(NEB):c.13369-6_13372delinsGGCATT
NM_001271208.2(NEB):c.13369-9T>C rs1553865725
NM_001271208.2(NEB):c.13370A>C (p.Lys4457Thr) rs1057521174
NM_001271208.2(NEB):c.13386T>G (p.Ala4462=) rs1578869691
NM_001271208.2(NEB):c.13406C>T (p.Thr4469Ile) rs1192545815
NM_001271208.2(NEB):c.13420C>A (p.Arg4474=) rs1578869371
NM_001271208.2(NEB):c.13420C>T (p.Arg4474Ter)
NM_001271208.2(NEB):c.13428T>C (p.Asp4476=) rs1578869264
NM_001271208.2(NEB):c.13441C>T (p.Gln4481Ter)
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.13476+1G>A rs1578868550
NM_001271208.2(NEB):c.13476+7G>A rs1553865548
NM_001271208.2(NEB):c.13480C>T (p.Leu4494=) rs1462287804
NM_001271208.2(NEB):c.1350A>G (p.Thr450=) rs774227589
NM_001271208.2(NEB):c.13520T>C (p.Ile4507Thr) rs1553862732
NM_001271208.2(NEB):c.13525del (p.Cys4509fs)
NM_001271208.2(NEB):c.13533C>T (p.Ser4511=) rs1168966918
NM_001271208.2(NEB):c.13534G>A (p.Ala4512Thr) rs886038435
NM_001271208.2(NEB):c.13537A>T (p.Lys4513Ter)
NM_001271208.2(NEB):c.13548T>G (p.Pro4516=) rs1578803539
NM_001271208.2(NEB):c.13614C>T (p.Asn4538=) rs1250752053
NM_001271208.2(NEB):c.13626C>G (p.Ala4542=) rs201225445
NM_001271208.2(NEB):c.1365+5G>T rs1553607969
NM_001271208.2(NEB):c.13651G>A (p.Val4551Met) rs1553862399
NM_001271208.2(NEB):c.13653G>A (p.Val4551=) rs1553862349
NM_001271208.2(NEB):c.1366-7_1366-5del rs1317027054
NM_001271208.2(NEB):c.13661G>A (p.Ser4554Asn) rs1057522021
NM_001271208.2(NEB):c.13662C>T (p.Ser4554=) rs1553862322
NM_001271208.2(NEB):c.13680G>C (p.Gln4560His) rs886038439
NM_001271208.2(NEB):c.13704T>A (p.Tyr4568Ter) rs1553862274
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.13737C>T (p.Pro4579=) rs1578801445
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.13756C>T (p.Gln4586Ter) rs1560283028
NM_001271208.2(NEB):c.13773C>A (p.Tyr4591Ter) rs1553862114
NM_001271208.2(NEB):c.13773C>T (p.Tyr4591=) rs1553862114
NM_001271208.2(NEB):c.13779A>G (p.Leu4593=) rs1057522591
NM_001271208.2(NEB):c.13780C>T (p.Gln4594Ter)
NM_001271208.2(NEB):c.13785C>T (p.Ser4595=) rs1578800572
NM_001271208.2(NEB):c.13788+1G>A rs1553862061
NM_001271208.2(NEB):c.13788+1G>C
NM_001271208.2(NEB):c.1386C>T (p.Tyr462=) rs376911383
NM_001271208.2(NEB):c.1395C>T (p.Asp465=) rs759268469
NM_001271208.2(NEB):c.1413C>T (p.Phe471=) rs112958786
NM_001271208.2(NEB):c.1423A>G (p.Ile475Val)
NM_001271208.2(NEB):c.1431A>G (p.Gln477=) rs372236577
NM_001271208.2(NEB):c.144C>T (p.Ser48=) rs373652428
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.1529_1533del (p.Val510fs)
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.153_167dup (p.52_56LAQPA[3]) rs757726895
NM_001271208.2(NEB):c.154_168CTGGCACAGCCAGCA[1] (p.52_56LAQPA[1]) rs377452683
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.1558C>T (p.Gln520Ter)
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.1614T>C (p.His538=) rs769074908
NM_001271208.2(NEB):c.1618C>G (p.Pro540Ala) rs1271816542
NM_001271208.2(NEB):c.1620C>T (p.Pro540=) rs776014034
NM_001271208.2(NEB):c.1621C>G (p.Pro541Ala) rs1324280943
NM_001271208.2(NEB):c.1623del (p.Asp542fs) rs772366030
NM_001271208.2(NEB):c.1648A>G (p.Lys550Glu) rs756920047
NM_001271208.2(NEB):c.1654A>G (p.Asn552Asp)
NM_001271208.2(NEB):c.1674+1G>A rs750585238
NM_001271208.2(NEB):c.1674+3A>C
NM_001271208.2(NEB):c.1674T>C (p.Asp558=) rs376597690
NM_001271208.2(NEB):c.1675-4C>G rs369915027
NM_001271208.2(NEB):c.1675-8_1675-7del rs749876066
NM_001271208.2(NEB):c.1675-9T>C rs75118047
NM_001271208.2(NEB):c.1675-9T>G rs75118047
NM_001271208.2(NEB):c.16762T>A (p.Ser5588Thr) rs35227368
NM_001271208.2(NEB):c.1676del (p.Asn559fs) rs1576600442
NM_001271208.2(NEB):c.16788C>T (p.Asn5596=) rs186902443
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.16875C>T (p.Val5625=) rs757882235
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.16983C>T (p.Leu5661=) rs377481097
NM_001271208.2(NEB):c.16984G>A (p.Ala5662Thr)
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.17049G>T (p.Ala5683=) rs140688592
NM_001271208.2(NEB):c.17061C>G (p.Val5687=) rs199756204
NM_001271208.2(NEB):c.17078C>T (p.Pro5693Leu)
NM_001271208.2(NEB):c.17114G>A (p.Ser5705Asn) rs1179251845
NM_001271208.2(NEB):c.17118+1G>A
NM_001271208.2(NEB):c.17118+8G>A rs767062620
NM_001271208.2(NEB):c.17118C>A (p.Asp5706Glu)
NM_001271208.2(NEB):c.17118C>T (p.Asp5706=) rs769476760
NM_001271208.2(NEB):c.17127T>C (p.Tyr5709=) rs775004844
NM_001271208.2(NEB):c.17129A>G (p.Lys5710Arg) rs200501968
NM_001271208.2(NEB):c.1713A>G (p.Lys571=) rs753119399
NM_001271208.2(NEB):c.17156A>T (p.His5719Leu) rs776095941
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.17196_17200del (p.Ile5732fs) rs1578011278
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.17274C>T (p.Ile5758=) rs372754098
NM_001271208.2(NEB):c.17297C>T (p.Ser5766Phe)
NM_001271208.2(NEB):c.1729G>A (p.Val577Met) rs1419317928
NM_001271208.2(NEB):c.17304G>A (p.Leu5768=) rs35273905
NM_001271208.2(NEB):c.17325T>C (p.Ala5775=) rs375534633
NM_001271208.2(NEB):c.17341G>C (p.Asp5781His) rs897368602
NM_001271208.2(NEB):c.17347C>T (p.Arg5783Cys) rs1037281077
NM_001271208.2(NEB):c.17355C>T (p.Tyr5785=) rs1578007148
NM_001271208.2(NEB):c.1735G>T (p.Ala579Ser) rs758068422
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>A (p.Tyr5805Ter) rs555516831
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.17479C>T (p.Pro5827Ser) rs1560050173
NM_001271208.2(NEB):c.17491G>A (p.Val5831Met) rs772168965
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) 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.17574G>A (p.Thr5858=) rs780714195
NM_001271208.2(NEB):c.17601G>A (p.Val5867=) rs58263509
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.17628C>T (p.Leu5876=) rs377183242
NM_001271208.2(NEB):c.17635-15dup rs3214503
NM_001271208.2(NEB):c.17635-3del rs3214503
NM_001271208.2(NEB):c.17645G>A (p.Arg5882Gln) rs558345996
NM_001271208.2(NEB):c.17653_17654del (p.Trp5885fs)
NM_001271208.2(NEB):c.17677A>G (p.Thr5893Ala) rs762095177
NM_001271208.2(NEB):c.17681T>A (p.Leu5894His)
NM_001271208.2(NEB):c.17681T>C (p.Leu5894Pro) rs201072996
NM_001271208.2(NEB):c.17695dup (p.Leu5899fs)
NM_001271208.2(NEB):c.17728C>T (p.Leu5910=) rs756046096
NM_001271208.2(NEB):c.17734del (p.Gln5912fs)
NM_001271208.2(NEB):c.17747A>G (p.Lys5916Arg) rs73967567
NM_001271208.2(NEB):c.17781del (p.Gly5926_Tyr5927insTer)
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.17828del (p.Asn5943fs) rs1560031341
NM_001271208.2(NEB):c.17832C>T (p.Asp5944=) rs544453966
NM_001271208.2(NEB):c.17838G>A (p.Gln5946=) rs376199241
NM_001271208.2(NEB):c.17844+7C>T rs373259828
NM_001271208.2(NEB):c.17845-1G>A rs1371849916
NM_001271208.2(NEB):c.17845-2A>T
NM_001271208.2(NEB):c.17845-5G>A rs373390654
NM_001271208.2(NEB):c.17845-6C>T rs376370460
NM_001271208.2(NEB):c.17862A>G (p.Glu5954=) rs565162006
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.17896C>G (p.Pro5966Ala)
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.17938G>A (p.Ala5980Thr) rs1267739726
NM_001271208.2(NEB):c.17953_18472-56del
NM_001271208.2(NEB):c.17965T>A (p.Tyr5989Asn) rs752113075
NM_001271208.2(NEB):c.17980C>G (p.His5994Asp)
NM_001271208.2(NEB):c.17986del (p.Thr5996fs) rs1577890764
NM_001271208.2(NEB):c.18008C>G (p.Pro6003Arg)
NM_001271208.2(NEB):c.1800C>T (p.Asp600=) rs532710372
NM_001271208.2(NEB):c.18037A>C (p.Lys6013Gln)
NM_001271208.2(NEB):c.18064A>G (p.Ile6022Val) rs574746662
NM_001271208.2(NEB):c.18074G>A (p.Arg6025His) rs751957350
NM_001271208.2(NEB):c.18096G>A (p.Met6032Ile)
NM_001271208.2(NEB):c.18113A>G (p.Asn6038Ser) rs16830236
NM_001271208.2(NEB):c.18115G>A (p.Asp6039Asn) rs377076154
NM_001271208.2(NEB):c.18122T>C (p.Ile6041Thr)
NM_001271208.2(NEB):c.18124C>T (p.Gln6042Ter) rs1577886635
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.18144C>T (p.Asp6048=) rs1319860549
NM_001271208.2(NEB):c.18152G>A (p.Ser6051Asn) rs1577885822
NM_001271208.2(NEB):c.18153T>C (p.Ser6051=) rs1381905125
NM_001271208.2(NEB):c.18211del (p.Asp6071fs)
NM_001271208.2(NEB):c.18224A>C (p.His6075Pro) rs768813228
NM_001271208.2(NEB):c.18255G>A (p.Met6085Ile)
NM_001271208.2(NEB):c.18261+1G>T rs112544116
NM_001271208.2(NEB):c.18261+4C>G
NM_001271208.2(NEB):c.18261+5G>A
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.18342G>A (p.Lys6114=) rs565998554
NM_001271208.2(NEB):c.18366+9G>A rs759834773
NM_001271208.2(NEB):c.18367-1_18370del rs1553770146
NM_001271208.2(NEB):c.18374A>G (p.Tyr6125Cys)
NM_001271208.2(NEB):c.18398A>G (p.Lys6133Arg) rs199594449
NM_001271208.2(NEB):c.1839C>T (p.Ser613=) rs751976783
NM_001271208.2(NEB):c.18410C>T (p.Thr6137Met) rs201462794
NM_001271208.2(NEB):c.18411G>A (p.Thr6137=) rs767659024
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.18464A>C (p.Tyr6155Ser) rs201971223
NM_001271208.2(NEB):c.18472-4C>G rs756954250
NM_001271208.2(NEB):c.18488C>T (p.Ala6163Val) rs201529683
NM_001271208.2(NEB):c.18489G>A (p.Ala6163=) rs371669095
NM_001271208.2(NEB):c.18496G>A (p.Gly6166Ser) rs1239862833
NM_001271208.2(NEB):c.18519C>T (p.Thr6173=) rs745448583
NM_001271208.2(NEB):c.18530G>A (p.Arg6177His) rs147159176
NM_001271208.2(NEB):c.18531C>T (p.Arg6177=) rs541088387
NM_001271208.2(NEB):c.18542T>C (p.Ile6181Thr) rs764500250
NM_001271208.2(NEB):c.18555G>A (p.Lys6185=) rs145252235
NM_001271208.2(NEB):c.18567G>A (p.Leu6189=) rs773819516
NM_001271208.2(NEB):c.1856A>G (p.Lys619Arg) rs147305883
NM_001271208.2(NEB):c.18579+6T>C rs116189169
NM_001271208.2(NEB):c.18596C>T (p.Thr6199Ile) rs1331648772
NM_001271208.2(NEB):c.18622C>G (p.Leu6208Val) rs374727099
NM_001271208.2(NEB):c.18646T>C (p.Phe6216Leu) rs202211102
NM_001271208.2(NEB):c.18653G>A (p.Gly6218Asp) rs34471889
NM_001271208.2(NEB):c.18656T>G (p.Val6219Gly)
NM_001271208.2(NEB):c.18676C>T (p.Gln6226Ter) rs1475648900
NM_001271208.2(NEB):c.18692C>T (p.Ala6231Val) rs375357016
NM_001271208.2(NEB):c.18693G>C (p.Ala6231=) rs141338915
NM_001271208.2(NEB):c.18694-12dup rs753417927
NM_001271208.2(NEB):c.18694-3T>C rs370200484
NM_001271208.2(NEB):c.18694-6_18694-2del rs1377029367
NM_001271208.2(NEB):c.18694-7A>T rs373371474
NM_001271208.2(NEB):c.18696_18697insSVAelement
NM_001271208.2(NEB):c.18709C>G (p.His6237Asp)
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.18762C>T (p.His6254=) rs748339284
NM_001271208.2(NEB):c.18763G>A (p.Val6255Met)
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) rs372804439
NM_001271208.2(NEB):c.18830C>T (p.Thr6277Met) rs371689870
NM_001271208.2(NEB):c.18831G>A (p.Thr6277=) rs368876425
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.18861C>T (p.Arg6287=) rs146294986
NM_001271208.2(NEB):c.18862G>A (p.Val6288Ile) rs201886728
NM_001271208.2(NEB):c.18865C>T (p.Arg6289Ter) rs539819851
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.1896+7T>A rs1553600682
NM_001271208.2(NEB):c.1896T>A (p.Asp632Glu) rs978952705
NM_001271208.2(NEB):c.1897-1G>A rs1553593177
NM_001271208.2(NEB):c.18996+2T>C rs1577636079
NM_001271208.2(NEB):c.18997-10T>C rs4544436
NM_001271208.2(NEB):c.18997-10T>G rs4544436
NM_001271208.2(NEB):c.1899A>T (p.Arg633Ser) rs77826191
NM_001271208.2(NEB):c.19056G>T (p.Thr6352=) rs115631125
NM_001271208.2(NEB):c.19082G>A (p.Ser6361Asn) rs768390701
NM_001271208.2(NEB):c.19097G>A (p.Ser6366Asn)
NM_001271208.2(NEB):c.19102-6C>T rs145127681
NM_001271208.2(NEB):c.19121A>G (p.Tyr6374Cys)
NM_001271208.2(NEB):c.19139A>G (p.Lys6380Arg)
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.19284C>T (p.His6428=) rs201005449
NM_001271208.2(NEB):c.19285G>A (p.Ala6429Thr) rs149752325
NM_001271208.2(NEB):c.19285_19286delinsAA (p.Ala6429Asn) rs796065338
NM_001271208.2(NEB):c.19286C>A (p.Ala6429Asp) rs139636644
NM_001271208.2(NEB):c.19295A>G (p.Gln6432Arg) rs189912759
NM_001271208.2(NEB):c.192G>A (p.Lys64=) rs761189437
NM_001271208.2(NEB):c.19301A>C (p.His6434Pro) rs1577553776
NM_001271208.2(NEB):c.19311C>T (p.Ser6437=) rs16830216
NM_001271208.2(NEB):c.19313A>G (p.His6438Arg)
NM_001271208.2(NEB):c.19315-10T>C rs201473873
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.19377C>T (p.Asp6459=) rs187211085
NM_001271208.2(NEB):c.19378G>A (p.Asp6460Asn)
NM_001271208.2(NEB):c.19386G>A (p.Pro6462=) rs199835469
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.19428+9G>A rs770023245
NM_001271208.2(NEB):c.19428T>C (p.Asp6476=) rs1390912272
NM_001271208.2(NEB):c.19429-7T>C rs561767644
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.19476C>T (p.Ile6492=) rs113068669
NM_001271208.2(NEB):c.19477G>A (p.Val6493Met) rs1233717326
NM_001271208.2(NEB):c.19482C>T (p.Pro6494=) rs200333206
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.19506C>T (p.Ala6502=) rs1011926091
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.1954A>G (p.Thr652Ala)
NM_001271208.2(NEB):c.19550G>A (p.Arg6517His) rs149596493
NM_001271208.2(NEB):c.19557C>T (p.His6519=) rs371785128
NM_001271208.2(NEB):c.19575C>T (p.Pro6525=) rs1361349634
NM_001271208.2(NEB):c.1957C>T (p.Pro653Ser) rs759215923
NM_001271208.2(NEB):c.195G>A (p.Pro65=) rs79524813
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.19665T>C (p.Ile6555=) rs150842230
NM_001271208.2(NEB):c.19674C>T (p.Tyr6558=) rs201515651
NM_001271208.2(NEB):c.19675G>A (p.Val6559Ile) rs189232206
NM_001271208.2(NEB):c.19704C>T (p.Ala6568=) rs760335435
NM_001271208.2(NEB):c.19711_19714del (p.Ala6571fs) rs1577244250
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.19732-6C>T rs11894996
NM_001271208.2(NEB):c.19732-8C>T rs137934821
NM_001271208.2(NEB):c.19746T>C (p.Ala6582=) rs143456239
NM_001271208.2(NEB):c.1974T>C (p.Asp658=) rs199528953
NM_001271208.2(NEB):c.19751T>G (p.Met6584Arg) rs190605644
NM_001271208.2(NEB):c.19788T>C (p.Asp6596=) rs974199168
NM_001271208.2(NEB):c.19800C>T (p.Tyr6600=) rs552379239
NM_001271208.2(NEB):c.19801G>A (p.Val6601Met) rs553079055
NM_001271208.2(NEB):c.19803G>A (p.Val6601=) rs374957115
NM_001271208.2(NEB):c.19814A>G (p.Lys6605Arg)
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.19836+10C>G rs148814261
NM_001271208.2(NEB):c.19836C>T (p.Asp6612=) rs371194689
NM_001271208.2(NEB):c.19851T>A (p.Tyr6617Ter)
NM_001271208.2(NEB):c.19865G>A (p.Ser6622Asn) rs144168709
NM_001271208.2(NEB):c.19899C>T (p.Thr6633=) rs370742146
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.19929C>G (p.Tyr6643Ter)
NM_001271208.2(NEB):c.19939A>G (p.Ser6647Gly) rs1559830688
NM_001271208.2(NEB):c.19944+3G>A rs115142419
NM_001271208.2(NEB):c.19944+7A>G rs201751179
NM_001271208.2(NEB):c.19944G>A (p.Ser6648=) rs201553266
NM_001271208.2(NEB):c.19959C>T (p.Thr6653=) rs758068690
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.20019C>T (p.His6673=) rs374881368
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.20078C>T (p.Thr6693Ile) rs35707762
NM_001271208.2(NEB):c.20089G>A (p.Gly6697Arg) rs201071685
NM_001271208.2(NEB):c.20098C>A (p.Leu6700Ile) rs202139330
NM_001271208.2(NEB):c.20099T>C (p.Leu6700Pro) rs560109089
NM_001271208.2(NEB):c.20106C>T (p.Pro6702=) rs1553717815
NM_001271208.2(NEB):c.20127C>T (p.His6709=) rs368328496
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.20158-5C>T rs376869270
NM_001271208.2(NEB):c.20162T>C (p.Leu6721Pro) rs111517514
NM_001271208.2(NEB):c.20192A>T (p.Asp6731Val) rs2288200
NM_001271208.2(NEB):c.20199C>T (p.Ile6733=) rs1322022679
NM_001271208.2(NEB):c.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.20263-15dup rs763008896
NM_001271208.2(NEB):c.20263-7del rs763008896
NM_001271208.2(NEB):c.20281_20282dup (p.Phe6762fs)
NM_001271208.2(NEB):c.20315C>T (p.Pro6772Leu) rs1559782362
NM_001271208.2(NEB):c.20316A>T (p.Pro6772=) rs772552779
NM_001271208.2(NEB):c.20332A>G (p.Ile6778Val) rs753409626
NM_001271208.2(NEB):c.20343C>T (p.Arg6781=) rs1455500980
NM_001271208.2(NEB):c.20346T>C (p.Tyr6782=) rs767355230
NM_001271208.2(NEB):c.20355C>T (p.Asp6785=) rs140323673
NM_001271208.2(NEB):c.20359A>G (p.Thr6787Ala)
NM_001271208.2(NEB):c.20360C>T (p.Thr6787Ile)
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.20446C>G (p.Arg6816Gly) rs780644697
NM_001271208.2(NEB):c.20454G>C (p.Leu6818=) rs374662309
NM_001271208.2(NEB):c.20466+5G>C
NM_001271208.2(NEB):c.20466+7G>A rs201684605
NM_001271208.2(NEB):c.20467-3dup rs765107380
NM_001271208.2(NEB):c.20467-4T>A rs199791504
NM_001271208.2(NEB):c.20467-4_20467-3insTA rs1553708977
NM_001271208.2(NEB):c.20467-5T>A rs762368980
NM_001271208.2(NEB):c.2049C>G (p.Gly683=) rs372609682
NM_001271208.2(NEB):c.20503C>T (p.Arg6835Ter) rs370098540
NM_001271208.2(NEB):c.20504G>A (p.Arg6835Gln)
NM_001271208.2(NEB):c.20577+6G>A rs775513148
NM_001271208.2(NEB):c.20598C>G (p.Gly6866=) rs16830192
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.20633del (p.Asp6878fs)
NM_001271208.2(NEB):c.20654C>T (p.Ala6885Val) rs202209668
NM_001271208.2(NEB):c.2065dup (p.Tyr689fs) rs1576517390
NM_001271208.2(NEB):c.20671C>T (p.Leu6891Phe) rs182866658
NM_001271208.2(NEB):c.20682+1G>A rs1576819152
NM_001271208.2(NEB):c.20682+9A>C rs1576818801
NM_001271208.2(NEB):c.20721T>A (p.His6907Gln)
NM_001271208.2(NEB):c.20727C>T (p.His6909=) rs779779886
NM_001271208.2(NEB):c.20728G>A (p.Ala6910Thr) rs750152377
NM_001271208.2(NEB):c.20765A>T (p.Asp6922Val)
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.20834C>T (p.Pro6945Leu)
NM_001271208.2(NEB):c.20835G>A (p.Pro6945=) rs186244044
NM_001271208.2(NEB):c.20845dup (p.Thr6949fs) rs1553695209
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.20933A>G (p.Tyr6978Cys) rs761780939
NM_001271208.2(NEB):c.20940G>A (p.Thr6980=) rs369611234
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.20946A>G (p.Lys6982=) rs371201870
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.21027G>A (p.Gln7009=) rs758282270
NM_001271208.2(NEB):c.21028T>C (p.Leu7010=) rs750374820
NM_001271208.2(NEB):c.2103T>C (p.Ser701=) rs535236430
NM_001271208.2(NEB):c.21044C>G (p.Ser7015Cys) rs62167164
NM_001271208.2(NEB):c.21052del (p.Asp7018fs) rs1576695735
NM_001271208.2(NEB):c.21056G>A (p.Arg7019His)
NM_001271208.2(NEB):c.2107-8C>T rs369441230
NM_001271208.2(NEB):c.21076C>T (p.Arg7026Ter) rs769345284
NM_001271208.2(NEB):c.21102T>C (p.Asp7034=) rs531711771
NM_001271208.2(NEB):c.21155A>G (p.Tyr7052Cys)
NM_001271208.2(NEB):c.21162C>T (p.Thr7054=) rs766718173
NM_001271208.2(NEB):c.21173C>T (p.Thr7058Ile) rs200523155
NM_001271208.2(NEB):c.21194_21195CT[2] (p.Tyr7067fs)
NM_001271208.2(NEB):c.21196C>A (p.Leu7066Ile) rs1428589113
NM_001271208.2(NEB):c.21207+8T>C rs1553686509
NM_001271208.2(NEB):c.21212A>G (p.Lys7071Arg)
NM_001271208.2(NEB):c.2122G>A (p.Glu708Lys) rs1553587676
NM_001271208.2(NEB):c.21266C>G (p.Ser7089Cys) rs774297352
NM_001271208.2(NEB):c.21268C>G (p.Pro7090Ala) rs371704528
NM_001271208.2(NEB):c.21270G>T (p.Pro7090=) rs368887173
NM_001271208.2(NEB):c.21276T>C (p.Asn7092=) rs780045200
NM_001271208.2(NEB):c.21300A>G (p.Gln7100=) rs1050612430
NM_001271208.2(NEB):c.21312+5G>A rs778363526
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.21396C>T (p.Thr7132=) rs759637718
NM_001271208.2(NEB):c.21397G>T (p.Ala7133Ser) rs988993094
NM_001271208.2(NEB):c.21402C>T (p.Gly7134=)
NM_001271208.2(NEB):c.21418-9C>T rs1576549807
NM_001271208.2(NEB):c.21423del (p.Lys7141fs)
NM_001271208.2(NEB):c.21426T>C (p.Tyr7142=) rs372326115
NM_001271208.2(NEB):c.21437C>G (p.Ala7146Gly)
NM_001271208.2(NEB):c.21442A>G (p.Met7148Val) rs750039342
NM_001271208.2(NEB):c.21476G>A (p.Arg7159His) rs201094791
NM_001271208.2(NEB):c.21487T>C (p.Leu7163=) rs114218081
NM_001271208.2(NEB):c.214A>G (p.Ile72Val) rs1553698165
NM_001271208.2(NEB):c.21511A>T (p.Met7171Leu) rs886038447
NM_001271208.2(NEB):c.21522+3A>G rs148950085
NM_001271208.2(NEB):c.21523-9A>G rs1553669362
NM_001271208.2(NEB):c.21524T>C (p.Ile7175Thr) rs200112795
NM_001271208.2(NEB):c.21531C>A (p.Tyr7177Ter)
NM_001271208.2(NEB):c.2155C>T (p.Pro719Ser) rs376503299
NM_001271208.2(NEB):c.21574G>T (p.Val7192Leu) rs1576490497
NM_001271208.2(NEB):c.21595C>A (p.Arg7199Ser)
NM_001271208.2(NEB):c.21596G>A (p.Arg7199His) rs16830171
NM_001271208.2(NEB):c.21596G>C (p.Arg7199Pro)
NM_001271208.2(NEB):c.21609del (p.Asn7204fs) rs934955715
NM_001271208.2(NEB):c.21618A>C (p.Gln7206His) rs542149432
NM_001271208.2(NEB):c.21624C>T (p.Ser7208=) rs16830170
NM_001271208.2(NEB):c.21627T>C (p.Asp7209=) rs185169373
NM_001271208.2(NEB):c.2162C>T (p.Thr721Ile)
NM_001271208.2(NEB):c.21630C>T (p.Ile7210=) rs369183371
NM_001271208.2(NEB):c.21651C>T (p.Asn7217=) rs149510427
NM_001271208.2(NEB):c.21669C>A (p.Gly7223=) rs775887037
NM_001271208.2(NEB):c.21684C>T (p.His7228=) rs372877088
NM_001271208.2(NEB):c.21689_21690inv (p.Thr7230Met)
NM_001271208.2(NEB):c.21709C>T (p.Arg7237Cys)
NM_001271208.2(NEB):c.21736-7C>T rs374513817
NM_001271208.2(NEB):c.21736-8T>C rs1394610862
NM_001271208.2(NEB):c.21769T>A (p.Ser7257Thr) rs191722579
NM_001271208.2(NEB):c.21778A>T (p.Thr7260Ser) rs187977960
NM_001271208.2(NEB):c.21790G>C (p.Asp7264His) rs201979610
NM_001271208.2(NEB):c.21794C>T (p.Ala7265Val) rs368315910
NM_001271208.2(NEB):c.217C>T (p.Arg73Trp) rs77994592
NM_001271208.2(NEB):c.21816_21817dup (p.Asp7273fs) rs1559580467
NM_001271208.2(NEB):c.21825C>T (p.Tyr7275=) rs34718443
NM_001271208.2(NEB):c.21840T>C (p.Asn7280=) rs568248647
NM_001271208.2(NEB):c.21841-2A>G rs1389892619
NM_001271208.2(NEB):c.21856C>G (p.Gln7286Glu) rs373946758
NM_001271208.2(NEB):c.21862G>A (p.Glu7288Lys) rs745791097
NM_001271208.2(NEB):c.21866C>A (p.Ala7289Asp)
NM_001271208.2(NEB):c.21870C>T (p.Asn7290=) rs180903156
NM_001271208.2(NEB):c.21902C>T (p.Pro7301Leu) rs367626762
NM_001271208.2(NEB):c.21943G>A (p.Asp7315Asn) rs200945025
NM_001271208.2(NEB):c.21946-6T>A rs767466501
NM_001271208.2(NEB):c.21961G>A (p.Asp7321Asn) rs35625617
NM_001271208.2(NEB):c.21964C>G (p.Arg7322Gly) rs376072545
NM_001271208.2(NEB):c.21966G>A (p.Arg7322=) rs372808358
NM_001271208.2(NEB):c.21967G>C (p.Glu7323Gln) rs768693028
NM_001271208.2(NEB):c.21968A>G (p.Glu7323Gly) rs747282707
NM_001271208.2(NEB):c.21980G>A (p.Gly7327Asp)
NM_001271208.2(NEB):c.2200C>T (p.Gln734Ter)
NM_001271208.2(NEB):c.22011C>T (p.Asn7337=) rs757845188
NM_001271208.2(NEB):c.22021G>A (p.Ala7341Thr) rs1289511955
NM_001271208.2(NEB):c.22068A>G (p.Lys7356=) rs61730765
NM_001271208.2(NEB):c.22074C>T (p.Val7358=) rs554809115
NM_001271208.2(NEB):c.22075A>C (p.Lys7359Gln) rs756646859
NM_001271208.2(NEB):c.22081A>C (p.Arg7361=) rs780790042
NM_001271208.2(NEB):c.22099G>A (p.Val7367Ile) rs189609282
NM_001271208.2(NEB):c.22109C>T (p.Thr7370Met) rs767584361
NM_001271208.2(NEB):c.2211+5G>A rs797045736
NM_001271208.2(NEB):c.22110G>A (p.Thr7370=) rs201400523
NM_001271208.2(NEB):c.22112C>T (p.Pro7371Leu) rs1559547106
NM_001271208.2(NEB):c.22128G>A (p.Ala7376=) rs533246582
NM_001271208.2(NEB):c.22147G>A (p.Val7383Met) rs200918570
NM_001271208.2(NEB):c.2215A>G (p.Thr739Ala) rs754959175
NM_001271208.2(NEB):c.22196G>A (p.Gly7399Asp)
NM_001271208.2(NEB):c.22209A>T (p.Thr7403=) rs756011050
NM_001271208.2(NEB):c.22213C>G (p.Pro7405Ala) rs200304547
NM_001271208.2(NEB):c.22215A>G (p.Pro7405=) rs539800267
NM_001271208.2(NEB):c.22219A>C (p.Thr7407Pro)
NM_001271208.2(NEB):c.22227C>G (p.Asp7409Glu) rs192402741
NM_001271208.2(NEB):c.22229C>T (p.Thr7410Ile) rs1195608964
NM_001271208.2(NEB):c.22236C>G (p.His7412Gln)
NM_001271208.2(NEB):c.22237G>A (p.Val7413Ile)
NM_001271208.2(NEB):c.22257T>C (p.His7419=) rs771582884
NM_001271208.2(NEB):c.22275C>G (p.Tyr7425Ter) rs748922882
NM_001271208.2(NEB):c.22278A>T (p.Lys7426Asn)
NM_001271208.2(NEB):c.22288G>A (p.Val7430Ile) rs1396168176
NM_001271208.2(NEB):c.22292A>G (p.Lys7431Arg) rs201548700
NM_001271208.2(NEB):c.22299A>G (p.Lys7433=) rs1232660353
NM_001271208.2(NEB):c.22338G>C (p.Glu7446Asp) rs1576243073
NM_001271208.2(NEB):c.2234A>G (p.Asp745Gly)
NM_001271208.2(NEB):c.22361_22362delinsG (p.Ala7454fs) rs1559534672
NM_001271208.2(NEB):c.22369C>A (p.Gln7457Lys) rs369642754
NM_001271208.2(NEB):c.22377+7T>C rs762551492
NM_001271208.2(NEB):c.22378-10C>T rs781520817
NM_001271208.2(NEB):c.22378G>T (p.Val7460Phe)
NM_001271208.2(NEB):c.22417_22420dup (p.Thr7474fs)
NM_001271208.2(NEB):c.22433G>C (p.Arg7478Pro)
NM_001271208.2(NEB):c.22454C>T (p.Thr7485Ile)
NM_001271208.2(NEB):c.22475G>C (p.Ser7492Thr) rs142454476
NM_001271208.2(NEB):c.22479+6G>A rs749050869
NM_001271208.2(NEB):c.22479+7G>A rs750007608
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.22517A>G (p.His7506Arg) rs1553641474
NM_001271208.2(NEB):c.22523dup (p.Leu7508fs)
NM_001271208.2(NEB):c.22533C>T (p.Leu7511=) rs371431256
NM_001271208.2(NEB):c.22537C>T (p.Arg7513Cys) rs202050860
NM_001271208.2(NEB):c.22538G>A (p.Arg7513His) rs767207985
NM_001271208.2(NEB):c.22546A>G (p.Ile7516Val) rs374581669
NM_001271208.2(NEB):c.22609A>G (p.Lys7537Glu)
NM_001271208.2(NEB):c.22616del (p.Lys7539fs)
NM_001271208.2(NEB):c.22640C>T (p.Pro7547Leu)
NM_001271208.2(NEB):c.22653G>A (p.Gln7551=) rs200776925
NM_001271208.2(NEB):c.22660A>G (p.Lys7554Glu)
NM_001271208.2(NEB):c.22695+2T>C rs200449517
NM_001271208.2(NEB):c.22696-1G>C rs757157808
NM_001271208.2(NEB):c.22734C>T (p.Pro7578=) rs373263895
NM_001271208.2(NEB):c.22743C>T (p.Asp7581=) rs372279388
NM_001271208.2(NEB):c.22746del (p.Met7582fs) rs1057515573
NM_001271208.2(NEB):c.22747A>G (p.Lys7583Glu) rs201976154
NM_001271208.2(NEB):c.22750G>T (p.Glu7584Ter)
NM_001271208.2(NEB):c.22752G>A (p.Glu7584=) rs201688876
NM_001271208.2(NEB):c.22768C>T (p.His7590Tyr) rs746454129
NM_001271208.2(NEB):c.22781C>T (p.Thr7594Ile)
NM_001271208.2(NEB):c.22795A>G (p.Ser7599Gly) rs749222946
NM_001271208.2(NEB):c.22801-10T>C rs1212927796
NM_001271208.2(NEB):c.2283C>T (p.Ala761=) rs373946448
NM_001271208.2(NEB):c.22855G>A (p.Asp7619Asn)
NM_001271208.2(NEB):c.22879A>C (p.Lys7627Gln)
NM_001271208.2(NEB):c.22881dup (p.Glu7628fs)
NM_001271208.2(NEB):c.22897C>T (p.Gln7633Ter) rs752267876
NM_001271208.2(NEB):c.22905+9A>G rs144303545
NM_001271208.2(NEB):c.22936C>T (p.Arg7646Ter)
NM_001271208.2(NEB):c.22955A>G (p.Asp7652Gly) rs776739582
NM_001271208.2(NEB):c.22983C>A (p.Ala7661=) rs185574478
NM_001271208.2(NEB):c.22995G>A (p.Gln7665=) rs765598242
NM_001271208.2(NEB):c.23009G>A (p.Gly7670Glu) rs3732309
NM_001271208.2(NEB):c.23010+7C>T rs1426040506
NM_001271208.2(NEB):c.23011-6C>T rs1449487575
NM_001271208.2(NEB):c.23089C>T (p.His7697Tyr) rs373852098
NM_001271208.2(NEB):c.23091T>C (p.His7697=) rs149606244
NM_001271208.2(NEB):c.23118C>T (p.Ser7706=) rs370873040
NM_001271208.2(NEB):c.23122-3T>C rs111314898
NM_001271208.2(NEB):c.23136A>G (p.Lys7712=) rs968522988
NM_001271208.2(NEB):c.23155C>T (p.Arg7719Cys)
NM_001271208.2(NEB):c.23156G>A (p.Arg7719His)
NM_001271208.2(NEB):c.23159G>A (p.Gly7720Glu)
NM_001271208.2(NEB):c.23160G>A (p.Gly7720=) rs563896790
NM_001271208.2(NEB):c.2318A>G (p.Tyr773Cys) rs77151072
NM_001271208.2(NEB):c.23232+2T>C rs112610938
NM_001271208.2(NEB):c.23233-5T>C rs1349957816
NM_001271208.2(NEB):c.23246G>A (p.Arg7749Gln) rs200963111
NM_001271208.2(NEB):c.23254G>C (p.Glu7752Gln) rs766321668
NM_001271208.2(NEB):c.23273G>A (p.Arg7758Lys) rs947053462
NM_001271208.2(NEB):c.23294A>G (p.Asn7765Ser)
NM_001271208.2(NEB):c.23303C>T (p.Pro7768Leu)
NM_001271208.2(NEB):c.23338G>T (p.Ala7780Ser)
NM_001271208.2(NEB):c.23372T>C (p.Met7791Thr) rs201767727
NM_001271208.2(NEB):c.23383A>G (p.Asn7795Asp) rs201189784
NM_001271208.2(NEB):c.23420A>G (p.His7807Arg)
NM_001271208.2(NEB):c.23425_23427CAA[1] (p.Gln7810del) rs1553614214
NM_001271208.2(NEB):c.2343G>A (p.Lys781=) rs191610670
NM_001271208.2(NEB):c.23443T>A (p.Ser7815Thr) rs1553614160
NM_001271208.2(NEB):c.23446A>G (p.Ser7816Gly)
NM_001271208.2(NEB):c.23451+5G>A
NM_001271208.2(NEB):c.23455A>G (p.Lys7819Glu)
NM_001271208.2(NEB):c.23464G>A (p.Glu7822Lys)
NM_001271208.2(NEB):c.23482A>C (p.Met7828Leu) rs199957886
NM_001271208.2(NEB):c.23483T>C (p.Met7828Thr) rs536677256
NM_001271208.2(NEB):c.23486C>T (p.Ser7829Leu) rs41270201
NM_001271208.2(NEB):c.23487G>A (p.Ser7829=) rs770713773
NM_001271208.2(NEB):c.23510C>A (p.Thr7837Asn)
NM_001271208.2(NEB):c.23521C>G (p.Gln7841Glu)
NM_001271208.2(NEB):c.23523G>T (p.Gln7841His) rs765789028
NM_001271208.2(NEB):c.23530C>T (p.Arg7844Trp) rs762220487
NM_001271208.2(NEB):c.2353C>A (p.His785Asn)
NM_001271208.2(NEB):c.23556+1G>T rs1011425121
NM_001271208.2(NEB):c.23582A>G (p.Asn7861Ser) rs143602832
NM_001271208.2(NEB):c.23600C>T (p.Thr7867Ile) rs34368668
NM_001271208.2(NEB):c.23615C>T (p.Thr7872Met) rs370108917
NM_001271208.2(NEB):c.23616G>A (p.Thr7872=) rs35808744
NM_001271208.2(NEB):c.23619A>G (p.Pro7873=) rs1575473569
NM_001271208.2(NEB):c.23629C>T (p.Arg7877Cys) rs184516994
NM_001271208.2(NEB):c.23630G>A (p.Arg7877His)
NM_001271208.2(NEB):c.23660C>T (p.Ser7887Leu) rs200454939
NM_001271208.2(NEB):c.23662-3C>G rs374499643
NM_001271208.2(NEB):c.2366A>G (p.Asp789Gly) rs201498216
NM_001271208.2(NEB):c.23700C>T (p.Ile7900=) rs370825760
NM_001271208.2(NEB):c.23701G>A (p.Gly7901Arg) rs1480807112
NM_001271208.2(NEB):c.23704A>C (p.Lys7902Gln) rs118191309
NM_001271208.2(NEB):c.23714A>T (p.Glu7905Val) rs1454960791
NM_001271208.2(NEB):c.23731C>T (p.Gln7911Ter) rs537560378
NM_001271208.2(NEB):c.23742C>G (p.Asp7914Glu)
NM_001271208.2(NEB):c.23753C>T (p.Ser7918Leu) rs202191938
NM_001271208.2(NEB):c.23754+10_23754+11del rs772001300
NM_001271208.2(NEB):c.23755-7_23755-6delinsAT rs1575422447
NM_001271208.2(NEB):c.23808A>G (p.Glu7936=) rs779612457
NM_001271208.2(NEB):c.23815C>T (p.Arg7939Cys)
NM_001271208.2(NEB):c.2382C>T (p.Ile794=) rs532547534
NM_001271208.2(NEB):c.23847+2T>C rs545937015
NM_001271208.2(NEB):c.23847+8C>T rs1575419282
NM_001271208.2(NEB):c.23847+9C>T rs762973833
NM_001271208.2(NEB):c.23859_23864dup (p.Lys7953_Glu7954dup)
NM_001271208.2(NEB):c.23868G>C (p.Leu7956Phe) rs201028196
NM_001271208.2(NEB):c.23870G>C (p.Gly7957Ala)
NM_001271208.2(NEB):c.23875G>A (p.Gly7959Ser) rs369602540
NM_001271208.2(NEB):c.23878A>G (p.Ile7960Val)
NM_001271208.2(NEB):c.23881C>T (p.Pro7961Ser) rs193224180
NM_001271208.2(NEB):c.23894C>A (p.Thr7965Asn)
NM_001271208.2(NEB):c.23908A>G (p.Arg7970Gly)
NM_001271208.2(NEB):c.23910A>G (p.Arg7970=) rs1481356421
NM_001271208.2(NEB):c.23917C>T (p.Arg7973Cys)
NM_001271208.2(NEB):c.2391A>G (p.Arg797=) rs1031672649
NM_001271208.2(NEB):c.23934T>C (p.Phe7978=) rs1575331983
NM_001271208.2(NEB):c.23945T>G (p.Leu7982Trp) rs200559481
NM_001271208.2(NEB):c.23953_23956dup (p.Asn7986fs) rs1559296376
NM_001271208.2(NEB):c.23998G>C (p.Glu8000Gln)
NM_001271208.2(NEB):c.24010C>T (p.Arg8004Cys) rs201419564
NM_001271208.2(NEB):c.24031T>A (p.Ser8011Thr)
NM_001271208.2(NEB):c.24032C>T (p.Ser8011Leu) rs202137113
NM_001271208.2(NEB):c.24033+4T>C rs768465696
NM_001271208.2(NEB):c.24042C>G (p.Tyr8014Ter) rs779173742
NM_001271208.2(NEB):c.24062G>C (p.Gly8021Ala)
NM_001271208.2(NEB):c.24072_24075del (p.Pro8025fs) rs756384471
NM_001271208.2(NEB):c.24072dup (p.Pro8025fs)
NM_001271208.2(NEB):c.24091G>A (p.Glu8031Lys) rs1202510810
NM_001271208.2(NEB):c.24094C>T (p.Arg8032Ter) rs549794342
NM_001271208.2(NEB):c.24125C>T (p.Ser8042Leu) rs763365852
NM_001271208.2(NEB):c.24126+8G>A rs1361035933
NM_001271208.2(NEB):c.24129_24133dup (p.Tyr8045fs) rs772009599
NM_001271208.2(NEB):c.24146T>C (p.Val8049Ala) rs200269437
NM_001271208.2(NEB):c.24149G>A (p.Gly8050Glu)
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.24161C>T (p.Pro8054Leu) rs189655274
NM_001271208.2(NEB):c.24163A>G (p.Ile8055Val) rs144634228
NM_001271208.2(NEB):c.24187A>G (p.Arg8063Gly)
NM_001271208.2(NEB):c.24200A>G (p.Asn8067Ser) rs946188918
NM_001271208.2(NEB):c.24201T>G (p.Asn8067Lys) rs770023115
NM_001271208.2(NEB):c.24213T>C (p.Phe8071=) rs748169663
NM_001271208.2(NEB):c.24219+1G>A rs755239192
NM_001271208.2(NEB):c.24219G>T (p.Ser8073=)
NM_001271208.2(NEB):c.24220G>T (p.Val8074Leu)
NM_001271208.2(NEB):c.24248del (p.Gly8083fs) rs1553556154
NM_001271208.2(NEB):c.24263T>C (p.Ile8088Thr)
NM_001271208.2(NEB):c.24276G>T (p.Met8092Ile) rs758996758
NM_001271208.2(NEB):c.24277C>T (p.Gln8093Ter) rs1323364980
NM_001271208.2(NEB):c.24278_24279AG[2] (p.Arg8094fs) rs1266535163
NM_001271208.2(NEB):c.24282A>G (p.Arg8094=) rs1030563077
NM_001271208.2(NEB):c.24294_24297dup (p.Glu8100fs) rs1553555882
NM_001271208.2(NEB):c.24312G>A (p.Ser8104=) rs763193315
NM_001271208.2(NEB):c.24313-10T>C rs1061322
NM_001271208.2(NEB):c.24313-7C>T rs113048349
NM_001271208.2(NEB):c.24314_24317dup (p.Leu8106fs) rs781667543
NM_001271208.2(NEB):c.24315_24317dup (p.Leu8106dup) rs781667543
NM_001271208.2(NEB):c.24316_24317dup (p.Leu8106fs) rs1553552384
NM_001271208.2(NEB):c.2432A>T (p.Asp811Val)
NM_001271208.2(NEB):c.24369G>A (p.Met8123Ile) rs144709880
NM_001271208.2(NEB):c.24372_24375del (p.Arg8125fs) rs747564597
NM_001271208.2(NEB):c.2437G>A (p.Glu813Lys) rs752442261
NM_001271208.2(NEB):c.24380A>G (p.Lys8127Arg)
NM_001271208.2(NEB):c.24398T>C (p.Ile8133Thr) rs372228043
NM_001271208.2(NEB):c.24398_24400dup (p.Ile8133dup) rs780724946
NM_001271208.2(NEB):c.24404C>T (p.Ser8135Leu) rs759261311
NM_001271208.2(NEB):c.24405G>C (p.Ser8135=) rs541126160
NM_001271208.2(NEB):c.24406-7C>T rs755582434
NM_001271208.2(NEB):c.24407_24410dup (p.Leu8137fs) rs1344099907
NM_001271208.2(NEB):c.24408_24410dup (p.Leu8137dup) rs1344099907
NM_001271208.2(NEB):c.24411A>C (p.Leu8137Phe) rs1217235799
NM_001271208.2(NEB):c.24434_24437dup (p.Pro8147fs) rs1574981296
NM_001271208.2(NEB):c.24444_24447del (p.Pro8149fs) rs934111355
NM_001271208.2(NEB):c.24450C>T (p.Val8150=) rs922674535
NM_001271208.2(NEB):c.24455C>T (p.Pro8152Leu) rs541150975
NM_001271208.2(NEB):c.24463G>A (p.Glu8155Lys)
NM_001271208.2(NEB):c.24464_24465AG[2] (p.Arg8156fs) rs752582527
NM_001271208.2(NEB):c.24487A>G (p.Asn8163Asp) rs960735572
NM_001271208.2(NEB):c.24498+1G>A rs775631800
NM_001271208.2(NEB):c.24498G>A (p.Ser8166=)
NM_001271208.2(NEB):c.24500_24503dup (p.Leu8168fs) rs762133567
NM_001271208.2(NEB):c.24502_24503dup (p.Leu8168fs)
NM_001271208.2(NEB):c.24507C>G (p.Tyr8169Ter)
NM_001271208.2(NEB):c.24558G>A (p.Glu8186=) rs372540293
NM_001271208.2(NEB):c.24558_24559delinsAA (p.Glu8186_Arg8187=) rs1574938607
NM_001271208.2(NEB):c.24559C>G (p.Arg8187Gly)
NM_001271208.2(NEB):c.24559C>T (p.Arg8187Ter) rs763364977
NM_001271208.2(NEB):c.24590C>T (p.Ser8197Leu)
NM_001271208.2(NEB):c.24591+10G>A rs755064162
NM_001271208.2(NEB):c.24591+9C>A rs763870394
NM_001271208.2(NEB):c.24613G>A (p.Gly8205Arg) rs1553537770
NM_001271208.2(NEB):c.24614G>A (p.Gly8205Glu) rs398124169
NM_001271208.2(NEB):c.24624C>T (p.Thr8208=) rs748978197
NM_001271208.2(NEB):c.24625G>A (p.Ala8209Thr) rs199937246
NM_001271208.2(NEB):c.24632_24633del (p.Pro8211fs) rs555445835
NM_001271208.2(NEB):c.24650_24651AG[2] (p.Arg8218fs) rs755863625
NM_001271208.2(NEB):c.24659_24660dup (p.Arg8221fs) rs1553537512
NM_001271208.2(NEB):c.24662G>A (p.Arg8221His) rs759962661
NM_001271208.2(NEB):c.24675C>T (p.Asn8225=) rs201566336
NM_001271208.2(NEB):c.24684G>A (p.Ser8228=) rs202048855
NM_001271208.2(NEB):c.24684G>C (p.Ser8228=) rs202048855
NM_001271208.2(NEB):c.24685-1G>C rs1574772311
NM_001271208.2(NEB):c.24693C>G (p.Tyr8231Ter) rs754272530
NM_001271208.2(NEB):c.24720C>T (p.Pro8240=) rs371270146
NM_001271208.2(NEB):c.2472_2638-455del
NM_001271208.2(NEB):c.24741G>A (p.Met8247Ile)
NM_001271208.2(NEB):c.24750G>A (p.Val8250=) rs769610035
NM_001271208.2(NEB):c.24755G>A (p.Arg8252His) rs201291446
NM_001271208.2(NEB):c.2475C>T (p.Asp825=) rs180881237
NM_001271208.2(NEB):c.24771del (p.Phe8257fs) rs794727136
NM_001271208.2(NEB):c.24776C>T (p.Ser8259Leu) rs746031384
NM_001271208.2(NEB):c.24778-1G>A rs1574741105
NM_001271208.2(NEB):c.24812C>T (p.Pro8271Leu) rs571935637
NM_001271208.2(NEB):c.24815C>T (p.Thr8272Ile) rs369083039
NM_001271208.2(NEB):c.24815_24836del (p.Thr8272fs) rs761067911
NM_001271208.2(NEB):c.24834G>A (p.Met8278Ile)
NM_001271208.2(NEB):c.24836_24837AG[2] (p.Arg8280fs) rs776059611
NM_001271208.2(NEB):c.24838A>G (p.Arg8280Gly)
NM_001271208.2(NEB):c.24843T>C (p.Ala8281=) rs1057524338
NM_001271208.2(NEB):c.24847C>T (p.Arg8283Cys) rs748561855
NM_001271208.2(NEB):c.2485C>G (p.Leu829Val)
NM_001271208.2(NEB):c.24862A>G (p.Ile8288Val) rs551649582
NM_001271208.2(NEB):c.24870+8C>T rs374935839
NM_001271208.2(NEB):c.24917C>T (p.Ala8306Val) rs749977606
NM_001271208.2(NEB):c.24925T>C (p.Leu8309=) rs372203426
NM_001271208.2(NEB):c.24946C>T (p.Arg8316Trp)
NM_001271208.2(NEB):c.24947G>A (p.Arg8316Gln)
NM_001271208.2(NEB):c.24964C>T (p.Arg8322Trp)
NM_001271208.2(NEB):c.24978G>A (p.Thr8326=) rs779321695
NM_001271208.2(NEB):c.24979-8C>T rs200902944
NM_001271208.2(NEB):c.249C>T (p.Thr83=) rs200936927
NM_001271208.2(NEB):c.25002G>C (p.Glu8334Asp) rs202145313
NM_001271208.2(NEB):c.25012G>C (p.Gly8338Arg)
NM_001271208.2(NEB):c.25014T>C (p.Gly8338=) rs754365974
NM_001271208.2(NEB):c.25054G>A (p.Val8352Ile)
NM_001271208.2(NEB):c.25101_25104delinsATTCAA (p.Gln8368fs) rs1553526832
NM_001271208.2(NEB):c.2510A>G (p.Lys837Arg) rs189623595
NM_001271208.2(NEB):c.25110A>G (p.Lys8370=) rs996538018
NM_001271208.2(NEB):c.25112T>C (p.Val8371Ala) rs1574651626
NM_001271208.2(NEB):c.25115T>G (p.Val8372Gly)
NM_001271208.2(NEB):c.25140C>T (p.Asp8380=) rs201825451
NM_001271208.2(NEB):c.25143A>G (p.Gln8381=) rs184319249
NM_001271208.2(NEB):c.2515A>G (p.Thr839Ala)
NM_001271208.2(NEB):c.25160C>T (p.Thr8387Ile)
NM_001271208.2(NEB):c.25169G>A (p.Arg8390His) rs778972474
NM_001271208.2(NEB):c.25178G>A (p.Arg8393His) rs796797375
NM_001271208.2(NEB):c.25194G>A (p.Ser8398=) rs766453942
NM_001271208.2(NEB):c.25210C>G (p.Pro8404Ala)
NM_001271208.2(NEB):c.25212A>G (p.Pro8404=) rs763433145
NM_001271208.2(NEB):c.2523+2T>A
NM_001271208.2(NEB):c.2523+6T>C
NM_001271208.2(NEB):c.25235G>A (p.Arg8412Gln) rs369174368
NM_001271208.2(NEB):c.25241T>G (p.Leu8414Ter) rs760200697
NM_001271208.2(NEB):c.25255+3G>A
NM_001271208.2(NEB):c.25266G>A (p.Gln8422=) rs376897146
NM_001271208.2(NEB):c.25267C>T (p.Arg8423Cys) rs371600800
NM_001271208.2(NEB):c.25268G>A (p.Arg8423His) rs139333406
NM_001271208.2(NEB):c.25270C>T (p.Arg8424Trp) rs373551215
NM_001271208.2(NEB):c.25277G>A (p.Arg8426Gln) rs749034995
NM_001271208.2(NEB):c.25288C>T (p.Arg8430Ter) rs747179265
NM_001271208.2(NEB):c.25289G>A (p.Arg8430Gln) rs779983347
NM_001271208.2(NEB):c.25308_25309inv (p.Ile8437Val)
NM_001271208.2(NEB):c.25313G>A (p.Ser8438Asn)
NM_001271208.2(NEB):c.25319del (p.Gly8440fs) rs1553520266
NM_001271208.2(NEB):c.2533A>G (p.Lys845Glu) rs772154599
NM_001271208.2(NEB):c.25344A>G (p.Glu8448=) rs576696191
NM_001271208.2(NEB):c.25361T>C (p.Leu8454Pro) rs370819880
NM_001271208.2(NEB):c.25364C>A (p.Ser8455Ter)
NM_001271208.2(NEB):c.25374C>T (p.Ser8458=) rs776563539
NM_001271208.2(NEB):c.25394T>C (p.Val8465Ala) rs151338614
NM_001271208.2(NEB):c.25403-11_25403-10del rs1553519312
NM_001271208.2(NEB):c.2540A>G (p.Asp847Gly) rs375894183
NM_001271208.2(NEB):c.25441C>T (p.Arg8481Ter) rs200731870
NM_001271208.2(NEB):c.25464A>C (p.Gln8488His) rs377748897
NM_001271208.2(NEB):c.25472C>T (p.Thr8491Met) rs78592085
NM_001271208.2(NEB):c.25473G>A (p.Thr8491=) rs200083849
NM_001271208.2(NEB):c.25500T>G (p.Ser8500=) rs13031275
NM_001271208.2(NEB):c.25510-7C>T rs372113031
NM_001271208.2(NEB):c.25520G>A (p.Arg8507His)
NM_001271208.2(NEB):c.25534_25535insG (p.Tyr8512Ter) rs1242654062
NM_001271208.2(NEB):c.25568A>G (p.Lys8523Arg) rs201714437
NM_001271208.2(NEB):c.25575A>G (p.Gly8525=) rs778502509
NM_001271208.2(NEB):c.25603G>A (p.Asp8535Asn) rs1574251962
NM_001271208.2(NEB):c.25629G>A (p.Val8543=) rs1574250751
NM_001271208.2(NEB):c.25639G>A (p.Gly8547Ser)
NM_001271208.2(NEB):c.25647C>T (p.Thr8549=) rs3821324
NM_001271208.2(NEB):c.25660G>A (p.Ala8554Thr) rs775823432
NM_001271208.2(NEB):c.25669G>A (p.Val8557Ile) rs117861109
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.2589C>T (p.Asp863=) rs370176216
NM_001271208.2(NEB):c.2593C>T (p.Pro865Ser)
NM_001271208.2(NEB):c.2603T>C (p.Leu868Pro) rs143123053
NM_001271208.2(NEB):c.2604G>T (p.Leu868=) rs201698008
NM_001271208.2(NEB):c.2607C>T (p.His869=) rs1576361832
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.2640C>T (p.Arg880=) rs114959904
NM_001271208.2(NEB):c.2647C>T (p.Arg883Ter)
NM_001271208.2(NEB):c.2648G>A (p.Arg883Gln)
NM_001271208.2(NEB):c.2739C>T (p.Ser913=) rs185674525
NM_001271208.2(NEB):c.2742C>T (p.Asp914=) rs766761991
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.2781C>G (p.Pro927=) rs745481666
NM_001271208.2(NEB):c.2784del (p.Asp929fs) rs786204430
NM_001271208.2(NEB):c.2832C>T (p.Ser944=) rs114076205
NM_001271208.2(NEB):c.2833G>T (p.Asp945Tyr)
NM_001271208.2(NEB):c.2909A>T (p.Glu970Val)
NM_001271208.2(NEB):c.2920C>T (p.Arg974Ter) rs1553548666
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.294+2T>C rs773952935
NM_001271208.2(NEB):c.2943+1G>A rs113091511
NM_001271208.2(NEB):c.2943+3dup
NM_001271208.2(NEB):c.2943G>A (p.Glu981=) rs398124170
NM_001271208.2(NEB):c.295-8C>T rs767768026
NM_001271208.2(NEB):c.2968A>G (p.Thr990Ala)
NM_001271208.2(NEB):c.2979T>C (p.Phe993=) rs780408206
NM_001271208.2(NEB):c.2985G>A (p.Ser995=) rs574544074
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.3024C>T (p.Asn1008=) rs1273538969
NM_001271208.2(NEB):c.3042+1G>A
NM_001271208.2(NEB):c.3042+3_3042+6del
NM_001271208.2(NEB):c.3043-1G>A rs113326313
NM_001271208.2(NEB):c.3105C>T (p.Pro1035=) rs778589014
NM_001271208.2(NEB):c.3127_3129dup (p.Asn1043dup) rs1288870299
NM_001271208.2(NEB):c.3131C>G (p.Ala1044Gly)
NM_001271208.2(NEB):c.3147+5G>A rs74859201
NM_001271208.2(NEB):c.3147+9G>A rs751551042
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.3184A>G (p.Lys1062Glu) rs192117840
NM_001271208.2(NEB):c.3191A>G (p.Tyr1064Cys) rs187343008
NM_001271208.2(NEB):c.3203C>T (p.Thr1068Ile) rs769233880
NM_001271208.2(NEB):c.322A>G (p.Thr108Ala) rs544069233
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.3246G>A (p.Ala1082=) rs372664114
NM_001271208.2(NEB):c.3248C>T (p.Ala1083Val) rs532130242
NM_001271208.2(NEB):c.3255+1G>A rs375628303
NM_001271208.2(NEB):c.3255+1G>T rs375628303
NM_001271208.2(NEB):c.3255+2dup rs1276026682
NM_001271208.2(NEB):c.3255C>T (p.Asp1085=) rs368625295
NM_001271208.2(NEB):c.3264_3265del (p.Tyr1088_Lys1089delinsTer)
NM_001271208.2(NEB):c.3270del (p.Asp1091fs)
NM_001271208.2(NEB):c.3348C>T (p.Asn1116=) rs149162847
NM_001271208.2(NEB):c.3349G>A (p.Val1117Met)
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.3384del (p.Asp1129fs)
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.3402G>A (p.Lys1134=) rs1376146835
NM_001271208.2(NEB):c.3412A>G (p.Asn1138Asp) rs117048449
NM_001271208.2(NEB):c.3416C>T (p.Thr1139Met) rs181244403
NM_001271208.2(NEB):c.3417G>T (p.Thr1139=) rs372593815
NM_001271208.2(NEB):c.3425A>T (p.Asp1142Val) rs370976402
NM_001271208.2(NEB):c.3438C>T (p.Val1146=) rs373118761
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.3468C>T (p.Val1156=) rs373258662
NM_001271208.2(NEB):c.3473_3488del (p.Asn1158fs)
NM_001271208.2(NEB):c.3491C>A (p.Ser1164Tyr) rs944276562
NM_001271208.2(NEB):c.3519C>T (p.Asp1173=) rs376512820
NM_001271208.2(NEB):c.3520G>A (p.Ala1174Thr) rs756135837
NM_001271208.2(NEB):c.3547A>G (p.Met1183Val)
NM_001271208.2(NEB):c.355A>G (p.Thr119Ala) rs182207224
NM_001271208.2(NEB):c.3567T>A (p.Asp1189Glu)
NM_001271208.2(NEB):c.3568-10A>G rs774345653
NM_001271208.2(NEB):c.3571G>A (p.Val1191Ile)
NM_001271208.2(NEB):c.3593A>G (p.Asn1198Ser) rs146616621
NM_001271208.2(NEB):c.36+1G>C
NM_001271208.2(NEB):c.36+9T>A rs754439228
NM_001271208.2(NEB):c.3623T>C (p.Ile1208Thr) rs201141958
NM_001271208.2(NEB):c.3634G>A (p.Asp1212Asn)
NM_001271208.2(NEB):c.3636C>T (p.Asp1212=) rs144376972
NM_001271208.2(NEB):c.3637G>A (p.Val1213Ile) rs202124287
NM_001271208.2(NEB):c.3639C>T (p.Val1213=) rs74320183
NM_001271208.2(NEB):c.3640G>A (p.Glu1214Lys)
NM_001271208.2(NEB):c.3658G>A (p.Gly1220Ser)
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.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.3759G>A (p.Thr1253=) rs763075598
NM_001271208.2(NEB):c.3774+4A>C
NM_001271208.2(NEB):c.3775-6T>C rs80232472
NM_001271208.2(NEB):c.3775-8T>C rs1470998589
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.3801T>C (p.Asp1267=) rs182725059
NM_001271208.2(NEB):c.3816C>T (p.Tyr1272=) rs765183358
NM_001271208.2(NEB):c.3826C>A (p.Pro1276Thr) rs34234609
NM_001271208.2(NEB):c.3858C>A (p.Cys1286Ter) rs1386238241
NM_001271208.2(NEB):c.3867C>T (p.Tyr1289=) rs1010944283
NM_001271208.2(NEB):c.3874A>G (p.Ser1292Gly) rs1553521537
NM_001271208.2(NEB):c.3879+1G>A rs746999970
NM_001271208.2(NEB):c.3879+2T>C
NM_001271208.2(NEB):c.3879+8G>A rs376511134
NM_001271208.2(NEB):c.3880-2A>G rs1342507012
NM_001271208.2(NEB):c.3901= (p.Tyr1301=) rs6711382
NM_001271208.2(NEB):c.3918G>A (p.Lys1306=) rs368682145
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.3987+1_3987+2delinsTG rs786204576
NM_001271208.2(NEB):c.3987T>C (p.Asp1329=)
NM_001271208.2(NEB):c.3989A>G (p.Tyr1330Cys) rs189553632
NM_001271208.2(NEB):c.402+4G>A
NM_001271208.2(NEB):c.4032G>T (p.Val1344=) rs373748794
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.4060A>G (p.Lys1354Glu) rs371454282
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.4116G>A (p.Lys1372=) rs202144520
NM_001271208.2(NEB):c.4119C>G (p.Asn1373Lys) rs377653217
NM_001271208.2(NEB):c.412C>T (p.Arg138Ter) rs1057517360
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.4197C>T (p.Val1399=) rs771328367
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.4206T>A (p.Asn1402Lys) rs201169452
NM_001271208.2(NEB):c.4218A>G (p.Lys1406=) rs754513702
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) rs973669056
NM_001271208.2(NEB):c.4244T>A (p.Leu1415Gln)
NM_001271208.2(NEB):c.4251C>T (p.Asp1417=) rs550832252
NM_001271208.2(NEB):c.426T>A (p.Asp142Glu) rs200590080
NM_001271208.2(NEB):c.426T>C (p.Asp142=) rs200590080
NM_001271208.2(NEB):c.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.4299+7A>G rs373926259
NM_001271208.2(NEB):c.4299+9G>A rs746505680
NM_001271208.2(NEB):c.4300-4A>G rs762231656
NM_001271208.2(NEB):c.4315G>A (p.Glu1439Lys)
NM_001271208.2(NEB):c.4326C>T (p.Ser1442=) rs1196827078
NM_001271208.2(NEB):c.4341C>T (p.Ile1447=) rs576286059
NM_001271208.2(NEB):c.4343G>C (p.Gly1448Ala)
NM_001271208.2(NEB):c.4350C>T (p.Ile1450=) rs1218846191
NM_001271208.2(NEB):c.4372G>A (p.Glu1458Lys) rs1559073472
NM_001271208.2(NEB):c.4392C>T (p.Gly1464=)
NM_001271208.2(NEB):c.4398A>G (p.Ala1466=) rs368136951
NM_001271208.2(NEB):c.43A>G (p.Thr15Ala)
NM_001271208.2(NEB):c.4407G>C (p.Glu1469Asp) rs34800215
NM_001271208.2(NEB):c.4417C>T (p.Arg1473Ter)
NM_001271208.2(NEB):c.441A>G (p.Ile147Met)
NM_001271208.2(NEB):c.4431T>C (p.Asp1477=) rs140558263
NM_001271208.2(NEB):c.4432A>G (p.Thr1478Ala)
NM_001271208.2(NEB):c.4463T>C (p.Met1488Thr) rs201545521
NM_001271208.2(NEB):c.4466G>A (p.Gly1489Asp) rs74482326
NM_001271208.2(NEB):c.4469T>C (p.Met1490Thr) rs554984749
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.4507-3del rs767772701
NM_001271208.2(NEB):c.4535_4536del (p.Leu1512fs)
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.4593C>T (p.Asn1531=) rs373328073
NM_001271208.2(NEB):c.4595C>A (p.Ala1532Asp) rs1456966310
NM_001271208.2(NEB):c.4596C>T (p.Ala1532=) rs1258108366
NM_001271208.2(NEB):c.4607G>A (p.Ser1536Asn) rs182143534
NM_001271208.2(NEB):c.4612G>C (p.Ala1538Pro) rs781263453
NM_001271208.2(NEB):c.4623del (p.Ala1542fs) rs1559039815
NM_001271208.2(NEB):c.4649A>G (p.Lys1550Arg) rs114089598
NM_001271208.2(NEB):c.4652G>A (p.Gly1551Asp)
NM_001271208.2(NEB):c.4652del (p.Gly1551fs) rs1553502168
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.469A>G (p.Ile157Val) rs188718613
NM_001271208.2(NEB):c.4736C>T (p.Ala1579Val)
NM_001271208.2(NEB):c.4740C>T (p.Tyr1580=) rs766168868
NM_001271208.2(NEB):c.4789C>T (p.Pro1597Ser)
NM_001271208.2(NEB):c.47A>T (p.Glu16Val) rs748679499
NM_001271208.2(NEB):c.4833T>C (p.Asp1611=) rs1413754733
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.4857A>G (p.Glu1619=) rs1313191028
NM_001271208.2(NEB):c.4878C>T (p.His1626=) rs774544008
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.492G>T (p.Ser164=) rs371015050
NM_001271208.2(NEB):c.4938C>T (p.Asn1646=) rs765208384
NM_001271208.2(NEB):c.4939G>A (p.Ala1647Thr)
NM_001271208.2(NEB):c.493C>T (p.Gln165Ter)
NM_001271208.2(NEB):c.4945_4947del (p.Tyr1649del) rs770192528
NM_001271208.2(NEB):c.496_499del (p.Gln166fs) rs1340063197
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.5024A>G (p.Gln1675Arg)
NM_001271208.2(NEB):c.5031+4T>C rs370999716
NM_001271208.2(NEB):c.5055C>A (p.Thr1685=) rs1575578013
NM_001271208.2(NEB):c.5073C>T (p.Ile1691=) rs190322907
NM_001271208.2(NEB):c.5074G>A (p.Gly1692Ser)
NM_001271208.2(NEB):c.508-6G>A rs374227241
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.5102T>C (p.Val1701Ala) rs117271684
NM_001271208.2(NEB):c.5120C>A (p.Ala1707Glu) rs1575576650
NM_001271208.2(NEB):c.5121A>G (p.Ala1707=) rs371962475
NM_001271208.2(NEB):c.5123G>A (p.Gly1708Glu)
NM_001271208.2(NEB):c.5132T>C (p.Leu1711Pro)
NM_001271208.2(NEB):c.5160C>T (p.Pro1720=) rs377168964
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.5245_5254del (p.Tyr1749fs)
NM_001271208.2(NEB):c.5247C>T (p.Tyr1749=) rs777520288
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.5364G>A (p.Trp1788Ter) rs201636991
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.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.5452-4A>G rs376623225
NM_001271208.2(NEB):c.5495T>C (p.Ile1832Thr) rs751494785
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.5567G>A (p.Arg1856Gln) rs141930814
NM_001271208.2(NEB):c.5574C>G (p.Tyr1858Ter) rs781185019
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.5628C>G (p.Leu1876=) rs771407375
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.5688G>T (p.Val1896=) rs766626019
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.5712T>C (p.Pro1904=) rs35946547
NM_001271208.2(NEB):c.5717C>T (p.Ala1906Val)
NM_001271208.2(NEB):c.5718C>T (p.Ala1906=) rs115379999
NM_001271208.2(NEB):c.571G>C (p.Glu191Gln) rs35686968
NM_001271208.2(NEB):c.5722del (p.Ser1908fs) rs1553484601
NM_001271208.2(NEB):c.5724C>T (p.Ser1908=) rs370965998
NM_001271208.2(NEB):c.5747T>C (p.Met1916Thr) rs142540692
NM_001271208.2(NEB):c.5761G>T (p.Asp1921Tyr)
NM_001271208.2(NEB):c.5763+4C>T rs78916288
NM_001271208.2(NEB):c.5768A>G (p.Gln1923Arg) rs755003638
NM_001271208.2(NEB):c.576T>C (p.Leu192=) rs755554259
NM_001271208.2(NEB):c.5772C>T (p.Tyr1924=) rs77547727
NM_001271208.2(NEB):c.5801G>A (p.Gly1934Asp) rs763717355
NM_001271208.2(NEB):c.5802C>T (p.Gly1934=) rs139963368
NM_001271208.2(NEB):c.5806G>A (p.Gly1936Arg)
NM_001271208.2(NEB):c.580C>T (p.Gln194Ter)
NM_001271208.2(NEB):c.5816C>T (p.Pro1939Leu)
NM_001271208.2(NEB):c.5827C>T (p.Leu1943=) rs773023806
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.585C>T (p.Ala195=) rs374538366
NM_001271208.2(NEB):c.5868T>C (p.Ser1956=) rs374717947
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.5925G>A (p.Ser1975=) rs1206630690
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.5967C>T (p.Asn1989=) rs371151246
NM_001271208.2(NEB):c.5968G>A (p.Glu1990Lys) rs146310692
NM_001271208.2(NEB):c.5970+7C>G rs975930519
NM_001271208.2(NEB):c.5977dup (p.Tyr1993fs)
NM_001271208.2(NEB):c.6020T>C (p.Met2007Thr) rs199862790
NM_001271208.2(NEB):c.6032C>T (p.Pro2011Leu)
NM_001271208.2(NEB):c.6033C>T (p.Pro2011=) rs773482640
NM_001271208.2(NEB):c.6043T>C (p.Leu2015=) rs748458556
NM_001271208.2(NEB):c.6046G>C (p.Ala2016Pro) rs1558927613
NM_001271208.2(NEB):c.6067A>G (p.Met2023Val) rs779481792
NM_001271208.2(NEB):c.6069G>A (p.Met2023Ile) rs184262608
NM_001271208.2(NEB):c.6076-1G>T rs1553469502
NM_001271208.2(NEB):c.6076-2A>C rs1553469514
NM_001271208.2(NEB):c.6076-2A>G rs1553469514
NM_001271208.2(NEB):c.6078del (p.Lys2026fs) rs1057516758
NM_001271208.2(NEB):c.6085A>C (p.Lys2029Gln) rs1387009037
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.60C>T (p.Tyr20=) rs768163455
NM_001271208.2(NEB):c.6108_6111AAAG[1] (p.Lys2038fs) rs1575358650
NM_001271208.2(NEB):c.6119A>G (p.Tyr2040Cys) rs756926807
NM_001271208.2(NEB):c.612+8T>C rs113095802
NM_001271208.2(NEB):c.613-1G>C rs767693366
NM_001271208.2(NEB):c.6145A>G (p.Ile2049Val) rs755853362
NM_001271208.2(NEB):c.6159G>A (p.Lys2053=) rs140186806
NM_001271208.2(NEB):c.6166A>G (p.Arg2056Gly) rs115350357
NM_001271208.2(NEB):c.6175G>A (p.Ala2059Thr) rs369215974
NM_001271208.2(NEB):c.6183+1G>A rs557870969
NM_001271208.2(NEB):c.61G>A (p.Glu21Lys) rs199907781
NM_001271208.2(NEB):c.6219G>A (p.Gly2073=) rs960591817
NM_001271208.2(NEB):c.6225G>T (p.Met2075Ile)
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.6291A>G (p.Gln2097=) rs753864118
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.633G>A (p.Trp211Ter)
NM_001271208.2(NEB):c.6341_6342AC[3] (p.Ala2117fs) rs1575295628
NM_001271208.2(NEB):c.6351C>T (p.Ala2117=) rs756476348
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.6385C>T (p.Gln2129Ter) rs80344795
NM_001271208.2(NEB):c.6388G>A (p.Ala2130Thr)
NM_001271208.2(NEB):c.6390C>T (p.Ala2130=) rs974601635
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.6435C>T (p.Ile2145=) rs375014703
NM_001271208.2(NEB):c.6449C>T (p.Ala2150Val) rs375256600
NM_001271208.2(NEB):c.6474T>C (p.Asn2158=) rs1191985703
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.6542G>A (p.Trp2181Ter)
NM_001271208.2(NEB):c.6554G>T (p.Gly2185Val)
NM_001271208.2(NEB):c.6591A>G (p.Glu2197=) rs1553462437
NM_001271208.2(NEB):c.6614G>A (p.Arg2205His)
NM_001271208.2(NEB):c.6615C>G (p.Arg2205=) rs200018782
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.6710del (p.Tyr2237fs)
NM_001271208.2(NEB):c.6717T>G (p.Ile2239Met) rs78733601
NM_001271208.2(NEB):c.6719A>G (p.Asp2240Gly) rs1362776689
NM_001271208.2(NEB):c.6732T>G (p.Asp2244Glu)
NM_001271208.2(NEB):c.6753del (p.Met2251fs)
NM_001271208.2(NEB):c.675G>A (p.Pro225=) rs138528093
NM_001271208.2(NEB):c.6807+10T>C rs375723456
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.6824del (p.Gly2275fs)
NM_001271208.2(NEB):c.6825A>T (p.Gly2275=) rs761057549
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.6876T>C (p.Ser2292=) rs1307944333
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.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.6993del (p.Val2332fs)
NM_001271208.2(NEB):c.6994G>C (p.Val2332Leu)
NM_001271208.2(NEB):c.6A>T (p.Ala2=) rs778187569
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.7123T>C (p.Leu2375=) rs373895191
NM_001271208.2(NEB):c.7126G>C (p.Val2376Leu) rs141155976
NM_001271208.2(NEB):c.7160A>G (p.Gln2387Arg)
NM_001271208.2(NEB):c.7167A>G (p.Thr2389=) rs768429146
NM_001271208.2(NEB):c.717+1G>A rs1577833924
NM_001271208.2(NEB):c.718-6C>T rs371791129
NM_001271208.2(NEB):c.7185C>T (p.Asn2395=) rs775336786
NM_001271208.2(NEB):c.71C>T (p.Pro24Leu) rs185496567
NM_001271208.2(NEB):c.7209T>A (p.Val2403=) rs778083630
NM_001271208.2(NEB):c.7228-1G>A rs1057516996
NM_001271208.2(NEB):c.724del (p.Tyr242fs) rs1577548638
NM_001271208.2(NEB):c.7252T>A (p.Trp2418Arg) rs780437384
NM_001271208.2(NEB):c.7253G>A (p.Trp2418Ter) rs1575122070
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>A (p.Arg2437Gln) rs61730780
NM_001271208.2(NEB):c.7310G>T (p.Arg2437Leu)
NM_001271208.2(NEB):c.7317G>A (p.Ser2439=) rs199977733
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.736del (p.Leu246fs)
NM_001271208.2(NEB):c.7374C>T (p.Ser2458=) rs1318587515
NM_001271208.2(NEB):c.7387A>T (p.Met2463Leu)
NM_001271208.2(NEB):c.738C>T (p.Leu246=) rs368500993
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.7473C>A (p.Ile2491=) rs760783298
NM_001271208.2(NEB):c.7473C>T (p.Ile2491=) rs760783298
NM_001271208.2(NEB):c.7487A>G (p.Asp2496Gly)
NM_001271208.2(NEB):c.7514C>A (p.Ala2505Glu) rs35292878
NM_001271208.2(NEB):c.7545C>T (p.Tyr2515=) rs776265168
NM_001271208.2(NEB):c.7549A>G (p.Met2517Val) rs577856870
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.762G>A (p.Thr254=) rs770784055
NM_001271208.2(NEB):c.7644A>G (p.Glu2548=) rs916950454
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.7677C>T (p.Leu2559=) rs371565168
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.7737T>C (p.His2579=) rs528614990
NM_001271208.2(NEB):c.7740G>A (p.Val2580=)
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.780A>G (p.Pro260=) rs80255720
NM_001271208.2(NEB):c.7831T>C (p.Leu2611=) rs772164378
NM_001271208.2(NEB):c.7854A>G (p.Leu2618=) rs370074798
NM_001271208.2(NEB):c.7860C>T (p.Ser2620=) rs753267809
NM_001271208.2(NEB):c.7861G>A (p.Asp2621Asn) rs781745506
NM_001271208.2(NEB):c.7863C>T (p.Asp2621=) rs1419803549
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.7884G>A (p.Leu2628=) rs1574938723
NM_001271208.2(NEB):c.7892G>A (p.Trp2631Ter)
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.7908C>T (p.Asp2636=) rs774348830
NM_001271208.2(NEB):c.7913_7914delinsAT (p.Ser2638Asn) rs1574937918
NM_001271208.2(NEB):c.7914C>T (p.Ser2638=) rs373353657
NM_001271208.2(NEB):c.7917T>C (p.Asp2639=) rs745410848
NM_001271208.2(NEB):c.7953C>T (p.Ser2651=) rs183764569
NM_001271208.2(NEB):c.795C>T (p.Ala265=) rs758702606
NM_001271208.2(NEB):c.7964A>G (p.Tyr2655Cys)
NM_001271208.2(NEB):c.7983G>T (p.Trp2661Cys)
NM_001271208.2(NEB):c.7984del (p.Trp2661_Leu2662insTer)
NM_001271208.2(NEB):c.7997del (p.Gly2666fs)
NM_001271208.2(NEB):c.8019C>T (p.Leu2673=) rs755883171
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.8031_8041del (p.Lys2677fs) rs398124172
NM_001271208.2(NEB):c.8039G>A (p.Arg2680Gln) rs201746137
NM_001271208.2(NEB):c.8063A>G (p.His2688Arg) rs201119402
NM_001271208.2(NEB):c.8071C>T (p.Arg2691Cys) rs202044707
NM_001271208.2(NEB):c.8072G>A (p.Arg2691His) rs35555631
NM_001271208.2(NEB):c.807C>A (p.Thr269=) rs1430006856
NM_001271208.2(NEB):c.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.8189A>G (p.Asp2730Gly) rs76767949
NM_001271208.2(NEB):c.8202C>T (p.Val2734=) rs144595998
NM_001271208.2(NEB):c.8203C>G (p.His2735Asp) rs759848500
NM_001271208.2(NEB):c.8219C>T (p.Thr2740Ile)
NM_001271208.2(NEB):c.822+1G>A
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.8318G>A (p.Arg2773Gln) rs35974308
NM_001271208.2(NEB):c.8319G>T (p.Arg2773=) rs746644593
NM_001271208.2(NEB):c.8326G>C (p.Ala2776Pro)
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.8341G>T (p.Ala2781Ser) rs1160244999
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.8406C>T (p.Leu2802=) rs377170982
NM_001271208.2(NEB):c.8425del (p.Arg2809fs) rs1574820458
NM_001271208.2(NEB):c.8458_8459del (p.Ser2820fs) rs776982138
NM_001271208.2(NEB):c.8466C>T (p.His2822=) rs61730771
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.8499G>A (p.Lys2833=) rs183998406
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.8553G>A (p.Gly2851=) rs200624735
NM_001271208.2(NEB):c.8554G>T (p.Val2852Leu)
NM_001271208.2(NEB):c.8592T>C (p.Asp2864=) rs61730772
NM_001271208.2(NEB):c.8598C>G (p.Asp2866Glu) rs1553966356
NM_001271208.2(NEB):c.8601C>T (p.Tyr2867=) rs1286220682
NM_001271208.2(NEB):c.8625A>G (p.Thr2875=) rs200386897
NM_001271208.2(NEB):c.8634C>T (p.Pro2878=) rs776571715
NM_001271208.2(NEB):c.8635G>A (p.Asp2879Asn)
NM_001271208.2(NEB):c.863A>G (p.Lys288Arg) rs202035863
NM_001271208.2(NEB):c.8643C>T (p.Ser2881=) rs150135749
NM_001271208.2(NEB):c.8644G>A (p.Asp2882Asn) rs200729207
NM_001271208.2(NEB):c.8646C>T (p.Asp2882=) rs61730773
NM_001271208.2(NEB):c.8647G>A (p.Val2883Ile) rs369283016
NM_001271208.2(NEB):c.8648T>C (p.Val2883Ala)
NM_001271208.2(NEB):c.8682C>T (p.Ser2894=) 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.8719G>A (p.Gly2907Ser) rs201707021
NM_001271208.2(NEB):c.8733_8734inv (p.Ser2912Pro)
NM_001271208.2(NEB):c.8738T>C (p.Ile2913Thr) rs368373064
NM_001271208.2(NEB):c.8775T>C (p.Thr2925=) rs761257246
NM_001271208.2(NEB):c.877C>T (p.Pro293Ser) rs200672688
NM_001271208.2(NEB):c.8789A>G (p.Asp2930Gly)
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.8890-6del rs771652505
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.9051C>T (p.Ser3017=) rs777722290
NM_001271208.2(NEB):c.9052G>A (p.Asp3018Asn) rs192098032
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.9071C>T (p.Ala3024Val) rs143933602
NM_001271208.2(NEB):c.9072G>A (p.Ala3024=) rs369897667
NM_001271208.2(NEB):c.9112A>G (p.Lys3038Glu) rs780293943
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.914A>G (p.Asp305Gly) rs36105240
NM_001271208.2(NEB):c.9154C>T (p.Arg3052Trp)
NM_001271208.2(NEB):c.9155G>A (p.Arg3052Gln) rs201176993
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.9196G>A (p.Val3066Ile)
NM_001271208.2(NEB):c.9217_9218del (p.Arg3073fs) rs1574526903
NM_001271208.2(NEB):c.927+10G>A rs1328277826
NM_001271208.2(NEB):c.927+7T>C rs746940000
NM_001271208.2(NEB):c.9285G>A (p.Val3095=) rs1306359674
NM_001271208.2(NEB):c.9315C>A (p.Val3105=) rs371174518
NM_001271208.2(NEB):c.9329A>G (p.Tyr3110Cys) rs778306283
NM_001271208.2(NEB):c.9345C>T (p.His3115=) rs367739638
NM_001271208.2(NEB):c.9346G>A (p.Glu3116Lys) rs193042896
NM_001271208.2(NEB):c.9352A>T (p.Thr3118Ser) rs543100735
NM_001271208.2(NEB):c.9354A>G (p.Thr3118=) rs187637065
NM_001271208.2(NEB):c.9360G>A (p.Leu3120=) rs749865900
NM_001271208.2(NEB):c.9363T>G (p.Pro3121=) rs6709886
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.9414+1G>T rs1255445731
NM_001271208.2(NEB):c.9425A>G (p.Lys3142Arg) rs771774138
NM_001271208.2(NEB):c.9465C>G (p.Pro3155=) rs1021985219
NM_001271208.2(NEB):c.9465del (p.Ile3156fs) rs1553939600
NM_001271208.2(NEB):c.9466A>T (p.Ile3156Phe)
NM_001271208.2(NEB):c.9467T>A (p.Ile3156Asn) rs145770770
NM_001271208.2(NEB):c.9467T>C (p.Ile3156Thr)
NM_001271208.2(NEB):c.9468T>C (p.Ile3156=) rs751747575
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.9504C>T (p.Thr3168=) rs770587751
NM_001271208.2(NEB):c.9529C>T (p.Arg3177Cys)
NM_001271208.2(NEB):c.9540G>A (p.Pro3180=) rs373833313
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.9619-2A>G rs375145370
NM_001271208.2(NEB):c.9619-9C>T rs778009768
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.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.9723+7G>A rs557480322
NM_001271208.2(NEB):c.9726_9727insAT (p.Leu3243fs) rs1553934562
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.9768C>T (p.Tyr3256=) rs747458739
NM_001271208.2(NEB):c.9769G>A (p.Asp3257Asn)
NM_001271208.2(NEB):c.9775C>T (p.Arg3259Ter)
NM_001271208.2(NEB):c.9776G>A (p.Arg3259Gln)
NM_001271208.2(NEB):c.9796G>A (p.Val3266Met) rs564504601
NM_001271208.2(NEB):c.9813C>T (p.Ser3271=) rs372239158
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.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.9954T>G (p.Tyr3318Ter)
NM_001271208.2(NEB):c.9986T>A (p.Phe3329Tyr)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.