ClinVar Miner

List of variants reported as uncertain significance for Nemaline myopathy 2

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1127
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HGVS dbSNP
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
NM_001164507.1(NEB):c.-195C>T
NM_001271208.1(NEB):c.21213_21218del (p.Tyr7072_Lys7073del) rs1553683577
NM_001271208.1(NEB):c.7651_7656del6 (p.Tyr2551_Lys2552del) rs1553983947
NM_001271208.2(NEB):c.*201A>T
NM_001271208.2(NEB):c.*212T>C
NM_001271208.2(NEB):c.*316C>T
NM_001271208.2(NEB):c.*36C>T rs773628949
NM_001271208.2(NEB):c.*57C>T rs566096042
NM_001271208.2(NEB):c.*95G>A
NM_001271208.2(NEB):c.-114+3A>G rs772077208
NM_001271208.2(NEB):c.-167G>T rs886054948
NM_001271208.2(NEB):c.10021G>T (p.Ala3341Ser)
NM_001271208.2(NEB):c.10026G>C (p.Lys3342Asn) rs117636679
NM_001271208.2(NEB):c.10029G>C (p.Lys3343Asn) rs183321773
NM_001271208.2(NEB):c.10037C>T (p.Thr3346Ile) rs1560628791
NM_001271208.2(NEB):c.10075G>A (p.Glu3359Lys)
NM_001271208.2(NEB):c.10080G>T (p.Trp3360Cys)
NM_001271208.2(NEB):c.10112A>G (p.His3371Arg)
NM_001271208.2(NEB):c.10118G>A (p.Arg3373Gln) rs568814745
NM_001271208.2(NEB):c.10127A>G (p.Tyr3376Cys) rs754298562
NM_001271208.2(NEB):c.10141G>A (p.Asp3381Asn) rs374760449
NM_001271208.2(NEB):c.10144-10_10144-9delinsG rs1553928417
NM_001271208.2(NEB):c.1015G>A (p.Ala339Thr) rs762993577
NM_001271208.2(NEB):c.10181T>C (p.Ile3394Thr) rs376182104
NM_001271208.2(NEB):c.10196T>C (p.Ile3399Thr) rs377734027
NM_001271208.2(NEB):c.10201T>A (p.Ser3401Thr) rs199847072
NM_001271208.2(NEB):c.10213G>T (p.Val3405Phe) rs1553927988
NM_001271208.2(NEB):c.10217A>G (p.Lys3406Arg)
NM_001271208.2(NEB):c.10223A>G (p.Lys3408Arg)
NM_001271208.2(NEB):c.10228G>A (p.Ala3410Thr)
NM_001271208.2(NEB):c.10231G>A (p.Ala3411Thr) rs727504034
NM_001271208.2(NEB):c.10231G>T (p.Ala3411Ser)
NM_001271208.2(NEB):c.10258C>T (p.Arg3420Cys) rs201596787
NM_001271208.2(NEB):c.10341G>A (p.Met3447Ile) rs370053963
NM_001271208.2(NEB):c.10348C>T (p.Arg3450Cys)
NM_001271208.2(NEB):c.1035+6A>G
NM_001271208.2(NEB):c.10419G>A (p.Met3473Ile)
NM_001271208.2(NEB):c.10423G>T (p.Ala3475Ser)
NM_001271208.2(NEB):c.10433A>G (p.Asn3478Ser)
NM_001271208.2(NEB):c.10452+5G>A
NM_001271208.2(NEB):c.1045A>C (p.Lys349Gln) rs369153778
NM_001271208.2(NEB):c.10537G>A (p.Ala3513Thr) rs1560541262
NM_001271208.2(NEB):c.10583G>A (p.Arg3528His) rs199584268
NM_001271208.2(NEB):c.10608C>T (p.Gly3536=) rs144673752
NM_001271208.2(NEB):c.10609G>A (p.Ala3537Thr) rs556492694
NM_001271208.2(NEB):c.10657G>T (p.Ala3553Ser)
NM_001271208.2(NEB):c.10660A>G (p.Lys3554Glu) rs1553912139
NM_001271208.2(NEB):c.10676G>A (p.Arg3559His)
NM_001271208.2(NEB):c.10706A>G (p.Lys3569Arg)
NM_001271208.2(NEB):c.107_109CAA[1] (p.Thr37del) rs1553698850
NM_001271208.2(NEB):c.10802A>G (p.His3601Arg) rs371568550
NM_001271208.2(NEB):c.10809_10810delinsCG (p.Trp3603_Ile3604delinsCysVal)
NM_001271208.2(NEB):c.10817_10819del (p.Leu3606del) rs1553911586
NM_001271208.2(NEB):c.10833_10835CAT[1] (p.Ile3613del) rs773748212
NM_001271208.2(NEB):c.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)
NM_001271208.2(NEB):c.10910T>C (p.Ile3637Thr)
NM_001271208.2(NEB):c.10913G>T (p.Gly3638Val)
NM_001271208.2(NEB):c.10955G>A (p.Arg3652Lys) rs1553908653
NM_001271208.2(NEB):c.10992G>C (p.Gln3664His)
NM_001271208.2(NEB):c.11005C>A (p.Leu3669Met)
NM_001271208.2(NEB):c.11023A>G (p.Thr3675Ala)
NM_001271208.2(NEB):c.11025G>A (p.Thr3675=) rs199789085
NM_001271208.2(NEB):c.11037G>A (p.Glu3679=) rs886054942
NM_001271208.2(NEB):c.11072A>G (p.Asn3691Ser)
NM_001271208.2(NEB):c.11076+12A>G rs201250579
NM_001271208.2(NEB):c.11077C>T (p.Arg3693Cys) rs539139958
NM_001271208.2(NEB):c.11116A>G (p.Ile3706Val) rs199551865
NM_001271208.2(NEB):c.11133T>C (p.Asp3711=) rs547109690
NM_001271208.2(NEB):c.11164C>A (p.Arg3722=)
NM_001271208.2(NEB):c.11165G>A (p.Arg3722Gln) rs757027644
NM_001271208.2(NEB):c.11181+3A>G rs1448725511
NM_001271208.2(NEB):c.11182-8T>A
NM_001271208.2(NEB):c.1119G>A (p.Arg373=) rs200914626
NM_001271208.2(NEB):c.11215A>C (p.Lys3739Gln) rs267598922
NM_001271208.2(NEB):c.11221G>A (p.Gly3741Ser) rs375657086
NM_001271208.2(NEB):c.11234G>T (p.Arg3745Leu) rs765379397
NM_001271208.2(NEB):c.11295_11297del (p.Lys3765_Tyr3766delinsAsn) rs1553898232
NM_001271208.2(NEB):c.11300A>G (p.Lys3767Arg)
NM_001271208.2(NEB):c.11312G>T (p.Arg3771Leu)
NM_001271208.2(NEB):c.11333T>C (p.Ile3778Thr) rs200270156
NM_001271208.2(NEB):c.11361G>A (p.Pro3787=) rs200043736
NM_001271208.2(NEB):c.11371T>C (p.Trp3791Arg)
NM_001271208.2(NEB):c.11417A>G (p.Lys3806Arg)
NM_001271208.2(NEB):c.11440A>G (p.Lys3814Glu) rs1553897365
NM_001271208.2(NEB):c.11450G>A (p.Ser3817Asn) rs776337697
NM_001271208.2(NEB):c.11467G>C (p.Gly3823Arg)
NM_001271208.2(NEB):c.11479G>A (p.Ala3827Thr)
NM_001271208.2(NEB):c.11498T>C (p.Leu3833Pro)
NM_001271208.2(NEB):c.1152+5G>A rs111404077
NM_001271208.2(NEB):c.1152C>T (p.Asp384=) rs767328072
NM_001271208.2(NEB):c.11563G>A (p.Val3855Ile)
NM_001271208.2(NEB):c.11575C>T (p.Arg3859Trp) rs562669490
NM_001271208.2(NEB):c.11581G>T (p.Ala3861Ser) rs750748717
NM_001271208.2(NEB):c.11602-13A>T rs886054941
NM_001271208.2(NEB):c.11615C>G (p.Ser3872Cys) rs886054940
NM_001271208.2(NEB):c.1162A>G (p.Lys388Glu) rs1159204491
NM_001271208.2(NEB):c.11654T>A (p.Ile3885Asn)
NM_001271208.2(NEB):c.11671G>A (p.Glu3891Lys)
NM_001271208.2(NEB):c.11683A>G (p.Arg3895Gly) rs1015014078
NM_001271208.2(NEB):c.11717G>A (p.Arg3906His)
NM_001271208.2(NEB):c.11755G>A (p.Asp3919Asn) rs201483656
NM_001271208.2(NEB):c.11763G>A (p.Pro3921=)
NM_001271208.2(NEB):c.11777C>G (p.Ala3926Gly)
NM_001271208.2(NEB):c.11798T>C (p.Met3933Thr) rs772235127
NM_001271208.2(NEB):c.11806-7C>A rs779713133
NM_001271208.2(NEB):c.1182A>C (p.Thr394=)
NM_001271208.2(NEB):c.11843C>T (p.Ser3948Phe)
NM_001271208.2(NEB):c.11851G>A (p.Val3951Met) rs759624618
NM_001271208.2(NEB):c.1187C>T (p.Ala396Val) rs369957704
NM_001271208.2(NEB):c.11884A>C (p.Lys3962Gln)
NM_001271208.2(NEB):c.11889T>A (p.Ser3963Arg)
NM_001271208.2(NEB):c.11891A>T (p.Asn3964Ile) rs1560398552
NM_001271208.2(NEB):c.11893T>G (p.Ser3965Ala)
NM_001271208.2(NEB):c.11900A>G (p.Asn3967Ser)
NM_001271208.2(NEB):c.11915T>G (p.Leu3972Arg) rs769145449
NM_001271208.2(NEB):c.11949_11957dup (p.Asp3986_Leu3987insGluAspTyr)
NM_001271208.2(NEB):c.11954A>G (p.Tyr3985Cys) rs745504838
NM_001271208.2(NEB):c.11974A>G (p.Ile3992Val) rs1465332264
NM_001271208.2(NEB):c.11980A>G (p.Ile3994Val)
NM_001271208.2(NEB):c.11988T>A (p.Ser3996Arg)
NM_001271208.2(NEB):c.12018+8C>G
NM_001271208.2(NEB):c.1209G>T (p.Glu403Asp)
NM_001271208.2(NEB):c.12103G>A (p.Ala4035Thr)
NM_001271208.2(NEB):c.1211C>T (p.Thr404Ile) rs200585609
NM_001271208.2(NEB):c.12176C>G (p.Ser4059Cys)
NM_001271208.2(NEB):c.12200T>C (p.Ile4067Thr)
NM_001271208.2(NEB):c.12210C>G (p.Ala4070=)
NM_001271208.2(NEB):c.1221C>G (p.Phe407Leu) rs1033938609
NM_001271208.2(NEB):c.12234T>A (p.Thr4078=) rs752937326
NM_001271208.2(NEB):c.12239T>C (p.Ile4080Thr)
NM_001271208.2(NEB):c.12247C>T (p.Arg4083Cys) rs368383341
NM_001271208.2(NEB):c.12248G>A (p.Arg4083His)
NM_001271208.2(NEB):c.12251A>G (p.Asn4084Ser)
NM_001271208.2(NEB):c.12258G>C (p.Leu4086=)
NM_001271208.2(NEB):c.1225C>T (p.Leu409Phe) rs373883986
NM_001271208.2(NEB):c.12279G>A (p.Pro4093=) rs367638234
NM_001271208.2(NEB):c.1227C>G (p.Leu409=) rs371658494
NM_001271208.2(NEB):c.1227C>T (p.Leu409=)
NM_001271208.2(NEB):c.12288C>A (p.Asn4096Lys)
NM_001271208.2(NEB):c.12298C>G (p.Gln4100Glu)
NM_001271208.2(NEB):c.1229A>C (p.Asp410Ala)
NM_001271208.2(NEB):c.12369C>G (p.Ile4123Met) rs1277282343
NM_001271208.2(NEB):c.12370G>A (p.Gly4124Ser) rs1227592399
NM_001271208.2(NEB):c.12382G>A (p.Glu4128Lys) rs1553877949
NM_001271208.2(NEB):c.12395A>G (p.Glu4132Gly) rs1553877904
NM_001271208.2(NEB):c.12406G>A (p.Val4136Met) rs1553877868
NM_001271208.2(NEB):c.12407T>G (p.Val4136Gly) rs1553877860
NM_001271208.2(NEB):c.12413T>G (p.Val4138Gly) rs1553877811
NM_001271208.2(NEB):c.12443A>G (p.Tyr4148Cys) rs1553877721
NM_001271208.2(NEB):c.12490C>T (p.Pro4164Ser) rs1553877565
NM_001271208.2(NEB):c.12511G>A (p.Ala4171Thr) rs1420479305
NM_001271208.2(NEB):c.12529A>T (p.Ser4177Cys) rs1553877493
NM_001271208.2(NEB):c.12550G>A (p.Ala4184Thr) rs1553877049
NM_001271208.2(NEB):c.12596C>T (p.Pro4199Leu) rs1365594299
NM_001271208.2(NEB):c.12601A>T (p.Met4201Leu) rs1553876833
NM_001271208.2(NEB):c.12662A>G (p.Asn4221Ser) rs1553875590
NM_001271208.2(NEB):c.1267A>G (p.Lys423Glu)
NM_001271208.2(NEB):c.12686A>G (p.Asp4229Gly) rs1553875409
NM_001271208.2(NEB):c.12688A>G (p.Ile4230Val) rs532986882
NM_001271208.2(NEB):c.12747+5G>A rs1251007091
NM_001271208.2(NEB):c.12769C>T (p.Arg4257Cys) rs1376744526
NM_001271208.2(NEB):c.12770G>A (p.Arg4257His) rs576918934
NM_001271208.2(NEB):c.12790A>G (p.Met4264Val) rs1363996930
NM_001271208.2(NEB):c.127G>C (p.Glu43Gln)
NM_001271208.2(NEB):c.12800G>A (p.Arg4267His) rs1049044616
NM_001271208.2(NEB):c.12808C>A (p.Gln4270Lys) rs1057524648
NM_001271208.2(NEB):c.1285G>T (p.Asp429Tyr) rs577939684
NM_001271208.2(NEB):c.128A>C (p.Glu43Ala)
NM_001271208.2(NEB):c.12902A>T (p.His4301Leu) rs1553872062
NM_001271208.2(NEB):c.12905A>T (p.Asn4302Ile) rs886038429
NM_001271208.2(NEB):c.12911C>T (p.Pro4304Leu) rs1456001729
NM_001271208.2(NEB):c.12922A>G (p.Met4308Val) rs1553871982
NM_001271208.2(NEB):c.12976C>T (p.Arg4326Cys) rs1270122330
NM_001271208.2(NEB):c.12977G>A (p.Arg4326His) rs1429486273
NM_001271208.2(NEB):c.13018G>A (p.Asp4340Asn) rs1462818722
NM_001271208.2(NEB):c.13052A>G (p.Gln4351Arg) rs1553871396
NM_001271208.2(NEB):c.13056C>A (p.Ser4352Arg) rs1468240932
NM_001271208.2(NEB):c.13059+4C>T rs1253831275
NM_001271208.2(NEB):c.13078C>G (p.Leu4360Val) rs761799512
NM_001271208.2(NEB):c.13081G>A (p.Glu4361Lys) rs202017360
NM_001271208.2(NEB):c.1310G>A (p.Ser437Asn)
NM_001271208.2(NEB):c.13132A>G (p.Arg4378Gly) rs1189557869
NM_001271208.2(NEB):c.1316A>G (p.Glu439Gly) rs1553608272
NM_001271208.2(NEB):c.13175G>A (p.Arg4392His) rs772352938
NM_001271208.2(NEB):c.13204A>G (p.Ser4402Gly) rs1475846023
NM_001271208.2(NEB):c.13263+8C>T rs1553866957
NM_001271208.2(NEB):c.1333C>T (p.His445Tyr)
NM_001271208.2(NEB):c.13349_13353delinsGTGCT (p.Asn4450Ser) rs1553865895
NM_001271208.2(NEB):c.13368+6A>G rs886038433
NM_001271208.2(NEB):c.13369-14CT[2] rs1553865749
NM_001271208.2(NEB):c.13370A>C (p.Lys4457Thr) rs1057521174
NM_001271208.2(NEB):c.13406C>T (p.Thr4469Ile) rs1192545815
NM_001271208.2(NEB):c.13456T>A (p.Ser4486Thr) rs886038434
NM_001271208.2(NEB):c.13460G>T (p.Arg4487Met) rs1553865625
NM_001271208.2(NEB):c.13465A>C (p.Ile4489Leu) rs1553865611
NM_001271208.2(NEB):c.13466T>C (p.Ile4489Thr) rs1433188091
NM_001271208.2(NEB):c.13475_13476delinsTT (p.Asp4492Val) rs1553865579
NM_001271208.2(NEB):c.13520T>C (p.Ile4507Thr) rs1553862732
NM_001271208.2(NEB):c.13534G>A (p.Ala4512Thr) rs886038435
NM_001271208.2(NEB):c.1365+14C>A rs750849844
NM_001271208.2(NEB):c.1365+5G>T rs1553607969
NM_001271208.2(NEB):c.13651G>A (p.Val4551Met) rs1553862399
NM_001271208.2(NEB):c.13661G>A (p.Ser4554Asn) rs1057522021
NM_001271208.2(NEB):c.13706G>A (p.Arg4569His) rs1216367965
NM_001271208.2(NEB):c.13717C>T (p.His4573Tyr) rs1553862206
NM_001271208.2(NEB):c.13753A>G (p.Ile4585Val) rs886038440
NM_001271208.2(NEB):c.13754T>C (p.Ile4585Thr) rs1553862132
NM_001271208.2(NEB):c.13G>A (p.Glu5Lys) rs374390581
NM_001271208.2(NEB):c.1404A>G (p.Lys468=)
NM_001271208.2(NEB):c.1462T>A (p.Cys488Ser)
NM_001271208.2(NEB):c.1470+2dup rs1477702016
NM_001271208.2(NEB):c.1470C>T (p.Asp490=) rs778189876
NM_001271208.2(NEB):c.1478A>G (p.Tyr493Cys)
NM_001271208.2(NEB):c.1493A>G (p.Asp498Gly) rs1255744452
NM_001271208.2(NEB):c.1504T>C (p.Phe502Leu)
NM_001271208.2(NEB):c.1528G>T (p.Val510Phe)
NM_001271208.2(NEB):c.1535T>A (p.Leu512Gln)
NM_001271208.2(NEB):c.153_167del (p.52_56LAQPA[1]) rs757726895
NM_001271208.2(NEB):c.154_168CTGGCACAGCCAGCA[3] (p.52_56LAQPA[3]) rs377452683
NM_001271208.2(NEB):c.1550A>G (p.Asn517Ser) rs199710125
NM_001271208.2(NEB):c.1569+3A>T
NM_001271208.2(NEB):c.1610G>A (p.Cys537Tyr) rs935982815
NM_001271208.2(NEB):c.1618C>G (p.Pro540Ala) rs1271816542
NM_001271208.2(NEB):c.1621C>G (p.Pro541Ala) rs1324280943
NM_001271208.2(NEB):c.1648A>G (p.Lys550Glu) rs756920047
NM_001271208.2(NEB):c.1649_1651del (p.Lys550_Val551delinsIle) rs746163908
NM_001271208.2(NEB):c.1654A>G (p.Asn552Asp)
NM_001271208.2(NEB):c.16735C>T (p.Arg5579Cys)
NM_001271208.2(NEB):c.1674+3A>C
NM_001271208.2(NEB):c.16750A>G (p.Met5584Val)
NM_001271208.2(NEB):c.16789G>A (p.Ala5597Thr)
NM_001271208.2(NEB):c.16790C>G (p.Ala5597Gly) rs777969701
NM_001271208.2(NEB):c.16814T>C (p.Val5605Ala)
NM_001271208.2(NEB):c.16817A>G (p.Tyr5606Cys) rs372049328
NM_001271208.2(NEB):c.16823C>T (p.Thr5608Met)
NM_001271208.2(NEB):c.16954A>G (p.Ile5652Val) rs767425744
NM_001271208.2(NEB):c.16954A>T (p.Ile5652Leu)
NM_001271208.2(NEB):c.16958T>C (p.Met5653Thr) rs763012000
NM_001271208.2(NEB):c.16967C>T (p.Thr5656Ile)
NM_001271208.2(NEB):c.16984G>A (p.Ala5662Thr)
NM_001271208.2(NEB):c.1698G>A (p.Glu566=)
NM_001271208.2(NEB):c.17023C>G (p.Arg5675Gly)
NM_001271208.2(NEB):c.17048C>T (p.Ala5683Val) rs761829162
NM_001271208.2(NEB):c.17114G>A (p.Ser5705Asn)
NM_001271208.2(NEB):c.17118C>T (p.Asp5706=) rs769476760
NM_001271208.2(NEB):c.17129A>G (p.Lys5710Arg)
NM_001271208.2(NEB):c.17156A>T (p.His5719Leu) rs776095941
NM_001271208.2(NEB):c.17161G>A (p.Val5721Met)
NM_001271208.2(NEB):c.17180G>C (p.Arg5727Thr)
NM_001271208.2(NEB):c.17183A>G (p.Asp5728Gly)
NM_001271208.2(NEB):c.17183A>T (p.Asp5728Val) rs756098317
NM_001271208.2(NEB):c.17198G>A (p.Arg5733His)
NM_001271208.2(NEB):c.17198G>T (p.Arg5733Leu)
NM_001271208.2(NEB):c.17200T>C (p.Trp5734Arg)
NM_001271208.2(NEB):c.17203G>A (p.Ala5735Thr) rs202111641
NM_001271208.2(NEB):c.17215G>A (p.Asp5739Asn) rs200672818
NM_001271208.2(NEB):c.17234G>A (p.Arg5745Gln) rs773556106
NM_001271208.2(NEB):c.17242C>T (p.Arg5748Trp) rs546869744
NM_001271208.2(NEB):c.17243G>A (p.Arg5748Gln)
NM_001271208.2(NEB):c.17297C>T (p.Ser5766Phe)
NM_001271208.2(NEB):c.1729G>A (p.Val577Met) rs1419317928
NM_001271208.2(NEB):c.17341G>C (p.Asp5781His) rs897368602
NM_001271208.2(NEB):c.17347C>T (p.Arg5783Cys) rs1037281077
NM_001271208.2(NEB):c.1735G>T (p.Ala579Ser) rs758068422
NM_001271208.2(NEB):c.17369C>T (p.Thr5790Ile)
NM_001271208.2(NEB):c.17376_17381del (p.Met5792_Asp5794delinsIle)
NM_001271208.2(NEB):c.17396T>C (p.Ile5799Thr)
NM_001271208.2(NEB):c.17401G>A (p.Ala5801Thr) rs1204919597
NM_001271208.2(NEB):c.17404_17406AAG[1] (p.Lys5803del) rs1553787578
NM_001271208.2(NEB):c.17415C>T (p.Tyr5805=) rs555516831
NM_001271208.2(NEB):c.17416G>A (p.Glu5806Lys) rs748311158
NM_001271208.2(NEB):c.17462G>A (p.Arg5821His) rs773239926
NM_001271208.2(NEB):c.17478G>A (p.Met5826Ile)
NM_001271208.2(NEB):c.17479C>T (p.Pro5827Ser) rs1560050173
NM_001271208.2(NEB):c.17491G>A (p.Val5831Met)
NM_001271208.2(NEB):c.17518G>A (p.Ala5840Thr)
NM_001271208.2(NEB):c.17519C>T (p.Ala5840Val)
NM_001271208.2(NEB):c.17520G>A (p.Ala5840=) rs372786852
NM_001271208.2(NEB):c.17535+3A>G rs1553784210
NM_001271208.2(NEB):c.17543A>G (p.Tyr5848Cys)
NM_001271208.2(NEB):c.17573C>T (p.Thr5858Met) rs747699601
NM_001271208.2(NEB):c.17619C>T (p.Gly5873=)
NM_001271208.2(NEB):c.17627T>C (p.Leu5876Pro) rs1181510782
NM_001271208.2(NEB):c.17645G>A (p.Arg5882Gln) rs558345996
NM_001271208.2(NEB):c.17677A>G (p.Thr5893Ala) rs762095177
NM_001271208.2(NEB):c.177G>A (p.Gln59=) rs200990309
NM_001271208.2(NEB):c.1782+4_1782+5del rs398124168
NM_001271208.2(NEB):c.17845-5G>A
NM_001271208.2(NEB):c.17865T>G (p.His5955Gln) rs1394078245
NM_001271208.2(NEB):c.17897C>T (p.Pro5966Leu) rs368912483
NM_001271208.2(NEB):c.17900C>T (p.Thr5967Met) rs778982089
NM_001271208.2(NEB):c.17913T>A (p.Asp5971Glu) rs1167894918
NM_001271208.2(NEB):c.17919G>C (p.Lys5973Asn) rs752928207
NM_001271208.2(NEB):c.17931T>C (p.Phe5977=) rs886054938
NM_001271208.2(NEB):c.17938G>A (p.Ala5980Thr) rs1267739726
NM_001271208.2(NEB):c.17965T>A (p.Tyr5989Asn) rs752113075
NM_001271208.2(NEB):c.17980C>G (p.His5994Asp)
NM_001271208.2(NEB):c.18008C>G (p.Pro6003Arg)
NM_001271208.2(NEB):c.18037A>C (p.Lys6013Gln)
NM_001271208.2(NEB):c.18064A>G (p.Ile6022Val) rs574746662
NM_001271208.2(NEB):c.18073C>T (p.Arg6025Cys) rs765174060
NM_001271208.2(NEB):c.18074G>A (p.Arg6025His) rs751957350
NM_001271208.2(NEB):c.18096G>A (p.Met6032Ile)
NM_001271208.2(NEB):c.18115G>A (p.Asp6039Asn) rs377076154
NM_001271208.2(NEB):c.18127G>A (p.Ala6043Thr) rs1553775860
NM_001271208.2(NEB):c.18152G>A (p.Ser6051Asn)
NM_001271208.2(NEB):c.18166A>G (p.Arg6056Gly)
NM_001271208.2(NEB):c.18261+5G>A
NM_001271208.2(NEB):c.18262-13C>T rs374553944
NM_001271208.2(NEB):c.1826T>C (p.Ile609Thr) rs748239538
NM_001271208.2(NEB):c.1828G>A (p.Gly610Arg)
NM_001271208.2(NEB):c.1829G>A (p.Gly610Glu) rs139125293
NM_001271208.2(NEB):c.18310G>C (p.Val6104Leu)
NM_001271208.2(NEB):c.18330T>G (p.Ile6110Met)
NM_001271208.2(NEB):c.18398A>G (p.Lys6133Arg) rs199594449
NM_001271208.2(NEB):c.18431A>G (p.His6144Arg) rs34504204
NM_001271208.2(NEB):c.18439C>T (p.His6147Tyr)
NM_001271208.2(NEB):c.18488C>T (p.Ala6163Val) rs201529683
NM_001271208.2(NEB):c.18496G>A (p.Gly6166Ser) rs1239862833
NM_001271208.2(NEB):c.18510_18515del (p.Gly6171_Tyr6172del) rs1553767010
NM_001271208.2(NEB):c.18542T>C (p.Ile6181Thr)
NM_001271208.2(NEB):c.18579+11C>T rs567282220
NM_001271208.2(NEB):c.18579+15T>C
NM_001271208.2(NEB):c.18596C>T (p.Thr6199Ile)
NM_001271208.2(NEB):c.185C>T (p.Ser62Leu)
NM_001271208.2(NEB):c.18613G>A (p.Gly6205Ser)
NM_001271208.2(NEB):c.18646T>C (p.Phe6216Leu) rs202211102
NM_001271208.2(NEB):c.18692C>T (p.Ala6231Val) rs375357016
NM_001271208.2(NEB):c.18694-3T>C rs370200484
NM_001271208.2(NEB):c.18694-6_18694-2del rs1377029367
NM_001271208.2(NEB):c.18709C>G (p.His6237Asp)
NM_001271208.2(NEB):c.18724A>G (p.Lys6242Glu) rs886054937
NM_001271208.2(NEB):c.1872G>T (p.Leu624Phe) rs775430225
NM_001271208.2(NEB):c.18737A>G (p.His6246Arg)
NM_001271208.2(NEB):c.18742C>T (p.Pro6248Ser) rs189541265
NM_001271208.2(NEB):c.18746A>G (p.Asn6249Ser) rs550191566
NM_001271208.2(NEB):c.18786C>T (p.Tyr6262=) rs374874999
NM_001271208.2(NEB):c.18800T>C (p.Leu6267Pro) rs184723737
NM_001271208.2(NEB):c.18809G>A (p.Arg6270Gln)
NM_001271208.2(NEB):c.18809_18811del (p.Arg6270del) rs1553762776
NM_001271208.2(NEB):c.18830C>T (p.Thr6277Met) rs371689870
NM_001271208.2(NEB):c.1883A>C (p.Lys628Thr)
NM_001271208.2(NEB):c.18859C>T (p.Arg6287Cys)
NM_001271208.2(NEB):c.18860G>A (p.Arg6287His)
NM_001271208.2(NEB):c.18862G>A (p.Val6288Ile) rs201886728
NM_001271208.2(NEB):c.18866G>A (p.Arg6289Gln) rs575958060
NM_001271208.2(NEB):c.18870C>T (p.Asn6290=) rs200122580
NM_001271208.2(NEB):c.18918G>T (p.Trp6306Cys) rs1559952676
NM_001271208.2(NEB):c.18948T>A (p.Asp6316Glu)
NM_001271208.2(NEB):c.18953C>T (p.Pro6318Leu) rs267598920
NM_001271208.2(NEB):c.1896T>A (p.Asp632Glu) rs978952705
NM_001271208.2(NEB):c.1899A>T (p.Arg633Ser) rs77826191
NM_001271208.2(NEB):c.19030C>T (p.Gln6344Ter) rs1559940778
NM_001271208.2(NEB):c.19082G>A (p.Ser6361Asn) rs768390701
NM_001271208.2(NEB):c.19101+5G>A rs374929094
NM_001271208.2(NEB):c.19137C>T (p.Asp6379=) rs778962225
NM_001271208.2(NEB):c.19157A>G (p.Glu6386Gly) rs200056050
NM_001271208.2(NEB):c.19162G>A (p.Val6388Met)
NM_001271208.2(NEB):c.1916A>G (p.Tyr639Cys) rs1559315113
NM_001271208.2(NEB):c.19214A>G (p.Tyr6405Cys) rs368240939
NM_001271208.2(NEB):c.19301A>C (p.His6434Pro)
NM_001271208.2(NEB):c.19315-4A>G rs778306769
NM_001271208.2(NEB):c.19324C>T (p.Arg6442Trp)
NM_001271208.2(NEB):c.19325G>A (p.Arg6442Gln)
NM_001271208.2(NEB):c.19358C>T (p.Thr6453Met)
NM_001271208.2(NEB):c.19385C>T (p.Pro6462Leu)
NM_001271208.2(NEB):c.19397G>A (p.Arg6466Gln) rs747425038
NM_001271208.2(NEB):c.19400G>C (p.Cys6467Ser)
NM_001271208.2(NEB):c.19406G>C (p.Arg6469Pro)
NM_001271208.2(NEB):c.19428+8C>A rs773614835
NM_001271208.2(NEB):c.19429C>T (p.Arg6477Cys)
NM_001271208.2(NEB):c.1942A>T (p.Asn648Tyr) rs1553592578
NM_001271208.2(NEB):c.19455G>A (p.Lys6485=) rs182847302
NM_001271208.2(NEB):c.19477G>A (p.Val6493Met) rs1233717326
NM_001271208.2(NEB):c.19486A>G (p.Met6496Val)
NM_001271208.2(NEB):c.194C>T (p.Pro65Leu) rs375909006
NM_001271208.2(NEB):c.19518_19520GAA[1] (p.Lys6508del) rs1553736221
NM_001271208.2(NEB):c.1952A>T (p.Glu651Val) rs1553592436
NM_001271208.2(NEB):c.19535T>C (p.Ile6512Thr)
NM_001271208.2(NEB):c.1953G>A (p.Glu651=) rs367997645
NM_001271208.2(NEB):c.19544G>A (p.Arg6515His) rs757278862
NM_001271208.2(NEB):c.1954A>G (p.Thr652Ala)
NM_001271208.2(NEB):c.19550G>A (p.Arg6517His)
NM_001271208.2(NEB):c.1957C>T (p.Pro653Ser)
NM_001271208.2(NEB):c.19593T>C (p.Asp6531=) rs886054935
NM_001271208.2(NEB):c.19597G>A (p.Val6533Ile) rs368484176
NM_001271208.2(NEB):c.19613A>T (p.Asp6538Val)
NM_001271208.2(NEB):c.19626T>C (p.Asp6542=) rs190336010
NM_001271208.2(NEB):c.19675G>A (p.Val6559Ile)
NM_001271208.2(NEB):c.19686T>G (p.Thr6562=) rs886054934
NM_001271208.2(NEB):c.19699C>A (p.His6567Asn) rs886054933
NM_001271208.2(NEB):c.19722A>G (p.Leu6574=) rs141526973
NM_001271208.2(NEB):c.19724G>T (p.Arg6575Leu) rs185999504
NM_001271208.2(NEB):c.19739A>G (p.Tyr6580Cys)
NM_001271208.2(NEB):c.19746T>C (p.Ala6582=) rs143456239
NM_001271208.2(NEB):c.19751T>G (p.Met6584Arg) rs190605644
NM_001271208.2(NEB):c.19801G>A (p.Val6601Met)
NM_001271208.2(NEB):c.19826A>T (p.Gln6609Leu) rs1553730155
NM_001271208.2(NEB):c.19836C>T (p.Asp6612=) rs371194689
NM_001271208.2(NEB):c.19865G>A (p.Ser6622Asn) rs144168709
NM_001271208.2(NEB):c.19894A>G (p.Lys6632Glu) rs765189771
NM_001271208.2(NEB):c.19919T>G (p.Leu6640Arg) rs886054932
NM_001271208.2(NEB):c.19939A>G (p.Ser6647Gly) rs1559830688
NM_001271208.2(NEB):c.19944+7A>G
NM_001271208.2(NEB):c.19966C>T (p.Arg6656Cys) rs527250558
NM_001271208.2(NEB):c.19978A>G (p.Thr6660Ala)
NM_001271208.2(NEB):c.19993C>T (p.Pro6665Ser) rs751724804
NM_001271208.2(NEB):c.1999G>A (p.Ala667Thr) rs750186349
NM_001271208.2(NEB):c.20021_20023del (p.Ile6674del)
NM_001271208.2(NEB):c.20032C>T (p.Arg6678Cys) rs200239095
NM_001271208.2(NEB):c.20038A>G (p.Met6680Val)
NM_001271208.2(NEB):c.20098C>A (p.Leu6700Ile) rs202139330
NM_001271208.2(NEB):c.20099T>C (p.Leu6700Pro) rs560109089
NM_001271208.2(NEB):c.20128G>A (p.Val6710Ile) rs199890298
NM_001271208.2(NEB):c.20131C>T (p.Arg6711Trp) rs533233215
NM_001271208.2(NEB):c.20144A>G (p.Asn6715Ser) rs536934629
NM_001271208.2(NEB):c.20162T>C (p.Leu6721Pro) rs111517514
NM_001271208.2(NEB):c.2020G>A (p.Val674Ile) rs775553284
NM_001271208.2(NEB):c.20212G>A (p.Asp6738Asn) rs201337732
NM_001271208.2(NEB):c.20218C>A (p.Pro6740Thr)
NM_001271208.2(NEB):c.20228G>A (p.Arg6743His) rs755370356
NM_001271208.2(NEB):c.20245C>A (p.Gln6749Lys) rs772854423
NM_001271208.2(NEB):c.20290A>G (p.Met6764Val)
NM_001271208.2(NEB):c.20315C>T (p.Pro6772Leu) rs1559782362
NM_001271208.2(NEB):c.20359A>G (p.Thr6787Ala)
NM_001271208.2(NEB):c.20360C>T (p.Thr6787Ile)
NM_001271208.2(NEB):c.20367+15G>C rs886054931
NM_001271208.2(NEB):c.20371A>G (p.Lys6791Glu) rs758370711
NM_001271208.2(NEB):c.20434A>G (p.Met6812Val)
NM_001271208.2(NEB):c.20437G>A (p.Val6813Ile)
NM_001271208.2(NEB):c.20440C>T (p.Arg6814Cys)
NM_001271208.2(NEB):c.20441G>A (p.Arg6814His) rs773584363
NM_001271208.2(NEB):c.20442_20447dup (p.Ser6815_Arg6816dup) rs760783104
NM_001271208.2(NEB):c.20466+11A>G rs181826071
NM_001271208.2(NEB):c.20466+5G>C
NM_001271208.2(NEB):c.20466+7G>A rs201684605
NM_001271208.2(NEB):c.20577+6G>A rs775513148
NM_001271208.2(NEB):c.20578-6G>A rs376710012
NM_001271208.2(NEB):c.20578-8A>G
NM_001271208.2(NEB):c.2062C>G (p.Pro688Ala) rs750276279
NM_001271208.2(NEB):c.2062C>T (p.Pro688Ser) rs750276279
NM_001271208.2(NEB):c.20654C>T (p.Ala6885Val) rs202209668
NM_001271208.2(NEB):c.20711A>G (p.Glu6904Gly) rs886054930
NM_001271208.2(NEB):c.20721_20723TCA[1] (p.His6909del) rs1553696713
NM_001271208.2(NEB):c.20728G>A (p.Ala6910Thr) rs750152377
NM_001271208.2(NEB):c.20763_20774del (p.Lys6921_Asp6925delinsAsn) rs1553696371
NM_001271208.2(NEB):c.20765A>T (p.Asp6922Val)
NM_001271208.2(NEB):c.20776A>G (p.Met6926Val) rs1559707924
NM_001271208.2(NEB):c.20846C>T (p.Thr6949Met) rs767461697
NM_001271208.2(NEB):c.20853C>T (p.Ile6951=) rs199730497
NM_001271208.2(NEB):c.20896C>T (p.Arg6966Cys)
NM_001271208.2(NEB):c.20897G>A (p.Arg6966His)
NM_001271208.2(NEB):c.20906A>T (p.Glu6969Val) rs371680259
NM_001271208.2(NEB):c.20933A>G (p.Tyr6978Cys)
NM_001271208.2(NEB):c.20941G>A (p.Val6981Met) rs374961597
NM_001271208.2(NEB):c.20945A>T (p.Lys6982Ile)
NM_001271208.2(NEB):c.20956G>C (p.Asp6986His) rs150874422
NM_001271208.2(NEB):c.20972G>A (p.Arg6991His)
NM_001271208.2(NEB):c.20977G>A (p.Val6993Ile)
NM_001271208.2(NEB):c.2099A>G (p.Asn700Ser)
NM_001271208.2(NEB):c.21010_21012del (p.Glu7004del) rs770208836
NM_001271208.2(NEB):c.2106+3A>C rs1553589058
NM_001271208.2(NEB):c.2107-8C>T rs369441230
NM_001271208.2(NEB):c.21102T>C (p.Asp7034=) rs531711771
NM_001271208.2(NEB):c.21173C>T (p.Thr7058Ile) rs200523155
NM_001271208.2(NEB):c.21196C>A (p.Leu7066Ile) rs1428589113
NM_001271208.2(NEB):c.21209A>G (p.Tyr7070Cys) rs754366347
NM_001271208.2(NEB):c.21215A>G (p.Tyr7072Cys)
NM_001271208.2(NEB):c.21221A>G (p.Glu7074Gly)
NM_001271208.2(NEB):c.2122G>A (p.Glu708Lys) rs1553587676
NM_001271208.2(NEB):c.21238_21243del (p.Lys7080_Ser7081del) rs1553683478
NM_001271208.2(NEB):c.21268C>G (p.Pro7090Ala)
NM_001271208.2(NEB):c.21312+5G>A
NM_001271208.2(NEB):c.21316A>G (p.Lys7106Glu)
NM_001271208.2(NEB):c.21340C>T (p.Arg7114Trp) rs186686151
NM_001271208.2(NEB):c.21341G>A (p.Arg7114Gln) rs372284984
NM_001271208.2(NEB):c.21346G>A (p.Asp7116Asn) rs372827767
NM_001271208.2(NEB):c.21348T>A (p.Asp7116Glu) rs199934793
NM_001271208.2(NEB):c.21392A>T (p.Lys7131Met)
NM_001271208.2(NEB):c.21397G>T (p.Ala7133Ser) rs988993094
NM_001271208.2(NEB):c.21402C>T (p.Gly7134=)
NM_001271208.2(NEB):c.21442A>G (p.Met7148Val) rs750039342
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.2155C>T (p.Pro719Ser) rs376503299
NM_001271208.2(NEB):c.21574G>T (p.Val7192Leu)
NM_001271208.2(NEB):c.21595C>A (p.Arg7199Ser)
NM_001271208.2(NEB):c.21596G>C (p.Arg7199Pro)
NM_001271208.2(NEB):c.2162C>T (p.Thr721Ile)
NM_001271208.2(NEB):c.21648_21650CAA[1] (p.Asn7217del) rs758160111
NM_001271208.2(NEB):c.21689_21690inv (p.Thr7230Met)
NM_001271208.2(NEB):c.21693C>T (p.Pro7231=)
NM_001271208.2(NEB):c.21769T>A (p.Ser7257Thr) rs191722579
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.21825C>T (p.Tyr7275=) rs34718443
NM_001271208.2(NEB):c.21856C>G (p.Gln7286Glu) rs373946758
NM_001271208.2(NEB):c.21862G>A (p.Glu7288Lys)
NM_001271208.2(NEB):c.21884A>G (p.Lys7295Arg)
NM_001271208.2(NEB):c.21902C>T (p.Pro7301Leu) rs367626762
NM_001271208.2(NEB):c.21945+13A>C rs75515097
NM_001271208.2(NEB):c.21946-6T>A rs767466501
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.21968A>G (p.Glu7323Gly)
NM_001271208.2(NEB):c.22021G>A (p.Ala7341Thr) rs1289511955
NM_001271208.2(NEB):c.22051-2del rs1553647715
NM_001271208.2(NEB):c.22075A>C (p.Lys7359Gln) rs756646859
NM_001271208.2(NEB):c.22078G>A (p.Glu7360Lys) rs747662624
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.2211+5G>T 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.22142A>T (p.Asn7381Ile)
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.22204_22206ACA[1] (p.Thr7403del) rs1553646403
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)
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.22338G>C (p.Glu7446Asp)
NM_001271208.2(NEB):c.2234A>G (p.Asp745Gly)
NM_001271208.2(NEB):c.22369C>A (p.Gln7457Lys) rs369642754
NM_001271208.2(NEB):c.22377+2dup
NM_001271208.2(NEB):c.22377+7T>C rs762551492
NM_001271208.2(NEB):c.22378-5T>C rs886054929
NM_001271208.2(NEB):c.22378-6_22378-2dup rs758609054
NM_001271208.2(NEB):c.22378G>T (p.Val7460Phe)
NM_001271208.2(NEB):c.22444_22446AAG[1] (p.Lys7483del) rs1553641943
NM_001271208.2(NEB):c.22475G>C (p.Ser7492Thr) rs142454476
NM_001271208.2(NEB):c.22479+13_22479+33dup rs1553641788
NM_001271208.2(NEB):c.22479+6G>A rs749050869
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.22534G>A (p.Gly7512Ser) rs764674361
NM_001271208.2(NEB):c.22537C>T (p.Arg7513Cys) rs202050860
NM_001271208.2(NEB):c.22538G>A (p.Arg7513His)
NM_001271208.2(NEB):c.22544A>C (p.Asp7515Ala) rs886054928
NM_001271208.2(NEB):c.22546A>G (p.Ile7516Val) rs374581669
NM_001271208.2(NEB):c.22607A>G (p.Asp7536Gly) rs771620082
NM_001271208.2(NEB):c.22609A>G (p.Lys7537Glu)
NM_001271208.2(NEB):c.22640C>T (p.Pro7547Leu)
NM_001271208.2(NEB):c.22695+2T>C rs200449517
NM_001271208.2(NEB):c.22696-3C>T
NM_001271208.2(NEB):c.2272C>A (p.Leu758Met)
NM_001271208.2(NEB):c.22747A>G (p.Lys7583Glu) rs201976154
NM_001271208.2(NEB):c.22747_22749del (p.Lys7583del) rs1553629857
NM_001271208.2(NEB):c.22752G>A (p.Glu7584=) rs201688876
NM_001271208.2(NEB):c.22768C>T (p.His7590Tyr)
NM_001271208.2(NEB):c.22781C>T (p.Thr7594Ile)
NM_001271208.2(NEB):c.22782A>T (p.Thr7594=) rs778662915
NM_001271208.2(NEB):c.22795A>G (p.Ser7599Gly) rs749222946
NM_001271208.2(NEB):c.22810_22812AAG[2] (p.Lys7606del) rs760161843
NM_001271208.2(NEB):c.22905+9A>G rs144303545
NM_001271208.2(NEB):c.22906-7T>C
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.23010+2dup rs1553623381
NM_001271208.2(NEB):c.23011-6_23011-2del rs1014710501
NM_001271208.2(NEB):c.23075C>T (p.Thr7692Met) rs770889470
NM_001271208.2(NEB):c.23089C>T (p.His7697Tyr)
NM_001271208.2(NEB):c.23091T>C (p.His7697=)
NM_001271208.2(NEB):c.23118C>T (p.Ser7706=) rs370873040
NM_001271208.2(NEB):c.23122-3T>C rs111314898
NM_001271208.2(NEB):c.23129A>T (p.Tyr7710Phe)
NM_001271208.2(NEB):c.23153T>C (p.Ile7718Thr)
NM_001271208.2(NEB):c.23156G>A (p.Arg7719His)
NM_001271208.2(NEB):c.23232+2T>C rs112610938
NM_001271208.2(NEB):c.23232+4G>A rs764457781
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.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.23384A>G (p.Asn7795Ser) rs1232744915
NM_001271208.2(NEB):c.23425_23427CAA[1] (p.Gln7810del) rs1553614214
NM_001271208.2(NEB):c.23443T>A (p.Ser7815Thr) rs1553614160
NM_001271208.2(NEB):c.23451+5G>A
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.23483_23485del (p.Met7828_Ser7829delinsThr) rs1553603652
NM_001271208.2(NEB):c.23487G>A (p.Ser7829=)
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.2354A>G (p.His785Arg) rs370296542
NM_001271208.2(NEB):c.23582A>G (p.Asn7861Ser) rs143602832
NM_001271208.2(NEB):c.23602_23604GTT[1] (p.Val7869del) rs1553601408
NM_001271208.2(NEB):c.23615C>T (p.Thr7872Met)
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.23701G>A (p.Gly7901Arg) rs1480807112
NM_001271208.2(NEB):c.23714A>T (p.Glu7905Val)
NM_001271208.2(NEB):c.23743_23745del (p.His7915del) rs1553598770
NM_001271208.2(NEB):c.23753C>T (p.Ser7918Leu) rs202191938
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.23903T>C (p.Ile7968Thr)
NM_001271208.2(NEB):c.23917C>T (p.Arg7973Cys)
NM_001271208.2(NEB):c.23945T>G (p.Leu7982Trp) rs200559481
NM_001271208.2(NEB):c.23953_23955del (p.Glu7985del) rs1553576655
NM_001271208.2(NEB):c.23977_23979dup (p.Thr7993dup) rs764993333
NM_001271208.2(NEB):c.23_25AGG[1] (p.Glu9del) rs1553711235
NM_001271208.2(NEB):c.24010C>T (p.Arg8004Cys) rs201419564
NM_001271208.2(NEB):c.24015_24018dup (p.Glu8007fs) rs761694639
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
NM_001271208.2(NEB):c.24034-1_24035dup rs1427250696
NM_001271208.2(NEB):c.24034-2A>C rs1553569122
NM_001271208.2(NEB):c.24034-7CA[2] rs1217738625
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.24091G>A (p.Glu8031Lys) rs1202510810
NM_001271208.2(NEB):c.24094C>T (p.Arg8032Ter) rs549794342
NM_001271208.2(NEB):c.24104_24107TCAA[1] (p.Asn8036fs) rs1553568447
NM_001271208.2(NEB):c.24117_24119dup (p.Phe8040dup) rs1553568381
NM_001271208.2(NEB):c.24119_24120dup (p.Ser8041fs) rs1553568357
NM_001271208.2(NEB):c.24125C>T (p.Ser8042Leu) rs763365852
NM_001271208.2(NEB):c.24146T>C (p.Val8049Ala) rs200269437
NM_001271208.2(NEB):c.2415+2dup rs1553567814
NM_001271208.2(NEB):c.2415+6T>C rs760614044
NM_001271208.2(NEB):c.2415T>C (p.Asp805=) rs566989836
NM_001271208.2(NEB):c.24200A>G (p.Asn8067Ser) rs946188918
NM_001271208.2(NEB):c.24201T>G (p.Asn8067Lys)
NM_001271208.2(NEB):c.24219G>T (p.Ser8073=)
NM_001271208.2(NEB):c.24220-151C>A
NM_001271208.2(NEB):c.24220G>T (p.Val8074Leu)
NM_001271208.2(NEB):c.24263T>C (p.Ile8088Thr)
NM_001271208.2(NEB):c.24276G>T (p.Met8092Ile)
NM_001271208.2(NEB):c.24312G>A (p.Ser8104=) rs763193315
NM_001271208.2(NEB):c.24315_24317dup (p.Leu8106dup) rs781667543
NM_001271208.2(NEB):c.24367_24369dup (p.Met8123dup) rs769252768
NM_001271208.2(NEB):c.2437G>A (p.Glu813Lys)
NM_001271208.2(NEB):c.24380A>G (p.Lys8127Arg)
NM_001271208.2(NEB):c.24398T>C (p.Ile8133Thr)
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.24408_24410dup (p.Leu8137dup) rs1344099907
NM_001271208.2(NEB):c.24411A>C (p.Leu8137Phe) rs1217235799
NM_001271208.2(NEB):c.24455C>T (p.Pro8152Leu) rs541150975
NM_001271208.2(NEB):c.24460_24462dup (p.Met8154dup) rs942843328
NM_001271208.2(NEB):c.24463G>A (p.Glu8155Lys)
NM_001271208.2(NEB):c.24480_24482dup (p.Gln8161_Glu8162insHis) rs1372551649
NM_001271208.2(NEB):c.24487A>G (p.Asn8163Asp)
NM_001271208.2(NEB):c.24491_24493dup (p.Ile8164dup) rs767474018
NM_001271208.2(NEB):c.244A>G (p.Met82Val) rs587780398
NM_001271208.2(NEB):c.24554T>C (p.Met8185Thr) rs774559645
NM_001271208.2(NEB):c.24559C>G (p.Arg8187Gly)
NM_001271208.2(NEB):c.24577_24579del (p.Glu8193del) rs1553544463
NM_001271208.2(NEB):c.24590C>T (p.Ser8197Leu)
NM_001271208.2(NEB):c.2459T>G (p.Phe820Cys) rs200664592
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.24625G>A (p.Ala8209Thr) rs199937246
NM_001271208.2(NEB):c.24662G>A (p.Arg8221His)
NM_001271208.2(NEB):c.24684G>C (p.Ser8228=)
NM_001271208.2(NEB):c.24741G>A (p.Met8247Ile)
NM_001271208.2(NEB):c.24745A>G (p.Arg8249Gly) rs772803200
NM_001271208.2(NEB):c.24755G>A (p.Arg8252His)
NM_001271208.2(NEB):c.24776C>T (p.Ser8259Leu) rs746031384
NM_001271208.2(NEB):c.24812C>T (p.Pro8271Leu)
NM_001271208.2(NEB):c.24815C>T (p.Thr8272Ile)
NM_001271208.2(NEB):c.24834G>A (p.Met8278Ile)
NM_001271208.2(NEB):c.24847C>T (p.Arg8283Cys) rs748561855
NM_001271208.2(NEB):c.24848G>A (p.Arg8283His)
NM_001271208.2(NEB):c.2485C>G (p.Leu829Val)
NM_001271208.2(NEB):c.24862A>G (p.Ile8288Val) rs551649582
NM_001271208.2(NEB):c.24917C>T (p.Ala8306Val)
NM_001271208.2(NEB):c.24947G>A (p.Arg8316Gln)
NM_001271208.2(NEB):c.24978G>A (p.Thr8326=)
NM_001271208.2(NEB):c.24979-8C>T
NM_001271208.2(NEB):c.24988_24990del (p.His8330del) rs1553527955
NM_001271208.2(NEB):c.25002G>C (p.Glu8334Asp) rs202145313
NM_001271208.2(NEB):c.25024C>A (p.Pro8342Thr) rs886054927
NM_001271208.2(NEB):c.25059_25061GAA[1] (p.Lys8354del) rs755822172
NM_001271208.2(NEB):c.2510A>G (p.Lys837Arg) rs189623595
NM_001271208.2(NEB):c.25112T>C (p.Val8371Ala)
NM_001271208.2(NEB):c.25115T>G (p.Val8372Gly)
NM_001271208.2(NEB):c.25133G>A (p.Arg8378Gln) rs886054926
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.25160C>T (p.Thr8387Ile)
NM_001271208.2(NEB):c.25169G>A (p.Arg8390His) rs778972474
NM_001271208.2(NEB):c.25178G>A (p.Arg8393His)
NM_001271208.2(NEB):c.25194G>A (p.Ser8398=) rs766453942
NM_001271208.2(NEB):c.25212A>G (p.Pro8404=) rs763433145
NM_001271208.2(NEB):c.25235G>A (p.Arg8412Gln) rs369174368
NM_001271208.2(NEB):c.25255+3G>A
NM_001271208.2(NEB):c.25267C>T (p.Arg8423Cys)
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.25276C>T (p.Arg8426Trp)
NM_001271208.2(NEB):c.25277G>A (p.Arg8426Gln) rs749034995
NM_001271208.2(NEB):c.25287_25292del (p.Arg8430_Ser8431del) rs1553520388
NM_001271208.2(NEB):c.25289G>A (p.Arg8430Gln)
NM_001271208.2(NEB):c.25308_25309inv (p.Ile8437Val)
NM_001271208.2(NEB):c.25319del (p.Gly8440fs) rs1553520266
NM_001271208.2(NEB):c.25324G>A (p.Glu8442Lys)
NM_001271208.2(NEB):c.2533A>G (p.Lys845Glu)
NM_001271208.2(NEB):c.25361T>C (p.Leu8454Pro) rs370819880
NM_001271208.2(NEB):c.25363T>C (p.Ser8455Pro) rs886054925
NM_001271208.2(NEB):c.2540A>G (p.Asp847Gly) rs375894183
NM_001271208.2(NEB):c.25450_25452del (p.Ser8484del) rs1553519071
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.25510-1G>C rs1553508368
NM_001271208.2(NEB):c.25519C>T (p.Arg8507Cys) rs542706227
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.25603G>A (p.Asp8535Asn)
NM_001271208.2(NEB):c.25606G>T (p.Glu8536Ter) rs1304300842
NM_001271208.2(NEB):c.25613G>A (p.Trp8538Ter) rs1206080778
NM_001271208.2(NEB):c.25639G>A (p.Gly8547Ser)
NM_001271208.2(NEB):c.25639_25640insTATGCACTGTGCAGAGGACTG (p.Gly8547_Arg8548insValCysThrValGlnArgThr) rs1211056097
NM_001271208.2(NEB):c.25648G>T (p.Gly8550Ter) rs776932788
NM_001271208.2(NEB):c.25649del (p.Gly8550fs) rs1205824305
NM_001271208.2(NEB):c.25660G>A (p.Ala8554Thr)
NM_001271208.2(NEB):c.25669G>A (p.Val8557Ile) rs117861109
NM_001271208.2(NEB):c.25678A>G (p.Ile8560Val)
NM_001271208.2(NEB):c.2569G>A (p.Gly857Arg) rs1559253666
NM_001271208.2(NEB):c.2573C>T (p.Ala858Val) rs372217127
NM_001271208.2(NEB):c.2579G>A (p.Ser860Asn) rs1368018193
NM_001271208.2(NEB):c.2630A>G (p.Gln877Arg) rs373892420
NM_001271208.2(NEB):c.2630A>T (p.Gln877Leu)
NM_001271208.2(NEB):c.2639G>A (p.Arg880His) rs202026890
NM_001271208.2(NEB):c.2739C>T (p.Ser913=) rs185674525
NM_001271208.2(NEB):c.2755C>G (p.His919Asp) rs373168257
NM_001271208.2(NEB):c.2762T>C (p.Leu921Ser)
NM_001271208.2(NEB):c.2771A>C (p.Tyr924Ser) rs199903114
NM_001271208.2(NEB):c.2823G>A (p.Ala941=) rs376849181
NM_001271208.2(NEB):c.2875_2877del (p.Cys959del) rs766232587
NM_001271208.2(NEB):c.2909A>T (p.Glu970Val)
NM_001271208.2(NEB):c.2923G>A (p.Ala975Thr) rs917645712
NM_001271208.2(NEB):c.293C>T (p.Pro98Leu)
NM_001271208.2(NEB):c.2940T>C (p.Asn980=)
NM_001271208.2(NEB):c.2943G>A (p.Glu981=) rs398124170
NM_001271208.2(NEB):c.2957A>G (p.Gln986Arg) rs781465553
NM_001271208.2(NEB):c.2987T>C (p.Ile996Thr) rs753691207
NM_001271208.2(NEB):c.2998C>T (p.Pro1000Ser)
NM_001271208.2(NEB):c.3007G>C (p.Val1003Leu) rs149471462
NM_001271208.2(NEB):c.3022A>G (p.Asn1008Asp)
NM_001271208.2(NEB):c.3094C>T (p.Pro1032Ser) rs544334101
NM_001271208.2(NEB):c.3127_3129dup (p.Asn1043dup) rs1288870299
NM_001271208.2(NEB):c.3154T>C (p.Tyr1052His) rs1553539456
NM_001271208.2(NEB):c.3155A>G (p.Tyr1052Cys)
NM_001271208.2(NEB):c.3203C>T (p.Thr1068Ile) rs769233880
NM_001271208.2(NEB):c.3209C>T (p.Ala1070Val)
NM_001271208.2(NEB):c.3211A>C (p.Ile1071Leu) rs35194393
NM_001271208.2(NEB):c.3218_3226dup (p.Ala1076_Lys1077insValArgAla) rs1553539039
NM_001271208.2(NEB):c.3221_3229dup (p.Arg1074_Ala1076dup) rs1553539015
NM_001271208.2(NEB):c.3235G>T (p.Ala1079Ser)
NM_001271208.2(NEB):c.3245C>T (p.Ala1082Val)
NM_001271208.2(NEB):c.3255+2dup rs1276026682
NM_001271208.2(NEB):c.3255C>T (p.Asp1085=) rs368625295
NM_001271208.2(NEB):c.3352G>T (p.Ala1118Ser) rs1225381477
NM_001271208.2(NEB):c.3362A>G (p.Gln1121Arg) rs1559152642
NM_001271208.2(NEB):c.3373G>C (p.Glu1125Gln) rs757784515
NM_001271208.2(NEB):c.3397A>G (p.Thr1133Ala)
NM_001271208.2(NEB):c.3399A>G (p.Thr1133=) rs543961404
NM_001271208.2(NEB):c.3416C>T (p.Thr1139Met) rs181244403
NM_001271208.2(NEB):c.3424G>A (p.Asp1142Asn)
NM_001271208.2(NEB):c.3425A>T (p.Asp1142Val) rs370976402
NM_001271208.2(NEB):c.3439G>A (p.Val1147Met) rs757659868
NM_001271208.2(NEB):c.3443C>A (p.Ala1148Glu) rs200637566
NM_001271208.2(NEB):c.3443C>T (p.Ala1148Val) rs200637566
NM_001271208.2(NEB):c.3444G>A (p.Ala1148=) rs375569766
NM_001271208.2(NEB):c.3491C>A (p.Ser1164Tyr)
NM_001271208.2(NEB):c.3520G>A (p.Ala1174Thr)
NM_001271208.2(NEB):c.3545_3547del (p.Asn1182del) rs1553534580
NM_001271208.2(NEB):c.3547A>G (p.Met1183Val)
NM_001271208.2(NEB):c.355A>G (p.Thr119Ala)
NM_001271208.2(NEB):c.3567+3_3567+6del rs1553534336
NM_001271208.2(NEB):c.3571G>A (p.Val1191Ile)
NM_001271208.2(NEB):c.3593A>G (p.Asn1198Ser) rs146616621
NM_001271208.2(NEB):c.3623T>C (p.Ile1208Thr) rs201141958
NM_001271208.2(NEB):c.3634G>A (p.Asp1212Asn)
NM_001271208.2(NEB):c.3637G>A (p.Val1213Ile) rs202124287
NM_001271208.2(NEB):c.3658G>A (p.Gly1220Ser)
NM_001271208.2(NEB):c.3676_3678AAG[1] (p.Lys1227del) rs1553532187
NM_001271208.2(NEB):c.367C>T (p.Arg123Cys) rs200555425
NM_001271208.2(NEB):c.368G>A (p.Arg123His)
NM_001271208.2(NEB):c.3694C>G (p.Pro1232Ala) rs776796255
NM_001271208.2(NEB):c.3713C>T (p.Thr1238Ile)
NM_001271208.2(NEB):c.3716G>T (p.Ser1239Ile) rs201541240
NM_001271208.2(NEB):c.3721G>T (p.Val1241Leu) rs537769519
NM_001271208.2(NEB):c.3758C>T (p.Thr1253Met) rs767433330
NM_001271208.2(NEB):c.3759_3773del (p.Lys1254_Asp1258del) rs1553531184
NM_001271208.2(NEB):c.3776T>C (p.Ile1259Thr) rs1553522143
NM_001271208.2(NEB):c.3788C>A (p.Ala1263Asp)
NM_001271208.2(NEB):c.3795_3797AGA[1] (p.Glu1266del) rs1553522046
NM_001271208.2(NEB):c.3815A>G (p.Tyr1272Cys)
NM_001271208.2(NEB):c.3874A>G (p.Ser1292Gly) rs1553521537
NM_001271208.2(NEB):c.3879+8G>A rs376511134
NM_001271208.2(NEB):c.394C>T (p.Leu132Phe)
NM_001271208.2(NEB):c.3964G>T (p.Ala1322Ser) rs376611641
NM_001271208.2(NEB):c.3986A>C (p.Asp1329Ala) rs115986826
NM_001271208.2(NEB):c.403G>A (p.Val135Ile) rs373729655
NM_001271208.2(NEB):c.4046T>C (p.Leu1349Pro)
NM_001271208.2(NEB):c.4072T>C (p.Tyr1358His) rs377054979
NM_001271208.2(NEB):c.4102C>T (p.Arg1368Cys)
NM_001271208.2(NEB):c.4103G>A (p.Arg1368His)
NM_001271208.2(NEB):c.4105G>A (p.Glu1369Lys) rs779213215
NM_001271208.2(NEB):c.4109A>G (p.Tyr1370Cys) rs1230970164
NM_001271208.2(NEB):c.4119C>G (p.Asn1373Lys) rs377653217
NM_001271208.2(NEB):c.413G>A (p.Arg138Gln)
NM_001271208.2(NEB):c.4149C>T (p.Thr1383=) rs148794372
NM_001271208.2(NEB):c.4166G>A (p.Ser1389Asn)
NM_001271208.2(NEB):c.4198G>A (p.Ala1400Thr) rs113174390
NM_001271208.2(NEB):c.4204A>G (p.Asn1402Asp)
NM_001271208.2(NEB):c.422G>A (p.Gly141Asp) rs973669056
NM_001271208.2(NEB):c.422G>T (p.Gly141Val)
NM_001271208.2(NEB):c.4244T>A (p.Leu1415Gln)
NM_001271208.2(NEB):c.426T>A (p.Asp142Glu) rs200590080
NM_001271208.2(NEB):c.4271C>T (p.Thr1424Met)
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.4337G>T (p.Gly1446Val) rs541803470
NM_001271208.2(NEB):c.4372G>A (p.Glu1458Lys) rs1559073472
NM_001271208.2(NEB):c.4392C>T (p.Gly1464=)
NM_001271208.2(NEB):c.4413G>A (p.Lys1471=)
NM_001271208.2(NEB):c.4432A>G (p.Thr1478Ala)
NM_001271208.2(NEB):c.4463T>C (p.Met1488Thr)
NM_001271208.2(NEB):c.4469T>C (p.Met1490Thr) rs554984749
NM_001271208.2(NEB):c.4471G>T (p.Val1491Leu) rs7426114
NM_001271208.2(NEB):c.4481A>G (p.Gln1494Arg)
NM_001271208.2(NEB):c.448G>A (p.Val150Ile) rs376288418
NM_001271208.2(NEB):c.4507-3T>C
NM_001271208.2(NEB):c.4548T>C (p.Tyr1516=)
NM_001271208.2(NEB):c.4555G>A (p.Asp1519Asn)
NM_001271208.2(NEB):c.4595C>A (p.Ala1532Asp) rs1456966310
NM_001271208.2(NEB):c.4612G>C (p.Ala1538Pro)
NM_001271208.2(NEB):c.4649A>G (p.Lys1550Arg) rs114089598
NM_001271208.2(NEB):c.4652G>A (p.Gly1551Asp)
NM_001271208.2(NEB):c.4655A>G (p.Tyr1552Cys)
NM_001271208.2(NEB):c.4664G>A (p.Arg1555Lys) rs183333679
NM_001271208.2(NEB):c.4666C>T (p.Pro1556Ser) rs756692621
NM_001271208.2(NEB):c.475C>T (p.His159Tyr) rs776746330
NM_001271208.2(NEB):c.4789C>T (p.Pro1597Ser)
NM_001271208.2(NEB):c.47A>T (p.Glu16Val) rs748679499
NM_001271208.2(NEB):c.47_49AAG[1] (p.Glu17del) rs760256873
NM_001271208.2(NEB):c.4834C>A (p.Arg1612Ser)
NM_001271208.2(NEB):c.4834C>T (p.Arg1612Cys) rs200545007
NM_001271208.2(NEB):c.4835G>T (p.Arg1612Leu) rs534531948
NM_001271208.2(NEB):c.4843A>G (p.Lys1615Glu)
NM_001271208.2(NEB):c.4894G>A (p.Val1632Ile)
NM_001271208.2(NEB):c.4904C>T (p.Thr1635Ile) rs199662534
NM_001271208.2(NEB):c.491C>T (p.Ser164Leu)
NM_001271208.2(NEB):c.4939G>A (p.Ala1647Thr)
NM_001271208.2(NEB):c.4978C>A (p.Pro1660Thr) rs776231831
NM_001271208.2(NEB):c.4978C>T (p.Pro1660Ser) rs776231831
NM_001271208.2(NEB):c.5029G>A (p.Asp1677Asn)
NM_001271208.2(NEB):c.5031+1G>A rs1553495140
NM_001271208.2(NEB):c.5087T>C (p.Ile1696Thr) rs937014596
NM_001271208.2(NEB):c.5091G>C (p.Glu1697Asp) rs1349969572
NM_001271208.2(NEB):c.5120C>A (p.Ala1707Glu)
NM_001271208.2(NEB):c.5123G>A (p.Gly1708Glu)
NM_001271208.2(NEB):c.5140_5142AAG[1] (p.Lys1715del) rs1553492424
NM_001271208.2(NEB):c.5170_5172del (p.Lys1724del) rs1553492107
NM_001271208.2(NEB):c.5174T>C (p.Phe1725Ser) rs368270996
NM_001271208.2(NEB):c.5177C>T (p.Thr1726Ile)
NM_001271208.2(NEB):c.5181C>T (p.Tyr1727=) rs35016946
NM_001271208.2(NEB):c.5211_5213del (p.Asn1737del) rs1553491789
NM_001271208.2(NEB):c.5224C>T (p.Leu1742=) rs886054947
NM_001271208.2(NEB):c.5300C>T (p.Pro1767Leu) rs370000978
NM_001271208.2(NEB):c.5301G>A (p.Pro1767=) rs150496369
NM_001271208.2(NEB):c.5332A>T (p.Thr1778Ser)
NM_001271208.2(NEB):c.5374A>G (p.Lys1792Glu) rs541641039
NM_001271208.2(NEB):c.5395A>C (p.Arg1799=)
NM_001271208.2(NEB):c.5410G>A (p.Ala1804Thr) rs369275207
NM_001271208.2(NEB):c.5411C>A (p.Ala1804Glu) rs78420579
NM_001271208.2(NEB):c.5420C>T (p.Ala1807Val) rs373790988
NM_001271208.2(NEB):c.5434A>G (p.Arg1812Gly)
NM_001271208.2(NEB):c.5444C>G (p.Ala1815Gly)
NM_001271208.2(NEB):c.5495T>C (p.Ile1832Thr) rs751494785
NM_001271208.2(NEB):c.54_56dup (p.Val19dup) rs1553702754
NM_001271208.2(NEB):c.5503C>T (p.Arg1835Trp) rs199694315
NM_001271208.2(NEB):c.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)
NM_001271208.2(NEB):c.5581G>A (p.Gly1861Arg)
NM_001271208.2(NEB):c.5612C>A (p.Thr1871Asn)
NM_001271208.2(NEB):c.5616G>A (p.Pro1872=) rs368371414
NM_001271208.2(NEB):c.5623A>G (p.Met1875Val) rs201940342
NM_001271208.2(NEB):c.5656G>A (p.Glu1886Lys) rs746761562
NM_001271208.2(NEB):c.5671G>A (p.Ala1891Thr) rs1553484895
NM_001271208.2(NEB):c.5680A>G (p.Arg1894Gly) rs150961139
NM_001271208.2(NEB):c.5696C>T (p.Thr1899Ile) rs202234374
NM_001271208.2(NEB):c.5698_5703del (p.Tyr1900_Asn1901del) rs775531807
NM_001271208.2(NEB):c.5763+15C>T rs148455519
NM_001271208.2(NEB):c.5763+5G>A rs776167256
NM_001271208.2(NEB):c.5768A>G (p.Gln1923Arg) rs755003638
NM_001271208.2(NEB):c.5801G>A (p.Gly1934Asp) rs763717355
NM_001271208.2(NEB):c.5806G>A (p.Gly1936Arg)
NM_001271208.2(NEB):c.5828T>A (p.Leu1943Gln)
NM_001271208.2(NEB):c.5849A>G (p.Lys1950Arg) rs758655350
NM_001271208.2(NEB):c.5853C>A (p.Ala1951=)
NM_001271208.2(NEB):c.5854A>G (p.Met1952Val) rs200649387
NM_001271208.2(NEB):c.585C>G (p.Ala195=) rs374538366
NM_001271208.2(NEB):c.5912C>T (p.Thr1971Ile) rs762592136
NM_001271208.2(NEB):c.5939T>C (p.Leu1980Ser) rs375412223
NM_001271208.2(NEB):c.5945A>C (p.Gln1982Pro) rs1212716508
NM_001271208.2(NEB):c.6020T>C (p.Met2007Thr) rs199862790
NM_001271208.2(NEB):c.6046G>C (p.Ala2016Pro) rs1558927613
NM_001271208.2(NEB):c.605_607del (p.Phe202_Ser203delinsCys) rs1553687045
NM_001271208.2(NEB):c.6067A>G (p.Met2023Val) rs779481792
NM_001271208.2(NEB):c.6085A>C (p.Lys2029Gln)
NM_001271208.2(NEB):c.6097G>A (p.Glu2033Lys) rs956309067
NM_001271208.2(NEB):c.6119A>G (p.Tyr2040Cys) rs756926807
NM_001271208.2(NEB):c.6127A>G (p.Arg2043Gly) rs1321911647
NM_001271208.2(NEB):c.6135T>C (p.Asp2045=) rs886042654
NM_001271208.2(NEB):c.6145A>G (p.Ile2049Val)
NM_001271208.2(NEB):c.6175G>A (p.Ala2059Thr) rs369215974
NM_001271208.2(NEB):c.6195_6200del (p.2063_2064KY[1]) rs767681176
NM_001271208.2(NEB):c.61G>A (p.Glu21Lys) rs199907781
NM_001271208.2(NEB):c.6227T>A (p.Val2076Asp)
NM_001271208.2(NEB):c.6235C>T (p.Arg2079Cys)
NM_001271208.2(NEB):c.6244G>A (p.Glu2082Lys)
NM_001271208.2(NEB):c.6262G>A (p.Val2088Ile)
NM_001271208.2(NEB):c.6299G>A (p.Arg2100Gln) rs752836728
NM_001271208.2(NEB):c.6323A>G (p.Asn2108Ser) rs1558891493
NM_001271208.2(NEB):c.6325A>G (p.Thr2109Ala) rs578023308
NM_001271208.2(NEB):c.6369G>A (p.Thr2123=) rs540542570
NM_001271208.2(NEB):c.6381T>A (p.Asp2127Glu) rs368302286
NM_001271208.2(NEB):c.6392A>T (p.Asn2131Ile) rs781202038
NM_001271208.2(NEB):c.6400A>G (p.Asn2134Asp) rs751935179
NM_001271208.2(NEB):c.642C>A (p.Asp214Glu) rs373133009
NM_001271208.2(NEB):c.6449C>T (p.Ala2150Val) rs375256600
NM_001271208.2(NEB):c.6481C>T (p.Arg2161Cys)
NM_001271208.2(NEB):c.6482G>A (p.Arg2161His)
NM_001271208.2(NEB):c.6488A>G (p.Gln2163Arg) rs200813844
NM_001271208.2(NEB):c.6493G>C (p.Asp2165His)
NM_001271208.2(NEB):c.6505A>G (p.Lys2169Glu) rs752328965
NM_001271208.2(NEB):c.6513T>C (p.Asp2171=) rs376535906
NM_001271208.2(NEB):c.6554G>T (p.Gly2185Val)
NM_001271208.2(NEB):c.6591A>G (p.Glu2197=) rs1553462437
NM_001271208.2(NEB):c.6598A>G (p.Ser2200Gly) rs1553462412
NM_001271208.2(NEB):c.6624G>A (p.Pro2208=)
NM_001271208.2(NEB):c.662A>G (p.Tyr221Cys) rs571230045
NM_001271208.2(NEB):c.6660G>A (p.Met2220Ile) rs199766131
NM_001271208.2(NEB):c.6704A>C (p.His2235Pro) rs372800812
NM_001271208.2(NEB):c.6719A>G (p.Asp2240Gly) rs1362776689
NM_001271208.2(NEB):c.6732T>G (p.Asp2244Glu)
NM_001271208.2(NEB):c.6799_6804del (p.Tyr2267_Ser2268del) rs1209177139
NM_001271208.2(NEB):c.6815A>G (p.Tyr2272Cys)
NM_001271208.2(NEB):c.6817A>G (p.Lys2273Glu) rs199700878
NM_001271208.2(NEB):c.6869C>T (p.Ala2290Val) rs756114192
NM_001271208.2(NEB):c.6873T>G (p.Ile2291Met)
NM_001271208.2(NEB):c.6893C>T (p.Ala2298Val) rs1280388530
NM_001271208.2(NEB):c.6916-16_6916-8del
NM_001271208.2(NEB):c.6956_6967del (p.His2319_Phe2322del) rs1553449735
NM_001271208.2(NEB):c.6961G>A (p.Gly2321Arg)
NM_001271208.2(NEB):c.6968G>A (p.Arg2323Gln)
NM_001271208.2(NEB):c.7016A>G (p.Lys2339Arg)
NM_001271208.2(NEB):c.7025G>T (p.Ser2342Ile) rs372132667
NM_001271208.2(NEB):c.7102C>G (p.Leu2368Val) rs1553449170
NM_001271208.2(NEB):c.7120_7122dup (p.Glu2374dup) rs1553449134
NM_001271208.2(NEB):c.7126G>C (p.Val2376Leu) rs141155976
NM_001271208.2(NEB):c.7135_7140del (p.Val2379_Asp2380del) rs1326831435
NM_001271208.2(NEB):c.7176T>C (p.Pro2392=) rs1042667385
NM_001271208.2(NEB):c.71C>T (p.Pro24Leu) rs185496567
NM_001271208.2(NEB):c.7227+13T>G rs373818296
NM_001271208.2(NEB):c.7228-5C>T rs773213959
NM_001271208.2(NEB):c.7233A>G (p.Leu2411=)
NM_001271208.2(NEB):c.7235A>G (p.Tyr2412Cys)
NM_001271208.2(NEB):c.7246C>G (p.Leu2416Val)
NM_001271208.2(NEB):c.7252T>A (p.Trp2418Arg) rs780437384
NM_001271208.2(NEB):c.7309C>T (p.Arg2437Trp) rs375164626
NM_001271208.2(NEB):c.7324A>G (p.Ile2442Val) rs1553447698
NM_001271208.2(NEB):c.7342C>T (p.Arg2448Cys) rs576076237
NM_001271208.2(NEB):c.7343G>A (p.Arg2448His) rs373589529
NM_001271208.2(NEB):c.7387A>T (p.Met2463Leu)
NM_001271208.2(NEB):c.739G>A (p.Ala247Thr)
NM_001271208.2(NEB):c.7441A>G (p.Arg2481Gly) rs149430473
NM_001271208.2(NEB):c.7469A>C (p.Gln2490Pro) rs1446110323
NM_001271208.2(NEB):c.7487A>G (p.Asp2496Gly)
NM_001271208.2(NEB):c.7537-3C>A rs886054946
NM_001271208.2(NEB):c.7549A>G (p.Met2517Val) rs577856870
NM_001271208.2(NEB):c.7549_7551del (p.Met2517del) rs1553985641
NM_001271208.2(NEB):c.7581C>T (p.Tyr2527=) rs200425929
NM_001271208.2(NEB):c.7582G>A (p.Asp2528Asn) rs369496057
NM_001271208.2(NEB):c.761C>T (p.Thr254Met) rs376835458
NM_001271208.2(NEB):c.7623C>T (p.Ala2541=)
NM_001271208.2(NEB):c.7627C>T (p.Arg2543Trp)
NM_001271208.2(NEB):c.7628G>A (p.Arg2543Gln) rs758589097
NM_001271208.2(NEB):c.7644A>G (p.Glu2548=) rs916950454
NM_001271208.2(NEB):c.7645-14T>C rs886054945
NM_001271208.2(NEB):c.7646A>G (p.Tyr2549Cys) rs1553984101
NM_001271208.2(NEB):c.764C>G (p.Pro255Arg) rs1553663195
NM_001271208.2(NEB):c.7691G>T (p.Gly2564Val)
NM_001271208.2(NEB):c.771_772inv (p.Asp258Asn)
NM_001271208.2(NEB):c.772G>A (p.Asp258Asn) rs267598926
NM_001271208.2(NEB):c.7740G>A (p.Val2580=)
NM_001271208.2(NEB):c.7758C>T (p.Asp2586=)
NM_001271208.2(NEB):c.7761G>C (p.Arg2587Ser) rs869312958
NM_001271208.2(NEB):c.7778T>C (p.Phe2593Ser)
NM_001271208.2(NEB):c.778C>T (p.Pro260Ser)
NM_001271208.2(NEB):c.7864G>A (p.Val2622Met) rs905660353
NM_001271208.2(NEB):c.7865T>G (p.Val2622Gly) rs563691738
NM_001271208.2(NEB):c.7867G>A (p.Asp2623Asn)
NM_001271208.2(NEB):c.7875G>A (p.Lys2625=) rs577894144
NM_001271208.2(NEB):c.7896A>G (p.Thr2632=) rs377015178
NM_001271208.2(NEB):c.78G>A (p.Glu26=) rs1553702617
NM_001271208.2(NEB):c.7906G>A (p.Asp2636Asn) rs760643814
NM_001271208.2(NEB):c.7913_7914delinsAT (p.Ser2638Asn)
NM_001271208.2(NEB):c.7953C>T (p.Ser2651=) rs183764569
NM_001271208.2(NEB):c.7956+4A>G rs886054944
NM_001271208.2(NEB):c.7964A>G (p.Tyr2655Cys)
NM_001271208.2(NEB):c.7983G>T (p.Trp2661Cys)
NM_001271208.2(NEB):c.8020G>A (p.Glu2674Lys) rs369224273
NM_001271208.2(NEB):c.8024A>G (p.Asp2675Gly) rs183354017
NM_001271208.2(NEB):c.8035A>G (p.Lys2679Glu)
NM_001271208.2(NEB):c.8039G>A (p.Arg2680Gln) rs201746137
NM_001271208.2(NEB):c.8071C>T (p.Arg2691Cys) rs202044707
NM_001271208.2(NEB):c.8101A>G (p.Ser2701Gly)
NM_001271208.2(NEB):c.8104C>T (p.Leu2702Phe)
NM_001271208.2(NEB):c.8111A>C (p.Asp2704Ala)
NM_001271208.2(NEB):c.8125G>A (p.Val2709Ile) rs368637389
NM_001271208.2(NEB):c.8146A>G (p.Ile2716Val)
NM_001271208.2(NEB):c.8152A>T (p.Met2718Leu) rs767511888
NM_001271208.2(NEB):c.8161C>T (p.Arg2721Cys)
NM_001271208.2(NEB):c.8162G>A (p.Arg2721His) rs753996512
NM_001271208.2(NEB):c.8203C>G (p.His2735Asp)
NM_001271208.2(NEB):c.8315T>G (p.Met2772Arg)
NM_001271208.2(NEB):c.8335A>T (p.Ile2779Phe) rs114853127
NM_001271208.2(NEB):c.8341G>T (p.Ala2781Ser) rs1160244999
NM_001271208.2(NEB):c.834_836AGA[1] (p.Glu279del) rs1553642771
NM_001271208.2(NEB):c.8356A>G (p.Arg2786Gly) rs201747395
NM_001271208.2(NEB):c.8381A>T (p.Tyr2794Phe)
NM_001271208.2(NEB):c.8393A>G (p.Tyr2798Cys)
NM_001271208.2(NEB):c.8467G>A (p.Val2823Met)
NM_001271208.2(NEB):c.8469G>A (p.Val2823=)
NM_001271208.2(NEB):c.8490G>A (p.Arg2830=) rs368217121
NM_001271208.2(NEB):c.8497_8499AAG[1] (p.Lys2834del) rs764523437
NM_001271208.2(NEB):c.8537C>T (p.Pro2846Leu)
NM_001271208.2(NEB):c.8554G>T (p.Val2852Leu)
NM_001271208.2(NEB):c.8598C>G (p.Asp2866Glu) rs1553966356
NM_001271208.2(NEB):c.8635G>A (p.Asp2879Asn)
NM_001271208.2(NEB):c.8644G>A (p.Asp2882Asn) rs200729207
NM_001271208.2(NEB):c.8647G>A (p.Val2883Ile) rs369283016
NM_001271208.2(NEB):c.8660G>A (p.Arg2887Gln)
NM_001271208.2(NEB):c.8682C>A (p.Ser2894Arg) rs373799650
NM_001271208.2(NEB):c.8690T>C (p.Met2897Thr) rs747466015
NM_001271208.2(NEB):c.8733_8734inv (p.Ser2912Pro)
NM_001271208.2(NEB):c.8738T>C (p.Ile2913Thr) rs368373064
NM_001271208.2(NEB):c.8753T>G (p.Val2918Gly)
NM_001271208.2(NEB):c.877C>T (p.Pro293Ser) rs200672688
NM_001271208.2(NEB):c.8796C>A (p.Ile2932=) rs886054943
NM_001271208.2(NEB):c.8801G>A (p.Arg2934His) rs200307392
NM_001271208.2(NEB):c.8864A>G (p.Lys2955Arg)
NM_001271208.2(NEB):c.8873C>T (p.Ala2958Val) rs768058972
NM_001271208.2(NEB):c.8880_8882del (p.Met2961del) rs1553964000
NM_001271208.2(NEB):c.8897A>G (p.Tyr2966Cys) rs1560822452
NM_001271208.2(NEB):c.8968A>G (p.Arg2990Gly) rs765940770
NM_001271208.2(NEB):c.8978A>G (p.Lys2993Arg) rs138217855
NM_001271208.2(NEB):c.9002A>G (p.Tyr3001Cys)
NM_001271208.2(NEB):c.9007C>G (p.Leu3003Val) rs1415513452
NM_001271208.2(NEB):c.9047G>A (p.Arg3016Gln) rs373587647
NM_001271208.2(NEB):c.904A>G (p.Met302Val)
NM_001271208.2(NEB):c.9053_9067del (p.Asp3018_Ile3022del) rs1165631470
NM_001271208.2(NEB):c.9055G>A (p.Ala3019Thr) rs370738668
NM_001271208.2(NEB):c.9067G>A (p.Val3023Met)
NM_001271208.2(NEB):c.9112A>G (p.Lys3038Glu)
NM_001271208.2(NEB):c.9125G>A (p.Cys3042Tyr)
NM_001271208.2(NEB):c.9139C>A (p.His3047Asn) rs147168910
NM_001271208.2(NEB):c.9178A>G (p.Met3060Val) rs538524863
NM_001271208.2(NEB):c.9329A>G (p.Tyr3110Cys) rs778306283
NM_001271208.2(NEB):c.934T>C (p.Tyr312His)
NM_001271208.2(NEB):c.9352A>T (p.Thr3118Ser) rs543100735
NM_001271208.2(NEB):c.9373G>A (p.Asp3125Asn)
NM_001271208.2(NEB):c.9383A>G (p.His3128Arg)
NM_001271208.2(NEB):c.938A>G (p.Gln313Arg) rs1559506055
NM_001271208.2(NEB):c.9425A>G (p.Lys3142Arg) rs771774138
NM_001271208.2(NEB):c.9467T>C (p.Ile3156Thr)
NM_001271208.2(NEB):c.9473C>G (p.Ser3158Cys) rs377606986
NM_001271208.2(NEB):c.9481G>A (p.Val3161Met) rs1560693635
NM_001271208.2(NEB):c.9542A>C (p.Asp3181Ala) rs767042929
NM_001271208.2(NEB):c.9578A>G (p.Glu3193Gly) rs369985728
NM_001271208.2(NEB):c.9587T>G (p.Leu3196Arg) rs754001835
NM_001271208.2(NEB):c.9590C>T (p.Ala3197Val) rs778131603
NM_001271208.2(NEB):c.9619C>T (p.Arg3207Cys) rs200351671
NM_001271208.2(NEB):c.9620G>A (p.Arg3207His) rs111841612
NM_001271208.2(NEB):c.9620G>T (p.Arg3207Leu)
NM_001271208.2(NEB):c.9631G>A (p.Glu3211Lys)
NM_001271208.2(NEB):c.9659T>G (p.Ile3220Ser)
NM_001271208.2(NEB):c.9689T>C (p.Met3230Thr) rs760551196
NM_001271208.2(NEB):c.9694G>T (p.Ala3232Ser) rs1329330602
NM_001271208.2(NEB):c.9743A>G (p.Asn3248Ser) rs139548702
NM_001271208.2(NEB):c.9767A>G (p.Tyr3256Cys) rs1365723573
NM_001271208.2(NEB):c.9796G>A (p.Val3266Met) rs564504601
NM_001271208.2(NEB):c.9819_9820insAGG (p.Val3274_Ile3275insArg) rs1553934027
NM_001271208.2(NEB):c.9827G>A (p.Ser3276Asn) rs1168444365
NM_001271208.2(NEB):c.9832-7A>T
NM_001271208.2(NEB):c.9836A>G (p.Lys3279Arg)
NM_001271208.2(NEB):c.9848G>A (p.Gly3283Asp)
NM_001271208.2(NEB):c.984C>T (p.Thr328=) rs199969138
NM_001271208.2(NEB):c.9853C>T (p.Arg3285Cys) rs370572955
NM_001271208.2(NEB):c.9865G>A (p.Gly3289Ser) rs75639119
NM_001271208.2(NEB):c.9866G>A (p.Gly3289Asp)
NM_001271208.2(NEB):c.9878G>C (p.Gly3293Ala) rs199890164
NM_001271208.2(NEB):c.9921G>A (p.Met3307Ile) rs756185799
NM_001271208.2(NEB):c.992C>G (p.Pro331Arg)
NM_001271208.2(NEB):c.994G>A (p.Glu332Lys) rs748518353
NM_004543.5(NEB):c.18826-1350_18826-1348dup rs1553552449

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