NM_000532.5(PCCB):c.654+20T>C
|
rs3821445
|
0.15527
|
NM_000532.5(PCCB):c.546G>A (p.Arg182=)
|
rs61598773
|
0.00533
|
NM_000532.5(PCCB):c.184-12G>T
|
rs181283691
|
0.00185
|
NM_000532.5(PCCB):c.49C>A (p.Leu17Met)
|
rs200185747
|
0.00172
|
NM_000532.5(PCCB):c.774C>G (p.His258Gln)
|
rs141615209
|
0.00163
|
NM_000532.5(PCCB):c.1490C>T (p.Ala497Val)
|
rs142403318
|
0.00162
|
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln)
|
rs150555106
|
0.00158
|
NM_000532.5(PCCB):c.872G>A (p.Cys291Tyr)
|
rs77820367
|
0.00146
|
NM_000532.5(PCCB):c.1299+9C>A
|
rs60968242
|
0.00137
|
NM_000532.5(PCCB):c.138G>C (p.Ala46=)
|
rs145075817
|
0.00126
|
NM_000532.5(PCCB):c.338G>A (p.Arg113Gln)
|
rs138246328
|
0.00116
|
NM_000532.5(PCCB):c.882C>T (p.Pro294=)
|
rs142730126
|
0.00080
|
NM_000532.5(PCCB):c.911C>T (p.Thr304Ile)
|
rs147538201
|
0.00076
|
NM_000532.5(PCCB):c.429+7G>A
|
rs201986472
|
0.00073
|
NM_000532.5(PCCB):c.1421A>G (p.Lys474Arg)
|
rs145628302
|
0.00054
|
NM_000532.5(PCCB):c.763+10C>G
|
rs180982841
|
0.00054
|
NM_000532.5(PCCB):c.603T>C (p.Ala201=)
|
rs141340198
|
0.00050
|
NM_000532.5(PCCB):c.914T>G (p.Ile305Ser)
|
rs144907014
|
0.00040
|
NM_000532.5(PCCB):c.1485T>G (p.Pro495=)
|
rs151094095
|
0.00039
|
NM_000532.5(PCCB):c.180G>A (p.Lys60=)
|
rs140636870
|
0.00031
|
NM_000532.5(PCCB):c.1091-16A>C
|
rs534160449
|
0.00027
|
NM_000532.5(PCCB):c.82C>G (p.Leu28Val)
|
rs141137691
|
0.00026
|
NM_000532.5(PCCB):c.544-5G>C
|
rs372351800
|
0.00022
|
NM_000532.5(PCCB):c.303+8T>A
|
rs199769617
|
0.00021
|
NM_000532.5(PCCB):c.510G>A (p.Val170=)
|
rs1212025973
|
0.00019
|
NM_000532.5(PCCB):c.1399-19T>C
|
rs368309360
|
0.00016
|
NM_000532.5(PCCB):c.1606A>G (p.Asn536Asp)
|
rs202247823
|
0.00016
|
NM_000532.5(PCCB):c.654+3A>C
|
rs199886085
|
0.00014
|
NM_000532.5(PCCB):c.23C>T (p.Ala8Val)
|
rs764602019
|
0.00012
|
NM_000532.5(PCCB):c.250A>G (p.Met84Val)
|
rs201950515
|
0.00012
|
NM_000532.5(PCCB):c.544-20T>C
|
rs370010917
|
0.00011
|
NM_000532.5(PCCB):c.1154A>G (p.Asn385Ser)
|
rs151078515
|
0.00010
|
NM_000532.5(PCCB):c.1299+13T>C
|
rs185352554
|
0.00010
|
NM_000532.5(PCCB):c.555G>A (p.Thr185=)
|
rs543691110
|
0.00010
|
NM_000532.5(PCCB):c.1215C>T (p.Tyr405=)
|
rs191375566
|
0.00009
|
NM_000532.5(PCCB):c.373-18T>C
|
rs775972133
|
0.00009
|
NM_000532.5(PCCB):c.885-4A>C
|
rs535943678
|
0.00009
|
NM_000532.5(PCCB):c.561C>T (p.Ser187=)
|
rs145057852
|
0.00008
|
NM_000532.5(PCCB):c.430-5C>G
|
rs369339939
|
0.00007
|
NM_000532.5(PCCB):c.8C>T (p.Ala3Val)
|
rs373685372
|
0.00007
|
NM_000532.5(PCCB):c.941A>G (p.Tyr314Cys)
|
rs148578333
|
0.00007
|
NM_000532.5(PCCB):c.1198+11G>C
|
rs952515018
|
0.00006
|
NM_000532.5(PCCB):c.1228C>T (p.Arg410Trp)
|
rs121964959
|
0.00006
|
NM_000532.5(PCCB):c.554C>T (p.Thr185Met)
|
rs369612150
|
0.00006
|
NM_000532.5(PCCB):c.641C>T (p.Thr214Met)
|
rs375740942
|
0.00006
|
NM_000532.5(PCCB):c.66C>G (p.Arg22=)
|
rs759836996
|
0.00006
|
NM_000532.5(PCCB):c.707A>G (p.Asn236Ser)
|
rs778955184
|
0.00006
|
NM_000532.5(PCCB):c.744G>C (p.Lys248Asn)
|
rs757845027
|
0.00006
|
NM_000532.5(PCCB):c.818A>T (p.Asp273Val)
|
rs765749691
|
0.00006
|
NM_000532.5(PCCB):c.966+17T>C
|
rs752703797
|
0.00006
|
NM_000532.5(PCCB):c.1127G>A (p.Arg376His)
|
rs142982097
|
0.00005
|
NM_000532.5(PCCB):c.1352C>T (p.Thr451Ile)
|
rs145135400
|
0.00005
|
NM_000532.5(PCCB):c.544-10G>A
|
rs759150582
|
0.00005
|
NM_000532.5(PCCB):c.642G>A (p.Thr214=)
|
rs148056730
|
0.00005
|
NM_000532.5(PCCB):c.683C>T (p.Pro228Leu)
|
rs374722096
|
0.00005
|
NM_000532.5(PCCB):c.1229G>A (p.Arg410Gln)
|
rs778742647
|
0.00004
|
NM_000532.5(PCCB):c.1355A>G (p.Asn452Ser)
|
rs746240889
|
0.00004
|
NM_000532.5(PCCB):c.1371C>T (p.Thr457=)
|
rs140630332
|
0.00004
|
NM_000532.5(PCCB):c.1498+10T>G
|
rs777201996
|
0.00004
|
NM_000532.5(PCCB):c.1499-20C>T
|
rs183824739
|
0.00004
|
NM_000532.5(PCCB):c.1514T>C (p.Ile505Thr)
|
rs1353542774
|
0.00004
|
NM_000532.5(PCCB):c.1541G>A (p.Arg514Gln)
|
rs577625696
|
0.00004
|
NM_000532.5(PCCB):c.163A>G (p.Ile55Val)
|
rs561539546
|
0.00004
|
NM_000532.5(PCCB):c.169G>A (p.Ala57Thr)
|
rs371406048
|
0.00004
|
NM_000532.5(PCCB):c.183+17C>T
|
rs776965589
|
0.00004
|
NM_000532.5(PCCB):c.246C>T (p.Ser82=)
|
rs150449954
|
0.00004
|
NM_000532.5(PCCB):c.306T>G (p.Phe102Leu)
|
rs770601332
|
0.00004
|
NM_000532.5(PCCB):c.372+17A>G
|
rs192106664
|
0.00004
|
NM_000532.5(PCCB):c.402A>G (p.Ser134=)
|
rs200988668
|
0.00004
|
NM_000532.5(PCCB):c.51G>A (p.Leu17=)
|
rs1262464904
|
0.00004
|
NM_000532.5(PCCB):c.613G>A (p.Val205Ile)
|
rs141956198
|
0.00004
|
NM_000532.5(PCCB):c.663C>G (p.Ser221=)
|
rs771455499
|
0.00004
|
NM_000532.5(PCCB):c.764-3T>C
|
rs147939913
|
0.00004
|
NM_000532.5(PCCB):c.950T>A (p.Val317Glu)
|
rs762758029
|
0.00004
|
NM_000532.5(PCCB):c.1087T>C (p.Ser363Pro)
|
rs770341883
|
0.00003
|
NM_000532.5(PCCB):c.1312G>T (p.Ala438Ser)
|
rs752758930
|
0.00003
|
NM_000532.5(PCCB):c.1398+1G>T
|
rs794727092
|
0.00003
|
NM_000532.5(PCCB):c.1399-5C>T
|
rs575227657
|
0.00003
|
NM_000532.5(PCCB):c.1511A>C (p.Asp504Ala)
|
rs1027171385
|
0.00003
|
NM_000532.5(PCCB):c.1569C>G (p.Ala523=)
|
rs1418405958
|
0.00003
|
NM_000532.5(PCCB):c.167A>G (p.Asp56Gly)
|
rs1422527852
|
0.00003
|
NM_000532.5(PCCB):c.372+15C>T
|
rs370726053
|
0.00003
|
NM_000532.5(PCCB):c.450G>A (p.Thr150=)
|
rs749989578
|
0.00003
|
NM_000532.5(PCCB):c.475A>G (p.Asn159Asp)
|
rs373189621
|
0.00003
|
NM_000532.5(PCCB):c.562G>A (p.Gly188Arg)
|
rs746102997
|
0.00003
|
NM_000532.5(PCCB):c.654+12G>T
|
rs770141659
|
0.00003
|
NM_000532.5(PCCB):c.855G>A (p.Pro285=)
|
rs982512877
|
0.00003
|
NM_000532.5(PCCB):c.862G>C (p.Val288Leu)
|
rs201984177
|
0.00003
|
NM_000532.5(PCCB):c.865C>T (p.Arg289Cys)
|
rs771935604
|
0.00003
|
NM_000532.5(PCCB):c.890G>A (p.Arg297His)
|
rs147379583
|
0.00003
|
NM_000532.5(PCCB):c.906T>G (p.Leu302=)
|
rs139600424
|
0.00003
|
NM_000532.5(PCCB):c.967-14A>G
|
rs1011978513
|
0.00003
|
NM_000532.5(PCCB):c.988T>G (p.Phe330Val)
|
rs748708704
|
0.00003
|
NM_000532.5(PCCB):c.1090+18T>C
|
rs775309894
|
0.00002
|
NM_000532.5(PCCB):c.1091-4C>G
|
rs759283485
|
0.00002
|
NM_000532.5(PCCB):c.1132G>A (p.Val378Ile)
|
rs761529521
|
0.00002
|
NM_000532.5(PCCB):c.12A>G (p.Ala4=)
|
rs1476876445
|
0.00002
|
NM_000532.5(PCCB):c.1304A>G (p.Tyr435Cys)
|
rs121964961
|
0.00002
|
NM_000532.5(PCCB):c.1317T>C (p.Tyr439=)
|
rs199541514
|
0.00002
|
NM_000532.5(PCCB):c.131G>A (p.Arg44Gln)
|
rs375014273
|
0.00002
|
NM_000532.5(PCCB):c.1338C>T (p.His446=)
|
rs958149789
|
0.00002
|
NM_000532.5(PCCB):c.1372G>A (p.Ala458Thr)
|
rs542389615
|
0.00002
|
NM_000532.5(PCCB):c.1499-14C>T
|
rs369168852
|
0.00002
|
NM_000532.5(PCCB):c.24G>T (p.Ala8=)
|
rs1057523611
|
0.00002
|
NM_000532.5(PCCB):c.30C>T (p.Val10=)
|
rs754303318
|
0.00002
|
NM_000532.5(PCCB):c.318C>T (p.Ser106=)
|
rs767388070
|
0.00002
|
NM_000532.5(PCCB):c.449C>T (p.Thr150Met)
|
rs372770908
|
0.00002
|
NM_000532.5(PCCB):c.45C>T (p.Ser15=)
|
rs754664563
|
0.00002
|
NM_000532.5(PCCB):c.480C>T (p.Asp160=)
|
rs1454839953
|
0.00002
|
NM_000532.5(PCCB):c.543G>C (p.Leu181=)
|
rs777868289
|
0.00002
|
NM_000532.5(PCCB):c.595C>T (p.Pro199Ser)
|
rs371155999
|
0.00002
|
NM_000532.5(PCCB):c.836C>T (p.Pro279Leu)
|
rs780837200
|
0.00002
|
NM_000532.5(PCCB):c.889C>T (p.Arg297Cys)
|
rs549397464
|
0.00002
|
NM_000532.5(PCCB):c.939C>T (p.Ala313=)
|
rs369008776
|
0.00002
|
NM_000532.5(PCCB):c.945C>T (p.Asn315=)
|
rs766185451
|
0.00002
|
NM_000532.5(PCCB):c.996C>T (p.Ile332=)
|
rs773854246
|
0.00002
|
NM_000532.5(PCCB):c.1008T>C (p.Tyr336=)
|
rs769437282
|
0.00001
|
NM_000532.5(PCCB):c.1022T>C (p.Ile341Thr)
|
rs757258397
|
0.00001
|
NM_000532.5(PCCB):c.1043A>G (p.Asn348Ser)
|
rs747309318
|
0.00001
|
NM_000532.5(PCCB):c.1091-14C>A
|
rs1053805085
|
0.00001
|
NM_000532.5(PCCB):c.1091-6T>C
|
rs778146041
|
0.00001
|
NM_000532.5(PCCB):c.1096T>C (p.Leu366=)
|
rs779828803
|
0.00001
|
NM_000532.5(PCCB):c.1104T>C (p.Ile368=)
|
rs768328410
|
0.00001
|
NM_000532.5(PCCB):c.1107T>C (p.Asn369=)
|
rs1025062139
|
0.00001
|
NM_000532.5(PCCB):c.1140C>G (p.Phe380Leu)
|
rs1277882976
|
0.00001
|
NM_000532.5(PCCB):c.1145A>G (p.Asp382Gly)
|
rs201138170
|
0.00001
|
NM_000532.5(PCCB):c.116T>C (p.Ile39Thr)
|
rs182412270
|
0.00001
|
NM_000532.5(PCCB):c.1173T>C (p.Phe391=)
|
rs751750136
|
0.00001
|
NM_000532.5(PCCB):c.1198+19G>A
|
rs923951408
|
0.00001
|
NM_000532.5(PCCB):c.1199-4C>T
|
rs1361484856
|
0.00001
|
NM_000532.5(PCCB):c.1199-8A>G
|
rs886058019
|
0.00001
|
NM_000532.5(PCCB):c.1224C>T (p.Ile408=)
|
rs773701247
|
0.00001
|
NM_000532.5(PCCB):c.1251C>T (p.Tyr417=)
|
rs781546348
|
0.00001
|
NM_000532.5(PCCB):c.1283C>T (p.Thr428Ile)
|
rs111033542
|
0.00001
|
NM_000532.5(PCCB):c.128G>A (p.Arg43His)
|
rs1941481863
|
0.00001
|
NM_000532.5(PCCB):c.1299G>C (p.Lys433Asn)
|
rs774942448
|
0.00001
|
NM_000532.5(PCCB):c.1300-11A>G
|
rs200406126
|
0.00001
|
NM_000532.5(PCCB):c.1301C>T (p.Ala434Val)
|
rs751538672
|
0.00001
|
NM_000532.5(PCCB):c.1302C>T (p.Ala434=)
|
rs755024380
|
0.00001
|
NM_000532.5(PCCB):c.1309G>A (p.Gly437Ser)
|
rs1349202366
|
0.00001
|
NM_000532.5(PCCB):c.130C>T (p.Arg44Trp)
|
rs749210374
|
0.00001
|
NM_000532.5(PCCB):c.1316A>G (p.Tyr439Cys)
|
rs769521436
|
0.00001
|
NM_000532.5(PCCB):c.1344T>C (p.Cys448=)
|
rs1306702510
|
0.00001
|
NM_000532.5(PCCB):c.1368C>T (p.Pro456=)
|
rs776005238
|
0.00001
|
NM_000532.5(PCCB):c.1370C>T (p.Thr457Ile)
|
rs1301343613
|
0.00001
|
NM_000532.5(PCCB):c.1378A>G (p.Ile460Val)
|
rs376998134
|
0.00001
|
NM_000532.5(PCCB):c.1383A>C (p.Ala461=)
|
rs1354285306
|
0.00001
|
NM_000532.5(PCCB):c.1399-10C>T
|
rs774180307
|
0.00001
|
NM_000532.5(PCCB):c.1399-2_1399-1del
|
rs1317123493
|
0.00001
|
NM_000532.5(PCCB):c.139C>G (p.Leu47Val)
|
rs199935380
|
0.00001
|
NM_000532.5(PCCB):c.1401C>T (p.Gly467=)
|
rs142915585
|
0.00001
|
NM_000532.5(PCCB):c.142C>T (p.Leu48=)
|
rs376983709
|
0.00001
|
NM_000532.5(PCCB):c.1431G>A (p.Glu477=)
|
rs989893902
|
0.00001
|
NM_000532.5(PCCB):c.143T>G (p.Leu48Arg)
|
rs1368586445
|
0.00001
|
NM_000532.5(PCCB):c.1444G>T (p.Ala482Ser)
|
rs752000929
|
0.00001
|
NM_000532.5(PCCB):c.1456T>C (p.Tyr486His)
|
rs143190442
|
0.00001
|
NM_000532.5(PCCB):c.1481T>C (p.Phe494Ser)
|
rs1935428949
|
0.00001
|
NM_000532.5(PCCB):c.1495C>T (p.Arg499Ter)
|
rs202247820
|
0.00001
|
NM_000532.5(PCCB):c.1499-6C>T
|
rs769854818
|
0.00001
|
NM_000532.5(PCCB):c.1502T>C (p.Phe501Ser)
|
rs1483082276
|
0.00001
|
NM_000532.5(PCCB):c.1504G>A (p.Val502Met)
|
rs763024986
|
0.00001
|
NM_000532.5(PCCB):c.1521A>G (p.Gln507=)
|
rs774461715
|
0.00001
|
NM_000532.5(PCCB):c.1535G>A (p.Arg512His)
|
rs764697873
|
0.00001
|
NM_000532.5(PCCB):c.1556T>C (p.Leu519Pro)
|
rs202247822
|
0.00001
|
NM_000532.5(PCCB):c.1614A>G (p.Pro538=)
|
rs767287287
|
0.00001
|
NM_000532.5(PCCB):c.168C>T (p.Asp56=)
|
rs759008477
|
0.00001
|
NM_000532.5(PCCB):c.177C>G (p.His59Gln)
|
rs757134877
|
0.00001
|
NM_000532.5(PCCB):c.182G>A (p.Arg61Gln)
|
rs909550005
|
0.00001
|
NM_000532.5(PCCB):c.183+12_183+31dup
|
rs745694339
|
0.00001
|
NM_000532.5(PCCB):c.183+7C>G
|
rs1039491317
|
0.00001
|
NM_000532.5(PCCB):c.27G>A (p.Ala9=)
|
rs1402404407
|
0.00001
|
NM_000532.5(PCCB):c.297G>A (p.Lys99=)
|
rs768256081
|
0.00001
|
NM_000532.5(PCCB):c.303+13A>G
|
rs533887723
|
0.00001
|
NM_000532.5(PCCB):c.305T>G (p.Phe102Cys)
|
rs1248879007
|
0.00001
|
NM_000532.5(PCCB):c.31G>C (p.Gly11Arg)
|
rs757860152
|
0.00001
|
NM_000532.5(PCCB):c.321G>C (p.Val107=)
|
rs201915067
|
0.00001
|
NM_000532.5(PCCB):c.331C>T (p.Arg111Ter)
|
rs753981900
|
0.00001
|
NM_000532.5(PCCB):c.332G>A (p.Arg111Gln)
|
rs757534748
|
0.00001
|
NM_000532.5(PCCB):c.337C>T (p.Arg113Ter)
|
rs186031457
|
0.00001
|
NM_000532.5(PCCB):c.348A>G (p.Gly116=)
|
rs1057522223
|
0.00001
|
NM_000532.5(PCCB):c.371del (p.Gln124fs)
|
rs1481849460
|
0.00001
|
NM_000532.5(PCCB):c.373-13A>G
|
rs1559997795
|
0.00001
|
NM_000532.5(PCCB):c.373-7T>G
|
rs995479007
|
0.00001
|
NM_000532.5(PCCB):c.38G>A (p.Arg13Lys)
|
rs1941477030
|
0.00001
|
NM_000532.5(PCCB):c.3G>A (p.Met1Ile)
|
rs398123464
|
0.00001
|
NM_000532.5(PCCB):c.414C>T (p.Ala138=)
|
rs781142631
|
0.00001
|
NM_000532.5(PCCB):c.460C>T (p.Pro154Ser)
|
rs1468203736
|
0.00001
|
NM_000532.5(PCCB):c.46G>T (p.Val16Phe)
|
rs780842004
|
0.00001
|
NM_000532.5(PCCB):c.483T>G (p.Ser161=)
|
rs751200837
|
0.00001
|
NM_000532.5(PCCB):c.484G>T (p.Gly162Trp)
|
rs754752068
|
0.00001
|
NM_000532.5(PCCB):c.493C>T (p.Arg165Trp)
|
rs879253815
|
0.00001
|
NM_000532.5(PCCB):c.494G>A (p.Arg165Gln)
|
rs1304714042
|
0.00001
|
NM_000532.5(PCCB):c.502G>A (p.Glu168Lys)
|
rs121964960
|
0.00001
|
NM_000532.5(PCCB):c.507A>C (p.Gly169=)
|
rs1334504053
|
0.00001
|
NM_000532.5(PCCB):c.544-2A>G
|
rs752377212
|
0.00001
|
NM_000532.5(PCCB):c.544-4G>A
|
rs1390317726
|
0.00001
|
NM_000532.5(PCCB):c.54G>A (p.Ala18=)
|
rs1343618692
|
0.00001
|
NM_000532.5(PCCB):c.563G>C (p.Gly188Ala)
|
rs796052024
|
0.00001
|
NM_000532.5(PCCB):c.580T>G (p.Ser194Ala)
|
rs1237531952
|
0.00001
|
NM_000532.5(PCCB):c.583C>G (p.Leu195Val)
|
rs747267484
|
0.00001
|
NM_000532.5(PCCB):c.597A>G (p.Pro199=)
|
rs773799305
|
0.00001
|
NM_000532.5(PCCB):c.627C>T (p.Ala209=)
|
rs1157323383
|
0.00001
|
NM_000532.5(PCCB):c.630A>C (p.Leu210=)
|
rs1269554950
|
0.00001
|
NM_000532.5(PCCB):c.630A>G (p.Leu210=)
|
rs1269554950
|
0.00001
|
NM_000532.5(PCCB):c.63C>G (p.Leu21=)
|
rs1941478618
|
0.00001
|
NM_000532.5(PCCB):c.645C>T (p.Phe215=)
|
rs1250882565
|
0.00001
|
NM_000532.5(PCCB):c.646A>G (p.Met216Val)
|
rs747252352
|
0.00001
|
NM_000532.5(PCCB):c.654+14G>T
|
rs1457950469
|
0.00001
|
NM_000532.5(PCCB):c.660C>T (p.Thr220=)
|
rs376645261
|
0.00001
|
NM_000532.5(PCCB):c.67G>A (p.Ala23Thr)
|
rs772483250
|
0.00001
|
NM_000532.5(PCCB):c.719C>T (p.Thr240Ile)
|
rs762986402
|
0.00001
|
NM_000532.5(PCCB):c.723G>A (p.Gln241=)
|
rs751695055
|
0.00001
|
NM_000532.5(PCCB):c.732C>T (p.Leu244=)
|
rs752940167
|
0.00001
|
NM_000532.5(PCCB):c.733G>A (p.Gly245Ser)
|
rs756414710
|
0.00001
|
NM_000532.5(PCCB):c.734G>A (p.Gly245Asp)
|
rs778242891
|
0.00001
|
NM_000532.5(PCCB):c.741C>T (p.Ala247=)
|
rs191115697
|
0.00001
|
NM_000532.5(PCCB):c.743A>G (p.Lys248Arg)
|
rs1365706286
|
0.00001
|
NM_000532.5(PCCB):c.746C>T (p.Thr249Ile)
|
rs779581071
|
0.00001
|
NM_000532.5(PCCB):c.747C>T (p.Thr249=)
|
rs746448544
|
0.00001
|
NM_000532.5(PCCB):c.758T>C (p.Met253Thr)
|
rs747881252
|
0.00001
|
NM_000532.5(PCCB):c.75C>T (p.Val25=)
|
rs761030422
|
0.00001
|
NM_000532.5(PCCB):c.787A>G (p.Asn263Asp)
|
rs529945350
|
0.00001
|
NM_000532.5(PCCB):c.788A>G (p.Asn263Ser)
|
rs749071200
|
0.00001
|
NM_000532.5(PCCB):c.801C>T (p.Ala267=)
|
rs759508806
|
0.00001
|
NM_000532.5(PCCB):c.814C>T (p.Arg272Trp)
|
rs375999824
|
0.00001
|
NM_000532.5(PCCB):c.825dup (p.Asn276fs)
|
rs748393514
|
0.00001
|
NM_000532.5(PCCB):c.86G>T (p.Cys29Phe)
|
rs765843410
|
0.00001
|
NM_000532.5(PCCB):c.876C>G (p.His292Gln)
|
rs776893713
|
0.00001
|
NM_000532.5(PCCB):c.884+14C>T
|
rs372020160
|
0.00001
|
NM_000532.5(PCCB):c.884+15G>A
|
rs374909979
|
0.00001
|
NM_000532.5(PCCB):c.885-7C>T
|
rs1427637783
|
0.00001
|
NM_000532.5(PCCB):c.888C>T (p.Asp296=)
|
rs753285409
|
0.00001
|
NM_000532.5(PCCB):c.907G>C (p.Asp303His)
|
rs943266027
|
0.00001
|
NM_000532.5(PCCB):c.909C>T (p.Asp303=)
|
rs375740382
|
0.00001
|
NM_000532.5(PCCB):c.920C>T (p.Pro307Leu)
|
rs1370289032
|
0.00001
|
NM_000532.5(PCCB):c.942C>A (p.Tyr314Ter)
|
rs572246667
|
0.00001
|
NM_000532.5(PCCB):c.942C>T (p.Tyr314=)
|
rs572246667
|
0.00001
|
NM_000532.5(PCCB):c.943A>G (p.Asn315Asp)
|
rs1456890228
|
0.00001
|
NM_000532.5(PCCB):c.944A>G (p.Asn315Ser)
|
rs558836100
|
0.00001
|
NM_000532.5(PCCB):c.966+20G>A
|
rs778065472
|
0.00001
|
NM_000532.5(PCCB):c.966+9C>T
|
rs1325021223
|
0.00001
|
NM_000532.5(PCCB):c.966T>C (p.Ser322=)
|
rs1269805994
|
0.00001
|
NM_000532.5(PCCB):c.967-3C>T
|
rs1186569803
|
0.00001
|
NM_000532.5(PCCB):c.975T>C (p.Asp325=)
|
rs746146640
|
0.00001
|
NM_000532.5(PCCB):c.978G>A (p.Glu326=)
|
rs1419967211
|
0.00001
|
NM_000532.5(PCCB):c.979C>T (p.Arg327Cys)
|
rs377660729
|
0.00001
|
NC_000003.11:g.(?_135969218)_(135969420_?)dup
|
|
|
NC_000003.11:g.(?_135969218)_(136048868_?)dup
|
|
|
NC_000003.11:g.(?_135974688)_(136003251_?)del
|
|
|
NC_000003.11:g.(?_135980784)_(135980917_?)del
|
|
|
NC_000003.11:g.(?_136002659)_(136002809_?)del
|
|
|
NC_000003.11:g.(?_136002659)_(136016934_?)del
|
|
|
NC_000003.11:g.(?_136002659)_(136035926_?)del
|
|
|
NC_000003.11:g.(?_136012588)_(136035916_?)del
|
|
|
NC_000003.11:g.(?_136016774)_(136016934_?)del
|
|
|
NC_000003.11:g.(?_136019862)_(136019963_?)del
|
|
|
NC_000003.12:g.(?_136250366)_(136250568_?)del
|
|
|
NC_000003.12:g.(?_136316921)_(136317084_?)del
|
|
|
NM_000532.5(PCCB):c.-8_12del (p.Met1fs)
|
rs2108127602
|
|
NM_000532.5(PCCB):c.1002C>A (p.Pro334=)
|
rs370304541
|
|
NM_000532.5(PCCB):c.1004A>G (p.Asn335Ser)
|
|
|
NM_000532.5(PCCB):c.1006T>A (p.Tyr336Asn)
|
|
|
NM_000532.5(PCCB):c.1008T>G (p.Tyr336Ter)
|
|
|
NM_000532.5(PCCB):c.1013A>C (p.Lys338Thr)
|
|
|
NM_000532.5(PCCB):c.1015A>G (p.Asn339Asp)
|
rs1934921365
|
|
NM_000532.5(PCCB):c.1017C>T (p.Asn339=)
|
rs764080368
|
|
NM_000532.5(PCCB):c.1020C>T (p.Ile340=)
|
rs2108226621
|
|
NM_000532.5(PCCB):c.1021A>G (p.Ile341Val)
|
|
|
NM_000532.5(PCCB):c.1022TTG[1] (p.Val342del)
|
|
|
NM_000532.5(PCCB):c.1027_1028dup (p.Phe344fs)
|
rs2108226643
|
|
NM_000532.5(PCCB):c.102T>C (p.Ser34=)
|
|
|
NM_000532.5(PCCB):c.1032T>C (p.Phe344=)
|
|
|
NM_000532.5(PCCB):c.1035A>G (p.Ala345=)
|
|
|
NM_000532.5(PCCB):c.1037G>A (p.Arg346Lys)
|
|
|
NM_000532.5(PCCB):c.1039A>T (p.Met347Leu)
|
|
|
NM_000532.5(PCCB):c.1043_1044del (p.Asn348fs)
|
rs2108226666
|
|
NM_000532.5(PCCB):c.1044T>C (p.Asn348=)
|
|
|
NM_000532.5(PCCB):c.1047G>A (p.Gly349=)
|
rs2108226680
|
|
NM_000532.5(PCCB):c.105dup (p.Asn36Ter)
|
rs2108127935
|
|
NM_000532.5(PCCB):c.1068C>T (p.Gly356=)
|
rs980116020
|
|
NM_000532.5(PCCB):c.106A>C (p.Asn36His)
|
|
|
NM_000532.5(PCCB):c.1077T>C (p.Pro359=)
|
|
|
NM_000532.5(PCCB):c.1080G>A (p.Lys360=)
|
|
|
NM_000532.5(PCCB):c.1086C>T (p.Ala362=)
|
rs748740009
|
|
NM_000532.5(PCCB):c.1088C>T (p.Ser363Leu)
|
rs2108226720
|
|
NM_000532.5(PCCB):c.1090+11G>A
|
|
|
NM_000532.5(PCCB):c.1090+13T>C
|
|
|
NM_000532.5(PCCB):c.1090+13_1090+16del
|
|
|
NM_000532.5(PCCB):c.1090+15_1090+16dup
|
|
|
NM_000532.5(PCCB):c.1090+17A>C
|
|
|
NM_000532.5(PCCB):c.1090+17A>T
|
|
|
NM_000532.5(PCCB):c.1090+17dup
|
|
|
NM_000532.5(PCCB):c.1090+19A>G
|
|
|
NM_000532.5(PCCB):c.1090+2T>C
|
rs1553782779
|
|
NM_000532.5(PCCB):c.1090+3A>C
|
|
|
NM_000532.5(PCCB):c.1090+6A>C
|
|
|
NM_000532.5(PCCB):c.1090+7T>C
|
rs2108226731
|
|
NM_000532.5(PCCB):c.1090+8G>A
|
rs2108226738
|
|
NM_000532.5(PCCB):c.1090_1090+1insTC
|
|
|
NM_000532.5(PCCB):c.1091-12C>G
|
|
|
NM_000532.5(PCCB):c.1091-12C>T
|
|
|
NM_000532.5(PCCB):c.1091-14C>T
|
|
|
NM_000532.5(PCCB):c.1091-15TC[3]
|
|
|
NM_000532.5(PCCB):c.1091-16_1091-14del
|
|
|
NM_000532.5(PCCB):c.1091-19A>G
|
|
|
NM_000532.5(PCCB):c.1091-1G>A
|
rs2108237784
|
|
NM_000532.5(PCCB):c.1091-4C>T
|
rs759283485
|
|
NM_000532.5(PCCB):c.1091-6_1091-3del
|
rs767794302
|
|
NM_000532.5(PCCB):c.1091-8C>T
|
|
|
NM_000532.5(PCCB):c.1091-8_1091-3del
|
rs1249235758
|
|
NM_000532.5(PCCB):c.1091-9T>C
|
|
|
NM_000532.5(PCCB):c.1094G>A (p.Cys365Tyr)
|
|
|
NM_000532.5(PCCB):c.10del (p.Ala4fs)
|
|
|
NM_000532.5(PCCB):c.1119A>G (p.Lys373=)
|
rs2108237811
|
|
NM_000532.5(PCCB):c.1123_1124delinsCT (p.Ala375Leu)
|
|
|
NM_000532.5(PCCB):c.1124C>T (p.Ala375Val)
|
rs1576360099
|
|
NM_000532.5(PCCB):c.1126C>G (p.Arg376Gly)
|
|
|
NM_000532.5(PCCB):c.1126C>T (p.Arg376Cys)
|
rs200306164
|
|
NM_000532.5(PCCB):c.1127G>T (p.Arg376Leu)
|
rs142982097
|
|
NM_000532.5(PCCB):c.1131dup (p.Val378fs)
|
|
|
NM_000532.5(PCCB):c.1132G>C (p.Val378Leu)
|
rs761529521
|
|
NM_000532.5(PCCB):c.1132G>T (p.Val378Phe)
|
rs761529521
|
|
NM_000532.5(PCCB):c.1134C>A (p.Val378=)
|
|
|
NM_000532.5(PCCB):c.1143T>A (p.Cys381Ter)
|
|
|
NM_000532.5(PCCB):c.1143_1144dup (p.Asp382fs)
|
rs1307858265
|
|
NM_000532.5(PCCB):c.1145A>T (p.Asp382Val)
|
|
|
NM_000532.5(PCCB):c.1146T>A (p.Asp382Glu)
|
rs2108237867
|
|
NM_000532.5(PCCB):c.1146T>C (p.Asp382=)
|
rs2108237867
|
|
NM_000532.5(PCCB):c.1149A>T (p.Ala383=)
|
rs1303454039
|
|
NM_000532.5(PCCB):c.1155T>C (p.Asn385=)
|
|
|
NM_000532.5(PCCB):c.115A>G (p.Ile39Val)
|
rs1208205672
|
|
NM_000532.5(PCCB):c.1164C>T (p.Leu388=)
|
|
|
NM_000532.5(PCCB):c.1165A>T (p.Ile389Phe)
|
|
|
NM_000532.5(PCCB):c.1166T>A (p.Ile389Asn)
|
rs2108237886
|
|
NM_000532.5(PCCB):c.1167C>A (p.Ile389=)
|
|
|
NM_000532.5(PCCB):c.1169C>T (p.Thr390Ile)
|
rs201880353
|
|
NM_000532.5(PCCB):c.116T>G (p.Ile39Ser)
|
|
|
NM_000532.5(PCCB):c.1172T>C (p.Phe391Ser)
|
|
|
NM_000532.5(PCCB):c.1172T>G (p.Phe391Cys)
|
|
|
NM_000532.5(PCCB):c.1172_1173del (p.Phe391fs)
|
rs587776758
|
|
NM_000532.5(PCCB):c.1173dup (p.Val392fs)
|
rs587776758
|
|
NM_000532.5(PCCB):c.1182C>T (p.Val394=)
|
|
|
NM_000532.5(PCCB):c.1194A>C (p.Leu398=)
|
|
|
NM_000532.5(PCCB):c.1194A>G (p.Leu398=)
|
rs767647079
|
|
NM_000532.5(PCCB):c.1195C>T (p.Pro399Ser)
|
|
|
NM_000532.5(PCCB):c.1196C>G (p.Pro399Arg)
|
rs753037539
|
|
NM_000532.5(PCCB):c.1198+12A>G
|
|
|
NM_000532.5(PCCB):c.1198+13C>T
|
|
|
NM_000532.5(PCCB):c.1198+14A>G
|
|
|
NM_000532.5(PCCB):c.1198+17G>A
|
|
|
NM_000532.5(PCCB):c.1198+18T>G
|
|
|
NM_000532.5(PCCB):c.1198+18dup
|
|
|
NM_000532.5(PCCB):c.1198+19G>C
|
|
|
NM_000532.5(PCCB):c.1198+19G>T
|
|
|
NM_000532.5(PCCB):c.1198+1G>A
|
rs1935333494
|
|
NM_000532.5(PCCB):c.1199-15C>G
|
|
|
NM_000532.5(PCCB):c.1199-15C>T
|
|
|
NM_000532.5(PCCB):c.1199-17C>T
|
|
|
NM_000532.5(PCCB):c.1199-18dup
|
rs2108238321
|
|
NM_000532.5(PCCB):c.1199-1G>C
|
|
|
NM_000532.5(PCCB):c.1199-20T>G
|
|
|
NM_000532.5(PCCB):c.1199-2A>G
|
|
|
NM_000532.5(PCCB):c.1199-4C>G
|
|
|
NM_000532.5(PCCB):c.1199-5T>C
|
|
|
NM_000532.5(PCCB):c.1199-7T>C
|
|
|
NM_000532.5(PCCB):c.1199-9C>T
|
|
|
NM_000532.5(PCCB):c.119A>G (p.Glu40Gly)
|
|
|
NM_000532.5(PCCB):c.11_28dup (p.Ala4_Ala9dup)
|
rs777359703
|
|
NM_000532.5(PCCB):c.1202C>A (p.Thr401Lys)
|
rs371610471
|
|
NM_000532.5(PCCB):c.1202C>T (p.Thr401Ile)
|
|
|
NM_000532.5(PCCB):c.1207C>G (p.Gln403Glu)
|
|
|
NM_000532.5(PCCB):c.1210G>A (p.Glu404Lys)
|
rs777027944
|
|
NM_000532.5(PCCB):c.1214dup (p.Tyr405Ter)
|
rs2108238365
|
|
NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA (p.Gly407fs)
|
rs397507445
|
|
NM_000532.5(PCCB):c.1219G>A (p.Gly407Ser)
|
|
|
NM_000532.5(PCCB):c.1220G>T (p.Gly407Val)
|
|
|
NM_000532.5(PCCB):c.1222ATC[1] (p.Ile409del)
|
|
|
NM_000532.5(PCCB):c.1223_1226del (p.Ile408fs)
|
|
|
NM_000532.5(PCCB):c.1228C>A (p.Arg410=)
|
rs121964959
|
|
NM_000532.5(PCCB):c.1231C>A (p.His411Asn)
|
|
|
NM_000532.5(PCCB):c.1235G>A (p.Gly412Asp)
|
rs994386938
|
|
NM_000532.5(PCCB):c.1242G>A (p.Lys414=)
|
rs780048274
|
|
NM_000532.5(PCCB):c.1248C>G (p.Leu416=)
|
|
|
NM_000532.5(PCCB):c.1248C>T (p.Leu416=)
|
rs747022334
|
|
NM_000532.5(PCCB):c.1252G>A (p.Ala418Thr)
|
|
|
NM_000532.5(PCCB):c.1253C>T (p.Ala418Val)
|
|
|
NM_000532.5(PCCB):c.1254A>G (p.Ala418=)
|
|
|
NM_000532.5(PCCB):c.1260dup (p.Glu421Ter)
|
rs1553784569
|
|
NM_000532.5(PCCB):c.1267A>G (p.Thr423Ala)
|
|
|
NM_000532.5(PCCB):c.1269T>A (p.Thr423=)
|
rs2108238461
|
|
NM_000532.5(PCCB):c.1274C>T (p.Pro425Leu)
|
|
|
NM_000532.5(PCCB):c.1275del (p.Val427fs)
|
rs2108238464
|
|
NM_000532.5(PCCB):c.127C>T (p.Arg43Cys)
|
rs1031941989
|
|
NM_000532.5(PCCB):c.1281C>G (p.Val427=)
|
|
|
NM_000532.5(PCCB):c.1283_1284del (p.Thr428fs)
|
rs775583360
|
|
NM_000532.5(PCCB):c.1287C>A (p.Val429=)
|
rs2108238489
|
|
NM_000532.5(PCCB):c.1287C>G (p.Val429=)
|
rs2108238489
|
|
NM_000532.5(PCCB):c.1288_1299+5del
|
rs1250541852
|
|
NM_000532.5(PCCB):c.1293C>T (p.Thr431=)
|
rs1474177341
|
|
NM_000532.5(PCCB):c.1299+12A>G
|
rs751610521
|
|
NM_000532.5(PCCB):c.1299+19A>C
|
|
|
NM_000532.5(PCCB):c.1299+5G>A
|
|
|
NM_000532.5(PCCB):c.1299+7A>T
|
|
|
NM_000532.5(PCCB):c.1299+9C>T
|
|
|
NM_000532.5(PCCB):c.129C>T (p.Arg43=)
|
|
|
NM_000532.5(PCCB):c.12_26del (p.Leu5_Ala9del)
|
rs1553773148
|
|
NM_000532.5(PCCB):c.1300-12G>T
|
|
|
NM_000532.5(PCCB):c.1300-13G>A
|
rs1320397998
|
|
NM_000532.5(PCCB):c.1300-18C>T
|
|
|
NM_000532.5(PCCB):c.1300-19G>A
|
|
|
NM_000532.5(PCCB):c.1300-1G>A
|
|
|
NM_000532.5(PCCB):c.1300-1G>C
|
|
|
NM_000532.5(PCCB):c.1300-4T>A
|
rs1935372420
|
|
NM_000532.5(PCCB):c.1309G>T (p.Gly437Cys)
|
|
|
NM_000532.5(PCCB):c.130C>G (p.Arg44Gly)
|
rs749210374
|
|
NM_000532.5(PCCB):c.1310G>A (p.Gly437Asp)
|
|
|
NM_000532.5(PCCB):c.1313C>A (p.Ala438Asp)
|
|
|
NM_000532.5(PCCB):c.1313C>T (p.Ala438Val)
|
|
|
NM_000532.5(PCCB):c.1329C>T (p.Ser443=)
|
|
|
NM_000532.5(PCCB):c.132G>C (p.Arg44=)
|
|
|
NM_000532.5(PCCB):c.132G>T (p.Arg44=)
|
|
|
NM_000532.5(PCCB):c.1348G>A (p.Asp450Asn)
|
|
|
NM_000532.5(PCCB):c.134C>G (p.Thr45Ser)
|
|
|
NM_000532.5(PCCB):c.1350T>C (p.Asp450=)
|
rs1935374974
|
|
NM_000532.5(PCCB):c.1353_1356del (p.Asn452fs)
|
|
|
NM_000532.5(PCCB):c.1356C>G (p.Asn452Lys)
|
rs1455298516
|
|
NM_000532.5(PCCB):c.1356C>T (p.Asn452=)
|
rs1455298516
|
|
NM_000532.5(PCCB):c.1358A>G (p.Tyr453Cys)
|
|
|
NM_000532.5(PCCB):c.135C>A (p.Thr45=)
|
rs1576397628
|
|
NM_000532.5(PCCB):c.135C>G (p.Thr45=)
|
|
|
NM_000532.5(PCCB):c.135_148del (p.Ala46fs)
|
|
|
NM_000532.5(PCCB):c.1361C>A (p.Ala454Asp)
|
|
|
NM_000532.5(PCCB):c.1361_1364del (p.Ala454fs)
|
rs2108239069
|
|
NM_000532.5(PCCB):c.136_139delinsCCT (p.Ala46fs)
|
rs1576397633
|
|
NM_000532.5(PCCB):c.1379_1385del (p.Ile460fs)
|
rs1553784721
|
|
NM_000532.5(PCCB):c.1386C>A (p.Val462=)
|
|
|
NM_000532.5(PCCB):c.1386C>T (p.Val462=)
|
|
|
NM_000532.5(PCCB):c.138G>A (p.Ala46=)
|
rs145075817
|
|
NM_000532.5(PCCB):c.1393G>A (p.Ala465Thr)
|
rs774232001
|
|
NM_000532.5(PCCB):c.1395A>G (p.Ala465=)
|
|
|
NM_000532.5(PCCB):c.1395_1398+8del
|
|
|
NM_000532.5(PCCB):c.1398+11C>G
|
|
|
NM_000532.5(PCCB):c.1398+15C>T
|
|
|
NM_000532.5(PCCB):c.1398+16T>G
|
|
|
NM_000532.5(PCCB):c.1398+18T>C
|
|
|
NM_000532.5(PCCB):c.1398+1G>A
|
|
|
NM_000532.5(PCCB):c.1398+1G>C
|
|
|
NM_000532.5(PCCB):c.1398+2del
|
rs2108239135
|
|
NM_000532.5(PCCB):c.1398+3G>A
|
rs767511434
|
|
NM_000532.5(PCCB):c.1398+8C>T
|
|
|
NM_000532.5(PCCB):c.1398+9C>T
|
rs2108239140
|
|
NM_000532.5(PCCB):c.1399-12_1399-10del
|
|
|
NM_000532.5(PCCB):c.1399-5C>G
|
|
|
NM_000532.5(PCCB):c.1399-8A>G
|
|
|
NM_000532.5(PCCB):c.139C>A (p.Leu47Met)
|
|
|
NM_000532.5(PCCB):c.13T>C (p.Leu5=)
|
rs1559991921
|
|
NM_000532.5(PCCB):c.1400G>C (p.Gly467Ala)
|
rs2108240251
|
|
NM_000532.5(PCCB):c.1402G>T (p.Ala468Ser)
|
|
|
NM_000532.5(PCCB):c.1404T>C (p.Ala468=)
|
|
|
NM_000532.5(PCCB):c.140T>G (p.Leu47Arg)
|
|
|
NM_000532.5(PCCB):c.1410G>A (p.Glu470=)
|
|
|
NM_000532.5(PCCB):c.141G>A (p.Leu47=)
|
rs1378807952
|
|
NM_000532.5(PCCB):c.1422A>G (p.Lys474=)
|
|
|
NM_000532.5(PCCB):c.1422del (p.His476fs)
|
rs2108240287
|
|
NM_000532.5(PCCB):c.1425G>T (p.Gly475=)
|
|
|
NM_000532.5(PCCB):c.1429G>T (p.Glu477Ter)
|
rs1553784921
|
|
NM_000532.5(PCCB):c.1433_1436dup (p.Glu480fs)
|
rs1576361811
|
|
NM_000532.5(PCCB):c.1446T>C (p.Ala482=)
|
rs1233276940
|
|
NM_000532.5(PCCB):c.144G>A (p.Leu48=)
|
|
|
NM_000532.5(PCCB):c.144G>C (p.Leu48=)
|
rs1462411928
|
|
NM_000532.5(PCCB):c.1452A>G (p.Ala484=)
|
rs781556055
|
|
NM_000532.5(PCCB):c.1461C>T (p.Ile487=)
|
rs778676531
|
|
NM_000532.5(PCCB):c.1462G>C (p.Glu488Gln)
|
|
|
NM_000532.5(PCCB):c.1465A>T (p.Lys489Ter)
|
|
|
NM_000532.5(PCCB):c.1470T>C (p.Phe490=)
|
|
|
NM_000532.5(PCCB):c.1473C>G (p.Ala491=)
|
|
|
NM_000532.5(PCCB):c.1473C>T (p.Ala491=)
|
rs1428860331
|
|
NM_000532.5(PCCB):c.1475A>G (p.Asn492Ser)
|
|
|
NM_000532.5(PCCB):c.1478del (p.Pro493fs)
|
|
|
NM_000532.5(PCCB):c.1482C>G (p.Phe494Leu)
|
rs1179000221
|
|
NM_000532.5(PCCB):c.1482C>T (p.Phe494=)
|
rs1179000221
|
|
NM_000532.5(PCCB):c.1489G>A (p.Ala497Thr)
|
|
|
NM_000532.5(PCCB):c.1490C>G (p.Ala497Gly)
|
|
|
NM_000532.5(PCCB):c.1491A>C (p.Ala497=)
|
|
|
NM_000532.5(PCCB):c.1496G>T (p.Arg499Leu)
|
|
|
NM_000532.5(PCCB):c.1498+10T>C
|
rs777201996
|
|
NM_000532.5(PCCB):c.1498+12T>C
|
|
|
NM_000532.5(PCCB):c.1498+12_1498+13del
|
rs770922237
|
|
NM_000532.5(PCCB):c.1498+14G>A
|
|
|
NM_000532.5(PCCB):c.1498+15T>C
|
|
|
NM_000532.5(PCCB):c.1498+2T>C
|
rs879253816
|
|
NM_000532.5(PCCB):c.1498+8A>G
|
rs2108240447
|
|
NM_000532.5(PCCB):c.1498+9C>T
|
|
|
NM_000532.5(PCCB):c.1499-10G>T
|
|
|
NM_000532.5(PCCB):c.1499-19C>T
|
|
|
NM_000532.5(PCCB):c.1499-4C>T
|
|
|
NM_000532.5(PCCB):c.1499-9C>T
|
|
|
NM_000532.5(PCCB):c.14T>G (p.Leu5Ter)
|
rs1292452485
|
|
NM_000532.5(PCCB):c.150G>A (p.Gly50=)
|
|
|
NM_000532.5(PCCB):c.150G>C (p.Gly50=)
|
|
|
NM_000532.5(PCCB):c.150G>T (p.Gly50=)
|
|
|
NM_000532.5(PCCB):c.1514T>A (p.Ile505Asn)
|
|
|
NM_000532.5(PCCB):c.1515C>T (p.Ile505=)
|
rs2108241650
|
|
NM_000532.5(PCCB):c.1518C>G (p.Ile506Met)
|
|
|
NM_000532.5(PCCB):c.1518C>T (p.Ile506=)
|
|
|
NM_000532.5(PCCB):c.1519C>T (p.Gln507Ter)
|
rs2108241656
|
|
NM_000532.5(PCCB):c.151G>A (p.Gly51Ser)
|
|
|
NM_000532.5(PCCB):c.1520A>G (p.Gln507Arg)
|
rs886058020
|
|
NM_000532.5(PCCB):c.1524T>G (p.Pro508=)
|
|
|
NM_000532.5(PCCB):c.152dup (p.Gln52fs)
|
rs1941483338
|
|
NM_000532.5(PCCB):c.1531A>C (p.Thr511Pro)
|
|
|
NM_000532.5(PCCB):c.1534C>T (p.Arg512Cys)
|
rs186710233
|
|
NM_000532.5(PCCB):c.1539C>G (p.Ala513=)
|
rs2108241686
|
|
NM_000532.5(PCCB):c.1539C>T (p.Ala513=)
|
rs2108241686
|
|
NM_000532.5(PCCB):c.1540C>T (p.Arg514Ter)
|
rs749908889
|
|
NM_000532.5(PCCB):c.1542A>C (p.Arg514=)
|
rs1337219671
|
|
NM_000532.5(PCCB):c.1555C>G (p.Leu519Val)
|
rs1935481576
|
|
NM_000532.5(PCCB):c.155_183+17del
|
rs1941483558
|
|
NM_000532.5(PCCB):c.1564T>C (p.Leu522=)
|
rs2108241717
|
|
NM_000532.5(PCCB):c.1566G>A (p.Leu522=)
|
|
|
NM_000532.5(PCCB):c.1568C>T (p.Ala523Val)
|
|
|
NM_000532.5(PCCB):c.1570A>G (p.Ser524Gly)
|
rs1560035695
|
|
NM_000532.5(PCCB):c.1572C>G (p.Ser524Arg)
|
rs2108241736
|
|
NM_000532.5(PCCB):c.1574A>G (p.Lys525Arg)
|
|
|
NM_000532.5(PCCB):c.1582C>T (p.Gln528Ter)
|
rs1935482553
|
|
NM_000532.5(PCCB):c.1584A>G (p.Gln528=)
|
|
|
NM_000532.5(PCCB):c.1586G>A (p.Arg529His)
|
|
|
NM_000532.5(PCCB):c.1587T>C (p.Arg529=)
|
|
|
NM_000532.5(PCCB):c.158G>A (p.Arg53His)
|
|
|
NM_000532.5(PCCB):c.1591T>G (p.Trp531Gly)
|
rs1284814283
|
|
NM_000532.5(PCCB):c.159C>T (p.Arg53=)
|
rs776900764
|
|
NM_000532.5(PCCB):c.1605A>G (p.Ala535=)
|
|
|
NM_000532.5(PCCB):c.1609_1610del (p.Ile537fs)
|
|
|
NM_000532.5(PCCB):c.1610T>A (p.Ile537Asn)
|
rs759733016
|
|
NM_000532.5(PCCB):c.1611T>A (p.Ile537=)
|
rs2108241808
|
|
NM_000532.5(PCCB):c.1612C>T (p.Pro538Ser)
|
rs775930817
|
|
NM_000532.5(PCCB):c.1615T>C (p.Leu539=)
|
|
|
NM_000532.5(PCCB):c.161G>A (p.Arg54His)
|
|
|
NM_000532.5(PCCB):c.164T>C (p.Ile55Thr)
|
rs765790211
|
|
NM_000532.5(PCCB):c.165T>C (p.Ile55=)
|
|
|
NM_000532.5(PCCB):c.166G>T (p.Asp56Tyr)
|
|
|
NM_000532.5(PCCB):c.167_179delinsC (p.Asp56_Lys60delinsAla)
|
|
|
NM_000532.5(PCCB):c.16C>G (p.Arg6Gly)
|
|
|
NM_000532.5(PCCB):c.16C>T (p.Arg6Trp)
|
rs377681768
|
|
NM_000532.5(PCCB):c.170C>T (p.Ala57Val)
|
|
|
NM_000532.5(PCCB):c.171G>T (p.Ala57=)
|
rs1168077273
|
|
NM_000532.5(PCCB):c.174G>A (p.Gln58=)
|
rs1576397701
|
|
NM_000532.5(PCCB):c.174_175delinsTA (p.Gln58_His59delinsHisAsn)
|
rs2108128131
|
|
NM_000532.5(PCCB):c.175C>A (p.His59Asn)
|
|
|
NM_000532.5(PCCB):c.175C>T (p.His59Tyr)
|
|
|
NM_000532.5(PCCB):c.17G>T (p.Arg6Leu)
|
rs767965814
|
|
NM_000532.5(PCCB):c.180_181delinsTT (p.Lys60_Arg61delinsAsnTer)
|
rs2108128163
|
|
NM_000532.5(PCCB):c.183+11_183+30dup
|
rs1205510892
|
|
NM_000532.5(PCCB):c.183+12G>A
|
|
|
NM_000532.5(PCCB):c.183+13G>A
|
|
|
NM_000532.5(PCCB):c.183+14G>A
|
|
|
NM_000532.5(PCCB):c.183+15G>A
|
|
|
NM_000532.5(PCCB):c.183+15G>C
|
|
|
NM_000532.5(PCCB):c.183+15G>T
|
|
|
NM_000532.5(PCCB):c.183+15del
|
|
|
NM_000532.5(PCCB):c.183+16C>T
|
|
|
NM_000532.5(PCCB):c.183+17C>A
|
|
|
NM_000532.5(PCCB):c.183+18T>C
|
|
|
NM_000532.5(PCCB):c.183+19A>C
|
|
|
NM_000532.5(PCCB):c.183+19A>G
|
rs2108128256
|
|
NM_000532.5(PCCB):c.183+19_183+22del
|
rs2108128253
|
|
NM_000532.5(PCCB):c.183+1G>A
|
rs398123460
|
|
NM_000532.5(PCCB):c.183+1G>C
|
|
|
NM_000532.5(PCCB):c.183+21_183+46del
|
|
|
NM_000532.5(PCCB):c.183+3G>C
|
rs398123461
|
|
NM_000532.5(PCCB):c.183+3_183+6del
|
|
|
NM_000532.5(PCCB):c.183+5G>A
|
rs879253813
|
|
NM_000532.5(PCCB):c.183+5G>C
|
|
|
NM_000532.5(PCCB):c.183+7C>T
|
rs1039491317
|
|
NM_000532.5(PCCB):c.183+8C>T
|
rs780042796
|
|
NM_000532.5(PCCB):c.183+9T>C
|
rs2108128200
|
|
NM_000532.5(PCCB):c.183+9_183+28del
|
|
|
NM_000532.5(PCCB):c.184-12G>A
|
|
|
NM_000532.5(PCCB):c.184-16C>T
|
|
|
NM_000532.5(PCCB):c.184-5T>C
|
|
|
NM_000532.5(PCCB):c.184-7A>G
|
rs1941659337
|
|
NM_000532.5(PCCB):c.184-7A>T
|
rs1941659337
|
|
NM_000532.5(PCCB):c.184-8C>T
|
|
|
NM_000532.5(PCCB):c.184-8del
|
|
|
NM_000532.5(PCCB):c.184-9C>T
|
rs2108137236
|
|
NM_000532.5(PCCB):c.185G>C (p.Gly62Ala)
|
rs886058017
|
|
NM_000532.5(PCCB):c.187_203del
|
rs2108137253
|
|
NM_000532.5(PCCB):c.189G>A (p.Lys63=)
|
|
|
NM_000532.5(PCCB):c.18G>A (p.Arg6=)
|
|
|
NM_000532.5(PCCB):c.18G>C (p.Arg6=)
|
rs2108127702
|
|
NM_000532.5(PCCB):c.18G>T (p.Arg6=)
|
rs2108127702
|
|
NM_000532.5(PCCB):c.192A>G (p.Leu64=)
|
|
|
NM_000532.5(PCCB):c.197C>T (p.Ala66Val)
|
rs2108137275
|
|
NM_000532.5(PCCB):c.199A>G (p.Arg67Gly)
|
|
|
NM_000532.5(PCCB):c.19G>T (p.Val7Leu)
|
|
|
NM_000532.5(PCCB):c.202G>A (p.Glu68Lys)
|
rs2108137296
|
|
NM_000532.5(PCCB):c.210C>G (p.Ile70Met)
|
|
|
NM_000532.5(PCCB):c.210C>T (p.Ile70=)
|
rs1195573163
|
|
NM_000532.5(PCCB):c.211A>G (p.Ser71Gly)
|
|
|
NM_000532.5(PCCB):c.216C>A (p.Leu72=)
|
|
|
NM_000532.5(PCCB):c.216C>T (p.Leu72=)
|
rs2108137325
|
|
NM_000532.5(PCCB):c.217T>C (p.Leu73=)
|
rs1941660630
|
|
NM_000532.5(PCCB):c.21G>A (p.Val7=)
|
rs1404763021
|
|
NM_000532.5(PCCB):c.21G>C (p.Val7=)
|
rs1404763021
|
|
NM_000532.5(PCCB):c.221T>C (p.Leu74Pro)
|
|
|
NM_000532.5(PCCB):c.223G>T (p.Asp75Tyr)
|
rs2108137332
|
|
NM_000532.5(PCCB):c.231C>G (p.Gly77=)
|
|
|
NM_000532.5(PCCB):c.231C>T (p.Gly77=)
|
rs2108137338
|
|
NM_000532.5(PCCB):c.235T>G (p.Phe79Val)
|
|
|
NM_000532.5(PCCB):c.237T>C (p.Phe79=)
|
|
|
NM_000532.5(PCCB):c.247G>A (p.Asp83Asn)
|
|
|
NM_000532.5(PCCB):c.249C>T (p.Asp83=)
|
rs1941661486
|
|
NM_000532.5(PCCB):c.24G>A (p.Ala8=)
|
|
|
NM_000532.5(PCCB):c.261A>G (p.Glu87=)
|
|
|
NM_000532.5(PCCB):c.273A>C (p.Ala91=)
|
|
|
NM_000532.5(PCCB):c.273A>G (p.Ala91=)
|
|
|
NM_000532.5(PCCB):c.274G>C (p.Asp92His)
|
rs2108137411
|
|
NM_000532.5(PCCB):c.275A>G (p.Asp92Gly)
|
|
|
NM_000532.5(PCCB):c.27G>C (p.Ala9=)
|
rs1402404407
|
|
NM_000532.5(PCCB):c.27G>T (p.Ala9=)
|
|
|
NM_000532.5(PCCB):c.283A>G (p.Met95Val)
|
rs1941662476
|
|
NM_000532.5(PCCB):c.293A>C (p.Asp98Ala)
|
rs915881293
|
|
NM_000532.5(PCCB):c.298_303del (p.Asn100_Lys101del)
|
rs763485353
|
|
NM_000532.5(PCCB):c.2T>C (p.Met1Thr)
|
rs398123462
|
|
NM_000532.5(PCCB):c.2T>G (p.Met1Arg)
|
|
|
NM_000532.5(PCCB):c.2_3delinsAA (p.Met1Lys)
|
|
|
NM_000532.5(PCCB):c.303+13A>C
|
|
|
NM_000532.5(PCCB):c.303+15G>A
|
|
|
NM_000532.5(PCCB):c.303+18G>A
|
|
|
NM_000532.5(PCCB):c.303+19_303+21del
|
rs1338554743
|
|
NM_000532.5(PCCB):c.303+1G>T
|
rs1941662983
|
|
NM_000532.5(PCCB):c.303+7G>A
|
rs747794871
|
|
NM_000532.5(PCCB):c.304-10T>C
|
|
|
NM_000532.5(PCCB):c.304-13A>G
|
|
|
NM_000532.5(PCCB):c.304-14C>T
|
|
|
NM_000532.5(PCCB):c.304-16del
|
|
|
NM_000532.5(PCCB):c.304-1G>A
|
|
|
NM_000532.5(PCCB):c.304-20T>C
|
|
|
NM_000532.5(PCCB):c.304-20T>G
|
|
|
NM_000532.5(PCCB):c.304-2A>G
|
|
|
NM_000532.5(PCCB):c.304-4G>T
|
rs1178341565
|
|
NM_000532.5(PCCB):c.304-5G>C
|
rs2108138190
|
|
NM_000532.5(PCCB):c.304-6T>C
|
rs1941675458
|
|
NM_000532.5(PCCB):c.304-8dup
|
|
|
NM_000532.5(PCCB):c.304-9T>C
|
rs772699339
|
|
NM_000532.5(PCCB):c.306T>C (p.Phe102=)
|
rs770601332
|
|
NM_000532.5(PCCB):c.30C>A (p.Val10=)
|
rs754303318
|
|
NM_000532.5(PCCB):c.30C>G (p.Val10=)
|
rs754303318
|
|
NM_000532.5(PCCB):c.315C>T (p.Asp105=)
|
|
|
NM_000532.5(PCCB):c.319G>A (p.Val107Met)
|
rs1553774114
|
|
NM_000532.5(PCCB):c.321G>A (p.Val107=)
|
|
|
NM_000532.5(PCCB):c.324C>G (p.Val108=)
|
|
|
NM_000532.5(PCCB):c.327T>C (p.Thr109=)
|
rs2108138226
|
|
NM_000532.5(PCCB):c.334G>A (p.Gly112Ser)
|
rs1941676220
|
|
NM_000532.5(PCCB):c.335G>A (p.Gly112Asp)
|
rs202247818
|
|
NM_000532.5(PCCB):c.336C>T (p.Gly112=)
|
|
|
NM_000532.5(PCCB):c.342C>A (p.Ile114=)
|
|
|
NM_000532.5(PCCB):c.344A>G (p.Asn115Ser)
|
rs2108138282
|
|
NM_000532.5(PCCB):c.34G>A (p.Ala12Thr)
|
|
|
NM_000532.5(PCCB):c.35C>A (p.Ala12Glu)
|
rs1257439275
|
|
NM_000532.5(PCCB):c.360T>C (p.Tyr120=)
|
rs1198278808
|
|
NM_000532.5(PCCB):c.368G>T (p.Ser123Ile)
|
rs1941677490
|
|
NM_000532.5(PCCB):c.369_372del (p.Ser123fs)
|
|
|
NM_000532.5(PCCB):c.372+12C>T
|
|
|
NM_000532.5(PCCB):c.372+14C>G
|
|
|
NM_000532.5(PCCB):c.372+15C>A
|
|
|
NM_000532.5(PCCB):c.372+18T>C
|
|
|
NM_000532.5(PCCB):c.372+1G>A
|
|
|
NM_000532.5(PCCB):c.372+2T>C
|
rs879253814
|
|
NM_000532.5(PCCB):c.372+4T>C
|
|
|
NM_000532.5(PCCB):c.373-17T>A
|
|
|
NM_000532.5(PCCB):c.373-1G>C
|
rs2108144374
|
|
NM_000532.5(PCCB):c.373-5T>C
|
|
|
NM_000532.5(PCCB):c.373-8C>G
|
|
|
NM_000532.5(PCCB):c.381A>G (p.Thr127=)
|
|
|
NM_000532.5(PCCB):c.384T>G (p.Val128=)
|
rs1169839469
|
|
NM_000532.5(PCCB):c.386delinsAA (p.Phe129Ter)
|
|
|
NM_000532.5(PCCB):c.387T>C (p.Phe129=)
|
rs1576405957
|
|
NM_000532.5(PCCB):c.392G>A (p.Gly131Asp)
|
|
|
NM_000532.5(PCCB):c.393C>T (p.Gly131=)
|
rs2108144426
|
|
NM_000532.5(PCCB):c.394A>G (p.Ser132Gly)
|
|
|
NM_000532.5(PCCB):c.397C>T (p.Leu133=)
|
rs1941791843
|
|
NM_000532.5(PCCB):c.39G>A (p.Arg13=)
|
|
|
NM_000532.5(PCCB):c.404G>T (p.Gly135Val)
|
|
|
NM_000532.5(PCCB):c.40C>A (p.Leu14Ile)
|
|
|
NM_000532.5(PCCB):c.40C>T (p.Leu14Phe)
|
rs1215705998
|
|
NM_000532.5(PCCB):c.414C>G (p.Ala138=)
|
rs781142631
|
|
NM_000532.5(PCCB):c.415C>T (p.Gln139Ter)
|
|
|
NM_000532.5(PCCB):c.417A>G (p.Gln139=)
|
|
|
NM_000532.5(PCCB):c.420_421dup (p.Ile141fs)
|
rs1941792521
|
|
NM_000532.5(PCCB):c.423C>A (p.Ile141=)
|
rs2108144487
|
|
NM_000532.5(PCCB):c.427A>T (p.Lys143Ter)
|
|
|
NM_000532.5(PCCB):c.429+11A>C
|
|
|
NM_000532.5(PCCB):c.429+15C>T
|
|
|
NM_000532.5(PCCB):c.429+17C>A
|
|
|
NM_000532.5(PCCB):c.429+17C>T
|
|
|
NM_000532.5(PCCB):c.429+1G>A
|
rs1317017233
|
|
NM_000532.5(PCCB):c.429+20A>G
|
rs1282306131
|
|
NM_000532.5(PCCB):c.429+20A>T
|
|
|
NM_000532.5(PCCB):c.429+8T>C
|
rs2108144514
|
|
NM_000532.5(PCCB):c.429+9T>G
|
|
|
NM_000532.5(PCCB):c.42C>G (p.Leu14=)
|
|
|
NM_000532.5(PCCB):c.42C>T (p.Leu14=)
|
rs2108127783
|
|
NM_000532.5(PCCB):c.430-12C>T
|
|
|
NM_000532.5(PCCB):c.430-13T>G
|
|
|
NM_000532.5(PCCB):c.430-14C>A
|
|
|
NM_000532.5(PCCB):c.430-14C>G
|
rs1320752306
|
|
NM_000532.5(PCCB):c.430-17T>C
|
|
|
NM_000532.5(PCCB):c.430-17T>G
|
rs2108146563
|
|
NM_000532.5(PCCB):c.430-18A>T
|
|
|
NM_000532.5(PCCB):c.430-19G>A
|
|
|
NM_000532.5(PCCB):c.430-9C>T
|
|
|
NM_000532.5(PCCB):c.430A>G (p.Ile144Val)
|
|
|
NM_000532.5(PCCB):c.433_434insGCTGTTA (p.Met145fs)
|
rs2108146615
|
|
NM_000532.5(PCCB):c.438C>T (p.Asp146=)
|
|
|
NM_000532.5(PCCB):c.439C>T (p.Gln147Ter)
|
|
|
NM_000532.5(PCCB):c.444C>T (p.Ala148=)
|
|
|
NM_000532.5(PCCB):c.446dup (p.Thr150fs)
|
|
|
NM_000532.5(PCCB):c.449del (p.Thr150fs)
|
|
|
NM_000532.5(PCCB):c.450G>C (p.Thr150=)
|
|
|
NM_000532.5(PCCB):c.450G>T (p.Thr150=)
|
|
|
NM_000532.5(PCCB):c.453G>A (p.Val151=)
|
|
|
NM_000532.5(PCCB):c.457G>C (p.Ala153Pro)
|
rs202247819
|
|
NM_000532.5(PCCB):c.459T>A (p.Ala153=)
|
rs2108146658
|
|
NM_000532.5(PCCB):c.461C>T (p.Pro154Leu)
|
|
|
NM_000532.5(PCCB):c.462A>G (p.Pro154=)
|
|
|
NM_000532.5(PCCB):c.467T>C (p.Ile156Thr)
|
rs1559998737
|
|
NM_000532.5(PCCB):c.471G>T (p.Gly157=)
|
rs2108146680
|
|
NM_000532.5(PCCB):c.472C>G (p.Leu158Val)
|
rs2108146685
|
|
NM_000532.5(PCCB):c.474G>A (p.Leu158=)
|
rs2108146690
|
|
NM_000532.5(PCCB):c.477T>A (p.Asn159Lys)
|
rs765946213
|
|
NM_000532.5(PCCB):c.483_484del (p.Gly163fs)
|
|
|
NM_000532.5(PCCB):c.484G>A (p.Gly162Arg)
|
|
|
NM_000532.5(PCCB):c.486G>A (p.Gly162=)
|
|
|
NM_000532.5(PCCB):c.486G>T (p.Gly162=)
|
|
|
NM_000532.5(PCCB):c.487_488dup (p.Ala164fs)
|
rs1553774884
|
|
NM_000532.5(PCCB):c.493C>G (p.Arg165Gly)
|
rs879253815
|
|
NM_000532.5(PCCB):c.494G>C (p.Arg165Pro)
|
|
|
NM_000532.5(PCCB):c.495G>T (p.Arg165=)
|
|
|
NM_000532.5(PCCB):c.499C>T (p.Gln167Ter)
|
|
|
NM_000532.5(PCCB):c.49C>T (p.Leu17=)
|
rs200185747
|
|
NM_000532.5(PCCB):c.505G>T (p.Gly169Ter)
|
rs1941842008
|
|
NM_000532.5(PCCB):c.513G>C (p.Glu171Asp)
|
rs1941842177
|
|
NM_000532.5(PCCB):c.517_518del (p.Leu173fs)
|
rs755776820
|
|
NM_000532.5(PCCB):c.519G>A (p.Leu173=)
|
rs2108146783
|
|
NM_000532.5(PCCB):c.522T>G (p.Ala174=)
|
|
|
NM_000532.5(PCCB):c.525C>A (p.Gly175=)
|
|
|
NM_000532.5(PCCB):c.526T>C (p.Tyr176His)
|
|
|
NM_000532.5(PCCB):c.527A>G (p.Tyr176Cys)
|
|
|
NM_000532.5(PCCB):c.528T>C (p.Tyr176=)
|
rs2108146812
|
|
NM_000532.5(PCCB):c.53C>G (p.Ala18Gly)
|
rs769481450
|
|
NM_000532.5(PCCB):c.53C>T (p.Ala18Val)
|
|
|
NM_000532.5(PCCB):c.540T>C (p.Phe180=)
|
|
|
NM_000532.5(PCCB):c.541C>T (p.Leu181=)
|
rs991870747
|
|
NM_000532.5(PCCB):c.543+10C>G
|
rs2108146841
|
|
NM_000532.5(PCCB):c.543+11T>C
|
|
|
NM_000532.5(PCCB):c.543+17T>G
|
|
|
NM_000532.5(PCCB):c.543+19G>C
|
|
|
NM_000532.5(PCCB):c.543+1G>A
|
rs2108146835
|
|
NM_000532.5(PCCB):c.543+1G>C
|
|
|
NM_000532.5(PCCB):c.543+8A>G
|
|
|
NM_000532.5(PCCB):c.544-10G>C
|
|
|
NM_000532.5(PCCB):c.545G>C (p.Arg182Thr)
|
rs2108181825
|
|
NM_000532.5(PCCB):c.553dup (p.Thr185fs)
|
rs777455573
|
|
NM_000532.5(PCCB):c.554C>G (p.Thr185Arg)
|
rs369612150
|
|
NM_000532.5(PCCB):c.555G>C (p.Thr185=)
|
rs543691110
|
|
NM_000532.5(PCCB):c.564A>G (p.Gly188=)
|
|
|
NM_000532.5(PCCB):c.565G>A (p.Val189Ile)
|
rs2108181880
|
|
NM_000532.5(PCCB):c.571C>G (p.Pro191Ala)
|
|
|
NM_000532.5(PCCB):c.577A>C (p.Ile193Leu)
|
rs1212475120
|
|
NM_000532.5(PCCB):c.579T>A (p.Ile193=)
|
rs2108181900
|
|
NM_000532.5(PCCB):c.57C>T (p.Ser19=)
|
rs1196995378
|
|
NM_000532.5(PCCB):c.581_584dup (p.Ile196fs)
|
|
|
NM_000532.5(PCCB):c.586A>G (p.Ile196Val)
|
|
|
NM_000532.5(PCCB):c.58G>A (p.Gly20Ser)
|
rs777726717
|
|
NM_000532.5(PCCB):c.58G>T (p.Gly20Cys)
|
|
|
NM_000532.5(PCCB):c.590T>C (p.Met197Thr)
|
|
|
NM_000532.5(PCCB):c.594C>G (p.Gly198=)
|
rs1933215700
|
|
NM_000532.5(PCCB):c.596C>T (p.Pro199Leu)
|
|
|
NM_000532.5(PCCB):c.597A>C (p.Pro199=)
|
rs773799305
|
|
NM_000532.5(PCCB):c.597A>T (p.Pro199=)
|
|
|
NM_000532.5(PCCB):c.59_60del (p.Gly20fs)
|
|
|
NM_000532.5(PCCB):c.5C>A (p.Ala2Glu)
|
|
|
NM_000532.5(PCCB):c.5C>T (p.Ala2Val)
|
|
|
NM_000532.5(PCCB):c.600T>A (p.Cys200Ter)
|
rs759098964
|
|
NM_000532.5(PCCB):c.611C>T (p.Ala204Val)
|
rs760499581
|
|
NM_000532.5(PCCB):c.612C>T (p.Ala204=)
|
rs201054265
|
|
NM_000532.5(PCCB):c.614T>A (p.Val205Asp)
|
rs1303129574
|
|
NM_000532.5(PCCB):c.614T>G (p.Val205Gly)
|
|
|
NM_000532.5(PCCB):c.620C>T (p.Ser207Phe)
|
rs1553777582
|
|
NM_000532.5(PCCB):c.632C>G (p.Thr211Arg)
|
rs2108182082
|
|
NM_000532.5(PCCB):c.634G>A (p.Asp212Asn)
|
|
|
NM_000532.5(PCCB):c.638del (p.Phe213fs)
|
rs1196443543
|
|
NM_000532.5(PCCB):c.641C>G (p.Thr214Arg)
|
rs375740942
|
|
NM_000532.5(PCCB):c.642G>T (p.Thr214=)
|
rs148056730
|
|
NM_000532.5(PCCB):c.649G>A (p.Val217Ile)
|
rs2108182134
|
|
NM_000532.5(PCCB):c.649dup (p.Val217fs)
|
rs796052021
|
|
NM_000532.5(PCCB):c.64C>T (p.Arg22Cys)
|
|
|
NM_000532.5(PCCB):c.652A>C (p.Lys218Gln)
|
|
|
NM_000532.5(PCCB):c.652A>G (p.Lys218Glu)
|
|
|
NM_000532.5(PCCB):c.654+13G>A
|
|
|
NM_000532.5(PCCB):c.654+14del
|
rs748846212
|
|
NM_000532.5(PCCB):c.654+16C>A
|
|
|
NM_000532.5(PCCB):c.654+17T>C
|
|
|
NM_000532.5(PCCB):c.654+18G>A
|
|
|
NM_000532.5(PCCB):c.654+462A>G
|
rs1576327011
|
|
NM_000532.5(PCCB):c.654+8A>T
|
rs2108182157
|
|
NM_000532.5(PCCB):c.655-12C>G
|
|
|
NM_000532.5(PCCB):c.655-18G>A
|
|
|
NM_000532.5(PCCB):c.655-20C>G
|
|
|
NM_000532.5(PCCB):c.655-2A>G
|
rs1553778865
|
|
NM_000532.5(PCCB):c.655-3C>G
|
|
|
NM_000532.5(PCCB):c.655-7del
|
|
|
NM_000532.5(PCCB):c.655-8T>C
|
|
|
NM_000532.5(PCCB):c.655-8dup
|
|
|
NM_000532.5(PCCB):c.655-9T>C
|
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|
NM_000532.5(PCCB):c.663C>T (p.Ser221=)
|
rs771455499
|
|
NM_000532.5(PCCB):c.667C>T (p.Leu223=)
|
rs1290994455
|
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NM_000532.5(PCCB):c.672C>T (p.Phe224=)
|
|
|
NM_000532.5(PCCB):c.675C>T (p.Ile225=)
|
rs2108197231
|
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NM_000532.5(PCCB):c.682C>G (p.Pro228Ala)
|
rs1052979420
|
|
NM_000532.5(PCCB):c.683del (p.Pro228fs)
|
rs2108197244
|
|
NM_000532.5(PCCB):c.68C>T (p.Ala23Val)
|
|
|
NM_000532.5(PCCB):c.693G>T (p.Val231=)
|
|
|
NM_000532.5(PCCB):c.69C>G (p.Ala23=)
|
|
|
NM_000532.5(PCCB):c.69C>T (p.Ala23=)
|
|
|
NM_000532.5(PCCB):c.6G>A (p.Ala2=)
|
rs769835356
|
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NM_000532.5(PCCB):c.6G>C (p.Ala2=)
|
|
|
NM_000532.5(PCCB):c.702C>G (p.Val234=)
|
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NM_000532.5(PCCB):c.703A>G (p.Thr235Ala)
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NM_000532.5(PCCB):c.711G>A (p.Glu237=)
|
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NM_000532.5(PCCB):c.714T>A (p.Asp238Glu)
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NM_000532.5(PCCB):c.716T>A (p.Val239Asp)
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NM_000532.5(PCCB):c.722A>T (p.Gln241Leu)
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|
NM_000532.5(PCCB):c.72G>A (p.Ala24=)
|
rs1389353704
|
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NM_000532.5(PCCB):c.72G>T (p.Ala24=)
|
rs1389353704
|
|
NM_000532.5(PCCB):c.730C>A (p.Leu244Ile)
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|
NM_000532.5(PCCB):c.733G>T (p.Gly245Cys)
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|
|
NM_000532.5(PCCB):c.734GTG[1] (p.Gly246del)
|
rs1553778892
|
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NM_000532.5(PCCB):c.737G>A (p.Gly246Asp)
|
|
|
NM_000532.5(PCCB):c.737G>T (p.Gly246Val)
|
rs2108197348
|
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NM_000532.5(PCCB):c.73G>A (p.Val25Ile)
|
|
|
NM_000532.5(PCCB):c.742A>C (p.Lys248Gln)
|
|
|
NM_000532.5(PCCB):c.748C>T (p.His250Tyr)
|
|
|
NM_000532.5(PCCB):c.749A>G (p.His250Arg)
|
rs1933813724
|
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NM_000532.5(PCCB):c.750C>T (p.His250=)
|
rs1255224715
|
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NM_000532.5(PCCB):c.751A>G (p.Thr251Ala)
|
|
|
NM_000532.5(PCCB):c.751_752del (p.Thr251fs)
|
rs2108197377
|
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NM_000532.5(PCCB):c.753C>T (p.Thr251=)
|
rs2108197383
|
|
NM_000532.5(PCCB):c.756_758del (p.Met253del)
|
|
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NM_000532.5(PCCB):c.757A>G (p.Met253Val)
|
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|
NM_000532.5(PCCB):c.763+12dup
|
|
|
NM_000532.5(PCCB):c.763+16G>A
|
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|
NM_000532.5(PCCB):c.763+3GA[4]
|
rs1553778916
|
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NM_000532.5(PCCB):c.763+7G>A
|
|
|
NM_000532.5(PCCB):c.763+8G>A
|
rs2108197414
|
|
NM_000532.5(PCCB):c.763+8G>C
|
rs2108197414
|
|
NM_000532.5(PCCB):c.764-10G>A
|
|
|
NM_000532.5(PCCB):c.764-10G>C
|
rs372617301
|
|
NM_000532.5(PCCB):c.764-11del
|
|
|
NM_000532.5(PCCB):c.764-16C>T
|
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|
NM_000532.5(PCCB):c.764-17G>T
|
|
|
NM_000532.5(PCCB):c.764-18T>G
|
|
|
NM_000532.5(PCCB):c.764-5C>A
|
rs1934010592
|
|
NM_000532.5(PCCB):c.764-7C>A
|
|
|
NM_000532.5(PCCB):c.764-7C>T
|
|
|
NM_000532.5(PCCB):c.765T>C (p.Gly255=)
|
rs2108202688
|
|
NM_000532.5(PCCB):c.768G>A (p.Val256=)
|
rs2108202690
|
|
NM_000532.5(PCCB):c.769G>A (p.Ala257Thr)
|
rs1197317905
|
|
NM_000532.5(PCCB):c.76dup (p.Arg26fs)
|
rs1941479615
|
|
NM_000532.5(PCCB):c.774C>T (p.His258=)
|
rs141615209
|
|
NM_000532.5(PCCB):c.77_183+30delinsCC
|
|
|
NM_000532.5(PCCB):c.780T>G (p.Ala260=)
|
|
|
NM_000532.5(PCCB):c.786A>G (p.Glu262=)
|
|
|
NM_000532.5(PCCB):c.78C>A (p.Arg26=)
|
|
|
NM_000532.5(PCCB):c.78C>T (p.Arg26=)
|
|
|
NM_000532.5(PCCB):c.791A>G (p.Asp264Gly)
|
rs1560017781
|
|
NM_000532.5(PCCB):c.793G>A (p.Val265Ile)
|
|
|
NM_000532.5(PCCB):c.799G>T (p.Ala267Ser)
|
|
|
NM_000532.5(PCCB):c.808A>G (p.Asn270Asp)
|
|
|
NM_000532.5(PCCB):c.809A>G (p.Asn270Ser)
|
rs1234137372
|
|
NM_000532.5(PCCB):c.811C>T (p.Leu271Phe)
|
|
|
NM_000532.5(PCCB):c.814C>A (p.Arg272=)
|
|
|
NM_000532.5(PCCB):c.816G>A (p.Arg272=)
|
|
|
NM_000532.5(PCCB):c.816G>C (p.Arg272=)
|
rs762223074
|
|
NM_000532.5(PCCB):c.816G>T (p.Arg272=)
|
|
|
NM_000532.5(PCCB):c.819T>G (p.Asp273Glu)
|
|
|
NM_000532.5(PCCB):c.819_843delinsGATTACACGGG (p.Asp273fs)
|
|
|
NM_000532.5(PCCB):c.821T>A (p.Phe274Tyr)
|
|
|
NM_000532.5(PCCB):c.821T>C (p.Phe274Ser)
|
|
|
NM_000532.5(PCCB):c.828C>T (p.Asn276=)
|
|
|
NM_000532.5(PCCB):c.82C>T (p.Leu28Phe)
|
|
|
NM_000532.5(PCCB):c.830A>G (p.Tyr277Cys)
|
|
|
NM_000532.5(PCCB):c.830A>T (p.Tyr277Phe)
|
rs2108202806
|
|
NM_000532.5(PCCB):c.835C>T (p.Pro279Ser)
|
|
|
NM_000532.5(PCCB):c.836C>G (p.Pro279Arg)
|
rs780837200
|
|
NM_000532.5(PCCB):c.837C>G (p.Pro279=)
|
|
|
NM_000532.5(PCCB):c.838dup (p.Leu280fs)
|
rs769968548
|
|
NM_000532.5(PCCB):c.840G>A (p.Leu280=)
|
rs1934015229
|
|
NM_000532.5(PCCB):c.847C>T (p.Gln283Ter)
|
|
|
NM_000532.5(PCCB):c.852C>T (p.Asp284=)
|
rs1298793935
|
|
NM_000532.5(PCCB):c.854C>T (p.Pro285Leu)
|
|
|
NM_000532.5(PCCB):c.861C>A (p.Pro287=)
|
rs779786032
|
|
NM_000532.5(PCCB):c.861C>T (p.Pro287=)
|
rs779786032
|
|
NM_000532.5(PCCB):c.862G>A (p.Val288Ile)
|
rs201984177
|
|
NM_000532.5(PCCB):c.864C>A (p.Val288=)
|
rs1934016889
|
|
NM_000532.5(PCCB):c.865C>A (p.Arg289Ser)
|
rs771935604
|
|
NM_000532.5(PCCB):c.866G>A (p.Arg289His)
|
rs532142254
|
|
NM_000532.5(PCCB):c.866G>C (p.Arg289Pro)
|
|
|
NM_000532.5(PCCB):c.875A>G (p.His292Arg)
|
rs2108202909
|
|
NM_000532.5(PCCB):c.876C>T (p.His292=)
|
rs776893713
|
|
NM_000532.5(PCCB):c.877G>A (p.Asp293Asn)
|
rs183013046
|
|
NM_000532.5(PCCB):c.884+10A>G
|
rs2108202951
|
|
NM_000532.5(PCCB):c.884+11G>A
|
|
|
NM_000532.5(PCCB):c.884+14C>A
|
|
|
NM_000532.5(PCCB):c.884+16dup
|
|
|
NM_000532.5(PCCB):c.884+19C>G
|
|
|
NM_000532.5(PCCB):c.884+8G>A
|
rs187345727
|
|
NM_000532.5(PCCB):c.884+8G>T
|
rs187345727
|
|
NM_000532.5(PCCB):c.885-11dup
|
|
|
NM_000532.5(PCCB):c.885-17C>G
|
|
|
NM_000532.5(PCCB):c.885-18C>T
|
rs1482092717
|
|
NM_000532.5(PCCB):c.885-3A>C
|
|
|
NM_000532.5(PCCB):c.885-6C>G
|
|
|
NM_000532.5(PCCB):c.885-6C>T
|
|
|
NM_000532.5(PCCB):c.88A>G (p.Ser30Gly)
|
|
|
NM_000532.5(PCCB):c.890G>T (p.Arg297Leu)
|
rs147379583
|
|
NM_000532.5(PCCB):c.892C>T (p.Leu298=)
|
|
|
NM_000532.5(PCCB):c.894G>A (p.Leu298=)
|
rs746964439
|
|
NM_000532.5(PCCB):c.912A>G (p.Thr304=)
|
rs778118663
|
|
NM_000532.5(PCCB):c.913A>G (p.Ile305Val)
|
|
|
NM_000532.5(PCCB):c.919C>T (p.Pro307Ser)
|
|
|
NM_000532.5(PCCB):c.927A>C (p.Glu309Asp)
|
rs1934256655
|
|
NM_000532.5(PCCB):c.933C>G (p.Thr311=)
|
rs776005016
|
|
NM_000532.5(PCCB):c.93_94insTTC (p.Gln31_Ala32insPhe)
|
rs2108127897
|
|
NM_000532.5(PCCB):c.941A>C (p.Tyr314Ser)
|
rs148578333
|
|
NM_000532.5(PCCB):c.946A>G (p.Met316Val)
|
|
|
NM_000532.5(PCCB):c.947T>G (p.Met316Arg)
|
rs2108208811
|
|
NM_000532.5(PCCB):c.950T>G (p.Val317Gly)
|
|
|
NM_000532.5(PCCB):c.951G>A (p.Val317=)
|
rs1366112071
|
|
NM_000532.5(PCCB):c.952G>T (p.Asp318Tyr)
|
|
|
NM_000532.5(PCCB):c.957C>G (p.Ile319Met)
|
rs868483670
|
|
NM_000532.5(PCCB):c.957C>T (p.Ile319=)
|
rs868483670
|
|
NM_000532.5(PCCB):c.95C>T (p.Ala32Val)
|
rs2108127907
|
|
NM_000532.5(PCCB):c.963C>T (p.His321=)
|
rs754807564
|
|
NM_000532.5(PCCB):c.965C>T (p.Ser322Phe)
|
rs1034824113
|
|
NM_000532.5(PCCB):c.966+10A>G
|
rs2108208861
|
|
NM_000532.5(PCCB):c.966+13T>C
|
|
|
NM_000532.5(PCCB):c.966+15T>C
|
|
|
NM_000532.5(PCCB):c.966+18T>A
|
|
|
NM_000532.5(PCCB):c.966+18T>C
|
rs756231828
|
|
NM_000532.5(PCCB):c.966+18_966+21del
|
|
|
NM_000532.5(PCCB):c.966+19T>C
|
rs1472403904
|
|
NM_000532.5(PCCB):c.966+20G>T
|
|
|
NM_000532.5(PCCB):c.966+5G>A
|
rs1255284441
|
|
NM_000532.5(PCCB):c.966+8C>T
|
|
|
NM_000532.5(PCCB):c.967-10A>T
|
|
|
NM_000532.5(PCCB):c.967-18G>A
|
rs2108226497
|
|
NM_000532.5(PCCB):c.967-4G>T
|
rs2108226511
|
|
NM_000532.5(PCCB):c.967-5T>G
|
rs1934917985
|
|
NM_000532.5(PCCB):c.967-7C>T
|
|
|
NM_000532.5(PCCB):c.967-8dup
|
|
|
NM_000532.5(PCCB):c.96C>A (p.Ala32=)
|
rs2108127912
|
|
NM_000532.5(PCCB):c.96C>T (p.Ala32=)
|
rs2108127912
|
|
NM_000532.5(PCCB):c.972TGA[1] (p.Asp325del)
|
rs796052023
|
|
NM_000532.5(PCCB):c.979C>G (p.Arg327Gly)
|
|
|
NM_000532.5(PCCB):c.980G>A (p.Arg327His)
|
|
|
NM_000532.5(PCCB):c.985T>G (p.Phe329Val)
|
|
|
NM_000532.5(PCCB):c.990dup (p.Glu331Ter)
|
rs786200983
|
|
NM_000532.5(PCCB):c.991G>T (p.Glu331Ter)
|
rs2108226567
|
|
NM_000532.5(PCCB):c.99C>G (p.Thr33=)
|
|
|
NM_000532.5(PCCB):c.99C>T (p.Thr33=)
|
|
|
NM_000532.5(PCCB):c.9G>A (p.Ala3=)
|
rs763025114
|
|