NM_000532.4(PCCB):c.-37C>T
|
rs145734157
|
0.00591
|
NM_000532.5(PCCB):c.546G>A (p.Arg182=)
|
rs61598773
|
0.00533
|
NM_000532.5(PCCB):c.373-1292C>T
|
rs117604575
|
0.00188
|
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.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.429+7G>A
|
rs201986472
|
0.00073
|
NM_000532.5(PCCB):c.1421A>G (p.Lys474Arg)
|
rs145628302
|
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.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.654+3A>C
|
rs199886085
|
0.00014
|
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.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.941A>G (p.Tyr314Cys)
|
rs148578333
|
0.00007
|
NM_000532.5(PCCB):c.1198+11G>C
|
rs952515018
|
0.00006
|
NM_000532.5(PCCB):c.66C>G (p.Arg22=)
|
rs759836996
|
0.00006
|
NM_000532.5(PCCB):c.966+17T>C
|
rs752703797
|
0.00006
|
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.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.1541G>A (p.Arg514Gln)
|
rs577625696
|
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.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.663C>G (p.Ser221=)
|
rs771455499
|
0.00004
|
NM_000532.5(PCCB):c.1399-5C>T
|
rs575227657
|
0.00003
|
NM_000532.5(PCCB):c.1569C>G (p.Ala523=)
|
rs1418405958
|
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.654+12G>T
|
rs770141659
|
0.00003
|
NM_000532.5(PCCB):c.855G>A (p.Pro285=)
|
rs982512877
|
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.1090+18T>C
|
rs775309894
|
0.00002
|
NM_000532.5(PCCB):c.1091-4C>G
|
rs759283485
|
0.00002
|
NM_000532.5(PCCB):c.12A>G (p.Ala4=)
|
rs1476876445
|
0.00002
|
NM_000532.5(PCCB):c.1317T>C (p.Tyr439=)
|
rs199541514
|
0.00002
|
NM_000532.5(PCCB):c.1338C>T (p.His446=)
|
rs958149789
|
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.45C>T (p.Ser15=)
|
rs754664563
|
0.00002
|
NM_000532.5(PCCB):c.480C>T (p.Asp160=)
|
rs1454839953
|
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.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.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.1300-11A>G
|
rs200406126
|
0.00001
|
NM_000532.5(PCCB):c.1302C>T (p.Ala434=)
|
rs755024380
|
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.1383A>C (p.Ala461=)
|
rs1354285306
|
0.00001
|
NM_000532.5(PCCB):c.1399-10C>T
|
rs774180307
|
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.1499-6C>T
|
rs769854818
|
0.00001
|
NM_000532.5(PCCB):c.1521A>G (p.Gln507=)
|
rs774461715
|
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.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.321G>C (p.Val107=)
|
rs201915067
|
0.00001
|
NM_000532.5(PCCB):c.332G>A (p.Arg111Gln)
|
rs757534748
|
0.00001
|
NM_000532.5(PCCB):c.348A>G (p.Gly116=)
|
rs1057522223
|
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.414C>T (p.Ala138=)
|
rs781142631
|
0.00001
|
NM_000532.5(PCCB):c.483T>G (p.Ser161=)
|
rs751200837
|
0.00001
|
NM_000532.5(PCCB):c.507A>C (p.Gly169=)
|
rs1334504053
|
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.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.654+14G>T
|
rs1457950469
|
0.00001
|
NM_000532.5(PCCB):c.660C>T (p.Thr220=)
|
rs376645261
|
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.741C>T (p.Ala247=)
|
rs191115697
|
0.00001
|
NM_000532.5(PCCB):c.747C>T (p.Thr249=)
|
rs746448544
|
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.801C>T (p.Ala267=)
|
rs759508806
|
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.909C>T (p.Asp303=)
|
rs375740382
|
0.00001
|
NM_000532.5(PCCB):c.942C>T (p.Tyr314=)
|
rs572246667
|
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.975T>C (p.Asp325=)
|
rs746146640
|
0.00001
|
NM_000532.5(PCCB):c.978G>A (p.Glu326=)
|
rs1419967211
|
0.00001
|
NM_000532.5(PCCB):c.1002C>A (p.Pro334=)
|
rs370304541
|
|
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.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.1044T>C (p.Asn348=)
|
|
|
NM_000532.5(PCCB):c.1047G>A (p.Gly349=)
|
rs2108226680
|
|
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.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+7T>C
|
rs2108226731
|
|
NM_000532.5(PCCB):c.1090+8G>A
|
rs2108226738
|
|
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.1091-4C>T
|
rs759283485
|
|
NM_000532.5(PCCB):c.1091-8C>T
|
|
|
NM_000532.5(PCCB):c.1091-9T>C
|
|
|
NM_000532.5(PCCB):c.1119A>G (p.Lys373=)
|
rs2108237811
|
|
NM_000532.5(PCCB):c.1134C>A (p.Val378=)
|
|
|
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.1164C>T (p.Leu388=)
|
|
|
NM_000532.5(PCCB):c.1167C>A (p.Ile389=)
|
|
|
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.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.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.1199-20T>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.1228C>A (p.Arg410=)
|
rs121964959
|
|
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.1254A>G (p.Ala418=)
|
|
|
NM_000532.5(PCCB):c.1269T>A (p.Thr423=)
|
rs2108238461
|
|
NM_000532.5(PCCB):c.1281C>G (p.Val427=)
|
|
|
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.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+7A>T
|
|
|
NM_000532.5(PCCB):c.1299+9C>T
|
|
|
NM_000532.5(PCCB):c.129C>T (p.Arg43=)
|
|
|
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.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.1350T>C (p.Asp450=)
|
rs1935374974
|
|
NM_000532.5(PCCB):c.1356C>T (p.Asn452=)
|
rs1455298516
|
|
NM_000532.5(PCCB):c.135C>A (p.Thr45=)
|
rs1576397628
|
|
NM_000532.5(PCCB):c.135C>G (p.Thr45=)
|
|
|
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.1395A>G (p.Ala465=)
|
|
|
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+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.13T>C (p.Leu5=)
|
rs1559991921
|
|
NM_000532.5(PCCB):c.1404T>C (p.Ala468=)
|
|
|
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.1425G>T (p.Gly475=)
|
|
|
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.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.1482C>T (p.Phe494=)
|
rs1179000221
|
|
NM_000532.5(PCCB):c.1491A>C (p.Ala497=)
|
|
|
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+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.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.1515C>T (p.Ile505=)
|
rs2108241650
|
|
NM_000532.5(PCCB):c.1518C>T (p.Ile506=)
|
|
|
NM_000532.5(PCCB):c.1524T>G (p.Pro508=)
|
|
|
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.1542A>C (p.Arg514=)
|
rs1337219671
|
|
NM_000532.5(PCCB):c.1564T>C (p.Leu522=)
|
rs2108241717
|
|
NM_000532.5(PCCB):c.1566G>A (p.Leu522=)
|
|
|
NM_000532.5(PCCB):c.1584A>G (p.Gln528=)
|
|
|
NM_000532.5(PCCB):c.1587T>C (p.Arg529=)
|
|
|
NM_000532.5(PCCB):c.159C>T (p.Arg53=)
|
rs776900764
|
|
NM_000532.5(PCCB):c.1605A>G (p.Ala535=)
|
|
|
NM_000532.5(PCCB):c.1611T>A (p.Ile537=)
|
rs2108241808
|
|
NM_000532.5(PCCB):c.1615T>C (p.Leu539=)
|
|
|
NM_000532.5(PCCB):c.165T>C (p.Ile55=)
|
|
|
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.183+12G>A
|
|
|
NM_000532.5(PCCB):c.183+13G>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+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+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.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.210C>T (p.Ile70=)
|
rs1195573163
|
|
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.231C>G (p.Gly77=)
|
|
|
NM_000532.5(PCCB):c.231C>T (p.Gly77=)
|
rs2108137338
|
|
NM_000532.5(PCCB):c.237T>C (p.Phe79=)
|
|
|
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.27G>C (p.Ala9=)
|
rs1402404407
|
|
NM_000532.5(PCCB):c.27G>T (p.Ala9=)
|
|
|
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+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.304-20T>C
|
|
|
NM_000532.5(PCCB):c.304-20T>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.304-9T>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.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.336C>T (p.Gly112=)
|
|
|
NM_000532.5(PCCB):c.342C>A (p.Ile114=)
|
|
|
NM_000532.5(PCCB):c.360T>C (p.Tyr120=)
|
rs1198278808
|
|
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.373-1271del
|
rs1553774493
|
|
NM_000532.5(PCCB):c.373-1281G>A
|
rs1553774486
|
|
NM_000532.5(PCCB):c.373-1297_373-1295del
|
rs1553774476
|
|
NM_000532.5(PCCB):c.373-17T>A
|
|
|
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.387T>C (p.Phe129=)
|
rs1576405957
|
|
NM_000532.5(PCCB):c.397C>T (p.Leu133=)
|
rs1941791843
|
|
NM_000532.5(PCCB):c.39G>A (p.Arg13=)
|
|
|
NM_000532.5(PCCB):c.414C>G (p.Ala138=)
|
rs781142631
|
|
NM_000532.5(PCCB):c.417A>G (p.Gln139=)
|
|
|
NM_000532.5(PCCB):c.423C>A (p.Ile141=)
|
rs2108144487
|
|
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+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.430-14C>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.438C>T (p.Asp146=)
|
|
|
NM_000532.5(PCCB):c.444C>T (p.Ala148=)
|
|
|
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.459T>A (p.Ala153=)
|
rs2108146658
|
|
NM_000532.5(PCCB):c.462A>G (p.Pro154=)
|
|
|
NM_000532.5(PCCB):c.471G>T (p.Gly157=)
|
rs2108146680
|
|
NM_000532.5(PCCB):c.474G>A (p.Leu158=)
|
rs2108146690
|
|
NM_000532.5(PCCB):c.486G>A (p.Gly162=)
|
|
|
NM_000532.5(PCCB):c.486G>T (p.Gly162=)
|
|
|
NM_000532.5(PCCB):c.495G>T (p.Arg165=)
|
|
|
NM_000532.5(PCCB):c.49C>T (p.Leu17=)
|
rs200185747
|
|
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.528T>C (p.Tyr176=)
|
rs2108146812
|
|
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+8A>G
|
|
|
NM_000532.5(PCCB):c.544-10G>C
|
|
|
NM_000532.5(PCCB):c.555G>C (p.Thr185=)
|
rs543691110
|
|
NM_000532.5(PCCB):c.564A>G (p.Gly188=)
|
|
|
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.594C>G (p.Gly198=)
|
rs1933215700
|
|
NM_000532.5(PCCB):c.597A>C (p.Pro199=)
|
rs773799305
|
|
NM_000532.5(PCCB):c.597A>T (p.Pro199=)
|
|
|
NM_000532.5(PCCB):c.612C>T (p.Ala204=)
|
rs201054265
|
|
NM_000532.5(PCCB):c.642G>T (p.Thr214=)
|
rs148056730
|
|
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+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.655-7del
|
|
|
NM_000532.5(PCCB):c.655-8T>C
|
|
|
NM_000532.5(PCCB):c.655-9T>C
|
|
|
NM_000532.5(PCCB):c.663C>T (p.Ser221=)
|
rs771455499
|
|
NM_000532.5(PCCB):c.667C>T (p.Leu223=)
|
rs1290994455
|
|
NM_000532.5(PCCB):c.672C>T (p.Phe224=)
|
|
|
NM_000532.5(PCCB):c.675C>T (p.Ile225=)
|
rs2108197231
|
|
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
|
|
NM_000532.5(PCCB):c.6G>C (p.Ala2=)
|
|
|
NM_000532.5(PCCB):c.702C>G (p.Val234=)
|
|
|
NM_000532.5(PCCB):c.711G>A (p.Glu237=)
|
|
|
NM_000532.5(PCCB):c.72G>A (p.Ala24=)
|
rs1389353704
|
|
NM_000532.5(PCCB):c.72G>T (p.Ala24=)
|
rs1389353704
|
|
NM_000532.5(PCCB):c.750C>T (p.His250=)
|
rs1255224715
|
|
NM_000532.5(PCCB):c.753C>T (p.Thr251=)
|
rs2108197383
|
|
NM_000532.5(PCCB):c.763+12dup
|
|
|
NM_000532.5(PCCB):c.763+16G>A
|
|
|
NM_000532.5(PCCB):c.763+3GA[4]
|
rs1553778916
|
|
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
|
|
|
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.774C>T (p.His258=)
|
rs141615209
|
|
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.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.828C>T (p.Asn276=)
|
|
|
NM_000532.5(PCCB):c.837C>G (p.Pro279=)
|
|
|
NM_000532.5(PCCB):c.840G>A (p.Leu280=)
|
rs1934015229
|
|
NM_000532.5(PCCB):c.852C>T (p.Asp284=)
|
rs1298793935
|
|
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.876C>T (p.His292=)
|
rs776893713
|
|
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.885-17C>G
|
|
|
NM_000532.5(PCCB):c.885-18C>T
|
rs1482092717
|
|
NM_000532.5(PCCB):c.885-6C>T
|
|
|
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.933C>G (p.Thr311=)
|
rs776005016
|
|
NM_000532.5(PCCB):c.951G>A (p.Val317=)
|
rs1366112071
|
|
NM_000532.5(PCCB):c.957C>T (p.Ile319=)
|
rs868483670
|
|
NM_000532.5(PCCB):c.963C>T (p.His321=)
|
rs754807564
|
|
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+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.980G>A (p.Arg327His)
|
|
|
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
|
|