NM_001042465.2(PSAP):c.-130T>C
|
rs12261323
|
0.14433
|
NM_002778.4(PSAP):c.204C>T (p.Asp68=)
|
rs143981174
|
0.00484
|
NM_002778.4(PSAP):c.1380C>T (p.Pro460=)
|
rs1049882
|
0.00284
|
NM_002778.4(PSAP):c.174+9C>T
|
rs141133813
|
0.00090
|
NM_002778.4(PSAP):c.41-13G>C
|
rs138010978
|
0.00055
|
NM_002778.4(PSAP):c.88G>T (p.Ala30Ser)
|
rs144942998
|
0.00051
|
NM_002778.4(PSAP):c.966G>A (p.Val322=)
|
rs139413990
|
0.00037
|
NM_002778.4(PSAP):c.578A>G (p.Asp193Gly)
|
rs138636858
|
0.00036
|
NM_002778.4(PSAP):c.-29C>T
|
rs201780377
|
0.00035
|
NM_002778.4(PSAP):c.721-13T>C
|
rs370875535
|
0.00031
|
NM_002778.4(PSAP):c.117G>A (p.Ala39=)
|
rs200836594
|
0.00029
|
NM_002778.4(PSAP):c.250-5C>T
|
rs370622849
|
0.00022
|
NM_002778.4(PSAP):c.582T>C (p.Asn194=)
|
rs150177878
|
0.00022
|
NM_002778.4(PSAP):c.1374C>T (p.Tyr458=)
|
rs146925179
|
0.00021
|
NM_002778.4(PSAP):c.1476T>C (p.Thr492=)
|
rs139178900
|
0.00019
|
NM_002778.4(PSAP):c.208G>T (p.Val70Phe)
|
rs750239809
|
0.00019
|
NM_002778.4(PSAP):c.1338T>C (p.Pro446=)
|
rs138217875
|
0.00018
|
NM_002778.4(PSAP):c.577-14T>G
|
rs756487651
|
0.00013
|
NM_002778.4(PSAP):c.1006-12C>T
|
rs367693244
|
0.00011
|
NM_002778.4(PSAP):c.855C>T (p.Ala285=)
|
rs1040901231
|
0.00011
|
NM_002778.4(PSAP):c.1006-11G>A
|
rs375537927
|
0.00009
|
NM_002778.4(PSAP):c.1092C>T (p.Tyr364=)
|
rs200226479
|
0.00009
|
NM_002778.4(PSAP):c.175-19C>A
|
rs150679635
|
0.00009
|
NM_002778.4(PSAP):c.1350+9C>T
|
rs747430592
|
0.00008
|
NM_002778.4(PSAP):c.588C>T (p.Asp196=)
|
rs374869360
|
0.00008
|
NM_002778.4(PSAP):c.623T>G (p.Ile208Ser)
|
rs200319381
|
0.00008
|
NM_002778.4(PSAP):c.864C>T (p.Ala288=)
|
rs747491605
|
0.00007
|
NM_002778.4(PSAP):c.960C>T (p.Phe320=)
|
rs369725602
|
0.00007
|
NM_002778.4(PSAP):c.1017C>T (p.Leu339=)
|
rs146778046
|
0.00006
|
NM_002778.4(PSAP):c.1215C>T (p.Asp405=)
|
rs567165839
|
0.00006
|
NM_002778.4(PSAP):c.1311G>A (p.Glu437=)
|
rs149525964
|
0.00006
|
NM_002778.4(PSAP):c.1389C>T (p.Ile463=)
|
rs762811199
|
0.00005
|
NM_002778.4(PSAP):c.41-17_41-9dup
|
rs768077397
|
0.00005
|
NM_002778.4(PSAP):c.549C>T (p.Asp183=)
|
rs142002239
|
0.00005
|
NM_002778.4(PSAP):c.852C>T (p.Pro284=)
|
rs370435627
|
0.00005
|
NM_002778.4(PSAP):c.1281C>T (p.Ser427=)
|
rs529776324
|
0.00004
|
NM_002778.4(PSAP):c.1539+20G>A
|
rs372772165
|
0.00004
|
NM_002778.4(PSAP):c.1540-8C>G
|
rs997903652
|
0.00004
|
NM_002778.4(PSAP):c.414C>T (p.Cys138=)
|
rs769564352
|
0.00004
|
NM_002778.4(PSAP):c.576+11G>A
|
rs371681572
|
0.00004
|
NM_002778.4(PSAP):c.6C>T (p.Tyr2=)
|
rs774482765
|
0.00004
|
NM_002778.4(PSAP):c.1050G>A (p.Pro350=)
|
rs761826289
|
0.00003
|
NM_002778.4(PSAP):c.1161C>G (p.Leu387=)
|
rs927307280
|
0.00003
|
NM_002778.4(PSAP):c.1287G>A (p.Lys429=)
|
rs1295313912
|
0.00003
|
NM_002778.4(PSAP):c.1341C>T (p.Tyr447=)
|
rs572916661
|
0.00003
|
NM_002778.4(PSAP):c.1350+15G>A
|
rs574811418
|
0.00003
|
NM_002778.4(PSAP):c.174+10G>A
|
rs375887783
|
0.00003
|
NM_002778.4(PSAP):c.336C>T (p.Ser112=)
|
rs370977178
|
0.00003
|
NM_002778.4(PSAP):c.621C>T (p.Asp207=)
|
rs140702696
|
0.00003
|
NM_002778.4(PSAP):c.798G>A (p.Ala266=)
|
rs199672678
|
0.00003
|
NM_002778.4(PSAP):c.894G>A (p.Leu298=)
|
rs150048951
|
0.00003
|
NM_002778.4(PSAP):c.1020C>T (p.Asp340=)
|
rs113679008
|
0.00002
|
NM_002778.4(PSAP):c.1041G>A (p.Ser347=)
|
rs747117207
|
0.00002
|
NM_002778.4(PSAP):c.1114C>T (p.Leu372=)
|
rs745951723
|
0.00002
|
NM_002778.4(PSAP):c.1197C>T (p.His399=)
|
rs748761213
|
0.00002
|
NM_002778.4(PSAP):c.1233G>T (p.Val411=)
|
rs751867103
|
0.00002
|
NM_002778.4(PSAP):c.126C>T (p.Cys42=)
|
rs372943091
|
0.00002
|
NM_002778.4(PSAP):c.153C>T (p.Thr51=)
|
rs11555016
|
0.00002
|
NM_002778.4(PSAP):c.354G>C (p.Leu118=)
|
rs759556759
|
0.00002
|
NM_002778.4(PSAP):c.40+12G>A
|
rs886047153
|
0.00002
|
NM_002778.4(PSAP):c.405C>T (p.Leu135=)
|
rs377181245
|
0.00002
|
NM_002778.4(PSAP):c.48C>T (p.Ala16=)
|
rs199808371
|
0.00002
|
NM_002778.4(PSAP):c.507C>T (p.Ala169=)
|
rs765156362
|
0.00002
|
NM_002778.4(PSAP):c.778-8C>G
|
rs750717205
|
0.00002
|
NM_002778.4(PSAP):c.849C>A (p.Val283=)
|
rs747705833
|
0.00002
|
NM_002778.4(PSAP):c.879C>T (p.Ile293=)
|
rs1199611460
|
0.00002
|
NM_002778.4(PSAP):c.910-13A>G
|
rs370155869
|
0.00002
|
NM_002778.4(PSAP):c.1006-20G>A
|
rs751608981
|
0.00001
|
NM_002778.4(PSAP):c.1006-7G>A
|
rs372177796
|
0.00001
|
NM_002778.4(PSAP):c.1029C>T (p.Asp343=)
|
rs199650747
|
0.00001
|
NM_002778.4(PSAP):c.1062G>A (p.Ser354=)
|
rs1486812963
|
0.00001
|
NM_002778.4(PSAP):c.1089G>A (p.Thr363=)
|
rs1307052772
|
0.00001
|
NM_002778.4(PSAP):c.1128C>T (p.Val376=)
|
rs1287661070
|
0.00001
|
NM_002778.4(PSAP):c.1146C>T (p.Cys382=)
|
rs573095617
|
0.00001
|
NM_002778.4(PSAP):c.1170C>T (p.Gly390=)
|
rs757887601
|
0.00001
|
NM_002778.4(PSAP):c.1173G>A (p.Thr391=)
|
rs368085481
|
0.00001
|
NM_002778.4(PSAP):c.1179G>A (p.Leu393=)
|
rs761017736
|
0.00001
|
NM_002778.4(PSAP):c.1227C>T (p.Cys409=)
|
rs147030327
|
0.00001
|
NM_002778.4(PSAP):c.12C>T (p.Leu4=)
|
rs1457254996
|
0.00001
|
NM_002778.4(PSAP):c.1323C>T (p.Ser441=)
|
rs1419823465
|
0.00001
|
NM_002778.4(PSAP):c.1350+10G>A
|
rs542537706
|
0.00001
|
NM_002778.4(PSAP):c.1350+8C>T
|
rs781743080
|
0.00001
|
NM_002778.4(PSAP):c.1395C>A (p.Ile465=)
|
rs1216069938
|
0.00001
|
NM_002778.4(PSAP):c.141C>T (p.His47=)
|
rs759428533
|
0.00001
|
NM_002778.4(PSAP):c.1422C>T (p.Phe474=)
|
rs528318545
|
0.00001
|
NM_002778.4(PSAP):c.1431+11C>G
|
rs374937004
|
0.00001
|
NM_002778.4(PSAP):c.1431+7C>G
|
rs1396852731
|
0.00001
|
NM_002778.4(PSAP):c.1432-4A>G
|
rs775086571
|
0.00001
|
NM_002778.4(PSAP):c.1540-10C>T
|
rs531023925
|
0.00001
|
NM_002778.4(PSAP):c.1540-5A>G
|
rs777561159
|
0.00001
|
NM_002778.4(PSAP):c.1545C>T (p.Val515=)
|
rs755848707
|
0.00001
|
NM_002778.4(PSAP):c.175-5C>G
|
rs771134177
|
0.00001
|
NM_002778.4(PSAP):c.186C>T (p.Pro62=)
|
rs749422368
|
0.00001
|
NM_002778.4(PSAP):c.19C>T (p.Leu7=)
|
rs768373930
|
0.00001
|
NM_002778.4(PSAP):c.213C>T (p.Thr71=)
|
rs765022811
|
0.00001
|
NM_002778.4(PSAP):c.249+10G>A
|
rs1454831195
|
0.00001
|
NM_002778.4(PSAP):c.249+15G>A
|
rs749419007
|
0.00001
|
NM_002778.4(PSAP):c.249+9C>T
|
rs771189289
|
0.00001
|
NM_002778.4(PSAP):c.250-12G>A
|
rs886047152
|
0.00001
|
NM_002778.4(PSAP):c.250-4G>A
|
rs568499058
|
0.00001
|
NM_002778.4(PSAP):c.268T>C (p.Leu90=)
|
rs954076104
|
0.00001
|
NM_002778.4(PSAP):c.294G>A (p.Pro98=)
|
rs752253216
|
0.00001
|
NM_002778.4(PSAP):c.351C>A (p.Ile117=)
|
rs1411937746
|
0.00001
|
NM_002778.4(PSAP):c.376-15T>C
|
rs1160181309
|
0.00001
|
NM_002778.4(PSAP):c.376-6C>T
|
rs1246858301
|
0.00001
|
NM_002778.4(PSAP):c.376-9T>C
|
rs1008892591
|
0.00001
|
NM_002778.4(PSAP):c.423C>T (p.Leu141=)
|
rs780891597
|
0.00001
|
NM_002778.4(PSAP):c.438A>G (p.Ala146=)
|
rs758862885
|
0.00001
|
NM_002778.4(PSAP):c.489C>T (p.Asp163=)
|
rs762802593
|
0.00001
|
NM_002778.4(PSAP):c.54G>A (p.Pro18=)
|
rs778317867
|
0.00001
|
NM_002778.4(PSAP):c.576+10C>T
|
rs765209148
|
0.00001
|
NM_002778.4(PSAP):c.591T>G (p.Val197=)
|
rs1387039570
|
0.00001
|
NM_002778.4(PSAP):c.60T>C (p.Leu20=)
|
rs188252882
|
0.00001
|
NM_002778.4(PSAP):c.663C>T (p.Ala221=)
|
rs780126150
|
0.00001
|
NM_002778.4(PSAP):c.687G>A (p.Glu229=)
|
rs752555251
|
0.00001
|
NM_002778.4(PSAP):c.717C>T (p.Asp239=)
|
rs879066464
|
0.00001
|
NM_002778.4(PSAP):c.721-9T>C
|
rs1175109637
|
0.00001
|
NM_002778.4(PSAP):c.732T>C (p.Tyr244=)
|
rs146732171
|
0.00001
|
NM_002778.4(PSAP):c.777+11C>T
|
rs749373571
|
0.00001
|
NM_002778.4(PSAP):c.777+12G>A
|
rs533983482
|
0.00001
|
NM_002778.4(PSAP):c.777+18C>T
|
rs779957575
|
0.00001
|
NM_002778.4(PSAP):c.807G>C (p.Gly269=)
|
rs1268577104
|
0.00001
|
NM_002778.4(PSAP):c.910-7T>C
|
rs758811581
|
0.00001
|
NM_002778.4(PSAP):c.912G>A (p.Lys304=)
|
rs1415619569
|
0.00001
|
NM_002778.4(PSAP):c.915C>T (p.His305=)
|
rs377732178
|
0.00001
|
NM_002778.4(PSAP):c.930G>A (p.Lys310=)
|
rs939130175
|
0.00001
|
NM_002778.4(PSAP):c.9C>T (p.Ala3=)
|
rs769671646
|
0.00001
|
NM_002778.4(PSAP):c.1005+12T>C
|
|
|
NM_002778.4(PSAP):c.1005+13C>G
|
|
|
NM_002778.4(PSAP):c.1005+15T>C
|
|
|
NM_002778.4(PSAP):c.1005+19A>G
|
|
|
NM_002778.4(PSAP):c.1006-11G>C
|
|
|
NM_002778.4(PSAP):c.1006-11G>T
|
|
|
NM_002778.4(PSAP):c.1006-11GT[2]
|
rs1238736249
|
|
NM_002778.4(PSAP):c.1006-14C>T
|
|
|
NM_002778.4(PSAP):c.1006-16C>G
|
|
|
NM_002778.4(PSAP):c.1006-19A>T
|
|
|
NM_002778.4(PSAP):c.1006-9G>A
|
|
|
NM_002778.4(PSAP):c.1017C>G (p.Leu339=)
|
rs146778046
|
|
NM_002778.4(PSAP):c.1045C>T (p.Leu349=)
|
rs780071643
|
|
NM_002778.4(PSAP):c.1050G>C (p.Pro350=)
|
|
|
NM_002778.4(PSAP):c.1050G>T (p.Pro350=)
|
|
|
NM_002778.4(PSAP):c.1053G>A (p.Lys351=)
|
|
|
NM_002778.4(PSAP):c.1059G>C (p.Leu353=)
|
|
|
NM_002778.4(PSAP):c.1065A>G (p.Glu355=)
|
|
|
NM_002778.4(PSAP):c.1077G>A (p.Glu359=)
|
rs2133031778
|
|
NM_002778.4(PSAP):c.1083G>A (p.Val361=)
|
rs2133031749
|
|
NM_002778.4(PSAP):c.1089G>C (p.Thr363=)
|
rs1307052772
|
|
NM_002778.4(PSAP):c.1095C>T (p.Gly365=)
|
|
|
NM_002778.4(PSAP):c.1104C>T (p.Ile368=)
|
|
|
NM_002778.4(PSAP):c.1107G>C (p.Leu369=)
|
|
|
NM_002778.4(PSAP):c.1110C>T (p.Ser370=)
|
|
|
NM_002778.4(PSAP):c.1113C>T (p.Ile371=)
|
|
|
NM_002778.4(PSAP):c.1117C>T (p.Leu373=)
|
rs1204739286
|
|
NM_002778.4(PSAP):c.1119G>A (p.Leu373=)
|
|
|
NM_002778.4(PSAP):c.1119G>T (p.Leu373=)
|
|
|
NM_002778.4(PSAP):c.1122G>A (p.Glu374=)
|
rs775169672
|
|
NM_002778.4(PSAP):c.1138C>T (p.Leu380=)
|
rs751199102
|
|
NM_002778.4(PSAP):c.1149C>T (p.Ser383=)
|
|
|
NM_002778.4(PSAP):c.114G>A (p.Thr38=)
|
rs748870680
|
|
NM_002778.4(PSAP):c.114G>C (p.Thr38=)
|
|
|
NM_002778.4(PSAP):c.1155G>A (p.Leu385=)
|
|
|
NM_002778.4(PSAP):c.1155G>T (p.Leu385=)
|
rs2133031527
|
|
NM_002778.4(PSAP):c.1158C>T (p.His386=)
|
rs2133031525
|
|
NM_002778.4(PSAP):c.1161C>T (p.Leu387=)
|
|
|
NM_002778.4(PSAP):c.1185A>C (p.Ala395=)
|
|
|
NM_002778.4(PSAP):c.1191C>G (p.Thr397=)
|
rs759580183
|
|
NM_002778.4(PSAP):c.1192+11G>A
|
|
|
NM_002778.4(PSAP):c.1192+12G>A
|
|
|
NM_002778.4(PSAP):c.1192+12G>T
|
|
|
NM_002778.4(PSAP):c.1192+13T>A
|
|
|
NM_002778.4(PSAP):c.1192+14G>T
|
|
|
NM_002778.4(PSAP):c.1192+17G>A
|
|
|
NM_002778.4(PSAP):c.1192+20C>T
|
|
|
NM_002778.4(PSAP):c.1192+7G>A
|
rs1842255678
|
|
NM_002778.4(PSAP):c.1192+7G>T
|
rs1842255678
|
|
NM_002778.4(PSAP):c.1193-11C>G
|
rs745471135
|
|
NM_002778.4(PSAP):c.1193-12C>A
|
rs1389422529
|
|
NM_002778.4(PSAP):c.1193-14G>A
|
rs1454774084
|
|
NM_002778.4(PSAP):c.1193-15T>G
|
|
|
NM_002778.4(PSAP):c.1193-17G>A
|
|
|
NM_002778.4(PSAP):c.1193-17G>C
|
|
|
NM_002778.4(PSAP):c.1193-18C>G
|
|
|
NM_002778.4(PSAP):c.1193-9C>T
|
|
|
NM_002778.4(PSAP):c.1233G>A (p.Val411=)
|
rs751867103
|
|
NM_002778.4(PSAP):c.1236C>T (p.Cys412=)
|
|
|
NM_002778.4(PSAP):c.1245G>T (p.Leu415=)
|
|
|
NM_002778.4(PSAP):c.1260T>C (p.Asp420=)
|
|
|
NM_002778.4(PSAP):c.1267C>T (p.Leu423=)
|
|
|
NM_002778.4(PSAP):c.1278C>T (p.Asn426=)
|
rs777227555
|
|
NM_002778.4(PSAP):c.1284C>T (p.Thr428=)
|
rs751839091
|
|
NM_002778.4(PSAP):c.1296C>T (p.Ile432=)
|
rs144042454
|
|
NM_002778.4(PSAP):c.1297C>T (p.Leu433=)
|
rs761967647
|
|
NM_002778.4(PSAP):c.12C>A (p.Leu4=)
|
|
|
NM_002778.4(PSAP):c.12C>G (p.Leu4=)
|
rs1457254996
|
|
NM_002778.4(PSAP):c.1302T>C (p.Ala434=)
|
|
|
NM_002778.4(PSAP):c.1308T>G (p.Leu436=)
|
|
|
NM_002778.4(PSAP):c.1314A>G (p.Lys438=)
|
|
|
NM_002778.4(PSAP):c.1317C>T (p.Gly439=)
|
|
|
NM_002778.4(PSAP):c.1320C>T (p.Cys440=)
|
|
|
NM_002778.4(PSAP):c.132A>G (p.Ala44=)
|
rs2133052871
|
|
NM_002778.4(PSAP):c.1350+12G>A
|
|
|
NM_002778.4(PSAP):c.1350+16G>C
|
rs2133030478
|
|
NM_002778.4(PSAP):c.1350+17G>C
|
|
|
NM_002778.4(PSAP):c.1350+20G>C
|
|
|
NM_002778.4(PSAP):c.1350+7C>T
|
rs1326298452
|
|
NM_002778.4(PSAP):c.1350+9C>A
|
rs747430592
|
|
NM_002778.4(PSAP):c.1350+9del
|
rs774201963
|
|
NM_002778.4(PSAP):c.1351-10T>A
|
rs747414740
|
|
NM_002778.4(PSAP):c.1351-10T>G
|
rs747414740
|
|
NM_002778.4(PSAP):c.1351-15C>T
|
|
|
NM_002778.4(PSAP):c.1351-16C>T
|
|
|
NM_002778.4(PSAP):c.1351-5T>C
|
rs780691822
|
|
NM_002778.4(PSAP):c.1351-9C>A
|
|
|
NM_002778.4(PSAP):c.1351-9C>G
|
|
|
NM_002778.4(PSAP):c.1351-9_1351-5del
|
|
|
NM_002778.4(PSAP):c.1377G>A (p.Glu459=)
|
rs1208753948
|
|
NM_002778.4(PSAP):c.1389C>A (p.Ile463=)
|
|
|
NM_002778.4(PSAP):c.1398G>C (p.Leu466=)
|
|
|
NM_002778.4(PSAP):c.1419C>T (p.Ser473=)
|
rs1842236573
|
|
NM_002778.4(PSAP):c.1425G>T (p.Val475=)
|
rs1589445950
|
|
NM_002778.4(PSAP):c.1431+18G>T
|
|
|
NM_002778.4(PSAP):c.1431+19T>C
|
|
|
NM_002778.4(PSAP):c.1432-19T>C
|
|
|
NM_002778.4(PSAP):c.1432-20T>C
|
|
|
NM_002778.4(PSAP):c.1432-6A>G
|
|
|
NM_002778.4(PSAP):c.145C>T (p.Leu49=)
|
|
|
NM_002778.4(PSAP):c.1479G>A (p.Glu493=)
|
rs1589445697
|
|
NM_002778.4(PSAP):c.147G>A (p.Leu49=)
|
rs112119208
|
|
NM_002778.4(PSAP):c.1497A>G (p.Pro499=)
|
rs1468772996
|
|
NM_002778.4(PSAP):c.1500C>T (p.Ser500=)
|
rs2133028698
|
|
NM_002778.4(PSAP):c.1509C>T (p.Cys503=)
|
|
|
NM_002778.4(PSAP):c.1518A>T (p.Thr506=)
|
rs2133028668
|
|
NM_002778.4(PSAP):c.1524A>G (p.Thr508=)
|
|
|
NM_002778.4(PSAP):c.1530C>G (p.Ala510=)
|
|
|
NM_002778.4(PSAP):c.1539+17_1539+20del
|
|
|
NM_002778.4(PSAP):c.1539+18C>A
|
|
|
NM_002778.4(PSAP):c.1539+20G>T
|
|
|
NM_002778.4(PSAP):c.153C>G (p.Thr51=)
|
|
|
NM_002778.4(PSAP):c.1540-10C>G
|
rs531023925
|
|
NM_002778.4(PSAP):c.1540-12C>G
|
rs1842193352
|
|
NM_002778.4(PSAP):c.1540-19G>C
|
|
|
NM_002778.4(PSAP):c.1540-19G>T
|
|
|
NM_002778.4(PSAP):c.1540-20A>G
|
|
|
NM_002778.4(PSAP):c.1540-20A>T
|
|
|
NM_002778.4(PSAP):c.1540-4C>T
|
|
|
NM_002778.4(PSAP):c.1540-8C>T
|
|
|
NM_002778.4(PSAP):c.1540-8_1540-7del
|
|
|
NM_002778.4(PSAP):c.1548G>A (p.Glu516=)
|
rs780990521
|
|
NM_002778.4(PSAP):c.1560C>T (p.Arg520=)
|
rs2133025799
|
|
NM_002778.4(PSAP):c.168A>C (p.Pro56=)
|
|
|
NM_002778.4(PSAP):c.174+15C>T
|
|
|
NM_002778.4(PSAP):c.174+16C>T
|
|
|
NM_002778.4(PSAP):c.174+17T>C
|
|
|
NM_002778.4(PSAP):c.174+17T>G
|
|
|
NM_002778.4(PSAP):c.174+20A>G
|
|
|
NM_002778.4(PSAP):c.175-10T>C
|
|
|
NM_002778.4(PSAP):c.175-11C>A
|
|
|
NM_002778.4(PSAP):c.175-16G>A
|
|
|
NM_002778.4(PSAP):c.175-16G>T
|
|
|
NM_002778.4(PSAP):c.175-17C>T
|
|
|
NM_002778.4(PSAP):c.175-6T>C
|
|
|
NM_002778.4(PSAP):c.175-7C>T
|
rs2133049297
|
|
NM_002778.4(PSAP):c.175-8T>C
|
|
|
NM_002778.4(PSAP):c.192C>T (p.Asp64=)
|
rs2133049237
|
|
NM_002778.4(PSAP):c.201A>G (p.Lys67=)
|
rs2133049199
|
|
NM_002778.4(PSAP):c.207T>C (p.Val69=)
|
rs1842527028
|
|
NM_002778.4(PSAP):c.210C>T (p.Val70=)
|
|
|
NM_002778.4(PSAP):c.231G>A (p.Leu77=)
|
|
|
NM_002778.4(PSAP):c.249+10G>T
|
rs1454831195
|
|
NM_002778.4(PSAP):c.249+11G>C
|
rs2133049059
|
|
NM_002778.4(PSAP):c.249+19G>A
|
|
|
NM_002778.4(PSAP):c.249+20G>A
|
rs2133049043
|
|
NM_002778.4(PSAP):c.249+7G>A
|
|
|
NM_002778.4(PSAP):c.249+8G>A
|
rs2133049074
|
|
NM_002778.4(PSAP):c.250-10C>T
|
|
|
NM_002778.4(PSAP):c.250-12_250-11del
|
|
|
NM_002778.4(PSAP):c.250-15G>A
|
|
|
NM_002778.4(PSAP):c.250-16T>C
|
|
|
NM_002778.4(PSAP):c.250-17C>G
|
|
|
NM_002778.4(PSAP):c.250-4G>T
|
|
|
NM_002778.4(PSAP):c.250-7C>T
|
|
|
NM_002778.4(PSAP):c.250-9C>G
|
rs2133048261
|
|
NM_002778.4(PSAP):c.250-9C>T
|
|
|
NM_002778.4(PSAP):c.267C>T (p.Tyr89=)
|
|
|
NM_002778.4(PSAP):c.270G>A (p.Leu90=)
|
|
|
NM_002778.4(PSAP):c.27C>T (p.Ser9=)
|
rs2133075290
|
|
NM_002778.4(PSAP):c.282T>C (p.Cys94=)
|
|
|
NM_002778.4(PSAP):c.291T>A (p.Leu97=)
|
|
|
NM_002778.4(PSAP):c.291T>C (p.Leu97=)
|
|
|
NM_002778.4(PSAP):c.300G>A (p.Pro100=)
|
rs376113488
|
|
NM_002778.4(PSAP):c.300G>T (p.Pro100=)
|
rs376113488
|
|
NM_002778.4(PSAP):c.303C>T (p.Asn101=)
|
rs2133048147
|
|
NM_002778.4(PSAP):c.315A>G (p.Ser105=)
|
rs2133048117
|
|
NM_002778.4(PSAP):c.330G>A (p.Val110=)
|
|
|
NM_002778.4(PSAP):c.333C>T (p.Asp111=)
|
|
|
NM_002778.4(PSAP):c.342C>G (p.Leu114=)
|
|
|
NM_002778.4(PSAP):c.348C>G (p.Val116=)
|
|
|
NM_002778.4(PSAP):c.351C>T (p.Ile117=)
|
rs1411937746
|
|
NM_002778.4(PSAP):c.352C>T (p.Leu118=)
|
|
|
NM_002778.4(PSAP):c.375+13G>A
|
rs2133047916
|
|
NM_002778.4(PSAP):c.375+16T>C
|
|
|
NM_002778.4(PSAP):c.375+18G>A
|
|
|
NM_002778.4(PSAP):c.375+20C>G
|
|
|
NM_002778.4(PSAP):c.375+9T>C
|
|
|
NM_002778.4(PSAP):c.376-10A>G
|
|
|
NM_002778.4(PSAP):c.376-4C>A
|
rs750779234
|
|
NM_002778.4(PSAP):c.376-5A>T
|
rs2133045115
|
|
NM_002778.4(PSAP):c.376-8C>T
|
rs2133045123
|
|
NM_002778.4(PSAP):c.381T>C (p.Arg127=)
|
rs762133120
|
|
NM_002778.4(PSAP):c.390G>A (p.Glu130=)
|
|
|
NM_002778.4(PSAP):c.393G>A (p.Val131=)
|
rs889083956
|
|
NM_002778.4(PSAP):c.399T>C (p.Ser133=)
|
rs2133045048
|
|
NM_002778.4(PSAP):c.40+16C>G
|
|
|
NM_002778.4(PSAP):c.40+19A>T
|
|
|
NM_002778.4(PSAP):c.40+8C>T
|
|
|
NM_002778.4(PSAP):c.40+9T>A
|
rs2133075223
|
|
NM_002778.4(PSAP):c.402T>A (p.Ala134=)
|
rs1842459031
|
|
NM_002778.4(PSAP):c.402T>C (p.Ala134=)
|
rs1842459031
|
|
NM_002778.4(PSAP):c.41-16T>C
|
|
|
NM_002778.4(PSAP):c.41-17G>C
|
|
|
NM_002778.4(PSAP):c.41-17G>T
|
|
|
NM_002778.4(PSAP):c.41-18C>G
|
|
|
NM_002778.4(PSAP):c.41-18C>T
|
|
|
NM_002778.4(PSAP):c.41-18del
|
|
|
NM_002778.4(PSAP):c.41-19A>G
|
|
|
NM_002778.4(PSAP):c.41-19dup
|
|
|
NM_002778.4(PSAP):c.41-20C>T
|
|
|
NM_002778.4(PSAP):c.41-22_41-20del
|
|
|
NM_002778.4(PSAP):c.41-7A>G
|
rs2133053123
|
|
NM_002778.4(PSAP):c.411C>T (p.Leu137=)
|
|
|
NM_002778.4(PSAP):c.423C>A (p.Leu141=)
|
|
|
NM_002778.4(PSAP):c.429G>A (p.Lys143=)
|
rs573587297
|
|
NM_002778.4(PSAP):c.42T>C (p.Ala14=)
|
|
|
NM_002778.4(PSAP):c.435A>G (p.Leu145=)
|
|
|
NM_002778.4(PSAP):c.441G>A (p.Glu147=)
|
|
|
NM_002778.4(PSAP):c.450C>T (p.His150=)
|
|
|
NM_002778.4(PSAP):c.460C>T (p.Leu154=)
|
rs1300106682
|
|
NM_002778.4(PSAP):c.462G>A (p.Leu154=)
|
rs2133044866
|
|
NM_002778.4(PSAP):c.477C>T (p.Ile159=)
|
|
|
NM_002778.4(PSAP):c.48C>A (p.Ala16=)
|
|
|
NM_002778.4(PSAP):c.498G>A (p.Glu166=)
|
rs2133044816
|
|
NM_002778.4(PSAP):c.504G>A (p.Val168=)
|
|
|
NM_002778.4(PSAP):c.510C>G (p.Pro170=)
|
|
|
NM_002778.4(PSAP):c.522C>T (p.Asn174=)
|
rs1326511224
|
|
NM_002778.4(PSAP):c.537C>G (p.Leu179=)
|
rs2133044748
|
|
NM_002778.4(PSAP):c.54G>C (p.Pro18=)
|
rs778317867
|
|
NM_002778.4(PSAP):c.552C>A (p.Gly184=)
|
rs1313057234
|
|
NM_002778.4(PSAP):c.558C>T (p.Arg186=)
|
|
|
NM_002778.4(PSAP):c.561C>T (p.Ser187=)
|
rs2133044694
|
|
NM_002778.4(PSAP):c.567C>G (p.Pro189=)
|
|
|
NM_002778.4(PSAP):c.567C>T (p.Pro189=)
|
|
|
NM_002778.4(PSAP):c.570G>A (p.Gln190=)
|
rs142272618
|
|
NM_002778.4(PSAP):c.573A>G (p.Pro191=)
|
rs2133044655
|
|
NM_002778.4(PSAP):c.576+11G>C
|
|
|
NM_002778.4(PSAP):c.576+13G>T
|
|
|
NM_002778.4(PSAP):c.576+18C>T
|
|
|
NM_002778.4(PSAP):c.576+7C>G
|
rs755154023
|
|
NM_002778.4(PSAP):c.576+9A>G
|
|
|
NM_002778.4(PSAP):c.576+9_576+20del
|
rs2133044608
|
|
NM_002778.4(PSAP):c.577-11C>T
|
|
|
NM_002778.4(PSAP):c.577-12C>T
|
|
|
NM_002778.4(PSAP):c.577-7T>G
|
|
|
NM_002778.4(PSAP):c.57C>A (p.Val19=)
|
rs2133053073
|
|
NM_002778.4(PSAP):c.57C>T (p.Val19=)
|
|
|
NM_002778.4(PSAP):c.585G>A (p.Gly195=)
|
|
|
NM_002778.4(PSAP):c.594C>T (p.Cys198=)
|
rs1383574711
|
|
NM_002778.4(PSAP):c.597G>A (p.Gln199=)
|
|
|
NM_002778.4(PSAP):c.609G>A (p.Gln203=)
|
rs1842430531
|
|
NM_002778.4(PSAP):c.618T>A (p.Thr206=)
|
rs2133043550
|
|
NM_002778.4(PSAP):c.633T>C (p.Ala211=)
|
rs2133043525
|
|
NM_002778.4(PSAP):c.642C>T (p.Thr214=)
|
rs1842429688
|
|
NM_002778.4(PSAP):c.648C>T (p.Ser216=)
|
|
|
NM_002778.4(PSAP):c.651C>G (p.Thr217=)
|
rs371714848
|
|
NM_002778.4(PSAP):c.663C>G (p.Ala221=)
|
rs780126150
|
|
NM_002778.4(PSAP):c.666G>A (p.Leu222=)
|
|
|
NM_002778.4(PSAP):c.697C>T (p.Leu233=)
|
rs146934980
|
|
NM_002778.4(PSAP):c.699G>A (p.Leu233=)
|
|
|
NM_002778.4(PSAP):c.69A>G (p.Lys23=)
|
|
|
NM_002778.4(PSAP):c.702C>T (p.Gly234=)
|
|
|
NM_002778.4(PSAP):c.714C>T (p.Ala238=)
|
rs141199649
|
|
NM_002778.4(PSAP):c.720+15C>T
|
rs778910432
|
|
NM_002778.4(PSAP):c.720+16T>C
|
|
|
NM_002778.4(PSAP):c.720+7C>G
|
rs754131929
|
|
NM_002778.4(PSAP):c.720+7C>T
|
|
|
NM_002778.4(PSAP):c.721-12C>G
|
|
|
NM_002778.4(PSAP):c.721-19T>G
|
|
|
NM_002778.4(PSAP):c.721-20A>G
|
|
|
NM_002778.4(PSAP):c.721-5C>T
|
|
|
NM_002778.4(PSAP):c.721-8C>T
|
|
|
NM_002778.4(PSAP):c.723C>T (p.Cys241=)
|
|
|
NM_002778.4(PSAP):c.729C>T (p.Asn243=)
|
|
|
NM_002778.4(PSAP):c.741G>A (p.Gln247=)
|
rs202069470
|
|
NM_002778.4(PSAP):c.75C>T (p.Cys25=)
|
rs928117739
|
|
NM_002778.4(PSAP):c.777+10A>G
|
|
|
NM_002778.4(PSAP):c.777+16G>T
|
|
|
NM_002778.4(PSAP):c.777+19C>G
|
|
|
NM_002778.4(PSAP):c.777+9C>T
|
rs774490507
|
|
NM_002778.4(PSAP):c.778-10C>G
|
|
|
NM_002778.4(PSAP):c.778-19T>G
|
|
|
NM_002778.4(PSAP):c.778-6C>T
|
rs2133035424
|
|
NM_002778.4(PSAP):c.778-9T>C
|
|
|
NM_002778.4(PSAP):c.786G>A (p.Lys262=)
|
rs2133035392
|
|
NM_002778.4(PSAP):c.789G>A (p.Glu263=)
|
rs762026767
|
|
NM_002778.4(PSAP):c.792C>T (p.Ile264=)
|
|
|
NM_002778.4(PSAP):c.822G>A (p.Val274=)
|
rs149202005
|
|
NM_002778.4(PSAP):c.825A>G (p.Lys275=)
|
|
|
NM_002778.4(PSAP):c.828G>A (p.Glu276=)
|
rs2133035300
|
|
NM_002778.4(PSAP):c.834C>T (p.Pro278=)
|
rs2133035278
|
|
NM_002778.4(PSAP):c.844C>T (p.Leu282=)
|
rs1589448110
|
|
NM_002778.4(PSAP):c.84C>T (p.Gly28=)
|
rs2133053002
|
|
NM_002778.4(PSAP):c.852C>A (p.Pro284=)
|
|
|
NM_002778.4(PSAP):c.867C>G (p.Ser289=)
|
rs2133035197
|
|
NM_002778.4(PSAP):c.87G>A (p.Ser29=)
|
|
|
NM_002778.4(PSAP):c.87G>C (p.Ser29=)
|
rs764061004
|
|
NM_002778.4(PSAP):c.885C>T (p.Ala295=)
|
rs563653978
|
|
NM_002778.4(PSAP):c.886C>T (p.Leu296=)
|
rs2133035173
|
|
NM_002778.4(PSAP):c.888G>A (p.Leu296=)
|
rs750789641
|
|
NM_002778.4(PSAP):c.909+12C>G
|
|
|
NM_002778.4(PSAP):c.909+13A>C
|
|
|
NM_002778.4(PSAP):c.909+17T>A
|
|
|
NM_002778.4(PSAP):c.909+17T>C
|
|
|
NM_002778.4(PSAP):c.909+18G>A
|
|
|
NM_002778.4(PSAP):c.909+7G>A
|
|
|
NM_002778.4(PSAP):c.909+8dup
|
|
|
NM_002778.4(PSAP):c.90A>C (p.Ala30=)
|
rs2133052977
|
|
NM_002778.4(PSAP):c.910-13A>C
|
|
|
NM_002778.4(PSAP):c.910-13A>T
|
|
|
NM_002778.4(PSAP):c.910-16_910-14del
|
|
|
NM_002778.4(PSAP):c.910-18C>T
|
|
|
NM_002778.4(PSAP):c.910-18_910-15del
|
|
|
NM_002778.4(PSAP):c.910-8T>G
|
rs2133032996
|
|
NM_002778.4(PSAP):c.939T>C (p.Val313=)
|
|
|
NM_002778.4(PSAP):c.942C>T (p.Tyr314=)
|
rs1589447082
|
|
NM_002778.4(PSAP):c.951G>A (p.Val317=)
|
rs2133032801
|
|
NM_002778.4(PSAP):c.961C>T (p.Leu321=)
|
|
|
NM_002778.4(PSAP):c.963G>A (p.Leu321=)
|
rs2133032778
|
|
NM_002778.4(PSAP):c.990C>T (p.Asp330=)
|
rs746313696
|
|
NM_002778.4(PSAP):c.99C>T (p.Cys33=)
|
|
|
NM_002778.4(PSAP):c.9C>G (p.Ala3=)
|
rs769671646
|
|