|
NM_000295.5(SERPINA1):c.*968T>C
|
rs1243166
|
0.70142
|
|
NM_000295.5(SERPINA1):c.*1221A>G
|
rs11832
|
0.62751
|
|
NM_000295.5(SERPINA1):c.*854T>C
|
rs1051052
|
0.47426
|
|
NM_000295.5(SERPINA1):c.*481G>A
|
rs1243165
|
0.31650
|
|
NM_001127701.1(SERPINA1):c.710T>C (p.Val237Ala)
|
rs6647
|
0.31278
|
|
NM_000295.5(SERPINA1):c.*316G>T
|
rs1243164
|
0.30828
|
|
NM_001127701.1(SERPINA1):c.1200A>C (p.Glu400Asp)
|
rs1303
|
0.21786
|
|
NM_000295.5(SERPINA1):c.*224G>A
|
rs2073333
|
0.21724
|
|
NM_001127701.1(SERPINA1):c.374G>A (p.Arg125His)
|
rs709932
|
0.11804
|
|
NM_001127701.1(SERPINA1):c.*1703C>T
|
rs877081
|
0.11366
|
|
NM_000295.5(SERPINA1):c.*1067G>A
|
rs11628917
|
0.09897
|
|
NM_000295.5(SERPINA1):c.*1331G>A
|
rs11568814
|
0.07789
|
|
NM_000295.4(SERPINA1):c.-223A>G
|
rs55967149
|
0.03970
|
|
NM_000295.5(SERPINA1):c.840T>C (p.Asp280=)
|
rs1049800
|
0.03703
|
|
NM_000295.5(SERPINA1):c.*1555C>T
|
rs56325294
|
0.03636
|
|
NM_000295.5(SERPINA1):c.424C>T (p.Leu142=)
|
rs20546
|
0.03085
|
|
NM_000295.5(SERPINA1):c.*80C>T
|
rs1243163
|
0.03004
|
|
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val)
|
rs17580
|
0.02950
|
|
NM_000295.5(SERPINA1):c.-10T>C
|
rs11558258
|
0.02837
|
|
NM_000295.5(SERPINA1):c.774G>A (p.Lys258=)
|
rs34112109
|
0.01536
|
|
NM_000295.5(SERPINA1):c.*326A>G
|
rs7144409
|
0.01528
|
|
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys)
|
rs28929474
|
0.01282
|
|
NM_000295.5(SERPINA1):c.1068C>T (p.Ala356=)
|
rs9630
|
0.00897
|
|
NM_000295.4(SERPINA1):c.-208C>T
|
rs55973910
|
0.00679
|
|
NM_000295.5(SERPINA1):c.*1292C>T
|
rs78367974
|
0.00599
|
|
NM_000295.5(SERPINA1):c.522C>T (p.Thr174=)
|
rs72552402
|
0.00522
|
|
NM_000295.5(SERPINA1):c.*1414G>A
|
rs139506803
|
0.00520
|
|
NM_000295.5(SERPINA1):c.*1287G>A
|
rs9944155
|
0.00444
|
|
NM_000295.5(SERPINA1):c.*500G>A
|
rs111349695
|
0.00425
|
|
NM_000295.4(SERPINA1):c.-188G>A
|
rs55961721
|
0.00316
|
|
NM_000295.5(SERPINA1):c.*1141A>G
|
rs139136785
|
0.00239
|
|
NM_000295.5(SERPINA1):c.922G>T (p.Ala308Ser)
|
rs141620200
|
0.00222
|
|
NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys)
|
rs28929470
|
0.00211
|
|
NM_000295.5(SERPINA1):c.*792C>T
|
rs139984116
|
0.00150
|
|
NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys)
|
rs28931570
|
0.00137
|
|
NM_000295.5(SERPINA1):c.*1066G>C
|
rs576539120
|
0.00108
|
|
NM_000295.5(SERPINA1):c.976G>A (p.Val326Ile)
|
rs139964603
|
0.00084
|
|
NM_000295.5(SERPINA1):c.43C>T (p.Leu15=)
|
rs147283849
|
0.00064
|
|
NM_000295.5(SERPINA1):c.51C>T (p.Cys17=)
|
rs143920236
|
0.00056
|
|
NM_000295.5(SERPINA1):c.*1567C>G
|
rs79555504
|
0.00055
|
|
NM_000295.5(SERPINA1):c.879C>A (p.His293Gln)
|
rs141095970
|
0.00054
|
|
NM_000295.5(SERPINA1):c.-7A>G
|
rs559054925
|
0.00041
|
|
NM_000295.5(SERPINA1):c.*696C>T
|
rs777765085
|
0.00039
|
|
NM_000295.5(SERPINA1):c.*853C>T
|
rs188391982
|
0.00035
|
|
NM_000295.5(SERPINA1):c.924C>T (p.Ala308=)
|
rs138611390
|
0.00035
|
|
NM_001127701.1(SERPINA1):c.1159G>A (p.Glu387Lys)
|
rs121912712
|
0.00033
|
|
NM_001127701.1(SERPINA1):c.839A>T (p.Asp280Val)
|
rs121912714
|
0.00033
|
|
NM_000295.5(SERPINA1):c.*627G>A
|
rs904880962
|
0.00032
|
|
NM_000295.5(SERPINA1):c.1177C>T (p.Pro393Ser)
|
rs61761869
|
0.00031
|
|
NM_000295.5(SERPINA1):c.250G>A (p.Ala84Thr)
|
rs111850950
|
0.00031
|
|
NM_000295.5(SERPINA1):c.*678C>T
|
rs151205402
|
0.00029
|
|
NM_000295.5(SERPINA1):c.171C>T (p.Phe57=)
|
rs150784949
|
0.00026
|
|
NM_000295.5(SERPINA1):c.*741C>T
|
rs142149216
|
0.00022
|
|
NM_000295.5(SERPINA1):c.1061C>T (p.Ser354Phe)
|
rs201788603
|
0.00021
|
|
NM_000295.5(SERPINA1):c.*371G>T
|
rs539955367
|
0.00018
|
|
NM_000295.5(SERPINA1):c.546C>T (p.Asn182=)
|
rs113813309
|
0.00016
|
|
NM_000295.5(SERPINA1):c.*946C>T
|
rs184719827
|
0.00014
|
|
NM_000295.4(SERPINA1):c.-176C>T
|
rs756761971
|
0.00013
|
|
NM_000295.5(SERPINA1):c.918-4A>G
|
rs367822021
|
0.00013
|
|
NM_000295.5(SERPINA1):c.1069G>A (p.Val357Met)
|
rs373630097
|
0.00011
|
|
NM_000295.5(SERPINA1):c.1206T>C (p.Asn402=)
|
rs766128806
|
0.00011
|
|
NM_000295.5(SERPINA1):c.244G>A (p.Ala82Thr)
|
rs113817720
|
0.00011
|
|
NM_000295.5(SERPINA1):c.718G>A (p.Val240Met)
|
rs72552401
|
0.00011
|
|
NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu)
|
rs199422209
|
0.00011
|
|
NM_000295.5(SERPINA1):c.*1195G>A
|
rs886050918
|
0.00010
|
|
NM_000295.5(SERPINA1):c.*1494A>T
|
rs781709902
|
0.00010
|
|
NM_000295.5(SERPINA1):c.*1C>T
|
rs72547410
|
0.00010
|
|
NM_000295.5(SERPINA1):c.*263C>T
|
rs753776140
|
0.00010
|
|
NM_000295.5(SERPINA1):c.*694A>T
|
rs886050920
|
0.00010
|
|
NM_000295.4(SERPINA1):c.-190G>A
|
rs180723265
|
0.00009
|
|
NM_000295.5(SERPINA1):c.899T>G (p.Leu300Arg)
|
rs550592374
|
0.00009
|
|
NM_000295.5(SERPINA1):c.327G>A (p.Thr109=)
|
rs764493280
|
0.00008
|
|
NM_000295.5(SERPINA1):c.1075A>G (p.Lys359Glu)
|
rs200945035
|
0.00007
|
|
NM_000295.5(SERPINA1):c.1225A>G (p.Met409Val)
|
rs149800596
|
0.00007
|
|
NM_000295.5(SERPINA1):c.918-5G>A
|
rs375378877
|
0.00007
|
|
NM_000295.5(SERPINA1):c.967C>T (p.Leu323=)
|
rs150455534
|
0.00007
|
|
NM_000295.5(SERPINA1):c.*1235C>T
|
rs886050917
|
0.00006
|
|
NM_000295.5(SERPINA1):c.*1576G>A
|
rs758466620
|
0.00006
|
|
NM_000295.5(SERPINA1):c.*1628G>A
|
rs746099389
|
0.00006
|
|
NM_000295.5(SERPINA1):c.*400C>T
|
rs886050921
|
0.00006
|
|
NM_000295.5(SERPINA1):c.1134G>A (p.Glu378=)
|
rs148362959
|
0.00006
|
|
NM_000295.5(SERPINA1):c.201C>G (p.His67Gln)
|
rs140744031
|
0.00006
|
|
NM_000295.5(SERPINA1):c.206C>T (p.Ser69Phe)
|
rs199687431
|
0.00006
|
|
NM_000295.5(SERPINA1):c.6G>A (p.Pro2=)
|
rs200936638
|
0.00006
|
|
NM_001127701.1(SERPINA1):c.326C>T (p.Thr109Met)
|
rs199422213
|
0.00006
|
|
NM_000295.5(SERPINA1):c.426G>A (p.Leu142=)
|
rs758835662
|
0.00005
|
|
NM_000295.5(SERPINA1):c.436G>A (p.Glu146Lys)
|
rs537285845
|
0.00005
|
|
NM_000295.5(SERPINA1):c.513C>T (p.Phe171=)
|
rs190838132
|
0.00005
|
|
NM_000295.5(SERPINA1):c.646+2T>C
|
rs112661131
|
0.00005
|
|
NM_000295.5(SERPINA1):c.113C>T (p.Ser38Phe)
|
rs745463238
|
0.00004
|
|
NM_000295.5(SERPINA1):c.1155C>T (p.Pro385=)
|
rs774551181
|
0.00004
|
|
NM_000295.5(SERPINA1):c.211A>C (p.Ser71Arg)
|
rs11575873
|
0.00004
|
|
NM_000295.5(SERPINA1):c.231C>T (p.Ser77=)
|
rs746839619
|
0.00004
|
|
NM_000295.5(SERPINA1):c.336G>A (p.Pro112=)
|
rs753313462
|
0.00004
|
|
NM_000295.5(SERPINA1):c.648C>A (p.Gly216=)
|
rs754816836
|
0.00004
|
|
NM_000295.5(SERPINA1):c.681C>T (p.Thr227=)
|
rs766320203
|
0.00004
|
|
NM_000295.5(SERPINA1):c.873C>T (p.Leu291=)
|
rs779573811
|
0.00004
|
|
NM_000295.5(SERPINA1):c.918-6C>T
|
rs534650421
|
0.00004
|
|
NM_001127701.1(SERPINA1):c.17C>T (p.Ser6Leu)
|
rs140814100
|
0.00004
|
|
NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro)
|
rs28931569
|
0.00004
|
|
NM_000295.4(SERPINA1):c.-215G>C
|
rs979052933
|
0.00003
|
|
NM_000295.5(SERPINA1):c.*725G>A
|
rs886050919
|
0.00003
|
|
NM_000295.5(SERPINA1):c.1029C>T (p.Ser343=)
|
rs760494093
|
0.00003
|
|
NM_000295.5(SERPINA1):c.1094A>T (p.Asp365Val)
|
rs864622046
|
0.00003
|
|
NM_000295.5(SERPINA1):c.1158C>T (p.Pro386=)
|
rs143329723
|
0.00003
|
|
NM_000295.5(SERPINA1):c.169T>C (p.Phe57Leu)
|
rs1457464431
|
0.00003
|
|
NM_000295.5(SERPINA1):c.291C>T (p.His97=)
|
rs781502220
|
0.00003
|
|
NM_000295.5(SERPINA1):c.399G>A (p.Gln133=)
|
rs1237415484
|
0.00003
|
|
NM_000295.5(SERPINA1):c.426G>T (p.Leu142=)
|
rs758835662
|
0.00003
|
|
NM_000295.5(SERPINA1):c.470A>G (p.Asp157Gly)
|
rs749118243
|
0.00003
|
|
NM_000295.5(SERPINA1):c.538C>G (p.Gln180Glu)
|
rs864622051
|
0.00003
|
|
NM_000295.5(SERPINA1):c.646G>T (p.Gly216Cys)
|
rs756773408
|
0.00003
|
|
NM_000295.5(SERPINA1):c.654G>A (p.Trp218Ter)
|
rs1445192595
|
0.00003
|
|
NM_000295.5(SERPINA1):c.740G>A (p.Arg247His)
|
rs544632177
|
0.00003
|
|
NM_000295.5(SERPINA1):c.819C>T (p.Thr273=)
|
rs2230075
|
0.00003
|
|
NM_000295.5(SERPINA1):c.894G>T (p.Lys298Asn)
|
rs957169128
|
0.00003
|
|
NM_000295.5(SERPINA1):c.*1061C>T
|
rs1021949490
|
0.00002
|
|
NM_000295.5(SERPINA1):c.*18A>G
|
rs371674306
|
0.00002
|
|
NM_000295.5(SERPINA1):c.18G>A (p.Ser6=)
|
rs1343069141
|
0.00002
|
|
NM_000295.5(SERPINA1):c.701T>A (p.Val234Glu)
|
rs746197812
|
0.00002
|
|
NM_001127701.1(SERPINA1):c.682G>A (p.Glu228Lys)
|
rs199422208
|
0.00002
|
|
NM_000295.4(SERPINA1):c.-143C>T
|
rs886050924
|
0.00001
|
|
NM_000295.4(SERPINA1):c.-191C>T
|
rs886050925
|
0.00001
|
|
NM_000295.4(SERPINA1):c.1078G>A (p.Ala360Thr)
|
rs1802959
|
0.00001
|
|
NM_000295.4(SERPINA1):c.721A>T (p.Lys241Ter)
|
rs199422211
|
0.00001
|
|
NM_000295.5(SERPINA1):c.*469G>T
|
rs1896481388
|
0.00001
|
|
NM_000295.5(SERPINA1):c.1000A>G (p.Lys334Glu)
|
rs1444508096
|
0.00001
|
|
NM_000295.5(SERPINA1):c.1027T>G (p.Ser343Ala)
|
rs1400497428
|
0.00001
|
|
NM_000295.5(SERPINA1):c.102G>A (p.Lys34=)
|
rs864622049
|
0.00001
|
|
NM_000295.5(SERPINA1):c.1065+10C>T
|
rs56388024
|
0.00001
|
|
NM_000295.5(SERPINA1):c.1092C>T (p.Ile364=)
|
rs772289957
|
0.00001
|
|
NM_000295.5(SERPINA1):c.1104G>A (p.Gly368=)
|
rs1378794678
|
0.00001
|
|
NM_000295.5(SERPINA1):c.1152C>T (p.Ile384=)
|
rs764340766
|
0.00001
|
|
NM_000295.5(SERPINA1):c.115C>A (p.His39Asn)
|
rs138070585
|
0.00001
|
|
NM_000295.5(SERPINA1):c.1179C>T (p.Pro393=)
|
rs746728426
|
0.00001
|
|
NM_000295.5(SERPINA1):c.1226T>C (p.Met409Thr)
|
rs1488213352
|
0.00001
|
|
NM_000295.5(SERPINA1):c.138C>G (p.Thr46=)
|
rs1052327215
|
0.00001
|
|
NM_000295.5(SERPINA1):c.156C>A (p.Pro52=)
|
rs1240367008
|
0.00001
|
|
NM_000295.5(SERPINA1):c.207C>T (p.Ser69=)
|
rs974200634
|
0.00001
|
|
NM_000295.5(SERPINA1):c.236T>A (p.Val79Glu)
|
rs864622047
|
0.00001
|
|
NM_000295.5(SERPINA1):c.324C>T (p.Leu108=)
|
rs1555369128
|
0.00001
|
|
NM_000295.5(SERPINA1):c.396C>T (p.Ser132=)
|
rs1402627363
|
0.00001
|
|
NM_000295.5(SERPINA1):c.414C>T (p.Thr138=)
|
rs541545839
|
0.00001
|
|
NM_000295.5(SERPINA1):c.450A>G (p.Leu150=)
|
rs146596574
|
0.00001
|
|
NM_000295.5(SERPINA1):c.453G>A (p.Val151=)
|
rs1419638250
|
0.00001
|
|
NM_000295.5(SERPINA1):c.477A>G (p.Lys159=)
|
rs771199057
|
0.00001
|
|
NM_000295.5(SERPINA1):c.54G>T (p.Leu18=)
|
rs745679666
|
0.00001
|
|
NM_000295.5(SERPINA1):c.552del (p.Asp183_Tyr184insTer)
|
rs267606950
|
0.00001
|
|
NM_000295.5(SERPINA1):c.579T>A (p.Ile193=)
|
rs1162891460
|
0.00001
|
|
NM_000295.5(SERPINA1):c.587T>C (p.Leu196Ser)
|
rs368433503
|
0.00001
|
|
NM_000295.5(SERPINA1):c.627G>A (p.Val209=)
|
rs756577084
|
0.00001
|
|
NM_000295.5(SERPINA1):c.646+1G>T
|
rs751235320
|
0.00001
|
|
NM_000295.5(SERPINA1):c.666T>C (p.Phe222=)
|
rs990415545
|
0.00001
|
|
NM_000295.5(SERPINA1):c.66C>T (p.Ser22=)
|
rs764012079
|
0.00001
|
|
NM_000295.5(SERPINA1):c.707A>G (p.Gln236Arg)
|
rs746531546
|
0.00001
|
|
NM_000295.5(SERPINA1):c.717C>T (p.Thr239=)
|
rs200634040
|
0.00001
|
|
NM_000295.5(SERPINA1):c.723G>A (p.Lys241=)
|
rs1182248085
|
0.00001
|
|
NM_000295.5(SERPINA1):c.727C>T (p.Pro243Ser)
|
rs1316729320
|
0.00001
|
|
NM_000295.5(SERPINA1):c.745G>C (p.Gly249Arg)
|
rs764220898
|
0.00001
|
|
NM_000295.5(SERPINA1):c.795G>A (p.Leu265=)
|
rs749044003
|
0.00001
|
|
NM_000295.5(SERPINA1):c.875C>T (p.Thr292Ile)
|
rs745624643
|
0.00001
|
|
NM_000295.5(SERPINA1):c.878A>G (p.His293Arg)
|
rs1281598461
|
0.00001
|
|
NM_000295.5(SERPINA1):c.880G>A (p.Asp294Asn)
|
rs772436715
|
0.00001
|
|
NM_000295.5(SERPINA1):c.918-9G>T
|
rs752147685
|
0.00001
|
|
NM_000295.5(SERPINA1):c.926G>A (p.Ser309Asn)
|
rs773222881
|
0.00001
|
|
NM_000295.5(SERPINA1):c.96C>T (p.Ala32=)
|
rs1595615037
|
0.00001
|
|
NM_000295.5(SERPINA1):c.975C>T (p.Ser325=)
|
rs764238790
|
0.00001
|
|
NM_000295.5(SERPINA1):c.978C>T (p.Val326=)
|
rs752267053
|
0.00001
|
|
NM_000295.5(SERPINA1):c.99G>A (p.Gln33=)
|
rs1897072904
|
0.00001
|
|
NM_001127701.1(SERPINA1):c.415G>A (p.Gly139Ser)
|
rs11558261
|
0.00001
|
|
NC_000014.8:g.(?_94843455)_(94847488_?)del
|
|
|
|
NC_000014.8:g.(?_94843455)_(94854896_?)del
|
|
|
|
NC_000014.8:g.(?_94847198)_(94854896_?)del
|
|
|
|
NC_000014.9:g.[94380925T>A;94382636T>C]
|
|
|
|
NC_000014.9:g.[94380925T>A;94383048G>T]
|
|
|
|
NM_000295.4(SERPINA1):c.-102delC
|
rs202122479
|
|
|
NM_000295.4(SERPINA1):c.-165A>G
|
rs1897465965
|
|
|
NM_000295.4(SERPINA1):c.1093G>A (p.Asp365Asn)
|
rs143370956
|
|
|
NM_000295.4(SERPINA1):c.[1096G>A;35T>C]
|
|
|
|
NM_000295.4(SERPINA1):c.[1158dupC;863A>T]
|
|
|
|
NM_000295.5(SERPINA1):c.*1173T>C
|
rs554160611
|
|
|
NM_000295.5(SERPINA1):c.*1294T>C
|
rs886050916
|
|
|
NM_000295.5(SERPINA1):c.*172T>C
|
rs886050922
|
|
|
NM_000295.5(SERPINA1):c.*182C>A
|
rs138518740
|
|
|
NM_000295.5(SERPINA1):c.*241G>C
|
rs111978668
|
|
|
NM_000295.5(SERPINA1):c.*315T>G
|
rs1896497491
|
|
|
NM_000295.5(SERPINA1):c.*410A>C
|
rs1214498546
|
|
|
NM_000295.5(SERPINA1):c.*413C>A
|
rs566212080
|
|
|
NM_000295.5(SERPINA1):c.*419C>A
|
rs529148469
|
|
|
NM_000295.5(SERPINA1):c.*442A>T
|
rs1595596588
|
|
|
NM_000295.5(SERPINA1):c.-5+1G>A
|
|
|
|
NM_000295.5(SERPINA1):c.1014T>A (p.Asn338Lys)
|
rs371761828
|
|
|
NM_000295.5(SERPINA1):c.1018del (p.Ala340fs)
|
rs1057516929
|
|
|
NM_000295.5(SERPINA1):c.1023C>T (p.Asp341=)
|
|
|
|
NM_000295.5(SERPINA1):c.102G>T (p.Lys34Asn)
|
rs864622049
|
|
|
NM_000295.5(SERPINA1):c.1030G>A (p.Gly344Arg)
|
|
|
|
NM_000295.5(SERPINA1):c.1047A>G (p.Ala349=)
|
rs1303463945
|
|
|
NM_000295.5(SERPINA1):c.1050C>G (p.Pro350=)
|
|
|
|
NM_000295.5(SERPINA1):c.1052del (p.Leu351fs)
|
rs72555374
|
|
|
NM_000295.5(SERPINA1):c.1064A>G (p.Lys355Arg)
|
rs864622055
|
|
|
NM_000295.5(SERPINA1):c.1064_1066-3del (p.Lys355_Ala356=)
|
rs1555367896
|
|
|
NM_000295.5(SERPINA1):c.1065+16C>T
|
|
|
|
NM_000295.5(SERPINA1):c.1065+17G>A
|
|
|
|
NM_000295.5(SERPINA1):c.1065+19C>T
|
|
|
|
NM_000295.5(SERPINA1):c.1065+7T>C
|
rs2139672307
|
|
|
NM_000295.5(SERPINA1):c.1066-14T>C
|
|
|
|
NM_000295.5(SERPINA1):c.1066-14_1066-12del
|
|
|
|
NM_000295.5(SERPINA1):c.1066-15T>C
|
|
|
|
NM_000295.5(SERPINA1):c.1066-17G>C
|
|
|
|
NM_000295.5(SERPINA1):c.1066-1G>T
|
rs1555367897
|
|
|
NM_000295.5(SERPINA1):c.1066-20T>A
|
|
|
|
NM_000295.5(SERPINA1):c.1066-5T>G
|
|
|
|
NM_000295.5(SERPINA1):c.1066-6C>T
|
|
|
|
NM_000295.5(SERPINA1):c.1072_1073del (p.Val357_His358insTer)
|
rs1555367892
|
|
|
NM_000295.5(SERPINA1):c.1073A>G (p.His358Arg)
|
rs1555367891
|
|
|
NM_000295.5(SERPINA1):c.1077G>A (p.Lys359=)
|
|
|
|
NM_000295.5(SERPINA1):c.1083G>T (p.Val361=)
|
rs13868
|
|
|
NM_000295.5(SERPINA1):c.108T>C (p.Asp36=)
|
|
|
|
NM_000295.5(SERPINA1):c.1092C>A (p.Ile364=)
|
|
|
|
NM_000295.5(SERPINA1):c.1093G>T (p.Asp365Tyr)
|
rs143370956
|
|
|
NM_000295.5(SERPINA1):c.1095C>T (p.Asp365=)
|
rs201774333
|
|
|
NM_000295.5(SERPINA1):c.1096G>C (p.Glu366Gln)
|
rs28929474
|
|
|
NM_000295.5(SERPINA1):c.1097A>G (p.Glu366Gly)
|
|
|
|
NM_000295.5(SERPINA1):c.1108_1115delinsAAAAACA (p.Glu370fs)
|
rs864622043
|
|
|
NM_000295.5(SERPINA1):c.1113_1114del (p.Ala372fs)
|
rs2139665561
|
|
|
NM_000295.5(SERPINA1):c.1119G>A (p.Gly373=)
|
rs376061125
|
|
|
NM_000295.5(SERPINA1):c.111A>G (p.Thr37=)
|
|
|
|
NM_000295.5(SERPINA1):c.1121C>A (p.Ala374Asp)
|
rs1566748077
|
|
|
NM_000295.5(SERPINA1):c.1122C>T (p.Ala374=)
|
rs2139665392
|
|
|
NM_000295.5(SERPINA1):c.1130dup (p.Leu377fs)
|
rs763023697
|
|
|
NM_000295.5(SERPINA1):c.1132G>A (p.Glu378Lys)
|
rs1566747984
|
|
|
NM_000295.5(SERPINA1):c.1136C>A (p.Ala379Asp)
|
rs1291036417
|
|
|
NM_000295.5(SERPINA1):c.1158del (p.Glu387fs)
|
rs764325655
|
|
|
NM_000295.5(SERPINA1):c.1158dup (p.Glu387fs)
|
rs764325655
|
|
|
NM_000295.5(SERPINA1):c.1176A>G (p.Lys392=)
|
rs1216502935
|
|
|
NM_000295.5(SERPINA1):c.1177C>A (p.Pro393Thr)
|
rs61761869
|
|
|
NM_000295.5(SERPINA1):c.1178C>G (p.Pro393Arg)
|
rs199422209
|
|
|
NM_000295.5(SERPINA1):c.1179del (p.Phe394fs)
|
|
|
|
NM_000295.5(SERPINA1):c.1208C>T (p.Thr403Ile)
|
rs778747339
|
|
|
NM_000295.5(SERPINA1):c.1221C>T (p.Leu407=)
|
rs767700105
|
|
|
NM_000295.5(SERPINA1):c.123T>C (p.Asp41=)
|
|
|
|
NM_000295.5(SERPINA1):c.1248C>A (p.Thr416=)
|
rs1896524249
|
|
|
NM_000295.5(SERPINA1):c.135A>C (p.Pro45=)
|
rs1314550300
|
|
|
NM_000295.5(SERPINA1):c.144C>T (p.Asn48=)
|
rs1595614724
|
|
|
NM_000295.5(SERPINA1):c.153C>T (p.Thr51=)
|
rs1595614683
|
|
|
NM_000295.5(SERPINA1):c.155C>T (p.Pro52Leu)
|
|
|
|
NM_000295.5(SERPINA1):c.162G>C (p.Leu54=)
|
|
|
|
NM_000295.5(SERPINA1):c.180C>G (p.Ser60Arg)
|
rs864622045
|
|
|
NM_000295.5(SERPINA1):c.186C>A (p.Tyr62Ter)
|
rs762321137
|
|
|
NM_000295.5(SERPINA1):c.188G>T (p.Arg63Leu)
|
rs764726147
|
|
|
NM_000295.5(SERPINA1):c.189C>T (p.Arg63=)
|
|
|
|
NM_000295.5(SERPINA1):c.199C>A (p.His67Asn)
|
rs864622050
|
|
|
NM_000295.5(SERPINA1):c.1A>G (p.Met1Val)
|
rs1057516555
|
|
|
NM_000295.5(SERPINA1):c.1del (p.Met1fs)
|
rs1555369299
|
|
|
NM_000295.5(SERPINA1):c.210C>T (p.Asn70=)
|
|
|
|
NM_000295.5(SERPINA1):c.216del (p.Asn73fs)
|
|
|
|
NM_000295.5(SERPINA1):c.21G>A (p.Trp7Ter)
|
rs370038282
|
|
|
NM_000295.5(SERPINA1):c.221TCT[2] (p.Phe76del)
|
rs775982338
|
|
|
NM_000295.5(SERPINA1):c.227T>C (p.Phe76Ser)
|
rs1555369172
|
|
|
NM_000295.5(SERPINA1):c.237G>A (p.Val79=)
|
|
|
|
NM_000295.5(SERPINA1):c.244G>C (p.Ala82Pro)
|
rs113817720
|
|
|
NM_000295.5(SERPINA1):c.246T>C (p.Ala82=)
|
|
|
|
NM_000295.5(SERPINA1):c.24C>T (p.Gly8=)
|
|
|
|
NM_000295.5(SERPINA1):c.250_257dup (p.Met87fs)
|
|
|
|
NM_000295.5(SERPINA1):c.279G>A (p.Lys93=)
|
|
|
|
NM_000295.5(SERPINA1):c.27C>A (p.Ile9=)
|
|
|
|
NM_000295.5(SERPINA1):c.288_291del (p.His97fs)
|
rs1057516212
|
|
|
NM_000295.5(SERPINA1):c.294T>C (p.Asp98=)
|
|
|
|
NM_000295.5(SERPINA1):c.297A>C (p.Glu99Asp)
|
rs1566757757
|
|
|
NM_000295.5(SERPINA1):c.299T>A (p.Ile100Asn)
|
rs1555369135
|
|
|
NM_000295.5(SERPINA1):c.30C>T (p.Leu10=)
|
|
|
|
NM_000295.5(SERPINA1):c.318C>T (p.Phe106=)
|
rs1281659812
|
|
|
NM_000295.5(SERPINA1):c.321C>T (p.Asn107=)
|
rs1897043908
|
|
|
NM_000295.5(SERPINA1):c.333T>G (p.Ile111Met)
|
rs886050923
|
|
|
NM_000295.5(SERPINA1):c.343C>T (p.Gln115Ter)
|
|
|
|
NM_000295.5(SERPINA1):c.351_352del (p.His117fs)
|
|
|
|
NM_000295.5(SERPINA1):c.356G>T (p.Gly119Val)
|
rs749295615
|
|
|
NM_000295.5(SERPINA1):c.369C>A (p.Leu123=)
|
rs2139693491
|
|
|
NM_000295.5(SERPINA1):c.372C>A (p.Leu124=)
|
|
|
|
NM_000295.5(SERPINA1):c.372C>T (p.Leu124=)
|
rs2139693471
|
|
|
NM_000295.5(SERPINA1):c.393C>T (p.Asp131=)
|
rs2139693281
|
|
|
NM_000295.5(SERPINA1):c.403C>T (p.Gln135Ter)
|
|
|
|
NM_000295.5(SERPINA1):c.411C>G (p.Thr137=)
|
|
|
|
NM_000295.5(SERPINA1):c.423C>A (p.Gly141=)
|
|
|
|
NM_000295.5(SERPINA1):c.435C>T (p.Ser145=)
|
|
|
|
NM_000295.5(SERPINA1):c.441C>G (p.Gly147=)
|
|
|
|
NM_000295.5(SERPINA1):c.465G>A (p.Leu155=)
|
|
|
|
NM_000295.5(SERPINA1):c.469G>A (p.Asp157Asn)
|
rs1595612771
|
|
|
NM_000295.5(SERPINA1):c.475A>T (p.Lys159Ter)
|
|
|
|
NM_000295.5(SERPINA1):c.480del (p.Lys160fs)
|
|
|
|
NM_000295.5(SERPINA1):c.481T>C (p.Leu161=)
|
|
|
|
NM_000295.5(SERPINA1):c.483G>A (p.Leu161=)
|
|
|
|
NM_000295.5(SERPINA1):c.514G>A (p.Gly172Arg)
|
rs112030253
|
|
|
NM_000295.5(SERPINA1):c.514G>T (p.Gly172Trp)
|
rs112030253
|
|
|
NM_000295.5(SERPINA1):c.519C>T (p.Asp173=)
|
|
|
|
NM_000295.5(SERPINA1):c.538C>T (p.Gln180Ter)
|
rs864622051
|
|
|
NM_000295.5(SERPINA1):c.54G>A (p.Leu18=)
|
rs745679666
|
|
|
NM_000295.5(SERPINA1):c.54G>C (p.Leu18=)
|
|
|
|
NM_000295.5(SERPINA1):c.552C>G (p.Tyr184Ter)
|
rs199422210
|
|
|
NM_000295.5(SERPINA1):c.552C>T (p.Tyr184=)
|
rs199422210
|
|
|
NM_000295.5(SERPINA1):c.555G>A (p.Val185=)
|
|
|
|
NM_000295.5(SERPINA1):c.557del (p.Glu186fs)
|
|
|
|
NM_000295.5(SERPINA1):c.558G>A (p.Glu186=)
|
|
|
|
NM_000295.5(SERPINA1):c.561G>A (p.Lys187=)
|
|
|
|
NM_000295.5(SERPINA1):c.564T>A (p.Gly188=)
|
rs769830846
|
|
|
NM_000295.5(SERPINA1):c.568C>T (p.Gln190Ter)
|
|
|
|
NM_000295.5(SERPINA1):c.573G>A (p.Gly191=)
|
|
|
|
NM_000295.5(SERPINA1):c.585_586delinsA (p.Asp195fs)
|
rs1566756379
|
|
|
NM_000295.5(SERPINA1):c.600T>C (p.Leu200=)
|
|
|
|
NM_000295.5(SERPINA1):c.607_608del (p.Asp203fs)
|
rs2139691603
|
|
|
NM_000295.5(SERPINA1):c.611_612del (p.Thr204fs)
|
rs921982028
|
|
|
NM_000295.5(SERPINA1):c.618T>C (p.Phe206=)
|
|
|
|
NM_000295.5(SERPINA1):c.626T>C (p.Val209Ala)
|
rs1555368958
|
|
|
NM_000295.5(SERPINA1):c.627G>C (p.Val209=)
|
|
|
|
NM_000295.5(SERPINA1):c.631T>C (p.Tyr211His)
|
rs864622052
|
|
|
NM_000295.5(SERPINA1):c.646+15C>A
|
|
|
|
NM_000295.5(SERPINA1):c.646+15C>T
|
|
|
|
NM_000295.5(SERPINA1):c.646+16C>T
|
|
|
|
NM_000295.5(SERPINA1):c.646+18G>C
|
|
|
|
NM_000295.5(SERPINA1):c.647-10C>A
|
rs752544117
|
|
|
NM_000295.5(SERPINA1):c.647-13C>T
|
|
|
|
NM_000295.5(SERPINA1):c.647-2A>C
|
|
|
|
NM_000295.5(SERPINA1):c.647-4C>T
|
|
|
|
NM_000295.5(SERPINA1):c.647-8C>T
|
rs950358984
|
|
|
NM_000295.5(SERPINA1):c.647-9del
|
rs1566754489
|
|
|
NM_000295.5(SERPINA1):c.647del
|
rs1555368758
|
|
|
NM_000295.5(SERPINA1):c.654G>T (p.Trp218Cys)
|
rs1445192595
|
|
|
NM_000295.5(SERPINA1):c.663C>T (p.Pro221=)
|
rs1896884042
|
|
|
NM_000295.5(SERPINA1):c.664T>C (p.Phe222Leu)
|
rs1555368744
|
|
|
NM_000295.5(SERPINA1):c.673A>T (p.Lys225Ter)
|
|
|
|
NM_000295.5(SERPINA1):c.681C>G (p.Thr227=)
|
rs766320203
|
|
|
NM_000295.5(SERPINA1):c.699C>T (p.His233=)
|
|
|
|
NM_000295.5(SERPINA1):c.69G>A (p.Leu23=)
|
|
|
|
NM_000295.5(SERPINA1):c.708G>A (p.Gln236=)
|
|
|
|
NM_000295.5(SERPINA1):c.714C>T (p.Thr238=)
|
rs2139683146
|
|
|
NM_000295.5(SERPINA1):c.714del (p.Thr239fs)
|
rs1057516448
|
|
|
NM_000295.5(SERPINA1):c.735G>A (p.Met245Ile)
|
rs864622053
|
|
|
NM_000295.5(SERPINA1):c.737A>C (p.Lys246Thr)
|
rs864622054
|
|
|
NM_000295.5(SERPINA1):c.738G>A (p.Lys246=)
|
rs2139682908
|
|
|
NM_000295.5(SERPINA1):c.742T>C (p.Leu248=)
|
rs2139682850
|
|
|
NM_000295.5(SERPINA1):c.747C>G (p.Gly249=)
|
|
|
|
NM_000295.5(SERPINA1):c.761A>G (p.Gln254Arg)
|
rs1566753789
|
|
|
NM_000295.5(SERPINA1):c.768T>C (p.Cys256=)
|
|
|
|
NM_000295.5(SERPINA1):c.771G>A (p.Lys257=)
|
|
|
|
NM_000295.5(SERPINA1):c.779C>T (p.Ser260Phe)
|
rs1595607823
|
|
|
NM_000295.5(SERPINA1):c.787del (p.Val263fs)
|
rs1200349975
|
|
|
NM_000295.5(SERPINA1):c.805C>T (p.Leu269=)
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rs2139682364
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NM_000295.5(SERPINA1):c.819C>A (p.Thr273=)
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NM_000295.5(SERPINA1):c.825C>T (p.Ile275=)
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NM_000295.5(SERPINA1):c.828C>T (p.Phe276=)
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rs1566753494
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NM_000295.5(SERPINA1):c.82del (p.Gln28fs)
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NM_000295.5(SERPINA1):c.833T>C (p.Leu278Pro)
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rs1566753480
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NM_000295.5(SERPINA1):c.841G>T (p.Glu281Ter)
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rs760917668
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NM_000295.5(SERPINA1):c.847A>T (p.Lys283Ter)
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NM_000295.5(SERPINA1):c.848A>T (p.Lys283Ile)
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rs864622044
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NM_000295.5(SERPINA1):c.853C>T (p.Gln285Ter)
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NM_000295.5(SERPINA1):c.856C>T (p.His286Tyr)
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NM_000295.5(SERPINA1):c.860T>C (p.Leu287Pro)
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NM_000295.5(SERPINA1):c.861G>A (p.Leu287=)
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rs1251203297
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NM_000295.5(SERPINA1):c.866dup (p.Asn289fs)
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rs1555368557
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NM_000295.5(SERPINA1):c.879C>G (p.His293Gln)
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rs141095970
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NM_000295.5(SERPINA1):c.879C>T (p.His293=)
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rs141095970
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NM_000295.5(SERPINA1):c.891C>G (p.Thr297=)
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NM_000295.5(SERPINA1):c.897C>T (p.Phe299=)
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NM_000295.5(SERPINA1):c.899T>C (p.Leu300Pro)
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rs550592374
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NM_000295.5(SERPINA1):c.89A>T (p.Asp30Val)
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rs864622048
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NM_000295.5(SERPINA1):c.907G>C (p.Glu303Gln)
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rs1802963
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NM_000295.5(SERPINA1):c.912C>T (p.Asp304=)
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NM_000295.5(SERPINA1):c.917+13C>A
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NM_000295.5(SERPINA1):c.917+20G>C
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NM_000295.5(SERPINA1):c.917+9C>T
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NM_000295.5(SERPINA1):c.934T>C (p.Leu312=)
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rs2139673576
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NM_000295.5(SERPINA1):c.943C>T (p.Leu315=)
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NM_000295.5(SERPINA1):c.958A>C (p.Thr320Pro)
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rs746155701
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NM_000295.5(SERPINA1):c.963T>C (p.Tyr321=)
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NM_000295.5(SERPINA1):c.987A>G (p.Gln329=)
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NM_000295.5(SERPINA1):c.996C>A (p.Ile332=)
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NM_000295.5(SERPINA1):c.999T>C (p.Thr333=)
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rs181491831
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NM_001127701.1(SERPINA1):c.1145T>G (p.Met382Arg)
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rs121912713
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NM_001127701.1(SERPINA1):c.230C>T (p.Ser77Phe)
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rs55819880
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NM_001127701.1(SERPINA1):c.272G>A (p.Gly91Glu)
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rs28931568
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NM_001127701.1(SERPINA1):c.347T>A (p.Ile116Asn)
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rs28931572
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NM_001127701.1(SERPINA1):c.77A>C (p.Asp26Ala)
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rs199422212
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NM_001127701.1(SERPINA1):c.[187C>T;739C>T]
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PI NULL(HONG KONG 1)
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rs1057519610
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PI NULL(PROCIDA)
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QOgranite falls allele
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