|
NM_001127701.1(SERPINA1):c.710T>C (p.Val237Ala)
|
rs6647
|
0.31278
|
|
NM_001127701.1(SERPINA1):c.1200A>C (p.Glu400Asp)
|
rs1303
|
0.21786
|
|
NM_001127701.1(SERPINA1):c.374G>A (p.Arg125His)
|
rs709932
|
0.11804
|
|
NM_000295.5(SERPINA1):c.*1331G>A
|
rs11568814
|
0.07789
|
|
NM_000295.5(SERPINA1):c.840T>C (p.Asp280=)
|
rs1049800
|
0.03703
|
|
NM_000295.5(SERPINA1):c.424C>T (p.Leu142=)
|
rs20546
|
0.03085
|
|
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val)
|
rs17580
|
0.02950
|
|
NM_000295.5(SERPINA1):c.774G>A (p.Lys258=)
|
rs34112109
|
0.01536
|
|
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_000295.5(SERPINA1):c.522C>T (p.Thr174=)
|
rs72552402
|
0.00522
|
|
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_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys)
|
rs28931570
|
0.00137
|
|
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.879C>A (p.His293Gln)
|
rs141095970
|
0.00054
|
|
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.1177C>T (p.Pro393Ser)
|
rs61761869
|
0.00031
|
|
NM_000295.5(SERPINA1):c.250G>A (p.Ala84Thr)
|
rs111850950
|
0.00031
|
|
NM_000295.5(SERPINA1):c.171C>T (p.Phe57=)
|
rs150784949
|
0.00026
|
|
NM_000295.5(SERPINA1):c.1061C>T (p.Ser354Phe)
|
rs201788603
|
0.00021
|
|
NM_000295.5(SERPINA1):c.546C>T (p.Asn182=)
|
rs113813309
|
0.00016
|
|
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.899T>G (p.Leu300Arg)
|
rs550592374
|
0.00009
|
|
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.1134G>A (p.Glu378=)
|
rs148362959
|
0.00006
|
|
NM_000295.5(SERPINA1):c.201C>G (p.His67Gln)
|
rs140744031
|
0.00006
|
|
NM_000295.5(SERPINA1):c.6G>A (p.Pro2=)
|
rs200936638
|
0.00006
|
|
NM_000295.5(SERPINA1):c.426G>A (p.Leu142=)
|
rs758835662
|
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.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_000295.5(SERPINA1):c.1029C>T (p.Ser343=)
|
rs760494093
|
0.00003
|
|
NM_000295.5(SERPINA1):c.1158C>T (p.Pro386=)
|
rs143329723
|
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.740G>A (p.Arg247His)
|
rs544632177
|
0.00003
|
|
NM_000295.5(SERPINA1):c.819C>T (p.Thr273=)
|
rs2230075
|
0.00003
|
|
NM_000295.5(SERPINA1):c.18G>A (p.Ser6=)
|
rs1343069141
|
0.00002
|
|
NM_000295.4(SERPINA1):c.721A>T (p.Lys241Ter)
|
rs199422211
|
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.1179C>T (p.Pro393=)
|
rs746728426
|
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.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.717C>T (p.Thr239=)
|
rs200634040
|
0.00001
|
|
NM_000295.5(SERPINA1):c.723G>A (p.Lys241=)
|
rs1182248085
|
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.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
|
|
NC_000014.8:g.(?_94843455)_(94847488_?)del
|
|
|
|
NC_000014.8:g.(?_94843455)_(94854896_?)del
|
|
|
|
NC_000014.8:g.(?_94847198)_(94854896_?)del
|
|
|
|
NM_000295.4(SERPINA1):c.1093G>A (p.Asp365Asn)
|
rs143370956
|
|
|
NM_000295.5(SERPINA1):c.-5+1G>A
|
|
|
|
NM_000295.5(SERPINA1):c.1023C>T (p.Asp341=)
|
|
|
|
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.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.1066-20T>A
|
|
|
|
NM_000295.5(SERPINA1):c.1066-5T>G
|
|
|
|
NM_000295.5(SERPINA1):c.1066-6C>T
|
|
|
|
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.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.1122C>T (p.Ala374=)
|
rs2139665392
|
|
|
NM_000295.5(SERPINA1):c.1130dup (p.Leu377fs)
|
rs763023697
|
|
|
NM_000295.5(SERPINA1):c.1158dup (p.Glu387fs)
|
rs764325655
|
|
|
NM_000295.5(SERPINA1):c.1176A>G (p.Lys392=)
|
rs1216502935
|
|
|
NM_000295.5(SERPINA1):c.1178C>G (p.Pro393Arg)
|
rs199422209
|
|
|
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.162G>C (p.Leu54=)
|
|
|
|
NM_000295.5(SERPINA1):c.189C>T (p.Arg63=)
|
|
|
|
NM_000295.5(SERPINA1):c.210C>T (p.Asn70=)
|
|
|
|
NM_000295.5(SERPINA1):c.221TCT[2] (p.Phe76del)
|
rs775982338
|
|
|
NM_000295.5(SERPINA1):c.237G>A (p.Val79=)
|
|
|
|
NM_000295.5(SERPINA1):c.246T>C (p.Ala82=)
|
|
|
|
NM_000295.5(SERPINA1):c.24C>T (p.Gly8=)
|
|
|
|
NM_000295.5(SERPINA1):c.279G>A (p.Lys93=)
|
|
|
|
NM_000295.5(SERPINA1):c.27C>A (p.Ile9=)
|
|
|
|
NM_000295.5(SERPINA1):c.294T>C (p.Asp98=)
|
|
|
|
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.343C>T (p.Gln115Ter)
|
|
|
|
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.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)
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rs112030253
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NM_000295.5(SERPINA1):c.519C>T (p.Asp173=)
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NM_000295.5(SERPINA1):c.538C>T (p.Gln180Ter)
|
rs864622051
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NM_000295.5(SERPINA1):c.54G>A (p.Leu18=)
|
rs745679666
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NM_000295.5(SERPINA1):c.54G>C (p.Leu18=)
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NM_000295.5(SERPINA1):c.552C>G (p.Tyr184Ter)
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rs199422210
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NM_000295.5(SERPINA1):c.552C>T (p.Tyr184=)
|
rs199422210
|
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NM_000295.5(SERPINA1):c.555G>A (p.Val185=)
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NM_000295.5(SERPINA1):c.558G>A (p.Glu186=)
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NM_000295.5(SERPINA1):c.561G>A (p.Lys187=)
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NM_000295.5(SERPINA1):c.564T>A (p.Gly188=)
|
rs769830846
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NM_000295.5(SERPINA1):c.573G>A (p.Gly191=)
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NM_000295.5(SERPINA1):c.600T>C (p.Leu200=)
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NM_000295.5(SERPINA1):c.607_608del (p.Asp203fs)
|
rs2139691603
|
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NM_000295.5(SERPINA1):c.611_612del (p.Thr204fs)
|
rs921982028
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|
NM_000295.5(SERPINA1):c.618T>C (p.Phe206=)
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NM_000295.5(SERPINA1):c.627G>C (p.Val209=)
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NM_000295.5(SERPINA1):c.646+15C>A
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NM_000295.5(SERPINA1):c.646+15C>T
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NM_000295.5(SERPINA1):c.646+16C>T
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NM_000295.5(SERPINA1):c.646+18G>C
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NM_000295.5(SERPINA1):c.647-10C>A
|
rs752544117
|
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NM_000295.5(SERPINA1):c.647-13C>T
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NM_000295.5(SERPINA1):c.647-4C>T
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NM_000295.5(SERPINA1):c.647-8C>T
|
rs950358984
|
|
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NM_000295.5(SERPINA1):c.647-9del
|
rs1566754489
|
|
|
NM_000295.5(SERPINA1):c.663C>T (p.Pro221=)
|
rs1896884042
|
|
|
NM_000295.5(SERPINA1):c.681C>G (p.Thr227=)
|
rs766320203
|
|
|
NM_000295.5(SERPINA1):c.699C>T (p.His233=)
|
|
|
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NM_000295.5(SERPINA1):c.69G>A (p.Leu23=)
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|
|
NM_000295.5(SERPINA1):c.708G>A (p.Gln236=)
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|
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NM_000295.5(SERPINA1):c.714C>T (p.Thr238=)
|
rs2139683146
|
|
|
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.768T>C (p.Cys256=)
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|
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NM_000295.5(SERPINA1):c.771G>A (p.Lys257=)
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|
|
|
NM_000295.5(SERPINA1):c.787del (p.Val263fs)
|
rs1200349975
|
|
|
NM_000295.5(SERPINA1):c.805C>T (p.Leu269=)
|
rs2139682364
|
|
|
NM_000295.5(SERPINA1):c.819C>A (p.Thr273=)
|
|
|
|
NM_000295.5(SERPINA1):c.825C>T (p.Ile275=)
|
|
|
|
NM_000295.5(SERPINA1):c.828C>T (p.Phe276=)
|
rs1566753494
|
|
|
NM_000295.5(SERPINA1):c.82del (p.Gln28fs)
|
|
|
|
NM_000295.5(SERPINA1):c.841G>T (p.Glu281Ter)
|
rs760917668
|
|
|
NM_000295.5(SERPINA1):c.847A>T (p.Lys283Ter)
|
|
|
|
NM_000295.5(SERPINA1):c.853C>T (p.Gln285Ter)
|
|
|
|
NM_000295.5(SERPINA1):c.856C>T (p.His286Tyr)
|
|
|
|
NM_000295.5(SERPINA1):c.860T>C (p.Leu287Pro)
|
|
|
|
NM_000295.5(SERPINA1):c.861G>A (p.Leu287=)
|
rs1251203297
|
|
|
NM_000295.5(SERPINA1):c.866dup (p.Asn289fs)
|
rs1555368557
|
|
|
NM_000295.5(SERPINA1):c.879C>T (p.His293=)
|
rs141095970
|
|
|
NM_000295.5(SERPINA1):c.891C>G (p.Thr297=)
|
|
|
|
NM_000295.5(SERPINA1):c.897C>T (p.Phe299=)
|
|
|
|
NM_000295.5(SERPINA1):c.899T>C (p.Leu300Pro)
|
rs550592374
|
|
|
NM_000295.5(SERPINA1):c.912C>T (p.Asp304=)
|
|
|
|
NM_000295.5(SERPINA1):c.917+13C>A
|
|
|
|
NM_000295.5(SERPINA1):c.917+20G>C
|
|
|
|
NM_000295.5(SERPINA1):c.917+9C>T
|
|
|
|
NM_000295.5(SERPINA1):c.934T>C (p.Leu312=)
|
rs2139673576
|
|
|
NM_000295.5(SERPINA1):c.943C>T (p.Leu315=)
|
|
|
|
NM_000295.5(SERPINA1):c.963T>C (p.Tyr321=)
|
|
|
|
NM_000295.5(SERPINA1):c.987A>G (p.Gln329=)
|
|
|
|
NM_000295.5(SERPINA1):c.996C>A (p.Ile332=)
|
|
|
|
NM_000295.5(SERPINA1):c.999T>C (p.Thr333=)
|
rs181491831
|
|