NM_000488.4(SERPINC1):c.1011A>G (p.Gln337=)
|
rs5878
|
0.48194
|
NM_000488.4(SERPINC1):c.981A>G (p.Val327=)
|
rs5877
|
0.48114
|
NM_000488.4(SERPINC1):c.1154-53G>A
|
rs2759328
|
0.09559
|
NM_000488.4(SERPINC1):c.1218+27G>C
|
rs677
|
0.09086
|
NM_000488.4(SERPINC1):c.42-18C>T
|
rs2227599
|
0.02503
|
NM_000488.4(SERPINC1):c.439A>G (p.Thr147Ala)
|
rs2227606
|
0.00184
|
NM_000488.4(SERPINC1):c.89T>A (p.Val30Glu)
|
rs2227624
|
0.00171
|
NM_000488.4(SERPINC1):c.1246G>T (p.Ala416Ser)
|
rs121909548
|
0.00112
|
NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu)
|
rs121909551
|
0.00092
|
NM_000488.4(SERPINC1):c.678C>T (p.Thr226=)
|
rs2227627
|
0.00045
|
NM_000488.4(SERPINC1):c.529C>T (p.Arg177Cys)
|
rs143521873
|
0.00041
|
NM_000488.4(SERPINC1):c.1005G>A (p.Val335=)
|
rs192187532
|
0.00031
|
NM_000488.4(SERPINC1):c.-57G>A
|
rs372524963
|
0.00029
|
NM_000488.4(SERPINC1):c.29C>A (p.Thr10Asn)
|
rs61736655
|
0.00029
|
NM_000488.4(SERPINC1):c.763-16T>C
|
rs145418597
|
0.00026
|
NM_000488.4(SERPINC1):c.870C>T (p.Phe290=)
|
rs370190321
|
0.00026
|
NM_000488.4(SERPINC1):c.1265T>C (p.Ile422Thr)
|
rs772809607
|
0.00021
|
NM_000488.4(SERPINC1):c.236G>A (p.Arg79His)
|
rs121909552
|
0.00018
|
NM_000488.4(SERPINC1):c.910T>C (p.Leu304=)
|
rs150507232
|
0.00015
|
NM_000488.4(SERPINC1):c.1066C>T (p.Arg356Cys)
|
rs376752370
|
0.00013
|
NM_000488.4(SERPINC1):c.808C>T (p.Leu270=)
|
rs139275128
|
0.00011
|
NM_000488.4(SERPINC1):c.299A>G (p.Asp100Gly)
|
rs369524182
|
0.00009
|
NM_000488.4(SERPINC1):c.47T>C (p.Val16Ala)
|
rs531137446
|
0.00008
|
NM_000488.4(SERPINC1):c.719A>G (p.Asn240Ser)
|
rs200861147
|
0.00006
|
NM_000488.3(SERPINC1):c.-88G>A
|
rs376206880
|
0.00005
|
NM_000488.4(SERPINC1):c.1154-5T>C
|
rs375346550
|
0.00005
|
NM_000488.4(SERPINC1):c.235C>T (p.Arg79Cys)
|
rs121909547
|
0.00005
|
NM_000488.4(SERPINC1):c.886G>C (p.Ala296Pro)
|
rs372820797
|
0.00005
|
NM_000488.4(SERPINC1):c.995C>T (p.Thr332Ile)
|
rs567550044
|
0.00005
|
NM_000488.4(SERPINC1):c.1096C>G (p.Gln366Glu)
|
rs565091601
|
0.00004
|
NM_000488.4(SERPINC1):c.1172G>A (p.Arg391Gln)
|
rs201541724
|
0.00004
|
NM_000488.4(SERPINC1):c.586T>C (p.Leu196=)
|
rs781696456
|
0.00004
|
NM_000488.4(SERPINC1):c.595G>A (p.Gly199Arg)
|
rs778341415
|
0.00004
|
NM_000488.4(SERPINC1):c.708G>A (p.Ser236=)
|
rs774632265
|
0.00004
|
NM_000488.4(SERPINC1):c.872G>A (p.Arg291His)
|
rs377588972
|
0.00004
|
NM_000488.4(SERPINC1):c.87C>T (p.Cys29=)
|
rs188274879
|
0.00004
|
NM_000488.4(SERPINC1):c.100G>A (p.Gly34Arg)
|
rs773254902
|
0.00003
|
NM_000488.4(SERPINC1):c.1254C>T (p.Thr418=)
|
rs559277597
|
0.00003
|
NM_000488.4(SERPINC1):c.594T>C (p.Tyr198=)
|
rs183416252
|
0.00003
|
NM_000488.4(SERPINC1):c.99C>T (p.His33=)
|
rs147676453
|
0.00003
|
NM_000488.4(SERPINC1):c.201C>T (p.Gly67=)
|
rs773751914
|
0.00002
|
NM_000488.4(SERPINC1):c.219G>A (p.Pro73=)
|
rs746429528
|
0.00002
|
NM_000488.4(SERPINC1):c.633A>G (p.Ala211=)
|
rs780062808
|
0.00002
|
NM_000488.4(SERPINC1):c.871C>T (p.Arg291Cys)
|
rs764695432
|
0.00002
|
NM_000488.4(SERPINC1):c.1054A>G (p.Met352Val)
|
rs886045594
|
0.00001
|
NM_000488.4(SERPINC1):c.1060C>T (p.Arg354Cys)
|
rs765761813
|
0.00001
|
NM_000488.4(SERPINC1):c.1119C>T (p.Val373=)
|
rs1271197978
|
0.00001
|
NM_000488.4(SERPINC1):c.1218+7A>G
|
rs899914657
|
0.00001
|
NM_000488.4(SERPINC1):c.1256C>T (p.Ala419Val)
|
rs121909568
|
0.00001
|
NM_000488.4(SERPINC1):c.1278G>A (p.Ser426=)
|
rs773792958
|
0.00001
|
NM_000488.4(SERPINC1):c.1315C>A (p.Pro439Thr)
|
rs1487411568
|
0.00001
|
NM_000488.4(SERPINC1):c.133C>T (p.Arg45Trp)
|
rs768704768
|
0.00001
|
NM_000488.4(SERPINC1):c.1342C>T (p.Pro448Ser)
|
rs376029223
|
0.00001
|
NM_000488.4(SERPINC1):c.192G>A (p.Glu64=)
|
rs1462236331
|
0.00001
|
NM_000488.4(SERPINC1):c.233G>A (p.Arg78Gln)
|
rs774294043
|
0.00001
|
NM_000488.4(SERPINC1):c.237T>C (p.Arg79=)
|
rs781591817
|
0.00001
|
NM_000488.4(SERPINC1):c.31T>A (p.Ser11Thr)
|
rs1445653081
|
0.00001
|
NM_000488.4(SERPINC1):c.382A>T (p.Asn128Tyr)
|
rs1657908048
|
0.00001
|
NM_000488.4(SERPINC1):c.391C>T (p.Leu131Phe)
|
rs121909567
|
0.00001
|
NM_000488.4(SERPINC1):c.408+4C>T
|
rs201551398
|
0.00001
|
NM_000488.4(SERPINC1):c.436A>G (p.Lys146Glu)
|
rs1170430756
|
0.00001
|
NM_000488.4(SERPINC1):c.449A>C (p.Gln150Pro)
|
rs765445413
|
0.00001
|
NM_000488.4(SERPINC1):c.468C>T (p.Ala156=)
|
rs759369437
|
0.00001
|
NM_000488.4(SERPINC1):c.530G>A (p.Arg177His)
|
rs878854020
|
0.00001
|
NM_000488.4(SERPINC1):c.648G>A (p.Ala216=)
|
rs767468032
|
0.00001
|
NM_000488.4(SERPINC1):c.655A>G (p.Asn219Asp)
|
rs121909571
|
0.00001
|
NM_000488.4(SERPINC1):c.685C>T (p.Arg229Ter)
|
rs1657743081
|
0.00001
|
NM_000488.4(SERPINC1):c.716T>C (p.Ile239Thr)
|
rs749510661
|
0.00001
|
NM_000488.4(SERPINC1):c.756C>T (p.Tyr252=)
|
rs745970800
|
0.00001
|
NM_000488.4(SERPINC1):c.805G>A (p.Glu269Lys)
|
rs758087836
|
0.00001
|
NM_000488.4(SERPINC1):c.881G>A (p.Arg294His)
|
rs587776397
|
0.00001
|
NM_000488.4(SERPINC1):c.914C>A (p.Pro305His)
|
rs549991084
|
0.00001
|
NM_000488.4(SERPINC1):c.946A>T (p.Ile316Phe)
|
rs1657686098
|
0.00001
|
NM_000488.4(SERPINC1):c.975C>G (p.Ala325=)
|
rs200857896
|
0.00001
|
NM_000488.4(SERPINC1):c.980T>C (p.Val327Ala)
|
rs773399107
|
0.00001
|
AT-III Barcelona
|
|
|
AT-III Fontainebleu
|
|
|
AT-III Roma
|
|
|
AT-III Trento
|
|
|
Multiple alleles
|
|
|
NC_000001.11:g.(?_173903804)_(173917378_?)del
|
|
|
NC_000001.11:g.173905922_173905923ins[NC_000006.11:56893618_56896059]
|
|
|
NC_000001.11:g.173908412_173919816dup
|
|
|
NC_000001.11:g.173911749_173917428del
|
|
|
NC_000001.11:g.173914640_173922032del
|
|
|
NC_000001.11:g.173917430G>C
|
|
|
NM_000488.3(SERPINC1):c.0_41+931del
|
|
|
NM_000488.4(SERPINC1):c.-175_-174delTA
|
|
|
NM_000488.4(SERPINC1):c.1000G>A (p.Glu334Lys)
|
|
|
NM_000488.4(SERPINC1):c.1003del (p.Val335fs)
|
|
|
NM_000488.4(SERPINC1):c.1007T>C (p.Leu336Pro)
|
|
|
NM_000488.4(SERPINC1):c.1008G>C (p.Leu336=)
|
|
|
NM_000488.4(SERPINC1):c.1009C>T (p.Gln337Ter)
|
|
|
NM_000488.4(SERPINC1):c.1016G>A (p.Trp339Ter)
|
rs483352856
|
|
NM_000488.4(SERPINC1):c.1021_1024del (p.Asp341fs)
|
rs121909561
|
|
NM_000488.4(SERPINC1):c.1051C>T (p.His351Tyr)
|
|
|
NM_000488.4(SERPINC1):c.1057C>T (p.Pro353Ser)
|
rs2102782517
|
|
NM_000488.4(SERPINC1):c.1058C>T (p.Pro353Leu)
|
|
|
NM_000488.4(SERPINC1):c.105C>T (p.Ser35=)
|
|
|
NM_000488.4(SERPINC1):c.1060del (p.Arg354fs)
|
rs863224495
|
|
NM_000488.4(SERPINC1):c.1063T>G (p.Phe355Val)
|
|
|
NM_000488.4(SERPINC1):c.1078G>A (p.Gly360Ser)
|
|
|
NM_000488.4(SERPINC1):c.1099C>G (p.Leu367Val)
|
rs1657673747
|
|
NM_000488.4(SERPINC1):c.1106A>G (p.Asp369Gly)
|
|
|
NM_000488.4(SERPINC1):c.1110G>A (p.Met370Ile)
|
|
|
NM_000488.4(SERPINC1):c.1121A>G (p.Asp374Gly)
|
|
|
NM_000488.4(SERPINC1):c.1123C>A (p.Leu375Met)
|
|
|
NM_000488.4(SERPINC1):c.1141T>C (p.Ser381Pro)
|
rs121909565
|
|
NM_000488.4(SERPINC1):c.1153+5G>T
|
rs1572088348
|
|
NM_000488.4(SERPINC1):c.1153+7C>T
|
|
|
NM_000488.4(SERPINC1):c.1154-14G>A
|
rs542881762
|
|
NM_000488.4(SERPINC1):c.1154-14G>C
|
|
|
NM_000488.4(SERPINC1):c.1154-15C>T
|
|
|
NM_000488.4(SERPINC1):c.1154-324_1218+475dup
|
rs2102778169
|
|
NM_000488.4(SERPINC1):c.1154-40_1218+127dup
|
rs2102778641
|
|
NM_000488.4(SERPINC1):c.1154-50_1218+50del
|
rs1572086894
|
|
NM_000488.4(SERPINC1):c.1154-898_1218+410del
|
|
|
NM_000488.4(SERPINC1):c.1154G>A (p.Gly385Asp)
|
rs878854018
|
|
NM_000488.4(SERPINC1):c.1157T>C (p.Ile386Thr)
|
rs1449772752
|
|
NM_000488.4(SERPINC1):c.1165G>A (p.Glu389Lys)
|
|
|
NM_000488.4(SERPINC1):c.1169dup (p.Arg391fs)
|
|
|
NM_000488.4(SERPINC1):c.116T>A (p.Ile39Asn)
|
rs121909558
|
|
NM_000488.4(SERPINC1):c.116T>C (p.Ile39Thr)
|
rs121909558
|
|
NM_000488.4(SERPINC1):c.1171C>T (p.Arg391Ter)
|
|
|
NM_000488.4(SERPINC1):c.1190C>G (p.Ser397Ter)
|
rs2102778910
|
|
NM_000488.4(SERPINC1):c.1204A>G (p.Lys402Glu)
|
|
|
NM_000488.4(SERPINC1):c.1205del (p.Lys402fs)
|
rs2102778876
|
|
NM_000488.4(SERPINC1):c.1206G>C (p.Lys402Asn)
|
rs920003404
|
|
NM_000488.4(SERPINC1):c.1207G>T (p.Ala403Ser)
|
|
|
NM_000488.4(SERPINC1):c.1207del (p.Ala403fs)
|
|
|
NM_000488.4(SERPINC1):c.1218+11C>T
|
|
|
NM_000488.4(SERPINC1):c.1219-16C>T
|
|
|
NM_000488.4(SERPINC1):c.1219-1G>A
|
|
|
NM_000488.4(SERPINC1):c.1219-2A>G
|
rs2102773374
|
|
NM_000488.4(SERPINC1):c.1219-8A>G
|
|
|
NM_000488.4(SERPINC1):c.1231G>C (p.Gly411Arg)
|
rs2102773346
|
|
NM_000488.4(SERPINC1):c.1235G>A (p.Ser412Asn)
|
|
|
NM_000488.4(SERPINC1):c.1240G>A (p.Ala414Thr)
|
rs121909557
|
|
NM_000488.4(SERPINC1):c.1246G>C (p.Ala416Pro)
|
rs121909548
|
|
NM_000488.4(SERPINC1):c.1247dup (p.Ser417fs)
|
|
|
NM_000488.4(SERPINC1):c.1267G>A (p.Ala423Thr)
|
rs1008874845
|
|
NM_000488.4(SERPINC1):c.1271G>A (p.Gly424Asp)
|
rs121909566
|
|
NM_000488.4(SERPINC1):c.1273C>T (p.Arg425Cys)
|
rs121909554
|
|
NM_000488.4(SERPINC1):c.1273_1275del (p.Arg425del)
|
rs2102773181
|
|
NM_000488.4(SERPINC1):c.1274G>A (p.Arg425His)
|
rs121909549
|
|
NM_000488.4(SERPINC1):c.1274G>C (p.Arg425Pro)
|
rs121909549
|
|
NM_000488.4(SERPINC1):c.1275T>C (p.Arg425=)
|
rs1227097057
|
|
NM_000488.4(SERPINC1):c.1277C>G (p.Ser426Trp)
|
rs121909550
|
|
NM_000488.4(SERPINC1):c.1277C>T (p.Ser426Leu)
|
rs121909550
|
|
NM_000488.4(SERPINC1):c.1284C>G (p.Asn428Lys)
|
|
|
NM_000488.4(SERPINC1):c.1284C>T (p.Asn428=)
|
|
|
NM_000488.4(SERPINC1):c.1301T>G (p.Phe434Cys)
|
rs1572084546
|
|
NM_000488.4(SERPINC1):c.1302C>A (p.Phe434Leu)
|
|
|
NM_000488.4(SERPINC1):c.1306G>A (p.Ala436Thr)
|
rs121909546
|
|
NM_000488.4(SERPINC1):c.1311C>G (p.Asn437Lys)
|
|
|
NM_000488.4(SERPINC1):c.1315C>G (p.Pro439Ala)
|
rs1487411568
|
|
NM_000488.4(SERPINC1):c.1315C>T (p.Pro439Ser)
|
rs1487411568
|
|
NM_000488.4(SERPINC1):c.1316C>T (p.Pro439Leu)
|
rs121909555
|
|
NM_000488.4(SERPINC1):c.132G>A (p.Pro44=)
|
|
|
NM_000488.4(SERPINC1):c.1331T>A (p.Ile444Lys)
|
rs2102773041
|
|
NM_000488.4(SERPINC1):c.1338A>G (p.Glu446=)
|
|
|
NM_000488.4(SERPINC1):c.1350C>T (p.Asn450=)
|
|
|
NM_000488.4(SERPINC1):c.1355T>C (p.Ile452Thr)
|
|
|
NM_000488.4(SERPINC1):c.1358T>C (p.Ile453Thr)
|
|
|
NM_000488.4(SERPINC1):c.1366G>C (p.Gly456Arg)
|
|
|
NM_000488.4(SERPINC1):c.1373_1381del (p.Val458_Pro461delinsAla)
|
rs2102772927
|
|
NM_000488.4(SERPINC1):c.1376C>A (p.Ala459Asp)
|
rs1572084448
|
|
NM_000488.4(SERPINC1):c.1382C>T (p.Pro461Leu)
|
rs121909564
|
|
NM_000488.4(SERPINC1):c.138C>T (p.Asp46=)
|
|
|
NM_000488.4(SERPINC1):c.1393T>C (p.Ter465Gln)
|
rs1572084425
|
|
NM_000488.4(SERPINC1):c.1395A>C (p.Ter465Tyr)
|
|
|
NM_000488.4(SERPINC1):c.155del (p.Met52fs)
|
rs1572092103
|
|
NM_000488.4(SERPINC1):c.15G>T (p.Val5=)
|
|
|
NM_000488.4(SERPINC1):c.166C>T (p.Arg56Cys)
|
rs28929469
|
|
NM_000488.4(SERPINC1):c.171C>T (p.Ser57=)
|
|
|
NM_000488.4(SERPINC1):c.173dup (p.Glu59fs)
|
rs1572092076
|
|
NM_000488.4(SERPINC1):c.205G>T (p.Glu69Ter)
|
|
|
NM_000488.4(SERPINC1):c.21A>T (p.Gly7=)
|
|
|
NM_000488.4(SERPINC1):c.235C>A (p.Arg79Ser)
|
rs121909547
|
|
NM_000488.4(SERPINC1):c.237dup (p.Val80fs)
|
rs2102789885
|
|
NM_000488.4(SERPINC1):c.240C>T (p.Val80=)
|
rs2102789873
|
|
NM_000488.4(SERPINC1):c.243G>A (p.Trp81Ter)
|
|
|
NM_000488.4(SERPINC1):c.260A>G (p.Asn87Ser)
|
rs2102789848
|
|
NM_000488.4(SERPINC1):c.266_318del (p.Arg89fs)
|
|
|
NM_000488.4(SERPINC1):c.269T>G (p.Phe90Cys)
|
|
|
NM_000488.4(SERPINC1):c.272C>T (p.Ala91Val)
|
|
|
NM_000488.4(SERPINC1):c.280_283del (p.Phe94fs)
|
|
|
NM_000488.4(SERPINC1):c.283T>C (p.Tyr95His)
|
rs1657913203
|
|
NM_000488.4(SERPINC1):c.28dup (p.Thr10fs)
|
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NM_000488.4(SERPINC1):c.296C>A (p.Ala99Glu)
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rs2102789784
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NM_000488.4(SERPINC1):c.30C>A (p.Thr10=)
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NM_000488.4(SERPINC1):c.322_327del (p.Ile108_Phe109del)
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rs1572091831
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NM_000488.4(SERPINC1):c.331T>C (p.Ser111Pro)
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NM_000488.4(SERPINC1):c.333A>G (p.Ser111=)
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rs2102789680
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NM_000488.4(SERPINC1):c.337C>T (p.Leu113=)
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NM_000488.4(SERPINC1):c.341G>A (p.Ser114Asn)
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rs1657909645
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NM_000488.4(SERPINC1):c.342T>C (p.Ser114=)
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NM_000488.4(SERPINC1):c.363G>A (p.Met121Ile)
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rs371222224
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NM_000488.4(SERPINC1):c.365C>A (p.Thr122Asn)
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rs1253864431
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NM_000488.4(SERPINC1):c.366C>G (p.Thr122=)
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rs2102789624
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NM_000488.4(SERPINC1):c.370C>T (p.Leu124=)
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NM_000488.4(SERPINC1):c.374G>A (p.Gly125Asp)
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NM_000488.4(SERPINC1):c.379T>C (p.Cys127Arg)
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rs121909573
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NM_000488.4(SERPINC1):c.381T>A (p.Cys127Ter)
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rs2102789590
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NM_000488.4(SERPINC1):c.399A>C (p.Gln133His)
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rs878854019
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NM_000488.4(SERPINC1):c.400del (p.Gln133_Leu134insTer)
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rs1572091783
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NM_000488.4(SERPINC1):c.408+948_763-386del
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NM_000488.4(SERPINC1):c.408G>A (p.Glu136=)
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rs763087077
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NM_000488.4(SERPINC1):c.409-11G>T
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NM_000488.4(SERPINC1):c.409-12del
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rs201656611
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NM_000488.4(SERPINC1):c.409-12dup
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rs201656611
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NM_000488.4(SERPINC1):c.409-1G>C
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NM_000488.4(SERPINC1):c.409-1G>T
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NM_000488.4(SERPINC1):c.409-8T>C
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NM_000488.4(SERPINC1):c.41+12G>A
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NM_000488.4(SERPINC1):c.41+297_55del
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NM_000488.4(SERPINC1):c.41+5G>A
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NM_000488.4(SERPINC1):c.410T>C (p.Val137Ala)
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rs1657792806
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NM_000488.4(SERPINC1):c.415_420del (p.Lys139_Phe140del)
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rs1572090368
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NM_000488.4(SERPINC1):c.417G>A (p.Lys139=)
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rs2102786232
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NM_000488.4(SERPINC1):c.42-10C>A
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NM_000488.4(SERPINC1):c.42-15T>C
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NM_000488.4(SERPINC1):c.42-486_1154-846del
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NM_000488.4(SERPINC1):c.423C>T (p.Asp141=)
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rs1657792288
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NM_000488.4(SERPINC1):c.442T>C (p.Ser148Pro)
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rs121909569
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NM_000488.4(SERPINC1):c.448dup (p.Gln150fs)
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rs1572090305
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NM_000488.4(SERPINC1):c.452T>A (p.Ile151Asn)
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NM_000488.4(SERPINC1):c.456CTT[2] (p.Phe155del)
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rs786204063
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NM_000488.4(SERPINC1):c.473T>C (p.Leu158Pro)
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rs2102786101
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NM_000488.4(SERPINC1):c.481C>T (p.Arg161Ter)
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rs121909562
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NM_000488.4(SERPINC1):c.482G>A (p.Arg161Gln)
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rs121909563
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NM_000488.4(SERPINC1):c.485T>C (p.Leu162Pro)
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rs1657788029
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NM_000488.4(SERPINC1):c.490C>T (p.Arg164Ter)
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NM_000488.4(SERPINC1):c.500A>C (p.Asn167Thr)
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rs121909570
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NM_000488.4(SERPINC1):c.50_52dup (p.Tyr17_Leu18insHis)
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NM_000488.4(SERPINC1):c.51T>C (p.Tyr17=)
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rs2102790373
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NM_000488.4(SERPINC1):c.525C>T (p.Ala175=)
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rs1553218235
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NM_000488.4(SERPINC1):c.536T>C (p.Phe179Ser)
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rs483352847
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NM_000488.4(SERPINC1):c.547T>C (p.Ser183Pro)
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rs2102785961
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NM_000488.4(SERPINC1):c.550del (p.Thr185fs)
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rs1572090173
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NM_000488.4(SERPINC1):c.551T>C (p.Leu184Pro)
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NM_000488.4(SERPINC1):c.553A>G (p.Thr185Ala)
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rs574547491
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NM_000488.4(SERPINC1):c.568T>C (p.Tyr190His)
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NM_000488.4(SERPINC1):c.580A>C (p.Ser194Arg)
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NM_000488.4(SERPINC1):c.591A>G (p.Val197=)
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NM_000488.4(SERPINC1):c.592T>C (p.Tyr198His)
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rs1572090114
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NM_000488.4(SERPINC1):c.607C>T (p.Gln203Ter)
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rs2102785788
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NM_000488.4(SERPINC1):c.614T>C (p.Leu205Pro)
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NM_000488.4(SERPINC1):c.624+18C>T
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NM_000488.4(SERPINC1):c.624+1G>A
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rs1572090079
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NM_000488.4(SERPINC1):c.624+5_624+12del
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NM_000488.4(SERPINC1):c.625-5C>G
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NM_000488.4(SERPINC1):c.625-9T>C
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rs2102784825
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NM_000488.4(SERPINC1):c.641C>A (p.Ser214Tyr)
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rs483352854
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NM_000488.4(SERPINC1):c.645A>G (p.Arg215=)
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rs863224366
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NM_000488.4(SERPINC1):c.657C>G (p.Asn219Lys)
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NM_000488.4(SERPINC1):c.662G>C (p.Trp221Ser)
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rs1553218111
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NM_000488.4(SERPINC1):c.665T>A (p.Val222Glu)
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rs1657744293
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NM_000488.4(SERPINC1):c.667T>C (p.Ser223Pro)
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rs121909572
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NM_000488.4(SERPINC1):c.669C>A (p.Ser223=)
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NM_000488.4(SERPINC1):c.678C>G (p.Thr226=)
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NM_000488.4(SERPINC1):c.679G>A (p.Glu227Lys)
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NM_000488.4(SERPINC1):c.679G>T (p.Glu227Ter)
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NM_000488.4(SERPINC1):c.68T>C (p.Leu23Pro)
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rs387906575
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NM_000488.4(SERPINC1):c.693C>A (p.Thr231=)
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NM_000488.4(SERPINC1):c.693C>G (p.Thr231=)
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rs140452859
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NM_000488.4(SERPINC1):c.693C>T (p.Thr231=)
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rs140452859
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NM_000488.4(SERPINC1):c.719dup (p.Asn240fs)
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rs2102784614
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NM_000488.4(SERPINC1):c.749C>T (p.Thr250Ile)
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NM_000488.4(SERPINC1):c.74G>A (p.Gly25Asp)
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NM_000488.4(SERPINC1):c.750C>A (p.Thr250=)
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rs1018454989
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NM_000488.4(SERPINC1):c.752T>C (p.Ile251Thr)
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NM_000488.4(SERPINC1):c.762+19G>C
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NM_000488.4(SERPINC1):c.762+7A>G
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rs2102784549
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NM_000488.4(SERPINC1):c.763-379_1084del
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rs2102782435
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NM_000488.4(SERPINC1):c.766del (p.Leu256fs)
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rs1572088865
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NM_000488.4(SERPINC1):c.771del (p.Leu256_Trp257insTer)
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rs1572088853
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NM_000488.4(SERPINC1):c.777A>C (p.Ser259=)
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rs746961120
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NM_000488.4(SERPINC1):c.778A>T (p.Lys260Ter)
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NM_000488.4(SERPINC1):c.779dup (p.Phe261fs)
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rs1572088837
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NM_000488.4(SERPINC1):c.790G>C (p.Glu264Gln)
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NM_000488.4(SERPINC1):c.797C>A (p.Thr266Lys)
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rs1572088824
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NM_000488.4(SERPINC1):c.79T>C (p.Trp27Arg)
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NM_000488.4(SERPINC1):c.801_805del (p.Lys268fs)
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rs1572088823
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NM_000488.4(SERPINC1):c.819G>C (p.Lys273Asn)
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rs2102783199
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NM_000488.4(SERPINC1):c.830_831del (p.Glu277fs)
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rs1657694750
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NM_000488.4(SERPINC1):c.830del (p.Glu277fs)
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rs1572088775
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NM_000488.4(SERPINC1):c.834G>A (p.Ser278=)
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NM_000488.4(SERPINC1):c.84_409-536del
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NM_000488.4(SERPINC1):c.851T>A (p.Met284Lys)
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rs1572088737
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NM_000488.4(SERPINC1):c.851T>C (p.Met284Thr)
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NM_000488.4(SERPINC1):c.851T>G (p.Met284Arg)
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rs1572088737
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NM_000488.4(SERPINC1):c.860A>T (p.Glu287Val)
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rs1404578967
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NM_000488.4(SERPINC1):c.873T>C (p.Arg291=)
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NM_000488.4(SERPINC1):c.875A>T (p.Tyr292Phe)
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NM_000488.4(SERPINC1):c.876T>C (p.Tyr292=)
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NM_000488.4(SERPINC1):c.878G>A (p.Arg293Gln)
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NM_000488.4(SERPINC1):c.882C>G (p.Arg294=)
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rs184508490
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NM_000488.4(SERPINC1):c.882C>T (p.Arg294=)
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NM_000488.4(SERPINC1):c.885G>T (p.Val295=)
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NM_000488.4(SERPINC1):c.88G>A (p.Val30Met)
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NM_000488.4(SERPINC1):c.894C>T (p.Gly298=)
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NM_000488.4(SERPINC1):c.925G>A (p.Asp309Asn)
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NM_000488.4(SERPINC1):c.951G>T (p.Leu317Phe)
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rs1468108124
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NM_000488.4(SERPINC1):c.953C>T (p.Pro318Leu)
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rs1460568494
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NM_000488.4(SERPINC1):c.967_968del (p.Ser323fs)
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rs121909560
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NM_000488.4(SERPINC1):c.98dup (p.His33fs)
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Single allele
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