ClinVar Miner

List of variants in gene SERPINI1 studied for epilepsy

Included ClinVar conditions (435):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 340
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HGVS dbSNP gnomAD frequency
NC_000003.12:g.167735203T>C rs11714980 0.27020
NM_001122752.2(SERPINI1):c.51A>G (p.Thr17=) rs34582040 0.13147
NM_001122752.2(SERPINI1):c.21C>G (p.Phe7Leu) rs33917740 0.13145
NM_001122752.2(SERPINI1):c.576G>A (p.Ser192=) rs2229697 0.13143
NM_001122752.2(SERPINI1):c.838G>A (p.Ala280Thr) rs55872908 0.01092
NM_001122752.2(SERPINI1):c.881+10T>G rs113533056 0.00693
NM_001122752.2(SERPINI1):c.250+13A>G rs77880879 0.00659
NM_001122752.2(SERPINI1):c.289G>A (p.Val97Ile) rs61750375 0.00340
NM_001122752.2(SERPINI1):c.482-20A>G rs2420038 0.00327
NM_001122752.2(SERPINI1):c.297T>G (p.Ala99=) rs61761891 0.00319
NM_001122752.2(SERPINI1):c.518A>G (p.Asp173Gly) rs61735309 0.00308
NM_001122752.2(SERPINI1):c.40A>G (p.Ser14Gly) rs61735307 0.00240
NM_001122752.2(SERPINI1):c.*197T>C rs532826558 0.00181
NM_001122752.2(SERPINI1):c.77T>C (p.Ile26Thr) rs146948408 0.00142
NM_001122752.2(SERPINI1):c.432T>C (p.Asn144=) rs140116256 0.00112
NM_001122752.2(SERPINI1):c.208A>G (p.Lys70Glu) rs11547811 0.00078
NM_001122752.2(SERPINI1):c.106C>A (p.Arg36Ser) rs61735306 0.00073
NM_001122752.2(SERPINI1):c.218G>A (p.Arg73His) rs139808176 0.00063
NM_001122752.2(SERPINI1):c.340G>A (p.Val114Met) rs61735308 0.00051
NM_001122752.2(SERPINI1):c.1183A>G (p.Met395Val) rs144637103 0.00043
NM_001122752.2(SERPINI1):c.217C>T (p.Arg73Cys) rs369596299 0.00031
NM_001122752.2(SERPINI1):c.248A>T (p.Asn83Ile) rs150681002 0.00026
NM_001122752.2(SERPINI1):c.-23G>A rs886058166 0.00019
NM_001122752.2(SERPINI1):c.990G>T (p.Glu330Asp) rs372246975 0.00014
NM_001122752.2(SERPINI1):c.1125A>G (p.Pro375=) rs753147816 0.00013
NM_001122752.2(SERPINI1):c.508A>G (p.Arg170Gly) rs774989939 0.00013
NM_001122752.2(SERPINI1):c.286A>G (p.Met96Val) rs372528371 0.00011
NM_001122752.2(SERPINI1):c.1116C>T (p.Val372=) rs142605327 0.00009
NM_001122752.2(SERPINI1):c.18C>A (p.Leu6=) rs752294814 0.00009
NM_001122752.2(SERPINI1):c.251-10C>G rs200606523 0.00007
NM_001122752.2(SERPINI1):c.482-6A>C rs773900198 0.00006
NM_001122752.2(SERPINI1):c.482-7del rs780104028 0.00006
NM_001122752.2(SERPINI1):c.1066+10G>T rs773079957 0.00005
NM_001122752.2(SERPINI1):c.414T>C (p.His138=) rs758630825 0.00005
NM_001122752.2(SERPINI1):c.76A>G (p.Ile26Val) rs372678518 0.00005
NM_001122752.2(SERPINI1):c.1222G>A (p.Glu408Lys) rs756112704 0.00004
NM_001122752.2(SERPINI1):c.332C>T (p.Ser111Phe) rs769602150 0.00004
NM_001122752.2(SERPINI1):c.1173G>A (p.Met391Ile) rs1370761997 0.00003
NM_001122752.2(SERPINI1):c.250+14G>C rs769937767 0.00003
NM_001122752.2(SERPINI1):c.404C>T (p.Ala135Val) rs746127233 0.00003
NM_001122752.2(SERPINI1):c.439G>A (p.Val147Met) rs772999261 0.00003
NM_001122752.2(SERPINI1):c.61T>C (p.Phe21Leu) rs545345009 0.00003
NM_001122752.2(SERPINI1):c.1201A>C (p.Asn401His) rs780903060 0.00002
NM_001122752.2(SERPINI1):c.1221C>A (p.Phe407Leu) rs149238028 0.00002
NM_001122752.2(SERPINI1):c.192C>T (p.Ala64=) rs889665899 0.00002
NM_001122752.2(SERPINI1):c.221A>G (p.His74Arg) rs757918199 0.00002
NM_001122752.2(SERPINI1):c.281C>T (p.Ser94Leu) rs781486255 0.00002
NM_001122752.2(SERPINI1):c.388A>C (p.Lys130Gln) rs967193064 0.00002
NM_001122752.2(SERPINI1):c.881+4T>G rs766034834 0.00002
NM_001122752.2(SERPINI1):c.917T>C (p.Val306Ala) rs779353952 0.00002
NM_001122752.2(SERPINI1):c.923A>C (p.Lys308Thr) rs201695047 0.00002
NM_001122752.2(SERPINI1):c.980-7T>G rs1459038029 0.00002
NM_001122752.2(SERPINI1):c.1008A>G (p.Ala336=) rs1330766416 0.00001
NM_001122752.2(SERPINI1):c.1033A>G (p.Asn345Asp) rs200482511 0.00001
NM_001122752.2(SERPINI1):c.107G>A (p.Arg36His) rs780236670 0.00001
NM_001122752.2(SERPINI1):c.1117G>A (p.Asp373Asn) rs767865960 0.00001
NM_001122752.2(SERPINI1):c.115G>A (p.Ala39Thr) rs1307825318 0.00001
NM_001122752.2(SERPINI1):c.1186C>T (p.His396Tyr) rs750646140 0.00001
NM_001122752.2(SERPINI1):c.133A>G (p.Asn45Asp) rs769089864 0.00001
NM_001122752.2(SERPINI1):c.144C>A (p.Phe48Leu) rs776746623 0.00001
NM_001122752.2(SERPINI1):c.147T>C (p.Ser49=) rs1450628576 0.00001
NM_001122752.2(SERPINI1):c.166G>T (p.Ala56Ser) rs1050971384 0.00001
NM_001122752.2(SERPINI1):c.198A>G (p.Gly66=) rs1288169432 0.00001
NM_001122752.2(SERPINI1):c.20T>C (p.Phe7Ser) rs191197474 0.00001
NM_001122752.2(SERPINI1):c.250+5G>A rs1447537890 0.00001
NM_001122752.2(SERPINI1):c.251-18T>C rs565445764 0.00001
NM_001122752.2(SERPINI1):c.302A>T (p.Glu101Val) rs749315755 0.00001
NM_001122752.2(SERPINI1):c.306C>T (p.Ser102=) rs1727464431 0.00001
NM_001122752.2(SERPINI1):c.317T>A (p.Met106Lys) rs768598501 0.00001
NM_001122752.2(SERPINI1):c.342G>A (p.Val114=) rs373426986 0.00001
NM_001122752.2(SERPINI1):c.438C>T (p.Ala146=) rs769806907 0.00001
NM_001122752.2(SERPINI1):c.473A>G (p.Asn158Ser) rs767144751 0.00001
NM_001122752.2(SERPINI1):c.481+4T>C rs1191891165 0.00001
NM_001122752.2(SERPINI1):c.482-5A>G rs1382961035 0.00001
NM_001122752.2(SERPINI1):c.48T>A (p.Ala16=) rs138644986 0.00001
NM_001122752.2(SERPINI1):c.526A>G (p.Thr176Ala) rs762427588 0.00001
NM_001122752.2(SERPINI1):c.575C>T (p.Ser192Leu) rs777452195 0.00001
NM_001122752.2(SERPINI1):c.582T>C (p.Phe194=) rs370446701 0.00001
NM_001122752.2(SERPINI1):c.596C>T (p.Thr199Ile) rs61761892 0.00001
NM_001122752.2(SERPINI1):c.677-20G>A rs372974126 0.00001
NM_001122752.2(SERPINI1):c.684T>C (p.Phe228=) rs557897218 0.00001
NM_001122752.2(SERPINI1):c.694T>G (p.Ser232Ala) rs749782862 0.00001
NM_001122752.2(SERPINI1):c.703G>T (p.Ala235Ser) rs774334657 0.00001
NM_001122752.2(SERPINI1):c.717C>T (p.Tyr239=) rs775700678 0.00001
NM_001122752.2(SERPINI1):c.738T>C (p.Tyr246=) rs758312709 0.00001
NM_001122752.2(SERPINI1):c.747T>C (p.Asp249=) rs751092222 0.00001
NM_001122752.2(SERPINI1):c.778C>A (p.Gln260Lys) rs780784169 0.00001
NM_001122752.2(SERPINI1):c.796A>G (p.Thr266Ala) rs1210708843 0.00001
NM_001122752.2(SERPINI1):c.817G>A (p.Ala273Thr) rs778331359 0.00001
NM_001122752.2(SERPINI1):c.841A>C (p.Asn281His) rs151212615 0.00001
NM_001122752.2(SERPINI1):c.854A>C (p.Lys285Thr) rs772141992 0.00001
NM_001122752.2(SERPINI1):c.862G>A (p.Val288Ile) rs760906938 0.00001
NM_001122752.2(SERPINI1):c.881+13T>G rs372395802 0.00001
NM_001122752.2(SERPINI1):c.90A>C (p.Ser30=) rs1423056952 0.00001
NM_001122752.2(SERPINI1):c.914A>T (p.Asp305Val) rs756818970 0.00001
NM_001122752.2(SERPINI1):c.965T>G (p.Leu322Trp) rs1271122328 0.00001
NC_000003.11:g.(?_167506917)_(167508410_?)del
NC_000003.12:g.(?_167822966)_(167825343_?)del
NC_000003.12:g.167735251T>C rs9853967
NC_000003.12:g.167825585dup rs547381979
NM_001122752.2(SERPINI1):c.*172T>A rs886058170
NM_001122752.2(SERPINI1):c.*87A>G rs1712486520
NM_001122752.2(SERPINI1):c.-19+22G>T rs1559989168
NM_001122752.2(SERPINI1):c.-19+48C>T rs886058167
NM_001122752.2(SERPINI1):c.-19+6C>T rs562830304
NM_001122752.2(SERPINI1):c.-84GGAGC[3] rs886058165
NM_001122752.2(SERPINI1):c.1006G>A (p.Ala336Thr) rs1268255256
NM_001122752.2(SERPINI1):c.1006G>T (p.Ala336Ser)
NM_001122752.2(SERPINI1):c.1013A>G (p.His338Arg) rs121909052
NM_001122752.2(SERPINI1):c.1020C>A (p.Ser340=)
NM_001122752.2(SERPINI1):c.1026A>G (p.Leu342=) rs2108575349
NM_001122752.2(SERPINI1):c.1030G>T (p.Val344Phe)
NM_001122752.2(SERPINI1):c.1035T>C (p.Asn345=) rs1044875919
NM_001122752.2(SERPINI1):c.1039G>T (p.Glu347Ter) rs1560020073
NM_001122752.2(SERPINI1):c.1046C>T (p.Ser349Leu)
NM_001122752.2(SERPINI1):c.1062C>A (p.Val354=)
NM_001122752.2(SERPINI1):c.1066+13A>G
NM_001122752.2(SERPINI1):c.1066+19T>C
NM_001122752.2(SERPINI1):c.1067-11C>T
NM_001122752.2(SERPINI1):c.1067-14T>C
NM_001122752.2(SERPINI1):c.1067-18T>G
NM_001122752.2(SERPINI1):c.1067-20A>G
NM_001122752.2(SERPINI1):c.1067-4G>A rs1414777080
NM_001122752.2(SERPINI1):c.1067-6C>A
NM_001122752.2(SERPINI1):c.1067-6C>T rs759360650
NM_001122752.2(SERPINI1):c.1067-7A>G
NM_001122752.2(SERPINI1):c.106C>T (p.Arg36Cys) rs61735306
NM_001122752.2(SERPINI1):c.1071G>A (p.Met357Ile) rs1168773849
NM_001122752.2(SERPINI1):c.1071G>C (p.Met357Ile) rs1168773849
NM_001122752.2(SERPINI1):c.1097T>C (p.Leu366Pro)
NM_001122752.2(SERPINI1):c.109C>T (p.Leu37Phe) rs1727416167
NM_001122752.2(SERPINI1):c.10C>T (p.Leu4Phe) rs1483914626
NM_001122752.2(SERPINI1):c.1102C>A (p.Pro368Thr)
NM_001122752.2(SERPINI1):c.1135C>T (p.Leu379Phe)
NM_001122752.2(SERPINI1):c.1139T>C (p.Ile380Thr) rs1560020646
NM_001122752.2(SERPINI1):c.1141A>C (p.Arg381=)
NM_001122752.2(SERPINI1):c.1156+13T>G
NM_001122752.2(SERPINI1):c.1157-10A>G
NM_001122752.2(SERPINI1):c.1157-18A>T
NM_001122752.2(SERPINI1):c.1157-4A>G rs2108576458
NM_001122752.2(SERPINI1):c.1157G>A (p.Gly386Asp)
NM_001122752.2(SERPINI1):c.1159A>G (p.Thr387Ala)
NM_001122752.2(SERPINI1):c.1162A>C (p.Ile388Leu) rs1712477543
NM_001122752.2(SERPINI1):c.1167A>G (p.Leu389=)
NM_001122752.2(SERPINI1):c.1173G>C (p.Met391Ile) rs1370761997
NM_001122752.2(SERPINI1):c.1174G>A (p.Gly392Arg) rs121909054
NM_001122752.2(SERPINI1):c.1174G>C (p.Gly392Arg) rs121909054
NM_001122752.2(SERPINI1):c.1175G>A (p.Gly392Glu) rs121909053
NM_001122752.2(SERPINI1):c.1176A>C (p.Gly392=)
NM_001122752.2(SERPINI1):c.1176A>T (p.Gly392=) rs775874977
NM_001122752.2(SERPINI1):c.1178G>A (p.Arg393Gln)
NM_001122752.2(SERPINI1):c.1183A>C (p.Met395Leu)
NM_001122752.2(SERPINI1):c.1184T>C (p.Met395Thr) rs761969364
NM_001122752.2(SERPINI1):c.1202A>G (p.Asn401Ser) rs2108576523
NM_001122752.2(SERPINI1):c.1221C>T (p.Phe407=) rs149238028
NM_001122752.2(SERPINI1):c.1225G>C (p.Glu409Gln) rs777674608
NM_001122752.2(SERPINI1):c.122G>A (p.Gly41Asp)
NM_001122752.2(SERPINI1):c.1231dup (p.Ter411LeuextTer?) rs2108576541
NM_001122752.2(SERPINI1):c.128A>T (p.Asp43Val)
NM_001122752.2(SERPINI1):c.132A>G (p.Glu44=)
NM_001122752.2(SERPINI1):c.137T>C (p.Ile46Thr) rs2108556293
NM_001122752.2(SERPINI1):c.140T>C (p.Leu47Pro)
NM_001122752.2(SERPINI1):c.145T>C (p.Ser49Pro) rs121909051
NM_001122752.2(SERPINI1):c.14G>T (p.Gly5Val)
NM_001122752.2(SERPINI1):c.152T>C (p.Leu51Ser) rs2108556315
NM_001122752.2(SERPINI1):c.154A>C (p.Ser52Arg) rs1577418477
NM_001122752.2(SERPINI1):c.158T>C (p.Ile53Thr)
NM_001122752.2(SERPINI1):c.161C>T (p.Ala54Val) rs769948709
NM_001122752.2(SERPINI1):c.173G>A (p.Gly58Glu)
NM_001122752.2(SERPINI1):c.175A>G (p.Met59Val) rs1727418833
NM_001122752.2(SERPINI1):c.189G>A (p.Gly63=)
NM_001122752.2(SERPINI1):c.200C>A (p.Ser67Tyr) rs1577418542
NM_001122752.2(SERPINI1):c.203C>A (p.Thr68Asn) rs1577418551
NM_001122752.2(SERPINI1):c.217C>G (p.Arg73Gly) rs369596299
NM_001122752.2(SERPINI1):c.219C>T (p.Arg73=)
NM_001122752.2(SERPINI1):c.220C>G (p.His74Asp) rs1445299347
NM_001122752.2(SERPINI1):c.223T>G (p.Ser75Ala)
NM_001122752.2(SERPINI1):c.228G>A (p.Met76Ile)
NM_001122752.2(SERPINI1):c.236A>G (p.Asp79Gly)
NM_001122752.2(SERPINI1):c.239G>A (p.Ser80Asn)
NM_001122752.2(SERPINI1):c.240C>G (p.Ser80Arg) rs2108556439
NM_001122752.2(SERPINI1):c.250+11T>C
NM_001122752.2(SERPINI1):c.250+9G>A rs1218012905
NM_001122752.2(SERPINI1):c.251-1G>C
NM_001122752.2(SERPINI1):c.251-7C>T rs751958524
NM_001122752.2(SERPINI1):c.260T>C (p.Phe87Ser)
NM_001122752.2(SERPINI1):c.268T>C (p.Leu90=)
NM_001122752.2(SERPINI1):c.287T>C (p.Met96Thr)
NM_001122752.2(SERPINI1):c.28C>T (p.Leu10=)
NM_001122752.2(SERPINI1):c.293C>T (p.Thr98Ile)
NM_001122752.2(SERPINI1):c.297T>C (p.Ala99=) rs61761891
NM_001122752.2(SERPINI1):c.303G>A (p.Glu101=)
NM_001122752.2(SERPINI1):c.311A>T (p.Tyr104Phe) rs1727464670
NM_001122752.2(SERPINI1):c.312T>C (p.Tyr104=)
NM_001122752.2(SERPINI1):c.313G>A (p.Val105Met)
NM_001122752.2(SERPINI1):c.316A>G (p.Met106Val) rs1727465258
NM_001122752.2(SERPINI1):c.31G>A (p.Val11Ile) rs2108556179
NM_001122752.2(SERPINI1):c.329A>G (p.Asn110Ser)
NM_001122752.2(SERPINI1):c.32T>C (p.Val11Ala)
NM_001122752.2(SERPINI1):c.336G>C (p.Leu112Phe) rs2108557115
NM_001122752.2(SERPINI1):c.340G>T (p.Val114Leu) rs61735308
NM_001122752.2(SERPINI1):c.350G>A (p.Gly117Glu) rs1727467568
NM_001122752.2(SERPINI1):c.352T>C (p.Phe118Leu)
NM_001122752.2(SERPINI1):c.357T>C (p.His119=)
NM_001122752.2(SERPINI1):c.360C>T (p.Val120=)
NM_001122752.2(SERPINI1):c.364G>A (p.Glu122Lys)
NM_001122752.2(SERPINI1):c.367G>A (p.Glu123Lys)
NM_001122752.2(SERPINI1):c.372T>C (p.Phe124=) rs2108557153
NM_001122752.2(SERPINI1):c.381G>A (p.Met127Ile)
NM_001122752.2(SERPINI1):c.38A>G (p.Gln13Arg)
NM_001122752.2(SERPINI1):c.402A>G (p.Ala134=) rs2108557185
NM_001122752.2(SERPINI1):c.410A>G (p.Asn137Ser) rs886058168
NM_001122752.2(SERPINI1):c.41G>A (p.Ser14Asn)
NM_001122752.2(SERPINI1):c.425_428del (p.Ser142fs)
NM_001122752.2(SERPINI1):c.427C>T (p.Gln143Ter)
NM_001122752.2(SERPINI1):c.43A>G (p.Met15Val) rs1727411590
NM_001122752.2(SERPINI1):c.441G>T (p.Val147=) rs1577419314
NM_001122752.2(SERPINI1):c.446A>C (p.Asn149Thr)
NM_001122752.2(SERPINI1):c.449A>T (p.Tyr150Phe) rs567043099
NM_001122752.2(SERPINI1):c.453C>A (p.Ile151=)
NM_001122752.2(SERPINI1):c.456T>G (p.Asn152Lys) rs759200368
NM_001122752.2(SERPINI1):c.462G>A (p.Trp154Ter) rs1727473660
NM_001122752.2(SERPINI1):c.467A>T (p.Glu156Val) rs2108557247
NM_001122752.2(SERPINI1):c.474C>A (p.Asn158Lys)
NM_001122752.2(SERPINI1):c.47C>T (p.Ala16Val) rs1329426448
NM_001122752.2(SERPINI1):c.481+13G>A
NM_001122752.2(SERPINI1):c.481+17C>T
NM_001122752.2(SERPINI1):c.481+8A>G
NM_001122752.2(SERPINI1):c.482-10dup rs772199277
NM_001122752.2(SERPINI1):c.482-6A>G
NM_001122752.2(SERPINI1):c.482A>T (p.Asn161Ile) rs1553774731
NM_001122752.2(SERPINI1):c.487G>A (p.Val163Met)
NM_001122752.2(SERPINI1):c.493G>A (p.Asp165Asn) rs1453020878
NM_001122752.2(SERPINI1):c.496T>C (p.Leu166=) rs1727566141
NM_001122752.2(SERPINI1):c.4G>T (p.Ala2Ser) rs1727409437
NM_001122752.2(SERPINI1):c.502T>A (p.Ser168Thr)
NM_001122752.2(SERPINI1):c.50_51inv (p.Thr17Met)
NM_001122752.2(SERPINI1):c.521C>T (p.Ala174Val) rs1307589619
NM_001122752.2(SERPINI1):c.524C>T (p.Ala175Val) rs1727567949
NM_001122752.2(SERPINI1):c.530A>C (p.Tyr177Ser)
NM_001122752.2(SERPINI1):c.531T>C (p.Tyr177=)
NM_001122752.2(SERPINI1):c.53G>A (p.Gly18Glu)
NM_001122752.2(SERPINI1):c.53G>C (p.Gly18Ala) rs577994777
NM_001122752.2(SERPINI1):c.542T>C (p.Ile181Thr)
NM_001122752.2(SERPINI1):c.543T>G (p.Ile181Met)
NM_001122752.2(SERPINI1):c.547G>A (p.Ala183Thr)
NM_001122752.2(SERPINI1):c.54G>A (p.Gly18=)
NM_001122752.2(SERPINI1):c.552C>A (p.Val184=) rs1577420587
NM_001122752.2(SERPINI1):c.554A>G (p.Tyr185Cys)
NM_001122752.2(SERPINI1):c.55G>A (p.Ala19Thr) rs1344969234
NM_001122752.2(SERPINI1):c.566A>G (p.Asn189Ser) rs566381455
NM_001122752.2(SERPINI1):c.56C>T (p.Ala19Val)
NM_001122752.2(SERPINI1):c.573G>A (p.Lys191=) rs1553774750
NM_001122752.2(SERPINI1):c.576G>C (p.Ser192=)
NM_001122752.2(SERPINI1):c.57C>T (p.Ala19=)
NM_001122752.2(SERPINI1):c.585G>A (p.Arg195=) rs976025763
NM_001122752.2(SERPINI1):c.586C>T (p.Pro196Ser) rs1443427135
NM_001122752.2(SERPINI1):c.58A>G (p.Thr20Ala)
NM_001122752.2(SERPINI1):c.5C>T (p.Ala2Val)
NM_001122752.2(SERPINI1):c.602C>G (p.Thr201Ser) rs778816229
NM_001122752.2(SERPINI1):c.60T>C (p.Thr20=)
NM_001122752.2(SERPINI1):c.629G>A (p.Ser210Asn)
NM_001122752.2(SERPINI1):c.629G>T (p.Ser210Ile) rs1296179457
NM_001122752.2(SERPINI1):c.62_66dup (p.Glu23fs) rs1727413504
NM_001122752.2(SERPINI1):c.646A>G (p.Met216Val)
NM_001122752.2(SERPINI1):c.648G>A (p.Met216Ile)
NM_001122752.2(SERPINI1):c.654T>C (p.Tyr218=)
NM_001122752.2(SERPINI1):c.663A>C (p.Gly221=)
NM_001122752.2(SERPINI1):c.664G>A (p.Glu222Lys)
NM_001122752.2(SERPINI1):c.674A>G (p.Tyr225Cys) rs1727575153
NM_001122752.2(SERPINI1):c.676+10T>C
NM_001122752.2(SERPINI1):c.676+14dup
NM_001122752.2(SERPINI1):c.676+8A>C
NM_001122752.2(SERPINI1):c.676+8del
NM_001122752.2(SERPINI1):c.676+9T>C
NM_001122752.2(SERPINI1):c.681A>G (p.Glu227=) rs1560010596
NM_001122752.2(SERPINI1):c.690T>C (p.Asp230=)
NM_001122752.2(SERPINI1):c.69G>C (p.Glu23Asp)
NM_001122752.2(SERPINI1):c.700G>C (p.Glu234Gln)
NM_001122752.2(SERPINI1):c.710G>T (p.Gly237Val)
NM_001122752.2(SERPINI1):c.726A>G (p.Leu242=)
NM_001122752.2(SERPINI1):c.731T>C (p.Ile244Thr) rs2108559866
NM_001122752.2(SERPINI1):c.748G>A (p.Glu250Lys)
NM_001122752.2(SERPINI1):c.74C>T (p.Ala25Val)
NM_001122752.2(SERPINI1):c.751A>G (p.Ile251Val) rs1553774954
NM_001122752.2(SERPINI1):c.754A>G (p.Ser252Gly)
NM_001122752.2(SERPINI1):c.760A>C (p.Met254Leu) rs1553774956
NM_001122752.2(SERPINI1):c.770T>C (p.Leu257Pro) rs1466251791
NM_001122752.2(SERPINI1):c.777A>G (p.Arg259=)
NM_001122752.2(SERPINI1):c.787C>T (p.Pro263Ser) rs2108559919
NM_001122752.2(SERPINI1):c.788C>T (p.Pro263Leu)
NM_001122752.2(SERPINI1):c.799C>G (p.Leu267Val)
NM_001122752.2(SERPINI1):c.809_835dup (p.Glu278_Trp279insLeuValLysAlaGlnLeuValGluGlu)
NM_001122752.2(SERPINI1):c.818C>T (p.Ala273Val) rs2108559943
NM_001122752.2(SERPINI1):c.829G>A (p.Glu277Lys) rs2108559953
NM_001122752.2(SERPINI1):c.838G>T (p.Ala280Ser)
NM_001122752.2(SERPINI1):c.839C>A (p.Ala280Glu)
NM_001122752.2(SERPINI1):c.843C>G (p.Asn281Lys) rs1553774967
NM_001122752.2(SERPINI1):c.844T>G (p.Ser282Ala)
NM_001122752.2(SERPINI1):c.846T>C (p.Ser282=)
NM_001122752.2(SERPINI1):c.84C>T (p.Asp28=) rs2108556255
NM_001122752.2(SERPINI1):c.853A>C (p.Lys285Gln)
NM_001122752.2(SERPINI1):c.854A>G (p.Lys285Arg) rs772141992
NM_001122752.2(SERPINI1):c.860A>T (p.Lys287Ile)
NM_001122752.2(SERPINI1):c.863T>C (p.Val288Ala)
NM_001122752.2(SERPINI1):c.867A>G (p.Glu289=)
NM_001122752.2(SERPINI1):c.874C>A (p.Leu292Met)
NM_001122752.2(SERPINI1):c.876G>T (p.Leu292=) rs2108559999
NM_001122752.2(SERPINI1):c.879C>T (p.Pro293=)
NM_001122752.2(SERPINI1):c.881+14G>A
NM_001122752.2(SERPINI1):c.881+15T>G rs1214620302
NM_001122752.2(SERPINI1):c.881+20C>T
NM_001122752.2(SERPINI1):c.882-3C>T
NM_001122752.2(SERPINI1):c.882-4C>G
NM_001122752.2(SERPINI1):c.882-9G>A
NM_001122752.2(SERPINI1):c.88T>G (p.Ser30Ala)
NM_001122752.2(SERPINI1):c.892G>A (p.Glu298Lys) rs2108567236
NM_001122752.2(SERPINI1):c.892G>C (p.Glu298Gln)
NM_001122752.2(SERPINI1):c.898G>A (p.Glu300Lys) rs1711680491
NM_001122752.2(SERPINI1):c.904G>A (p.Asp302Asn) rs2108567247
NM_001122752.2(SERPINI1):c.910A>G (p.Lys304Glu)
NM_001122752.2(SERPINI1):c.914A>C (p.Asp305Ala) rs756818970
NM_001122752.2(SERPINI1):c.929T>G (p.Leu310Arg)
NM_001122752.2(SERPINI1):c.949A>G (p.Ile317Val)
NM_001122752.2(SERPINI1):c.957T>C (p.Asp319=) rs1711682457
NM_001122752.2(SERPINI1):c.959C>G (p.Ala320Gly) rs886058169
NM_001122752.2(SERPINI1):c.95A>G (p.Asn32Ser) rs1172732406
NM_001122752.2(SERPINI1):c.963T>A (p.Asn321Lys) rs1711682663
NM_001122752.2(SERPINI1):c.971G>T (p.Gly324Val)
NM_001122752.2(SERPINI1):c.972C>A (p.Gly324=) rs554583291
NM_001122752.2(SERPINI1):c.974T>G (p.Leu325Arg)
NM_001122752.2(SERPINI1):c.975C>G (p.Leu325=) rs2108567299
NM_001122752.2(SERPINI1):c.976_977delinsCT (p.Ser326Leu) rs2108567301
NM_001122752.2(SERPINI1):c.979+17A>C
NM_001122752.2(SERPINI1):c.979+19T>C
NM_001122752.2(SERPINI1):c.979+4A>C
NM_001122752.2(SERPINI1):c.980-9T>C
NM_001122752.2(SERPINI1):c.980A>T (p.Asp327Val)
NM_001122752.2(SERPINI1):c.982A>C (p.Asn328His)
NM_001122752.2(SERPINI1):c.982A>G (p.Asn328Asp)

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