Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.106033526_106033545delinsTCCCTAGAAAGAGAATACTCCA2449828471SERPINA7c.1203_1222delinsGAGTATTCTCTTTCTAGGGA (p.Arg401=)
c.1233_1252delinsGAGTATTCTCTTTCTAGGGA (p.Arg411=)
c.*148_*167delinsGAGTATTCTCTTTCTAGGGA (n.*148_*167delinsGAGTATTCTCTTTCTAGGGA)
Xg.106033528_106033546delCA333351188SERPINA7c.1203_1221del (p.Ser402LysfsTer3)
c.1233_1251del (p.Ser412LysfsTer3)
c.*148_*166del (n.*148_*166del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.106033532G>ACA517953215SERPINA7c.1216C>T (p.Leu406=)
c.1246C>T (p.Leu416=)
c.*161C>T (n.*161C>T)
 gnomAD v4 COSMIC
Xg.106033532G>CCA413873959SERPINA7c.1216C>G (p.Leu406Val)
c.1246C>G (p.Leu416Val)
c.*161C>G (n.*161C>G)
Xg.106033532G>TCA413873961SERPINA7c.1216C>A (p.Leu406Ile)
c.1246C>A (p.Leu416Ile)
c.*161C>A (n.*161C>A)
Xg.106033533A>CCA413873963SERPINA7c.1215T>G (p.Phe405Leu)
c.1245T>G (p.Phe415Leu)
c.*160T>G (n.*160T>G)
Xg.106033533A>GCA517953216SERPINA7c.1215T>C (p.Phe405=)
c.1245T>C (p.Phe415=)
c.*160T>C (n.*160T>C)
 gnomAD v4
Xg.106033533A>TCA413873965SERPINA7c.1215T>A (p.Phe405Leu)
c.1245T>A (p.Phe415Leu)
c.*160T>A (n.*160T>A)
Xg.106033534A>CCA413873968SERPINA7c.1214T>G (p.Phe405Cys)
c.1244T>G (p.Phe415Cys)
c.*159T>G (n.*159T>G)
Xg.106033534A>GCA413873970SERPINA7c.1214T>C (p.Phe405Ser)
c.1244T>C (p.Phe415Ser)
c.*159T>C (n.*159T>C)
Xg.106033534A>TCA413873972SERPINA7c.1214T>A (p.Phe405Tyr)
c.1244T>A (p.Phe415Tyr)
c.*159T>A (n.*159T>A)
Xg.106033535A>CCA413873975SERPINA7c.1213T>G (p.Phe405Val)
c.1243T>G (p.Phe415Val)
c.*158T>G (n.*158T>G)
Xg.106033535A>GCA413873980SERPINA7c.1213T>C (p.Phe405Leu)
c.1243T>C (p.Phe415Leu)
c.*158T>C (n.*158T>C)
Xg.106033535A>TCA413873977SERPINA7c.1213T>A (p.Phe405Ile)
c.1243T>A (p.Phe415Ile)
c.*158T>A (n.*158T>A)
Xg.106033538_106033539delCA2695235160SERPINA7c.1212_1213del (p.Phe405SerfsTer19)
c.1242_1243del (p.Phe415SerfsTer19)
c.*157_*158del (n.*157_*158del)
Xg.106033536G>ACA517953219SERPINA7c.1212C>T (p.Leu404=)
c.1242C>T (p.Leu414=)
c.*157C>T (n.*157C>T)
 gnomAD v4
Xg.106033536G>CCA517953218SERPINA7c.1212C>G (p.Leu404=)
c.1242C>G (p.Leu414=)
c.*157C>G (n.*157C>G)
 gnomAD v4
Xg.106033536G>TCA517953217SERPINA7c.1212C>A (p.Leu404=)
c.1242C>A (p.Leu414=)
c.*157C>A (n.*157C>A)
Xg.106033537A=CA2449828475SERPINA7c.1211T= (p.Leu404=)
c.1241T= (p.Leu414=)
c.*156T= (n.*156T=)
Xg.106033537A>CCA413873983SERPINA7c.1211T>G (p.Leu404Arg)
c.1241T>G (p.Leu414Arg)
c.*156T>G (n.*156T>G)
Xg.106033537A>GCA413873985SERPINA7c.1211T>C (p.Leu404Pro)
c.1241T>C (p.Leu414Pro)
c.*156T>C (n.*156T>C)
Xg.106033537A>TCA413873987SERPINA7c.1211T>A (p.Leu404His)
c.1241T>A (p.Leu414His)
c.*156T>A (n.*156T>A)
 dbSNP gnomAD v3 gnomAD v4
Xg.106033538G>ACA413873990SERPINA7c.1210C>T (p.Leu404Phe)
c.1240C>T (p.Leu414Phe)
c.*155C>T (n.*155C>T)
Xg.106033538G>CCA413873991SERPINA7c.1210C>G (p.Leu404Val)
c.1240C>G (p.Leu414Val)
c.*155C>G (n.*155C>G)
Xg.106033538G>TCA413873993SERPINA7c.1210C>A (p.Leu404Ile)
c.1240C>A (p.Leu414Ile)
c.*155C>A (n.*155C>A)
Xg.106033539A>CCA413873996SERPINA7c.1209T>G (p.Ile403Met)
c.1239T>G (p.Ile413Met)
c.*154T>G (n.*154T>G)
Xg.106033539A>GCA517953220SERPINA7c.1209T>C (p.Ile403=)
c.1239T>C (p.Ile413=)
c.*154T>C (n.*154T>C)
Xg.106033539A>TCA517953221SERPINA7c.1209T>A (p.Ile403=)
c.1239T>A (p.Ile413=)
c.*154T>A (n.*154T>A)
Xg.106033540A>CCA413873999SERPINA7c.1208T>G (p.Ile403Ser)
c.1238T>G (p.Ile413Ser)
c.*153T>G (n.*153T>G)
Xg.106033540A>GCA413874002SERPINA7c.1208T>C (p.Ile403Thr)
c.1238T>C (p.Ile413Thr)
c.*153T>C (n.*153T>C)
 gnomAD v4
Xg.106033540A>TCA413874004SERPINA7c.1208T>A (p.Ile403Asn)
c.1238T>A (p.Ile413Asn)
c.*153T>A (n.*153T>A)
Xg.106033541T>ACA413874010SERPINA7c.1207A>T (p.Ile403Phe)
c.1237A>T (p.Ile413Phe)
c.*152A>T (n.*152A>T)
Xg.106033541T>CCA10481631SERPINA7c.1207A>G (p.Ile403Val)
c.1237A>G (p.Ile413Val)
c.*152A>G (n.*152A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.106033541T>GCA413874007SERPINA7c.1207A>C (p.Ile403Leu)
c.1237A>C (p.Ile413Leu)
c.*152A>C (n.*152A>C)
Xg.106033541T=CA2449828476SERPINA7c.1207A= (p.Ile403=)
c.1237A= (p.Ile413=)
c.*152A= (n.*152A=)
Xg.106033542A>CCA413874013SERPINA7c.1206T>G (p.Ser402Arg)
c.1236T>G (p.Ser412Arg)
c.*151T>G (n.*151T>G)
Xg.106033542A>GCA517953222SERPINA7c.1206T>C (p.Ser402=)
c.1236T>C (p.Ser412=)
c.*151T>C (n.*151T>C)
Xg.106033542A>TCA413874014SERPINA7c.1206T>A (p.Ser402Arg)
c.1236T>A (p.Ser412Arg)
c.*151T>A (n.*151T>A)
Xg.106033543C>ACA413874018SERPINA7c.1205G>T (p.Ser402Ile)
c.1235G>T (p.Ser412Ile)
c.*150G>T (n.*150G>T)
Xg.106033543C>GCA413874020SERPINA7c.1205G>C (p.Ser402Thr)
c.1235G>C (p.Ser412Thr)
c.*150G>C (n.*150G>C)
Xg.106033543C>TCA413874022SERPINA7c.1205G>A (p.Ser402Asn)
c.1235G>A (p.Ser412Asn)
c.*150G>A (n.*150G>A)
 gnomAD v4
Xg.106033544T>ACA413874025SERPINA7c.1204A>T (p.Ser402Cys)
c.1234A>T (p.Ser412Cys)
c.*149A>T (n.*149A>T)
Xg.106033544T>CCA413874026SERPINA7c.1204A>G (p.Ser402Gly)
c.1234A>G (p.Ser412Gly)
c.*149A>G (n.*149A>G)
Xg.106033544T>GCA413874028SERPINA7c.1204A>C (p.Ser402Arg)
c.1234A>C (p.Ser412Arg)
c.*149A>C (n.*149A>C)
 gnomAD v4
Xg.106033545C>ACA413874031SERPINA7c.1203G>T (p.Arg401Ser)
c.1233G>T (p.Arg411Ser)
c.*148G>T (n.*148G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.106033545C=CA2449828477SERPINA7c.1203G= (p.Arg401=)
c.1233G= (p.Arg411=)
c.*148G= (n.*148G=)
Xg.106033545C>GCA413874033SERPINA7c.1203G>C (p.Arg401Ser)
c.1233G>C (p.Arg411Ser)
c.*148G>C (n.*148G>C)
Xg.106033545C>TCA517953223SERPINA7c.1203G>A (p.Arg401=)
c.1233G>A (p.Arg411=)
c.*148G>A (n.*148G>A)
 dbSNP
Xg.106033546C>ACA413874036SERPINA7c.1202G>T (p.Arg401Met)
c.1232G>T (p.Arg411Met)
c.*147G>T (n.*147G>T)
Xg.106033546C>GCA413874037SERPINA7c.1202G>C (p.Arg401Thr)
c.1232G>C (p.Arg411Thr)
c.*147G>C (n.*147G>C)
Xg.106033546C>TCA413874039SERPINA7c.1202G>A (p.Arg401Lys)
c.1232G>A (p.Arg411Lys)
c.*147G>A (n.*147G>A)
 gnomAD v4
Xg.106033547T>ACA413874041SERPINA7c.1201A>T (p.Arg401Trp)
c.1231A>T (p.Arg411Trp)
c.*146A>T (n.*146A>T)
Xg.106033547T>CCA413874044SERPINA7c.1201A>G (p.Arg401Gly)
c.1231A>G (p.Arg411Gly)
c.*146A>G (n.*146A>G)
 gnomAD v4
Xg.106033547T>GCA517953224SERPINA7c.1201A>C (p.Arg401=)
c.1231A>C (p.Arg411=)
c.*146A>C (n.*146A>C)
Xg.106033548T>ACA517953225SERPINA7c.1200A>T (p.Thr400=)
c.1230A>T (p.Thr410=)
c.*145A>T (n.*145A>T)
Xg.106033548T>CCA517953226SERPINA7c.1200A>G (p.Thr400=)
c.1230A>G (p.Thr410=)
c.*145A>G (n.*145A>G)
Xg.106033548T>GCA517953227SERPINA7c.1200A>C (p.Thr400=)
c.1230A>C (p.Thr410=)
c.*145A>C (n.*145A>C)
Xg.106033549G>ACA413874047SERPINA7c.1199C>T (p.Thr400Ile)
c.1229C>T (p.Thr410Ile)
c.*144C>T (n.*144C>T)
Xg.106033549G>CCA413874051SERPINA7c.1199C>G (p.Thr400Arg)
c.1229C>G (p.Thr410Arg)
c.*144C>G (n.*144C>G)
 COSMIC
Xg.106033549G>TCA413874049SERPINA7c.1199C>A (p.Thr400Lys)
c.1229C>A (p.Thr410Lys)
c.*144C>A (n.*144C>A)
Xg.106033550T>ACA413874054SERPINA7c.1198A>T (p.Thr400Ser)
c.1228A>T (p.Thr410Ser)
c.*143A>T (n.*143A>T)
Xg.106033550T>CCA413874056SERPINA7c.1198A>G (p.Thr400Ala)
c.1228A>G (p.Thr410Ala)
c.*143A>G (n.*143A>G)
 dbSNP gnomAD v2 gnomAD v4
Xg.106033550T>GCA413874058SERPINA7c.1198A>C (p.Thr400Pro)
c.1228A>C (p.Thr410Pro)
c.*143A>C (n.*143A>C)
Xg.106033550T=CA2449828478SERPINA7c.1198A= (p.Thr400=)
c.1228A= (p.Thr410=)
c.*143A= (n.*143A=)
Xg.106033551G>ACA517953228SERPINA7c.1197C>T (p.Ser399=)
c.1227C>T (p.Ser409=)
c.*142C>T (n.*142C>T)
Xg.106033551G>CCA413874062SERPINA7c.1197C>G (p.Ser399Arg)
c.1227C>G (p.Ser409Arg)
c.*142C>G (n.*142C>G)
Xg.106033551G>TCA413874063SERPINA7c.1197C>A (p.Ser399Arg)
c.1227C>A (p.Ser409Arg)
c.*142C>A (n.*142C>A)
Xg.106033552C>ACA413874066SERPINA7c.1196G>T (p.Ser399Ile)
c.1226G>T (p.Ser409Ile)
c.*141G>T (n.*141G>T)
Xg.106033552C>GCA413874068SERPINA7c.1196G>C (p.Ser399Thr)
c.1226G>C (p.Ser409Thr)
c.*141G>C (n.*141G>C)
Xg.106033552C>TCA413874071SERPINA7c.1196G>A (p.Ser399Asn)
c.1226G>A (p.Ser409Asn)
c.*141G>A (n.*141G>A)
Xg.106033553T>ACA413874074SERPINA7c.1195A>T (p.Ser399Cys)
c.1225A>T (p.Ser409Cys)
c.*140A>T (n.*140A>T)
Xg.106033553T>CCA413874075SERPINA7c.1195A>G (p.Ser399Gly)
c.1225A>G (p.Ser409Gly)
c.*140A>G (n.*140A>G)
Xg.106033553T>GCA413874076SERPINA7c.1195A>C (p.Ser399Arg)
c.1225A>C (p.Ser409Arg)
c.*140A>C (n.*140A>C)
 dbSNP gnomAD v2 gnomAD v4
Xg.106033553T=CA2449828479SERPINA7c.1195A= (p.Ser399=)
c.1225A= (p.Ser409=)
c.*140A= (n.*140A=)
Xg.106033554T>ACA413874079SERPINA7c.1194A>T (p.Arg398Ser)
c.1224A>T (p.Arg408Ser)
c.*139A>T (n.*139A>T)
Xg.106033554T>CCA517953229SERPINA7c.1194A>G (p.Arg398=)
c.1224A>G (p.Arg408=)
c.*139A>G (n.*139A>G)
Xg.106033554T>GCA413874081SERPINA7c.1194A>C (p.Arg398Ser)
c.1224A>C (p.Arg408Ser)
c.*139A>C (n.*139A>C)
 gnomAD v4
Xg.106033555C>ACA413874084SERPINA7c.1193G>T (p.Arg398Ile)
c.1223G>T (p.Arg408Ile)
c.*138G>T (n.*138G>T)
Xg.106033555C>GCA413874086SERPINA7c.1193G>C (p.Arg398Thr)
c.1223G>C (p.Arg408Thr)
c.*138G>C (n.*138G>C)
Xg.106033555C>TCA413874088SERPINA7c.1193G>A (p.Arg398Lys)
c.1223G>A (p.Arg408Lys)
c.*138G>A (n.*138G>A)
Xg.106033556T>ACA413874090SERPINA7c.1192A>T (p.Arg398Ter)
c.1222A>T (p.Arg408Ter)
c.*137A>T (n.*137A>T)
Xg.106033556T>CCA413874093SERPINA7c.1192A>G (p.Arg398Gly)
c.1222A>G (p.Arg408Gly)
c.*137A>G (n.*137A>G)
 gnomAD v4
Xg.106033556T>GCA517953230SERPINA7c.1192A>C (p.Arg398=)
c.1222A>C (p.Arg408=)
c.*137A>C (n.*137A>C)
Xg.106033557C>ACA413874096SERPINA7c.1191G>T (p.Glu397Asp)
c.1221G>T (p.Glu407Asp)
c.*136G>T (n.*136G>T)
 dbSNP
Xg.106033557C=CA2449828480SERPINA7c.1191G= (p.Glu397=)
c.1221G= (p.Glu407=)
c.*136G= (n.*136G=)
Xg.106033557C>GCA413874098SERPINA7c.1191G>C (p.Glu397Asp)
c.1221G>C (p.Glu407Asp)
c.*136G>C (n.*136G>C)
Xg.106033557C>TCA517953231SERPINA7c.1191G>A (p.Glu397=)
c.1221G>A (p.Glu407=)
c.*136G>A (n.*136G>A)
Xg.106033558T>ACA413874101SERPINA7c.1190A>T (p.Glu397Val)
c.1220A>T (p.Glu407Val)
c.*135A>T (n.*135A>T)
Xg.106033558T>CCA413874103SERPINA7c.1190A>G (p.Glu397Gly)
c.1220A>G (p.Glu407Gly)
c.*135A>G (n.*135A>G)
 COSMIC
Xg.106033558T>GCA413874105SERPINA7c.1190A>C (p.Glu397Ala)
c.1220A>C (p.Glu407Ala)
c.*135A>C (n.*135A>C)
Xg.106033559C>ACA413874109SERPINA7c.1189G>T (p.Glu397Ter)
c.1219G>T (p.Glu407Ter)
c.*134G>T (n.*134G>T)
Xg.106033559C>GCA413874111SERPINA7c.1189G>C (p.Glu397Gln)
c.1219G>C (p.Glu407Gln)
c.*134G>C (n.*134G>C)
Xg.106033559C>TCA413874113SERPINA7c.1189G>A (p.Glu397Lys)
c.1219G>A (p.Glu407Lys)
c.*134G>A (n.*134G>A)
Xg.106033560C>ACA16608237SERPINA7c.1188G>T (p.Leu396Phe)
c.1218G>T (p.Leu406Phe)
c.*133G>T (n.*133G>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.106033560C=CA2449828481SERPINA7c.1188G= (p.Leu396=)
c.1218G= (p.Leu406=)
c.*133G= (n.*133G=)
Xg.106033560C>GCA413874116SERPINA7c.1188G>C (p.Leu396Phe)
c.1218G>C (p.Leu406Phe)
c.*133G>C (n.*133G>C)
Xg.106033560C>TCA517953232SERPINA7c.1188G>A (p.Leu396=)
c.1218G>A (p.Leu406=)
c.*133G>A (n.*133G>A)
 dbSNP
Xg.106033561A>CCA413874121SERPINA7c.1187T>G (p.Leu396Trp)
c.1217T>G (p.Leu406Trp)
c.*132T>G (n.*132T>G)
 COSMIC
Xg.106033561A>GCA413874123SERPINA7c.1187T>C (p.Leu396Ser)
c.1217T>C (p.Leu406Ser)
c.*132T>C (n.*132T>C)
Xg.106033561A>TCA413874125SERPINA7c.1187T>A (p.Leu396Ter)
c.1217T>A (p.Leu406Ter)
c.*132T>A (n.*132T>A)
Xg.106033562A=CA2449828482SERPINA7c.1186T= (p.Leu396=)
c.1216T= (p.Leu406=)
c.*131T= (n.*131T=)
Xg.106033562A>CCA413874129SERPINA7c.1186T>G (p.Leu396Val)
c.1216T>G (p.Leu406Val)
c.*131T>G (n.*131T>G)
Xg.106033562A>GCA333351189SERPINA7c.1186T>C (p.Leu396=)
c.1216T>C (p.Leu406=)
c.*131T>C (n.*131T>C)
 dbSNP
Xg.106033562A>TCA413874132SERPINA7c.1186T>A (p.Leu396Met)
c.1216T>A (p.Leu406Met)
c.*131T>A (n.*131T>A)
Xg.106033563A>CCA413874135SERPINA7c.1185T>G (p.Ile395Met)
c.1215T>G (p.Ile405Met)
c.*130T>G (n.*130T>G)
Xg.106033563A>GCA517953234SERPINA7c.1185T>C (p.Ile395=)
c.1215T>C (p.Ile405=)
c.*130T>C (n.*130T>C)
Xg.106033563A>TCA517953233SERPINA7c.1185T>A (p.Ile395=)
c.1215T>A (p.Ile405=)
c.*130T>A (n.*130T>A)
 gnomAD v4
Xg.106033564A>CCA413874138SERPINA7c.1184T>G (p.Ile395Ser)
c.1214T>G (p.Ile405Ser)
c.*129T>G (n.*129T>G)
Xg.106033564A>GCA413874140SERPINA7c.1184T>C (p.Ile395Thr)
c.1214T>C (p.Ile405Thr)
c.*129T>C (n.*129T>C)
Xg.106033564A>TCA413874142SERPINA7c.1184T>A (p.Ile395Asn)
c.1214T>A (p.Ile405Asn)
c.*129T>A (n.*129T>A)
Xg.106033565T>ACA413874145SERPINA7c.1183A>T (p.Ile395Phe)
c.1213A>T (p.Ile405Phe)
c.*128A>T (n.*128A>T)
Xg.106033565T>CCA10481632SERPINA7c.1183A>G (p.Ile395Val)
c.1213A>G (p.Ile405Val)
c.*128A>G (n.*128A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.106033565T>GCA413874149SERPINA7c.1183A>C (p.Ile395Leu)
c.1213A>C (p.Ile405Leu)
c.*128A>C (n.*128A>C)
Xg.106033565T=CA2449828483SERPINA7c.1183A= (p.Ile395=)
c.1213A= (p.Ile405=)
c.*128A= (n.*128A=)
Xg.106033566C>ACA413874151SERPINA7c.1182G>T (p.Leu394Phe)
c.1212G>T (p.Leu404Phe)
c.*127G>T (n.*127G>T)
Xg.106033566C>GCA413874153SERPINA7c.1182G>C (p.Leu394Phe)
c.1212G>C (p.Leu404Phe)
c.*127G>C (n.*127G>C)
Xg.106033566C>TCA517953235SERPINA7c.1182G>A (p.Leu394=)
c.1212G>A (p.Leu404=)
c.*127G>A (n.*127G>A)
 COSMIC
Xg.106033567A>CCA413874157SERPINA7c.1181T>G (p.Leu394Trp)
c.1211T>G (p.Leu404Trp)
c.*126T>G (n.*126T>G)
Xg.106033567A>GCA413874161SERPINA7c.1181T>C (p.Leu394Ser)
c.1211T>C (p.Leu404Ser)
c.*126T>C (n.*126T>C)
Xg.106033567A>TCA413874159SERPINA7c.1181T>A (p.Leu394Ter)
c.1211T>A (p.Leu404Ter)
c.*126T>A (n.*126T>A)
Xg.106033568A=CA2449828484SERPINA7c.1180T= (p.Leu394=)
c.1210T= (p.Leu404=)
c.*125T= (n.*125T=)
Xg.106033568A>CCA413874164SERPINA7c.1180T>G (p.Leu394Val)
c.1210T>G (p.Leu404Val)
c.*125T>G (n.*125T>G)
Xg.106033568A>GCA517953236SERPINA7c.1180T>C (p.Leu394=)
c.1210T>C (p.Leu404=)
c.*125T>C (n.*125T>C)
 dbSNP gnomAD v3 gnomAD v4
Xg.106033568A>TCA413874166SERPINA7c.1180T>A (p.Leu394Met)
c.1210T>A (p.Leu404Met)
c.*125T>A (n.*125T>A)
Xg.106033569C>ACA413874169SERPINA7c.1179G>T (p.Leu393Phe)
c.1209G>T (p.Leu403Phe)
c.*124G>T (n.*124G>T)
Xg.106033569C=CA2449828485SERPINA7c.1179G= (p.Leu393=)
c.1209G= (p.Leu403=)
c.*124G= (n.*124G=)
Xg.106033569C>GCA413874172SERPINA7c.1179G>C (p.Leu393Phe)
c.1209G>C (p.Leu403Phe)
c.*124G>C (n.*124G>C)
Xg.106033569C>TCA10481633SERPINA7c.1179G>A (p.Leu393=)
c.1209G>A (p.Leu403=)
c.*124G>A (n.*124G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.106033570A>CCA413874175SERPINA7c.1178T>G (p.Leu393Trp)
c.1208T>G (p.Leu403Trp)
c.*123T>G (n.*123T>G)
Xg.106033570A>GCA413874177SERPINA7c.1178T>C (p.Leu393Ser)
c.1208T>C (p.Leu403Ser)
c.*123T>C (n.*123T>C)
Xg.106033570A>TCA413874179SERPINA7c.1178T>A (p.Leu393Ter)
c.1208T>A (p.Leu403Ter)
c.*123T>A (n.*123T>A)
Xg.106033571A>CCA413874182SERPINA7c.1177T>G (p.Leu393Val)
c.1207T>G (p.Leu403Val)
c.*122T>G (n.*122T>G)
Xg.106033571A>GCA517953237SERPINA7c.1177T>C (p.Leu393=)
c.1207T>C (p.Leu403=)
c.*122T>C (n.*122T>C)
Xg.106033571A>TCA413874184SERPINA7c.1177T>A (p.Leu393Met)
c.1207T>A (p.Leu403Met)
c.*122T>A (n.*122T>A)
Xg.106033572C>ACA413874187SERPINA7c.1176G>T (p.Met392Ile)
c.1206G>T (p.Met402Ile)
c.*121G>T (n.*121G>T)
Xg.106033572C>GCA413874189SERPINA7c.1176G>C (p.Met392Ile)
c.1206G>C (p.Met402Ile)
c.*121G>C (n.*121G>C)
Xg.106033572C>TCA413874191SERPINA7c.1176G>A (p.Met392Ile)
c.1206G>A (p.Met402Ile)
c.*121G>A (n.*121G>A)
Xg.106033573A>CCA413874197SERPINA7c.1175T>G (p.Met392Arg)
c.1205T>G (p.Met402Arg)
c.*120T>G (n.*120T>G)
Xg.106033573A>GCA413874193SERPINA7c.1175T>C (p.Met392Thr)
c.1205T>C (p.Met402Thr)
c.*120T>C (n.*120T>C)
 gnomAD v4
Xg.106033573A>TCA413874195SERPINA7c.1175T>A (p.Met392Lys)
c.1205T>A (p.Met402Lys)
c.*120T>A (n.*120T>A)
 gnomAD v4
Xg.106033574T>ACA413874198SERPINA7c.1174A>T (p.Met392Leu)
c.1204A>T (p.Met402Leu)
c.*119A>T (n.*119A>T)
Xg.106033574T>CCA10481634SERPINA7c.1174A>G (p.Met392Val)
c.1204A>G (p.Met402Val)
c.*119A>G (n.*119A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.106033574T>GCA413874202SERPINA7c.1174A>C (p.Met392Leu)
c.1204A>C (p.Met402Leu)
c.*119A>C (n.*119A>C)
Xg.106033574T=CA2449828486SERPINA7c.1174A= (p.Met392=)
c.1204A= (p.Met402=)
c.*119A= (n.*119A=)
Xg.106033575G>ACA517953238SERPINA7c.1173C>T (p.Phe391=)
c.1203C>T (p.Phe401=)
c.*118C>T (n.*118C>T)
Xg.106033575G>CCA413874203SERPINA7c.1173C>G (p.Phe391Leu)
c.1203C>G (p.Phe401Leu)
c.*118C>G (n.*118C>G)
Xg.106033575G>TCA413874205SERPINA7c.1173C>A (p.Phe391Leu)
c.1203C>A (p.Phe401Leu)
c.*118C>A (n.*118C>A)
Xg.106033576A>CCA413874207SERPINA7c.1172T>G (p.Phe391Cys)
c.1202T>G (p.Phe401Cys)
c.*117T>G (n.*117T>G)
Xg.106033576A>GCA413874209SERPINA7c.1172T>C (p.Phe391Ser)
c.1202T>C (p.Phe401Ser)
c.*117T>C (n.*117T>C)
 gnomAD v4
Xg.106033576A>TCA413874211SERPINA7c.1172T>A (p.Phe391Tyr)
c.1202T>A (p.Phe401Tyr)
c.*117T>A (n.*117T>A)
Xg.106033577A=CA2449828487SERPINA7c.1171T= (p.Phe391=)
c.1201T= (p.Phe401=)
c.*116T= (n.*116T=)
Xg.106033577A>CCA413874214SERPINA7c.1171T>G (p.Phe391Val)
c.1201T>G (p.Phe401Val)
c.*116T>G (n.*116T>G)
Xg.106033577A>GCA333351190SERPINA7c.1171T>C (p.Phe391Leu)
c.1201T>C (p.Phe401Leu)
c.*116T>C (n.*116T>C)
 dbSNP
Xg.106033577A>TCA413874217SERPINA7c.1171T>A (p.Phe391Ile)
c.1201T>A (p.Phe401Ile)
c.*116T>A (n.*116T>A)
Xg.106033578A>CCA517953241SERPINA7c.1170T>G (p.Ser390=)
c.1200T>G (p.Ser400=)
c.*115T>G (n.*115T>G)
Xg.106033578A>GCA517953240SERPINA7c.1170T>C (p.Ser390=)
c.1200T>C (p.Ser400=)
c.*115T>C (n.*115T>C)
Xg.106033578A>TCA517953239SERPINA7c.1170T>A (p.Ser390=)
c.1200T>A (p.Ser400=)
c.*115T>A (n.*115T>A)
Xg.106033579G>ACA413874223SERPINA7c.1169C>T (p.Ser390Phe)
c.1199C>T (p.Ser400Phe)
c.*114C>T (n.*114C>T)
Xg.106033579G>CCA413874224SERPINA7c.1169C>G (p.Ser390Cys)
c.1199C>G (p.Ser400Cys)
c.*114C>G (n.*114C>G)
Xg.106033579G>TCA413874220SERPINA7c.1169C>A (p.Ser390Tyr)
c.1199C>A (p.Ser400Tyr)
c.*114C>A (n.*114C>A)
Xg.106033580A=CA2449828488SERPINA7c.1168T= (p.Ser390=)
c.1198T= (p.Ser400=)
c.*113T= (n.*113T=)
Xg.106033580A>CCA413874227SERPINA7c.1168T>G (p.Ser390Ala)
c.1198T>G (p.Ser400Ala)
c.*113T>G (n.*113T>G)
Xg.106033580A>GCA413874230SERPINA7c.1168T>C (p.Ser390Pro)
c.1198T>C (p.Ser400Pro)
c.*113T>C (n.*113T>C)
 dbSNP gnomAD v2
Xg.106033580A>TCA413874231SERPINA7c.1168T>A (p.Ser390Thr)
c.1198T>A (p.Ser400Thr)
c.*113T>A (n.*113T>A)
 dbSNP gnomAD v4
Xg.106033581T>ACA413874235SERPINA7c.1167A>T (p.Arg389Ser)
c.1197A>T (p.Arg399Ser)
c.*112A>T (n.*112A>T)
 gnomAD v4
Xg.106033581T>CCA333351191SERPINA7c.1167A>G (p.Arg389=)
c.1197A>G (p.Arg399=)
c.*112A>G (n.*112A>G)
 dbSNP gnomAD v4
Xg.106033581T>GCA413874237SERPINA7c.1167A>C (p.Arg389Ser)
c.1197A>C (p.Arg399Ser)
c.*112A>C (n.*112A>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.106033581T=CA2449828489SERPINA7c.1167A= (p.Arg389=)
c.1197A= (p.Arg399=)
c.*112A= (n.*112A=)
Xg.106033582C>ACA413874240SERPINA7c.1166G>T (p.Arg389Ile)
c.1196G>T (p.Arg399Ile)
c.*111G>T (n.*111G>T)
Xg.106033582C>GCA413874242SERPINA7c.1166G>C (p.Arg389Thr)
c.1196G>C (p.Arg399Thr)
c.*111G>C (n.*111G>C)
Xg.106033582C>TCA413874244SERPINA7c.1166G>A (p.Arg389Lys)
c.1196G>A (p.Arg399Lys)
c.*111G>A (n.*111G>A)
Xg.106033583T>ACA413874247SERPINA7c.1165A>T (p.Arg389Ter)
c.1195A>T (p.Arg399Ter)
c.*110A>T (n.*110A>T)
Xg.106033583T>CCA413874249SERPINA7c.1165A>G (p.Arg389Gly)
c.1195A>G (p.Arg399Gly)
c.*110A>G (n.*110A>G)
Xg.106033583T>GCA517953242SERPINA7c.1165A>C (p.Arg389=)
c.1195A>C (p.Arg399=)
c.*110A>C (n.*110A>C)
 gnomAD v4
Xg.106033584A=CA2449828490SERPINA7c.1164T= (p.Asp388=)
c.1194T= (p.Asp398=)
c.*109T= (n.*109T=)
Xg.106033584A>CCA413874251SERPINA7c.1164T>G (p.Asp388Glu)
c.1194T>G (p.Asp398Glu)
c.*109T>G (n.*109T>G)
Xg.106033584A>GCA517953243SERPINA7c.1164T>C (p.Asp388=)
c.1194T>C (p.Asp398=)
c.*109T>C (n.*109T>C)
 dbSNP gnomAD v3 gnomAD v4
Xg.106033584A>TCA413874254SERPINA7c.1164T>A (p.Asp388Glu)
c.1194T>A (p.Asp398Glu)
c.*109T>A (n.*109T>A)
Xg.106033585T>ACA413874260SERPINA7c.1163A>T (p.Asp388Val)
c.1193A>T (p.Asp398Val)
c.*108A>T (n.*108A>T)
 dbSNP
Xg.106033585T>CCA10481635SERPINA7c.1163A>G (p.Asp388Gly)
c.1193A>G (p.Asp398Gly)
c.*108A>G (n.*108A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.106033585T>GCA413874258SERPINA7c.1163A>C (p.Asp388Ala)
c.1193A>C (p.Asp398Ala)
c.*108A>C (n.*108A>C)
Xg.106033585T=CA2449828491SERPINA7c.1163A= (p.Asp388=)
c.1193A= (p.Asp398=)
c.*108A= (n.*108A=)
Xg.106033586C>ACA413874263SERPINA7c.1162G>T (p.Asp388Tyr)
c.1192G>T (p.Asp398Tyr)
c.*107G>T (n.*107G>T)
 gnomAD v4
Xg.106033586C>GCA413874266SERPINA7c.1162G>C (p.Asp388His)
c.1192G>C (p.Asp398His)
c.*107G>C (n.*107G>C)
Xg.106033586C>TCA413874268SERPINA7c.1162G>A (p.Asp388Asn)
c.1192G>A (p.Asp398Asn)
c.*107G>A (n.*107G>A)
Xg.106033586_106033587delCA2505032943SERPINA7c.1161_1162del (p.Asp388Ter)
c.1191_1192del (p.Asp398Ter)
c.*106_*107del (n.*106_*107del)
Xg.106033587A=CA2449828492SERPINA7c.1161T= (p.Ile387=)
c.1191T= (p.Ile397=)
c.*106T= (n.*106T=)
Xg.106033587A>CCA333351192SERPINA7c.1161T>G (p.Ile387Met)
c.1191T>G (p.Ile397Met)
c.*106T>G (n.*106T>G)
 dbSNP gnomAD v3 gnomAD v4
Xg.106033587A>GCA517953244SERPINA7c.1161T>C (p.Ile387=)
c.1191T>C (p.Ile397=)
c.*106T>C (n.*106T>C)
Xg.106033587A>TCA517953245SERPINA7c.1161T>A (p.Ile387=)
c.1191T>A (p.Ile397=)
c.*106T>A (n.*106T>A)
Xg.106033588A>CCA413874273SERPINA7c.1160T>G (p.Ile387Ser)
c.1190T>G (p.Ile397Ser)
c.*105T>G (n.*105T>G)
Xg.106033588A>GCA413874275SERPINA7c.1160T>C (p.Ile387Thr)
c.1190T>C (p.Ile397Thr)
c.*105T>C (n.*105T>C)
 dbSNP gnomAD v4
Xg.106033588A>TCA413874277SERPINA7c.1160T>A (p.Ile387Asn)
c.1190T>A (p.Ile397Asn)
c.*105T>A (n.*105T>A)
Xg.106033589T>ACA413874280SERPINA7c.1159A>T (p.Ile387Phe)
c.1189A>T (p.Ile397Phe)
c.*104A>T (n.*104A>T)
Xg.106033589T>CCA413874283SERPINA7c.1159A>G (p.Ile387Val)
c.1189A>G (p.Ile397Val)
c.*104A>G (n.*104A>G)
Xg.106033589T>GCA413874285SERPINA7c.1159A>C (p.Ile387Leu)
c.1189A>C (p.Ile397Leu)
c.*104A>C (n.*104A>C)
Xg.106033590T>ACA413874288SERPINA7c.1158A>T (p.Gln386His)
c.1188A>T (p.Gln396His)
c.*103A>T (n.*103A>T)
Xg.106033590T>CCA517953246SERPINA7c.1158A>G (p.Gln386=)
c.1188A>G (p.Gln396=)
c.*103A>G (n.*103A>G)
Xg.106033590T>GCA413874290SERPINA7c.1158A>C (p.Gln386His)
c.1188A>C (p.Gln396His)
c.*103A>C (n.*103A>C)
Xg.106033591T>ACA413874298SERPINA7c.1157A>T (p.Gln386Leu)
c.1187A>T (p.Gln396Leu)
c.*102A>T (n.*102A>T)
Xg.106033591T>CCA413874295SERPINA7c.1157A>G (p.Gln386Arg)
c.1187A>G (p.Gln396Arg)
c.*102A>G (n.*102A>G)
Xg.106033591T>GCA413874293SERPINA7c.1157A>C (p.Gln386Pro)
c.1187A>C (p.Gln396Pro)
c.*102A>C (n.*102A>C)
Xg.106033592G>ACA413874301SERPINA7c.1156C>T (p.Gln386Ter)
c.1186C>T (p.Gln396Ter)
c.*101C>T (n.*101C>T)
Xg.106033592G>CCA413874305SERPINA7c.1156C>G (p.Gln386Glu)
c.1186C>G (p.Gln396Glu)
c.*101C>G (n.*101C>G)
 gnomAD v4
Xg.106033592G>TCA413874303SERPINA7c.1156C>A (p.Gln386Lys)
c.1186C>A (p.Gln396Lys)
c.*101C>A (n.*101C>A)
Xg.106033593G>ACA10481636SERPINA7c.1155C>T (p.Ile385=)
c.1185C>T (p.Ile395=)
c.*100C>T (n.*100C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.106033593G>CCA413874309SERPINA7c.1155C>G (p.Ile385Met)
c.1185C>G (p.Ile395Met)
c.*100C>G (n.*100C>G)
 gnomAD v4
Xg.106033593G=CA2449828493SERPINA7c.1155C= (p.Ile385=)
c.1185C= (p.Ile395=)
c.*100C= (n.*100C=)
Xg.106033593G>TCA517953247SERPINA7c.1155C>A (p.Ile385=)
c.1185C>A (p.Ile395=)
c.*100C>A (n.*100C>A)
Xg.106033594A>CCA413874313SERPINA7c.1154T>G (p.Ile385Ser)
c.1184T>G (p.Ile395Ser)
c.*99T>G (n.*99T>G)
Xg.106033594A>GCA413874315SERPINA7c.1154T>C (p.Ile385Thr)
c.1184T>C (p.Ile395Thr)
c.*99T>C (n.*99T>C)
 gnomAD v4
Xg.106033594A>TCA413874317SERPINA7c.1154T>A (p.Ile385Asn)
c.1184T>A (p.Ile395Asn)
c.*99T>A (n.*99T>A)
Xg.106033595T>ACA413874320SERPINA7c.1153A>T (p.Ile385Phe)
c.1183A>T (p.Ile395Phe)
c.*98A>T (n.*98A>T)
Xg.106033595T>CCA413874322SERPINA7c.1153A>G (p.Ile385Val)
c.1183A>G (p.Ile395Val)
c.*98A>G (n.*98A>G)
Xg.106033595T>GCA413874324SERPINA7c.1153A>C (p.Ile385Leu)
c.1183A>C (p.Ile395Leu)
c.*98A>C (n.*98A>C)
Xg.106033596A>CCA413874327SERPINA7c.1152T>G (p.Ile384Met)
c.1182T>G (p.Ile394Met)
c.*97T>G (n.*97T>G)
Xg.106033596A>GCA517953248SERPINA7c.1152T>C (p.Ile384=)
c.1182T>C (p.Ile394=)
c.*97T>C (n.*97T>C)
 gnomAD v4
Xg.106033596A>TCA517953249SERPINA7c.1152T>A (p.Ile384=)
c.1182T>A (p.Ile394=)
c.*97T>A (n.*97T>A)
Xg.106033597A>CCA413874330SERPINA7c.1151T>G (p.Ile384Ser)
c.1181T>G (p.Ile394Ser)
c.*96T>G (n.*96T>G)
Xg.106033597A>GCA413874332SERPINA7c.1151T>C (p.Ile384Thr)
c.1181T>C (p.Ile394Thr)
c.*96T>C (n.*96T>C)
 gnomAD v4
Xg.106033597A>TCA413874334SERPINA7c.1151T>A (p.Ile384Asn)
c.1181T>A (p.Ile394Asn)
c.*96T>A (n.*96T>A)
Xg.106033598T>ACA413874341SERPINA7c.1150A>T (p.Ile384Phe)
c.1180A>T (p.Ile394Phe)
c.*95A>T (n.*95A>T)
 COSMIC
Xg.106033598T>CCA10481637SERPINA7c.1150A>G (p.Ile384Val)
c.1180A>G (p.Ile394Val)
c.*95A>G (n.*95A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.106033598T>GCA413874339SERPINA7c.1150A>C (p.Ile384Leu)
c.1180A>C (p.Ile394Leu)
c.*95A>C (n.*95A>C)
Xg.106033598T=CA2449828494SERPINA7c.1150A= (p.Ile384=)
c.1180A= (p.Ile394=)
c.*95A= (n.*95A=)
Xg.106033599A>CCA517953250SERPINA7c.1149T>G (p.Pro383=)
c.1179T>G (p.Pro393=)
c.*94T>G (n.*94T>G)
Xg.106033599A>GCA517953251SERPINA7c.1149T>C (p.Pro383=)
c.1179T>C (p.Pro393=)
c.*94T>C (n.*94T>C)
Xg.106033599A>TCA517953252SERPINA7c.1149T>A (p.Pro383=)
c.1179T>A (p.Pro393=)
c.*94T>A (n.*94T>A)
Xg.106033600G>ACA120674SERPINA7c.1148C>T (p.Pro383Leu)
c.1178C>T (p.Pro393Leu)
c.*93C>T (n.*93C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.106033600G>CCA413874345SERPINA7c.1148C>G (p.Pro383Arg)
c.1178C>G (p.Pro393Arg)
c.*93C>G (n.*93C>G)
Xg.106033600G=CA2449828495SERPINA7c.1148C= (p.Pro383=)
c.1178C= (p.Pro393=)
c.*93C= (n.*93C=)
Xg.106033600G>TCA413874348SERPINA7c.1148C>A (p.Pro383His)
c.1178C>A (p.Pro393His)
c.*93C>A (n.*93C>A)
Xg.106033601G>ACA413874351SERPINA7c.1147C>T (p.Pro383Ser)
c.1177C>T (p.Pro393Ser)
c.*92C>T (n.*92C>T)
 dbSNP
Xg.106033601G>CCA413874359SERPINA7c.1147C>G (p.Pro383Ala)
c.1177C>G (p.Pro393Ala)
c.*92C>G (n.*92C>G)
Xg.106033601G=CA2449828496SERPINA7c.1147C= (p.Pro383=)
c.1177C= (p.Pro393=)
c.*92C= (n.*92C=)
Xg.106033601G>TCA413874361SERPINA7c.1147C>A (p.Pro383Thr)
c.1177C>A (p.Pro393Thr)
c.*92C>A (n.*92C>A)
 COSMIC
Xg.106033602G>ACA517953253SERPINA7c.1146C>T (p.His382=)
c.1176C>T (p.His392=)
c.*91C>T (n.*91C>T)
Xg.106033602G>CCA413874363SERPINA7c.1146C>G (p.His382Gln)
c.1176C>G (p.His392Gln)
c.*91C>G (n.*91C>G)
Xg.106033602G>TCA413874366SERPINA7c.1146C>A (p.His382Gln)
c.1176C>A (p.His392Gln)
c.*91C>A (n.*91C>A)
Xg.106033603T>ACA413874370SERPINA7c.1145A>T (p.His382Leu)
c.1175A>T (p.His392Leu)
c.*90A>T (n.*90A>T)
Xg.106033603T>CCA413874372SERPINA7c.1145A>G (p.His382Arg)
c.1175A>G (p.His392Arg)
c.*90A>G (n.*90A>G)
Xg.106033603T>GCA413874374SERPINA7c.1145A>C (p.His382Pro)
c.1175A>C (p.His392Pro)
c.*90A>C (n.*90A>C)
Xg.106033604G>ACA413874380SERPINA7c.1144C>T (p.His382Tyr)
c.1174C>T (p.His392Tyr)
c.*89C>T (n.*89C>T)
Xg.106033604G>CCA413874378SERPINA7c.1144C>G (p.His382Asp)
c.1174C>G (p.His392Asp)
c.*89C>G (n.*89C>G)
Xg.106033604G>TCA413874377SERPINA7c.1144C>A (p.His382Asn)
c.1174C>A (p.His392Asn)
c.*89C>A (n.*89C>A)
Xg.106033605T>ACA517953255SERPINA7c.1143A>T (p.Leu381=)
c.1173A>T (p.Leu391=)
c.*88A>T (n.*88A>T)
Xg.106033605T>CCA517953256SERPINA7c.1143A>G (p.Leu381=)
c.1173A>G (p.Leu391=)
c.*88A>G (n.*88A>G)
Xg.106033605T>GCA517953257SERPINA7c.1143A>C (p.Leu381=)
c.1173A>C (p.Leu391=)
c.*88A>C (n.*88A>C)
Xg.106033606A>CCA413874382SERPINA7c.1142T>G (p.Leu381Arg)
c.1172T>G (p.Leu391Arg)
c.*87T>G (n.*87T>G)
Xg.106033606A>GCA413874384SERPINA7c.1142T>C (p.Leu381Pro)
c.1172T>C (p.Leu391Pro)
c.*87T>C (n.*87T>C)
Xg.106033606A>TCA413874386SERPINA7c.1142T>A (p.Leu381Gln)
c.1172T>A (p.Leu391Gln)
c.*87T>A (n.*87T>A)
Xg.106033607G>ACA333351193SERPINA7c.1141C>T (p.Leu381=)
c.1171C>T (p.Leu391=)
c.*86C>T (n.*86C>T)
 dbSNP gnomAD v4
Xg.106033607G>CCA413874390SERPINA7c.1141C>G (p.Leu381Val)
c.1171C>G (p.Leu391Val)
c.*86C>G (n.*86C>G)
Xg.106033607G=CA2449828497SERPINA7c.1141C= (p.Leu381=)
c.1171C= (p.Leu391=)
c.*86C= (n.*86C=)
Xg.106033607G>TCA413874392SERPINA7c.1141C>A (p.Leu381Ile)
c.1171C>A (p.Leu391Ile)
c.*86C>A (n.*86C>A)
Xg.106033608G>ACA517953258SERPINA7c.1140C>T (p.Phe380=)
c.1170C>T (p.Phe390=)
c.*85C>T (n.*85C>T)
Xg.106033608G>CCA413874397SERPINA7c.1140C>G (p.Phe380Leu)
c.1170C>G (p.Phe390Leu)
c.*85C>G (n.*85C>G)
Xg.106033608G=CA2449828498SERPINA7c.1140C= (p.Phe380=)
c.1170C= (p.Phe390=)
c.*85C= (n.*85C=)
Xg.106033608G>TCA413874395SERPINA7c.1140C>A (p.Phe380Leu)
c.1170C>A (p.Phe390Leu)
c.*85C>A (n.*85C>A)
 dbSNP gnomAD v3 gnomAD v4
Xg.106033609A=CA2449828499SERPINA7c.1139T= (p.Phe380=)
c.1169T= (p.Phe390=)
c.*84T= (n.*84T=)
Xg.106033609A>CCA413874401SERPINA7c.1139T>G (p.Phe380Cys)
c.1169T>G (p.Phe390Cys)
c.*84T>G (n.*84T>G)
Xg.106033609A>GCA10481638SERPINA7c.1139T>C (p.Phe380Ser)
c.1169T>C (p.Phe390Ser)
c.*84T>C (n.*84T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.106033609A>TCA413874405SERPINA7c.1139T>A (p.Phe380Tyr)
c.1169T>A (p.Phe390Tyr)
c.*84T>A (n.*84T>A)
Xg.106033611delCA645611135SERPINA7c.1139del (p.Phe380SerfsTer15)
c.1169del (p.Phe390SerfsTer15)
c.*84del (n.*84del)
 COSMIC
Xg.106033610A>CCA413874407SERPINA7c.1138T>G (p.Phe380Val)
c.*83T>G (n.*83T>G)
c.1168T>G (p.Phe390Val)
Xg.106033610A>GCA413874409SERPINA7c.1138T>C (p.Phe380Leu)
c.*83T>C (n.*83T>C)
c.1168T>C (p.Phe390Leu)
Xg.106033610A>TCA413874412SERPINA7c.1138T>A (p.Phe380Ile)
c.*83T>A (n.*83T>A)
c.1168T>A (p.Phe390Ile)
Xg.106033611A>CCA517953261SERPINA7c.1137T>G (p.Thr379=)
c.*82T>G (n.*82T>G)
c.1167T>G (p.Thr389=)
Xg.106033611A>GCA517953263SERPINA7c.1137T>C (p.Thr379=)
c.*82T>C (n.*82T>C)
c.1167T>C (p.Thr389=)
Xg.106033611A>TCA517953262SERPINA7c.1137T>A (p.Thr379=)
c.*82T>A (n.*82T>A)
c.1167T>A (p.Thr389=)
Xg.106033612G>ACA413874414SERPINA7c.1136C>T (p.Thr379Ile)
c.*81C>T (n.*81C>T)
c.1166C>T (p.Thr389Ile)
Xg.106033612G>CCA413874418SERPINA7c.1136C>G (p.Thr379Ser)
c.*81C>G (n.*81C>G)
c.1166C>G (p.Thr389Ser)
Xg.106033612G>TCA413874416SERPINA7c.1136C>A (p.Thr379Asn)
c.*81C>A (n.*81C>A)
c.1166C>A (p.Thr389Asn)
Xg.106033613T>ACA413874422SERPINA7c.1135A>T (p.Thr379Ser)
c.*80A>T (n.*80A>T)
c.1165A>T (p.Thr389Ser)
 gnomAD v4
Xg.106033613T>CCA413874424SERPINA7c.1135A>G (p.Thr379Ala)
c.*80A>G (n.*80A>G)
c.1165A>G (p.Thr389Ala)
Xg.106033613T>GCA413874426SERPINA7c.1135A>C (p.Thr379Pro)
c.*80A>C (n.*80A>C)
c.1165A>C (p.Thr389Pro)
 dbSNP
Xg.106033613T=CA2449828500SERPINA7c.1135A= (p.Thr379=)
c.*80A= (n.*80A=)
c.1165A= (p.Thr389=)
Xg.106033614G>ACA517953264SERPINA7c.1134C>T (p.Asn378=)
c.*79C>T (n.*79C>T)
c.1164C>T (p.Asn388=)
 dbSNP gnomAD v2 gnomAD v4
Xg.106033614G>CCA413874429SERPINA7c.1134C>G (p.Asn378Lys)
c.*79C>G (n.*79C>G)
c.1164C>G (p.Asn388Lys)
Xg.106033614G=CA2449828501SERPINA7c.1134C= (p.Asn378=)
c.*79C= (n.*79C=)
c.1164C= (p.Asn388=)
Xg.106033614G>TCA413874432SERPINA7c.1134C>A (p.Asn378Lys)
c.*79C>A (n.*79C>A)
c.1164C>A (p.Asn388Lys)
Xg.106033615T>ACA413874435SERPINA7c.1133A>T (p.Asn378Ile)
c.*78A>T (n.*78A>T)
c.1163A>T (p.Asn388Ile)
Xg.106033615T>CCA413874437SERPINA7c.1133A>G (p.Asn378Ser)
c.*78A>G (n.*78A>G)
c.1163A>G (p.Asn388Ser)
Xg.106033615T>GCA413874438SERPINA7c.1133A>C (p.Asn378Thr)
c.*78A>C (n.*78A>C)
c.1163A>C (p.Asn388Thr)
Xg.106033616T>ACA10481639SERPINA7c.1132A>T (p.Asn378Tyr)
c.*77A>T (n.*77A>T)
c.1162A>T (p.Asn388Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.106033616T>CCA413874443SERPINA7c.1132A>G (p.Asn378Asp)
c.*77A>G (n.*77A>G)
c.1162A>G (p.Asn388Asp)
Xg.106033616T>GCA333351194SERPINA7c.1132A>C (p.Asn378His)
c.*77A>C (n.*77A>C)
c.1162A>C (p.Asn388His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.106033616T=CA2449828502SERPINA7c.1132A= (p.Asn378=)
c.*77A= (n.*77A=)
c.1162A= (p.Asn388=)
Xg.106033617T>ACA413874449SERPINA7c.1131A>T (p.Glu377Asp)
c.*76A>T (n.*76A>T)
c.1161A>T (p.Glu387Asp)
Xg.106033617T>CCA517953267SERPINA7c.1131A>G (p.Glu377=)
c.*76A>G (n.*76A>G)
c.1161A>G (p.Glu387=)
Xg.106033617T>GCA413874446SERPINA7c.1131A>C (p.Glu377Asp)
c.*76A>C (n.*76A>C)
c.1161A>C (p.Glu387Asp)
Xg.106033618T>ACA413874452SERPINA7c.1130A>T (p.Glu377Val)
c.*75A>T (n.*75A>T)
c.1160A>T (p.Glu387Val)
Xg.106033618T>CCA413874454SERPINA7c.1130A>G (p.Glu377Gly)
c.*75A>G (n.*75A>G)
c.1160A>G (p.Glu387Gly)
Xg.106033618T>GCA413874455SERPINA7c.1130A>C (p.Glu377Ala)
c.*75A>C (n.*75A>C)
c.1160A>C (p.Glu387Ala)
Xg.106033619C>ACA413874458SERPINA7c.1129G>T (p.Glu377Ter)
c.*74G>T (n.*74G>T)
c.1159G>T (p.Glu387Ter)
Xg.106033619C=CA2449828503SERPINA7c.1129G= (p.Glu377=)
c.*74G= (n.*74G=)
c.1159G= (p.Glu387=)
Xg.106033619C>GCA413874461SERPINA7c.1129G>C (p.Glu377Gln)
c.*74G>C (n.*74G>C)
c.1159G>C (p.Glu387Gln)
Xg.106033619C>TCA333351195SERPINA7c.1129G>A (p.Glu377Lys)
c.*74G>A (n.*74G>A)
c.1159G>A (p.Glu387Lys)
 dbSNP
Xg.106033620A>CCA517953268SERPINA7c.1128T>G (p.Pro376=)
c.*73T>G (n.*73T>G)
c.1158T>G (p.Pro386=)
Xg.106033620A>GCA517953269SERPINA7c.1128T>C (p.Pro376=)
c.*73T>C (n.*73T>C)
c.1158T>C (p.Pro386=)
 gnomAD v4
Xg.106033620A>TCA517953270SERPINA7c.1128T>A (p.Pro376=)
c.*73T>A (n.*73T>A)
c.1158T>A (p.Pro386=)
 gnomAD v4
Xg.106033621G>ACA413874470SERPINA7c.1127C>T (p.Pro376Leu)
c.*72C>T (n.*72C>T)
c.1157C>T (p.Pro386Leu)
Xg.106033621G>CCA413874468SERPINA7c.1127C>G (p.Pro376Arg)
c.*72C>G (n.*72C>G)
c.1157C>G (p.Pro386Arg)
Xg.106033621G>TCA413874465SERPINA7c.1127C>A (p.Pro376His)
c.*72C>A (n.*72C>A)
c.1157C>A (p.Pro386His)
Xg.106033622G>ACA413874472SERPINA7c.1126C>T (p.Pro376Ser)
c.*71C>T (n.*71C>T)
c.1156C>T (p.Pro386Ser)
Xg.106033622G>CCA413874474SERPINA7c.1126C>G (p.Pro376Ala)
c.*71C>G (n.*71C>G)
c.1156C>G (p.Pro386Ala)
Xg.106033622G=CA2449828504SERPINA7c.1126C= (p.Pro376=)
c.*71C= (n.*71C=)
c.1156C= (p.Pro386=)
Xg.106033622G>TCA413874476SERPINA7c.1126C>A (p.Pro376Thr)
c.*71C>A (n.*71C>A)
c.1156C>A (p.Pro386Thr)
 dbSNP
Xg.106033623C>ACA413874479SERPINA7c.1125G>T (p.Gln375His)
c.*70G>T (n.*70G>T)
c.1155G>T (p.Gln385His)
Xg.106033623C=CA2449828505SERPINA7c.1125G= (p.Gln375=)
c.*70G= (n.*70G=)
c.1155G= (p.Gln385=)
Xg.106033623C>GCA413874480SERPINA7c.1125G>C (p.Gln375His)
c.*70G>C (n.*70G>C)
c.1155G>C (p.Gln385His)
Xg.106033623C>TCA10481640SERPINA7c.1125G>A (p.Gln375=)
c.*70G>A (n.*70G>A)
c.1155G>A (p.Gln385=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.106033624T>ACA413874484SERPINA7c.1124A>T (p.Gln375Leu)
c.*69A>T (n.*69A>T)
c.1154A>T (p.Gln385Leu)
Xg.106033624T>CCA413874488SERPINA7c.1124A>G (p.Gln375Arg)
c.*69A>G (n.*69A>G)
c.1154A>G (p.Gln385Arg)
 gnomAD v4
Xg.106033624T>GCA413874486SERPINA7c.1124A>C (p.Gln375Pro)
c.*69A>C (n.*69A>C)
c.1154A>C (p.Gln385Pro)
Xg.106033625G>ACA413874490SERPINA7c.1123C>T (p.Gln375Ter)
c.*68C>T (n.*68C>T)
c.1153C>T (p.Gln385Ter)
Xg.106033625G>CCA413874493SERPINA7c.1123C>G (p.Gln375Glu)
c.*68C>G (n.*68C>G)
c.1153C>G (p.Gln385Glu)
 gnomAD v4
Xg.106033625G=CA2449828506SERPINA7c.1123C= (p.Gln375=)
c.*68C= (n.*68C=)
c.1153C= (p.Gln385=)
Xg.106033625G>TCA413874495SERPINA7c.1123C>A (p.Gln375Lys)
c.*68C>A (n.*68C>A)
c.1153C>A (p.Gln385Lys)
 dbSNP gnomAD v2
Xg.106033626A=CA2449828507SERPINA7c.1122T= (p.Asp374=)
c.*67T= (n.*67T=)
c.1152T= (p.Asp384=)
Xg.106033626A>CCA413874498SERPINA7c.1122T>G (p.Asp374Glu)
c.*67T>G (n.*67T>G)
c.1152T>G (p.Asp384Glu)
Xg.106033626A>GCA517953271SERPINA7c.1122T>C (p.Asp374=)
c.*67T>C (n.*67T>C)
c.1152T>C (p.Asp384=)
 dbSNP
Xg.106033626A>TCA413874500SERPINA7c.1122T>A (p.Asp374Glu)
c.*67T>A (n.*67T>A)
c.1152T>A (p.Asp384Glu)
Xg.106033627T>ACA413874503SERPINA7c.1121A>T (p.Asp374Val)
c.*66A>T (n.*66A>T)
c.1151A>T (p.Asp384Val)
Xg.106033627T>CCA413874505SERPINA7c.1121A>G (p.Asp374Gly)
c.*66A>G (n.*66A>G)
c.1151A>G (p.Asp384Gly)
Xg.106033627T>GCA413874506SERPINA7c.1121A>C (p.Asp374Ala)
c.*66A>C (n.*66A>C)
c.1151A>C (p.Asp384Ala)
Xg.106033628C>ACA333351196SERPINA7c.1120G>T (p.Asp374Tyr)
c.*65G>T (n.*65G>T)
c.1150G>T (p.Asp384Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.106033628C=CA2449828508SERPINA7c.1120G= (p.Asp374=)
c.*65G= (n.*65G=)
c.1150G= (p.Asp384=)
Xg.106033628C>GCA413874509SERPINA7c.1120G>C (p.Asp374His)
c.*65G>C (n.*65G>C)
c.1150G>C (p.Asp384His)
Xg.106033628C>TCA10481641SERPINA7c.1120G>A (p.Asp374Asn)
c.*65G>A (n.*65G>A)
c.1150G>A (p.Asp384Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.106033629C>ACA517953272SERPINA7c.1119G>T (p.Ser373=)
c.*64G>T (n.*64G>T)
c.1149G>T (p.Ser383=)
 dbSNP gnomAD v2 gnomAD v4
Xg.106033629C=CA2449828509SERPINA7c.1119G= (p.Ser373=)
c.*64G= (n.*64G=)
c.1149G= (p.Ser383=)
Xg.106033629C>GCA517953273SERPINA7c.1119G>C (p.Ser373=)
c.*64G>C (n.*64G>C)
c.1149G>C (p.Ser383=)
Xg.106033629C>TCA517953274SERPINA7c.1119G>A (p.Ser373=)
c.*64G>A (n.*64G>A)
c.1149G>A (p.Ser383=)
 gnomAD v4
Xg.106033629_106033630insCTCA10481642SERPINA7c.1118_1119insAG (p.Asp374GlyfsTer22)
c.*63_*64insAG (n.*63_*64insAG)
c.1148_1149insAG (p.Asp384GlyfsTer22)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.106033630G>ACA10481643SERPINA7c.1118C>T (p.Ser373Leu)
c.*63C>T (n.*63C>T)
c.1148C>T (p.Ser383Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
Xg.106033630G>CCA10481645SERPINA7c.1118C>G (p.Ser373Trp)
c.*63C>G (n.*63C>G)
c.1148C>G (p.Ser383Trp)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.106033630G=CA2449828511SERPINA7c.1118C= (p.Ser373=)
c.*63C= (n.*63C=)
c.1148C= (p.Ser383=)
Xg.106033630G>TCA413874513SERPINA7c.1118C>A (p.Ser373Ter)
c.*63C>A (n.*63C>A)
c.1148C>A (p.Ser383Ter)
Xg.106033630_106033631delinsGACA2449828510SERPINA7c.1117_1118delinsTC (p.Ser373=)
c.*62_*63delinsTC (n.*62_*63delinsTC)
c.1147_1148delinsTC (p.Ser383=)
Xg.106033630_106033631delinsCTGCA2695235161SERPINA7c.1117_1118delinsCAG (p.Ser373GlnfsTer5)
c.*62_*63delinsCAG (n.*62_*63delinsCAG)
c.1147_1148delinsCAG (p.Ser383GlnfsTer5)
Xg.106033631A=CA2449828512SERPINA7c.1117T= (p.Ser373=)
c.*62T= (n.*62T=)
c.1147T= (p.Ser383=)
Xg.106033631A>CCA413874523SERPINA7c.1117T>G (p.Ser373Ala)
c.*62T>G (n.*62T>G)
c.1147T>G (p.Ser383Ala)
Xg.106033631A>GCA413874519SERPINA7c.1117T>C (p.Ser373Pro)
c.*62T>C (n.*62T>C)
c.1147T>C (p.Ser383Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.106033631A>TCA413874521SERPINA7c.1117T>A (p.Ser373Thr)
c.*62T>A (n.*62T>A)
c.1147T>A (p.Ser383Thr)
Xg.106033633delCA10481644SERPINA7c.1117del (p.Ser373ArgfsTer22)
c.*62del (n.*62del)
c.1147del (p.Ser383ArgfsTer22)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.106033632A>CCA517953275SERPINA7c.1116T>G (p.Leu372=)
c.*61T>G (n.*61T>G)
c.1146T>G (p.Leu382=)
Xg.106033632A>GCA517953276SERPINA7c.1116T>C (p.Leu372=)
c.*61T>C (n.*61T>C)
c.1146T>C (p.Leu382=)
Xg.106033632A>TCA517953277SERPINA7c.1116T>A (p.Leu372=)
c.*61T>A (n.*61T>A)
c.1146T>A (p.Leu382=)

Number of alleles fetched