Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)
Xg.106033633A=CA2449828513SERPINA7c.1115T= (p.Leu372=)
c.*60T= (n.*60T=)
c.1145T= (p.Leu382=)
Xg.106033633A>CCA10481646SERPINA7c.1115T>G (p.Leu372Arg)
c.*60T>G (n.*60T>G)
c.1145T>G (p.Leu382Arg)
 dbSNP ExAC
Xg.106033633A>GCA413874537SERPINA7c.1115T>C (p.Leu372Pro)
c.*60T>C (n.*60T>C)
c.1145T>C (p.Leu382Pro)
 gnomAD v4
Xg.106033633A>TCA413874541SERPINA7c.1115T>A (p.Leu372His)
c.*60T>A (n.*60T>A)
c.1145T>A (p.Leu382His)
Xg.106033633_106033634delinsAGCA2449828514SERPINA7c.1114_1115delinsCT (p.Leu372=)
c.*59_*60delinsCT (n.*59_*60delinsCT)
c.1144_1145delinsCT (p.Leu382=)
Xg.106033634delCA120671SERPINA7c.1114del (p.Leu372PhefsTer23)
c.*59del (n.*59del)
c.1144del (p.Leu382PhefsTer23)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.106033634G>ACA413874543SERPINA7c.1114C>T (p.Leu372Phe)
c.*59C>T (n.*59C>T)
c.1144C>T (p.Leu382Phe)
Xg.106033634G>CCA413874544SERPINA7c.1114C>G (p.Leu372Val)
c.*59C>G (n.*59C>G)
c.1144C>G (p.Leu382Val)
Xg.106033634G>TCA413874545SERPINA7c.1114C>A (p.Leu372Ile)
c.*59C>A (n.*59C>A)
c.1144C>A (p.Leu382Ile)
Xg.106033635T>ACA413874546SERPINA7c.1113A>T (p.Glu371Asp)
c.*58A>T (n.*58A>T)
c.1143A>T (p.Glu381Asp)
Xg.106033635T>CCA517953278SERPINA7c.1113A>G (p.Glu371=)
c.*58A>G (n.*58A>G)
c.1143A>G (p.Glu381=)
Xg.106033635T>GCA413874548SERPINA7c.1113A>C (p.Glu371Asp)
c.*58A>C (n.*58A>C)
c.1143A>C (p.Glu381Asp)
Xg.106033636T>ACA413874561SERPINA7c.1112A>T (p.Glu371Val)
c.*57A>T (n.*57A>T)
c.1142A>T (p.Glu381Val)
Xg.106033636T>CCA413874563SERPINA7c.1112A>G (p.Glu371Gly)
c.*57A>G (n.*57A>G)
c.1142A>G (p.Glu381Gly)
Xg.106033636T>GCA413874555SERPINA7c.1112A>C (p.Glu371Ala)
c.*57A>C (n.*57A>C)
c.1142A>C (p.Glu381Ala)
Xg.106033637C>ACA413874569SERPINA7c.1111G>T (p.Glu371Ter)
c.*56G>T (n.*56G>T)
c.1141G>T (p.Glu381Ter)
Xg.106033637C>GCA413874571SERPINA7c.1111G>C (p.Glu371Gln)
c.*56G>C (n.*56G>C)
c.1141G>C (p.Glu381Gln)
Xg.106033637C>TCA413874572SERPINA7c.1111G>A (p.Glu371Lys)
c.*56G>A (n.*56G>A)
c.1141G>A (p.Glu381Lys)
Xg.106033638A>CCA517953279SERPINA7c.1110T>G (p.Val370=)
c.*55T>G (n.*55T>G)
c.1140T>G (p.Val380=)
Xg.106033638A>GCA517953280SERPINA7c.1110T>C (p.Val370=)
c.*55T>C (n.*55T>C)
c.1140T>C (p.Val380=)
Xg.106033638A>TCA517953281SERPINA7c.1110T>A (p.Val370=)
c.*55T>A (n.*55T>A)
c.1140T>A (p.Val380=)
 gnomAD v4
Xg.106033639A>CCA413874575SERPINA7c.1109T>G (p.Val370Gly)
c.*54T>G (n.*54T>G)
c.1139T>G (p.Val380Gly)
Xg.106033639A>GCA413874577SERPINA7c.1109T>C (p.Val370Ala)
c.*54T>C (n.*54T>C)
c.1139T>C (p.Val380Ala)
Xg.106033639A>TCA413874584SERPINA7c.1109T>A (p.Val370Asp)
c.*54T>A (n.*54T>A)
c.1139T>A (p.Val380Asp)
Xg.106033640C>ACA413874585SERPINA7c.1108G>T (p.Val370Phe)
c.*53G>T (n.*53G>T)
c.1138G>T (p.Val380Phe)
 gnomAD v4 COSMIC
Xg.106033640C>GCA413874588SERPINA7c.1108G>C (p.Val370Leu)
c.*53G>C (n.*53G>C)
c.1138G>C (p.Val380Leu)
Xg.106033640C>TCA413874586SERPINA7c.1108G>A (p.Val370Ile)
c.*53G>A (n.*53G>A)
c.1138G>A (p.Val380Ile)
Xg.106033641T>ACA10481647SERPINA7c.1107A>T (p.Glu369Asp)
c.*52A>T (n.*52A>T)
c.1137A>T (p.Glu379Asp)
 dbSNP ExAC gnomAD v2
Xg.106033641T>CCA517953282SERPINA7c.1107A>G (p.Glu369=)
c.*52A>G (n.*52A>G)
c.1137A>G (p.Glu379=)
Xg.106033641T>GCA413874591SERPINA7c.1107A>C (p.Glu369Asp)
c.*52A>C (n.*52A>C)
c.1137A>C (p.Glu379Asp)
Xg.106033641T=CA2449828515SERPINA7c.1107A= (p.Glu369=)
c.*52A= (n.*52A=)
c.1137A= (p.Glu379=)
Xg.106033642T>ACA413874592SERPINA7c.1106A>T (p.Glu369Val)
c.*51A>T (n.*51A>T)
c.1136A>T (p.Glu379Val)
Xg.106033642T>CCA413874594SERPINA7c.1106A>G (p.Glu369Gly)
c.*51A>G (n.*51A>G)
c.1136A>G (p.Glu379Gly)
Xg.106033642T>GCA413874596SERPINA7c.1106A>C (p.Glu369Ala)
c.*51A>C (n.*51A>C)
c.1136A>C (p.Glu379Ala)
Xg.106033643C>ACA413874601SERPINA7c.1105G>T (p.Glu369Ter)
c.*50G>T (n.*50G>T)
c.1135G>T (p.Glu379Ter)
Xg.106033643C=CA2449828516SERPINA7c.1105G= (p.Glu369=)
c.*50G= (n.*50G=)
c.1135G= (p.Glu379=)
Xg.106033643C>GCA413874600SERPINA7c.1105G>C (p.Glu369Gln)
c.*50G>C (n.*50G>C)
c.1135G>C (p.Glu379Gln)
Xg.106033643C>TCA333351197SERPINA7c.1105G>A (p.Glu369Lys)
c.*50G>A (n.*50G>A)
c.1135G>A (p.Glu379Lys)
 dbSNP
Xg.106033644A>CCA517953283SERPINA7c.1104T>G (p.Pro368=)
c.*49T>G (n.*49T>G)
c.1134T>G (p.Pro378=)
Xg.106033644A>GCA517953284SERPINA7c.1104T>C (p.Pro368=)
c.*49T>C (n.*49T>C)
c.1134T>C (p.Pro378=)
Xg.106033644A>TCA517953285SERPINA7c.1104T>A (p.Pro368=)
c.*49T>A (n.*49T>A)
c.1134T>A (p.Pro378=)
Xg.106033645G>ACA413874602SERPINA7c.1103C>T (p.Pro368Leu)
c.*48C>T (n.*48C>T)
c.1133C>T (p.Pro378Leu)
 dbSNP gnomAD v2
Xg.106033645G>CCA413874605SERPINA7c.1103C>G (p.Pro368Arg)
c.*48C>G (n.*48C>G)
c.1133C>G (p.Pro378Arg)
Xg.106033645G=CA2449828517SERPINA7c.1103C= (p.Pro368=)
c.*48C= (n.*48C=)
c.1133C= (p.Pro378=)
Xg.106033645G>TCA413874603SERPINA7c.1103C>A (p.Pro368His)
c.*48C>A (n.*48C>A)
c.1133C>A (p.Pro378His)
Xg.106033646G>ACA10481648SERPINA7c.1102C>T (p.Pro368Ser)
c.*47C>T (n.*47C>T)
c.1132C>T (p.Pro378Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.106033646G>CCA413874609SERPINA7c.1102C>G (p.Pro368Ala)
c.*47C>G (n.*47C>G)
c.1132C>G (p.Pro378Ala)
Xg.106033646G=CA2449828518SERPINA7c.1102C= (p.Pro368=)
c.*47C= (n.*47C=)
c.1132C= (p.Pro378=)
Xg.106033646G>TCA413874610SERPINA7c.1102C>A (p.Pro368Thr)
c.*47C>A (n.*47C>A)
c.1132C>A (p.Pro378Thr)
Xg.106033647G>ACA517953286SERPINA7c.1101C>T (p.Val367=)
c.*46C>T (n.*46C>T)
c.1131C>T (p.Val377=)
 COSMIC
Xg.106033647G>CCA517953287SERPINA7c.1101C>G (p.Val367=)
c.*46C>G (n.*46C>G)
c.1131C>G (p.Val377=)
Xg.106033647G=CA2449828519SERPINA7c.1101C= (p.Val367=)
c.*46C= (n.*46C=)
c.1131C= (p.Val377=)
Xg.106033647G>TCA517953288SERPINA7c.1101C>A (p.Val367=)
c.*46C>A (n.*46C>A)
c.1131C>A (p.Val377=)
 dbSNP gnomAD v4
Xg.106033648A=CA2449828520SERPINA7c.1100T= (p.Val367=)
c.*45T= (n.*45T=)
c.1130T= (p.Val377=)
Xg.106033648A>CCA413874614SERPINA7c.1100T>G (p.Val367Gly)
c.*45T>G (n.*45T>G)
c.1130T>G (p.Val377Gly)
 dbSNP
Xg.106033648A>GCA413874616SERPINA7c.1100T>C (p.Val367Ala)
c.*45T>C (n.*45T>C)
c.1130T>C (p.Val377Ala)
Xg.106033648A>TCA413874618SERPINA7c.1100T>A (p.Val367Asp)
c.*45T>A (n.*45T>A)
c.1130T>A (p.Val377Asp)
Xg.106033648_106033649insGCA2694379805SERPINA7c.1099_1100insC (p.Val367AlafsTer3)
c.*44_*45insC (n.*44_*45insC)
c.1129_1130insC (p.Val377AlafsTer3)
 gnomAD v4
Xg.106033649C>ACA413874619SERPINA7c.1099G>T (p.Val367Phe)
c.*44G>T (n.*44G>T)
c.1129G>T (p.Val377Phe)
Xg.106033649C=CA2449828521SERPINA7c.1099G= (p.Val367=)
c.*44G= (n.*44G=)
c.1129G= (p.Val377=)
Xg.106033649C>GCA413874620SERPINA7c.1099G>C (p.Val367Leu)
c.*44G>C (n.*44G>C)
c.1129G>C (p.Val377Leu)
 dbSNP gnomAD v4
Xg.106033649C>TCA413874621SERPINA7c.1099G>A (p.Val367Ile)
c.*44G>A (n.*44G>A)
c.1129G>A (p.Val377Ile)
Xg.106033649_106033652delCA2539239588SERPINA7c.1096_1099del (p.Ala366SerfsTer28)
c.*41_*44del (n.*41_*44del)
c.1126_1129del (p.Ala376SerfsTer28)
Xg.106033650A>CCA517953289SERPINA7c.1098T>G (p.Ala366=)
c.*43T>G (n.*43T>G)
c.1128T>G (p.Ala376=)
Xg.106033650A>GCA517953290SERPINA7c.1098T>C (p.Ala366=)
c.*43T>C (n.*43T>C)
c.1128T>C (p.Ala376=)
Xg.106033650A>TCA517953291SERPINA7c.1098T>A (p.Ala366=)
c.*43T>A (n.*43T>A)
c.1128T>A (p.Ala376=)
Xg.106033651G>ACA413874623SERPINA7c.1097C>T (p.Ala366Val)
c.*42C>T (n.*42C>T)
c.1127C>T (p.Ala376Val)
Xg.106033651G>CCA413874625SERPINA7c.1097C>G (p.Ala366Gly)
c.*42C>G (n.*42C>G)
c.1127C>G (p.Ala376Gly)
Xg.106033651G>TCA413874627SERPINA7c.1097C>A (p.Ala366Asp)
c.*42C>A (n.*42C>A)
c.1127C>A (p.Ala376Asp)
Xg.106033652C>ACA333351198SERPINA7c.1096G>T (p.Ala366Ser)
c.*41G>T (n.*41G>T)
c.1126G>T (p.Ala376Ser)
 dbSNP gnomAD v3 gnomAD v4
Xg.106033652C=CA2449828522SERPINA7c.1096G= (p.Ala366=)
c.*41G= (n.*41G=)
c.1126G= (p.Ala376=)
Xg.106033652C>GCA413874632SERPINA7c.1096G>C (p.Ala366Pro)
c.*41G>C (n.*41G>C)
c.1126G>C (p.Ala376Pro)
Xg.106033652C>TCA413874630SERPINA7c.1096G>A (p.Ala366Thr)
c.*41G>A (n.*41G>A)
c.1126G>A (p.Ala376Thr)
 gnomAD v4
Xg.106033653T>ACA517953292SERPINA7c.1095A>T (p.Ala365=)
c.*40A>T (n.*40A>T)
c.1125A>T (p.Ala375=)
Xg.106033653T>CCA517953293SERPINA7c.1095A>G (p.Ala365=)
c.*40A>G (n.*40A>G)
c.1125A>G (p.Ala375=)
Xg.106033653T>GCA517953294SERPINA7c.1095A>C (p.Ala365=)
c.*40A>C (n.*40A>C)
c.1125A>C (p.Ala375=)
Xg.106033654G>ACA413874635SERPINA7c.1094C>T (p.Ala365Val)
c.*39C>T (n.*39C>T)
c.1124C>T (p.Ala375Val)
Xg.106033654G>CCA413874636SERPINA7c.1094C>G (p.Ala365Gly)
c.*39C>G (n.*39C>G)
c.1124C>G (p.Ala375Gly)
Xg.106033654G>TCA413874639SERPINA7c.1094C>A (p.Ala365Glu)
c.*39C>A (n.*39C>A)
c.1124C>A (p.Ala375Glu)
Xg.106033655C>ACA413874642SERPINA7c.1093G>T (p.Ala365Ser)
c.*38G>T (n.*38G>T)
c.1123G>T (p.Ala375Ser)
Xg.106033655C>GCA413874644SERPINA7c.1093G>C (p.Ala365Pro)
c.*38G>C (n.*38G>C)
c.1123G>C (p.Ala375Pro)
Xg.106033655C>TCA413874646SERPINA7c.1093G>A (p.Ala365Thr)
c.*38G>A (n.*38G>A)
c.1123G>A (p.Ala375Thr)
Xg.106033656A=CA2449828523SERPINA7c.1092T= (p.Ala364=)
c.*37T= (n.*37T=)
c.1122T= (p.Ala374=)
Xg.106033656A>CCA517953296SERPINA7c.1092T>G (p.Ala364=)
c.*37T>G (n.*37T>G)
c.1122T>G (p.Ala374=)
Xg.106033656A>GCA10481649SERPINA7c.1092T>C (p.Ala364=)
c.*37T>C (n.*37T>C)
c.1122T>C (p.Ala374=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.106033656A>TCA517953295SERPINA7c.1092T>A (p.Ala364=)
c.*37T>A (n.*37T>A)
c.1122T>A (p.Ala374=)
 gnomAD v4
Xg.106033657G>ACA413874650SERPINA7c.1091C>T (p.Ala364Val)
c.*36C>T (n.*36C>T)
c.1121C>T (p.Ala374Val)
Xg.106033657G>CCA413874652SERPINA7c.1091C>G (p.Ala364Gly)
c.*36C>G (n.*36C>G)
c.1121C>G (p.Ala374Gly)
Xg.106033657G>TCA413874654SERPINA7c.1091C>A (p.Ala364Asp)
c.*36C>A (n.*36C>A)
c.1121C>A (p.Ala374Asp)
Xg.106033658C>ACA413874663SERPINA7c.1090G>T (p.Ala364Ser)
c.*35G>T (n.*35G>T)
c.1120G>T (p.Ala374Ser)
Xg.106033658C>GCA413874666SERPINA7c.1090G>C (p.Ala364Pro)
c.*35G>C (n.*35G>C)
c.1120G>C (p.Ala374Pro)
Xg.106033658C>TCA413874668SERPINA7c.1090G>A (p.Ala364Thr)
c.*35G>A (n.*35G>A)
c.1120G>A (p.Ala374Thr)
 gnomAD v4
Xg.106033659T>ACA413874671SERPINA7c.1089A>T (p.Glu363Asp)
c.*34A>T (n.*34A>T)
c.1119A>T (p.Glu373Asp)
Xg.106033659T>CCA517953297SERPINA7c.1089A>G (p.Glu363=)
c.*34A>G (n.*34A>G)
c.1119A>G (p.Glu373=)
Xg.106033659T>GCA413874673SERPINA7c.1089A>C (p.Glu363Asp)
c.*34A>C (n.*34A>C)
c.1119A>C (p.Glu373Asp)
Xg.106033660T>ACA413874675SERPINA7c.1088A>T (p.Glu363Val)
c.*33A>T (n.*33A>T)
c.1118A>T (p.Glu373Val)
Xg.106033660T>CCA413874677SERPINA7c.1088A>G (p.Glu363Gly)
c.*33A>G (n.*33A>G)
c.1118A>G (p.Glu373Gly)
Xg.106033660T>GCA413874680SERPINA7c.1088A>C (p.Glu363Ala)
c.*33A>C (n.*33A>C)
c.1118A>C (p.Glu373Ala)
Xg.106033661C>ACA413874687SERPINA7c.1087G>T (p.Glu363Ter)
c.*32G>T (n.*32G>T)
c.1117G>T (p.Glu373Ter)
Xg.106033661C>GCA413874690SERPINA7c.1087G>C (p.Glu363Gln)
c.*32G>C (n.*32G>C)
c.1117G>C (p.Glu373Gln)
Xg.106033661C>TCA413874692SERPINA7c.1087G>A (p.Glu363Lys)
c.*32G>A (n.*32G>A)
c.1117G>A (p.Glu373Lys)
Xg.106033662A=CA2449828524SERPINA7c.1086T= (p.Thr362=)
c.*31T= (n.*31T=)
c.1116T= (p.Thr372=)
Xg.106033662A>CCA517953299SERPINA7c.1086T>G (p.Thr362=)
c.*31T>G (n.*31T>G)
c.1116T>G (p.Thr372=)
Xg.106033662A>GCA517953298SERPINA7c.1086T>C (p.Thr362=)
c.*31T>C (n.*31T>C)
c.1116T>C (p.Thr372=)
Xg.106033662A>TCA517953300SERPINA7c.1086T>A (p.Thr362=)
c.*31T>A (n.*31T>A)
c.1116T>A (p.Thr372=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.106033663G>ACA413874694SERPINA7c.1085C>T (p.Thr362Ile)
c.*30C>T (n.*30C>T)
c.1115C>T (p.Thr372Ile)
Xg.106033663G>CCA413874695SERPINA7c.1085C>G (p.Thr362Ser)
c.*30C>G (n.*30C>G)
c.1115C>G (p.Thr372Ser)
Xg.106033663G>TCA413874696SERPINA7c.1085C>A (p.Thr362Asn)
c.*30C>A (n.*30C>A)
c.1115C>A (p.Thr372Asn)
Xg.106033664T>ACA413874699SERPINA7c.1084A>T (p.Thr362Ser)
c.*29A>T (n.*29A>T)
c.1114A>T (p.Thr372Ser)
Xg.106033664T>CCA413874701SERPINA7c.1084A>G (p.Thr362Ala)
c.*29A>G (n.*29A>G)
c.1114A>G (p.Thr372Ala)
Xg.106033664T>GCA413874702SERPINA7c.1084A>C (p.Thr362Pro)
c.*29A>C (n.*29A>C)
c.1114A>C (p.Thr372Pro)
Xg.106033665T>ACA517953301SERPINA7c.1083A>T (p.Gly361=)
c.*28A>T (n.*28A>T)
c.1113A>T (p.Gly371=)
Xg.106033665T>CCA517953303SERPINA7c.1083A>G (p.Gly361=)
c.*28A>G (n.*28A>G)
c.1113A>G (p.Gly371=)
Xg.106033665T>GCA517953302SERPINA7c.1083A>C (p.Gly361=)
c.*28A>C (n.*28A>C)
c.1113A>C (p.Gly371=)
Xg.106033666C>ACA413874706SERPINA7c.1082G>T (p.Gly361Val)
c.*27G>T (n.*27G>T)
c.1112G>T (p.Gly371Val)
 dbSNP gnomAD v2 gnomAD v4
Xg.106033666C=CA2449828525SERPINA7c.1082G= (p.Gly361=)
c.*27G= (n.*27G=)
c.1112G= (p.Gly371=)
Xg.106033666C>GCA413874708SERPINA7c.1082G>C (p.Gly361Ala)
c.*27G>C (n.*27G>C)
c.1112G>C (p.Gly371Ala)
Xg.106033666C>TCA413874704SERPINA7c.1082G>A (p.Gly361Glu)
c.*27G>A (n.*27G>A)
c.1112G>A (p.Gly371Glu)
Xg.106033667C>ACA413874713SERPINA7c.1081G>T (p.Gly361Ter)
c.*26G>T (n.*26G>T)
c.1111G>T (p.Gly371Ter)
Xg.106033667C>GCA413874714SERPINA7c.1081G>C (p.Gly361Arg)
c.*26G>C (n.*26G>C)
c.1111G>C (p.Gly371Arg)
Xg.106033667C>TCA413874716SERPINA7c.1081G>A (p.Gly361Arg)
c.*26G>A (n.*26G>A)
c.1111G>A (p.Gly371Arg)
Xg.106033668C>ACA413874719SERPINA7c.1080G>T (p.Lys360Asn)
c.*25G>T (n.*25G>T)
c.1110G>T (p.Lys370Asn)
Xg.106033668C>GCA413874720SERPINA7c.1080G>C (p.Lys360Asn)
c.*25G>C (n.*25G>C)
c.1110G>C (p.Lys370Asn)
Xg.106033668C>TCA517953304SERPINA7c.1080G>A (p.Lys360=)
c.*25G>A (n.*25G>A)
c.1110G>A (p.Lys370=)
Xg.106033669T>ACA413874724SERPINA7c.1079A>T (p.Lys360Met)
c.*24A>T (n.*24A>T)
c.1109A>T (p.Lys370Met)
Xg.106033669T>CCA413874722SERPINA7c.1079A>G (p.Lys360Arg)
c.*24A>G (n.*24A>G)
c.1109A>G (p.Lys370Arg)
 dbSNP
Xg.106033669T>GCA413874723SERPINA7c.1079A>C (p.Lys360Thr)
c.*24A>C (n.*24A>C)
c.1109A>C (p.Lys370Thr)
Xg.106033669T=CA2449828526SERPINA7c.1079A= (p.Lys360=)
c.*24A= (n.*24A=)
c.1109A= (p.Lys370=)
Xg.106033670T>ACA413874725SERPINA7c.1078A>T (p.Lys360Ter)
c.*23A>T (n.*23A>T)
c.1108A>T (p.Lys370Ter)
Xg.106033670T>CCA413874726SERPINA7c.1078A>G (p.Lys360Glu)
c.*23A>G (n.*23A>G)
c.1108A>G (p.Lys370Glu)
Xg.106033670T>GCA413874728SERPINA7c.1078A>C (p.Lys360Gln)
c.*23A>C (n.*23A>C)
c.1108A>C (p.Lys370Gln)
Xg.106033671T>ACA413874731SERPINA7c.1077A>T (p.Glu359Asp)
c.*22A>T (n.*22A>T)
c.1107A>T (p.Glu369Asp)
Xg.106033671T>CCA517953305SERPINA7c.1077A>G (p.Glu359=)
c.*22A>G (n.*22A>G)
c.1107A>G (p.Glu369=)
Xg.106033671T>GCA413874732SERPINA7c.1077A>C (p.Glu359Asp)
c.*22A>C (n.*22A>C)
c.1107A>C (p.Glu369Asp)
Xg.106033672T>ACA413874733SERPINA7c.1076A>T (p.Glu359Val)
c.*21A>T (n.*21A>T)
c.1106A>T (p.Glu369Val)
Xg.106033672T>CCA413874736SERPINA7c.1076A>G (p.Glu359Gly)
c.*21A>G (n.*21A>G)
c.1106A>G (p.Glu369Gly)
Xg.106033672T>GCA413874734SERPINA7c.1076A>C (p.Glu359Ala)
c.*21A>C (n.*21A>C)
c.1106A>C (p.Glu369Ala)
Xg.106033673C>ACA413874739SERPINA7c.1075G>T (p.Glu359Ter)
c.*20G>T (n.*20G>T)
c.1105G>T (p.Glu369Ter)
Xg.106033673C>GCA413874744SERPINA7c.1075G>C (p.Glu359Gln)
c.*20G>C (n.*20G>C)
c.1105G>C (p.Glu369Gln)
Xg.106033673C>TCA413874741SERPINA7c.1075G>A (p.Glu359Lys)
c.*20G>A (n.*20G>A)
c.1105G>A (p.Glu369Lys)
Xg.106033674A>CCA517953306SERPINA7c.1074T>G (p.Gly358=)
c.*19T>G (n.*19T>G)
c.1104T>G (p.Gly368=)
Xg.106033674A>GCA517953307SERPINA7c.1074T>C (p.Gly358=)
c.*19T>C (n.*19T>C)
c.1104T>C (p.Gly368=)
Xg.106033674A>TCA517953308SERPINA7c.1074T>A (p.Gly358=)
c.*19T>A (n.*19T>A)
c.1104T>A (p.Gly368=)
Xg.106033675C>ACA413874746SERPINA7c.1073G>T (p.Gly358Val)
c.*18G>T (n.*18G>T)
c.1103G>T (p.Gly368Val)
Xg.106033675C>GCA413874750SERPINA7c.1073G>C (p.Gly358Ala)
c.*18G>C (n.*18G>C)
c.1103G>C (p.Gly368Ala)
Xg.106033675C>TCA413874748SERPINA7c.1073G>A (p.Gly358Asp)
c.*18G>A (n.*18G>A)
c.1103G>A (p.Gly368Asp)
 ClinVar
Xg.106033676C>ACA413874752SERPINA7c.1072G>T (p.Gly358Cys)
c.*17G>T (n.*17G>T)
c.1102G>T (p.Gly368Cys)
Xg.106033676C>GCA413874759SERPINA7c.1072G>C (p.Gly358Arg)
c.*17G>C (n.*17G>C)
c.1102G>C (p.Gly368Arg)
Xg.106033676C>TCA413874761SERPINA7c.1072G>A (p.Gly358Ser)
c.*17G>A (n.*17G>A)
c.1102G>A (p.Gly368Ser)
Xg.106033677A>CCA413874763SERPINA7c.1071T>G (p.Ile357Met)
c.*16T>G (n.*16T>G)
c.1101T>G (p.Ile367Met)
Xg.106033677A>GCA517953310SERPINA7c.1071T>C (p.Ile357=)
c.*16T>C (n.*16T>C)
c.1101T>C (p.Ile367=)
 gnomAD v4
Xg.106033677A>TCA517953309SERPINA7c.1071T>A (p.Ile357=)
c.*16T>A (n.*16T>A)
c.1101T>A (p.Ile367=)
Xg.106033678A>CCA413874764SERPINA7c.1070T>G (p.Ile357Ser)
c.*15T>G (n.*15T>G)
c.1100T>G (p.Ile367Ser)
Xg.106033678A>GCA413874766SERPINA7c.1070T>C (p.Ile357Thr)
c.*15T>C (n.*15T>C)
c.1100T>C (p.Ile367Thr)
Xg.106033678A>TCA413874768SERPINA7c.1070T>A (p.Ile357Asn)
c.*15T>A (n.*15T>A)
c.1100T>A (p.Ile367Asn)
Xg.106033679T>ACA413874770SERPINA7c.1069A>T (p.Ile357Phe)
c.*14A>T (n.*14A>T)
c.1099A>T (p.Ile367Phe)
Xg.106033679T>CCA10481650SERPINA7c.1069A>G (p.Ile357Val)
c.*14A>G (n.*14A>G)
c.1099A>G (p.Ile367Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.106033679T>GCA413874774SERPINA7c.1069A>C (p.Ile357Leu)
c.*14A>C (n.*14A>C)
c.1099A>C (p.Ile367Leu)
Xg.106033679T=CA2449827919SERPINA7c.1069A= (p.Ile357=)
c.*14A= (n.*14A=)
c.1099A= (p.Ile367=)
Xg.106033680G>ACA517953311SERPINA7c.1068C>T (p.His356=)
c.*13C>T (n.*13C>T)
c.1098C>T (p.His366=)
Xg.106033680G>CCA413874781SERPINA7c.1068C>G (p.His356Gln)
c.*13C>G (n.*13C>G)
c.1098C>G (p.His366Gln)
Xg.106033680G>TCA413874779SERPINA7c.1068C>A (p.His356Gln)
c.*13C>A (n.*13C>A)
c.1098C>A (p.His366Gln)
Xg.106033681T>ACA413874783SERPINA7c.1067A>T (p.His356Leu)
c.*12A>T (n.*12A>T)
c.1097A>T (p.His366Leu)
Xg.106033681T>CCA413874784SERPINA7c.1067A>G (p.His356Arg)
c.*12A>G (n.*12A>G)
c.1097A>G (p.His366Arg)
Xg.106033681T>GCA413874788SERPINA7c.1067A>C (p.His356Pro)
c.*12A>C (n.*12A>C)
c.1097A>C (p.His366Pro)
Xg.106033682G>ACA413874789SERPINA7c.1066C>T (p.His356Tyr)
c.*11C>T (n.*11C>T)
c.1096C>T (p.His366Tyr)
 gnomAD v4
Xg.106033682G>CCA413874790SERPINA7c.1066C>G (p.His356Asp)
c.*11C>G (n.*11C>G)
c.1096C>G (p.His366Asp)
Xg.106033682G>TCA413874792SERPINA7c.1066C>A (p.His356Asn)
c.*11C>A (n.*11C>A)
c.1096C>A (p.His366Asn)
 gnomAD v4
Xg.106033683C>ACA517953312SERPINA7c.1065G>T (p.Leu355=)
c.*10G>T (n.*10G>T)
c.1095G>T (p.Leu365=)
Xg.106033683C>GCA517953313SERPINA7c.1065G>C (p.Leu355=)
c.*10G>C (n.*10G>C)
c.1095G>C (p.Leu365=)
 dbSNP
Xg.106033683C>TCA517953314SERPINA7c.1065G>A (p.Leu355=)
c.*10G>A (n.*10G>A)
c.1095G>A (p.Leu365=)
 gnomAD v4
Xg.106033684A>CCA413874794SERPINA7c.1064T>G (p.Leu355Arg)
c.*9T>G (n.*9T>G)
c.1094T>G (p.Leu365Arg)
Xg.106033684A>GCA413874796SERPINA7c.1064T>C (p.Leu355Pro)
c.*9T>C (n.*9T>C)
c.1094T>C (p.Leu365Pro)
Xg.106033684A>TCA413874799SERPINA7c.1064T>A (p.Leu355Gln)
c.*9T>A (n.*9T>A)
c.1094T>A (p.Leu365Gln)
Xg.106033685G>ACA517953315SERPINA7c.1063C>T (p.Leu355=)
c.*8C>T (n.*8C>T)
c.1093C>T (p.Leu365=)
Xg.106033685G>CCA10481651SERPINA7c.1063C>G (p.Leu355Val)
c.*8C>G (n.*8C>G)
c.1093C>G (p.Leu365Val)
 dbSNP ExAC
Xg.106033685G=CA2449827920SERPINA7c.1063C= (p.Leu355=)
c.*8C= (n.*8C=)
c.1093C= (p.Leu365=)
Xg.106033685G>TCA413874802SERPINA7c.1063C>A (p.Leu355Met)
c.*8C>A (n.*8C>A)
c.1093C>A (p.Leu365Met)
Xg.106033686C>ACA517953316SERPINA7c.1062G>T (p.Val354=)
c.*7G>T (n.*7G>T)
c.1092G>T (p.Val364=)
Xg.106033686C>GCA517953317SERPINA7c.1062G>C (p.Val354=)
c.*7G>C (n.*7G>C)
c.1092G>C (p.Val364=)
 COSMIC
Xg.106033686C>TCA517953318SERPINA7c.1062G>A (p.Val354=)
c.*7G>A (n.*7G>A)
c.1092G>A (p.Val364=)
Xg.106033687A>CCA413874811SERPINA7c.1061T>G (p.Val354Gly)
n.395T>G
c.*6T>G (n.*6T>G)
c.1091T>G (p.Val364Gly)
Xg.106033687A>GCA413874812SERPINA7c.1061T>C (p.Val354Ala)
n.395T>C
c.*6T>C (n.*6T>C)
c.1091T>C (p.Val364Ala)
Xg.106033687A>TCA413874809SERPINA7c.1061T>A (p.Val354Glu)
n.395T>A
c.*6T>A (n.*6T>A)
c.1091T>A (p.Val364Glu)
Xg.106033688C>ACA413874814SERPINA7c.1060G>T (p.Val354Leu)
n.394G>T
c.*5G>T (n.*5G>T)
c.1090G>T (p.Val364Leu)
Xg.106033688C=CA2449827921SERPINA7c.1060G= (p.Val354=)
n.394G=
c.*5G= (n.*5G=)
c.1090G= (p.Val364=)
Xg.106033688C>GCA10481652SERPINA7c.1060G>C (p.Val354Leu)
n.394G>C
c.*5G>C (n.*5G>C)
c.1090G>C (p.Val364Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.106033688C>TCA413874817SERPINA7c.1060G>A (p.Val354Met)
n.394G>A
c.*5G>A (n.*5G>A)
c.1090G>A (p.Val364Met)
Xg.106033689A>CCA517953319SERPINA7c.1059T>G (p.Ala353=)
n.393T>G
c.*4T>G (n.*4T>G)
c.1089T>G (p.Ala363=)
Xg.106033689A>GCA517953320SERPINA7c.1059T>C (p.Ala353=)
n.393T>C
c.*4T>C (n.*4T>C)
c.1089T>C (p.Ala363=)
Xg.106033689A>TCA517953321SERPINA7c.1059T>A (p.Ala353=)
n.393T>A
c.*4T>A (n.*4T>A)
c.1089T>A (p.Ala363=)
Xg.106033690G>ACA413874821SERPINA7c.1058C>T (p.Ala353Val)
n.392C>T
c.*3C>T (n.*3C>T)
c.1088C>T (p.Ala363Val)
 gnomAD v4
Xg.106033690G>CCA413874824SERPINA7c.1058C>G (p.Ala353Gly)
n.392C>G
c.*3C>G (n.*3C>G)
c.1088C>G (p.Ala363Gly)
Xg.106033690G>TCA413874826SERPINA7c.1058C>A (p.Ala353Asp)
n.392C>A
c.*3C>A (n.*3C>A)
c.1088C>A (p.Ala363Asp)
Xg.106033691C>ACA413874829SERPINA7c.1057G>T (p.Ala353Ser)
n.391G>T
c.*2G>T (n.*2G>T)
c.1087G>T (p.Ala363Ser)
 dbSNP gnomAD v4
Xg.106033691C=CA2449827922SERPINA7c.1057G= (p.Ala353=)
n.391G=
c.*2G= (n.*2G=)
c.1087G= (p.Ala363=)
Xg.106033691C>GCA413874830SERPINA7c.1057G>C (p.Ala353Pro)
n.391G>C
c.*2G>C (n.*2G>C)
c.1087G>C (p.Ala363Pro)
Xg.106033691C>TCA10481653SERPINA7c.1057G>A (p.Ala353Thr)
n.391G>A
c.*2G>A (n.*2G>A)
c.1087G>A (p.Ala363Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.106033692C>ACA413874833SERPINA7c.1056G>T (p.Lys352Asn)
n.390G>T
c.*1G>T (n.*1G>T)
c.1086G>T (p.Lys362Asn)
 COSMIC
Xg.106033692C>GCA413874835SERPINA7c.1056G>C (p.Lys352Asn)
n.390G>C
c.*1G>C (n.*1G>C)
c.1086G>C (p.Lys362Asn)
Xg.106033692C>TCA517953322SERPINA7c.1056G>A (p.Lys352=)
n.390G>A
c.*1G>A (n.*1G>A)
c.1086G>A (p.Lys362=)
Xg.106033692_106033693delinsCTCA2449827923SERPINA7c.1055_1056delinsAG (p.Lys352=)
n.389_390delinsAG
c.1116_*1delinsAG (n.[c.1116_*1delinsAG;Ter372=])
c.1085_1086delinsAG (p.Lys362=)
Xg.106033693T>ACA10481654SERPINA7c.1055A>T (p.Lys352Met)
n.389A>T
c.1116A>T (p.Ter372Tyr)
c.1085A>T (p.Lys362Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.106033693T>CCA413874841SERPINA7c.1055A>G (p.Lys352Arg)
n.389A>G
c.1116A>G (p.Ter372=)
c.1085A>G (p.Lys362Arg)
Xg.106033693T>GCA413874838SERPINA7c.1055A>C (p.Lys352Thr)
n.389A>C
c.1116A>C (p.Ter372Tyr)
c.1085A>C (p.Lys362Thr)
Xg.106033693T=CA2449827925SERPINA7c.1055A= (p.Lys352=)
n.389A=
c.1116A= (p.Ter372=)
c.1085A= (p.Lys362=)
Xg.106033694delCA643689188SERPINA7c.1055del (p.Lys352ArgfsTer?)
n.389del
c.1116del (p.Ter372=)
c.1085del (p.Lys362ArgfsTer?)
 dbSNP gnomAD v2 gnomAD v4
Xg.106033694T>ACA413874844SERPINA7c.1054A>T (p.Lys352Ter)
n.388A>T
c.1115A>T (p.Ter372Leu)
c.1084A>T (p.Lys362Ter)
Xg.106033694T>CCA413874845SERPINA7c.1054A>G (p.Lys352Glu)
n.388A>G
c.1115A>G (p.Ter372=)
c.1084A>G (p.Lys362Glu)
Xg.106033694T>GCA413874847SERPINA7c.1054A>C (p.Lys352Gln)
n.388A>C
c.1115A>C (p.Ter372Ser)
c.1084A>C (p.Lys362Gln)
Xg.106033695A=CA2449827926SERPINA7c.1053T= (p.His351=)
n.387T=
c.1114T= (p.Ter372=)
c.1083T= (p.His361=)
Xg.106033695A>CCA413874849SERPINA7c.1053T>G (p.His351Gln)
n.387T>G
c.1114T>G (p.Ter372Glu)
c.1083T>G (p.His361Gln)
Xg.106033695A>GCA517953323SERPINA7c.1053T>C (p.His351=)
n.387T>C
c.1114T>C (p.Ter372Gln)
c.1083T>C (p.His361=)
 gnomAD v4
Xg.106033695A>TCA413874852SERPINA7c.1053T>A (p.His351Gln)
n.387T>A
c.1114T>A (p.Ter372Lys)
c.1083T>A (p.His361Gln)
 dbSNP
Xg.106033696T>ACA413874859SERPINA7c.1052A>T (p.His351Leu)
n.386A>T
c.1113A>T (p.Pro371=)
c.1082A>T (p.His361Leu)
Xg.106033696T>CCA413874854SERPINA7c.1052A>G (p.His351Arg)
n.386A>G
c.1113A>G (p.Pro371=)
c.1082A>G (p.His361Arg)
Xg.106033696T>GCA413874856SERPINA7c.1052A>C (p.His351Pro)
n.386A>C
c.1113A>C (p.Pro371=)
c.1082A>C (p.His361Pro)
Xg.106033697G>ACA120667SERPINA7c.1051C>T (p.His351Tyr)
n.385C>T
c.1112C>T (p.Pro371Leu)
c.1081C>T (p.His361Tyr)
 ClinVar dbSNP
Xg.106033697G>CCA413874863SERPINA7c.1051C>G (p.His351Asp)
n.385C>G
c.1112C>G (p.Pro371Arg)
c.1081C>G (p.His361Asp)
Xg.106033697G=CA2449827927SERPINA7c.1051C= (p.His351=)
n.385C=
c.1112C= (p.Pro371=)
c.1081C= (p.His361=)
Xg.106033697G>TCA413874865SERPINA7c.1051C>A (p.His351Asn)
n.385C>A
c.1112C>A (p.Pro371Gln)
c.1081C>A (p.His361Asn)
 gnomAD v4
Xg.106033698G>ACA517953324SERPINA7c.1050C>T (p.Ala350=)
n.384C>T
c.1111C>T (p.Pro371Ser)
c.1080C>T (p.Ala360=)
Xg.106033698G>CCA517953325SERPINA7c.1050C>G (p.Ala350=)
n.384C>G
c.1111C>G (p.Pro371Ala)
c.1080C>G (p.Ala360=)
Xg.106033698G>TCA517953326SERPINA7c.1050C>A (p.Ala350=)
n.384C>A
c.1111C>A (p.Pro371Thr)
c.1080C>A (p.Ala360=)
Xg.106033699G>ACA10481655SERPINA7c.1049C>T (p.Ala350Val)
n.383C>T
c.1110C>T (p.Cys370=)
c.1079C>T (p.Ala360Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.106033699G>CCA413874868SERPINA7c.1049C>G (p.Ala350Gly)
n.383C>G
c.1110C>G (p.Cys370Trp)
c.1079C>G (p.Ala360Gly)
Xg.106033699G=CA2449827928SERPINA7c.1049C= (p.Ala350=)
n.383C=
c.1110C= (p.Cys370=)
c.1079C= (p.Ala360=)
Xg.106033699G>TCA413874871SERPINA7c.1049C>A (p.Ala350Asp)
n.383C>A
c.1110C>A (p.Cys370Ter)
c.1079C>A (p.Ala360Asp)
 dbSNP gnomAD v2 gnomAD v4
Xg.106033700C>ACA413874875SERPINA7c.1048G>T (p.Ala350Ser)
n.382G>T
c.1109G>T (p.Cys370Phe)
c.1078G>T (p.Ala360Ser)
Xg.106033700C>GCA413874878SERPINA7c.1048G>C (p.Ala350Pro)
n.382G>C
c.1109G>C (p.Cys370Ser)
c.1078G>C (p.Ala360Pro)
Xg.106033700C>TCA413874873SERPINA7c.1048G>A (p.Ala350Thr)
n.382G>A
c.1109G>A (p.Cys370Tyr)
c.1078G>A (p.Ala360Thr)
 gnomAD v4
Xg.106033701A>CCA517953327SERPINA7c.1047T>G (p.Ala349=)
n.381T>G
c.1108T>G (p.Cys370Gly)
c.1077T>G (p.Ala359=)
Xg.106033701A>GCA517953328SERPINA7c.1047T>C (p.Ala349=)
n.381T>C
c.1108T>C (p.Cys370Arg)
c.1077T>C (p.Ala359=)
Xg.106033701A>TCA517953329SERPINA7c.1047T>A (p.Ala349=)
n.381T>A
c.1108T>A (p.Cys370Ser)
c.1077T>A (p.Ala359=)
 COSMIC
Xg.106033702G>ACA413874884SERPINA7c.1046C>T (p.Ala349Val)
n.380C>T
c.1107C>T (p.Gly369=)
c.1076C>T (p.Ala359Val)
Xg.106033702G>CCA413874880SERPINA7c.1046C>G (p.Ala349Gly)
n.380C>G
c.1107C>G (p.Gly369=)
c.1076C>G (p.Ala359Gly)
Xg.106033702G>TCA413874882SERPINA7c.1046C>A (p.Ala349Asp)
n.380C>A
c.1107C>A (p.Gly369=)
c.1076C>A (p.Ala359Asp)

Number of alleles fetched