Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)

Number of alleles fetched