Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.94382729T>ACA390849589SERPINA1c.509A>T (p.Asn170Ile)
c.251A>T (p.Asn84Ile)
14g.94382729T>CCA390849591SERPINA1c.509A>G (p.Asn170Ser)
c.251A>G (p.Asn84Ser)
14g.94382729T>GCA390849590SERPINA1c.509A>C (p.Asn170Thr)
c.251A>C (p.Asn84Thr)
COSMIC
14g.94382730T>ACA390849592SERPINA1c.508A>T (p.Asn170Tyr)
c.250A>T (p.Asn84Tyr)
14g.94382730T>CCA390849594SERPINA1c.508A>G (p.Asn170Asp)
c.250A>G (p.Asn84Asp)
14g.94382730T>GCA390849593SERPINA1c.508A>C (p.Asn170His)
c.250A>C (p.Asn84His)
gnomAD v4
14g.94382731G>ACA487622041SERPINA1c.507C>T (p.Val169=)
c.249C>T (p.Val83=)
14g.94382731G>CCA487622042SERPINA1c.507C>G (p.Val169=)
c.249C>G (p.Val83=)
14g.94382731G>TCA487622043SERPINA1c.507C>A (p.Val169=)
c.249C>A (p.Val83=)
14g.94382732A>CCA390849595SERPINA1c.506T>G (p.Val169Gly)
c.248T>G (p.Val83Gly)
14g.94382732A>GCA390849597SERPINA1c.506T>C (p.Val169Ala)
c.248T>C (p.Val83Ala)
14g.94382732A>TCA390849596SERPINA1c.506T>A (p.Val169Asp)
c.248T>A (p.Val83Asp)
gnomAD v4
14g.94382733C>ACA390849598SERPINA1c.505G>T (p.Val169Phe)
c.247G>T (p.Val83Phe)
14g.94382733C=CA2155954754SERPINA1c.505G= (p.Val169=)
c.247G= (p.Val83=)
14g.94382733C>GCA390849600SERPINA1c.505G>C (p.Val169Leu)
c.247G>C (p.Val83Leu)
14g.94382733C>TCA390849599SERPINA1c.505G>A (p.Val169Ile)
c.247G>A (p.Val83Ile)
dbSNP gnomAD v3 gnomAD v4
14g.94382734A>CCA487622044SERPINA1c.504T>G (p.Thr168=)
c.246T>G (p.Thr82=)
14g.94382734A>GCA487622046SERPINA1c.504T>C (p.Thr168=)
c.246T>C (p.Thr82=)
14g.94382734A>TCA487622045SERPINA1c.504T>A (p.Thr168=)
c.246T>A (p.Thr82=)
14g.94382735G>ACA390849601SERPINA1c.503C>T (p.Thr168Ile)
c.245C>T (p.Thr82Ile)
14g.94382735G>CCA390849602SERPINA1c.503C>G (p.Thr168Ser)
c.245C>G (p.Thr82Ser)
14g.94382735G>TCA390849603SERPINA1c.503C>A (p.Thr168Asn)
c.245C>A (p.Thr82Asn)
14g.94382736T>ACA390849604SERPINA1c.502A>T (p.Thr168Ser)
c.244A>T (p.Thr82Ser)
14g.94382736T>CCA7327483SERPINA1c.502A>G (p.Thr168Ala)
c.244A>G (p.Thr82Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94382736T>GCA390849605SERPINA1c.502A>C (p.Thr168Pro)
c.244A>C (p.Thr82Pro)
14g.94382736T=CA2155954755SERPINA1c.502A= (p.Thr168=)
c.244A= (p.Thr82=)
14g.94382737G>ACA487622047SERPINA1c.501C>T (p.Phe167=)
c.243C>T (p.Phe81=)
14g.94382737G>CCA390849606SERPINA1c.501C>G (p.Phe167Leu)
c.243C>G (p.Phe81Leu)
14g.94382737G>TCA390849607SERPINA1c.501C>A (p.Phe167Leu)
c.243C>A (p.Phe81Leu)
14g.94382738A>CCA390849608SERPINA1c.500T>G (p.Phe167Cys)
c.242T>G (p.Phe81Cys)
14g.94382738A>GCA390849610SERPINA1c.500T>C (p.Phe167Ser)
c.242T>C (p.Phe81Ser)
14g.94382738A>TCA390849609SERPINA1c.500T>A (p.Phe167Tyr)
c.242T>A (p.Phe81Tyr)
14g.94382739A>CCA390849611SERPINA1c.499T>G (p.Phe167Val)
c.241T>G (p.Phe81Val)
14g.94382739A>GCA390849612SERPINA1c.499T>C (p.Phe167Leu)
c.241T>C (p.Phe81Leu)
gnomAD v4
14g.94382739A>TCA390849613SERPINA1c.499T>A (p.Phe167Ile)
c.241T>A (p.Phe81Ile)
14g.94382739_94382769delinsAGGCTTCTGAGTGGTACAACTTTTTAACATCCA2155954756SERPINA1c.469_499delinsGATGTTAAAAAGTTGTACCACTCAGAAGCCT (p.Asp157=)
c.211_241delinsGATGTTAAAAAGTTGTACCACTCAGAAGCCT (p.Asp71=)
14g.94382740G>ACA487622048SERPINA1c.498C>T (p.Ala166=)
c.240C>T (p.Ala80=)
gnomAD v4
14g.94382740G>CCA487622049SERPINA1c.498C>G (p.Ala166=)
c.240C>G (p.Ala80=)
14g.94382740G>TCA487622050SERPINA1c.498C>A (p.Ala166=)
c.240C>A (p.Ala80=)
14g.94382740_94382769delCA7327484SERPINA1c.469_498del (p.Asp157_Ala166del)
c.211_240del (p.Asp71_Ala80del)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.94382741G>ACA390849614SERPINA1c.497C>T (p.Ala166Val)
c.239C>T (p.Ala80Val)
COSMIC
14g.94382741G>CCA390849615SERPINA1c.497C>G (p.Ala166Gly)
c.239C>G (p.Ala80Gly)
dbSNP gnomAD v3 gnomAD v4
14g.94382741G=CA2155954757SERPINA1c.497C= (p.Ala166=)
c.239C= (p.Ala80=)
14g.94382741G>TCA265864118SERPINA1c.497C>A (p.Ala166Asp)
c.239C>A (p.Ala80Asp)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94382742C>ACA390849616SERPINA1c.496G>T (p.Ala166Ser)
c.238G>T (p.Ala80Ser)
14g.94382742C>GCA390849617SERPINA1c.496G>C (p.Ala166Pro)
c.238G>C (p.Ala80Pro)
14g.94382742C>TCA390849618SERPINA1c.496G>A (p.Ala166Thr)
c.238G>A (p.Ala80Thr)
14g.94382743T>ACA390849619SERPINA1c.495A>T (p.Glu165Asp)
c.237A>T (p.Glu79Asp)
14g.94382743T>CCA487622051SERPINA1c.495A>G (p.Glu165=)
c.237A>G (p.Glu79=)
14g.94382743T>GCA390849620SERPINA1c.495A>C (p.Glu165Asp)
c.237A>C (p.Glu79Asp)

Number of alleles fetched