Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.94378463delCA616114970SERPINA1c.1245del (p.Thr416ProfsTer?)
c.*544del (n.*544del)
dbSNP gnomAD
14g.94378462G>ACA390847293SERPINA1c.1244C>T (p.Pro415Leu)
c.*543C>T (n.*543C>T)
ClinVar
14g.94378462G>CCA390847294SERPINA1c.1244C>G (p.Pro415Arg)
c.*543C>G (n.*543C>G)
14g.94378462G>TCA390847295SERPINA1c.1244C>A (p.Pro415His)
c.*543C>A (n.*543C>A)
14g.94378463G>ACA390847296SERPINA1c.1243C>T (p.Pro415Ser)
c.*542C>T (n.*542C>T)
14g.94378463G>CCA390847297SERPINA1c.1243C>G (p.Pro415Ala)
c.*542C>G (n.*542C>G)
14g.94378463G>TCA390847298SERPINA1c.1243C>A (p.Pro415Thr)
c.*542C>A (n.*542C>A)
14g.94378464A>CCA390847299SERPINA1c.1242T>G (p.Asn414Lys)
c.*541T>G (n.*541T>G)
14g.94378464A>GCA487621083SERPINA1c.1242T>C (p.Asn414=)
c.*541T>C (n.*541T>C)
14g.94378464A>TCA390847300SERPINA1c.1242T>A (p.Asn414Lys)
c.*541T>A (n.*541T>A)
14g.94378465T>ACA390847301SERPINA1c.1241A>T (p.Asn414Ile)
c.*540A>T (n.*540A>T)
gnomAD
14g.94378465T>CCA390847303SERPINA1c.1241A>G (p.Asn414Ser)
c.*540A>G (n.*540A>G)
14g.94378465T>GCA390847302SERPINA1c.1241A>C (p.Asn414Thr)
c.*540A>C (n.*540A>C)
14g.94378465T=CA2155953371SERPINA1c.1241A= (p.Asn414=)
c.*540A= (n.*540A=)
14g.94378466T>ACA390847304SERPINA1c.1240A>T (p.Asn414Tyr)
c.*539A>T (n.*539A>T)
14g.94378466T>CCA390847305SERPINA1c.1240A>G (p.Asn414Asp)
c.*539A>G (n.*539A>G)
14g.94378466T>GCA390847306SERPINA1c.1240A>C (p.Asn414His)
c.*539A>C (n.*539A>C)
14g.94378466_94378469delinsTCACCA2155953372SERPINA1c.1237_1240delinsGTGA (p.Val413=)
c.*536_*539delinsGTGA (n.*536_*539delinsGTGA)
14g.94378467C>ACA487621084SERPINA1c.1239G>T (p.Val413=)
c.*538G>T (n.*538G>T)
14g.94378467C>GCA487621086SERPINA1c.1239G>C (p.Val413=)
c.*538G>C (n.*538G>C)
14g.94378467C>TCA487621087SERPINA1c.1239G>A (p.Val413=)
c.*538G>A (n.*538G>A)
COSMIC
14g.94378470_94378472delCA7327246SERPINA1c.1237_1239del (p.Val413del)
c.*536_*538del (n.*536_*538del)
dbSNP ExAC gnomAD
14g.94378468A>CCA390847307SERPINA1c.1238T>G (p.Val413Gly)
c.*537T>G (n.*537T>G)
14g.94378468A>GCA390847308SERPINA1c.1238T>C (p.Val413Ala)
c.*537T>C (n.*537T>C)
14g.94378468A>TCA390847309SERPINA1c.1238T>A (p.Val413Glu)
c.*537T>A (n.*537T>A)
14g.94378469C>ACA390847310SERPINA1c.1237G>T (p.Val413Leu)
c.*536G>T (n.*536G>T)
14g.94378469C=CA2155953373SERPINA1c.1237G= (p.Val413=)
c.*536G= (n.*536G=)
14g.94378469C>GCA390847311SERPINA1c.1237G>C (p.Val413Leu)
c.*536G>C (n.*536G>C)
14g.94378469C>TCA390847312SERPINA1c.1237G>A (p.Val413Met)
c.*536G>A (n.*536G>A)
14g.94378470C>ACA487621088SERPINA1c.1236G>T (p.Val412=)
c.*535G>T (n.*535G>T)
14g.94378470C>GCA487621090SERPINA1c.1236G>C (p.Val412=)
c.*535G>C (n.*535G>C)
14g.94378470C>TCA487621091SERPINA1c.1236G>A (p.Val412=)
c.*535G>A (n.*535G>A)
14g.94378471A>CCA390847313SERPINA1c.1235T>G (p.Val412Gly)
c.*534T>G (n.*534T>G)
14g.94378471A>GCA390847314SERPINA1c.1235T>C (p.Val412Ala)
c.*534T>C (n.*534T>C)
14g.94378471A>TCA390847315SERPINA1c.1235T>A (p.Val412Glu)
c.*534T>A (n.*534T>A)
14g.94378472C>ACA390847318SERPINA1c.1234G>T (p.Val412Leu)
c.*533G>T (n.*533G>T)
14g.94378472C>GCA390847317SERPINA1c.1234G>C (p.Val412Leu)
c.*533G>C (n.*533G>C)
14g.94378472C>TCA390847316SERPINA1c.1234G>A (p.Val412Met)
c.*533G>A (n.*533G>A)
14g.94378473T>ACA390847319SERPINA1c.1233A>T (p.Lys411Asn)
c.*532A>T (n.*532A>T)
14g.94378473T>CCA487621093SERPINA1c.1233A>G (p.Lys411=)
c.*532A>G (n.*532A>G)
14g.94378473T>GCA390847320SERPINA1c.1233A>C (p.Lys411Asn)
c.*532A>C (n.*532A>C)
14g.94378474T>ACA390847321SERPINA1c.1232A>T (p.Lys411Ile)
c.*531A>T (n.*531A>T)
14g.94378474T>CCA390847322SERPINA1c.1232A>G (p.Lys411Arg)
c.*531A>G (n.*531A>G)
14g.94378474T>GCA390847323SERPINA1c.1232A>C (p.Lys411Thr)
c.*531A>C (n.*531A>C)
14g.94378475T>ACA390847324SERPINA1c.1231A>T (p.Lys411Ter)
c.*530A>T (n.*530A>T)
14g.94378475T>CCA390847325SERPINA1c.1231A>G (p.Lys411Glu)
c.*530A>G (n.*530A>G)
14g.94378475T>GCA390847326SERPINA1c.1231A>C (p.Lys411Gln)
c.*530A>C (n.*530A>C)
14g.94378476T>ACA487621094SERPINA1c.1230A>T (p.Gly410=)
c.*529A>T (n.*529A>T)
14g.94378476T>CCA487621096SERPINA1c.1230A>G (p.Gly410=)
c.*529A>G (n.*529A>G)
14g.94378476T>GCA487621095SERPINA1c.1230A>C (p.Gly410=)
c.*529A>C (n.*529A>C)

Number of alleles fetched