Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.94378572delCA710093451SERPINA1c.1135del (p.Ala379ProfsTer19)
c.*434del (n.*434del)
dbSNP
14g.94378572C>ACA390847724SERPINA1c.1134G>T (p.Glu378Asp)
c.*433G>T (n.*433G>T)
14g.94378572C=CA2155953429SERPINA1c.1134G= (p.Glu378=)
c.*433G= (n.*433G=)
14g.94378572C>GCA390847725SERPINA1c.1134G>C (p.Glu378Asp)
c.*433G>C (n.*433G>C)
14g.94378572C>TCA7327266SERPINA1c.1134G>A (p.Glu378=)
c.*433G>A (n.*433G>A)
ClinVar dbSNP ExAC gnomAD
14g.94378573T>ACA390847726SERPINA1c.1133A>T (p.Glu378Val)
c.*432A>T (n.*432A>T)
14g.94378573T>CCA390847727SERPINA1c.1133A>G (p.Glu378Gly)
c.*432A>G (n.*432A>G)
14g.94378573T>GCA390847728SERPINA1c.1133A>C (p.Glu378Ala)
c.*432A>C (n.*432A>C)
14g.94378573dupCA616114986SERPINA1c.1133dup (p.Ala379GlyfsTer22)
c.*432dup (n.*432dup)
dbSNP gnomAD
14g.94378574C>ACA390847729SERPINA1c.1132G>T (p.Glu378Ter)
c.*431G>T (n.*431G>T)
14g.94378574C=CA2155953430SERPINA1c.1132G= (p.Glu378=)
c.*431G= (n.*431G=)
14g.94378574C>GCA390847730SERPINA1c.1132G>C (p.Glu378Gln)
c.*431G>C (n.*431G>C)
14g.94378574C>TCA390847731SERPINA1c.1132G>A (p.Glu378Lys)
c.*431G>A (n.*431G>A)
ClinVar
14g.94378575T>ACA127705SERPINA1c.1131A>T (p.Leu377Phe)
c.*430A>T (n.*430A>T)
ClinVar dbSNP
14g.94378575T>CCA487621150SERPINA1c.1131A>G (p.Leu377=)
c.*430A>G (n.*430A>G)
14g.94378575T>GCA390847732SERPINA1c.1131A>C (p.Leu377Phe)
c.*430A>C (n.*430A>C)
14g.94378575T=CA2155953433SERPINA1c.1131A= (p.Leu377=)
c.*430A= (n.*430A=)
14g.94378575dupCA912980010SERPINA1c.1131dup (p.Glu378ArgfsTer23)
c.*430dup (n.*430dup)
14g.94378575_94378576delinsTACA2155953431SERPINA1c.1130_1131delinsTA (p.Leu377=)
c.*429_*430delinsTA (n.*429_*430delinsTA)
14g.94378575_94378580delinsTAAAAACA2155953432SERPINA1c.1126_1131delinsTTTTTA (p.Phe376=)
c.*425_*430delinsTTTTTA (n.*425_*430delinsTTTTTA)
14g.94378576A>CCA390847733SERPINA1c.1130T>G (p.Leu377Ter)
c.*429T>G (n.*429T>G)
14g.94378576A>GCA390847734SERPINA1c.1130T>C (p.Leu377Ser)
c.*429T>C (n.*429T>C)
14g.94378576A>TCA390847735SERPINA1c.1130T>A (p.Leu377Ter)
c.*429T>A (n.*429T>A)
14g.94378576_94378580delCA616114987SERPINA1c.1126_1130del (p.Phe376ArgfsTer23)
c.*425_*429del (n.*425_*429del)
dbSNP gnomAD
14g.94378580dupCA7327268SERPINA1c.1130dup (p.Leu377PhefsTer24)
c.*429dup (n.*429dup)
ClinVar dbSNP dbSNP ExAC gnomAD
14g.94378580delCA7327267SERPINA1c.1130del (p.Leu377Ter)
c.*429del (n.*429del)
dbSNP ExAC gnomAD COSMIC
14g.94378577A>CCA390847737SERPINA1c.1129T>G (p.Leu377Val)
c.*428T>G (n.*428T>G)
14g.94378577A>GCA487621151SERPINA1c.1129T>C (p.Leu377=)
c.*428T>C (n.*428T>C)
14g.94378577A>TCA390847736SERPINA1c.1129T>A (p.Leu377Ile)
c.*428T>A (n.*428T>A)
14g.94378578A>CCA390847738SERPINA1c.1128T>G (p.Phe376Leu)
c.*427T>G (n.*427T>G)
14g.94378578A>GCA487621152SERPINA1c.1128T>C (p.Phe376=)
c.*427T>C (n.*427T>C)
14g.94378578A>TCA390847739SERPINA1c.1128T>A (p.Phe376Leu)
c.*427T>A (n.*427T>A)
14g.94378579A>CCA390847740SERPINA1c.1127T>G (p.Phe376Cys)
c.*426T>G (n.*426T>G)
14g.94378579A>GCA390847741SERPINA1c.1127T>C (p.Phe376Ser)
c.*426T>C (n.*426T>C)
14g.94378579A>TCA390847742SERPINA1c.1127T>A (p.Phe376Tyr)
c.*426T>A (n.*426T>A)
14g.94378580A=CA2155953434SERPINA1c.1126T= (p.Phe376=)
c.*425T= (n.*425T=)
14g.94378580A>CCA390847744SERPINA1c.1126T>G (p.Phe376Val)
c.*425T>G (n.*425T>G)
14g.94378580A>GCA390847743SERPINA1c.1126T>C (p.Phe376Leu)
c.*425T>C (n.*425T>C)
14g.94378580A>TCA265860653SERPINA1c.1126T>A (p.Phe376Ile)
c.*425T>A (n.*425T>A)
dbSNP
14g.94378581C>ACA390847745SERPINA1c.1125G>T (p.Met375Ile)
c.*424G>T (n.*424G>T)
14g.94378581C=CA2155953435SERPINA1c.1125G= (p.Met375=)
c.*424G= (n.*424G=)
14g.94378581C>GCA390847746SERPINA1c.1125G>C (p.Met375Ile)
c.*424G>C (n.*424G>C)
14g.94378581C>TCA390847747SERPINA1c.1125G>A (p.Met375Ile)
c.*424G>A (n.*424G>A)
14g.94378581_94378582insCTCCAGCA616114988SERPINA1c.1124_1125insCTGGAG (p.Met375delinsIleTrpArg)
c.*423_*424insCTGGAG (n.*423_*424insCTGGAG)
dbSNP gnomAD
14g.94378582A=CA2155953436SERPINA1c.1124T= (p.Met375=)
c.*423T= (n.*423T=)
14g.94378582A>CCA390847748SERPINA1c.1124T>G (p.Met375Arg)
c.*423T>G (n.*423T>G)
14g.94378582A>GCA390847749SERPINA1c.1124T>C (p.Met375Thr)
c.*423T>C (n.*423T>C)
gnomAD
14g.94378582A>TCA390847750SERPINA1c.1124T>A (p.Met375Lys)
c.*423T>A (n.*423T>A)
14g.94378583T>ACA390847751SERPINA1c.1123A>T (p.Met375Leu)
c.*422A>T (n.*422A>T)
14g.94378583T>CCA390847752SERPINA1c.1123A>G (p.Met375Val)
c.*422A>G (n.*422A>G)

Number of alleles fetched