Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.94378561_94378568delinsATGGGTATCA2155953423SERPINA1c.1138_1145delinsATACCCAT (p.Ile380=)
c.*437_*444delinsATACCCAT (n.*437_*444delinsATACCCAT)
14g.94378562_94378568delCA616114981SERPINA1c.1138_1144del (p.Ile380CysfsTer16)
c.*437_*443del (n.*437_*443del)
dbSNP gnomAD v2
14g.94378567A>CCA390847707SERPINA1c.1139T>G (p.Ile380Arg)
c.*438T>G (n.*438T>G)
14g.94378567A>GCA390847709SERPINA1c.1139T>C (p.Ile380Thr)
c.*438T>C (n.*438T>C)
ClinVar
14g.94378567A>TCA390847711SERPINA1c.1139T>A (p.Ile380Lys)
c.*438T>A (n.*438T>A)
14g.94378568T>ACA390847713SERPINA1c.1138A>T (p.Ile380Leu)
c.*437A>T (n.*437A>T)
14g.94378568T>CCA390847716SERPINA1c.1138A>G (p.Ile380Val)
c.*437A>G (n.*437A>G)
dbSNP gnomAD v2 gnomAD v4
14g.94378568T>GCA390847718SERPINA1c.1138A>C (p.Ile380Leu)
c.*437A>C (n.*437A>C)
14g.94378568T=CA2155953425SERPINA1c.1138A= (p.Ile380=)
c.*437A= (n.*437A=)
14g.94378569G>ACA487621148SERPINA1c.1137C>T (p.Ala379=)
c.*436C>T (n.*436C>T)
14g.94378569G>CCA487621147SERPINA1c.1137C>G (p.Ala379=)
c.*436C>G (n.*436C>G)
14g.94378569G>TCA487621146SERPINA1c.1137C>A (p.Ala379=)
c.*436C>A (n.*436C>A)
14g.94378570G>ACA390847719SERPINA1c.1136C>T (p.Ala379Val)
c.*435C>T (n.*435C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94378570G>CCA390847720SERPINA1c.1136C>G (p.Ala379Gly)
c.*435C>G (n.*435C>G)
14g.94378570G=CA2155953427SERPINA1c.1136C= (p.Ala379=)
c.*435C= (n.*435C=)
14g.94378570G>TCA390847721SERPINA1c.1136C>A (p.Ala379Asp)
c.*435C>A (n.*435C>A)
ClinVar dbSNP gnomAD v4
14g.94378570_94378571delinsGCCA2155953426SERPINA1c.1135_1136delinsGC (p.Ala379=)
c.*434_*435delinsGC (n.*434_*435delinsGC)
14g.94378571C>ACA390847722SERPINA1c.1135G>T (p.Ala379Ser)
c.*434G>T (n.*434G>T)
gnomAD v4
14g.94378571C=CA2155953428SERPINA1c.1135G= (p.Ala379=)
c.*434G= (n.*434G=)
14g.94378571C>GCA390847723SERPINA1c.1135G>C (p.Ala379Pro)
c.*434G>C (n.*434G>C)
14g.94378571C>TCA7327265SERPINA1c.1135G>A (p.Ala379Thr)
c.*434G>A (n.*434G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.94378572delCA710093451SERPINA1c.1135del (p.Ala379ProfsTer19)
c.*434del (n.*434del)
dbSNP gnomAD v3 gnomAD v4
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 v2 gnomAD v3 gnomAD v4
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 v2
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 dbSNP
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)
gnomAD v4
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 v2
14g.94378580dupCA7327268SERPINA1c.1130dup (p.Leu377PhefsTer24)
c.*429dup (n.*429dup)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.94378580delCA7327267SERPINA1c.1130del (p.Leu377Ter)
c.*429del (n.*429del)
dbSNP ExAC gnomAD v2 gnomAD v4 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)

Number of alleles fetched