Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.94378561A=CA2155953422SERPINA1c.1145T= (p.Met382=)
c.*444T= (p.=)
14g.94378561A>CCA127707SERPINA1c.1145T>G (p.Met382Arg)
c.*444T>G (p.=)
ClinVar dbSNP
14g.94378561A>GCA390847680SERPINA1c.1145T>C (p.Met382Thr)
c.*444T>C (p.=)
14g.94378561A>TCA390847681SERPINA1c.1145T>A (p.Met382Lys)
c.*444T>A (p.=)
14g.94378561_94378568delinsATGGGTATCA2155953423SERPINA1c.1138_1145delinsATACCCAT (p.Ile380=)
c.*437_*444delinsATACCCAT (p.=)
14g.94378562T>ACA265860645SERPINA1c.1144A>T (p.Met382Leu)
c.*443A>T (p.=)
dbSNP
14g.94378562T>CCA390847684SERPINA1c.1144A>G (p.Met382Val)
c.*443A>G (p.=)
gnomAD
14g.94378562T>GCA390847687SERPINA1c.1144A>C (p.Met382Leu)
c.*443A>C (p.=)
14g.94378562T=CA2155953424SERPINA1c.1144A= (p.Met382=)
c.*443A= (p.=)
14g.94378562_94378568delCA616114981SERPINA1c.1138_1144del (p.Ile380CysfsTer16)
c.*437_*443del (p.=)
dbSNP gnomAD
14g.94378563G>ACA487621141SERPINA1c.1143C>T (p.Pro381=)
c.*442C>T (p.=)
14g.94378563G>CCA487621142SERPINA1c.1143C>G (p.Pro381=)
c.*442C>G (p.=)
14g.94378563G>TCA487621143SERPINA1c.1143C>A (p.Pro381=)
c.*442C>A (p.=)
14g.94378564G>ACA390847690SERPINA1c.1142C>T (p.Pro381Leu)
c.*441C>T (p.=)
14g.94378564G>CCA390847692SERPINA1c.1142C>G (p.Pro381Arg)
c.*441C>G (p.=)
14g.94378564G>TCA390847694SERPINA1c.1142C>A (p.Pro381His)
c.*441C>A (p.=)
14g.94378565G>ACA390847697SERPINA1c.1141C>T (p.Pro381Ser)
c.*440C>T (p.=)
14g.94378565G>CCA390847699SERPINA1c.1141C>G (p.Pro381Ala)
c.*440C>G (p.=)
14g.94378565G>TCA390847701SERPINA1c.1141C>A (p.Pro381Thr)
c.*440C>A (p.=)
14g.94378566T>ACA487621144SERPINA1c.1140A>T (p.Ile380=)
c.*439A>T (p.=)
14g.94378566T>CCA390847704SERPINA1c.1140A>G (p.Ile380Met)
c.*439A>G (p.=)
14g.94378566T>GCA487621145SERPINA1c.1140A>C (p.Ile380=)
c.*439A>C (p.=)
14g.94378567A>CCA390847707SERPINA1c.1139T>G (p.Ile380Arg)
c.*438T>G (p.=)
14g.94378567A>GCA390847709SERPINA1c.1139T>C (p.Ile380Thr)
c.*438T>C (p.=)
14g.94378567A>TCA390847711SERPINA1c.1139T>A (p.Ile380Lys)
c.*438T>A (p.=)
14g.94378568T>ACA390847713SERPINA1c.1138A>T (p.Ile380Leu)
c.*437A>T (p.=)
14g.94378568T>CCA390847716SERPINA1c.1138A>G (p.Ile380Val)
c.*437A>G (p.=)
gnomAD
14g.94378568T>GCA390847718SERPINA1c.1138A>C (p.Ile380Leu)
c.*437A>C (p.=)
14g.94378568T=CA2155953425SERPINA1c.1138A= (p.Ile380=)
c.*437A= (p.=)
14g.94378569G>ACA487621148SERPINA1c.1137C>T (p.Ala379=)
c.*436C>T (p.=)
14g.94378569G>CCA487621147SERPINA1c.1137C>G (p.Ala379=)
c.*436C>G (p.=)
14g.94378569G>TCA487621146SERPINA1c.1137C>A (p.Ala379=)
c.*436C>A (p.=)
14g.94378570G>ACA390847719SERPINA1c.1136C>T (p.Ala379Val)
c.*435C>T (p.=)
gnomAD
14g.94378570G>CCA390847720SERPINA1c.1136C>G (p.Ala379Gly)
c.*435C>G (p.=)
14g.94378570G=CA2155953427SERPINA1c.1136C= (p.Ala379=)
c.*435C= (p.=)
14g.94378570G>TCA390847721SERPINA1c.1136C>A (p.Ala379Asp)
c.*435C>A (p.=)
ClinVar
14g.94378570_94378571delinsGCCA2155953426SERPINA1c.1135_1136delinsGC (p.Ala379=)
c.*434_*435delinsGC (p.=)
14g.94378571C>ACA390847722SERPINA1c.1135G>T (p.Ala379Ser)
c.*434G>T (p.=)
14g.94378571C=CA2155953428SERPINA1c.1135G= (p.Ala379=)
c.*434G= (p.=)
14g.94378571C>GCA390847723SERPINA1c.1135G>C (p.Ala379Pro)
c.*434G>C (p.=)
14g.94378571C>TCA7327265SERPINA1c.1135G>A (p.Ala379Thr)
c.*434G>A (p.=)
dbSNP ExAC gnomAD
14g.94378572delCA710093451SERPINA1c.1135del (p.Ala379ProfsTer19)
c.*434del (p.=)
dbSNP
14g.94378572C>ACA390847724SERPINA1c.1134G>T (p.Glu378Asp)
c.*433G>T (p.=)
14g.94378572C=CA2155953429SERPINA1c.1134G= (p.Glu378=)
c.*433G= (p.=)
14g.94378572C>GCA390847725SERPINA1c.1134G>C (p.Glu378Asp)
c.*433G>C (p.=)
14g.94378572C>TCA7327266SERPINA1c.1134G>A (p.Glu378=)
c.*433G>A (p.=)
ClinVar dbSNP ExAC gnomAD
14g.94378573T>ACA390847726SERPINA1c.1133A>T (p.Glu378Val)
c.*432A>T (p.=)
14g.94378573T>CCA390847727SERPINA1c.1133A>G (p.Glu378Gly)
c.*432A>G (p.=)
14g.94378573T>GCA390847728SERPINA1c.1133A>C (p.Glu378Ala)
c.*432A>C (p.=)
14g.94378573dupCA616114986SERPINA1c.1133dup (p.Ala379GlyfsTer22)
c.*432dup (p.=)
dbSNP gnomAD

Number of alleles fetched