Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.94378456_94378504delCA2695219652SERPINA1c.1208_1256del (p.Thr403AsnfsTer?)
c.1208_1256del (p.Thr403=)
c.*507_*555del (n.*507_*555del)
14g.94378490delCA2626279418SERPINA1c.1219del (p.Leu407SerfsTer7)
c.*518del (n.*518del)
gnomAD v4
14g.94378490G>ACA390847391SERPINA1c.1216C>T (p.Pro406Ser)
c.*515C>T (n.*515C>T)
COSMIC
14g.94378490G>CCA390847392SERPINA1c.1216C>G (p.Pro406Ala)
c.*515C>G (n.*515C>G)
14g.94378490G=CA2155953381SERPINA1c.1216C= (p.Pro406=)
c.*515C= (n.*515C=)
14g.94378490G>TCA7327249SERPINA1c.1216C>A (p.Pro406Thr)
c.*515C>A (n.*515C>A)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.94378491A>CCA487621103SERPINA1c.1215T>G (p.Ser405=)
c.*514T>G (n.*514T>G)
14g.94378491A>GCA487621104SERPINA1c.1215T>C (p.Ser405=)
c.*514T>C (n.*514T>C)
14g.94378491A>TCA487621105SERPINA1c.1215T>A (p.Ser405=)
c.*514T>A (n.*514T>A)
14g.94378492G>ACA390847396SERPINA1c.1214C>T (p.Ser405Phe)
c.*513C>T (n.*513C>T)
dbSNP
14g.94378492G>CCA390847400SERPINA1c.1214C>G (p.Ser405Cys)
c.*513C>G (n.*513C>G)
14g.94378492G=CA2155953382SERPINA1c.1214C= (p.Ser405=)
c.*513C= (n.*513C=)
14g.94378492G>TCA265860597SERPINA1c.1214C>A (p.Ser405Tyr)
c.*513C>A (n.*513C>A)
dbSNP gnomAD v3 gnomAD v4
14g.94378493A>CCA390847403SERPINA1c.1213T>G (p.Ser405Ala)
c.*512T>G (n.*512T>G)
14g.94378493A>GCA390847407SERPINA1c.1213T>C (p.Ser405Pro)
c.*512T>C (n.*512T>C)
14g.94378493A>TCA390847405SERPINA1c.1213T>A (p.Ser405Thr)
c.*512T>A (n.*512T>A)
14g.94378494C>ACA390847408SERPINA1c.1212G>T (p.Lys404Asn)
c.*511G>T (n.*511G>T)
dbSNP
14g.94378494C>GCA390847409SERPINA1c.1212G>C (p.Lys404Asn)
c.*511G>C (n.*511G>C)
gnomAD v4
14g.94378494C>TCA487621106SERPINA1c.1212G>A (p.Lys404=)
c.*511G>A (n.*511G>A)
14g.94378495T>ACA390847411SERPINA1c.1211A>T (p.Lys404Met)
c.*510A>T (n.*510A>T)
14g.94378495T>CCA7327250SERPINA1c.1211A>G (p.Lys404Arg)
c.*510A>G (n.*510A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94378495T>GCA265860599SERPINA1c.1211A>C (p.Lys404Thr)
c.*510A>C (n.*510A>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94378495T=CA2155953383SERPINA1c.1211A= (p.Lys404=)
c.*510A= (n.*510A=)
14g.94378496T>ACA390847420SERPINA1c.1210A>T (p.Lys404Ter)
c.*509A>T (n.*509A>T)
14g.94378496T>CCA390847418SERPINA1c.1210A>G (p.Lys404Glu)
c.*509A>G (n.*509A>G)
14g.94378496T>GCA390847416SERPINA1c.1210A>C (p.Lys404Gln)
c.*509A>C (n.*509A>C)
14g.94378497G>ACA487621107SERPINA1c.1209C>T (p.Thr403=)
c.*508C>T (n.*508C>T)
14g.94378497G>CCA487621108SERPINA1c.1209C>G (p.Thr403=)
c.*508C>G (n.*508C>G)
14g.94378497G>TCA487621109SERPINA1c.1209C>A (p.Thr403=)
c.*508C>A (n.*508C>A)
gnomAD v4
14g.94378498G>ACA350154SERPINA1c.1208C>T (p.Thr403Ile)
c.*507C>T (n.*507C>T)
ClinVar dbSNP gnomAD v4
14g.94378498G>CCA7327251SERPINA1c.1208C>G (p.Thr403Ser)
c.*507C>G (n.*507C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.94378498G=CA2155953384SERPINA1c.1208C= (p.Thr403=)
c.*507C= (n.*507C=)
14g.94378498G>TCA390847425SERPINA1c.1208C>A (p.Thr403Asn)
c.*507C>A (n.*507C>A)
dbSNP
14g.94378499T>ACA390847428SERPINA1c.1207A>T (p.Thr403Ser)
c.*506A>T (n.*506A>T)
14g.94378499T>CCA390847430SERPINA1c.1207A>G (p.Thr403Ala)
c.*506A>G (n.*506A>G)
dbSNP gnomAD v4
14g.94378499T>GCA390847432SERPINA1c.1207A>C (p.Thr403Pro)
c.*506A>C (n.*506A>C)
14g.94378499T=CA2155953385SERPINA1c.1207A= (p.Thr403=)
c.*506A= (n.*506A=)
14g.94378500A=CA2155953387SERPINA1c.1206T= (p.Asn402=)
c.*505T= (n.*505T=)
14g.94378500A>CCA390847435SERPINA1c.1206T>G (p.Asn402Lys)
c.*505T>G (n.*505T>G)
14g.94378500A>GCA7327252SERPINA1c.1206T>C (p.Asn402=)
c.*505T>C (n.*505T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94378500A>TCA390847437SERPINA1c.1206T>A (p.Asn402Lys)
c.*505T>A (n.*505T>A)
14g.94378500_94378501delinsATCA2155953386SERPINA1c.1205_1206delinsAT (p.Asn402=)
c.*504_*505delinsAT (n.*504_*505delinsAT)
14g.94378501T>ACA390847442SERPINA1c.1205A>T (p.Asn402Ile)
c.*504A>T (n.*504A>T)
14g.94378501T>CCA390847445SERPINA1c.1205A>G (p.Asn402Ser)
c.*504A>G (n.*504A>G)
14g.94378501T>GCA390847447SERPINA1c.1205A>C (p.Asn402Thr)
c.*504A>C (n.*504A>C)
14g.94378504delCA616114972SERPINA1c.1205del (p.Asn402IlefsTer12)
c.*504del (n.*504del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94378502T>ACA390847449SERPINA1c.1204A>T (p.Asn402Tyr)
c.*503A>T (n.*503A>T)
14g.94378502T>CCA390847452SERPINA1c.1204A>G (p.Asn402Asp)
c.*503A>G (n.*503A>G)
14g.94378502T>GCA390847454SERPINA1c.1204A>C (p.Asn402His)
c.*503A>C (n.*503A>C)
14g.94378503T>ACA390847457SERPINA1c.1203A>T (p.Gln401His)
c.*502A>T (n.*502A>T)

Number of alleles fetched