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.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)
14g.94378503T>CCA487621110SERPINA1c.1203A>G (p.Gln401=)
c.*502A>G (n.*502A>G)
14g.94378503T>GCA390847459SERPINA1c.1203A>C (p.Gln401His)
c.*502A>C (n.*502A>C)
14g.94378504T>ACA390847462SERPINA1c.1202A>T (p.Gln401Leu)
c.*501A>T (n.*501A>T)
14g.94378504T>CCA390847464SERPINA1c.1202A>G (p.Gln401Arg)
c.*501A>G (n.*501A>G)
 gnomAD v4
14g.94378504T>GCA390847466SERPINA1c.1202A>C (p.Gln401Pro)
c.*501A>C (n.*501A>C)
 dbSNP
14g.94378504T=CA2155953389SERPINA1c.1202A= (p.Gln401=)
c.*501A= (n.*501A=)
14g.94378504_94378505delinsTGCA2155953388SERPINA1c.1201_1202delinsCA (p.Gln401=)
c.*500_*501delinsCA (n.*500_*501delinsCA)
14g.94378505delCA265860605SERPINA1c.1201del (p.Gln401LysfsTer13)
c.*500del (n.*500del)
 dbSNP
14g.94378505G>ACA390847470SERPINA1c.1201C>T (p.Gln401Ter)
c.*500C>T (n.*500C>T)
14g.94378505G>CCA390847473SERPINA1c.1201C>G (p.Gln401Glu)
c.*500C>G (n.*500C>G)
14g.94378505G=CA2155953390SERPINA1c.1201C= (p.Gln401=)
c.*500C= (n.*500C=)
14g.94378505G>TCA265860607SERPINA1c.1201C>A (p.Gln401Lys)
c.*500C>A (n.*500C>A)
 dbSNP
14g.94378505_94378506delinsGTCA2155953391SERPINA1c.1200_1201delinsAC (p.Glu400=)
c.*499_*500delinsAC (n.*499_*500delinsAC)
14g.94378506T>ACA390847475SERPINA1c.1200A>T (p.Glu400Asp)
c.*499A>T (n.*499A>T)
14g.94378506T>CCA487621111SERPINA1c.1200A>G (p.Glu400=)
c.*499A>G (n.*499A>G)
 dbSNP
14g.94378506T>GCA127624SERPINA1c.1200A>C (p.Glu400Asp)
c.*499A>C (n.*499A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94378506T=CA2155953392SERPINA1c.1200A= (p.Glu400=)
c.*499A= (n.*499A=)
14g.94378507delCA265860608SERPINA1c.1200del (p.Glu400AspfsTer14)
c.*499del (n.*499del)
 dbSNP
14g.94378506_94378507insGCA616114973SERPINA1c.1199_1200insC (p.Glu400AspfsTer?)
c.*498_*499insC (n.*498_*499insC)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94378507T>ACA390847479SERPINA1c.1199A>T (p.Glu400Val)
c.*498A>T (n.*498A>T)
14g.94378507T>CCA390847482SERPINA1c.1199A>G (p.Glu400Gly)
c.*498A>G (n.*498A>G)
 dbSNP gnomAD v2 gnomAD v4
14g.94378507T>GCA390847484SERPINA1c.1199A>C (p.Glu400Ala)
c.*498A>C (n.*498A>C)
 gnomAD v4
14g.94378507T=CA2155953393SERPINA1c.1199A= (p.Glu400=)
c.*498A= (n.*498A=)
14g.94378508C>ACA390847487SERPINA1c.1198G>T (p.Glu400Ter)
c.*497G>T (n.*497G>T)
14g.94378508C>GCA390847489SERPINA1c.1198G>C (p.Glu400Gln)
c.*497G>C (n.*497G>C)
14g.94378508C>TCA390847491SERPINA1c.1198G>A (p.Glu400Lys)
c.*497G>A (n.*497G>A)
 gnomAD v4
14g.94378509A>CCA390847492SERPINA1c.1197T>G (p.Ile399Met)
c.*496T>G (n.*496T>G)
14g.94378509A>GCA487621112SERPINA1c.1197T>C (p.Ile399=)
c.*496T>C (n.*496T>C)
 gnomAD v4
14g.94378509A>TCA487621113SERPINA1c.1197T>A (p.Ile399=)
c.*496T>A (n.*496T>A)
14g.94378510A=CA2155953394SERPINA1c.1196T= (p.Ile399=)
c.*495T= (n.*495T=)
14g.94378510A>CCA390847494SERPINA1c.1196T>G (p.Ile399Ser)
c.*495T>G (n.*495T>G)
14g.94378510A>GCA7327253SERPINA1c.1196T>C (p.Ile399Thr)
c.*495T>C (n.*495T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94378510A>TCA390847497SERPINA1c.1196T>A (p.Ile399Asn)
c.*495T>A (n.*495T>A)
14g.94378511T>ACA390847504SERPINA1c.1195A>T (p.Ile399Phe)
c.*494A>T (n.*494A>T)
14g.94378511T>CCA265860611SERPINA1c.1195A>G (p.Ile399Val)
c.*494A>G (n.*494A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94378511T>GCA390847502SERPINA1c.1195A>C (p.Ile399Leu)
c.*494A>C (n.*494A>C)

Number of alleles fetched