Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.94382667C>ACA390849449SERPINA1c.571G>T (p.Gly191Trp)
c.313G>T (p.Gly105Trp)
14g.94382667C>GCA390849450SERPINA1c.571G>C (p.Gly191Arg)
c.313G>C (p.Gly105Arg)
14g.94382667C>TCA390849451SERPINA1c.571G>A (p.Gly191Arg)
c.313G>A (p.Gly105Arg)
14g.94382668T>ACA390849452SERPINA1c.570A>T (p.Gln190His)
c.312A>T (p.Gln104His)
14g.94382668T>CCA487621994SERPINA1c.570A>G (p.Gln190=)
c.312A>G (p.Gln104=)
14g.94382668T>GCA390849453SERPINA1c.570A>C (p.Gln190His)
c.312A>C (p.Gln104His)
14g.94382669T>ACA390849456SERPINA1c.569A>T (p.Gln190Leu)
c.311A>T (p.Gln104Leu)
14g.94382669T>CCA390849455SERPINA1c.569A>G (p.Gln190Arg)
c.311A>G (p.Gln104Arg)
14g.94382669T>GCA390849454SERPINA1c.569A>C (p.Gln190Pro)
c.311A>C (p.Gln104Pro)
gnomAD
14g.94382670G>ACA390849457SERPINA1c.568C>T (p.Gln190Ter)
c.310C>T (p.Gln104Ter)
14g.94382670G>CCA390849458SERPINA1c.568C>G (p.Gln190Glu)
c.310C>G (p.Gln104Glu)
14g.94382670G>TCA390849459SERPINA1c.568C>A (p.Gln190Lys)
c.310C>A (p.Gln104Lys)
14g.94382671A>CCA487622002SERPINA1c.567T>G (p.Thr189=)
c.309T>G (p.Thr103=)
14g.94382671A>GCA487622000SERPINA1c.567T>C (p.Thr189=)
c.309T>C (p.Thr103=)
14g.94382671A>TCA487622001SERPINA1c.567T>A (p.Thr189=)
c.309T>A (p.Thr103=)
14g.94382672G>ACA390849460SERPINA1c.566C>T (p.Thr189Ile)
c.308C>T (p.Thr103Ile)
14g.94382672G>CCA390849461SERPINA1c.566C>G (p.Thr189Ser)
c.308C>G (p.Thr103Ser)
14g.94382672G>TCA390849462SERPINA1c.566C>A (p.Thr189Asn)
c.308C>A (p.Thr103Asn)
14g.94382673T>ACA390849463SERPINA1c.565A>T (p.Thr189Ser)
c.307A>T (p.Thr103Ser)
14g.94382673T>CCA390849465SERPINA1c.565A>G (p.Thr189Ala)
c.307A>G (p.Thr103Ala)
14g.94382673T>GCA390849464SERPINA1c.565A>C (p.Thr189Pro)
c.307A>C (p.Thr103Pro)
14g.94382674A>CCA487622008SERPINA1c.564T>G (p.Gly188=)
c.306T>G (p.Gly102=)
14g.94382674A>GCA487622010SERPINA1c.564T>C (p.Gly188=)
c.306T>C (p.Gly102=)
14g.94382674A>TCA7327468SERPINA1c.564T>A (p.Gly188=)
c.306T>A (p.Gly102=)
dbSNP ExAC
14g.94382675C>ACA390849466SERPINA1c.563G>T (p.Gly188Val)
c.305G>T (p.Gly102Val)
14g.94382675C>GCA390849467SERPINA1c.563G>C (p.Gly188Ala)
c.305G>C (p.Gly102Ala)
14g.94382675C>TCA390849468SERPINA1c.563G>A (p.Gly188Asp)
c.305G>A (p.Gly102Asp)
COSMIC
14g.94382676C>ACA390849469SERPINA1c.562G>T (p.Gly188Cys)
c.304G>T (p.Gly102Cys)
14g.94382676C>GCA390849470SERPINA1c.562G>C (p.Gly188Arg)
c.304G>C (p.Gly102Arg)
14g.94382676C>TCA7327469SERPINA1c.562G>A (p.Gly188Ser)
c.304G>A (p.Gly102Ser)
dbSNP ExAC gnomAD
14g.94382677C>ACA390849471SERPINA1c.561G>T (p.Lys187Asn)
c.303G>T (p.Lys101Asn)
14g.94382677C>GCA390849472SERPINA1c.561G>C (p.Lys187Asn)
c.303G>C (p.Lys101Asn)
14g.94382677C>TCA487622014SERPINA1c.561G>A (p.Lys187=)
c.303G>A (p.Lys101=)
14g.94382678T>ACA390849473SERPINA1c.560A>T (p.Lys187Met)
c.302A>T (p.Lys101Met)
14g.94382678T>CCA390849474SERPINA1c.560A>G (p.Lys187Arg)
c.302A>G (p.Lys101Arg)
gnomAD
14g.94382678T>GCA7327470SERPINA1c.560A>C (p.Lys187Thr)
c.302A>C (p.Lys101Thr)
dbSNP ExAC gnomAD
14g.94382679T>ACA390849476SERPINA1c.559A>T (p.Lys187Ter)
c.301A>T (p.Lys101Ter)
14g.94382679T>CCA390849477SERPINA1c.559A>G (p.Lys187Glu)
c.301A>G (p.Lys101Glu)
14g.94382679T>GCA390849475SERPINA1c.559A>C (p.Lys187Gln)
c.301A>C (p.Lys101Gln)
14g.94382680C>ACA390849479SERPINA1c.558G>T (p.Glu186Asp)
c.300G>T (p.Glu100Asp)
14g.94382680C>GCA390849478SERPINA1c.558G>C (p.Glu186Asp)
c.300G>C (p.Glu100Asp)
14g.94382680C>TCA487622018SERPINA1c.558G>A (p.Glu186=)
c.300G>A (p.Glu100=)
14g.94382681T>ACA390849481SERPINA1c.557A>T (p.Glu186Val)
c.299A>T (p.Glu100Val)
14g.94382681T>CCA265864104SERPINA1c.557A>G (p.Glu186Gly)
c.299A>G (p.Glu100Gly)
dbSNP
14g.94382681T>GCA390849480SERPINA1c.557A>C (p.Glu186Ala)
c.299A>C (p.Glu100Ala)
14g.94382682C>ACA390849482SERPINA1c.556G>T (p.Glu186Ter)
c.298G>T (p.Glu100Ter)
14g.94382682C>GCA390849483SERPINA1c.556G>C (p.Glu186Gln)
c.298G>C (p.Glu100Gln)
14g.94382682C>TCA390849484SERPINA1c.556G>A (p.Glu186Lys)
c.298G>A (p.Glu100Lys)
gnomAD
14g.94382683C>ACA487622019SERPINA1c.555G>T (p.Val185=)
c.297G>T (p.Val99=)
14g.94382683C>GCA487622020SERPINA1c.555G>C (p.Val185=)
c.297G>C (p.Val99=)

Number of alleles fetched