Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.94382618G>ACA390849332SERPINA1c.620C>T (p.Ala207Val)
14g.94382618G>CCA390849333SERPINA1c.620C>G (p.Ala207Gly)
14g.94382618G>TCA390849335SERPINA1c.620C>A (p.Ala207Asp)
14g.94382619C>ACA390849337SERPINA1c.619G>T (p.Ala207Ser)
COSMIC
14g.94382619C>GCA390849339SERPINA1c.619G>C (p.Ala207Pro)
14g.94382619C>TCA390849340SERPINA1c.619G>A (p.Ala207Thr)
14g.94382620A>CCA390849341SERPINA1c.618T>G (p.Phe206Leu)
14g.94382620A>GCA487621878SERPINA1c.618T>C (p.Phe206=)
14g.94382620A>TCA390849342SERPINA1c.618T>A (p.Phe206Leu)
14g.94382621A>CCA390849344SERPINA1c.617T>G (p.Phe206Cys)
14g.94382621A>GCA390849346SERPINA1c.617T>C (p.Phe206Ser)
14g.94382621A>TCA390849348SERPINA1c.617T>A (p.Phe206Tyr)
gnomAD
14g.94382622A>CCA390849349SERPINA1c.616T>G (p.Phe206Val)
14g.94382622A>GCA265864096SERPINA1c.616T>C (p.Phe206Leu)
dbSNP
14g.94382622A>TCA390849351SERPINA1c.616T>A (p.Phe206Ile)
14g.94382623A>CCA487621889SERPINA1c.615T>G (p.Val205=)
14g.94382623A>GCA487621887SERPINA1c.615T>C (p.Val205=)
14g.94382623A>TCA487621888SERPINA1c.615T>A (p.Val205=)
14g.94382624A>CCA390849353SERPINA1c.614T>G (p.Val205Gly)
14g.94382624A>GCA390849355SERPINA1c.614T>C (p.Val205Ala)
14g.94382624A>TCA390849356SERPINA1c.614T>A (p.Val205Asp)
14g.94382625C>ACA390849357SERPINA1c.613G>T (p.Val205Phe)
14g.94382625C>GCA390849358SERPINA1c.613G>C (p.Val205Leu)
14g.94382625C>TCA7327461SERPINA1c.613G>A (p.Val205Ile)
dbSNP ExAC gnomAD COSMIC
14g.94382626T>ACA487621892SERPINA1c.612A>T (p.Thr204=)
14g.94382626T>CCA487621893SERPINA1c.612A>G (p.Thr204=)
14g.94382626T>GCA487621894SERPINA1c.612A>C (p.Thr204=)
14g.94382626dupCA645582237SERPINA1c.612dup (p.Val205SerfsTer11)
COSMIC
14g.94382626_94382627delCA265864097SERPINA1c.608_609del (p.Thr204SerfsTer11)
ClinVar dbSNP gnomAD
14g.94382626_94382627insACA487621895SERPINA1c.611_612insT (p.Val205SerfsTer11)
14g.94382627G>ACA390849361SERPINA1c.611C>T (p.Thr204Ile)
14g.94382627G>CCA390849360SERPINA1c.611C>G (p.Thr204Arg)
14g.94382627G>TCA390849359SERPINA1c.611C>A (p.Thr204Lys)
14g.94382628T>ACA390849362SERPINA1c.610A>T (p.Thr204Ser)
14g.94382628T>CCA390849364SERPINA1c.610A>G (p.Thr204Ala)
14g.94382628T>GCA390849363SERPINA1c.610A>C (p.Thr204Pro)
14g.94382629G>ACA487621900SERPINA1c.609C>T (p.Asp203=)
14g.94382629G>CCA265864099SERPINA1c.609C>G (p.Asp203Glu)
dbSNP COSMIC
14g.94382629G>TCA390849365SERPINA1c.609C>A (p.Asp203Glu)
14g.94382630T>ACA390849366SERPINA1c.608A>T (p.Asp203Val)
14g.94382630T>CCA390849368SERPINA1c.608A>G (p.Asp203Gly)
14g.94382630T>GCA390849367SERPINA1c.608A>C (p.Asp203Ala)
14g.94382631C>ACA390849369SERPINA1c.607G>T (p.Asp203Tyr)
14g.94382631C>GCA390849370SERPINA1c.607G>C (p.Asp203His)
14g.94382631C>TCA390849371SERPINA1c.607G>A (p.Asp203Asn)
14g.94382632T>ACA390849372SERPINA1c.606A>T (p.Arg202Ser)
14g.94382632T>CCA487621909SERPINA1c.606A>G (p.Arg202=)
14g.94382632T>GCA390849373SERPINA1c.606A>C (p.Arg202Ser)
14g.94382633C>ACA390849374SERPINA1c.605G>T (p.Arg202Ile)
14g.94382633C>GCA390849375SERPINA1c.605G>C (p.Arg202Thr)
gnomAD

Number of alleles fetched