Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
14g.94382633C>TCA7327462SERPINA1c.605G>A (p.Arg202Lys)
dbSNP ExAC gnomAD
14g.94382634T>ACA390849376SERPINA1c.604A>T (p.Arg202Ter)
14g.94382634T>CCA390849377SERPINA1c.604A>G (p.Arg202Gly)
14g.94382634T>GCA487621915SERPINA1c.604A>C (p.Arg202=)
14g.94382635G>ACA487621916SERPINA1c.603C>T (p.Asp201=)
14g.94382635G>CCA390849378SERPINA1c.603C>G (p.Asp201Glu)
14g.94382635G>TCA390849379SERPINA1c.603C>A (p.Asp201Glu)
14g.94382636T>ACA390849380SERPINA1c.602A>T (p.Asp201Val)
14g.94382636T>CCA390849382SERPINA1c.602A>G (p.Asp201Gly)
14g.94382636T>GCA390849381SERPINA1c.602A>C (p.Asp201Ala)
14g.94382637C>ACA390849383SERPINA1c.601G>T (p.Asp201Tyr)
COSMIC
14g.94382637C>GCA390849384SERPINA1c.601G>C (p.Asp201His)
14g.94382637C>TCA265864101SERPINA1c.601G>A (p.Asp201Asn)
dbSNP gnomAD
14g.94382638A>CCA487621928SERPINA1c.600T>G (p.Leu200=)
14g.94382638A>GCA7327463SERPINA1c.600T>C (p.Leu200=)
dbSNP ExAC gnomAD

Number of alleles fetched