Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.94382625_94382626delCA2695219659SERPINA1c.612_613del (p.Val205PhefsTer10)
14g.94382625_94382627delinsCTGCA2155954709SERPINA1c.611_613delinsCAG (p.Thr204=)
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.94382629_94382630delCA265864097SERPINA1c.611_612del (p.Thr204SerfsTer11)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
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=CA2155954710SERPINA1c.609C= (p.Asp203=)
14g.94382629G>TCA390849365SERPINA1c.609C>A (p.Asp203Glu)
14g.94382630T>ACA390849366SERPINA1c.608A>T (p.Asp203Val)
14g.94382630T>CCA390849368SERPINA1c.608A>G (p.Asp203Gly)
gnomAD v4
14g.94382630T>GCA390849367SERPINA1c.608A>C (p.Asp203Ala)
14g.94382633_94382634delCA2580612789SERPINA1c.607_608del (p.Asp203HisfsTer12)
dbSNP
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=CA2155954711SERPINA1c.605G= (p.Arg202=)
14g.94382633C>GCA390849375SERPINA1c.605G>C (p.Arg202Thr)
dbSNP gnomAD v2 gnomAD v4
14g.94382633C>TCA7327462SERPINA1c.605G>A (p.Arg202Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
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)
dbSNP
14g.94382635G=CA2155954712SERPINA1c.603C= (p.Asp201=)
14g.94382635G>TCA390849379SERPINA1c.603C>A (p.Asp201Glu)
gnomAD v4
14g.94382636T>ACA390849380SERPINA1c.602A>T (p.Asp201Val)
14g.94382636T>CCA390849382SERPINA1c.602A>G (p.Asp201Gly)
dbSNP
14g.94382636T>GCA390849381SERPINA1c.602A>C (p.Asp201Ala)
14g.94382636T=CA2155954713SERPINA1c.602A= (p.Asp201=)
14g.94382636_94382637insGTCTCTCTCA2695219660SERPINA1c.602_603insGAGAGACA (p.Asp201GlufsTer12)
14g.94382637C>ACA390849383SERPINA1c.601G>T (p.Asp201Tyr)
COSMIC
14g.94382637C=CA2155954714SERPINA1c.601G= (p.Asp201=)
14g.94382637C>GCA390849384SERPINA1c.601G>C (p.Asp201His)
14g.94382637C>TCA265864101SERPINA1c.601G>A (p.Asp201Asn)
dbSNP gnomAD v2 gnomAD v4
14g.94382638A=CA2155954715SERPINA1c.600T= (p.Leu200=)
14g.94382638A>CCA487621928SERPINA1c.600T>G (p.Leu200=)

Number of alleles fetched