Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.174750027G>ACA430022313CHRNA1c.432C>T (p.Ala144=)
c.996C>T (p.Ala332=)
c.921C>T (p.Ala307=)
c.675C>T (p.Ala225=)
c.*565C>T (n.*565C>T)
c.1017C>T (p.Ala339=)
c.942C>T (p.Ala314=)
2g.174750027G>CCA430022314CHRNA1c.432C>G (p.Ala144=)
c.996C>G (p.Ala332=)
c.921C>G (p.Ala307=)
c.675C>G (p.Ala225=)
c.*565C>G (n.*565C>G)
c.1017C>G (p.Ala339=)
c.942C>G (p.Ala314=)
 dbSNP gnomAD v4
2g.174750027G=CA1308832535CHRNA1c.432C= (p.Ala144=)
c.996C= (p.Ala332=)
c.921C= (p.Ala307=)
c.675C= (p.Ala225=)
c.*565C= (n.*565C=)
c.1017C= (p.Ala339=)
c.942C= (p.Ala314=)
2g.174750027G>TCA430022315CHRNA1c.432C>A (p.Ala144=)
c.996C>A (p.Ala332=)
c.921C>A (p.Ala307=)
c.675C>A (p.Ala225=)
c.*565C>A (n.*565C>A)
c.1017C>A (p.Ala339=)
c.942C>A (p.Ala314=)
2g.174750028G>ACA349336320CHRNA1c.431C>T (p.Ala144Val)
c.995C>T (p.Ala332Val)
c.920C>T (p.Ala307Val)
c.674C>T (p.Ala225Val)
c.*564C>T (n.*564C>T)
c.1016C>T (p.Ala339Val)
c.941C>T (p.Ala314Val)
2g.174750028G>CCA349336323CHRNA1c.431C>G (p.Ala144Gly)
c.995C>G (p.Ala332Gly)
c.920C>G (p.Ala307Gly)
c.674C>G (p.Ala225Gly)
c.*564C>G (n.*564C>G)
c.1016C>G (p.Ala339Gly)
c.941C>G (p.Ala314Gly)
2g.174750028G>TCA349336321CHRNA1c.431C>A (p.Ala144Asp)
c.995C>A (p.Ala332Asp)
c.920C>A (p.Ala307Asp)
c.674C>A (p.Ala225Asp)
c.*564C>A (n.*564C>A)
c.1016C>A (p.Ala339Asp)
c.941C>A (p.Ala314Asp)
2g.174750029C>ACA349336325CHRNA1c.430G>T (p.Ala144Ser)
c.994G>T (p.Ala332Ser)
c.919G>T (p.Ala307Ser)
c.673G>T (p.Ala225Ser)
c.*563G>T (n.*563G>T)
c.1015G>T (p.Ala339Ser)
c.940G>T (p.Ala314Ser)
2g.174750029C=CA1308832536CHRNA1c.430G= (p.Ala144=)
c.994G= (p.Ala332=)
c.919G= (p.Ala307=)
c.673G= (p.Ala225=)
c.*563G= (n.*563G=)
c.1015G= (p.Ala339=)
c.940G= (p.Ala314=)
2g.174750029C>GCA349336326CHRNA1c.430G>C (p.Ala144Pro)
c.994G>C (p.Ala332Pro)
c.919G>C (p.Ala307Pro)
c.673G>C (p.Ala225Pro)
c.*563G>C (n.*563G>C)
c.1015G>C (p.Ala339Pro)
c.940G>C (p.Ala314Pro)
2g.174750029C>TCA1974425CHRNA1c.430G>A (p.Ala144Thr)
c.994G>A (p.Ala332Thr)
c.919G>A (p.Ala307Thr)
c.673G>A (p.Ala225Thr)
c.*563G>A (n.*563G>A)
c.1015G>A (p.Ala339Thr)
c.940G>A (p.Ala314Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.174750030A>CCA349336328CHRNA1c.429T>G (p.Ile143Met)
c.993T>G (p.Ile331Met)
c.918T>G (p.Ile306Met)
c.672T>G (p.Ile224Met)
c.*562T>G (n.*562T>G)
c.1014T>G (p.Ile338Met)
c.939T>G (p.Ile313Met)
2g.174750030A>GCA430022317CHRNA1c.429T>C (p.Ile143=)
c.993T>C (p.Ile331=)
c.918T>C (p.Ile306=)
c.672T>C (p.Ile224=)
c.*562T>C (n.*562T>C)
c.1014T>C (p.Ile338=)
c.939T>C (p.Ile313=)
2g.174750030A>TCA430022316CHRNA1c.429T>A (p.Ile143=)
c.993T>A (p.Ile331=)
c.918T>A (p.Ile306=)
c.672T>A (p.Ile224=)
c.*562T>A (n.*562T>A)
c.1014T>A (p.Ile338=)
c.939T>A (p.Ile313=)
2g.174750031A>CCA349336331CHRNA1c.428T>G (p.Ile143Ser)
c.992T>G (p.Ile331Ser)
c.917T>G (p.Ile306Ser)
c.671T>G (p.Ile224Ser)
c.*561T>G (n.*561T>G)
c.1013T>G (p.Ile338Ser)
c.938T>G (p.Ile313Ser)
2g.174750031A>GCA349336330CHRNA1c.428T>C (p.Ile143Thr)
c.992T>C (p.Ile331Thr)
c.917T>C (p.Ile306Thr)
c.671T>C (p.Ile224Thr)
c.*561T>C (n.*561T>C)
c.1013T>C (p.Ile338Thr)
c.938T>C (p.Ile313Thr)
 gnomAD v4
2g.174750031A>TCA349336329CHRNA1c.428T>A (p.Ile143Asn)
c.992T>A (p.Ile331Asn)
c.917T>A (p.Ile306Asn)
c.671T>A (p.Ile224Asn)
c.*561T>A (n.*561T>A)
c.1013T>A (p.Ile338Asn)
c.938T>A (p.Ile313Asn)
2g.174750032T>ACA349336332CHRNA1c.427A>T (p.Ile143Phe)
c.991A>T (p.Ile331Phe)
c.916A>T (p.Ile306Phe)
c.670A>T (p.Ile224Phe)
c.*560A>T (n.*560A>T)
c.1012A>T (p.Ile338Phe)
c.937A>T (p.Ile313Phe)
2g.174750032T>CCA349336333CHRNA1c.427A>G (p.Ile143Val)
c.991A>G (p.Ile331Val)
c.916A>G (p.Ile306Val)
c.670A>G (p.Ile224Val)
c.*560A>G (n.*560A>G)
c.1012A>G (p.Ile338Val)
c.937A>G (p.Ile313Val)
 dbSNP gnomAD v4
2g.174750032T>GCA349336334CHRNA1c.427A>C (p.Ile143Leu)
c.991A>C (p.Ile331Leu)
c.916A>C (p.Ile306Leu)
c.670A>C (p.Ile224Leu)
c.*560A>C (n.*560A>C)
c.1012A>C (p.Ile338Leu)
c.937A>C (p.Ile313Leu)
 gnomAD v4
2g.174750032T=CA1308832537CHRNA1c.427A= (p.Ile143=)
c.991A= (p.Ile331=)
c.916A= (p.Ile306=)
c.670A= (p.Ile224=)
c.*560A= (n.*560A=)
c.1012A= (p.Ile338=)
c.937A= (p.Ile313=)
2g.174750033G>ACA430022322CHRNA1c.426C>T (p.Val142=)
c.990C>T (p.Val330=)
c.915C>T (p.Val305=)
c.669C>T (p.Val223=)
c.*559C>T (n.*559C>T)
c.1011C>T (p.Val337=)
c.936C>T (p.Val312=)
2g.174750033G>CCA430022319CHRNA1c.426C>G (p.Val142=)
c.990C>G (p.Val330=)
c.915C>G (p.Val305=)
c.669C>G (p.Val223=)
c.*559C>G (n.*559C>G)
c.1011C>G (p.Val337=)
c.936C>G (p.Val312=)
2g.174750033G>TCA430022318CHRNA1c.426C>A (p.Val142=)
c.990C>A (p.Val330=)
c.915C>A (p.Val305=)
c.669C>A (p.Val223=)
c.*559C>A (n.*559C>A)
c.1011C>A (p.Val337=)
c.936C>A (p.Val312=)
2g.174750034A>CCA349336336CHRNA1c.425T>G (p.Val142Gly)
c.989T>G (p.Val330Gly)
c.914T>G (p.Val305Gly)
c.668T>G (p.Val223Gly)
c.*558T>G (n.*558T>G)
c.1010T>G (p.Val337Gly)
c.935T>G (p.Val312Gly)
2g.174750034A>GCA349336338CHRNA1c.425T>C (p.Val142Ala)
c.989T>C (p.Val330Ala)
c.914T>C (p.Val305Ala)
c.668T>C (p.Val223Ala)
c.*558T>C (n.*558T>C)
c.1010T>C (p.Val337Ala)
c.935T>C (p.Val312Ala)
2g.174750034A>TCA349336339CHRNA1c.425T>A (p.Val142Asp)
c.989T>A (p.Val330Asp)
c.914T>A (p.Val305Asp)
c.668T>A (p.Val223Asp)
c.*558T>A (n.*558T>A)
c.1010T>A (p.Val337Asp)
c.935T>A (p.Val312Asp)
2g.174750035C>ACA349336346CHRNA1c.424G>T (p.Val142Phe)
c.988G>T (p.Val330Phe)
c.913G>T (p.Val305Phe)
c.667G>T (p.Val223Phe)
c.*557G>T (n.*557G>T)
c.1009G>T (p.Val337Phe)
c.934G>T (p.Val312Phe)
2g.174750035C=CA1308832538CHRNA1c.424G= (p.Val142=)
c.988G= (p.Val330=)
c.913G= (p.Val305=)
c.667G= (p.Val223=)
c.*557G= (n.*557G=)
c.1009G= (p.Val337=)
c.934G= (p.Val312=)
2g.174750035C>GCA349336343CHRNA1c.424G>C (p.Val142Leu)
c.988G>C (p.Val330Leu)
c.913G>C (p.Val305Leu)
c.667G>C (p.Val223Leu)
c.*557G>C (n.*557G>C)
c.1009G>C (p.Val337Leu)
c.934G>C (p.Val312Leu)
2g.174750035C>TCA128076CHRNA1c.424G>A (p.Val142Ile)
c.988G>A (p.Val330Ile)
c.913G>A (p.Val305Ile)
c.667G>A (p.Val223Ile)
c.*557G>A (n.*557G>A)
c.1009G>A (p.Val337Ile)
c.934G>A (p.Val312Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.174750036G>ACA1974426CHRNA1c.423C>T (p.Phe141=)
c.987C>T (p.Phe329=)
c.912C>T (p.Phe304=)
c.666C>T (p.Phe222=)
c.*556C>T (n.*556C>T)
c.1008C>T (p.Phe336=)
c.933C>T (p.Phe311=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.174750036G>CCA349336350CHRNA1c.423C>G (p.Phe141Leu)
c.987C>G (p.Phe329Leu)
c.912C>G (p.Phe304Leu)
c.666C>G (p.Phe222Leu)
c.*556C>G (n.*556C>G)
c.1008C>G (p.Phe336Leu)
c.933C>G (p.Phe311Leu)
2g.174750036G=CA1308832539CHRNA1c.423C= (p.Phe141=)
c.987C= (p.Phe329=)
c.912C= (p.Phe304=)
c.666C= (p.Phe222=)
c.*556C= (n.*556C=)
c.1008C= (p.Phe336=)
c.933C= (p.Phe311=)
2g.174750036G>TCA349336355CHRNA1c.423C>A (p.Phe141Leu)
c.987C>A (p.Phe329Leu)
c.912C>A (p.Phe304Leu)
c.666C>A (p.Phe222Leu)
c.*556C>A (n.*556C>A)
c.1008C>A (p.Phe336Leu)
c.933C>A (p.Phe311Leu)
2g.174750037A=CA1308832540CHRNA1c.422T= (p.Phe141=)
c.986T= (p.Phe329=)
c.911T= (p.Phe304=)
c.665T= (p.Phe222=)
c.*555T= (n.*555T=)
c.1007T= (p.Phe336=)
c.932T= (p.Phe311=)
2g.174750037A>CCA349336358CHRNA1c.422T>G (p.Phe141Cys)
c.986T>G (p.Phe329Cys)
c.911T>G (p.Phe304Cys)
c.665T>G (p.Phe222Cys)
c.*555T>G (n.*555T>G)
c.1007T>G (p.Phe336Cys)
c.932T>G (p.Phe311Cys)
2g.174750037A>GCA349336360CHRNA1c.422T>C (p.Phe141Ser)
c.986T>C (p.Phe329Ser)
c.911T>C (p.Phe304Ser)
c.665T>C (p.Phe222Ser)
c.*555T>C (n.*555T>C)
c.1007T>C (p.Phe336Ser)
c.932T>C (p.Phe311Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.174750037A>TCA349336361CHRNA1c.422T>A (p.Phe141Tyr)
c.986T>A (p.Phe329Tyr)
c.911T>A (p.Phe304Tyr)
c.665T>A (p.Phe222Tyr)
c.*555T>A (n.*555T>A)
c.1007T>A (p.Phe336Tyr)
c.932T>A (p.Phe311Tyr)
2g.174750038A>CCA349336369CHRNA1c.421T>G (p.Phe141Val)
c.985T>G (p.Phe329Val)
c.910T>G (p.Phe304Val)
c.664T>G (p.Phe222Val)
c.*554T>G (n.*554T>G)
c.1006T>G (p.Phe336Val)
c.931T>G (p.Phe311Val)
2g.174750038A>GCA349336375CHRNA1c.421T>C (p.Phe141Leu)
c.985T>C (p.Phe329Leu)
c.910T>C (p.Phe304Leu)
c.664T>C (p.Phe222Leu)
c.*554T>C (n.*554T>C)
c.1006T>C (p.Phe336Leu)
c.931T>C (p.Phe311Leu)
2g.174750038A>TCA349336373CHRNA1c.421T>A (p.Phe141Ile)
c.985T>A (p.Phe329Ile)
c.910T>A (p.Phe304Ile)
c.664T>A (p.Phe222Ile)
c.*554T>A (n.*554T>A)
c.1006T>A (p.Phe336Ile)
c.931T>A (p.Phe311Ile)
2g.174750039C>ACA430022327CHRNA1c.420G>T (p.Val140=)
c.984G>T (p.Val328=)
c.909G>T (p.Val303=)
c.663G>T (p.Val221=)
c.*553G>T (n.*553G>T)
c.1005G>T (p.Val335=)
c.930G>T (p.Val310=)
2g.174750039C=CA1308832541CHRNA1c.420G= (p.Val140=)
c.984G= (p.Val328=)
c.909G= (p.Val303=)
c.663G= (p.Val221=)
c.*553G= (n.*553G=)
c.1005G= (p.Val335=)
c.930G= (p.Val310=)
2g.174750039C>GCA430022328CHRNA1c.420G>C (p.Val140=)
c.984G>C (p.Val328=)
c.909G>C (p.Val303=)
c.663G>C (p.Val221=)
c.*553G>C (n.*553G>C)
c.1005G>C (p.Val335=)
c.930G>C (p.Val310=)
2g.174750039C>TCA430022329CHRNA1c.420G>A (p.Val140=)
c.984G>A (p.Val328=)
c.909G>A (p.Val303=)
c.663G>A (p.Val221=)
c.*553G>A (n.*553G>A)
c.1005G>A (p.Val335=)
c.930G>A (p.Val310=)
 dbSNP gnomAD v2
2g.174750040A>CCA349336377CHRNA1c.419T>G (p.Val140Gly)
c.983T>G (p.Val328Gly)
c.908T>G (p.Val303Gly)
c.662T>G (p.Val221Gly)
c.*552T>G (n.*552T>G)
c.1004T>G (p.Val335Gly)
c.929T>G (p.Val310Gly)
2g.174750040A>GCA349336380CHRNA1c.419T>C (p.Val140Ala)
c.983T>C (p.Val328Ala)
c.908T>C (p.Val303Ala)
c.662T>C (p.Val221Ala)
c.*552T>C (n.*552T>C)
c.1004T>C (p.Val335Ala)
c.929T>C (p.Val310Ala)
2g.174750040A>TCA349336381CHRNA1c.419T>A (p.Val140Glu)
c.983T>A (p.Val328Glu)
c.908T>A (p.Val303Glu)
c.662T>A (p.Val221Glu)
c.*552T>A (n.*552T>A)
c.1004T>A (p.Val335Glu)
c.929T>A (p.Val310Glu)
2g.174750041C>ACA349336382CHRNA1c.418G>T (p.Val140Leu)
c.982G>T (p.Val328Leu)
c.907G>T (p.Val303Leu)
c.661G>T (p.Val221Leu)
c.*551G>T (n.*551G>T)
c.1003G>T (p.Val335Leu)
c.928G>T (p.Val310Leu)

Number of alleles fetched