Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
2g.174750041C>GCA349336383CHRNA1c.418G>C (p.Val140Leu)
c.982G>C (p.Val328Leu)
c.907G>C (p.Val303Leu)
c.661G>C (p.Val221Leu)
c.*551G>C (n.*551G>C)
c.1003G>C (p.Val335Leu)
c.928G>C (p.Val310Leu)
2g.174750041C>TCA349336385CHRNA1c.418G>A (p.Val140Met)
c.982G>A (p.Val328Met)
c.907G>A (p.Val303Met)
c.661G>A (p.Val221Met)
c.*551G>A (n.*551G>A)
c.1003G>A (p.Val335Met)
c.928G>A (p.Val310Met)
2g.174750042C>ACA349336388CHRNA1c.417G>T (p.Met139Ile)
c.981G>T (p.Met327Ile)
c.906G>T (p.Met302Ile)
c.660G>T (p.Met220Ile)
c.*550G>T (n.*550G>T)
c.1002G>T (p.Met334Ile)
c.927G>T (p.Met309Ile)
2g.174750042C>GCA349336393CHRNA1c.417G>C (p.Met139Ile)
c.981G>C (p.Met327Ile)
c.906G>C (p.Met302Ile)
c.660G>C (p.Met220Ile)
c.*550G>C (n.*550G>C)
c.1002G>C (p.Met334Ile)
c.927G>C (p.Met309Ile)
2g.174750042C>TCA349336394CHRNA1c.417G>A (p.Met139Ile)
c.981G>A (p.Met327Ile)
c.906G>A (p.Met302Ile)
c.660G>A (p.Met220Ile)
c.*550G>A (n.*550G>A)
c.1002G>A (p.Met334Ile)
c.927G>A (p.Met309Ile)
COSMIC
2g.174750043A>CCA349336396CHRNA1c.416T>G (p.Met139Arg)
c.980T>G (p.Met327Arg)
c.905T>G (p.Met302Arg)
c.659T>G (p.Met220Arg)
c.*549T>G (n.*549T>G)
c.1001T>G (p.Met334Arg)
c.926T>G (p.Met309Arg)
2g.174750043A>GCA349336398CHRNA1c.416T>C (p.Met139Thr)
c.980T>C (p.Met327Thr)
c.905T>C (p.Met302Thr)
c.659T>C (p.Met220Thr)
c.*549T>C (n.*549T>C)
c.1001T>C (p.Met334Thr)
c.926T>C (p.Met309Thr)
gnomAD v4 COSMIC
2g.174750043A>TCA349336399CHRNA1c.416T>A (p.Met139Lys)
c.980T>A (p.Met327Lys)
c.905T>A (p.Met302Lys)
c.659T>A (p.Met220Lys)
c.*549T>A (n.*549T>A)
c.1001T>A (p.Met334Lys)
c.926T>A (p.Met309Lys)
ClinVar dbSNP
2g.174750044T>ACA349336402CHRNA1c.415A>T (p.Met139Leu)
c.979A>T (p.Met327Leu)
c.904A>T (p.Met302Leu)
c.658A>T (p.Met220Leu)
c.*548A>T (n.*548A>T)
c.1000A>T (p.Met334Leu)
c.925A>T (p.Met309Leu)
2g.174750044T>CCA349336409CHRNA1c.415A>G (p.Met139Val)
c.979A>G (p.Met327Val)
c.904A>G (p.Met302Val)
c.658A>G (p.Met220Val)
c.*548A>G (n.*548A>G)
c.1000A>G (p.Met334Val)
c.925A>G (p.Met309Val)
gnomAD v4
2g.174750044T>GCA349336407CHRNA1c.415A>C (p.Met139Leu)
c.979A>C (p.Met327Leu)
c.904A>C (p.Met302Leu)
c.658A>C (p.Met220Leu)
c.*548A>C (n.*548A>C)
c.1000A>C (p.Met334Leu)
c.925A>C (p.Met309Leu)
2g.174750044_174750045delinsTGCA1308832542CHRNA1c.414_415delinsCA (p.Thr138=)
c.978_979delinsCA (p.Thr326=)
c.903_904delinsCA (p.Thr301=)
c.657_658delinsCA (p.Thr219=)
c.*547_*548delinsCA (n.*547_*548delinsCA)
c.999_1000delinsCA (p.Thr333=)
c.924_925delinsCA (p.Thr308=)
2g.174750045G>ACA430022334CHRNA1c.414C>T (p.Thr138=)
c.978C>T (p.Thr326=)
c.903C>T (p.Thr301=)
c.657C>T (p.Thr219=)
c.*547C>T (n.*547C>T)
c.999C>T (p.Thr333=)
c.924C>T (p.Thr308=)
dbSNP gnomAD v4
2g.174750045G>CCA430022335CHRNA1c.414C>G (p.Thr138=)
c.978C>G (p.Thr326=)
c.903C>G (p.Thr301=)
c.657C>G (p.Thr219=)
c.*547C>G (n.*547C>G)
c.999C>G (p.Thr333=)
c.924C>G (p.Thr308=)
2g.174750045G=CA1308832543CHRNA1c.414C= (p.Thr138=)
c.978C= (p.Thr326=)
c.903C= (p.Thr301=)
c.657C= (p.Thr219=)
c.*547C= (n.*547C=)
c.999C= (p.Thr333=)
c.924C= (p.Thr308=)
2g.174750045G>TCA430022336CHRNA1c.414C>A (p.Thr138=)
c.978C>A (p.Thr326=)
c.903C>A (p.Thr301=)
c.657C>A (p.Thr219=)
c.*547C>A (n.*547C>A)
c.999C>A (p.Thr333=)
c.924C>A (p.Thr308=)
2g.174750046delCA537763874CHRNA1c.414del (p.Met139TrpfsTer?)
c.978del (p.Met327TrpfsTer?)
c.903del (p.Met302TrpfsTer?)
c.657del (p.Met220TrpfsTer?)
c.*547del (n.*547del)
c.999del (p.Met334TrpfsTer?)
c.924del (p.Met309TrpfsTer?)
dbSNP gnomAD v2 gnomAD v4
2g.174750046G>ACA349336413CHRNA1c.413C>T (p.Thr138Ile)
c.977C>T (p.Thr326Ile)
c.902C>T (p.Thr301Ile)
c.656C>T (p.Thr219Ile)
c.*546C>T (n.*546C>T)
c.998C>T (p.Thr333Ile)
c.923C>T (p.Thr308Ile)
gnomAD v4
2g.174750046G>CCA349336418CHRNA1c.413C>G (p.Thr138Ser)
c.977C>G (p.Thr326Ser)
c.902C>G (p.Thr301Ser)
c.656C>G (p.Thr219Ser)
c.*546C>G (n.*546C>G)
c.998C>G (p.Thr333Ser)
c.923C>G (p.Thr308Ser)
ClinVar dbSNP
2g.174750046G>TCA349336421CHRNA1c.413C>A (p.Thr138Asn)
c.977C>A (p.Thr326Asn)
c.902C>A (p.Thr301Asn)
c.656C>A (p.Thr219Asn)
c.*546C>A (n.*546C>A)
c.998C>A (p.Thr333Asn)
c.923C>A (p.Thr308Asn)
ClinVar dbSNP
2g.174750047T>ACA349336423CHRNA1c.412A>T (p.Thr138Ser)
c.976A>T (p.Thr326Ser)
c.901A>T (p.Thr301Ser)
c.655A>T (p.Thr219Ser)
c.*545A>T (n.*545A>T)
c.997A>T (p.Thr333Ser)
c.922A>T (p.Thr308Ser)
2g.174750047T>CCA349336426CHRNA1c.412A>G (p.Thr138Ala)
c.976A>G (p.Thr326Ala)
c.901A>G (p.Thr301Ala)
c.655A>G (p.Thr219Ala)
c.*545A>G (n.*545A>G)
c.997A>G (p.Thr333Ala)
c.922A>G (p.Thr308Ala)
ClinVar dbSNP
2g.174750047T>GCA349336427CHRNA1c.412A>C (p.Thr138Pro)
c.976A>C (p.Thr326Pro)
c.901A>C (p.Thr301Pro)
c.655A>C (p.Thr219Pro)
c.*545A>C (n.*545A>C)
c.997A>C (p.Thr333Pro)
c.922A>C (p.Thr308Pro)
2g.174750047T=CA1308832544CHRNA1c.412A= (p.Thr138=)
c.976A= (p.Thr326=)
c.901A= (p.Thr301=)
c.655A= (p.Thr219=)
c.*545A= (n.*545A=)
c.997A= (p.Thr333=)
c.922A= (p.Thr308=)
2g.174750048G>ACA430022340CHRNA1c.411C>T (p.Phe137=)
c.975C>T (p.Phe325=)
c.900C>T (p.Phe300=)
c.654C>T (p.Phe218=)
c.*544C>T (n.*544C>T)
c.996C>T (p.Phe332=)
c.921C>T (p.Phe307=)
2g.174750048G>CCA349336430CHRNA1c.411C>G (p.Phe137Leu)
c.975C>G (p.Phe325Leu)
c.900C>G (p.Phe300Leu)
c.654C>G (p.Phe218Leu)
c.*544C>G (n.*544C>G)
c.996C>G (p.Phe332Leu)
c.921C>G (p.Phe307Leu)
2g.174750048G>TCA349336434CHRNA1c.411C>A (p.Phe137Leu)
c.975C>A (p.Phe325Leu)
c.900C>A (p.Phe300Leu)
c.654C>A (p.Phe218Leu)
c.*544C>A (n.*544C>A)
c.996C>A (p.Phe332Leu)
c.921C>A (p.Phe307Leu)

Number of alleles fetched