Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.154571518G>ACA313659CHRNB2c.695G>A (p.Arg232His)
c.701G>A (p.Arg234His)
c.185G>A (p.Arg62His)
n.947G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.154571518G>CCA342630640CHRNB2c.695G>C (p.Arg232Pro)
c.701G>C (p.Arg234Pro)
c.185G>C (p.Arg62Pro)
n.947G>C
1g.154571518G=CA1141153238CHRNB2c.695G= (p.Arg232=)
c.701G= (p.Arg234=)
c.185G= (p.Arg62=)
n.947G=
1g.154571518G>TCA342630639CHRNB2c.695G>T (p.Arg232Leu)
c.701G>T (p.Arg234Leu)
c.185G>T (p.Arg62Leu)
n.947G>T
 dbSNP gnomAD v2 gnomAD v4
1g.154571519C>ACA30834462CHRNB2c.696C>A (p.Arg232=)
c.702C>A (p.Arg234=)
c.186C>A (p.Arg62=)
n.948C>A
 dbSNP gnomAD v4
1g.154571519C=CA2480925281CHRNB2c.696C= (p.Arg232=)
c.702C= (p.Arg234=)
c.186C= (p.Arg62=)
n.948C=
1g.154571519C>GCA421231361CHRNB2c.696C>G (p.Arg232=)
c.702C>G (p.Arg234=)
c.186C>G (p.Arg62=)
n.948C>G
1g.154571519C>TCA421231363CHRNB2c.696C>T (p.Arg232=)
c.702C>T (p.Arg234=)
c.186C>T (p.Arg62=)
n.948C>T
1g.154571520A>CCA342630641CHRNB2c.697A>C (p.Lys233Gln)
c.703A>C (p.Lys235Gln)
c.187A>C (p.Lys63Gln)
n.949A>C
1g.154571520A>GCA342630642CHRNB2c.697A>G (p.Lys233Glu)
c.703A>G (p.Lys235Glu)
c.187A>G (p.Lys63Glu)
n.949A>G
1g.154571520A>TCA342630643CHRNB2c.697A>T (p.Lys233Ter)
c.703A>T (p.Lys235Ter)
c.187A>T (p.Lys63Ter)
n.949A>T
1g.154571521dupCA421231365CHRNB2c.698dup (p.Pro234AlafsTer?)
c.704dup (p.Pro236AlafsTer?)
c.188dup (p.Pro64AlafsTer?)
n.950dup
 COSMIC
1g.154571521A>CCA342630644CHRNB2c.698A>C (p.Lys233Thr)
c.704A>C (p.Lys235Thr)
c.188A>C (p.Lys63Thr)
n.950A>C
1g.154571521A>GCA342630645CHRNB2c.698A>G (p.Lys233Arg)
c.704A>G (p.Lys235Arg)
c.188A>G (p.Lys63Arg)
n.950A>G
1g.154571521A>TCA342630646CHRNB2c.698A>T (p.Lys233Met)
c.704A>T (p.Lys235Met)
c.188A>T (p.Lys63Met)
n.950A>T
1g.154571522G>ACA421230956CHRNB2c.699G>A (p.Lys233=)
c.705G>A (p.Lys235=)
c.189G>A (p.Lys63=)
n.951G>A
1g.154571522G>CCA342630648CHRNB2c.699G>C (p.Lys233Asn)
c.705G>C (p.Lys235Asn)
c.189G>C (p.Lys63Asn)
n.951G>C
1g.154571522G>TCA342630647CHRNB2c.699G>T (p.Lys233Asn)
c.705G>T (p.Lys235Asn)
c.189G>T (p.Lys63Asn)
n.951G>T
1g.154571523C>ACA342630649CHRNB2c.700C>A (p.Pro234Thr)
c.706C>A (p.Pro236Thr)
c.190C>A (p.Pro64Thr)
n.952C>A
1g.154571523C>GCA342630650CHRNB2c.700C>G (p.Pro234Ala)
c.706C>G (p.Pro236Ala)
c.190C>G (p.Pro64Ala)
n.952C>G
1g.154571523C>TCA342630651CHRNB2c.700C>T (p.Pro234Ser)
c.706C>T (p.Pro236Ser)
c.190C>T (p.Pro64Ser)
n.952C>T
1g.154571524C>ACA342630652CHRNB2c.701C>A (p.Pro234Gln)
c.707C>A (p.Pro236Gln)
c.191C>A (p.Pro64Gln)
n.953C>A
1g.154571524C=CA2480925282CHRNB2c.701C= (p.Pro234=)
c.707C= (p.Pro236=)
c.191C= (p.Pro64=)
n.953C=
1g.154571524C>GCA342630653CHRNB2c.701C>G (p.Pro234Arg)
c.707C>G (p.Pro236Arg)
c.191C>G (p.Pro64Arg)
n.953C>G
1g.154571524C>TCA342630654CHRNB2c.701C>T (p.Pro234Leu)
c.707C>T (p.Pro236Leu)
c.191C>T (p.Pro64Leu)
n.953C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
1g.154571525delCA2648170268CHRNB2c.702del (p.Leu235SerfsTer17)
c.708del (p.Leu237SerfsTer17)
c.192del (p.Leu65SerfsTer17)
n.954del
 gnomAD v4
1g.154571525G>ACA16603420CHRNB2c.702G>A (p.Pro234=)
c.708G>A (p.Pro236=)
c.192G>A (p.Pro64=)
n.954G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.154571525G>CCA421230957CHRNB2c.702G>C (p.Pro234=)
c.708G>C (p.Pro236=)
c.192G>C (p.Pro64=)
n.954G>C
1g.154571525G=CA1143392617CHRNB2c.702G= (p.Pro234=)
c.708G= (p.Pro236=)
c.192G= (p.Pro64=)
n.954G=
1g.154571525G>TCA421230958CHRNB2c.702G>T (p.Pro234=)
c.708G>T (p.Pro236=)
c.192G>T (p.Pro64=)
n.954G>T
1g.154571526C>ACA342630655CHRNB2c.703C>A (p.Leu235Ile)
c.709C>A (p.Leu237Ile)
c.193C>A (p.Leu65Ile)
n.955C>A
1g.154571526C>GCA342630657CHRNB2c.703C>G (p.Leu235Val)
c.709C>G (p.Leu237Val)
c.193C>G (p.Leu65Val)
n.955C>G
1g.154571526C>TCA342630656CHRNB2c.703C>T (p.Leu235Phe)
c.709C>T (p.Leu237Phe)
c.193C>T (p.Leu65Phe)
n.955C>T
 COSMIC
1g.154571527T>ACA342630658CHRNB2c.704T>A (p.Leu235His)
c.710T>A (p.Leu237His)
c.194T>A (p.Leu65His)
n.956T>A
1g.154571527T>CCA342630659CHRNB2c.704T>C (p.Leu235Pro)
c.710T>C (p.Leu237Pro)
c.194T>C (p.Leu65Pro)
n.956T>C
1g.154571527T>GCA342630660CHRNB2c.704T>G (p.Leu235Arg)
c.710T>G (p.Leu237Arg)
c.194T>G (p.Leu65Arg)
n.956T>G
1g.154571528C>ACA421230959CHRNB2c.705C>A (p.Leu235=)
c.711C>A (p.Leu237=)
c.195C>A (p.Leu65=)
n.957C>A
1g.154571528C=CA2480925283CHRNB2c.705C= (p.Leu235=)
c.711C= (p.Leu237=)
c.195C= (p.Leu65=)
n.957C=
1g.154571528C>GCA30834465CHRNB2c.705C>G (p.Leu235=)
c.711C>G (p.Leu237=)
c.195C>G (p.Leu65=)
n.957C>G
 dbSNP
1g.154571528C>TCA1130770CHRNB2c.705C>T (p.Leu235=)
c.711C>T (p.Leu237=)
c.195C>T (p.Leu65=)
n.957C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.154571529T>ACA342630661CHRNB2c.706T>A (p.Phe236Ile)
c.712T>A (p.Phe238Ile)
c.196T>A (p.Phe66Ile)
n.958T>A
1g.154571529T>CCA342630662CHRNB2c.706T>C (p.Phe236Leu)
c.712T>C (p.Phe238Leu)
c.196T>C (p.Phe66Leu)
n.958T>C
1g.154571529T>GCA342630663CHRNB2c.706T>G (p.Phe236Val)
c.712T>G (p.Phe238Val)
c.196T>G (p.Phe66Val)
n.958T>G
1g.154571530T>ACA342630664CHRNB2c.707T>A (p.Phe236Tyr)
c.713T>A (p.Phe238Tyr)
c.197T>A (p.Phe66Tyr)
n.959T>A
1g.154571530T>CCA342630665CHRNB2c.707T>C (p.Phe236Ser)
c.713T>C (p.Phe238Ser)
c.197T>C (p.Phe66Ser)
n.959T>C
 gnomAD v4
1g.154571530T>GCA342630666CHRNB2c.707T>G (p.Phe236Cys)
c.713T>G (p.Phe238Cys)
c.197T>G (p.Phe66Cys)
n.959T>G
1g.154571531C>ACA342630667CHRNB2c.708C>A (p.Phe236Leu)
c.714C>A (p.Phe238Leu)
c.198C>A (p.Phe66Leu)
n.960C>A
1g.154571531C=CA1140789015CHRNB2c.708C= (p.Phe236=)
c.714C= (p.Phe238=)
c.198C= (p.Phe66=)
n.960C=
1g.154571531C>GCA342630668CHRNB2c.708C>G (p.Phe236Leu)
c.714C>G (p.Phe238Leu)
c.198C>G (p.Phe66Leu)
n.960C>G
 COSMIC
1g.154571531C>TCA30834474CHRNB2c.708C>T (p.Phe236=)
c.714C>T (p.Phe238=)
c.198C>T (p.Phe66=)
n.960C>T
 ClinVar dbSNP gnomAD v4

Number of alleles fetched