Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.78617043C>ACA393588933CHRNA3c.358G>T (p.Asp120Tyr)
n.859G>T
c.157G>T (p.Asp53Tyr)
c.277G>T (p.Asp93Tyr)
n.560G>T
15g.78617043C>GCA393588937CHRNA3c.358G>C (p.Asp120His)
n.859G>C
c.157G>C (p.Asp53His)
c.277G>C (p.Asp93His)
n.560G>C
15g.78617043C>TCA393588935CHRNA3c.358G>A (p.Asp120Asn)
n.859G>A
c.157G>A (p.Asp53Asn)
c.277G>A (p.Asp93Asn)
n.560G>A
15g.78617044T>ACA491626218CHRNA3c.357A>T (p.Pro119=)
n.858A>T
c.156A>T (p.Pro52=)
c.276A>T (p.Pro92=)
n.559A>T
15g.78617044T>CCA491626220CHRNA3c.357A>G (p.Pro119=)
n.858A>G
c.156A>G (p.Pro52=)
c.276A>G (p.Pro92=)
n.559A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.78617044T>GCA491626221CHRNA3c.357A>C (p.Pro119=)
n.858A>C
c.156A>C (p.Pro52=)
c.276A>C (p.Pro92=)
n.559A>C
15g.78617044T=CA2189602573CHRNA3c.357A= (p.Pro119=)
n.858A=
c.156A= (p.Pro52=)
c.276A= (p.Pro92=)
n.559A=
15g.78617045G>ACA393588940CHRNA3c.356C>T (p.Pro119Leu)
n.857C>T
c.155C>T (p.Pro52Leu)
c.275C>T (p.Pro92Leu)
n.558C>T
15g.78617045G>CCA393588943CHRNA3c.356C>G (p.Pro119Arg)
n.857C>G
c.155C>G (p.Pro52Arg)
c.275C>G (p.Pro92Arg)
n.558C>G
15g.78617045G>TCA393588944CHRNA3c.356C>A (p.Pro119Gln)
n.857C>A
c.155C>A (p.Pro52Gln)
c.275C>A (p.Pro92Gln)
n.558C>A
15g.78617046G>ACA393588946CHRNA3c.355C>T (p.Pro119Ser)
n.856C>T
c.154C>T (p.Pro52Ser)
c.274C>T (p.Pro92Ser)
n.557C>T
15g.78617046G>CCA393588948CHRNA3c.355C>G (p.Pro119Ala)
n.856C>G
c.154C>G (p.Pro52Ala)
c.274C>G (p.Pro92Ala)
n.557C>G
 dbSNP gnomAD v3 gnomAD v4
15g.78617046G=CA2189602574CHRNA3c.355C= (p.Pro119=)
n.856C=
c.154C= (p.Pro52=)
c.274C= (p.Pro92=)
n.557C=
15g.78617046G>TCA393588950CHRNA3c.355C>A (p.Pro119Thr)
n.856C>A
c.154C>A (p.Pro52Thr)
c.274C>A (p.Pro92Thr)
n.557C>A
15g.78617047C>ACA393588953CHRNA3c.354G>T (p.Lys118Asn)
n.855G>T
c.153G>T (p.Lys51Asn)
c.273G>T (p.Lys91Asn)
n.556G>T
15g.78617047C>GCA393588956CHRNA3c.354G>C (p.Lys118Asn)
n.855G>C
c.153G>C (p.Lys51Asn)
c.273G>C (p.Lys91Asn)
n.556G>C
15g.78617047C>TCA491626235CHRNA3c.354G>A (p.Lys118=)
n.855G>A
c.153G>A (p.Lys51=)
c.273G>A (p.Lys91=)
n.556G>A
15g.78617048T>ACA393588959CHRNA3c.353A>T (p.Lys118Met)
n.854A>T
c.152A>T (p.Lys51Met)
c.272A>T (p.Lys91Met)
n.555A>T
15g.78617048T>CCA393588960CHRNA3c.353A>G (p.Lys118Arg)
n.854A>G
c.152A>G (p.Lys51Arg)
c.272A>G (p.Lys91Arg)
n.555A>G
 dbSNP gnomAD v2 gnomAD v4
15g.78617048T>GCA393588963CHRNA3c.353A>C (p.Lys118Thr)
n.854A>C
c.152A>C (p.Lys51Thr)
c.272A>C (p.Lys91Thr)
n.555A>C
15g.78617048T=CA2189602575CHRNA3c.353A= (p.Lys118=)
n.854A=
c.152A= (p.Lys51=)
c.272A= (p.Lys91=)
n.555A=
15g.78617049T>ACA393588965CHRNA3c.352A>T (p.Lys118Ter)
n.853A>T
c.151A>T (p.Lys51Ter)
c.271A>T (p.Lys91Ter)
n.554A>T
15g.78617049T>CCA393588970CHRNA3c.352A>G (p.Lys118Glu)
n.853A>G
c.151A>G (p.Lys51Glu)
c.271A>G (p.Lys91Glu)
n.554A>G
15g.78617049T>GCA393588967CHRNA3c.352A>C (p.Lys118Gln)
n.853A>C
c.151A>C (p.Lys51Gln)
c.271A>C (p.Lys91Gln)
n.554A>C
15g.78617050C>ACA393588973CHRNA3c.351G>T (p.Trp117Cys)
n.852G>T
c.150G>T (p.Trp50Cys)
c.270G>T (p.Trp90Cys)
n.553G>T
15g.78617050C>GCA393588978CHRNA3c.351G>C (p.Trp117Cys)
n.852G>C
c.150G>C (p.Trp50Cys)
c.270G>C (p.Trp90Cys)
n.553G>C
15g.78617050C>TCA393588975CHRNA3c.351G>A (p.Trp117Ter)
n.852G>A
c.150G>A (p.Trp50Ter)
c.270G>A (p.Trp90Ter)
n.553G>A
15g.78617051C>ACA393588980CHRNA3c.350G>T (p.Trp117Leu)
n.851G>T
c.149G>T (p.Trp50Leu)
c.269G>T (p.Trp90Leu)
n.552G>T
15g.78617051C=CA2189602576CHRNA3c.350G= (p.Trp117=)
n.851G=
c.149G= (p.Trp50=)
c.269G= (p.Trp90=)
n.552G=
15g.78617051C>GCA393588982CHRNA3c.350G>C (p.Trp117Ser)
n.851G>C
c.149G>C (p.Trp50Ser)
c.269G>C (p.Trp90Ser)
n.552G>C
15g.78617051C>TCA393588984CHRNA3c.350G>A (p.Trp117Ter)
n.851G>A
c.149G>A (p.Trp50Ter)
c.269G>A (p.Trp90Ter)
n.552G>A
 gnomAD v4
15g.78617052A=CA2189602577CHRNA3c.349T= (p.Trp117=)
n.850T=
c.148T= (p.Trp50=)
c.268T= (p.Trp90=)
n.551T=
15g.78617052A>CCA393588990CHRNA3c.349T>G (p.Trp117Gly)
n.850T>G
c.148T>G (p.Trp50Gly)
c.268T>G (p.Trp90Gly)
n.551T>G
15g.78617052A>GCA393588991CHRNA3c.349T>C (p.Trp117Arg)
n.850T>C
c.148T>C (p.Trp50Arg)
c.268T>C (p.Trp90Arg)
n.551T>C
15g.78617052A>TCA393588993CHRNA3c.349T>A (p.Trp117Arg)
n.850T>A
c.148T>A (p.Trp50Arg)
c.268T>A (p.Trp90Arg)
n.551T>A
 dbSNP
15g.78617052dupCA7684530CHRNA3c.349dup (p.Trp117LeufsTer9)
n.850dup
c.148dup (p.Trp50LeufsTer9)
c.268dup (p.Trp90LeufsTer9)
n.551dup
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.78617053G>ACA491626261CHRNA3c.348C>T (p.Ile116=)
n.849C>T
c.147C>T (p.Ile49=)
c.267C>T (p.Ile89=)
n.550C>T
15g.78617053G>CCA393588995CHRNA3c.348C>G (p.Ile116Met)
n.849C>G
c.147C>G (p.Ile49Met)
c.267C>G (p.Ile89Met)
n.550C>G
15g.78617053G>TCA491626265CHRNA3c.348C>A (p.Ile116=)
n.849C>A
c.147C>A (p.Ile49=)
c.267C>A (p.Ile89=)
n.550C>A
15g.78617054A=CA2189602578CHRNA3c.347T= (p.Ile116=)
n.848T=
c.146T= (p.Ile49=)
c.266T= (p.Ile89=)
n.549T=
15g.78617054A>CCA393588997CHRNA3c.347T>G (p.Ile116Ser)
n.848T>G
c.146T>G (p.Ile49Ser)
c.266T>G (p.Ile89Ser)
n.549T>G
 gnomAD v4
15g.78617054A>GCA393588999CHRNA3c.347T>C (p.Ile116Thr)
n.848T>C
c.146T>C (p.Ile49Thr)
c.266T>C (p.Ile89Thr)
n.549T>C
15g.78617054A>TCA393589001CHRNA3c.347T>A (p.Ile116Asn)
n.848T>A
c.146T>A (p.Ile49Asn)
c.266T>A (p.Ile89Asn)
n.549T>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.78617054_78617057delinsATCTCA2189602579CHRNA3c.344_347delinsAGAT (p.Lys115=)
n.845_848delinsAGAT
c.143_146delinsAGAT (p.Lys48=)
c.263_266delinsAGAT (p.Lys88=)
n.546_549delinsAGAT
15g.78617055T>ACA393589015CHRNA3c.346A>T (p.Ile116Phe)
n.847A>T
c.145A>T (p.Ile49Phe)
c.265A>T (p.Ile89Phe)
n.548A>T
15g.78617055T>CCA393589003CHRNA3c.346A>G (p.Ile116Val)
n.847A>G
c.145A>G (p.Ile49Val)
c.265A>G (p.Ile89Val)
n.548A>G
15g.78617055T>GCA393589005CHRNA3c.346A>C (p.Ile116Leu)
n.847A>C
c.145A>C (p.Ile49Leu)
c.265A>C (p.Ile89Leu)
n.548A>C
15g.78617058_78617060delCA715974910CHRNA3c.344_346del (p.Lys115del)
n.845_847del
c.143_145del (p.Lys48del)
c.263_265del (p.Lys88del)
n.546_548del
 dbSNP gnomAD v4
15g.78617056C>ACA393589017CHRNA3c.345G>T (p.Lys115Asn)
n.846G>T
c.144G>T (p.Lys48Asn)
c.264G>T (p.Lys88Asn)
n.547G>T
15g.78617056C=CA2189602580CHRNA3c.345G= (p.Lys115=)
n.846G=
c.144G= (p.Lys48=)
c.264G= (p.Lys88=)
n.547G=

Number of alleles fetched