Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.174754233C>ACA349340841CHRNA1c.37G>T (p.Val13Leu)
c.601G>T (p.Val201Leu)
c.526G>T (p.Val176Leu)
c.280G>T (p.Val94Leu)
c.*170G>T (n.*170G>T)
c.622G>T (p.Val208Leu)
c.547G>T (p.Val183Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.174754233C=CA1308834327CHRNA1c.37G= (p.Val13=)
c.601G= (p.Val201=)
c.526G= (p.Val176=)
c.280G= (p.Val94=)
c.*170G= (n.*170G=)
c.622G= (p.Val208=)
c.547G= (p.Val183=)
2g.174754233C>GCA1974536CHRNA1c.37G>C (p.Val13Leu)
c.601G>C (p.Val201Leu)
c.526G>C (p.Val176Leu)
c.280G>C (p.Val94Leu)
c.*170G>C (n.*170G>C)
c.622G>C (p.Val208Leu)
c.547G>C (p.Val183Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.174754233C>TCA258179CHRNA1c.37G>A (p.Val13Met)
c.601G>A (p.Val201Met)
c.526G>A (p.Val176Met)
c.280G>A (p.Val94Met)
c.*170G>A (n.*170G>A)
c.622G>A (p.Val208Met)
c.547G>A (p.Val183Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.174754234G>ACA1974537CHRNA1c.36C>T (p.Val12=)
c.600C>T (p.Val200=)
c.525C>T (p.Val175=)
c.279C>T (p.Val93=)
c.*169C>T (n.*169C>T)
c.621C>T (p.Val207=)
c.546C>T (p.Val182=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.174754234G>CCA430023026CHRNA1c.36C>G (p.Val12=)
c.600C>G (p.Val200=)
c.525C>G (p.Val175=)
c.279C>G (p.Val93=)
c.*169C>G (n.*169C>G)
c.621C>G (p.Val207=)
c.546C>G (p.Val182=)
 dbSNP gnomAD v2 gnomAD v4
2g.174754234G=CA1308834328CHRNA1c.36C= (p.Val12=)
c.600C= (p.Val200=)
c.525C= (p.Val175=)
c.279C= (p.Val93=)
c.*169C= (n.*169C=)
c.621C= (p.Val207=)
c.546C= (p.Val182=)
2g.174754234G>TCA430023027CHRNA1c.36C>A (p.Val12=)
c.600C>A (p.Val200=)
c.525C>A (p.Val175=)
c.279C>A (p.Val93=)
c.*169C>A (n.*169C>A)
c.621C>A (p.Val207=)
c.546C>A (p.Val182=)
 dbSNP gnomAD v2 gnomAD v4
2g.174754235A>CCA349340852CHRNA1c.35T>G (p.Val12Gly)
c.599T>G (p.Val200Gly)
c.524T>G (p.Val175Gly)
c.278T>G (p.Val93Gly)
c.*168T>G (n.*168T>G)
c.620T>G (p.Val207Gly)
c.545T>G (p.Val182Gly)
2g.174754235A>GCA349340855CHRNA1c.35T>C (p.Val12Ala)
c.599T>C (p.Val200Ala)
c.524T>C (p.Val175Ala)
c.278T>C (p.Val93Ala)
c.*168T>C (n.*168T>C)
c.620T>C (p.Val207Ala)
c.545T>C (p.Val182Ala)
2g.174754235A>TCA349340858CHRNA1c.35T>A (p.Val12Asp)
c.599T>A (p.Val200Asp)
c.524T>A (p.Val175Asp)
c.278T>A (p.Val93Asp)
c.*168T>A (n.*168T>A)
c.620T>A (p.Val207Asp)
c.545T>A (p.Val182Asp)
2g.174754236C>ACA349340862CHRNA1c.34G>T (p.Val12Phe)
c.598G>T (p.Val200Phe)
c.523G>T (p.Val175Phe)
c.277G>T (p.Val93Phe)
c.*167G>T (n.*167G>T)
c.619G>T (p.Val207Phe)
c.544G>T (p.Val182Phe)
2g.174754236C>GCA349340865CHRNA1c.34G>C (p.Val12Leu)
c.598G>C (p.Val200Leu)
c.523G>C (p.Val175Leu)
c.277G>C (p.Val93Leu)
c.*167G>C (n.*167G>C)
c.619G>C (p.Val207Leu)
c.544G>C (p.Val182Leu)
2g.174754236C>TCA349340867CHRNA1c.34G>A (p.Val12Ile)
c.598G>A (p.Val200Ile)
c.523G>A (p.Val175Ile)
c.277G>A (p.Val93Ile)
c.*167G>A (n.*167G>A)
c.619G>A (p.Val207Ile)
c.544G>A (p.Val182Ile)
 gnomAD v4
2g.174754237A>CCA430023028CHRNA1c.33T>G (p.Ser11=)
c.597T>G (p.Ser199=)
c.522T>G (p.Ser174=)
c.276T>G (p.Ser92=)
c.*166T>G (n.*166T>G)
c.618T>G (p.Ser206=)
c.543T>G (p.Ser181=)
2g.174754237A>GCA430023029CHRNA1c.33T>C (p.Ser11=)
c.597T>C (p.Ser199=)
c.522T>C (p.Ser174=)
c.276T>C (p.Ser92=)
c.*166T>C (n.*166T>C)
c.618T>C (p.Ser206=)
c.543T>C (p.Ser181=)
2g.174754237A>TCA430023030CHRNA1c.33T>A (p.Ser11=)
c.597T>A (p.Ser199=)
c.522T>A (p.Ser174=)
c.276T>A (p.Ser92=)
c.*166T>A (n.*166T>A)
c.618T>A (p.Ser206=)
c.543T>A (p.Ser181=)
2g.174754238G>ACA349340872CHRNA1c.32C>T (p.Ser11Phe)
c.596C>T (p.Ser199Phe)
c.521C>T (p.Ser174Phe)
c.275C>T (p.Ser92Phe)
c.*165C>T (n.*165C>T)
c.617C>T (p.Ser206Phe)
c.542C>T (p.Ser181Phe)
2g.174754238G>CCA349340874CHRNA1c.32C>G (p.Ser11Cys)
c.596C>G (p.Ser199Cys)
c.521C>G (p.Ser174Cys)
c.275C>G (p.Ser92Cys)
c.*165C>G (n.*165C>G)
c.617C>G (p.Ser206Cys)
c.542C>G (p.Ser181Cys)
 dbSNP gnomAD v4
2g.174754238G>TCA349340876CHRNA1c.32C>A (p.Ser11Tyr)
c.596C>A (p.Ser199Tyr)
c.521C>A (p.Ser174Tyr)
c.275C>A (p.Ser92Tyr)
c.*165C>A (n.*165C>A)
c.617C>A (p.Ser206Tyr)
c.542C>A (p.Ser181Tyr)
2g.174754239A=CA1308834329CHRNA1c.31T= (p.Ser11=)
c.595T= (p.Ser199=)
c.520T= (p.Ser174=)
c.274T= (p.Ser92=)
c.*164T= (n.*164T=)
c.616T= (p.Ser206=)
c.541T= (p.Ser181=)
2g.174754239A>CCA60852787CHRNA1c.31T>G (p.Ser11Ala)
c.595T>G (p.Ser199Ala)
c.520T>G (p.Ser174Ala)
c.274T>G (p.Ser92Ala)
c.*164T>G (n.*164T>G)
c.616T>G (p.Ser206Ala)
c.541T>G (p.Ser181Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.174754239A>GCA349340884CHRNA1c.31T>C (p.Ser11Pro)
c.595T>C (p.Ser199Pro)
c.520T>C (p.Ser174Pro)
c.274T>C (p.Ser92Pro)
c.*164T>C (n.*164T>C)
c.616T>C (p.Ser206Pro)
c.541T>C (p.Ser181Pro)
 dbSNP
2g.174754239A>TCA349340878CHRNA1c.31T>A (p.Ser11Thr)
c.595T>A (p.Ser199Thr)
c.520T>A (p.Ser174Thr)
c.274T>A (p.Ser92Thr)
c.*164T>A (n.*164T>A)
c.616T>A (p.Ser206Thr)
c.541T>A (p.Ser181Thr)
2g.174754240G>ACA430023031CHRNA1c.30C>T (p.Gly10=)
c.594C>T (p.Gly198=)
c.519C>T (p.Gly173=)
c.273C>T (p.Gly91=)
c.*163C>T (n.*163C>T)
c.615C>T (p.Gly205=)
c.540C>T (p.Gly180=)
2g.174754240G>CCA430023033CHRNA1c.30C>G (p.Gly10=)
c.594C>G (p.Gly198=)
c.519C>G (p.Gly173=)
c.273C>G (p.Gly91=)
c.*163C>G (n.*163C>G)
c.615C>G (p.Gly205=)
c.540C>G (p.Gly180=)
2g.174754240G=CA1308834330CHRNA1c.30C= (p.Gly10=)
c.594C= (p.Gly198=)
c.519C= (p.Gly173=)
c.273C= (p.Gly91=)
c.*163C= (n.*163C=)
c.615C= (p.Gly205=)
c.540C= (p.Gly180=)
2g.174754240G>TCA430023034CHRNA1c.30C>A (p.Gly10=)
c.594C>A (p.Gly198=)
c.519C>A (p.Gly173=)
c.273C>A (p.Gly91=)
c.*163C>A (n.*163C>A)
c.615C>A (p.Gly205=)
c.540C>A (p.Gly180=)
2g.174754241C>ACA349340887CHRNA1c.29G>T (p.Gly10Val)
c.593G>T (p.Gly198Val)
c.518G>T (p.Gly173Val)
c.272G>T (p.Gly91Val)
c.*162G>T (n.*162G>T)
c.614G>T (p.Gly205Val)
c.539G>T (p.Gly180Val)
2g.174754241C>GCA349340889CHRNA1c.29G>C (p.Gly10Ala)
c.593G>C (p.Gly198Ala)
c.518G>C (p.Gly173Ala)
c.272G>C (p.Gly91Ala)
c.*162G>C (n.*162G>C)
c.614G>C (p.Gly205Ala)
c.539G>C (p.Gly180Ala)
2g.174754241C>TCA349340893CHRNA1c.29G>A (p.Gly10Asp)
c.593G>A (p.Gly198Asp)
c.518G>A (p.Gly173Asp)
c.272G>A (p.Gly91Asp)
c.*162G>A (n.*162G>A)
c.614G>A (p.Gly205Asp)
c.539G>A (p.Gly180Asp)
2g.174754242dupCA16617326CHRNA1c.29dup (p.Ser11LeufsTer?)
c.593dup (p.Ser199LeufsTer?)
c.518dup (p.Ser174LeufsTer?)
c.272dup (p.Ser92LeufsTer?)
c.*162dup (n.*162dup)
c.614dup (p.Ser206LeufsTer?)
c.539dup (p.Ser181LeufsTer?)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.174754242C>ACA349340895CHRNA1c.28G>T (p.Gly10Cys)
c.592G>T (p.Gly198Cys)
c.517G>T (p.Gly173Cys)
c.271G>T (p.Gly91Cys)
c.*161G>T (n.*161G>T)
c.613G>T (p.Gly205Cys)
c.538G>T (p.Gly180Cys)
2g.174754242C=CA1308834331CHRNA1c.28G= (p.Gly10=)
c.592G= (p.Gly198=)
c.517G= (p.Gly173=)
c.271G= (p.Gly91=)
c.*161G= (n.*161G=)
c.613G= (p.Gly205=)
c.538G= (p.Gly180=)
2g.174754242C>GCA349340897CHRNA1c.28G>C (p.Gly10Arg)
c.592G>C (p.Gly198Arg)
c.517G>C (p.Gly173Arg)
c.271G>C (p.Gly91Arg)
c.*161G>C (n.*161G>C)
c.613G>C (p.Gly205Arg)
c.538G>C (p.Gly180Arg)
2g.174754242C>TCA258183CHRNA1c.28G>A (p.Gly10Ser)
c.592G>A (p.Gly198Ser)
c.517G>A (p.Gly173Ser)
c.271G>A (p.Gly91Ser)
c.*161G>A (n.*161G>A)
c.613G>A (p.Gly205Ser)
c.538G>A (p.Gly180Ser)
 ClinVar dbSNP
2g.174754243G>ACA1974538CHRNA1c.27C>T (p.Asp9=)
c.591C>T (p.Asp197=)
c.516C>T (p.Asp172=)
c.270C>T (p.Asp90=)
c.*160C>T (n.*160C>T)
c.612C>T (p.Asp204=)
c.537C>T (p.Asp179=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.174754243G>CCA349340902CHRNA1c.27C>G (p.Asp9Glu)
c.591C>G (p.Asp197Glu)
c.516C>G (p.Asp172Glu)
c.270C>G (p.Asp90Glu)
c.*160C>G (n.*160C>G)
c.612C>G (p.Asp204Glu)
c.537C>G (p.Asp179Glu)
2g.174754243G=CA1308834332CHRNA1c.27C= (p.Asp9=)
c.591C= (p.Asp197=)
c.516C= (p.Asp172=)
c.270C= (p.Asp90=)
c.*160C= (n.*160C=)
c.612C= (p.Asp204=)
c.537C= (p.Asp179=)
2g.174754243G>TCA349340905CHRNA1c.27C>A (p.Asp9Glu)
c.591C>A (p.Asp197Glu)
c.516C>A (p.Asp172Glu)
c.270C>A (p.Asp90Glu)
c.*160C>A (n.*160C>A)
c.612C>A (p.Asp204Glu)
c.537C>A (p.Asp179Glu)
2g.174754244T>ACA349340908CHRNA1c.26A>T (p.Asp9Val)
c.590A>T (p.Asp197Val)
c.515A>T (p.Asp172Val)
c.269A>T (p.Asp90Val)
c.*159A>T (n.*159A>T)
c.611A>T (p.Asp204Val)
c.536A>T (p.Asp179Val)
2g.174754244T>CCA349340912CHRNA1c.26A>G (p.Asp9Gly)
c.590A>G (p.Asp197Gly)
c.515A>G (p.Asp172Gly)
c.269A>G (p.Asp90Gly)
c.*159A>G (n.*159A>G)
c.611A>G (p.Asp204Gly)
c.536A>G (p.Asp179Gly)
2g.174754244T>GCA349340914CHRNA1c.26A>C (p.Asp9Ala)
c.590A>C (p.Asp197Ala)
c.515A>C (p.Asp172Ala)
c.269A>C (p.Asp90Ala)
c.*159A>C (n.*159A>C)
c.611A>C (p.Asp204Ala)
c.536A>C (p.Asp179Ala)
2g.174754245C>ACA349340920CHRNA1c.25G>T (p.Asp9Tyr)
c.589G>T (p.Asp197Tyr)
c.514G>T (p.Asp172Tyr)
c.268G>T (p.Asp90Tyr)
c.*158G>T (n.*158G>T)
c.610G>T (p.Asp204Tyr)
c.535G>T (p.Asp179Tyr)
2g.174754245C=CA1308834333CHRNA1c.25G= (p.Asp9=)
c.589G= (p.Asp197=)
c.514G= (p.Asp172=)
c.268G= (p.Asp90=)
c.*158G= (n.*158G=)
c.610G= (p.Asp204=)
c.535G= (p.Asp179=)
2g.174754245C>GCA349340919CHRNA1c.25G>C (p.Asp9His)
c.589G>C (p.Asp197His)
c.514G>C (p.Asp172His)
c.268G>C (p.Asp90His)
c.*158G>C (n.*158G>C)
c.610G>C (p.Asp204His)
c.535G>C (p.Asp179His)
2g.174754245C>TCA349340916CHRNA1c.25G>A (p.Asp9Asn)
c.589G>A (p.Asp197Asn)
c.514G>A (p.Asp172Asn)
c.268G>A (p.Asp90Asn)
c.*158G>A (n.*158G>A)
c.610G>A (p.Asp204Asn)
c.535G>A (p.Asp179Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.174754246G>ACA1974539CHRNA1c.24C>T (p.Tyr8=)
c.588C>T (p.Tyr196=)
c.513C>T (p.Tyr171=)
c.267C>T (p.Tyr89=)
c.*157C>T (n.*157C>T)
c.609C>T (p.Tyr203=)
c.534C>T (p.Tyr178=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.174754246G>CCA349340926CHRNA1c.24C>G (p.Tyr8Ter)
c.588C>G (p.Tyr196Ter)
c.513C>G (p.Tyr171Ter)
c.267C>G (p.Tyr89Ter)
c.*157C>G (n.*157C>G)
c.609C>G (p.Tyr203Ter)
c.534C>G (p.Tyr178Ter)
2g.174754246G=CA1308834334CHRNA1c.24C= (p.Tyr8=)
c.588C= (p.Tyr196=)
c.513C= (p.Tyr171=)
c.267C= (p.Tyr89=)
c.*157C= (n.*157C=)
c.609C= (p.Tyr203=)
c.534C= (p.Tyr178=)

Number of alleles fetched