Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.154571330C>ACA342630189CHRNB2c.507C>A (p.Cys169Ter)
c.513C>A (p.Cys171Ter)
c.-4C>A (n.-4C>A)
n.759C>A
1g.154571330C>GCA342630190CHRNB2c.507C>G (p.Cys169Trp)
c.513C>G (p.Cys171Trp)
c.-4C>G (n.-4C>G)
n.759C>G
1g.154571330C>TCA421230896CHRNB2c.507C>T (p.Cys169=)
c.513C>T (p.Cys171=)
c.-4C>T (n.-4C>T)
n.759C>T
1g.154571331A=CA1143453964CHRNB2c.508A= (p.Thr170=)
c.514A= (p.Thr172=)
c.-3A= (n.-3A=)
n.760A=
1g.154571331A>CCA342630191CHRNB2c.508A>C (p.Thr170Pro)
c.514A>C (p.Thr172Pro)
c.-3A>C (n.-3A>C)
n.760A>C
1g.154571331A>GCA30834140CHRNB2c.508A>G (p.Thr170Ala)
c.514A>G (p.Thr172Ala)
c.-3A>G (n.-3A>G)
n.760A>G
 dbSNP
1g.154571331A>TCA342630192CHRNB2c.508A>T (p.Thr170Ser)
c.514A>T (p.Thr172Ser)
c.-3A>T (n.-3A>T)
n.760A>T
1g.154571332C>ACA342630193CHRNB2c.509C>A (p.Thr170Asn)
c.515C>A (p.Thr172Asn)
c.-2C>A (n.-2C>A)
n.761C>A
1g.154571332C=CA2480925219CHRNB2c.509C= (p.Thr170=)
c.515C= (p.Thr172=)
c.-2C= (n.-2C=)
n.761C=
1g.154571332C>GCA342630194CHRNB2c.509C>G (p.Thr170Ser)
c.515C>G (p.Thr172Ser)
c.-2C>G (n.-2C>G)
n.761C>G
 dbSNP gnomAD v3 gnomAD v4
1g.154571332C>TCA342630195CHRNB2c.509C>T (p.Thr170Ile)
c.515C>T (p.Thr172Ile)
c.-2C>T (n.-2C>T)
n.761C>T
1g.154571333C>ACA421230900CHRNB2c.510C>A (p.Thr170=)
c.516C>A (p.Thr172=)
c.-1C>A (n.-1C>A)
n.762C>A
1g.154571333C>GCA421230903CHRNB2c.510C>G (p.Thr170=)
c.516C>G (p.Thr172=)
c.-1C>G (n.-1C>G)
n.762C>G
1g.154571333C>TCA421230901CHRNB2c.510C>T (p.Thr170=)
c.516C>T (p.Thr172=)
c.-1C>T (n.-1C>T)
n.762C>T
1g.154571334A=CA2480925220CHRNB2c.511A= (p.Met171=)
c.517A= (p.Met173=)
c.1A= (p.Met1=)
n.763A=
1g.154571334A>CCA342630196CHRNB2c.511A>C (p.Met171Leu)
c.517A>C (p.Met173Leu)
c.1A>C (p.Met1Leu)
n.763A>C
1g.154571334A>GCA342630197CHRNB2c.511A>G (p.Met171Val)
c.517A>G (p.Met173Val)
c.1A>G (p.Met1Val)
n.763A>G
 dbSNP gnomAD v4
1g.154571334A>TCA342630198CHRNB2c.511A>T (p.Met171Leu)
c.517A>T (p.Met173Leu)
c.1A>T (p.Met1Leu)
n.763A>T
1g.154571335T>ACA342630199CHRNB2c.512T>A (p.Met171Lys)
c.518T>A (p.Met173Lys)
c.2T>A (p.Met1Lys)
n.764T>A
1g.154571335T>CCA30834146CHRNB2c.512T>C (p.Met171Thr)
c.518T>C (p.Met173Thr)
c.2T>C (p.Met1Thr)
n.764T>C
 dbSNP
1g.154571335T>GCA342630200CHRNB2c.512T>G (p.Met171Arg)
c.518T>G (p.Met173Arg)
c.2T>G (p.Met1Arg)
n.764T>G
1g.154571335T=CA2480925221CHRNB2c.512T= (p.Met171=)
c.518T= (p.Met173=)
c.2T= (p.Met1=)
n.764T=
1g.154571336G>ACA342630203CHRNB2c.513G>A (p.Met171Ile)
c.519G>A (p.Met173Ile)
c.3G>A (p.Met1Ile)
n.765G>A
1g.154571336G>CCA342630202CHRNB2c.513G>C (p.Met171Ile)
c.519G>C (p.Met173Ile)
c.3G>C (p.Met1Ile)
n.765G>C
1g.154571336G>TCA342630201CHRNB2c.513G>T (p.Met171Ile)
c.519G>T (p.Met173Ile)
c.3G>T (p.Met1Ile)
n.765G>T
1g.154571337A>CCA342630204CHRNB2c.514A>C (p.Lys172Gln)
c.520A>C (p.Lys174Gln)
c.4A>C (p.Lys2Gln)
n.766A>C
1g.154571337A>GCA342630205CHRNB2c.514A>G (p.Lys172Glu)
c.520A>G (p.Lys174Glu)
c.4A>G (p.Lys2Glu)
n.766A>G
1g.154571337A>TCA342630206CHRNB2c.514A>T (p.Lys172Ter)
c.520A>T (p.Lys174Ter)
c.4A>T (p.Lys2Ter)
n.766A>T
1g.154571338A=CA2480925222CHRNB2c.515A= (p.Lys172=)
c.521A= (p.Lys174=)
c.5A= (p.Lys2=)
n.767A=
1g.154571338A>CCA342630207CHRNB2c.515A>C (p.Lys172Thr)
c.521A>C (p.Lys174Thr)
c.5A>C (p.Lys2Thr)
n.767A>C
1g.154571338A>GCA342630208CHRNB2c.515A>G (p.Lys172Arg)
c.521A>G (p.Lys174Arg)
c.5A>G (p.Lys2Arg)
n.767A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.154571338A>TCA342630209CHRNB2c.515A>T (p.Lys172Met)
c.521A>T (p.Lys174Met)
c.5A>T (p.Lys2Met)
n.767A>T
1g.154571339G>ACA421230911CHRNB2c.516G>A (p.Lys172=)
c.522G>A (p.Lys174=)
c.6G>A (p.Lys2=)
n.768G>A
 dbSNP gnomAD v2 gnomAD v4
1g.154571339G>CCA342630210CHRNB2c.516G>C (p.Lys172Asn)
c.522G>C (p.Lys174Asn)
c.6G>C (p.Lys2Asn)
n.768G>C
 dbSNP
1g.154571339G=CA2480925223CHRNB2c.516G= (p.Lys172=)
c.522G= (p.Lys174=)
c.6G= (p.Lys2=)
n.768G=
1g.154571339G>TCA342630211CHRNB2c.516G>T (p.Lys172Asn)
c.522G>T (p.Lys174Asn)
c.6G>T (p.Lys2Asn)
n.768G>T
1g.154571340T>ACA342630212CHRNB2c.517T>A (p.Phe173Ile)
c.523T>A (p.Phe175Ile)
c.7T>A (p.Phe3Ile)
n.769T>A
1g.154571340T>CCA342630213CHRNB2c.517T>C (p.Phe173Leu)
c.523T>C (p.Phe175Leu)
c.7T>C (p.Phe3Leu)
n.769T>C
 dbSNP gnomAD v3 gnomAD v4
1g.154571340T>GCA342630214CHRNB2c.517T>G (p.Phe173Val)
c.523T>G (p.Phe175Val)
c.7T>G (p.Phe3Val)
n.769T>G
1g.154571340T=CA2480925224CHRNB2c.517T= (p.Phe173=)
c.523T= (p.Phe175=)
c.7T= (p.Phe3=)
n.769T=
1g.154571340_154571343dupCA2648169730CHRNB2c.517_520dup (p.Arg174LeufsTer18)
c.523_526dup (p.Arg176LeufsTer18)
c.7_10dup (p.Arg4LeufsTer18)
n.769_772dup
 gnomAD v4
1g.154571341T>ACA342630215CHRNB2c.518T>A (p.Phe173Tyr)
c.524T>A (p.Phe175Tyr)
c.8T>A (p.Phe3Tyr)
n.770T>A
1g.154571341T>CCA342630216CHRNB2c.518T>C (p.Phe173Ser)
c.524T>C (p.Phe175Ser)
c.8T>C (p.Phe3Ser)
n.770T>C
1g.154571341T>GCA342630217CHRNB2c.518T>G (p.Phe173Cys)
c.524T>G (p.Phe175Cys)
c.8T>G (p.Phe3Cys)
n.770T>G
1g.154571342C>ACA342630219CHRNB2c.519C>A (p.Phe173Leu)
c.525C>A (p.Phe175Leu)
c.9C>A (p.Phe3Leu)
n.771C>A
1g.154571342C>GCA342630218CHRNB2c.519C>G (p.Phe173Leu)
c.525C>G (p.Phe175Leu)
c.9C>G (p.Phe3Leu)
n.771C>G
 gnomAD v4
1g.154571342C>TCA421230915CHRNB2c.519C>T (p.Phe173=)
c.525C>T (p.Phe175=)
c.9C>T (p.Phe3=)
n.771C>T
1g.154571343dupCA2697554563CHRNB2c.520dup (p.Arg174ProfsTer17)
c.526dup (p.Arg176ProfsTer17)
c.10dup (p.Arg4ProfsTer17)
n.772dup
 ClinVar
1g.154571343C>ACA342630220CHRNB2c.520C>A (p.Arg174Ser)
c.526C>A (p.Arg176Ser)
c.10C>A (p.Arg4Ser)
n.772C>A
1g.154571343C>GCA342630221CHRNB2c.520C>G (p.Arg174Gly)
c.526C>G (p.Arg176Gly)
c.10C>G (p.Arg4Gly)
n.772C>G
1g.154571343C>TCA342630222CHRNB2c.520C>T (p.Arg174Cys)
c.526C>T (p.Arg176Cys)
c.10C>T (p.Arg4Cys)
n.772C>T
 gnomAD v4 COSMIC
1g.154571344G>ACA30834149CHRNB2c.521G>A (p.Arg174His)
c.527G>A (p.Arg176His)
c.11G>A (p.Arg4His)
n.773G>A
 dbSNP
1g.154571344G>CCA342630223CHRNB2c.521G>C (p.Arg174Pro)
c.527G>C (p.Arg176Pro)
c.11G>C (p.Arg4Pro)
n.773G>C
 gnomAD v4
1g.154571344G=CA2480925225CHRNB2c.521G= (p.Arg174=)
c.527G= (p.Arg176=)
c.11G= (p.Arg4=)
n.773G=
1g.154571344G>TCA342630224CHRNB2c.521G>T (p.Arg174Leu)
c.527G>T (p.Arg176Leu)
c.11G>T (p.Arg4Leu)
n.773G>T
1g.154571345T>ACA421230918CHRNB2c.522T>A (p.Arg174=)
c.528T>A (p.Arg176=)
c.12T>A (p.Arg4=)
n.774T>A
1g.154571345T>CCA421230919CHRNB2c.522T>C (p.Arg174=)
c.528T>C (p.Arg176=)
c.12T>C (p.Arg4=)
n.774T>C
1g.154571345T>GCA421230920CHRNB2c.522T>G (p.Arg174=)
c.528T>G (p.Arg176=)
c.12T>G (p.Arg4=)
n.774T>G
1g.154571346T>ACA342630225CHRNB2c.523T>A (p.Ser175Thr)
c.529T>A (p.Ser177Thr)
c.13T>A (p.Ser5Thr)
n.775T>A
1g.154571346T>CCA342630226CHRNB2c.523T>C (p.Ser175Pro)
c.529T>C (p.Ser177Pro)
c.13T>C (p.Ser5Pro)
n.775T>C
1g.154571346T>GCA342630227CHRNB2c.523T>G (p.Ser175Ala)
c.529T>G (p.Ser177Ala)
c.13T>G (p.Ser5Ala)
n.775T>G
1g.154571347C>ACA342630228CHRNB2c.524C>A (p.Ser175Ter)
c.530C>A (p.Ser177Ter)
c.14C>A (p.Ser5Ter)
n.776C>A
1g.154571347C=CA1140959566CHRNB2c.524C= (p.Ser175=)
c.530C= (p.Ser177=)
c.14C= (p.Ser5=)
n.776C=
1g.154571347C>GCA30834161CHRNB2c.524C>G (p.Ser175Trp)
c.530C>G (p.Ser177Trp)
c.14C>G (p.Ser5Trp)
n.776C>G
 ClinVar dbSNP
1g.154571347C>TCA1130739CHRNB2c.524C>T (p.Ser175Leu)
c.530C>T (p.Ser177Leu)
c.14C>T (p.Ser5Leu)
n.776C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.154571348G>ACA1130740CHRNB2c.525G>A (p.Ser175=)
c.531G>A (p.Ser177=)
c.15G>A (p.Ser5=)
n.777G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.154571348G>CCA421230925CHRNB2c.525G>C (p.Ser175=)
c.531G>C (p.Ser177=)
c.15G>C (p.Ser5=)
n.777G>C
1g.154571348G=CA2480925226CHRNB2c.525G= (p.Ser175=)
c.531G= (p.Ser177=)
c.15G= (p.Ser5=)
n.777G=
1g.154571348G>TCA421230927CHRNB2c.525G>T (p.Ser175=)
c.531G>T (p.Ser177=)
c.15G>T (p.Ser5=)
n.777G>T
1g.154571349T>ACA342630231CHRNB2c.526T>A (p.Trp176Arg)
c.532T>A (p.Trp178Arg)
c.16T>A (p.Trp6Arg)
n.778T>A
1g.154571349T>CCA342630229CHRNB2c.526T>C (p.Trp176Arg)
c.532T>C (p.Trp178Arg)
c.16T>C (p.Trp6Arg)
n.778T>C
1g.154571349T>GCA342630230CHRNB2c.526T>G (p.Trp176Gly)
c.532T>G (p.Trp178Gly)
c.16T>G (p.Trp6Gly)
n.778T>G
1g.154571350G>ACA342630232CHRNB2c.527G>A (p.Trp176Ter)
c.533G>A (p.Trp178Ter)
c.17G>A (p.Trp6Ter)
n.779G>A
1g.154571350G>CCA342630234CHRNB2c.527G>C (p.Trp176Ser)
c.533G>C (p.Trp178Ser)
c.17G>C (p.Trp6Ser)
n.779G>C
1g.154571350G>TCA342630233CHRNB2c.527G>T (p.Trp176Leu)
c.533G>T (p.Trp178Leu)
c.17G>T (p.Trp6Leu)
n.779G>T
1g.154571351G>ACA342630235CHRNB2c.528G>A (p.Trp176Ter)
c.534G>A (p.Trp178Ter)
c.18G>A (p.Trp6Ter)
n.780G>A
1g.154571351G>CCA342630236CHRNB2c.528G>C (p.Trp176Cys)
c.534G>C (p.Trp178Cys)
c.18G>C (p.Trp6Cys)
n.780G>C
1g.154571351G>TCA342630237CHRNB2c.528G>T (p.Trp176Cys)
c.534G>T (p.Trp178Cys)
c.18G>T (p.Trp6Cys)
n.780G>T
1g.154571352A>CCA342630238CHRNB2c.529A>C (p.Thr177Pro)
c.535A>C (p.Thr179Pro)
c.19A>C (p.Thr7Pro)
n.781A>C
1g.154571352A>GCA342630240CHRNB2c.529A>G (p.Thr177Ala)
c.535A>G (p.Thr179Ala)
c.19A>G (p.Thr7Ala)
n.781A>G
1g.154571352A>TCA342630241CHRNB2c.529A>T (p.Thr177Ser)
c.535A>T (p.Thr179Ser)
c.19A>T (p.Thr7Ser)
n.781A>T
1g.154571353C>ACA342630242CHRNB2c.530C>A (p.Thr177Asn)
c.536C>A (p.Thr179Asn)
c.20C>A (p.Thr7Asn)
n.782C>A
1g.154571353C>GCA342630243CHRNB2c.530C>G (p.Thr177Ser)
c.536C>G (p.Thr179Ser)
c.20C>G (p.Thr7Ser)
n.782C>G
1g.154571353C>TCA342630244CHRNB2c.530C>T (p.Thr177Ile)
c.536C>T (p.Thr179Ile)
c.20C>T (p.Thr7Ile)
n.782C>T
1g.154571354C>ACA421230929CHRNB2c.531C>A (p.Thr177=)
c.537C>A (p.Thr179=)
c.21C>A (p.Thr7=)
n.783C>A
 ClinVar dbSNP
1g.154571354C>GCA421230930CHRNB2c.531C>G (p.Thr177=)
c.537C>G (p.Thr179=)
c.21C>G (p.Thr7=)
n.783C>G
1g.154571354C>TCA421230931CHRNB2c.531C>T (p.Thr177=)
c.537C>T (p.Thr179=)
c.21C>T (p.Thr7=)
n.783C>T
1g.154571355T>ACA342630245CHRNB2c.532T>A (p.Tyr178Asn)
c.538T>A (p.Tyr180Asn)
c.22T>A (p.Tyr8Asn)
n.784T>A
1g.154571355T>CCA342630246CHRNB2c.532T>C (p.Tyr178His)
c.538T>C (p.Tyr180His)
c.22T>C (p.Tyr8His)
n.784T>C
 gnomAD v4
1g.154571355T>GCA342630247CHRNB2c.532T>G (p.Tyr178Asp)
c.538T>G (p.Tyr180Asp)
c.22T>G (p.Tyr8Asp)
n.784T>G
1g.154571356A>CCA342630248CHRNB2c.533A>C (p.Tyr178Ser)
c.539A>C (p.Tyr180Ser)
c.23A>C (p.Tyr8Ser)
n.785A>C
1g.154571356A>GCA342630250CHRNB2c.533A>G (p.Tyr178Cys)
c.539A>G (p.Tyr180Cys)
c.23A>G (p.Tyr8Cys)
n.785A>G
 gnomAD v4
1g.154571356A>TCA342630249CHRNB2c.533A>T (p.Tyr178Phe)
c.539A>T (p.Tyr180Phe)
c.23A>T (p.Tyr8Phe)
n.785A>T
1g.154571357C>ACA342630252CHRNB2c.534C>A (p.Tyr178Ter)
c.540C>A (p.Tyr180Ter)
c.24C>A (p.Tyr8Ter)
n.786C>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.154571357C=CA2480925227CHRNB2c.534C= (p.Tyr178=)
c.540C= (p.Tyr180=)
c.24C= (p.Tyr8=)
n.786C=
1g.154571357C>GCA342630253CHRNB2c.534C>G (p.Tyr178Ter)
c.540C>G (p.Tyr180Ter)
c.24C>G (p.Tyr8Ter)
n.786C>G
1g.154571357C>TCA421230932CHRNB2c.534C>T (p.Tyr178=)
c.540C>T (p.Tyr180=)
c.24C>T (p.Tyr8=)
n.786C>T
 ClinVar dbSNP gnomAD v4
1g.154571358G>ACA1130741CHRNB2c.535G>A (p.Asp179Asn)
c.541G>A (p.Asp181Asn)
c.25G>A (p.Asp9Asn)
n.787G>A
 ClinVar dbSNP ExAC gnomAD v2
1g.154571358G>CCA342630254CHRNB2c.535G>C (p.Asp179His)
c.541G>C (p.Asp181His)
c.25G>C (p.Asp9His)
n.787G>C
 ClinVar gnomAD v4
1g.154571358G=CA2480925228CHRNB2c.535G= (p.Asp179=)
c.541G= (p.Asp181=)
c.25G= (p.Asp9=)
n.787G=
1g.154571358G>TCA342630255CHRNB2c.535G>T (p.Asp179Tyr)
c.541G>T (p.Asp181Tyr)
c.25G>T (p.Asp9Tyr)
n.787G>T
 gnomAD v4
1g.154571359A>CCA342630256CHRNB2c.536A>C (p.Asp179Ala)
c.542A>C (p.Asp181Ala)
c.26A>C (p.Asp9Ala)
n.788A>C
1g.154571359A>GCA342630257CHRNB2c.536A>G (p.Asp179Gly)
c.542A>G (p.Asp181Gly)
c.26A>G (p.Asp9Gly)
n.788A>G
 ClinVar gnomAD v4
1g.154571359A>TCA342630258CHRNB2c.536A>T (p.Asp179Val)
c.542A>T (p.Asp181Val)
c.26A>T (p.Asp9Val)
n.788A>T
1g.154571360C>ACA342630259CHRNB2c.537C>A (p.Asp179Glu)
c.543C>A (p.Asp181Glu)
c.27C>A (p.Asp9Glu)
n.789C>A
 gnomAD v4
1g.154571360C>GCA342630260CHRNB2c.537C>G (p.Asp179Glu)
c.543C>G (p.Asp181Glu)
c.27C>G (p.Asp9Glu)
n.789C>G
1g.154571360C>TCA421230933CHRNB2c.537C>T (p.Asp179=)
c.543C>T (p.Asp181=)
c.27C>T (p.Asp9=)
n.789C>T
1g.154571361C>ACA342630263CHRNB2c.538C>A (p.Arg180Ser)
c.544C>A (p.Arg182Ser)
c.28C>A (p.Arg10Ser)
n.790C>A
1g.154571361C=CA2480925229CHRNB2c.538C= (p.Arg180=)
c.544C= (p.Arg182=)
c.28C= (p.Arg10=)
n.790C=
1g.154571361C>GCA342630262CHRNB2c.538C>G (p.Arg180Gly)
c.544C>G (p.Arg182Gly)
c.28C>G (p.Arg10Gly)
n.790C>G
1g.154571361C>TCA342630261CHRNB2c.538C>T (p.Arg180Cys)
c.544C>T (p.Arg182Cys)
c.28C>T (p.Arg10Cys)
n.790C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.154571362G>ACA1130743CHRNB2c.539G>A (p.Arg180His)
c.545G>A (p.Arg182His)
c.29G>A (p.Arg10His)
n.791G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.154571362G>CCA342630264CHRNB2c.539G>C (p.Arg180Pro)
c.545G>C (p.Arg182Pro)
c.29G>C (p.Arg10Pro)
n.791G>C
 ClinVar dbSNP
1g.154571362G=CA2480925231CHRNB2c.539G= (p.Arg180=)
c.545G= (p.Arg182=)
c.29G= (p.Arg10=)
n.791G=
1g.154571362G>TCA342630265CHRNB2c.539G>T (p.Arg180Leu)
c.545G>T (p.Arg182Leu)
c.29G>T (p.Arg10Leu)
n.791G>T
 ClinVar gnomAD v4
1g.154571362_154571364delinsGCACA2480925230CHRNB2c.539_541delinsGCA (p.Arg180=)
c.545_547delinsGCA (p.Arg182=)
c.29_31delinsGCA (p.Arg10=)
n.791_793delinsGCA
1g.154571363C>ACA421230936CHRNB2c.540C>A (p.Arg180=)
c.546C>A (p.Arg182=)
c.30C>A (p.Arg10=)
n.792C>A
1g.154571363C>GCA421230935CHRNB2c.540C>G (p.Arg180=)
c.546C>G (p.Arg182=)
c.30C>G (p.Arg10=)
n.792C>G
1g.154571363C>TCA421230934CHRNB2c.540C>T (p.Arg180=)
c.546C>T (p.Arg182=)
c.30C>T (p.Arg10=)
n.792C>T
1g.154571365_154571366delCA1130742CHRNB2c.542_543del (p.Thr181ArgfsTer9)
c.548_549del (p.Thr183ArgfsTer9)
c.32_33del (p.Thr11ArgfsTer9)
n.794_795del
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.154571364A>CCA342630266CHRNB2c.541A>C (p.Thr181Pro)
c.547A>C (p.Thr183Pro)
c.31A>C (p.Thr11Pro)
n.793A>C
1g.154571364A>GCA342630267CHRNB2c.541A>G (p.Thr181Ala)
c.547A>G (p.Thr183Ala)
c.31A>G (p.Thr11Ala)
n.793A>G
1g.154571364A>TCA342630268CHRNB2c.541A>T (p.Thr181Ser)
c.547A>T (p.Thr183Ser)
c.31A>T (p.Thr11Ser)
n.793A>T
1g.154571365C>ACA342630269CHRNB2c.542C>A (p.Thr181Lys)
c.548C>A (p.Thr183Lys)
c.32C>A (p.Thr11Lys)
n.794C>A
1g.154571365C>GCA342630270CHRNB2c.542C>G (p.Thr181Arg)
c.548C>G (p.Thr183Arg)
c.32C>G (p.Thr11Arg)
n.794C>G
 gnomAD v4
1g.154571365C>TCA342630271CHRNB2c.542C>T (p.Thr181Ile)
c.548C>T (p.Thr183Ile)
c.32C>T (p.Thr11Ile)
n.794C>T
1g.154571366A=CA2480925233CHRNB2c.543A= (p.Thr181=)
c.549A= (p.Thr183=)
c.33A= (p.Thr11=)
n.795A=
1g.154571366A>CCA421230937CHRNB2c.543A>C (p.Thr181=)
c.549A>C (p.Thr183=)
c.33A>C (p.Thr11=)
n.795A>C
1g.154571366A>GCA421230938CHRNB2c.543A>G (p.Thr181=)
c.549A>G (p.Thr183=)
c.33A>G (p.Thr11=)
n.795A>G
 dbSNP gnomAD v4
1g.154571366A>TCA421230939CHRNB2c.543A>T (p.Thr181=)
c.549A>T (p.Thr183=)
c.33A>T (p.Thr11=)
n.795A>T
1g.154571366_154571367delinsAGCA2480925232CHRNB2c.543_544delinsAG (p.Thr181=)
c.549_550delinsAG (p.Thr183=)
c.33_34delinsAG (p.Thr11=)
n.795_796delinsAG
1g.154571367delCA2480925234CHRNB2c.544del (p.Glu182ArgfsTer6)
c.550del (p.Glu184ArgfsTer6)
c.34del (p.Glu12ArgfsTer6)
n.796del
 ClinVar dbSNP
1g.154571367G>ACA342630272CHRNB2c.544G>A (p.Glu182Lys)
c.550G>A (p.Glu184Lys)
c.34G>A (p.Glu12Lys)
n.796G>A
1g.154571367G>CCA342630273CHRNB2c.544G>C (p.Glu182Gln)
c.550G>C (p.Glu184Gln)
c.34G>C (p.Glu12Gln)
n.796G>C
1g.154571367G>TCA342630274CHRNB2c.544G>T (p.Glu182Ter)
c.550G>T (p.Glu184Ter)
c.34G>T (p.Glu12Ter)
n.796G>T
1g.154571368A>CCA342630277CHRNB2c.545A>C (p.Glu182Ala)
c.551A>C (p.Glu184Ala)
c.35A>C (p.Glu12Ala)
n.797A>C
1g.154571368A>GCA342630276CHRNB2c.545A>G (p.Glu182Gly)
c.551A>G (p.Glu184Gly)
c.35A>G (p.Glu12Gly)
n.797A>G
 gnomAD v4
1g.154571368A>TCA342630275CHRNB2c.545A>T (p.Glu182Val)
c.551A>T (p.Glu184Val)
c.35A>T (p.Glu12Val)
n.797A>T
1g.154571369G>ACA421230940CHRNB2c.546G>A (p.Glu182=)
c.552G>A (p.Glu184=)
c.36G>A (p.Glu12=)
n.798G>A
1g.154571369G>CCA342630278CHRNB2c.546G>C (p.Glu182Asp)
c.552G>C (p.Glu184Asp)
c.36G>C (p.Glu12Asp)
n.798G>C
1g.154571369G=CA1143368780CHRNB2c.546G= (p.Glu182=)
c.552G= (p.Glu184=)
c.36G= (p.Glu12=)
n.798G=
1g.154571369G>TCA30834187CHRNB2c.546G>T (p.Glu182Asp)
c.552G>T (p.Glu184Asp)
c.36G>T (p.Glu12Asp)
n.798G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.154571370A=CA2480925235CHRNB2c.547A= (p.Ile183=)
c.553A= (p.Ile185=)
c.37A= (p.Ile13=)
n.799A=
1g.154571370A>CCA342630279CHRNB2c.547A>C (p.Ile183Leu)
c.553A>C (p.Ile185Leu)
c.37A>C (p.Ile13Leu)
n.799A>C
1g.154571370A>GCA342630280CHRNB2c.547A>G (p.Ile183Val)
c.553A>G (p.Ile185Val)
c.37A>G (p.Ile13Val)
n.799A>G
1g.154571370A>TCA245973CHRNB2c.547A>T (p.Ile183Phe)
c.553A>T (p.Ile185Phe)
c.37A>T (p.Ile13Phe)
n.799A>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.154571371T>ACA342630281CHRNB2c.548T>A (p.Ile183Asn)
c.554T>A (p.Ile185Asn)
c.38T>A (p.Ile13Asn)
n.800T>A
1g.154571371T>CCA342630282CHRNB2c.548T>C (p.Ile183Thr)
c.554T>C (p.Ile185Thr)
c.38T>C (p.Ile13Thr)
n.800T>C
1g.154571371T>GCA342630283CHRNB2c.548T>G (p.Ile183Ser)
c.554T>G (p.Ile185Ser)
c.38T>G (p.Ile13Ser)
n.800T>G
1g.154571372C>ACA421230941CHRNB2c.549C>A (p.Ile183=)
c.555C>A (p.Ile185=)
c.39C>A (p.Ile13=)
n.801C>A
 ClinVar dbSNP gnomAD v4
1g.154571372C=CA2480925236CHRNB2c.549C= (p.Ile183=)
c.555C= (p.Ile185=)
c.39C= (p.Ile13=)
n.801C=
1g.154571372C>GCA313651CHRNB2c.549C>G (p.Ile183Met)
c.555C>G (p.Ile185Met)
c.39C>G (p.Ile13Met)
n.801C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.154571372C>TCA1130744CHRNB2c.549C>T (p.Ile183=)
c.555C>T (p.Ile185=)
c.39C>T (p.Ile13=)
n.801C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.154571373G>ACA342630287CHRNB2c.550G>A (p.Asp184Asn)
c.556G>A (p.Asp186Asn)
c.40G>A (p.Asp14Asn)
n.802G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.154571373G>CCA342630289CHRNB2c.550G>C (p.Asp184His)
c.556G>C (p.Asp186His)
c.40G>C (p.Asp14His)
n.802G>C
1g.154571373G=CA2480925237CHRNB2c.550G= (p.Asp184=)
c.556G= (p.Asp186=)
c.40G= (p.Asp14=)
n.802G=
1g.154571373G>TCA342630290CHRNB2c.550G>T (p.Asp184Tyr)
c.556G>T (p.Asp186Tyr)
c.40G>T (p.Asp14Tyr)
n.802G>T
1g.154571374A>CCA342630293CHRNB2c.551A>C (p.Asp184Ala)
c.557A>C (p.Asp186Ala)
c.41A>C (p.Asp14Ala)
n.803A>C
1g.154571374A>GCA342630295CHRNB2c.551A>G (p.Asp184Gly)
c.557A>G (p.Asp186Gly)
c.41A>G (p.Asp14Gly)
n.803A>G
1g.154571374A>TCA342630291CHRNB2c.551A>T (p.Asp184Val)
c.557A>T (p.Asp186Val)
c.41A>T (p.Asp14Val)
n.803A>T
1g.154571375C>ACA342630297CHRNB2c.552C>A (p.Asp184Glu)
c.558C>A (p.Asp186Glu)
c.42C>A (p.Asp14Glu)
n.804C>A
1g.154571375C=CA2480925238CHRNB2c.552C= (p.Asp184=)
c.558C= (p.Asp186=)
c.42C= (p.Asp14=)
n.804C=
1g.154571375C>GCA30834201CHRNB2c.552C>G (p.Asp184Glu)
c.558C>G (p.Asp186Glu)
c.42C>G (p.Asp14Glu)
n.804C>G
 dbSNP gnomAD v3 gnomAD v4
1g.154571375C>TCA421230942CHRNB2c.552C>T (p.Asp184=)
c.558C>T (p.Asp186=)
c.42C>T (p.Asp14=)
n.804C>T
 gnomAD v4
1g.154571376T>ACA342630302CHRNB2c.553T>A (p.Leu185Met)
c.559T>A (p.Leu187Met)
c.43T>A (p.Leu15Met)
n.805T>A
1g.154571376T>CCA421230943CHRNB2c.553T>C (p.Leu185=)
c.559T>C (p.Leu187=)
c.43T>C (p.Leu15=)
n.805T>C
 dbSNP gnomAD v2
1g.154571376T>GCA342630304CHRNB2c.553T>G (p.Leu185Val)
c.559T>G (p.Leu187Val)
c.43T>G (p.Leu15Val)
n.805T>G
1g.154571376T=CA2480925239CHRNB2c.553T= (p.Leu185=)
c.559T= (p.Leu187=)
c.43T= (p.Leu15=)
n.805T=
1g.154571377T>ACA342630306CHRNB2c.554T>A (p.Leu185Ter)
c.560T>A (p.Leu187Ter)
c.44T>A (p.Leu15Ter)
n.806T>A
1g.154571377T>CCA342630307CHRNB2c.554T>C (p.Leu185Ser)
c.560T>C (p.Leu187Ser)
c.44T>C (p.Leu15Ser)
n.806T>C
 ClinVar dbSNP
1g.154571377T>GCA342630308CHRNB2c.554T>G (p.Leu185Trp)
c.560T>G (p.Leu187Trp)
c.44T>G (p.Leu15Trp)
n.806T>G
1g.154571377T=CA2480925240CHRNB2c.554T= (p.Leu185=)
c.560T= (p.Leu187=)
c.44T= (p.Leu15=)
n.806T=
1g.154571378G>ACA421230944CHRNB2c.555G>A (p.Leu185=)
c.561G>A (p.Leu187=)
c.45G>A (p.Leu15=)
n.807G>A
1g.154571378G>CCA342630310CHRNB2c.555G>C (p.Leu185Phe)
c.561G>C (p.Leu187Phe)
c.45G>C (p.Leu15Phe)
n.807G>C
1g.154571378G>TCA342630313CHRNB2c.555G>T (p.Leu185Phe)
c.561G>T (p.Leu187Phe)
c.45G>T (p.Leu15Phe)
n.807G>T
1g.154571379G>ACA342630315CHRNB2c.556G>A (p.Val186Met)
c.562G>A (p.Val188Met)
c.46G>A (p.Val16Met)
n.808G>A
 gnomAD v4
1g.154571379G>CCA342630317CHRNB2c.556G>C (p.Val186Leu)
c.562G>C (p.Val188Leu)
c.46G>C (p.Val16Leu)
n.808G>C
1g.154571379G>TCA342630319CHRNB2c.556G>T (p.Val186Leu)
c.562G>T (p.Val188Leu)
c.46G>T (p.Val16Leu)
n.808G>T
 gnomAD v4
1g.154571380T>ACA342630321CHRNB2c.557T>A (p.Val186Glu)
c.563T>A (p.Val188Glu)
c.47T>A (p.Val16Glu)
n.809T>A
1g.154571380T>CCA342630322CHRNB2c.557T>C (p.Val186Ala)
c.563T>C (p.Val188Ala)
c.47T>C (p.Val16Ala)
n.809T>C
1g.154571380T>GCA342630324CHRNB2c.557T>G (p.Val186Gly)
c.563T>G (p.Val188Gly)
c.47T>G (p.Val16Gly)
n.809T>G
1g.154571381G>ACA421230945CHRNB2c.558G>A (p.Val186=)
c.564G>A (p.Val188=)
c.48G>A (p.Val16=)
n.810G>A
1g.154571381G>CCA421230946CHRNB2c.558G>C (p.Val186=)
c.564G>C (p.Val188=)
c.48G>C (p.Val16=)
n.810G>C
1g.154571381G>TCA421230947CHRNB2c.558G>T (p.Val186=)
c.564G>T (p.Val188=)
c.48G>T (p.Val16=)
n.810G>T
1g.154571382C>ACA342630328CHRNB2c.559C>A (p.Leu187Met)
c.565C>A (p.Leu189Met)
c.49C>A (p.Leu17Met)
n.811C>A
1g.154571382C=CA2480925241CHRNB2c.559C= (p.Leu187=)
c.565C= (p.Leu189=)
c.49C= (p.Leu17=)
n.811C=
1g.154571382C>GCA342630326CHRNB2c.559C>G (p.Leu187Val)
c.565C>G (p.Leu189Val)
c.49C>G (p.Leu17Val)
n.811C>G
1g.154571382C>TCA421230948CHRNB2c.559C>T (p.Leu187=)
c.565C>T (p.Leu189=)
c.49C>T (p.Leu17=)
n.811C>T
 dbSNP gnomAD v2 gnomAD v4
1g.154571382_154571386delinsCTGAACA2480925242CHRNB2c.559_563delinsCTGAA (p.Leu187=)
c.565_569delinsCTGAA (p.Leu189=)
c.49_53delinsCTGAA (p.Leu17=)
n.811_815delinsCTGAA
1g.154571383T>ACA342630331CHRNB2c.560T>A (p.Leu187Gln)
c.566T>A (p.Leu189Gln)
c.50T>A (p.Leu17Gln)
n.812T>A
1g.154571383T>CCA342630333CHRNB2c.560T>C (p.Leu187Pro)
c.566T>C (p.Leu189Pro)
c.50T>C (p.Leu17Pro)
n.812T>C
1g.154571383T>GCA342630334CHRNB2c.560T>G (p.Leu187Arg)
c.566T>G (p.Leu189Arg)
c.50T>G (p.Leu17Arg)
n.812T>G
1g.154571383_154571386delCA2480925243CHRNB2c.560_563del (p.Leu187ArgfsTer?)
c.566_569del (p.Leu189ArgfsTer?)
c.50_53del (p.Leu17ArgfsTer?)
n.812_815del
 dbSNP
1g.154571384G>ACA421230951CHRNB2c.561G>A (p.Leu187=)
c.567G>A (p.Leu189=)
c.51G>A (p.Leu17=)
n.813G>A
 gnomAD v4
1g.154571384G>CCA421230949CHRNB2c.561G>C (p.Leu187=)
c.567G>C (p.Leu189=)
c.51G>C (p.Leu17=)
n.813G>C
1g.154571384G=CA2480925244CHRNB2c.561G= (p.Leu187=)
c.567G= (p.Leu189=)
c.51G= (p.Leu17=)
n.813G=
1g.154571384G>TCA421230950CHRNB2c.561G>T (p.Leu187=)
c.567G>T (p.Leu189=)
c.51G>T (p.Leu17=)
n.813G>T
1g.154571385A>CCA342630338CHRNB2c.562A>C (p.Lys188Gln)
c.568A>C (p.Lys190Gln)
c.52A>C (p.Lys18Gln)
n.814A>C
1g.154571385A>GCA342630340CHRNB2c.562A>G (p.Lys188Glu)
c.568A>G (p.Lys190Glu)
c.52A>G (p.Lys18Glu)
n.814A>G
1g.154571385A>TCA342630342CHRNB2c.562A>T (p.Lys188Ter)
c.568A>T (p.Lys190Ter)
c.52A>T (p.Lys18Ter)
n.814A>T
1g.154571386dupCA1007941553CHRNB2c.563dup (p.Ser189GlufsTer2)
c.569dup (p.Ser191GlufsTer2)
c.53dup (p.Ser19GlufsTer2)
n.815dup
 dbSNP gnomAD v3 gnomAD v4
1g.154571386A>CCA342630345CHRNB2c.563A>C (p.Lys188Thr)
c.569A>C (p.Lys190Thr)
c.53A>C (p.Lys18Thr)
n.815A>C
1g.154571386A>GCA342630347CHRNB2c.563A>G (p.Lys188Arg)
c.569A>G (p.Lys190Arg)
c.53A>G (p.Lys18Arg)
n.815A>G
1g.154571386A>TCA342630349CHRNB2c.563A>T (p.Lys188Met)
c.569A>T (p.Lys190Met)
c.53A>T (p.Lys18Met)
n.815A>T
1g.154571387G>ACA421230952CHRNB2c.564G>A (p.Lys188=)
c.570G>A (p.Lys190=)
c.54G>A (p.Lys18=)
n.816G>A
 gnomAD v4
1g.154571387G>CCA342630352CHRNB2c.564G>C (p.Lys188Asn)
c.570G>C (p.Lys190Asn)
c.54G>C (p.Lys18Asn)
n.816G>C
1g.154571387G>TCA342630354CHRNB2c.564G>T (p.Lys188Asn)
c.570G>T (p.Lys190Asn)
c.54G>T (p.Lys18Asn)
n.816G>T
 COSMIC
1g.154571388A>CCA342630360CHRNB2c.565A>C (p.Ser189Arg)
c.571A>C (p.Ser191Arg)
c.55A>C (p.Ser19Arg)
n.817A>C
1g.154571388A>GCA342630362CHRNB2c.565A>G (p.Ser189Gly)
c.571A>G (p.Ser191Gly)
c.55A>G (p.Ser19Gly)
n.817A>G
 gnomAD v4
1g.154571388A>TCA342630357CHRNB2c.565A>T (p.Ser189Cys)
c.571A>T (p.Ser191Cys)
c.55A>T (p.Ser19Cys)
n.817A>T
1g.154571389G>ACA342630365CHRNB2c.566G>A (p.Ser189Asn)
c.572G>A (p.Ser191Asn)
c.56G>A (p.Ser19Asn)
n.818G>A
1g.154571389G>CCA342630366CHRNB2c.566G>C (p.Ser189Thr)
c.572G>C (p.Ser191Thr)
c.56G>C (p.Ser19Thr)
n.818G>C
1g.154571389G>TCA342630367CHRNB2c.566G>T (p.Ser189Ile)
c.572G>T (p.Ser191Ile)
c.56G>T (p.Ser19Ile)
n.818G>T
1g.154571390T>ACA342630368CHRNB2c.567T>A (p.Ser189Arg)
c.573T>A (p.Ser191Arg)
c.57T>A (p.Ser19Arg)
n.819T>A
1g.154571390T>CCA421230954CHRNB2c.567T>C (p.Ser189=)
c.573T>C (p.Ser191=)
c.57T>C (p.Ser19=)
n.819T>C
1g.154571390T>GCA342630369CHRNB2c.567T>G (p.Ser189Arg)
c.573T>G (p.Ser191Arg)
c.57T>G (p.Ser19Arg)
n.819T>G
1g.154571391G>ACA342630372CHRNB2c.568G>A (p.Glu190Lys)
c.574G>A (p.Glu192Lys)
c.58G>A (p.Glu20Lys)
n.820G>A
1g.154571391G>CCA342630370CHRNB2c.568G>C (p.Glu190Gln)
c.574G>C (p.Glu192Gln)
c.58G>C (p.Glu20Gln)
n.820G>C
1g.154571391G=CA2480925245CHRNB2c.568G= (p.Glu190=)
c.574G= (p.Glu192=)
c.58G= (p.Glu20=)
n.820G=
1g.154571391G>TCA342630371CHRNB2c.568G>T (p.Glu190Ter)
c.574G>T (p.Glu192Ter)
c.58G>T (p.Glu20Ter)
n.820G>T
 dbSNP gnomAD v2 gnomAD v4
1g.154571392A>CCA342630373CHRNB2c.569A>C (p.Glu190Ala)
c.575A>C (p.Glu192Ala)
c.59A>C (p.Glu20Ala)
n.821A>C
1g.154571392A>GCA342630374CHRNB2c.569A>G (p.Glu190Gly)
c.575A>G (p.Glu192Gly)
c.59A>G (p.Glu20Gly)
n.821A>G
1g.154571392A>TCA342630375CHRNB2c.569A>T (p.Glu190Val)
c.575A>T (p.Glu192Val)
c.59A>T (p.Glu20Val)
n.821A>T
1g.154571393G>ACA421231004CHRNB2c.570G>A (p.Glu190=)
c.576G>A (p.Glu192=)
c.60G>A (p.Glu20=)
n.822G>A
 gnomAD v4
1g.154571393G>CCA342630376CHRNB2c.570G>C (p.Glu190Asp)
c.576G>C (p.Glu192Asp)
c.60G>C (p.Glu20Asp)
n.822G>C
1g.154571393G>TCA342630377CHRNB2c.570G>T (p.Glu190Asp)
c.576G>T (p.Glu192Asp)
c.60G>T (p.Glu20Asp)
n.822G>T
 COSMIC
1g.154571394G>ACA342630378CHRNB2c.571G>A (p.Val191Met)
c.577G>A (p.Val193Met)
c.61G>A (p.Val21Met)
n.823G>A
1g.154571394G>CCA342630380CHRNB2c.571G>C (p.Val191Leu)
c.577G>C (p.Val193Leu)
c.61G>C (p.Val21Leu)
n.823G>C
1g.154571394G>TCA342630379CHRNB2c.571G>T (p.Val191Leu)
c.577G>T (p.Val193Leu)
c.61G>T (p.Val21Leu)
n.823G>T
 ClinVar dbSNP
1g.154571395T>ACA342630381CHRNB2c.572T>A (p.Val191Glu)
c.578T>A (p.Val193Glu)
c.62T>A (p.Val21Glu)
n.824T>A
1g.154571395T>CCA342630382CHRNB2c.572T>C (p.Val191Ala)
c.578T>C (p.Val193Ala)
c.62T>C (p.Val21Ala)
n.824T>C
1g.154571395T>GCA342630383CHRNB2c.572T>G (p.Val191Gly)
c.578T>G (p.Val193Gly)
c.62T>G (p.Val21Gly)
n.824T>G
1g.154571396G>ACA421231006CHRNB2c.573G>A (p.Val191=)
c.579G>A (p.Val193=)
c.63G>A (p.Val21=)
n.825G>A
1g.154571396G>CCA421231008CHRNB2c.573G>C (p.Val191=)
c.579G>C (p.Val193=)
c.63G>C (p.Val21=)
n.825G>C
1g.154571396G>TCA421231009CHRNB2c.573G>T (p.Val191=)
c.579G>T (p.Val193=)
c.63G>T (p.Val21=)
n.825G>T
1g.154571397delCA2648169931CHRNB2c.574del (p.Ala192ProfsTer?)
c.580del (p.Ala194ProfsTer?)
c.64del (p.Ala22ProfsTer?)
n.826del
 gnomAD v4
1g.154571397G>ACA342630384CHRNB2c.574G>A (p.Ala192Thr)
c.580G>A (p.Ala194Thr)
c.64G>A (p.Ala22Thr)
n.826G>A
1g.154571397G>CCA342630385CHRNB2c.574G>C (p.Ala192Pro)
c.580G>C (p.Ala194Pro)
c.64G>C (p.Ala22Pro)
n.826G>C
1g.154571397G>TCA342630386CHRNB2c.574G>T (p.Ala192Ser)
c.580G>T (p.Ala194Ser)
c.64G>T (p.Ala22Ser)
n.826G>T
1g.154571398C>ACA342630387CHRNB2c.575C>A (p.Ala192Asp)
c.581C>A (p.Ala194Asp)
c.65C>A (p.Ala22Asp)
n.827C>A
1g.154571398C>GCA342630388CHRNB2c.575C>G (p.Ala192Gly)
c.581C>G (p.Ala194Gly)
c.65C>G (p.Ala22Gly)
n.827C>G
 gnomAD v4
1g.154571398C>TCA342630389CHRNB2c.575C>T (p.Ala192Val)
c.581C>T (p.Ala194Val)
c.65C>T (p.Ala22Val)
n.827C>T
1g.154571399C>ACA421231013CHRNB2c.576C>A (p.Ala192=)
c.582C>A (p.Ala194=)
c.66C>A (p.Ala22=)
n.828C>A
1g.154571399C>GCA421231014CHRNB2c.576C>G (p.Ala192=)
c.582C>G (p.Ala194=)
c.66C>G (p.Ala22=)
n.828C>G
1g.154571399C>TCA421231015CHRNB2c.576C>T (p.Ala192=)
c.582C>T (p.Ala194=)
c.66C>T (p.Ala22=)
n.828C>T
 gnomAD v4
1g.154571400A>CCA342630390CHRNB2c.577A>C (p.Ser193Arg)
c.583A>C (p.Ser195Arg)
c.67A>C (p.Ser23Arg)
n.829A>C
1g.154571400A>GCA342630391CHRNB2c.577A>G (p.Ser193Gly)
c.583A>G (p.Ser195Gly)
c.67A>G (p.Ser23Gly)
n.829A>G
 gnomAD v4
1g.154571400A>TCA342630392CHRNB2c.577A>T (p.Ser193Cys)
c.583A>T (p.Ser195Cys)
c.67A>T (p.Ser23Cys)
n.829A>T
 gnomAD v4
1g.154571401G>ACA342630394CHRNB2c.578G>A (p.Ser193Asn)
c.584G>A (p.Ser195Asn)
c.68G>A (p.Ser23Asn)
n.830G>A
1g.154571401G>CCA342630395CHRNB2c.578G>C (p.Ser193Thr)
c.584G>C (p.Ser195Thr)
c.68G>C (p.Ser23Thr)
n.830G>C
1g.154571401G>TCA342630393CHRNB2c.578G>T (p.Ser193Ile)
c.584G>T (p.Ser195Ile)
c.68G>T (p.Ser23Ile)
n.830G>T
 ClinVar dbSNP
1g.154571402C>ACA342630397CHRNB2c.579C>A (p.Ser193Arg)
c.585C>A (p.Ser195Arg)
c.69C>A (p.Ser23Arg)
n.831C>A
1g.154571402C>GCA342630396CHRNB2c.579C>G (p.Ser193Arg)
c.585C>G (p.Ser195Arg)
c.69C>G (p.Ser23Arg)
n.831C>G
1g.154571402C>TCA421231022CHRNB2c.579C>T (p.Ser193=)
c.585C>T (p.Ser195=)
c.69C>T (p.Ser23=)
n.831C>T
1g.154571403C>ACA342630398CHRNB2c.580C>A (p.Leu194Met)
c.586C>A (p.Leu196Met)
c.70C>A (p.Leu24Met)
n.832C>A
 COSMIC
1g.154571403C=CA2480925246CHRNB2c.580C= (p.Leu194=)
c.586C= (p.Leu196=)
c.70C= (p.Leu24=)
n.832C=
1g.154571403C>GCA342630399CHRNB2c.580C>G (p.Leu194Val)
c.586C>G (p.Leu196Val)
c.70C>G (p.Leu24Val)
n.832C>G
 dbSNP
1g.154571403C>TCA421231025CHRNB2c.580C>T (p.Leu194=)
c.586C>T (p.Leu196=)
c.70C>T (p.Leu24=)
n.832C>T
 gnomAD v4
1g.154571404T>ACA342630400CHRNB2c.581T>A (p.Leu194Gln)
c.587T>A (p.Leu196Gln)
c.71T>A (p.Leu24Gln)
n.833T>A
1g.154571404T>CCA342630401CHRNB2c.581T>C (p.Leu194Pro)
c.587T>C (p.Leu196Pro)
c.71T>C (p.Leu24Pro)
n.833T>C
1g.154571404T>GCA342630402CHRNB2c.581T>G (p.Leu194Arg)
c.587T>G (p.Leu196Arg)
c.71T>G (p.Leu24Arg)
n.833T>G
1g.154571405G>ACA421231026CHRNB2c.582G>A (p.Leu194=)
c.588G>A (p.Leu196=)
c.72G>A (p.Leu24=)
n.834G>A
1g.154571405G>CCA421231027CHRNB2c.582G>C (p.Leu194=)
c.588G>C (p.Leu196=)
c.72G>C (p.Leu24=)
n.834G>C
1g.154571405G>TCA421231029CHRNB2c.582G>T (p.Leu194=)
c.588G>T (p.Leu196=)
c.72G>T (p.Leu24=)
n.834G>T
1g.154571406G>ACA342630403CHRNB2c.583G>A (p.Asp195Asn)
c.589G>A (p.Asp197Asn)
c.73G>A (p.Asp25Asn)
n.835G>A
1g.154571406G>CCA342630404CHRNB2c.583G>C (p.Asp195His)
c.589G>C (p.Asp197His)
c.73G>C (p.Asp25His)
n.835G>C
1g.154571406G>TCA342630405CHRNB2c.583G>T (p.Asp195Tyr)
c.589G>T (p.Asp197Tyr)
c.73G>T (p.Asp25Tyr)
n.835G>T
1g.154571409_154571411delCA2573914294CHRNB2c.586_588del (p.Asp196del)
c.592_594del (p.Asp198del)
c.76_78del (p.Asp26del)
n.838_840del
1g.154571407A>CCA342630406CHRNB2c.584A>C (p.Asp195Ala)
c.590A>C (p.Asp197Ala)
c.74A>C (p.Asp25Ala)
n.836A>C
1g.154571407A>GCA342630407CHRNB2c.584A>G (p.Asp195Gly)
c.590A>G (p.Asp197Gly)
c.74A>G (p.Asp25Gly)
n.836A>G
1g.154571407A>TCA342630408CHRNB2c.584A>T (p.Asp195Val)
c.590A>T (p.Asp197Val)
c.74A>T (p.Asp25Val)
n.836A>T
1g.154571408C>ACA342630410CHRNB2c.585C>A (p.Asp195Glu)
c.591C>A (p.Asp197Glu)
c.75C>A (p.Asp25Glu)
n.837C>A
1g.154571408C=CA2480925247CHRNB2c.585C= (p.Asp195=)
c.591C= (p.Asp197=)
c.75C= (p.Asp25=)
n.837C=
1g.154571408C>GCA342630409CHRNB2c.585C>G (p.Asp195Glu)
c.591C>G (p.Asp197Glu)
c.75C>G (p.Asp25Glu)
n.837C>G
1g.154571408C>TCA1130745CHRNB2c.585C>T (p.Asp195=)
c.591C>T (p.Asp197=)
c.75C>T (p.Asp25=)
n.837C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.154571409G>ACA342630411CHRNB2c.586G>A (p.Asp196Asn)
c.592G>A (p.Asp198Asn)
c.76G>A (p.Asp26Asn)
n.838G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC
1g.154571409G>CCA342630412CHRNB2c.586G>C (p.Asp196His)
c.592G>C (p.Asp198His)
c.76G>C (p.Asp26His)
n.838G>C
1g.154571409G=CA2480925248CHRNB2c.586G= (p.Asp196=)
c.592G= (p.Asp198=)
c.76G= (p.Asp26=)
n.838G=
1g.154571409G>TCA342630413CHRNB2c.586G>T (p.Asp196Tyr)
c.592G>T (p.Asp198Tyr)
c.76G>T (p.Asp26Tyr)
n.838G>T
 COSMIC
1g.154571410A>CCA342630414CHRNB2c.587A>C (p.Asp196Ala)
c.593A>C (p.Asp198Ala)
c.77A>C (p.Asp26Ala)
n.839A>C
1g.154571410A>GCA342630415CHRNB2c.587A>G (p.Asp196Gly)
c.593A>G (p.Asp198Gly)
c.77A>G (p.Asp26Gly)
n.839A>G
1g.154571410A>TCA342630416CHRNB2c.587A>T (p.Asp196Val)
c.593A>T (p.Asp198Val)
c.77A>T (p.Asp26Val)
n.839A>T
1g.154571411C>ACA342630417CHRNB2c.588C>A (p.Asp196Glu)
c.594C>A (p.Asp198Glu)
c.78C>A (p.Asp26Glu)
n.840C>A
1g.154571411C>GCA342630418CHRNB2c.588C>G (p.Asp196Glu)
c.594C>G (p.Asp198Glu)
c.78C>G (p.Asp26Glu)
n.840C>G
1g.154571411C>TCA421231040CHRNB2c.588C>T (p.Asp196=)
c.594C>T (p.Asp198=)
c.78C>T (p.Asp26=)
n.840C>T
1g.154571412T>ACA342630419CHRNB2c.589T>A (p.Phe197Ile)
c.595T>A (p.Phe199Ile)
c.79T>A (p.Phe27Ile)
n.841T>A
1g.154571412T>CCA342630420CHRNB2c.589T>C (p.Phe197Leu)
c.595T>C (p.Phe199Leu)
c.79T>C (p.Phe27Leu)
n.841T>C
1g.154571412T>GCA342630421CHRNB2c.589T>G (p.Phe197Val)
c.595T>G (p.Phe199Val)
c.79T>G (p.Phe27Val)
n.841T>G
1g.154571413T>ACA342630423CHRNB2c.590T>A (p.Phe197Tyr)
c.596T>A (p.Phe199Tyr)
c.80T>A (p.Phe27Tyr)
n.842T>A
1g.154571413T>CCA342630424CHRNB2c.590T>C (p.Phe197Ser)
c.596T>C (p.Phe199Ser)
c.80T>C (p.Phe27Ser)
n.842T>C
 dbSNP
1g.154571413T>GCA342630422CHRNB2c.590T>G (p.Phe197Cys)
c.596T>G (p.Phe199Cys)
c.80T>G (p.Phe27Cys)
n.842T>G
1g.154571414C>ACA342630425CHRNB2c.591C>A (p.Phe197Leu)
c.597C>A (p.Phe199Leu)
c.81C>A (p.Phe27Leu)
n.843C>A
1g.154571414C>GCA342630426CHRNB2c.591C>G (p.Phe197Leu)
c.597C>G (p.Phe199Leu)
c.81C>G (p.Phe27Leu)
n.843C>G
1g.154571414C>TCA421231047CHRNB2c.591C>T (p.Phe197=)
c.597C>T (p.Phe199=)
c.81C>T (p.Phe27=)
n.843C>T
 gnomAD v4
1g.154571415A>CCA342630427CHRNB2c.592A>C (p.Thr198Pro)
c.598A>C (p.Thr200Pro)
c.82A>C (p.Thr28Pro)
n.844A>C
1g.154571415A>GCA342630428CHRNB2c.592A>G (p.Thr198Ala)
c.598A>G (p.Thr200Ala)
c.82A>G (p.Thr28Ala)
n.844A>G
 gnomAD v4
1g.154571415A>TCA342630429CHRNB2c.592A>T (p.Thr198Ser)
c.598A>T (p.Thr200Ser)
c.82A>T (p.Thr28Ser)
n.844A>T
 gnomAD v4
1g.154571416C>ACA342630430CHRNB2c.593C>A (p.Thr198Lys)
c.599C>A (p.Thr200Lys)
c.83C>A (p.Thr28Lys)
n.845C>A
1g.154571416C=CA1143427474CHRNB2c.593C= (p.Thr198=)
c.599C= (p.Thr200=)
c.83C= (p.Thr28=)
n.845C=
1g.154571416C>GCA342630431CHRNB2c.593C>G (p.Thr198Arg)
c.599C>G (p.Thr200Arg)
c.83C>G (p.Thr28Arg)
n.845C>G
1g.154571416C>TCA30834216CHRNB2c.593C>T (p.Thr198Ile)
c.599C>T (p.Thr200Ile)
c.83C>T (p.Thr28Ile)
n.845C>T
 ClinVar dbSNP gnomAD v4
1g.154571417A=CA1149154710CHRNB2c.594A= (p.Thr198=)
c.600A= (p.Thr200=)
c.84A= (p.Thr28=)
n.846A=
1g.154571417A>CCA421231054CHRNB2c.594A>C (p.Thr198=)
c.600A>C (p.Thr200=)
c.84A>C (p.Thr28=)
n.846A>C
1g.154571417A>GCA1130746CHRNB2c.594A>G (p.Thr198=)
c.600A>G (p.Thr200=)
c.84A>G (p.Thr28=)
n.846A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.154571417A>TCA421231056CHRNB2c.594A>T (p.Thr198=)
c.600A>T (p.Thr200=)
c.84A>T (p.Thr28=)
n.846A>T
1g.154571418C>ACA342630432CHRNB2c.595C>A (p.Pro199Thr)
c.601C>A (p.Pro201Thr)
c.85C>A (p.Pro29Thr)
n.847C>A
1g.154571418C>GCA342630433CHRNB2c.595C>G (p.Pro199Ala)
c.601C>G (p.Pro201Ala)
c.85C>G (p.Pro29Ala)
n.847C>G
1g.154571418C>TCA342630434CHRNB2c.595C>T (p.Pro199Ser)
c.601C>T (p.Pro201Ser)
c.85C>T (p.Pro29Ser)
n.847C>T
1g.154571419C>ACA342630436CHRNB2c.596C>A (p.Pro199His)
c.602C>A (p.Pro201His)
c.86C>A (p.Pro29His)
n.848C>A
1g.154571419C>GCA342630437CHRNB2c.596C>G (p.Pro199Arg)
c.602C>G (p.Pro201Arg)
c.86C>G (p.Pro29Arg)
n.848C>G
1g.154571419C>TCA342630435CHRNB2c.596C>T (p.Pro199Leu)
c.602C>T (p.Pro201Leu)
c.86C>T (p.Pro29Leu)
n.848C>T
1g.154571420T>ACA421231061CHRNB2c.597T>A (p.Pro199=)
c.603T>A (p.Pro201=)
c.87T>A (p.Pro29=)
n.849T>A
1g.154571420T>CCA421231063CHRNB2c.597T>C (p.Pro199=)
c.603T>C (p.Pro201=)
c.87T>C (p.Pro29=)
n.849T>C
1g.154571420T>GCA421231064CHRNB2c.597T>G (p.Pro199=)
c.603T>G (p.Pro201=)
c.87T>G (p.Pro29=)
n.849T>G
1g.154571421A>CCA342630438CHRNB2c.598A>C (p.Ser200Arg)
c.604A>C (p.Ser202Arg)
c.88A>C (p.Ser30Arg)
n.850A>C
1g.154571421A>GCA342630439CHRNB2c.598A>G (p.Ser200Gly)
c.604A>G (p.Ser202Gly)
c.88A>G (p.Ser30Gly)
n.850A>G
1g.154571421A>TCA342630440CHRNB2c.598A>T (p.Ser200Cys)
c.604A>T (p.Ser202Cys)
c.88A>T (p.Ser30Cys)
n.850A>T
1g.154571422G>ACA342630441CHRNB2c.599G>A (p.Ser200Asn)
c.605G>A (p.Ser202Asn)
c.89G>A (p.Ser30Asn)
n.851G>A
 ClinVar dbSNP gnomAD v4
1g.154571422G>CCA1130747CHRNB2c.599G>C (p.Ser200Thr)
c.605G>C (p.Ser202Thr)
c.89G>C (p.Ser30Thr)
n.851G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.154571422G=CA2480925249CHRNB2c.599G= (p.Ser200=)
c.605G= (p.Ser202=)
c.89G= (p.Ser30=)
n.851G=
1g.154571422G>TCA342630442CHRNB2c.599G>T (p.Ser200Ile)
c.605G>T (p.Ser202Ile)
c.89G>T (p.Ser30Ile)
n.851G>T
1g.154571423T>ACA342630444CHRNB2c.600T>A (p.Ser200Arg)
c.606T>A (p.Ser202Arg)
c.90T>A (p.Ser30Arg)
n.852T>A
1g.154571423T>CCA421231071CHRNB2c.600T>C (p.Ser200=)
c.606T>C (p.Ser202=)
c.90T>C (p.Ser30=)
n.852T>C
 dbSNP gnomAD v4
1g.154571423T>GCA342630443CHRNB2c.600T>G (p.Ser200Arg)
c.606T>G (p.Ser202Arg)
c.90T>G (p.Ser30Arg)
n.852T>G
1g.154571424G>ACA342630445CHRNB2c.601G>A (p.Gly201Ser)
c.607G>A (p.Gly203Ser)
c.91G>A (p.Gly31Ser)
n.853G>A
1g.154571424G>CCA342630446CHRNB2c.601G>C (p.Gly201Arg)
c.607G>C (p.Gly203Arg)
c.91G>C (p.Gly31Arg)
n.853G>C
1g.154571424G>TCA342630447CHRNB2c.601G>T (p.Gly201Cys)
c.607G>T (p.Gly203Cys)
c.91G>T (p.Gly31Cys)
n.853G>T
1g.154571425G>ACA1130748CHRNB2c.602G>A (p.Gly201Asp)
c.608G>A (p.Gly203Asp)
c.92G>A (p.Gly31Asp)
n.854G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.154571425G>CCA342630448CHRNB2c.602G>C (p.Gly201Ala)
c.608G>C (p.Gly203Ala)
c.92G>C (p.Gly31Ala)
n.854G>C
1g.154571425G=CA2480925250CHRNB2c.602G= (p.Gly201=)
c.608G= (p.Gly203=)
c.92G= (p.Gly31=)
n.854G=
1g.154571425G>TCA342630449CHRNB2c.602G>T (p.Gly201Val)
c.608G>T (p.Gly203Val)
c.92G>T (p.Gly31Val)
n.854G>T
1g.154571426T>ACA421231078CHRNB2c.603T>A (p.Gly201=)
c.609T>A (p.Gly203=)
c.93T>A (p.Gly31=)
n.855T>A
1g.154571426T>CCA421231081CHRNB2c.603T>C (p.Gly201=)
c.609T>C (p.Gly203=)
c.93T>C (p.Gly31=)
n.855T>C
 COSMIC
1g.154571426T>GCA421231082CHRNB2c.603T>G (p.Gly201=)
c.609T>G (p.Gly203=)
c.93T>G (p.Gly31=)
n.855T>G
1g.154571427G>ACA342630452CHRNB2c.604G>A (p.Glu202Lys)
c.610G>A (p.Glu204Lys)
c.94G>A (p.Glu32Lys)
n.856G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.154571427G>CCA342630451CHRNB2c.604G>C (p.Glu202Gln)
c.610G>C (p.Glu204Gln)
c.94G>C (p.Glu32Gln)
n.856G>C
1g.154571427G=CA2480925251CHRNB2c.604G= (p.Glu202=)
c.610G= (p.Glu204=)
c.94G= (p.Glu32=)
n.856G=
1g.154571427G>TCA342630450CHRNB2c.604G>T (p.Glu202Ter)
c.610G>T (p.Glu204Ter)
c.94G>T (p.Glu32Ter)
n.856G>T
1g.154571428A>CCA342630453CHRNB2c.605A>C (p.Glu202Ala)
c.611A>C (p.Glu204Ala)
c.95A>C (p.Glu32Ala)
n.857A>C
1g.154571428A>GCA342630455CHRNB2c.605A>G (p.Glu202Gly)
c.611A>G (p.Glu204Gly)
c.95A>G (p.Glu32Gly)
n.857A>G
 gnomAD v4
1g.154571428A>TCA342630454CHRNB2c.605A>T (p.Glu202Val)
c.611A>T (p.Glu204Val)
c.95A>T (p.Glu32Val)
n.857A>T
1g.154571429G>ACA421231083CHRNB2c.606G>A (p.Glu202=)
c.612G>A (p.Glu204=)
c.96G>A (p.Glu32=)
n.858G>A
1g.154571429G>CCA342630456CHRNB2c.606G>C (p.Glu202Asp)
c.612G>C (p.Glu204Asp)
c.96G>C (p.Glu32Asp)
n.858G>C
 dbSNP gnomAD v3 gnomAD v4
1g.154571429G=CA2480925252CHRNB2c.606G= (p.Glu202=)
c.612G= (p.Glu204=)
c.96G= (p.Glu32=)
n.858G=
1g.154571429G>TCA342630457CHRNB2c.606G>T (p.Glu202Asp)
c.612G>T (p.Glu204Asp)
c.96G>T (p.Glu32Asp)
n.858G>T
1g.154571430T>ACA342630458CHRNB2c.607T>A (p.Trp203Arg)
c.613T>A (p.Trp205Arg)
c.97T>A (p.Trp33Arg)
n.859T>A
1g.154571430T>CCA342630460CHRNB2c.607T>C (p.Trp203Arg)
c.613T>C (p.Trp205Arg)
c.97T>C (p.Trp33Arg)
n.859T>C
1g.154571430T>GCA342630459CHRNB2c.607T>G (p.Trp203Gly)
c.613T>G (p.Trp205Gly)
c.97T>G (p.Trp33Gly)
n.859T>G

Number of alleles fetched