Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.154571331A= | CA1143453964 | CHRNB2 | c.508A= (p.Thr170=) c.514A= (p.Thr172=) c.-3A= (n.-3A=) n.760A= | |
1 | g.154571331A>C | CA342630191 | CHRNB2 | c.508A>C (p.Thr170Pro) c.514A>C (p.Thr172Pro) c.-3A>C (n.-3A>C) n.760A>C | |
1 | g.154571331A>G | CA30834140 | CHRNB2 | c.508A>G (p.Thr170Ala) c.514A>G (p.Thr172Ala) c.-3A>G (n.-3A>G) n.760A>G | dbSNP |
1 | g.154571331A>T | CA342630192 | CHRNB2 | c.508A>T (p.Thr170Ser) c.514A>T (p.Thr172Ser) c.-3A>T (n.-3A>T) n.760A>T | |
1 | g.154571332C>A | CA342630193 | CHRNB2 | c.509C>A (p.Thr170Asn) c.515C>A (p.Thr172Asn) c.-2C>A (n.-2C>A) n.761C>A | |
1 | g.154571332C= | CA2480925219 | CHRNB2 | c.509C= (p.Thr170=) c.515C= (p.Thr172=) c.-2C= (n.-2C=) n.761C= | |
1 | g.154571332C>G | CA342630194 | CHRNB2 | c.509C>G (p.Thr170Ser) c.515C>G (p.Thr172Ser) c.-2C>G (n.-2C>G) n.761C>G | dbSNP gnomAD v3 gnomAD v4 |
1 | g.154571332C>T | CA342630195 | CHRNB2 | c.509C>T (p.Thr170Ile) c.515C>T (p.Thr172Ile) c.-2C>T (n.-2C>T) n.761C>T | |
1 | g.154571333C>A | CA421230900 | CHRNB2 | c.510C>A (p.Thr170=) c.516C>A (p.Thr172=) c.-1C>A (n.-1C>A) n.762C>A | |
1 | g.154571333C>G | CA421230903 | CHRNB2 | c.510C>G (p.Thr170=) c.516C>G (p.Thr172=) c.-1C>G (n.-1C>G) n.762C>G | |
1 | g.154571333C>T | CA421230901 | CHRNB2 | c.510C>T (p.Thr170=) c.516C>T (p.Thr172=) c.-1C>T (n.-1C>T) n.762C>T | |
1 | g.154571334A= | CA2480925220 | CHRNB2 | c.511A= (p.Met171=) c.517A= (p.Met173=) c.1A= (p.Met1=) n.763A= | |
1 | g.154571334A>C | CA342630196 | CHRNB2 | c.511A>C (p.Met171Leu) c.517A>C (p.Met173Leu) c.1A>C (p.Met1Leu) n.763A>C | |
1 | g.154571334A>G | CA342630197 | CHRNB2 | c.511A>G (p.Met171Val) c.517A>G (p.Met173Val) c.1A>G (p.Met1Val) n.763A>G | dbSNP gnomAD v4 |
1 | g.154571334A>T | CA342630198 | CHRNB2 | c.511A>T (p.Met171Leu) c.517A>T (p.Met173Leu) c.1A>T (p.Met1Leu) n.763A>T | |
1 | g.154571335T>A | CA342630199 | CHRNB2 | c.512T>A (p.Met171Lys) c.518T>A (p.Met173Lys) c.2T>A (p.Met1Lys) n.764T>A | |
1 | g.154571335T>C | CA30834146 | CHRNB2 | c.512T>C (p.Met171Thr) c.518T>C (p.Met173Thr) c.2T>C (p.Met1Thr) n.764T>C | dbSNP |
1 | g.154571335T>G | CA342630200 | CHRNB2 | c.512T>G (p.Met171Arg) c.518T>G (p.Met173Arg) c.2T>G (p.Met1Arg) n.764T>G | |
1 | g.154571335T= | CA2480925221 | CHRNB2 | c.512T= (p.Met171=) c.518T= (p.Met173=) c.2T= (p.Met1=) n.764T= | |
1 | g.154571336G>A | CA342630203 | CHRNB2 | c.513G>A (p.Met171Ile) c.519G>A (p.Met173Ile) c.3G>A (p.Met1Ile) n.765G>A | |
1 | g.154571336G>C | CA342630202 | CHRNB2 | c.513G>C (p.Met171Ile) c.519G>C (p.Met173Ile) c.3G>C (p.Met1Ile) n.765G>C | |
1 | g.154571336G>T | CA342630201 | CHRNB2 | c.513G>T (p.Met171Ile) c.519G>T (p.Met173Ile) c.3G>T (p.Met1Ile) n.765G>T | |
1 | g.154571337A>C | CA342630204 | CHRNB2 | c.514A>C (p.Lys172Gln) c.520A>C (p.Lys174Gln) c.4A>C (p.Lys2Gln) n.766A>C | |
1 | g.154571337A>G | CA342630205 | CHRNB2 | c.514A>G (p.Lys172Glu) c.520A>G (p.Lys174Glu) c.4A>G (p.Lys2Glu) n.766A>G | |
1 | g.154571337A>T | CA342630206 | CHRNB2 | c.514A>T (p.Lys172Ter) c.520A>T (p.Lys174Ter) c.4A>T (p.Lys2Ter) n.766A>T | |
1 | g.154571338A= | CA2480925222 | CHRNB2 | c.515A= (p.Lys172=) c.521A= (p.Lys174=) c.5A= (p.Lys2=) n.767A= | |
1 | g.154571338A>C | CA342630207 | CHRNB2 | c.515A>C (p.Lys172Thr) c.521A>C (p.Lys174Thr) c.5A>C (p.Lys2Thr) n.767A>C | |
1 | g.154571338A>G | CA342630208 | CHRNB2 | c.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 |
1 | g.154571338A>T | CA342630209 | CHRNB2 | c.515A>T (p.Lys172Met) c.521A>T (p.Lys174Met) c.5A>T (p.Lys2Met) n.767A>T | |
1 | g.154571339G>A | CA421230911 | CHRNB2 | c.516G>A (p.Lys172=) c.522G>A (p.Lys174=) c.6G>A (p.Lys2=) n.768G>A | dbSNP gnomAD v2 gnomAD v4 |
1 | g.154571339G>C | CA342630210 | CHRNB2 | c.516G>C (p.Lys172Asn) c.522G>C (p.Lys174Asn) c.6G>C (p.Lys2Asn) n.768G>C | dbSNP |
1 | g.154571339G= | CA2480925223 | CHRNB2 | c.516G= (p.Lys172=) c.522G= (p.Lys174=) c.6G= (p.Lys2=) n.768G= | |
1 | g.154571339G>T | CA342630211 | CHRNB2 | c.516G>T (p.Lys172Asn) c.522G>T (p.Lys174Asn) c.6G>T (p.Lys2Asn) n.768G>T | |
1 | g.154571340T>A | CA342630212 | CHRNB2 | c.517T>A (p.Phe173Ile) c.523T>A (p.Phe175Ile) c.7T>A (p.Phe3Ile) n.769T>A | |
1 | g.154571340T>C | CA342630213 | CHRNB2 | c.517T>C (p.Phe173Leu) c.523T>C (p.Phe175Leu) c.7T>C (p.Phe3Leu) n.769T>C | dbSNP gnomAD v3 gnomAD v4 |
1 | g.154571340T>G | CA342630214 | CHRNB2 | c.517T>G (p.Phe173Val) c.523T>G (p.Phe175Val) c.7T>G (p.Phe3Val) n.769T>G | |
1 | g.154571340T= | CA2480925224 | CHRNB2 | c.517T= (p.Phe173=) c.523T= (p.Phe175=) c.7T= (p.Phe3=) n.769T= | |
1 | g.154571340_154571343dup | CA2648169730 | CHRNB2 | c.517_520dup (p.Arg174LeufsTer18) c.523_526dup (p.Arg176LeufsTer18) c.7_10dup (p.Arg4LeufsTer18) n.769_772dup | gnomAD v4 |
1 | g.154571341T>A | CA342630215 | CHRNB2 | c.518T>A (p.Phe173Tyr) c.524T>A (p.Phe175Tyr) c.8T>A (p.Phe3Tyr) n.770T>A | |
1 | g.154571341T>C | CA342630216 | CHRNB2 | c.518T>C (p.Phe173Ser) c.524T>C (p.Phe175Ser) c.8T>C (p.Phe3Ser) n.770T>C | |
1 | g.154571341T>G | CA342630217 | CHRNB2 | c.518T>G (p.Phe173Cys) c.524T>G (p.Phe175Cys) c.8T>G (p.Phe3Cys) n.770T>G | |
1 | g.154571342C>A | CA342630219 | CHRNB2 | c.519C>A (p.Phe173Leu) c.525C>A (p.Phe175Leu) c.9C>A (p.Phe3Leu) n.771C>A | |
1 | g.154571342C>G | CA342630218 | CHRNB2 | c.519C>G (p.Phe173Leu) c.525C>G (p.Phe175Leu) c.9C>G (p.Phe3Leu) n.771C>G | gnomAD v4 |
1 | g.154571342C>T | CA421230915 | CHRNB2 | c.519C>T (p.Phe173=) c.525C>T (p.Phe175=) c.9C>T (p.Phe3=) n.771C>T | |
1 | g.154571343dup | CA2697554563 | CHRNB2 | c.520dup (p.Arg174ProfsTer17) c.526dup (p.Arg176ProfsTer17) c.10dup (p.Arg4ProfsTer17) n.772dup | ClinVar |
1 | g.154571343C>A | CA342630220 | CHRNB2 | c.520C>A (p.Arg174Ser) c.526C>A (p.Arg176Ser) c.10C>A (p.Arg4Ser) n.772C>A | |
1 | g.154571343C>G | CA342630221 | CHRNB2 | c.520C>G (p.Arg174Gly) c.526C>G (p.Arg176Gly) c.10C>G (p.Arg4Gly) n.772C>G | |
1 | g.154571343C>T | CA342630222 | CHRNB2 | c.520C>T (p.Arg174Cys) c.526C>T (p.Arg176Cys) c.10C>T (p.Arg4Cys) n.772C>T | gnomAD v4 COSMIC |
1 | g.154571343_154571350delinsTGCTAC | CA2837994687 | CHRNB2 | c.520_527delinsTGCTAC (p.Arg174CysfsTer16) c.526_533delinsTGCTAC (p.Arg176CysfsTer16) c.10_17delinsTGCTAC (p.Arg4CysfsTer16) n.772_779delinsTGCTAC | |
1 | g.154571344G>A | CA30834149 | CHRNB2 | c.521G>A (p.Arg174His) c.527G>A (p.Arg176His) c.11G>A (p.Arg4His) n.773G>A | dbSNP |
1 | g.154571344G>C | CA342630223 | CHRNB2 | c.521G>C (p.Arg174Pro) c.527G>C (p.Arg176Pro) c.11G>C (p.Arg4Pro) n.773G>C | gnomAD v4 |
1 | g.154571344G= | CA2480925225 | CHRNB2 | c.521G= (p.Arg174=) c.527G= (p.Arg176=) c.11G= (p.Arg4=) n.773G= | |
1 | g.154571344G>T | CA342630224 | CHRNB2 | c.521G>T (p.Arg174Leu) c.527G>T (p.Arg176Leu) c.11G>T (p.Arg4Leu) n.773G>T | |
1 | g.154571345T>A | CA421230918 | CHRNB2 | c.522T>A (p.Arg174=) c.528T>A (p.Arg176=) c.12T>A (p.Arg4=) n.774T>A | |
1 | g.154571345T>C | CA421230919 | CHRNB2 | c.522T>C (p.Arg174=) c.528T>C (p.Arg176=) c.12T>C (p.Arg4=) n.774T>C | |
1 | g.154571345T>G | CA421230920 | CHRNB2 | c.522T>G (p.Arg174=) c.528T>G (p.Arg176=) c.12T>G (p.Arg4=) n.774T>G | |
1 | g.154571346T>A | CA342630225 | CHRNB2 | c.523T>A (p.Ser175Thr) c.529T>A (p.Ser177Thr) c.13T>A (p.Ser5Thr) n.775T>A | |
1 | g.154571346T>C | CA342630226 | CHRNB2 | c.523T>C (p.Ser175Pro) c.529T>C (p.Ser177Pro) c.13T>C (p.Ser5Pro) n.775T>C | |
1 | g.154571346T>G | CA342630227 | CHRNB2 | c.523T>G (p.Ser175Ala) c.529T>G (p.Ser177Ala) c.13T>G (p.Ser5Ala) n.775T>G | |
1 | g.154571347C>A | CA342630228 | CHRNB2 | c.524C>A (p.Ser175Ter) c.530C>A (p.Ser177Ter) c.14C>A (p.Ser5Ter) n.776C>A | |
1 | g.154571347C= | CA1140959566 | CHRNB2 | c.524C= (p.Ser175=) c.530C= (p.Ser177=) c.14C= (p.Ser5=) n.776C= | |
1 | g.154571347C>G | CA30834161 | CHRNB2 | c.524C>G (p.Ser175Trp) c.530C>G (p.Ser177Trp) c.14C>G (p.Ser5Trp) n.776C>G | ClinVar dbSNP |
1 | g.154571347C>T | CA1130739 | CHRNB2 | c.524C>T (p.Ser175Leu) c.530C>T (p.Ser177Leu) c.14C>T (p.Ser5Leu) n.776C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.154571348G>A | CA1130740 | CHRNB2 | c.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 |
1 | g.154571348G>C | CA421230925 | CHRNB2 | c.525G>C (p.Ser175=) c.531G>C (p.Ser177=) c.15G>C (p.Ser5=) n.777G>C | |
1 | g.154571348G= | CA2480925226 | CHRNB2 | c.525G= (p.Ser175=) c.531G= (p.Ser177=) c.15G= (p.Ser5=) n.777G= | |
1 | g.154571348G>T | CA421230927 | CHRNB2 | c.525G>T (p.Ser175=) c.531G>T (p.Ser177=) c.15G>T (p.Ser5=) n.777G>T | |
1 | g.154571349T>A | CA342630231 | CHRNB2 | c.526T>A (p.Trp176Arg) c.532T>A (p.Trp178Arg) c.16T>A (p.Trp6Arg) n.778T>A | |
1 | g.154571349T>C | CA342630229 | CHRNB2 | c.526T>C (p.Trp176Arg) c.532T>C (p.Trp178Arg) c.16T>C (p.Trp6Arg) n.778T>C | |
1 | g.154571349T>G | CA342630230 | CHRNB2 | c.526T>G (p.Trp176Gly) c.532T>G (p.Trp178Gly) c.16T>G (p.Trp6Gly) n.778T>G | |
1 | g.154571350G>A | CA342630232 | CHRNB2 | c.527G>A (p.Trp176Ter) c.533G>A (p.Trp178Ter) c.17G>A (p.Trp6Ter) n.779G>A | |
1 | g.154571350G>C | CA342630234 | CHRNB2 | c.527G>C (p.Trp176Ser) c.533G>C (p.Trp178Ser) c.17G>C (p.Trp6Ser) n.779G>C | |
1 | g.154571350G>T | CA342630233 | CHRNB2 | c.527G>T (p.Trp176Leu) c.533G>T (p.Trp178Leu) c.17G>T (p.Trp6Leu) n.779G>T | |
1 | g.154571351G>A | CA342630235 | CHRNB2 | c.528G>A (p.Trp176Ter) c.534G>A (p.Trp178Ter) c.18G>A (p.Trp6Ter) n.780G>A | |
1 | g.154571351G>C | CA342630236 | CHRNB2 | c.528G>C (p.Trp176Cys) c.534G>C (p.Trp178Cys) c.18G>C (p.Trp6Cys) n.780G>C | |
1 | g.154571351G>T | CA342630237 | CHRNB2 | c.528G>T (p.Trp176Cys) c.534G>T (p.Trp178Cys) c.18G>T (p.Trp6Cys) n.780G>T | |
1 | g.154571352A>C | CA342630238 | CHRNB2 | c.529A>C (p.Thr177Pro) c.535A>C (p.Thr179Pro) c.19A>C (p.Thr7Pro) n.781A>C | |
1 | g.154571352A>G | CA342630240 | CHRNB2 | c.529A>G (p.Thr177Ala) c.535A>G (p.Thr179Ala) c.19A>G (p.Thr7Ala) n.781A>G | |
1 | g.154571352A>T | CA342630241 | CHRNB2 | c.529A>T (p.Thr177Ser) c.535A>T (p.Thr179Ser) c.19A>T (p.Thr7Ser) n.781A>T | |
1 | g.154571353C>A | CA342630242 | CHRNB2 | c.530C>A (p.Thr177Asn) c.536C>A (p.Thr179Asn) c.20C>A (p.Thr7Asn) n.782C>A | |
1 | g.154571353C>G | CA342630243 | CHRNB2 | c.530C>G (p.Thr177Ser) c.536C>G (p.Thr179Ser) c.20C>G (p.Thr7Ser) n.782C>G | |
1 | g.154571353C>T | CA342630244 | CHRNB2 | c.530C>T (p.Thr177Ile) c.536C>T (p.Thr179Ile) c.20C>T (p.Thr7Ile) n.782C>T | |
1 | g.154571354C>A | CA421230929 | CHRNB2 | c.531C>A (p.Thr177=) c.537C>A (p.Thr179=) c.21C>A (p.Thr7=) n.783C>A | ClinVar dbSNP |
1 | g.154571354C>G | CA421230930 | CHRNB2 | c.531C>G (p.Thr177=) c.537C>G (p.Thr179=) c.21C>G (p.Thr7=) n.783C>G | |
1 | g.154571354C>T | CA421230931 | CHRNB2 | c.531C>T (p.Thr177=) c.537C>T (p.Thr179=) c.21C>T (p.Thr7=) n.783C>T | |
1 | g.154571355T>A | CA342630245 | CHRNB2 | c.532T>A (p.Tyr178Asn) c.538T>A (p.Tyr180Asn) c.22T>A (p.Tyr8Asn) n.784T>A | |
1 | g.154571355T>C | CA342630246 | CHRNB2 | c.532T>C (p.Tyr178His) c.538T>C (p.Tyr180His) c.22T>C (p.Tyr8His) n.784T>C | gnomAD v4 |
1 | g.154571355T>G | CA342630247 | CHRNB2 | c.532T>G (p.Tyr178Asp) c.538T>G (p.Tyr180Asp) c.22T>G (p.Tyr8Asp) n.784T>G | |
1 | g.154571356A>C | CA342630248 | CHRNB2 | c.533A>C (p.Tyr178Ser) c.539A>C (p.Tyr180Ser) c.23A>C (p.Tyr8Ser) n.785A>C | |
1 | g.154571356A>G | CA342630250 | CHRNB2 | c.533A>G (p.Tyr178Cys) c.539A>G (p.Tyr180Cys) c.23A>G (p.Tyr8Cys) n.785A>G | gnomAD v4 |
1 | g.154571356A>T | CA342630249 | CHRNB2 | c.533A>T (p.Tyr178Phe) c.539A>T (p.Tyr180Phe) c.23A>T (p.Tyr8Phe) n.785A>T | |
1 | g.154571357C>A | CA342630252 | CHRNB2 | c.534C>A (p.Tyr178Ter) c.540C>A (p.Tyr180Ter) c.24C>A (p.Tyr8Ter) n.786C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.154571357C= | CA2480925227 | CHRNB2 | c.534C= (p.Tyr178=) c.540C= (p.Tyr180=) c.24C= (p.Tyr8=) n.786C= | |
1 | g.154571357C>G | CA342630253 | CHRNB2 | c.534C>G (p.Tyr178Ter) c.540C>G (p.Tyr180Ter) c.24C>G (p.Tyr8Ter) n.786C>G | |
1 | g.154571357C>T | CA421230932 | CHRNB2 | c.534C>T (p.Tyr178=) c.540C>T (p.Tyr180=) c.24C>T (p.Tyr8=) n.786C>T | ClinVar dbSNP gnomAD v4 |
1 | g.154571358G>A | CA1130741 | CHRNB2 | c.535G>A (p.Asp179Asn) c.541G>A (p.Asp181Asn) c.25G>A (p.Asp9Asn) n.787G>A | ClinVar dbSNP ExAC gnomAD v2 |
1 | g.154571358G>C | CA342630254 | CHRNB2 | c.535G>C (p.Asp179His) c.541G>C (p.Asp181His) c.25G>C (p.Asp9His) n.787G>C | ClinVar gnomAD v4 |
1 | g.154571358G= | CA2480925228 | CHRNB2 | c.535G= (p.Asp179=) c.541G= (p.Asp181=) c.25G= (p.Asp9=) n.787G= | |
1 | g.154571358G>T | CA342630255 | CHRNB2 | c.535G>T (p.Asp179Tyr) c.541G>T (p.Asp181Tyr) c.25G>T (p.Asp9Tyr) n.787G>T | gnomAD v4 |
1 | g.154571359A>C | CA342630256 | CHRNB2 | c.536A>C (p.Asp179Ala) c.542A>C (p.Asp181Ala) c.26A>C (p.Asp9Ala) n.788A>C | |
1 | g.154571359A>G | CA342630257 | CHRNB2 | c.536A>G (p.Asp179Gly) c.542A>G (p.Asp181Gly) c.26A>G (p.Asp9Gly) n.788A>G | ClinVar gnomAD v4 |
1 | g.154571359A>T | CA342630258 | CHRNB2 | c.536A>T (p.Asp179Val) c.542A>T (p.Asp181Val) c.26A>T (p.Asp9Val) n.788A>T | |
1 | g.154571360C>A | CA342630259 | CHRNB2 | c.537C>A (p.Asp179Glu) c.543C>A (p.Asp181Glu) c.27C>A (p.Asp9Glu) n.789C>A | gnomAD v4 |
1 | g.154571360C>G | CA342630260 | CHRNB2 | c.537C>G (p.Asp179Glu) c.543C>G (p.Asp181Glu) c.27C>G (p.Asp9Glu) n.789C>G | |
1 | g.154571360C>T | CA421230933 | CHRNB2 | c.537C>T (p.Asp179=) c.543C>T (p.Asp181=) c.27C>T (p.Asp9=) n.789C>T | |
1 | g.154571361C>A | CA342630263 | CHRNB2 | c.538C>A (p.Arg180Ser) c.544C>A (p.Arg182Ser) c.28C>A (p.Arg10Ser) n.790C>A | |
1 | g.154571361C= | CA2480925229 | CHRNB2 | c.538C= (p.Arg180=) c.544C= (p.Arg182=) c.28C= (p.Arg10=) n.790C= | |
1 | g.154571361C>G | CA342630262 | CHRNB2 | c.538C>G (p.Arg180Gly) c.544C>G (p.Arg182Gly) c.28C>G (p.Arg10Gly) n.790C>G | |
1 | g.154571361C>T | CA342630261 | CHRNB2 | c.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 |
1 | g.154571362G>A | CA1130743 | CHRNB2 | c.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 |
1 | g.154571362G>C | CA342630264 | CHRNB2 | c.539G>C (p.Arg180Pro) c.545G>C (p.Arg182Pro) c.29G>C (p.Arg10Pro) n.791G>C | ClinVar dbSNP |
1 | g.154571362G= | CA2480925231 | CHRNB2 | c.539G= (p.Arg180=) c.545G= (p.Arg182=) c.29G= (p.Arg10=) n.791G= | |
1 | g.154571362G>T | CA342630265 | CHRNB2 | c.539G>T (p.Arg180Leu) c.545G>T (p.Arg182Leu) c.29G>T (p.Arg10Leu) n.791G>T | ClinVar gnomAD v4 |
1 | g.154571362_154571364delinsGCA | CA2480925230 | CHRNB2 | c.539_541delinsGCA (p.Arg180=) c.545_547delinsGCA (p.Arg182=) c.29_31delinsGCA (p.Arg10=) n.791_793delinsGCA | |
1 | g.154571363C>A | CA421230936 | CHRNB2 | c.540C>A (p.Arg180=) c.546C>A (p.Arg182=) c.30C>A (p.Arg10=) n.792C>A | |
1 | g.154571363C>G | CA421230935 | CHRNB2 | c.540C>G (p.Arg180=) c.546C>G (p.Arg182=) c.30C>G (p.Arg10=) n.792C>G | |
1 | g.154571363C>T | CA421230934 | CHRNB2 | c.540C>T (p.Arg180=) c.546C>T (p.Arg182=) c.30C>T (p.Arg10=) n.792C>T | |
1 | g.154571365_154571366del | CA1130742 | CHRNB2 | c.542_543del (p.Thr181ArgfsTer9) c.548_549del (p.Thr183ArgfsTer9) c.32_33del (p.Thr11ArgfsTer9) n.794_795del | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.154571364A>C | CA342630266 | CHRNB2 | c.541A>C (p.Thr181Pro) c.547A>C (p.Thr183Pro) c.31A>C (p.Thr11Pro) n.793A>C | |
1 | g.154571364A>G | CA342630267 | CHRNB2 | c.541A>G (p.Thr181Ala) c.547A>G (p.Thr183Ala) c.31A>G (p.Thr11Ala) n.793A>G | |
1 | g.154571364A>T | CA342630268 | CHRNB2 | c.541A>T (p.Thr181Ser) c.547A>T (p.Thr183Ser) c.31A>T (p.Thr11Ser) n.793A>T | |
1 | g.154571365C>A | CA342630269 | CHRNB2 | c.542C>A (p.Thr181Lys) c.548C>A (p.Thr183Lys) c.32C>A (p.Thr11Lys) n.794C>A | |
1 | g.154571365C>G | CA342630270 | CHRNB2 | c.542C>G (p.Thr181Arg) c.548C>G (p.Thr183Arg) c.32C>G (p.Thr11Arg) n.794C>G | gnomAD v4 |
1 | g.154571365C>T | CA342630271 | CHRNB2 | c.542C>T (p.Thr181Ile) c.548C>T (p.Thr183Ile) c.32C>T (p.Thr11Ile) n.794C>T | |
1 | g.154571366A= | CA2480925233 | CHRNB2 | c.543A= (p.Thr181=) c.549A= (p.Thr183=) c.33A= (p.Thr11=) n.795A= | |
1 | g.154571366A>C | CA421230937 | CHRNB2 | c.543A>C (p.Thr181=) c.549A>C (p.Thr183=) c.33A>C (p.Thr11=) n.795A>C | |
1 | g.154571366A>G | CA421230938 | CHRNB2 | c.543A>G (p.Thr181=) c.549A>G (p.Thr183=) c.33A>G (p.Thr11=) n.795A>G | dbSNP gnomAD v4 |
1 | g.154571366A>T | CA421230939 | CHRNB2 | c.543A>T (p.Thr181=) c.549A>T (p.Thr183=) c.33A>T (p.Thr11=) n.795A>T | |
1 | g.154571366_154571367delinsAG | CA2480925232 | CHRNB2 | c.543_544delinsAG (p.Thr181=) c.549_550delinsAG (p.Thr183=) c.33_34delinsAG (p.Thr11=) n.795_796delinsAG | |
1 | g.154571367del | CA2480925234 | CHRNB2 | c.544del (p.Glu182ArgfsTer6) c.550del (p.Glu184ArgfsTer6) c.34del (p.Glu12ArgfsTer6) n.796del | ClinVar dbSNP |
1 | g.154571367G>A | CA342630272 | CHRNB2 | c.544G>A (p.Glu182Lys) c.550G>A (p.Glu184Lys) c.34G>A (p.Glu12Lys) n.796G>A | |
1 | g.154571367G>C | CA342630273 | CHRNB2 | c.544G>C (p.Glu182Gln) c.550G>C (p.Glu184Gln) c.34G>C (p.Glu12Gln) n.796G>C | |
1 | g.154571367G>T | CA342630274 | CHRNB2 | c.544G>T (p.Glu182Ter) c.550G>T (p.Glu184Ter) c.34G>T (p.Glu12Ter) n.796G>T | |
1 | g.154571368A>C | CA342630277 | CHRNB2 | c.545A>C (p.Glu182Ala) c.551A>C (p.Glu184Ala) c.35A>C (p.Glu12Ala) n.797A>C | |
1 | g.154571368A>G | CA342630276 | CHRNB2 | c.545A>G (p.Glu182Gly) c.551A>G (p.Glu184Gly) c.35A>G (p.Glu12Gly) n.797A>G | gnomAD v4 |
1 | g.154571368A>T | CA342630275 | CHRNB2 | c.545A>T (p.Glu182Val) c.551A>T (p.Glu184Val) c.35A>T (p.Glu12Val) n.797A>T | |
1 | g.154571369G>A | CA421230940 | CHRNB2 | c.546G>A (p.Glu182=) c.552G>A (p.Glu184=) c.36G>A (p.Glu12=) n.798G>A | |
1 | g.154571369G>C | CA342630278 | CHRNB2 | c.546G>C (p.Glu182Asp) c.552G>C (p.Glu184Asp) c.36G>C (p.Glu12Asp) n.798G>C | |
1 | g.154571369G= | CA1143368780 | CHRNB2 | c.546G= (p.Glu182=) c.552G= (p.Glu184=) c.36G= (p.Glu12=) n.798G= | |
1 | g.154571369G>T | CA30834187 | CHRNB2 | c.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 |
1 | g.154571370A= | CA2480925235 | CHRNB2 | c.547A= (p.Ile183=) c.553A= (p.Ile185=) c.37A= (p.Ile13=) n.799A= | |
1 | g.154571370A>C | CA342630279 | CHRNB2 | c.547A>C (p.Ile183Leu) c.553A>C (p.Ile185Leu) c.37A>C (p.Ile13Leu) n.799A>C | |
1 | g.154571370A>G | CA342630280 | CHRNB2 | c.547A>G (p.Ile183Val) c.553A>G (p.Ile185Val) c.37A>G (p.Ile13Val) n.799A>G | |
1 | g.154571370A>T | CA245973 | CHRNB2 | c.547A>T (p.Ile183Phe) c.553A>T (p.Ile185Phe) c.37A>T (p.Ile13Phe) n.799A>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.154571371T>A | CA342630281 | CHRNB2 | c.548T>A (p.Ile183Asn) c.554T>A (p.Ile185Asn) c.38T>A (p.Ile13Asn) n.800T>A | |
1 | g.154571371T>C | CA342630282 | CHRNB2 | c.548T>C (p.Ile183Thr) c.554T>C (p.Ile185Thr) c.38T>C (p.Ile13Thr) n.800T>C | |
1 | g.154571371T>G | CA342630283 | CHRNB2 | c.548T>G (p.Ile183Ser) c.554T>G (p.Ile185Ser) c.38T>G (p.Ile13Ser) n.800T>G | |
1 | g.154571372C>A | CA421230941 | CHRNB2 | c.549C>A (p.Ile183=) c.555C>A (p.Ile185=) c.39C>A (p.Ile13=) n.801C>A | ClinVar dbSNP gnomAD v4 |
1 | g.154571372C= | CA2480925236 | CHRNB2 | c.549C= (p.Ile183=) c.555C= (p.Ile185=) c.39C= (p.Ile13=) n.801C= | |
1 | g.154571372C>G | CA313651 | CHRNB2 | c.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 |
1 | g.154571372C>T | CA1130744 | CHRNB2 | c.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 |
1 | g.154571373G>A | CA342630287 | CHRNB2 | c.550G>A (p.Asp184Asn) c.556G>A (p.Asp186Asn) c.40G>A (p.Asp14Asn) n.802G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154571373G>C | CA342630289 | CHRNB2 | c.550G>C (p.Asp184His) c.556G>C (p.Asp186His) c.40G>C (p.Asp14His) n.802G>C | |
1 | g.154571373G= | CA2480925237 | CHRNB2 | c.550G= (p.Asp184=) c.556G= (p.Asp186=) c.40G= (p.Asp14=) n.802G= | |
1 | g.154571373G>T | CA342630290 | CHRNB2 | c.550G>T (p.Asp184Tyr) c.556G>T (p.Asp186Tyr) c.40G>T (p.Asp14Tyr) n.802G>T | |
1 | g.154571374A>C | CA342630293 | CHRNB2 | c.551A>C (p.Asp184Ala) c.557A>C (p.Asp186Ala) c.41A>C (p.Asp14Ala) n.803A>C | |
1 | g.154571374A>G | CA342630295 | CHRNB2 | c.551A>G (p.Asp184Gly) c.557A>G (p.Asp186Gly) c.41A>G (p.Asp14Gly) n.803A>G | |
1 | g.154571374A>T | CA342630291 | CHRNB2 | c.551A>T (p.Asp184Val) c.557A>T (p.Asp186Val) c.41A>T (p.Asp14Val) n.803A>T | |
1 | g.154571375C>A | CA342630297 | CHRNB2 | c.552C>A (p.Asp184Glu) c.558C>A (p.Asp186Glu) c.42C>A (p.Asp14Glu) n.804C>A | |
1 | g.154571375C= | CA2480925238 | CHRNB2 | c.552C= (p.Asp184=) c.558C= (p.Asp186=) c.42C= (p.Asp14=) n.804C= | |
1 | g.154571375C>G | CA30834201 | CHRNB2 | c.552C>G (p.Asp184Glu) c.558C>G (p.Asp186Glu) c.42C>G (p.Asp14Glu) n.804C>G | dbSNP gnomAD v3 gnomAD v4 |
1 | g.154571375C>T | CA421230942 | CHRNB2 | c.552C>T (p.Asp184=) c.558C>T (p.Asp186=) c.42C>T (p.Asp14=) n.804C>T | gnomAD v4 |
1 | g.154571376T>A | CA342630302 | CHRNB2 | c.553T>A (p.Leu185Met) c.559T>A (p.Leu187Met) c.43T>A (p.Leu15Met) n.805T>A | |
1 | g.154571376T>C | CA421230943 | CHRNB2 | c.553T>C (p.Leu185=) c.559T>C (p.Leu187=) c.43T>C (p.Leu15=) n.805T>C | dbSNP gnomAD v2 |
1 | g.154571376T>G | CA342630304 | CHRNB2 | c.553T>G (p.Leu185Val) c.559T>G (p.Leu187Val) c.43T>G (p.Leu15Val) n.805T>G | |
1 | g.154571376T= | CA2480925239 | CHRNB2 | c.553T= (p.Leu185=) c.559T= (p.Leu187=) c.43T= (p.Leu15=) n.805T= | |
1 | g.154571377T>A | CA342630306 | CHRNB2 | c.554T>A (p.Leu185Ter) c.560T>A (p.Leu187Ter) c.44T>A (p.Leu15Ter) n.806T>A | |
1 | g.154571377T>C | CA342630307 | CHRNB2 | c.554T>C (p.Leu185Ser) c.560T>C (p.Leu187Ser) c.44T>C (p.Leu15Ser) n.806T>C | ClinVar dbSNP |
1 | g.154571377T>G | CA342630308 | CHRNB2 | c.554T>G (p.Leu185Trp) c.560T>G (p.Leu187Trp) c.44T>G (p.Leu15Trp) n.806T>G | |
1 | g.154571377T= | CA2480925240 | CHRNB2 | c.554T= (p.Leu185=) c.560T= (p.Leu187=) c.44T= (p.Leu15=) n.806T= | |
1 | g.154571378G>A | CA421230944 | CHRNB2 | c.555G>A (p.Leu185=) c.561G>A (p.Leu187=) c.45G>A (p.Leu15=) n.807G>A | |
1 | g.154571378G>C | CA342630310 | CHRNB2 | c.555G>C (p.Leu185Phe) c.561G>C (p.Leu187Phe) c.45G>C (p.Leu15Phe) n.807G>C | |
1 | g.154571378G>T | CA342630313 | CHRNB2 | c.555G>T (p.Leu185Phe) c.561G>T (p.Leu187Phe) c.45G>T (p.Leu15Phe) n.807G>T | |
1 | g.154571379G>A | CA342630315 | CHRNB2 | c.556G>A (p.Val186Met) c.562G>A (p.Val188Met) c.46G>A (p.Val16Met) n.808G>A | gnomAD v4 |
1 | g.154571379G>C | CA342630317 | CHRNB2 | c.556G>C (p.Val186Leu) c.562G>C (p.Val188Leu) c.46G>C (p.Val16Leu) n.808G>C | |
1 | g.154571379G>T | CA342630319 | CHRNB2 | c.556G>T (p.Val186Leu) c.562G>T (p.Val188Leu) c.46G>T (p.Val16Leu) n.808G>T | gnomAD v4 |
1 | g.154571380T>A | CA342630321 | CHRNB2 | c.557T>A (p.Val186Glu) c.563T>A (p.Val188Glu) c.47T>A (p.Val16Glu) n.809T>A | |
1 | g.154571380T>C | CA342630322 | CHRNB2 | c.557T>C (p.Val186Ala) c.563T>C (p.Val188Ala) c.47T>C (p.Val16Ala) n.809T>C | |
1 | g.154571380T>G | CA342630324 | CHRNB2 | c.557T>G (p.Val186Gly) c.563T>G (p.Val188Gly) c.47T>G (p.Val16Gly) n.809T>G | |
1 | g.154571381G>A | CA421230945 | CHRNB2 | c.558G>A (p.Val186=) c.564G>A (p.Val188=) c.48G>A (p.Val16=) n.810G>A | |
1 | g.154571381G>C | CA421230946 | CHRNB2 | c.558G>C (p.Val186=) c.564G>C (p.Val188=) c.48G>C (p.Val16=) n.810G>C | |
1 | g.154571381G>T | CA421230947 | CHRNB2 | c.558G>T (p.Val186=) c.564G>T (p.Val188=) c.48G>T (p.Val16=) n.810G>T | |
1 | g.154571382C>A | CA342630328 | CHRNB2 | c.559C>A (p.Leu187Met) c.565C>A (p.Leu189Met) c.49C>A (p.Leu17Met) n.811C>A | |
1 | g.154571382C= | CA2480925241 | CHRNB2 | c.559C= (p.Leu187=) c.565C= (p.Leu189=) c.49C= (p.Leu17=) n.811C= | |
1 | g.154571382C>G | CA342630326 | CHRNB2 | c.559C>G (p.Leu187Val) c.565C>G (p.Leu189Val) c.49C>G (p.Leu17Val) n.811C>G | |
1 | g.154571382C>T | CA421230948 | CHRNB2 | c.559C>T (p.Leu187=) c.565C>T (p.Leu189=) c.49C>T (p.Leu17=) n.811C>T | dbSNP gnomAD v2 gnomAD v4 |
1 | g.154571382_154571386delinsCTGAA | CA2480925242 | CHRNB2 | c.559_563delinsCTGAA (p.Leu187=) c.565_569delinsCTGAA (p.Leu189=) c.49_53delinsCTGAA (p.Leu17=) n.811_815delinsCTGAA | |
1 | g.154571383T>A | CA342630331 | CHRNB2 | c.560T>A (p.Leu187Gln) c.566T>A (p.Leu189Gln) c.50T>A (p.Leu17Gln) n.812T>A | |
1 | g.154571383T>C | CA342630333 | CHRNB2 | c.560T>C (p.Leu187Pro) c.566T>C (p.Leu189Pro) c.50T>C (p.Leu17Pro) n.812T>C | |
1 | g.154571383T>G | CA342630334 | CHRNB2 | c.560T>G (p.Leu187Arg) c.566T>G (p.Leu189Arg) c.50T>G (p.Leu17Arg) n.812T>G | |
1 | g.154571383_154571386del | CA2480925243 | CHRNB2 | c.560_563del (p.Leu187ArgfsTer?) c.566_569del (p.Leu189ArgfsTer?) c.50_53del (p.Leu17ArgfsTer?) n.812_815del | dbSNP |
1 | g.154571384G>A | CA421230951 | CHRNB2 | c.561G>A (p.Leu187=) c.567G>A (p.Leu189=) c.51G>A (p.Leu17=) n.813G>A | gnomAD v4 |
1 | g.154571384G>C | CA421230949 | CHRNB2 | c.561G>C (p.Leu187=) c.567G>C (p.Leu189=) c.51G>C (p.Leu17=) n.813G>C | |
1 | g.154571384G= | CA2480925244 | CHRNB2 | c.561G= (p.Leu187=) c.567G= (p.Leu189=) c.51G= (p.Leu17=) n.813G= | |
1 | g.154571384G>T | CA421230950 | CHRNB2 | c.561G>T (p.Leu187=) c.567G>T (p.Leu189=) c.51G>T (p.Leu17=) n.813G>T | |
1 | g.154571385A>C | CA342630338 | CHRNB2 | c.562A>C (p.Lys188Gln) c.568A>C (p.Lys190Gln) c.52A>C (p.Lys18Gln) n.814A>C | |
1 | g.154571385A>G | CA342630340 | CHRNB2 | c.562A>G (p.Lys188Glu) c.568A>G (p.Lys190Glu) c.52A>G (p.Lys18Glu) n.814A>G | |
1 | g.154571385A>T | CA342630342 | CHRNB2 | c.562A>T (p.Lys188Ter) c.568A>T (p.Lys190Ter) c.52A>T (p.Lys18Ter) n.814A>T | |
1 | g.154571386dup | CA1007941553 | CHRNB2 | c.563dup (p.Ser189GlufsTer2) c.569dup (p.Ser191GlufsTer2) c.53dup (p.Ser19GlufsTer2) n.815dup | dbSNP gnomAD v3 gnomAD v4 |
1 | g.154571386A>C | CA342630345 | CHRNB2 | c.563A>C (p.Lys188Thr) c.569A>C (p.Lys190Thr) c.53A>C (p.Lys18Thr) n.815A>C | |
1 | g.154571386A>G | CA342630347 | CHRNB2 | c.563A>G (p.Lys188Arg) c.569A>G (p.Lys190Arg) c.53A>G (p.Lys18Arg) n.815A>G | |
1 | g.154571386A>T | CA342630349 | CHRNB2 | c.563A>T (p.Lys188Met) c.569A>T (p.Lys190Met) c.53A>T (p.Lys18Met) n.815A>T | |
1 | g.154571387G>A | CA421230952 | CHRNB2 | c.564G>A (p.Lys188=) c.570G>A (p.Lys190=) c.54G>A (p.Lys18=) n.816G>A | gnomAD v4 |
1 | g.154571387G>C | CA342630352 | CHRNB2 | c.564G>C (p.Lys188Asn) c.570G>C (p.Lys190Asn) c.54G>C (p.Lys18Asn) n.816G>C | |
1 | g.154571387G>T | CA342630354 | CHRNB2 | c.564G>T (p.Lys188Asn) c.570G>T (p.Lys190Asn) c.54G>T (p.Lys18Asn) n.816G>T | COSMIC |
1 | g.154571388A>C | CA342630360 | CHRNB2 | c.565A>C (p.Ser189Arg) c.571A>C (p.Ser191Arg) c.55A>C (p.Ser19Arg) n.817A>C | |
1 | g.154571388A>G | CA342630362 | CHRNB2 | c.565A>G (p.Ser189Gly) c.571A>G (p.Ser191Gly) c.55A>G (p.Ser19Gly) n.817A>G | gnomAD v4 |
1 | g.154571388A>T | CA342630357 | CHRNB2 | c.565A>T (p.Ser189Cys) c.571A>T (p.Ser191Cys) c.55A>T (p.Ser19Cys) n.817A>T | |
1 | g.154571389G>A | CA342630365 | CHRNB2 | c.566G>A (p.Ser189Asn) c.572G>A (p.Ser191Asn) c.56G>A (p.Ser19Asn) n.818G>A | |
1 | g.154571389G>C | CA342630366 | CHRNB2 | c.566G>C (p.Ser189Thr) c.572G>C (p.Ser191Thr) c.56G>C (p.Ser19Thr) n.818G>C | |
1 | g.154571389G>T | CA342630367 | CHRNB2 | c.566G>T (p.Ser189Ile) c.572G>T (p.Ser191Ile) c.56G>T (p.Ser19Ile) n.818G>T | |
1 | g.154571390T>A | CA342630368 | CHRNB2 | c.567T>A (p.Ser189Arg) c.573T>A (p.Ser191Arg) c.57T>A (p.Ser19Arg) n.819T>A | |
1 | g.154571390T>C | CA421230954 | CHRNB2 | c.567T>C (p.Ser189=) c.573T>C (p.Ser191=) c.57T>C (p.Ser19=) n.819T>C | |
1 | g.154571390T>G | CA342630369 | CHRNB2 | c.567T>G (p.Ser189Arg) c.573T>G (p.Ser191Arg) c.57T>G (p.Ser19Arg) n.819T>G | |
1 | g.154571391G>A | CA342630372 | CHRNB2 | c.568G>A (p.Glu190Lys) c.574G>A (p.Glu192Lys) c.58G>A (p.Glu20Lys) n.820G>A | |
1 | g.154571391G>C | CA342630370 | CHRNB2 | c.568G>C (p.Glu190Gln) c.574G>C (p.Glu192Gln) c.58G>C (p.Glu20Gln) n.820G>C | |
1 | g.154571391G= | CA2480925245 | CHRNB2 | c.568G= (p.Glu190=) c.574G= (p.Glu192=) c.58G= (p.Glu20=) n.820G= | |
1 | g.154571391G>T | CA342630371 | CHRNB2 | c.568G>T (p.Glu190Ter) c.574G>T (p.Glu192Ter) c.58G>T (p.Glu20Ter) n.820G>T | dbSNP gnomAD v2 gnomAD v4 |
1 | g.154571392A>C | CA342630373 | CHRNB2 | c.569A>C (p.Glu190Ala) c.575A>C (p.Glu192Ala) c.59A>C (p.Glu20Ala) n.821A>C | |
1 | g.154571392A>G | CA342630374 | CHRNB2 | c.569A>G (p.Glu190Gly) c.575A>G (p.Glu192Gly) c.59A>G (p.Glu20Gly) n.821A>G | |
1 | g.154571392A>T | CA342630375 | CHRNB2 | c.569A>T (p.Glu190Val) c.575A>T (p.Glu192Val) c.59A>T (p.Glu20Val) n.821A>T | |
1 | g.154571393G>A | CA421231004 | CHRNB2 | c.570G>A (p.Glu190=) c.576G>A (p.Glu192=) c.60G>A (p.Glu20=) n.822G>A | gnomAD v4 |
1 | g.154571393G>C | CA342630376 | CHRNB2 | c.570G>C (p.Glu190Asp) c.576G>C (p.Glu192Asp) c.60G>C (p.Glu20Asp) n.822G>C | |
1 | g.154571393G>T | CA342630377 | CHRNB2 | c.570G>T (p.Glu190Asp) c.576G>T (p.Glu192Asp) c.60G>T (p.Glu20Asp) n.822G>T | COSMIC |
1 | g.154571394G>A | CA342630378 | CHRNB2 | c.571G>A (p.Val191Met) c.577G>A (p.Val193Met) c.61G>A (p.Val21Met) n.823G>A | |
1 | g.154571394G>C | CA342630380 | CHRNB2 | c.571G>C (p.Val191Leu) c.577G>C (p.Val193Leu) c.61G>C (p.Val21Leu) n.823G>C | |
1 | g.154571394G>T | CA342630379 | CHRNB2 | c.571G>T (p.Val191Leu) c.577G>T (p.Val193Leu) c.61G>T (p.Val21Leu) n.823G>T | ClinVar dbSNP |
1 | g.154571395T>A | CA342630381 | CHRNB2 | c.572T>A (p.Val191Glu) c.578T>A (p.Val193Glu) c.62T>A (p.Val21Glu) n.824T>A | |
1 | g.154571395T>C | CA342630382 | CHRNB2 | c.572T>C (p.Val191Ala) c.578T>C (p.Val193Ala) c.62T>C (p.Val21Ala) n.824T>C | |
1 | g.154571395T>G | CA342630383 | CHRNB2 | c.572T>G (p.Val191Gly) c.578T>G (p.Val193Gly) c.62T>G (p.Val21Gly) n.824T>G | |
1 | g.154571396G>A | CA421231006 | CHRNB2 | c.573G>A (p.Val191=) c.579G>A (p.Val193=) c.63G>A (p.Val21=) n.825G>A | |
1 | g.154571396G>C | CA421231008 | CHRNB2 | c.573G>C (p.Val191=) c.579G>C (p.Val193=) c.63G>C (p.Val21=) n.825G>C | |
1 | g.154571396G>T | CA421231009 | CHRNB2 | c.573G>T (p.Val191=) c.579G>T (p.Val193=) c.63G>T (p.Val21=) n.825G>T | |
1 | g.154571397del | CA2648169931 | CHRNB2 | c.574del (p.Ala192ProfsTer?) c.580del (p.Ala194ProfsTer?) c.64del (p.Ala22ProfsTer?) n.826del | gnomAD v4 |
1 | g.154571397G>A | CA342630384 | CHRNB2 | c.574G>A (p.Ala192Thr) c.580G>A (p.Ala194Thr) c.64G>A (p.Ala22Thr) n.826G>A | |
1 | g.154571397G>C | CA342630385 | CHRNB2 | c.574G>C (p.Ala192Pro) c.580G>C (p.Ala194Pro) c.64G>C (p.Ala22Pro) n.826G>C | |
1 | g.154571397G>T | CA342630386 | CHRNB2 | c.574G>T (p.Ala192Ser) c.580G>T (p.Ala194Ser) c.64G>T (p.Ala22Ser) n.826G>T | |
1 | g.154571398C>A | CA342630387 | CHRNB2 | c.575C>A (p.Ala192Asp) c.581C>A (p.Ala194Asp) c.65C>A (p.Ala22Asp) n.827C>A | |
1 | g.154571398C>G | CA342630388 | CHRNB2 | c.575C>G (p.Ala192Gly) c.581C>G (p.Ala194Gly) c.65C>G (p.Ala22Gly) n.827C>G | gnomAD v4 |
1 | g.154571398C>T | CA342630389 | CHRNB2 | c.575C>T (p.Ala192Val) c.581C>T (p.Ala194Val) c.65C>T (p.Ala22Val) n.827C>T | |
1 | g.154571399C>A | CA421231013 | CHRNB2 | c.576C>A (p.Ala192=) c.582C>A (p.Ala194=) c.66C>A (p.Ala22=) n.828C>A | |
1 | g.154571399C>G | CA421231014 | CHRNB2 | c.576C>G (p.Ala192=) c.582C>G (p.Ala194=) c.66C>G (p.Ala22=) n.828C>G | |
1 | g.154571399C>T | CA421231015 | CHRNB2 | c.576C>T (p.Ala192=) c.582C>T (p.Ala194=) c.66C>T (p.Ala22=) n.828C>T | gnomAD v4 |
1 | g.154571400A>C | CA342630390 | CHRNB2 | c.577A>C (p.Ser193Arg) c.583A>C (p.Ser195Arg) c.67A>C (p.Ser23Arg) n.829A>C | |
1 | g.154571400A>G | CA342630391 | CHRNB2 | c.577A>G (p.Ser193Gly) c.583A>G (p.Ser195Gly) c.67A>G (p.Ser23Gly) n.829A>G | gnomAD v4 |
1 | g.154571400A>T | CA342630392 | CHRNB2 | c.577A>T (p.Ser193Cys) c.583A>T (p.Ser195Cys) c.67A>T (p.Ser23Cys) n.829A>T | gnomAD v4 |
1 | g.154571401G>A | CA342630394 | CHRNB2 | c.578G>A (p.Ser193Asn) c.584G>A (p.Ser195Asn) c.68G>A (p.Ser23Asn) n.830G>A | |
1 | g.154571401G>C | CA342630395 | CHRNB2 | c.578G>C (p.Ser193Thr) c.584G>C (p.Ser195Thr) c.68G>C (p.Ser23Thr) n.830G>C | |
1 | g.154571401G>T | CA342630393 | CHRNB2 | c.578G>T (p.Ser193Ile) c.584G>T (p.Ser195Ile) c.68G>T (p.Ser23Ile) n.830G>T | ClinVar dbSNP |
1 | g.154571402C>A | CA342630397 | CHRNB2 | c.579C>A (p.Ser193Arg) c.585C>A (p.Ser195Arg) c.69C>A (p.Ser23Arg) n.831C>A | |
1 | g.154571402C>G | CA342630396 | CHRNB2 | c.579C>G (p.Ser193Arg) c.585C>G (p.Ser195Arg) c.69C>G (p.Ser23Arg) n.831C>G | |
1 | g.154571402C>T | CA421231022 | CHRNB2 | c.579C>T (p.Ser193=) c.585C>T (p.Ser195=) c.69C>T (p.Ser23=) n.831C>T | |
1 | g.154571403C>A | CA342630398 | CHRNB2 | c.580C>A (p.Leu194Met) c.586C>A (p.Leu196Met) c.70C>A (p.Leu24Met) n.832C>A | COSMIC |
1 | g.154571403C= | CA2480925246 | CHRNB2 | c.580C= (p.Leu194=) c.586C= (p.Leu196=) c.70C= (p.Leu24=) n.832C= | |
1 | g.154571403C>G | CA342630399 | CHRNB2 | c.580C>G (p.Leu194Val) c.586C>G (p.Leu196Val) c.70C>G (p.Leu24Val) n.832C>G | dbSNP |
1 | g.154571403C>T | CA421231025 | CHRNB2 | c.580C>T (p.Leu194=) c.586C>T (p.Leu196=) c.70C>T (p.Leu24=) n.832C>T | gnomAD v4 |
1 | g.154571404T>A | CA342630400 | CHRNB2 | c.581T>A (p.Leu194Gln) c.587T>A (p.Leu196Gln) c.71T>A (p.Leu24Gln) n.833T>A | |
1 | g.154571404T>C | CA342630401 | CHRNB2 | c.581T>C (p.Leu194Pro) c.587T>C (p.Leu196Pro) c.71T>C (p.Leu24Pro) n.833T>C | |
1 | g.154571404T>G | CA342630402 | CHRNB2 | c.581T>G (p.Leu194Arg) c.587T>G (p.Leu196Arg) c.71T>G (p.Leu24Arg) n.833T>G | |
1 | g.154571405G>A | CA421231026 | CHRNB2 | c.582G>A (p.Leu194=) c.588G>A (p.Leu196=) c.72G>A (p.Leu24=) n.834G>A | |
1 | g.154571405G>C | CA421231027 | CHRNB2 | c.582G>C (p.Leu194=) c.588G>C (p.Leu196=) c.72G>C (p.Leu24=) n.834G>C | |
1 | g.154571405G>T | CA421231029 | CHRNB2 | c.582G>T (p.Leu194=) c.588G>T (p.Leu196=) c.72G>T (p.Leu24=) n.834G>T | |
1 | g.154571406G>A | CA342630403 | CHRNB2 | c.583G>A (p.Asp195Asn) c.589G>A (p.Asp197Asn) c.73G>A (p.Asp25Asn) n.835G>A | |
1 | g.154571406G>C | CA342630404 | CHRNB2 | c.583G>C (p.Asp195His) c.589G>C (p.Asp197His) c.73G>C (p.Asp25His) n.835G>C | |
1 | g.154571406G>T | CA342630405 | CHRNB2 | c.583G>T (p.Asp195Tyr) c.589G>T (p.Asp197Tyr) c.73G>T (p.Asp25Tyr) n.835G>T | |
1 | g.154571409_154571411del | CA2573914294 | CHRNB2 | c.586_588del (p.Asp196del) c.592_594del (p.Asp198del) c.76_78del (p.Asp26del) n.838_840del | |
1 | g.154571407A>C | CA342630406 | CHRNB2 | c.584A>C (p.Asp195Ala) c.590A>C (p.Asp197Ala) c.74A>C (p.Asp25Ala) n.836A>C | |
1 | g.154571407A>G | CA342630407 | CHRNB2 | c.584A>G (p.Asp195Gly) c.590A>G (p.Asp197Gly) c.74A>G (p.Asp25Gly) n.836A>G | |
1 | g.154571407A>T | CA342630408 | CHRNB2 | c.584A>T (p.Asp195Val) c.590A>T (p.Asp197Val) c.74A>T (p.Asp25Val) n.836A>T | |
1 | g.154571408C>A | CA342630410 | CHRNB2 | c.585C>A (p.Asp195Glu) c.591C>A (p.Asp197Glu) c.75C>A (p.Asp25Glu) n.837C>A | |
1 | g.154571408C= | CA2480925247 | CHRNB2 | c.585C= (p.Asp195=) c.591C= (p.Asp197=) c.75C= (p.Asp25=) n.837C= | |
1 | g.154571408C>G | CA342630409 | CHRNB2 | c.585C>G (p.Asp195Glu) c.591C>G (p.Asp197Glu) c.75C>G (p.Asp25Glu) n.837C>G | |
1 | g.154571408C>T | CA1130745 | CHRNB2 | c.585C>T (p.Asp195=) c.591C>T (p.Asp197=) c.75C>T (p.Asp25=) n.837C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.154571409G>A | CA342630411 | CHRNB2 | c.586G>A (p.Asp196Asn) c.592G>A (p.Asp198Asn) c.76G>A (p.Asp26Asn) n.838G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.154571409G>C | CA342630412 | CHRNB2 | c.586G>C (p.Asp196His) c.592G>C (p.Asp198His) c.76G>C (p.Asp26His) n.838G>C | |
1 | g.154571409G= | CA2480925248 | CHRNB2 | c.586G= (p.Asp196=) c.592G= (p.Asp198=) c.76G= (p.Asp26=) n.838G= | |
1 | g.154571409G>T | CA342630413 | CHRNB2 | c.586G>T (p.Asp196Tyr) c.592G>T (p.Asp198Tyr) c.76G>T (p.Asp26Tyr) n.838G>T | COSMIC |
1 | g.154571410A>C | CA342630414 | CHRNB2 | c.587A>C (p.Asp196Ala) c.593A>C (p.Asp198Ala) c.77A>C (p.Asp26Ala) n.839A>C | |
1 | g.154571410A>G | CA342630415 | CHRNB2 | c.587A>G (p.Asp196Gly) c.593A>G (p.Asp198Gly) c.77A>G (p.Asp26Gly) n.839A>G | |
1 | g.154571410A>T | CA342630416 | CHRNB2 | c.587A>T (p.Asp196Val) c.593A>T (p.Asp198Val) c.77A>T (p.Asp26Val) n.839A>T | |
1 | g.154571411C>A | CA342630417 | CHRNB2 | c.588C>A (p.Asp196Glu) c.594C>A (p.Asp198Glu) c.78C>A (p.Asp26Glu) n.840C>A | |
1 | g.154571411C>G | CA342630418 | CHRNB2 | c.588C>G (p.Asp196Glu) c.594C>G (p.Asp198Glu) c.78C>G (p.Asp26Glu) n.840C>G | |
1 | g.154571411C>T | CA421231040 | CHRNB2 | c.588C>T (p.Asp196=) c.594C>T (p.Asp198=) c.78C>T (p.Asp26=) n.840C>T | |
1 | g.154571412T>A | CA342630419 | CHRNB2 | c.589T>A (p.Phe197Ile) c.595T>A (p.Phe199Ile) c.79T>A (p.Phe27Ile) n.841T>A | |
1 | g.154571412T>C | CA342630420 | CHRNB2 | c.589T>C (p.Phe197Leu) c.595T>C (p.Phe199Leu) c.79T>C (p.Phe27Leu) n.841T>C | |
1 | g.154571412T>G | CA342630421 | CHRNB2 | c.589T>G (p.Phe197Val) c.595T>G (p.Phe199Val) c.79T>G (p.Phe27Val) n.841T>G | |
1 | g.154571413T>A | CA342630423 | CHRNB2 | c.590T>A (p.Phe197Tyr) c.596T>A (p.Phe199Tyr) c.80T>A (p.Phe27Tyr) n.842T>A | |
1 | g.154571413T>C | CA342630424 | CHRNB2 | c.590T>C (p.Phe197Ser) c.596T>C (p.Phe199Ser) c.80T>C (p.Phe27Ser) n.842T>C | dbSNP |
1 | g.154571413T>G | CA342630422 | CHRNB2 | c.590T>G (p.Phe197Cys) c.596T>G (p.Phe199Cys) c.80T>G (p.Phe27Cys) n.842T>G | |
1 | g.154571414C>A | CA342630425 | CHRNB2 | c.591C>A (p.Phe197Leu) c.597C>A (p.Phe199Leu) c.81C>A (p.Phe27Leu) n.843C>A | |
1 | g.154571414C>G | CA342630426 | CHRNB2 | c.591C>G (p.Phe197Leu) c.597C>G (p.Phe199Leu) c.81C>G (p.Phe27Leu) n.843C>G | |
1 | g.154571414C>T | CA421231047 | CHRNB2 | c.591C>T (p.Phe197=) c.597C>T (p.Phe199=) c.81C>T (p.Phe27=) n.843C>T | gnomAD v4 |
1 | g.154571415A>C | CA342630427 | CHRNB2 | c.592A>C (p.Thr198Pro) c.598A>C (p.Thr200Pro) c.82A>C (p.Thr28Pro) n.844A>C | |
1 | g.154571415A>G | CA342630428 | CHRNB2 | c.592A>G (p.Thr198Ala) c.598A>G (p.Thr200Ala) c.82A>G (p.Thr28Ala) n.844A>G | gnomAD v4 |
1 | g.154571415A>T | CA342630429 | CHRNB2 | c.592A>T (p.Thr198Ser) c.598A>T (p.Thr200Ser) c.82A>T (p.Thr28Ser) n.844A>T | gnomAD v4 |
1 | g.154571416C>A | CA342630430 | CHRNB2 | c.593C>A (p.Thr198Lys) c.599C>A (p.Thr200Lys) c.83C>A (p.Thr28Lys) n.845C>A | |
1 | g.154571416C= | CA1143427474 | CHRNB2 | c.593C= (p.Thr198=) c.599C= (p.Thr200=) c.83C= (p.Thr28=) n.845C= | |
1 | g.154571416C>G | CA342630431 | CHRNB2 | c.593C>G (p.Thr198Arg) c.599C>G (p.Thr200Arg) c.83C>G (p.Thr28Arg) n.845C>G | |
1 | g.154571416C>T | CA30834216 | CHRNB2 | c.593C>T (p.Thr198Ile) c.599C>T (p.Thr200Ile) c.83C>T (p.Thr28Ile) n.845C>T | ClinVar dbSNP gnomAD v4 |
1 | g.154571417A= | CA1149154710 | CHRNB2 | c.594A= (p.Thr198=) c.600A= (p.Thr200=) c.84A= (p.Thr28=) n.846A= | |
1 | g.154571417A>C | CA421231054 | CHRNB2 | c.594A>C (p.Thr198=) c.600A>C (p.Thr200=) c.84A>C (p.Thr28=) n.846A>C | |
1 | g.154571417A>G | CA1130746 | CHRNB2 | c.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 |
1 | g.154571417A>T | CA421231056 | CHRNB2 | c.594A>T (p.Thr198=) c.600A>T (p.Thr200=) c.84A>T (p.Thr28=) n.846A>T | |
1 | g.154571418C>A | CA342630432 | CHRNB2 | c.595C>A (p.Pro199Thr) c.601C>A (p.Pro201Thr) c.85C>A (p.Pro29Thr) n.847C>A | |
1 | g.154571418C>G | CA342630433 | CHRNB2 | c.595C>G (p.Pro199Ala) c.601C>G (p.Pro201Ala) c.85C>G (p.Pro29Ala) n.847C>G | |
1 | g.154571418C>T | CA342630434 | CHRNB2 | c.595C>T (p.Pro199Ser) c.601C>T (p.Pro201Ser) c.85C>T (p.Pro29Ser) n.847C>T | |
1 | g.154571419C>A | CA342630436 | CHRNB2 | c.596C>A (p.Pro199His) c.602C>A (p.Pro201His) c.86C>A (p.Pro29His) n.848C>A | |
1 | g.154571419C>G | CA342630437 | CHRNB2 | c.596C>G (p.Pro199Arg) c.602C>G (p.Pro201Arg) c.86C>G (p.Pro29Arg) n.848C>G | |
1 | g.154571419C>T | CA342630435 | CHRNB2 | c.596C>T (p.Pro199Leu) c.602C>T (p.Pro201Leu) c.86C>T (p.Pro29Leu) n.848C>T | |
1 | g.154571420T>A | CA421231061 | CHRNB2 | c.597T>A (p.Pro199=) c.603T>A (p.Pro201=) c.87T>A (p.Pro29=) n.849T>A | |
1 | g.154571420T>C | CA421231063 | CHRNB2 | c.597T>C (p.Pro199=) c.603T>C (p.Pro201=) c.87T>C (p.Pro29=) n.849T>C | |
1 | g.154571420T>G | CA421231064 | CHRNB2 | c.597T>G (p.Pro199=) c.603T>G (p.Pro201=) c.87T>G (p.Pro29=) n.849T>G | |
1 | g.154571421A>C | CA342630438 | CHRNB2 | c.598A>C (p.Ser200Arg) c.604A>C (p.Ser202Arg) c.88A>C (p.Ser30Arg) n.850A>C | |
1 | g.154571421A>G | CA342630439 | CHRNB2 | c.598A>G (p.Ser200Gly) c.604A>G (p.Ser202Gly) c.88A>G (p.Ser30Gly) n.850A>G | |
1 | g.154571421A>T | CA342630440 | CHRNB2 | c.598A>T (p.Ser200Cys) c.604A>T (p.Ser202Cys) c.88A>T (p.Ser30Cys) n.850A>T | |
1 | g.154571422G>A | CA342630441 | CHRNB2 | c.599G>A (p.Ser200Asn) c.605G>A (p.Ser202Asn) c.89G>A (p.Ser30Asn) n.851G>A | ClinVar dbSNP gnomAD v4 |
1 | g.154571422G>C | CA1130747 | CHRNB2 | c.599G>C (p.Ser200Thr) c.605G>C (p.Ser202Thr) c.89G>C (p.Ser30Thr) n.851G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.154571422G= | CA2480925249 | CHRNB2 | c.599G= (p.Ser200=) c.605G= (p.Ser202=) c.89G= (p.Ser30=) n.851G= | |
1 | g.154571422G>T | CA342630442 | CHRNB2 | c.599G>T (p.Ser200Ile) c.605G>T (p.Ser202Ile) c.89G>T (p.Ser30Ile) n.851G>T | |
1 | g.154571423T>A | CA342630444 | CHRNB2 | c.600T>A (p.Ser200Arg) c.606T>A (p.Ser202Arg) c.90T>A (p.Ser30Arg) n.852T>A | |
1 | g.154571423T>C | CA421231071 | CHRNB2 | c.600T>C (p.Ser200=) c.606T>C (p.Ser202=) c.90T>C (p.Ser30=) n.852T>C | dbSNP gnomAD v4 |
1 | g.154571423T>G | CA342630443 | CHRNB2 | c.600T>G (p.Ser200Arg) c.606T>G (p.Ser202Arg) c.90T>G (p.Ser30Arg) n.852T>G | |
1 | g.154571424G>A | CA342630445 | CHRNB2 | c.601G>A (p.Gly201Ser) c.607G>A (p.Gly203Ser) c.91G>A (p.Gly31Ser) n.853G>A | |
1 | g.154571424G>C | CA342630446 | CHRNB2 | c.601G>C (p.Gly201Arg) c.607G>C (p.Gly203Arg) c.91G>C (p.Gly31Arg) n.853G>C | |
1 | g.154571424G>T | CA342630447 | CHRNB2 | c.601G>T (p.Gly201Cys) c.607G>T (p.Gly203Cys) c.91G>T (p.Gly31Cys) n.853G>T | |
1 | g.154571425G>A | CA1130748 | CHRNB2 | c.602G>A (p.Gly201Asp) c.608G>A (p.Gly203Asp) c.92G>A (p.Gly31Asp) n.854G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.154571425G>C | CA342630448 | CHRNB2 | c.602G>C (p.Gly201Ala) c.608G>C (p.Gly203Ala) c.92G>C (p.Gly31Ala) n.854G>C | |
1 | g.154571425G= | CA2480925250 | CHRNB2 | c.602G= (p.Gly201=) c.608G= (p.Gly203=) c.92G= (p.Gly31=) n.854G= | |
1 | g.154571425G>T | CA342630449 | CHRNB2 | c.602G>T (p.Gly201Val) c.608G>T (p.Gly203Val) c.92G>T (p.Gly31Val) n.854G>T | |
1 | g.154571426T>A | CA421231078 | CHRNB2 | c.603T>A (p.Gly201=) c.609T>A (p.Gly203=) c.93T>A (p.Gly31=) n.855T>A | |
1 | g.154571426T>C | CA421231081 | CHRNB2 | c.603T>C (p.Gly201=) c.609T>C (p.Gly203=) c.93T>C (p.Gly31=) n.855T>C | COSMIC |
1 | g.154571426T>G | CA421231082 | CHRNB2 | c.603T>G (p.Gly201=) c.609T>G (p.Gly203=) c.93T>G (p.Gly31=) n.855T>G | |
1 | g.154571427G>A | CA342630452 | CHRNB2 | c.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 |
1 | g.154571427G>C | CA342630451 | CHRNB2 | c.604G>C (p.Glu202Gln) c.610G>C (p.Glu204Gln) c.94G>C (p.Glu32Gln) n.856G>C | |
1 | g.154571427G= | CA2480925251 | CHRNB2 | c.604G= (p.Glu202=) c.610G= (p.Glu204=) c.94G= (p.Glu32=) n.856G= | |
1 | g.154571427G>T | CA342630450 | CHRNB2 | c.604G>T (p.Glu202Ter) c.610G>T (p.Glu204Ter) c.94G>T (p.Glu32Ter) n.856G>T | |
1 | g.154571428A>C | CA342630453 | CHRNB2 | c.605A>C (p.Glu202Ala) c.611A>C (p.Glu204Ala) c.95A>C (p.Glu32Ala) n.857A>C | |
1 | g.154571428A>G | CA342630455 | CHRNB2 | c.605A>G (p.Glu202Gly) c.611A>G (p.Glu204Gly) c.95A>G (p.Glu32Gly) n.857A>G | gnomAD v4 |
1 | g.154571428A>T | CA342630454 | CHRNB2 | c.605A>T (p.Glu202Val) c.611A>T (p.Glu204Val) c.95A>T (p.Glu32Val) n.857A>T | |
1 | g.154571429G>A | CA421231083 | CHRNB2 | c.606G>A (p.Glu202=) c.612G>A (p.Glu204=) c.96G>A (p.Glu32=) n.858G>A | |
1 | g.154571429G>C | CA342630456 | CHRNB2 | c.606G>C (p.Glu202Asp) c.612G>C (p.Glu204Asp) c.96G>C (p.Glu32Asp) n.858G>C | dbSNP gnomAD v3 gnomAD v4 |
1 | g.154571429G= | CA2480925252 | CHRNB2 | c.606G= (p.Glu202=) c.612G= (p.Glu204=) c.96G= (p.Glu32=) n.858G= | |
1 | g.154571429G>T | CA342630457 | CHRNB2 | c.606G>T (p.Glu202Asp) c.612G>T (p.Glu204Asp) c.96G>T (p.Glu32Asp) n.858G>T | |
1 | g.154571430T>A | CA342630458 | CHRNB2 | c.607T>A (p.Trp203Arg) c.613T>A (p.Trp205Arg) c.97T>A (p.Trp33Arg) n.859T>A | |
1 | g.154571430T>C | CA342630460 | CHRNB2 | c.607T>C (p.Trp203Arg) c.613T>C (p.Trp205Arg) c.97T>C (p.Trp33Arg) n.859T>C | |
1 | g.154571430T>G | CA342630459 | CHRNB2 | c.607T>G (p.Trp203Gly) c.613T>G (p.Trp205Gly) c.97T>G (p.Trp33Gly) n.859T>G | |
1 | g.154571431G>A | CA342630461 | CHRNB2 | c.608G>A (p.Trp203Ter) c.614G>A (p.Trp205Ter) c.98G>A (p.Trp33Ter) n.860G>A | gnomAD v4 |
1 | g.154571431G>C | CA342630462 | CHRNB2 | c.608G>C (p.Trp203Ser) c.614G>C (p.Trp205Ser) c.98G>C (p.Trp33Ser) n.860G>C | |
1 | g.154571431G>T | CA342630463 | CHRNB2 | c.608G>T (p.Trp203Leu) c.614G>T (p.Trp205Leu) c.98G>T (p.Trp33Leu) n.860G>T |