Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.27463605_27463619delCA2686678232CHRNA2c.831_845del (p.Leu278_Leu282del)
c.*661_*675del (n.*661_*675del)
c.786_800del (p.Leu263_Leu267del)
n.290-1858_290-1844del
c.765_779del (p.Leu256_Leu260del)
c.*233_*247del (n.*233_*247del)
c.354_368del (p.Leu119_Leu123del)
c.237_251del (p.Leu80_Leu84del)
 gnomAD v4
8g.27463608_27463643dupCA2686678233CHRNA2c.803_838dup (p.Ile279_Ser280insTyrThrIleAsnLeuIleIleProCysLeuLeuIle)
c.*633_*668dup (n.*633_*668dup)
c.758_793dup (p.Ile264_Ser265insTyrThrIleAsnLeuIleIleProCysLeuLeuIle)
n.290-1886_290-1851dup
c.737_772dup (p.Ile257_Ser258insTyrThrIleAsnLeuIleIleProCysLeuLeuIle)
c.*205_*240dup (n.*205_*240dup)
c.326_361dup (p.Ile120_Ser121insTyrThrIleAsnLeuIleIleProCysLeuLeuIle)
c.209_244dup (p.Ile81_Ser82insTyrThrIleAsnLeuIleIleProCysLeuLeuIle)
 gnomAD v4
8g.27463613A>CCA370810559CHRNA2c.830T>G (p.Leu277Arg)
c.*660T>G (n.*660T>G)
c.785T>G (p.Leu262Arg)
n.290-1859T>G
c.764T>G (p.Leu255Arg)
c.*232T>G (n.*232T>G)
c.353T>G (p.Leu118Arg)
c.236T>G (p.Leu79Arg)
8g.27463613A>GCA370810561CHRNA2c.830T>C (p.Leu277Pro)
c.*660T>C (n.*660T>C)
c.785T>C (p.Leu262Pro)
n.290-1859T>C
c.764T>C (p.Leu255Pro)
c.*232T>C (n.*232T>C)
c.353T>C (p.Leu118Pro)
c.236T>C (p.Leu79Pro)
8g.27463613A>TCA370810562CHRNA2c.830T>A (p.Leu277Gln)
c.*660T>A (n.*660T>A)
c.785T>A (p.Leu262Gln)
n.290-1859T>A
c.764T>A (p.Leu255Gln)
c.*232T>A (n.*232T>A)
c.353T>A (p.Leu118Gln)
c.236T>A (p.Leu79Gln)
8g.27463614G>ACA460186081CHRNA2c.829C>T (p.Leu277=)
c.*659C>T (n.*659C>T)
c.784C>T (p.Leu262=)
n.290-1860C>T
c.763C>T (p.Leu255=)
c.*231C>T (n.*231C>T)
c.352C>T (p.Leu118=)
c.235C>T (p.Leu79=)
 gnomAD v4
8g.27463614G>CCA370810563CHRNA2c.829C>G (p.Leu277Val)
c.*659C>G (n.*659C>G)
c.784C>G (p.Leu262Val)
n.290-1860C>G
c.763C>G (p.Leu255Val)
c.*231C>G (n.*231C>G)
c.352C>G (p.Leu118Val)
c.235C>G (p.Leu79Val)
8g.27463614G>TCA370810564CHRNA2c.829C>A (p.Leu277Met)
c.*659C>A (n.*659C>A)
c.784C>A (p.Leu262Met)
n.290-1860C>A
c.763C>A (p.Leu255Met)
c.*231C>A (n.*231C>A)
c.352C>A (p.Leu118Met)
c.235C>A (p.Leu79Met)
8g.27463615G>ACA460186082CHRNA2c.828C>T (p.Cys276=)
c.*658C>T (n.*658C>T)
c.783C>T (p.Cys261=)
n.290-1861C>T
c.762C>T (p.Cys254=)
c.*230C>T (n.*230C>T)
c.351C>T (p.Cys117=)
c.234C>T (p.Cys78=)
8g.27463615G>CCA370810567CHRNA2c.828C>G (p.Cys276Trp)
c.*658C>G (n.*658C>G)
c.783C>G (p.Cys261Trp)
n.290-1861C>G
c.762C>G (p.Cys254Trp)
c.*230C>G (n.*230C>G)
c.351C>G (p.Cys117Trp)
c.234C>G (p.Cys78Trp)
8g.27463615G=CA1772814482CHRNA2c.828C= (p.Cys276=)
c.*658C= (n.*658C=)
c.783C= (p.Cys261=)
n.290-1861C=
c.762C= (p.Cys254=)
c.*230C= (n.*230C=)
c.351C= (p.Cys117=)
c.234C= (p.Cys78=)
8g.27463615G>TCA370810566CHRNA2c.828C>A (p.Cys276Ter)
c.*658C>A (n.*658C>A)
c.783C>A (p.Cys261Ter)
n.290-1861C>A
c.762C>A (p.Cys254Ter)
c.*230C>A (n.*230C>A)
c.351C>A (p.Cys117Ter)
c.234C>A (p.Cys78Ter)
 dbSNP gnomAD v2 gnomAD v4
8g.27463616C>ACA370810568CHRNA2c.827G>T (p.Cys276Phe)
c.*657G>T (n.*657G>T)
c.782G>T (p.Cys261Phe)
n.290-1862G>T
c.761G>T (p.Cys254Phe)
c.*229G>T (n.*229G>T)
c.350G>T (p.Cys117Phe)
c.233G>T (p.Cys78Phe)
8g.27463616C>GCA370810571CHRNA2c.827G>C (p.Cys276Ser)
c.*657G>C (n.*657G>C)
c.782G>C (p.Cys261Ser)
n.290-1862G>C
c.761G>C (p.Cys254Ser)
c.*229G>C (n.*229G>C)
c.350G>C (p.Cys117Ser)
c.233G>C (p.Cys78Ser)
8g.27463616C>TCA370810569CHRNA2c.827G>A (p.Cys276Tyr)
c.*657G>A (n.*657G>A)
c.782G>A (p.Cys261Tyr)
n.290-1862G>A
c.761G>A (p.Cys254Tyr)
c.*229G>A (n.*229G>A)
c.350G>A (p.Cys117Tyr)
c.233G>A (p.Cys78Tyr)
8g.27463617A=CA1772814483CHRNA2c.826T= (p.Cys276=)
c.*656T= (n.*656T=)
c.781T= (p.Cys261=)
n.290-1863T=
c.760T= (p.Cys254=)
c.*228T= (n.*228T=)
c.349T= (p.Cys117=)
c.232T= (p.Cys78=)
8g.27463617A>CCA370810572CHRNA2c.826T>G (p.Cys276Gly)
c.*656T>G (n.*656T>G)
c.781T>G (p.Cys261Gly)
n.290-1863T>G
c.760T>G (p.Cys254Gly)
c.*228T>G (n.*228T>G)
c.349T>G (p.Cys117Gly)
c.232T>G (p.Cys78Gly)
8g.27463617A>GCA370810576CHRNA2c.826T>C (p.Cys276Arg)
c.*656T>C (n.*656T>C)
c.781T>C (p.Cys261Arg)
n.290-1863T>C
c.760T>C (p.Cys254Arg)
c.*228T>C (n.*228T>C)
c.349T>C (p.Cys117Arg)
c.232T>C (p.Cys78Arg)
 gnomAD v4
8g.27463617A>TCA370810574CHRNA2c.826T>A (p.Cys276Ser)
c.*656T>A (n.*656T>A)
c.781T>A (p.Cys261Ser)
n.290-1863T>A
c.760T>A (p.Cys254Ser)
c.*228T>A (n.*228T>A)
c.349T>A (p.Cys117Ser)
c.232T>A (p.Cys78Ser)
8g.27463617dupCA645550785CHRNA2c.826dup (p.Cys276LeufsTer?)
c.*656dup (n.*656dup)
c.781dup (p.Cys261LeufsTer?)
n.290-1863dup
c.760dup (p.Cys254LeufsTer?)
c.*228dup (n.*228dup)
c.349dup (p.Cys117LeufsTer?)
c.232dup (p.Cys78LeufsTer?)
 COSMIC
8g.27463618G>ACA460186088CHRNA2c.825C>T (p.Pro275=)
c.*655C>T (n.*655C>T)
c.780C>T (p.Pro260=)
n.290-1864C>T
c.759C>T (p.Pro253=)
c.*227C>T (n.*227C>T)
c.348C>T (p.Pro116=)
c.231C>T (p.Pro77=)
 gnomAD v4
8g.27463618G>CCA460186089CHRNA2c.825C>G (p.Pro275=)
c.*655C>G (n.*655C>G)
c.780C>G (p.Pro260=)
n.290-1864C>G
c.759C>G (p.Pro253=)
c.*227C>G (n.*227C>G)
c.348C>G (p.Pro116=)
c.231C>G (p.Pro77=)
8g.27463618G>TCA460186090CHRNA2c.825C>A (p.Pro275=)
c.*655C>A (n.*655C>A)
c.780C>A (p.Pro260=)
n.290-1864C>A
c.759C>A (p.Pro253=)
c.*227C>A (n.*227C>A)
c.348C>A (p.Pro116=)
c.231C>A (p.Pro77=)
8g.27463621dupCA4689590CHRNA2c.825dup (p.Cys276LeufsTer?)
c.*655dup (n.*655dup)
c.780dup (p.Cys261LeufsTer?)
n.290-1864dup
c.759dup (p.Cys254LeufsTer?)
c.*227dup (n.*227dup)
c.348dup (p.Cys117LeufsTer?)
c.231dup (p.Cys78LeufsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.27463619G>ACA370810577CHRNA2c.824C>T (p.Pro275Leu)
c.*654C>T (n.*654C>T)
c.779C>T (p.Pro260Leu)
n.290-1865C>T
c.758C>T (p.Pro253Leu)
c.*226C>T (n.*226C>T)
c.347C>T (p.Pro116Leu)
c.230C>T (p.Pro77Leu)
 ClinVar
8g.27463619G>CCA370810579CHRNA2c.824C>G (p.Pro275Arg)
c.*654C>G (n.*654C>G)
c.779C>G (p.Pro260Arg)
n.290-1865C>G
c.758C>G (p.Pro253Arg)
c.*226C>G (n.*226C>G)
c.347C>G (p.Pro116Arg)
c.230C>G (p.Pro77Arg)
 dbSNP gnomAD v3 gnomAD v4
8g.27463619G=CA1772814484CHRNA2c.824C= (p.Pro275=)
c.*654C= (n.*654C=)
c.779C= (p.Pro260=)
n.290-1865C=
c.758C= (p.Pro253=)
c.*226C= (n.*226C=)
c.347C= (p.Pro116=)
c.230C= (p.Pro77=)
8g.27463619G>TCA370810580CHRNA2c.824C>A (p.Pro275His)
c.*654C>A (n.*654C>A)
c.779C>A (p.Pro260His)
n.290-1865C>A
c.758C>A (p.Pro253His)
c.*226C>A (n.*226C>A)
c.347C>A (p.Pro116His)
c.230C>A (p.Pro77His)
8g.27463620G>ACA370810582CHRNA2c.823C>T (p.Pro275Ser)
c.*653C>T (n.*653C>T)
c.778C>T (p.Pro260Ser)
n.290-1866C>T
c.757C>T (p.Pro253Ser)
c.*225C>T (n.*225C>T)
c.346C>T (p.Pro116Ser)
c.229C>T (p.Pro77Ser)
 gnomAD v4
8g.27463620G>CCA370810583CHRNA2c.823C>G (p.Pro275Ala)
c.*653C>G (n.*653C>G)
c.778C>G (p.Pro260Ala)
n.290-1866C>G
c.757C>G (p.Pro253Ala)
c.*225C>G (n.*225C>G)
c.346C>G (p.Pro116Ala)
c.229C>G (p.Pro77Ala)
8g.27463620G>TCA370810585CHRNA2c.823C>A (p.Pro275Thr)
c.*653C>A (n.*653C>A)
c.778C>A (p.Pro260Thr)
n.290-1866C>A
c.757C>A (p.Pro253Thr)
c.*225C>A (n.*225C>A)
c.346C>A (p.Pro116Thr)
c.229C>A (p.Pro77Thr)
8g.27463621G>ACA460186095CHRNA2c.822C>T (p.Ile274=)
c.*652C>T (n.*652C>T)
c.777C>T (p.Ile259=)
n.290-1867C>T
c.756C>T (p.Ile252=)
c.*224C>T (n.*224C>T)
c.345C>T (p.Ile115=)
c.228C>T (p.Ile76=)
 gnomAD v4
8g.27463621G>CCA370810586CHRNA2c.822C>G (p.Ile274Met)
c.*652C>G (n.*652C>G)
c.777C>G (p.Ile259Met)
n.290-1867C>G
c.756C>G (p.Ile252Met)
c.*224C>G (n.*224C>G)
c.345C>G (p.Ile115Met)
c.228C>G (p.Ile76Met)
 ClinVar dbSNP gnomAD v4
8g.27463621G=CA1772814485CHRNA2c.822C= (p.Ile274=)
c.*652C= (n.*652C=)
c.777C= (p.Ile259=)
n.290-1867C=
c.756C= (p.Ile252=)
c.*224C= (n.*224C=)
c.345C= (p.Ile115=)
c.228C= (p.Ile76=)
8g.27463621G>TCA460186100CHRNA2c.822C>A (p.Ile274=)
c.*652C>A (n.*652C>A)
c.777C>A (p.Ile259=)
n.290-1867C>A
c.756C>A (p.Ile252=)
c.*224C>A (n.*224C>A)
c.345C>A (p.Ile115=)
c.228C>A (p.Ile76=)
 gnomAD v4
8g.27463622A>CCA370810588CHRNA2c.821T>G (p.Ile274Ser)
c.*651T>G (n.*651T>G)
c.776T>G (p.Ile259Ser)
n.290-1868T>G
c.755T>G (p.Ile252Ser)
c.*223T>G (n.*223T>G)
c.344T>G (p.Ile115Ser)
c.227T>G (p.Ile76Ser)
8g.27463622A>GCA370810590CHRNA2c.821T>C (p.Ile274Thr)
c.*651T>C (n.*651T>C)
c.776T>C (p.Ile259Thr)
n.290-1868T>C
c.755T>C (p.Ile252Thr)
c.*223T>C (n.*223T>C)
c.344T>C (p.Ile115Thr)
c.227T>C (p.Ile76Thr)
8g.27463622A>TCA370810592CHRNA2c.821T>A (p.Ile274Asn)
c.*651T>A (n.*651T>A)
c.776T>A (p.Ile259Asn)
n.290-1868T>A
c.755T>A (p.Ile252Asn)
c.*223T>A (n.*223T>A)
c.344T>A (p.Ile115Asn)
c.227T>A (p.Ile76Asn)
8g.27463623T>ACA370810595CHRNA2c.820A>T (p.Ile274Phe)
c.*650A>T (n.*650A>T)
c.775A>T (p.Ile259Phe)
n.290-1869A>T
c.754A>T (p.Ile252Phe)
c.*222A>T (n.*222A>T)
c.343A>T (p.Ile115Phe)
c.226A>T (p.Ile76Phe)
8g.27463623T>CCA370810593CHRNA2c.820A>G (p.Ile274Val)
c.*650A>G (n.*650A>G)
c.775A>G (p.Ile259Val)
n.290-1869A>G
c.754A>G (p.Ile252Val)
c.*222A>G (n.*222A>G)
c.343A>G (p.Ile115Val)
c.226A>G (p.Ile76Val)
8g.27463623T>GCA370810594CHRNA2c.820A>C (p.Ile274Leu)
c.*650A>C (n.*650A>C)
c.775A>C (p.Ile259Leu)
n.290-1869A>C
c.754A>C (p.Ile252Leu)
c.*222A>C (n.*222A>C)
c.343A>C (p.Ile115Leu)
c.226A>C (p.Ile76Leu)
8g.27463651_27463652insGGCTGGGGCTGATGAGGTTGATGGTGTAGAAGAGCGGCCA2686678235CHRNA2c.820_821insGCCCCAGCCGCCGCTCTTCTACACCATCAACCTCATCA (p.Ile274SerfsTer?)
c.*650_*651insGCCCCAGCCGCCGCTCTTCTACACCATCAACCTCATCA (n.*650_*651insGCCCCAGCCGCCGCTCTTCTACACCATCAACCTCATCA)
c.775_776insGCCCCAGCCGCCGCTCTTCTACACCATCAACCTCATCA (p.Ile259SerfsTer?)
n.290-1869_290-1868insGCCCCAGCCGCCGCTCTTCTACACCATCAACCTCATCA
c.754_755insGCCCCAGCCGCCGCTCTTCTACACCATCAACCTCATCA (p.Ile252SerfsTer?)
c.*222_*223insGCCCCAGCCGCCGCTCTTCTACACCATCAACCTCATCA (n.*222_*223insGCCCCAGCCGCCGCTCTTCTACACCATCAACCTCATCA)
c.343_344insGCCCCAGCCGCCGCTCTTCTACACCATCAACCTCATCA (p.Ile115SerfsTer?)
c.226_227insGCCCCAGCCGCCGCTCTTCTACACCATCAACCTCATCA (p.Ile76SerfsTer?)
 dbSNP gnomAD v4
8g.27463624G>ACA460186105CHRNA2c.819C>T (p.Ile273=)
c.*649C>T (n.*649C>T)
c.774C>T (p.Ile258=)
n.290-1870C>T
c.753C>T (p.Ile251=)
c.*221C>T (n.*221C>T)
c.342C>T (p.Ile114=)
c.225C>T (p.Ile75=)
8g.27463624G>CCA370810597CHRNA2c.819C>G (p.Ile273Met)
c.*649C>G (n.*649C>G)
c.774C>G (p.Ile258Met)
n.290-1870C>G
c.753C>G (p.Ile251Met)
c.*221C>G (n.*221C>G)
c.342C>G (p.Ile114Met)
c.225C>G (p.Ile75Met)
8g.27463624G>TCA460186104CHRNA2c.819C>A (p.Ile273=)
c.*649C>A (n.*649C>A)
c.774C>A (p.Ile258=)
n.290-1870C>A
c.753C>A (p.Ile251=)
c.*221C>A (n.*221C>A)
c.342C>A (p.Ile114=)
c.225C>A (p.Ile75=)
8g.27463625A>CCA370810598CHRNA2c.818T>G (p.Ile273Ser)
c.*648T>G (n.*648T>G)
c.773T>G (p.Ile258Ser)
n.290-1871T>G
c.752T>G (p.Ile251Ser)
c.*220T>G (n.*220T>G)
c.341T>G (p.Ile114Ser)
c.224T>G (p.Ile75Ser)
8g.27463625A>GCA370810600CHRNA2c.818T>C (p.Ile273Thr)
c.*648T>C (n.*648T>C)
c.773T>C (p.Ile258Thr)
n.290-1871T>C
c.752T>C (p.Ile251Thr)
c.*220T>C (n.*220T>C)
c.341T>C (p.Ile114Thr)
c.224T>C (p.Ile75Thr)
8g.27463625A>TCA370810601CHRNA2c.818T>A (p.Ile273Asn)
c.*648T>A (n.*648T>A)
c.773T>A (p.Ile258Asn)
n.290-1871T>A
c.752T>A (p.Ile251Asn)
c.*220T>A (n.*220T>A)
c.341T>A (p.Ile114Asn)
c.224T>A (p.Ile75Asn)
8g.27463626T>ACA370810603CHRNA2c.817A>T (p.Ile273Phe)
c.*647A>T (n.*647A>T)
c.772A>T (p.Ile258Phe)
n.290-1872A>T
c.751A>T (p.Ile251Phe)
c.*219A>T (n.*219A>T)
c.340A>T (p.Ile114Phe)
c.223A>T (p.Ile75Phe)
8g.27463626T>CCA370810605CHRNA2c.817A>G (p.Ile273Val)
c.*647A>G (n.*647A>G)
c.772A>G (p.Ile258Val)
n.290-1872A>G
c.751A>G (p.Ile251Val)
c.*219A>G (n.*219A>G)
c.340A>G (p.Ile114Val)
c.223A>G (p.Ile75Val)
8g.27463626T>GCA370810606CHRNA2c.817A>C (p.Ile273Leu)
c.*647A>C (n.*647A>C)
c.772A>C (p.Ile258Leu)
n.290-1872A>C
c.751A>C (p.Ile251Leu)
c.*219A>C (n.*219A>C)
c.340A>C (p.Ile114Leu)
c.223A>C (p.Ile75Leu)
8g.27463627G>ACA460186110CHRNA2c.816C>T (p.Leu272=)
c.*646C>T (n.*646C>T)
c.771C>T (p.Leu257=)
n.290-1873C>T
c.750C>T (p.Leu250=)
c.*218C>T (n.*218C>T)
c.339C>T (p.Leu113=)
c.222C>T (p.Leu74=)
8g.27463627G>CCA460186111CHRNA2c.816C>G (p.Leu272=)
c.*646C>G (n.*646C>G)
c.771C>G (p.Leu257=)
n.290-1873C>G
c.750C>G (p.Leu250=)
c.*218C>G (n.*218C>G)
c.339C>G (p.Leu113=)
c.222C>G (p.Leu74=)
8g.27463627G>TCA460186112CHRNA2c.816C>A (p.Leu272=)
c.*646C>A (n.*646C>A)
c.771C>A (p.Leu257=)
n.290-1873C>A
c.750C>A (p.Leu250=)
c.*218C>A (n.*218C>A)
c.339C>A (p.Leu113=)
c.222C>A (p.Leu74=)
8g.27463628A>CCA370810608CHRNA2c.815T>G (p.Leu272Arg)
c.*645T>G (n.*645T>G)
c.770T>G (p.Leu257Arg)
n.290-1874T>G
c.749T>G (p.Leu250Arg)
n.545T>G
c.*217T>G (n.*217T>G)
c.338T>G (p.Leu113Arg)
c.221T>G (p.Leu74Arg)
8g.27463628A>GCA370810609CHRNA2c.815T>C (p.Leu272Pro)
c.*645T>C (n.*645T>C)
c.770T>C (p.Leu257Pro)
n.290-1874T>C
c.749T>C (p.Leu250Pro)
n.545T>C
c.*217T>C (n.*217T>C)
c.338T>C (p.Leu113Pro)
c.221T>C (p.Leu74Pro)
8g.27463628A>TCA370810611CHRNA2c.815T>A (p.Leu272His)
c.*645T>A (n.*645T>A)
c.770T>A (p.Leu257His)
n.290-1874T>A
c.749T>A (p.Leu250His)
n.545T>A
c.*217T>A (n.*217T>A)
c.338T>A (p.Leu113His)
c.221T>A (p.Leu74His)
 ClinVar
8g.27463629G>ACA4689591CHRNA2c.814C>T (p.Leu272Phe)
c.*644C>T (n.*644C>T)
c.769C>T (p.Leu257Phe)
n.290-1875C>T
c.748C>T (p.Leu250Phe)
n.544C>T
c.*216C>T (n.*216C>T)
c.337C>T (p.Leu113Phe)
c.220C>T (p.Leu74Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.27463629G>CCA370810613CHRNA2c.814C>G (p.Leu272Val)
c.*644C>G (n.*644C>G)
c.769C>G (p.Leu257Val)
n.290-1875C>G
c.748C>G (p.Leu250Val)
n.544C>G
c.*216C>G (n.*216C>G)
c.337C>G (p.Leu113Val)
c.220C>G (p.Leu74Val)
8g.27463629G=CA1772814486CHRNA2c.814C= (p.Leu272=)
c.*644C= (n.*644C=)
c.769C= (p.Leu257=)
n.290-1875C=
c.748C= (p.Leu250=)
n.544C=
c.*216C= (n.*216C=)
c.337C= (p.Leu113=)
c.220C= (p.Leu74=)
8g.27463629G>TCA370810612CHRNA2c.814C>A (p.Leu272Ile)
c.*644C>A (n.*644C>A)
c.769C>A (p.Leu257Ile)
n.290-1875C>A
c.748C>A (p.Leu250Ile)
n.544C>A
c.*216C>A (n.*216C>A)
c.337C>A (p.Leu113Ile)
c.220C>A (p.Leu74Ile)
8g.27463630G>ACA460186116CHRNA2c.813C>T (p.Asn271=)
c.*643C>T (n.*643C>T)
c.768C>T (p.Asn256=)
n.290-1876C>T
c.747C>T (p.Asn249=)
n.543C>T
c.*215C>T (n.*215C>T)
c.336C>T (p.Asn112=)
c.219C>T (p.Asn73=)
 gnomAD v4
8g.27463630G>CCA370810615CHRNA2c.813C>G (p.Asn271Lys)
c.*643C>G (n.*643C>G)
c.768C>G (p.Asn256Lys)
n.290-1876C>G
c.747C>G (p.Asn249Lys)
n.543C>G
c.*215C>G (n.*215C>G)
c.336C>G (p.Asn112Lys)
c.219C>G (p.Asn73Lys)
8g.27463630G>TCA370810617CHRNA2c.813C>A (p.Asn271Lys)
c.*643C>A (n.*643C>A)
c.768C>A (p.Asn256Lys)
n.290-1876C>A
c.747C>A (p.Asn249Lys)
n.543C>A
c.*215C>A (n.*215C>A)
c.336C>A (p.Asn112Lys)
c.219C>A (p.Asn73Lys)
8g.27463631T>ACA370810618CHRNA2c.812A>T (p.Asn271Ile)
c.*642A>T (n.*642A>T)
c.767A>T (p.Asn256Ile)
n.290-1877A>T
c.746A>T (p.Asn249Ile)
n.542A>T
c.*214A>T (n.*214A>T)
c.335A>T (p.Asn112Ile)
c.218A>T (p.Asn73Ile)
8g.27463631T>CCA370810620CHRNA2c.812A>G (p.Asn271Ser)
c.*642A>G (n.*642A>G)
c.767A>G (p.Asn256Ser)
n.290-1877A>G
c.746A>G (p.Asn249Ser)
n.542A>G
c.*214A>G (n.*214A>G)
c.335A>G (p.Asn112Ser)
c.218A>G (p.Asn73Ser)
8g.27463631T>GCA370810621CHRNA2c.812A>C (p.Asn271Thr)
c.*642A>C (n.*642A>C)
c.767A>C (p.Asn256Thr)
n.290-1877A>C
c.746A>C (p.Asn249Thr)
n.542A>C
c.*214A>C (n.*214A>C)
c.335A>C (p.Asn112Thr)
c.218A>C (p.Asn73Thr)
 dbSNP
8g.27463631T=CA1772814487CHRNA2c.812A= (p.Asn271=)
c.*642A= (n.*642A=)
c.767A= (p.Asn256=)
n.290-1877A=
c.746A= (p.Asn249=)
n.542A=
c.*214A= (n.*214A=)
c.335A= (p.Asn112=)
c.218A= (p.Asn73=)
8g.27463632T>ACA370810623CHRNA2c.811A>T (p.Asn271Tyr)
c.*641A>T (n.*641A>T)
c.766A>T (p.Asn256Tyr)
n.290-1878A>T
c.745A>T (p.Asn249Tyr)
n.541A>T
c.*213A>T (n.*213A>T)
c.334A>T (p.Asn112Tyr)
c.217A>T (p.Asn73Tyr)
8g.27463632T>CCA370810630CHRNA2c.811A>G (p.Asn271Asp)
c.*641A>G (n.*641A>G)
c.766A>G (p.Asn256Asp)
n.290-1878A>G
c.745A>G (p.Asn249Asp)
n.541A>G
c.*213A>G (n.*213A>G)
c.334A>G (p.Asn112Asp)
c.217A>G (p.Asn73Asp)
8g.27463632T>GCA370810632CHRNA2c.811A>C (p.Asn271His)
c.*641A>C (n.*641A>C)
c.766A>C (p.Asn256His)
n.290-1878A>C
c.745A>C (p.Asn249His)
n.541A>C
c.*213A>C (n.*213A>C)
c.334A>C (p.Asn112His)
c.217A>C (p.Asn73His)
8g.27463633G>ACA460186119CHRNA2c.810C>T (p.Ile270=)
c.*640C>T (n.*640C>T)
c.765C>T (p.Ile255=)
n.290-1879C>T
c.744C>T (p.Ile248=)
n.540C>T
c.*212C>T (n.*212C>T)
c.333C>T (p.Ile111=)
c.216C>T (p.Ile72=)
 COSMIC
8g.27463633G>CCA174242240CHRNA2c.810C>G (p.Ile270Met)
c.*640C>G (n.*640C>G)
c.765C>G (p.Ile255Met)
n.290-1879C>G
c.744C>G (p.Ile248Met)
n.540C>G
c.*212C>G (n.*212C>G)
c.333C>G (p.Ile111Met)
c.216C>G (p.Ile72Met)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.27463633G=CA1772814488CHRNA2c.810C= (p.Ile270=)
c.*640C= (n.*640C=)
c.765C= (p.Ile255=)
n.290-1879C=
c.744C= (p.Ile248=)
n.540C=
c.*212C= (n.*212C=)
c.333C= (p.Ile111=)
c.216C= (p.Ile72=)
8g.27463633G>TCA460186121CHRNA2c.810C>A (p.Ile270=)
c.*640C>A (n.*640C>A)
c.765C>A (p.Ile255=)
n.290-1879C>A
c.744C>A (p.Ile248=)
n.540C>A
c.*212C>A (n.*212C>A)
c.333C>A (p.Ile111=)
c.216C>A (p.Ile72=)
8g.27463634A>CCA370810635CHRNA2c.809T>G (p.Ile270Ser)
c.*639T>G (n.*639T>G)
c.764T>G (p.Ile255Ser)
n.290-1880T>G
c.743T>G (p.Ile248Ser)
n.539T>G
c.*211T>G (n.*211T>G)
c.332T>G (p.Ile111Ser)
c.215T>G (p.Ile72Ser)
8g.27463634A>GCA370810637CHRNA2c.809T>C (p.Ile270Thr)
c.*639T>C (n.*639T>C)
c.764T>C (p.Ile255Thr)
n.290-1880T>C
c.743T>C (p.Ile248Thr)
n.539T>C
c.*211T>C (n.*211T>C)
c.332T>C (p.Ile111Thr)
c.215T>C (p.Ile72Thr)
 ClinVar dbSNP
8g.27463634A>TCA370810639CHRNA2c.809T>A (p.Ile270Asn)
c.*639T>A (n.*639T>A)
c.764T>A (p.Ile255Asn)
n.290-1880T>A
c.743T>A (p.Ile248Asn)
n.539T>A
c.*211T>A (n.*211T>A)
c.332T>A (p.Ile111Asn)
c.215T>A (p.Ile72Asn)
8g.27463635T>ACA370810641CHRNA2c.808A>T (p.Ile270Phe)
c.*638A>T (n.*638A>T)
c.763A>T (p.Ile255Phe)
n.290-1881A>T
c.742A>T (p.Ile248Phe)
n.538A>T
c.*210A>T (n.*210A>T)
c.331A>T (p.Ile111Phe)
c.214A>T (p.Ile72Phe)
8g.27463635T>CCA370810643CHRNA2c.808A>G (p.Ile270Val)
c.*638A>G (n.*638A>G)
c.763A>G (p.Ile255Val)
n.290-1881A>G
c.742A>G (p.Ile248Val)
n.538A>G
c.*210A>G (n.*210A>G)
c.331A>G (p.Ile111Val)
c.214A>G (p.Ile72Val)
 dbSNP gnomAD v3 gnomAD v4
8g.27463635T>GCA370810640CHRNA2c.808A>C (p.Ile270Leu)
c.*638A>C (n.*638A>C)
c.763A>C (p.Ile255Leu)
n.290-1881A>C
c.742A>C (p.Ile248Leu)
n.538A>C
c.*210A>C (n.*210A>C)
c.331A>C (p.Ile111Leu)
c.214A>C (p.Ile72Leu)
8g.27463635T=CA1772814489CHRNA2c.808A= (p.Ile270=)
c.*638A= (n.*638A=)
c.763A= (p.Ile255=)
n.290-1881A=
c.742A= (p.Ile248=)
n.538A=
c.*210A= (n.*210A=)
c.331A= (p.Ile111=)
c.214A= (p.Ile72=)
8g.27463636G>ACA460186127CHRNA2c.807C>T (p.Thr269=)
c.*637C>T (n.*637C>T)
c.762C>T (p.Thr254=)
n.290-1882C>T
c.741C>T (p.Thr247=)
n.537C>T
c.*209C>T (n.*209C>T)
c.330C>T (p.Thr110=)
c.213C>T (p.Thr71=)
8g.27463636G>CCA460186131CHRNA2c.807C>G (p.Thr269=)
c.*637C>G (n.*637C>G)
c.762C>G (p.Thr254=)
n.290-1882C>G
c.741C>G (p.Thr247=)
n.537C>G
c.*209C>G (n.*209C>G)
c.330C>G (p.Thr110=)
c.213C>G (p.Thr71=)
8g.27463636G>TCA460186132CHRNA2c.807C>A (p.Thr269=)
c.*637C>A (n.*637C>A)
c.762C>A (p.Thr254=)
n.290-1882C>A
c.741C>A (p.Thr247=)
n.537C>A
c.*209C>A (n.*209C>A)
c.330C>A (p.Thr110=)
c.213C>A (p.Thr71=)
 gnomAD v4
8g.27463637G>ACA370810645CHRNA2c.806C>T (p.Thr269Ile)
c.*636C>T (n.*636C>T)
c.761C>T (p.Thr254Ile)
n.290-1883C>T
c.740C>T (p.Thr247Ile)
n.536C>T
c.*208C>T (n.*208C>T)
c.329C>T (p.Thr110Ile)
c.212C>T (p.Thr71Ile)
8g.27463637G>CCA370810646CHRNA2c.806C>G (p.Thr269Ser)
c.*636C>G (n.*636C>G)
c.761C>G (p.Thr254Ser)
n.290-1883C>G
c.740C>G (p.Thr247Ser)
n.536C>G
c.*208C>G (n.*208C>G)
c.329C>G (p.Thr110Ser)
c.212C>G (p.Thr71Ser)
8g.27463637G=CA1772814490CHRNA2c.806C= (p.Thr269=)
c.*636C= (n.*636C=)
c.761C= (p.Thr254=)
n.290-1883C=
c.740C= (p.Thr247=)
n.536C=
c.*208C= (n.*208C=)
c.329C= (p.Thr110=)
c.212C= (p.Thr71=)
8g.27463637G>TCA370810648CHRNA2c.806C>A (p.Thr269Asn)
c.*636C>A (n.*636C>A)
c.761C>A (p.Thr254Asn)
n.290-1883C>A
c.740C>A (p.Thr247Asn)
n.536C>A
c.*208C>A (n.*208C>A)
c.329C>A (p.Thr110Asn)
c.212C>A (p.Thr71Asn)
 dbSNP gnomAD v3 gnomAD v4
8g.27463638T>ACA370810649CHRNA2c.805A>T (p.Thr269Ser)
c.*635A>T (n.*635A>T)
c.760A>T (p.Thr254Ser)
n.290-1884A>T
c.739A>T (p.Thr247Ser)
n.535A>T
c.*207A>T (n.*207A>T)
c.328A>T (p.Thr110Ser)
c.211A>T (p.Thr71Ser)
8g.27463638T>CCA370810650CHRNA2c.805A>G (p.Thr269Ala)
c.*635A>G (n.*635A>G)
c.760A>G (p.Thr254Ala)
n.290-1884A>G
c.739A>G (p.Thr247Ala)
n.535A>G
c.*207A>G (n.*207A>G)
c.328A>G (p.Thr110Ala)
c.211A>G (p.Thr71Ala)
 gnomAD v4
8g.27463638T>GCA370810652CHRNA2c.805A>C (p.Thr269Pro)
c.*635A>C (n.*635A>C)
c.760A>C (p.Thr254Pro)
n.290-1884A>C
c.739A>C (p.Thr247Pro)
n.535A>C
c.*207A>C (n.*207A>C)
c.328A>C (p.Thr110Pro)
c.211A>C (p.Thr71Pro)
8g.27463639G>ACA460186138CHRNA2c.804C>T (p.Tyr268=)
c.*634C>T (n.*634C>T)
c.759C>T (p.Tyr253=)
n.290-1885C>T
c.738C>T (p.Tyr246=)
n.534C>T
c.*206C>T (n.*206C>T)
c.327C>T (p.Tyr109=)
c.210C>T (p.Tyr70=)
8g.27463639G>CCA370810654CHRNA2c.804C>G (p.Tyr268Ter)
c.*634C>G (n.*634C>G)
c.759C>G (p.Tyr253Ter)
n.290-1885C>G
c.738C>G (p.Tyr246Ter)
n.534C>G
c.*206C>G (n.*206C>G)
c.327C>G (p.Tyr109Ter)
c.210C>G (p.Tyr70Ter)
8g.27463639G>TCA370810656CHRNA2c.804C>A (p.Tyr268Ter)
c.*634C>A (n.*634C>A)
c.759C>A (p.Tyr253Ter)
n.290-1885C>A
c.738C>A (p.Tyr246Ter)
n.534C>A
c.*206C>A (n.*206C>A)
c.327C>A (p.Tyr109Ter)
c.210C>A (p.Tyr70Ter)
8g.27463640T>ACA370810657CHRNA2c.803A>T (p.Tyr268Phe)
c.*633A>T (n.*633A>T)
c.758A>T (p.Tyr253Phe)
n.290-1886A>T
c.737A>T (p.Tyr246Phe)
n.533A>T
c.*205A>T (n.*205A>T)
c.326A>T (p.Tyr109Phe)
c.209A>T (p.Tyr70Phe)
8g.27463640T>CCA370810659CHRNA2c.803A>G (p.Tyr268Cys)
c.*633A>G (n.*633A>G)
c.758A>G (p.Tyr253Cys)
n.290-1886A>G
c.737A>G (p.Tyr246Cys)
n.533A>G
c.*205A>G (n.*205A>G)
c.326A>G (p.Tyr109Cys)
c.209A>G (p.Tyr70Cys)
8g.27463640T>GCA370810661CHRNA2c.803A>C (p.Tyr268Ser)
c.*633A>C (n.*633A>C)
c.758A>C (p.Tyr253Ser)
n.290-1886A>C
c.737A>C (p.Tyr246Ser)
n.533A>C
c.*205A>C (n.*205A>C)
c.326A>C (p.Tyr109Ser)
c.209A>C (p.Tyr70Ser)
8g.27463641A>CCA370810663CHRNA2c.802T>G (p.Tyr268Asp)
c.*632T>G (n.*632T>G)
c.757T>G (p.Tyr253Asp)
n.290-1887T>G
c.736T>G (p.Tyr246Asp)
n.532T>G
c.*204T>G (n.*204T>G)
c.325T>G (p.Tyr109Asp)
c.208T>G (p.Tyr70Asp)
8g.27463641A>GCA370810664CHRNA2c.802T>C (p.Tyr268His)
c.*632T>C (n.*632T>C)
c.757T>C (p.Tyr253His)
n.290-1887T>C
c.736T>C (p.Tyr246His)
n.532T>C
c.*204T>C (n.*204T>C)
c.325T>C (p.Tyr109His)
c.208T>C (p.Tyr70His)
8g.27463641A>TCA370810665CHRNA2c.802T>A (p.Tyr268Asn)
c.*632T>A (n.*632T>A)
c.757T>A (p.Tyr253Asn)
n.290-1887T>A
c.736T>A (p.Tyr246Asn)
n.532T>A
c.*204T>A (n.*204T>A)
c.325T>A (p.Tyr109Asn)
c.208T>A (p.Tyr70Asn)
8g.27463642G>ACA460186142CHRNA2c.801C>T (p.Phe267=)
c.*631C>T (n.*631C>T)
c.756C>T (p.Phe252=)
n.290-1888C>T
c.735C>T (p.Phe245=)
n.531C>T
c.*203C>T (n.*203C>T)
c.324C>T (p.Phe108=)
c.207C>T (p.Phe69=)
8g.27463642G>CCA370810668CHRNA2c.801C>G (p.Phe267Leu)
c.*631C>G (n.*631C>G)
c.756C>G (p.Phe252Leu)
n.290-1888C>G
c.735C>G (p.Phe245Leu)
n.531C>G
c.*203C>G (n.*203C>G)
c.324C>G (p.Phe108Leu)
c.207C>G (p.Phe69Leu)
8g.27463642G>TCA370810667CHRNA2c.801C>A (p.Phe267Leu)
c.*631C>A (n.*631C>A)
c.756C>A (p.Phe252Leu)
n.290-1888C>A
c.735C>A (p.Phe245Leu)
n.531C>A
c.*203C>A (n.*203C>A)
c.324C>A (p.Phe108Leu)
c.207C>A (p.Phe69Leu)
8g.27463643A>CCA370810670CHRNA2c.800T>G (p.Phe267Cys)
c.*630T>G (n.*630T>G)
c.755T>G (p.Phe252Cys)
n.290-1889T>G
c.734T>G (p.Phe245Cys)
n.530T>G
c.*202T>G (n.*202T>G)
c.323T>G (p.Phe108Cys)
c.206T>G (p.Phe69Cys)
8g.27463643A>GCA370810672CHRNA2c.800T>C (p.Phe267Ser)
c.*630T>C (n.*630T>C)
c.755T>C (p.Phe252Ser)
n.290-1889T>C
c.734T>C (p.Phe245Ser)
n.530T>C
c.*202T>C (n.*202T>C)
c.323T>C (p.Phe108Ser)
c.206T>C (p.Phe69Ser)
8g.27463643A>TCA370810671CHRNA2c.800T>A (p.Phe267Tyr)
c.*630T>A (n.*630T>A)
c.755T>A (p.Phe252Tyr)
n.290-1889T>A
c.734T>A (p.Phe245Tyr)
n.530T>A
c.*202T>A (n.*202T>A)
c.323T>A (p.Phe108Tyr)
c.206T>A (p.Phe69Tyr)
8g.27463644A=CA1772814491CHRNA2c.799T= (p.Phe267=)
c.*629T= (n.*629T=)
c.754T= (p.Phe252=)
n.290-1890T=
c.733T= (p.Phe245=)
n.529T=
c.*201T= (n.*201T=)
c.322T= (p.Phe108=)
c.205T= (p.Phe69=)
8g.27463644A>CCA370810674CHRNA2c.799T>G (p.Phe267Val)
c.*629T>G (n.*629T>G)
c.754T>G (p.Phe252Val)
n.290-1890T>G
c.733T>G (p.Phe245Val)
n.529T>G
c.*201T>G (n.*201T>G)
c.322T>G (p.Phe108Val)
c.205T>G (p.Phe69Val)
8g.27463644A>GCA370810676CHRNA2c.799T>C (p.Phe267Leu)
c.*629T>C (n.*629T>C)
c.754T>C (p.Phe252Leu)
n.290-1890T>C
c.733T>C (p.Phe245Leu)
n.529T>C
c.*201T>C (n.*201T>C)
c.322T>C (p.Phe108Leu)
c.205T>C (p.Phe69Leu)
8g.27463644A>TCA370810677CHRNA2c.799T>A (p.Phe267Ile)
c.*629T>A (n.*629T>A)
c.754T>A (p.Phe252Ile)
n.290-1890T>A
c.733T>A (p.Phe245Ile)
n.529T>A
c.*201T>A (n.*201T>A)
c.322T>A (p.Phe108Ile)
c.205T>A (p.Phe69Ile)
 ClinVar dbSNP
8g.27463645G>ACA460186152CHRNA2c.798C>T (p.Leu266=)
c.*628C>T (n.*628C>T)
c.753C>T (p.Leu251=)
n.290-1891C>T
c.732C>T (p.Leu244=)
n.528C>T
c.*200C>T (n.*200C>T)
c.321C>T (p.Leu107=)
c.204C>T (p.Leu68=)
 dbSNP
8g.27463645G>CCA460186151CHRNA2c.798C>G (p.Leu266=)
c.*628C>G (n.*628C>G)
c.753C>G (p.Leu251=)
n.290-1891C>G
c.732C>G (p.Leu244=)
n.528C>G
c.*200C>G (n.*200C>G)
c.321C>G (p.Leu107=)
c.204C>G (p.Leu68=)
 dbSNP gnomAD v3 gnomAD v4
8g.27463645G=CA1772814492CHRNA2c.798C= (p.Leu266=)
c.*628C= (n.*628C=)
c.753C= (p.Leu251=)
n.290-1891C=
c.732C= (p.Leu244=)
n.528C=
c.*200C= (n.*200C=)
c.321C= (p.Leu107=)
c.204C= (p.Leu68=)
8g.27463645G>TCA460186150CHRNA2c.798C>A (p.Leu266=)
c.*628C>A (n.*628C>A)
c.753C>A (p.Leu251=)
n.290-1891C>A
c.732C>A (p.Leu244=)
n.528C>A
c.*200C>A (n.*200C>A)
c.321C>A (p.Leu107=)
c.204C>A (p.Leu68=)
8g.27463646A>CCA370810679CHRNA2c.797T>G (p.Leu266Arg)
c.*627T>G (n.*627T>G)
c.752T>G (p.Leu251Arg)
n.290-1892T>G
c.731T>G (p.Leu244Arg)
n.527T>G
c.*199T>G (n.*199T>G)
c.320T>G (p.Leu107Arg)
c.203T>G (p.Leu68Arg)
8g.27463646A>GCA370810681CHRNA2c.797T>C (p.Leu266Pro)
c.*627T>C (n.*627T>C)
c.752T>C (p.Leu251Pro)
n.290-1892T>C
c.731T>C (p.Leu244Pro)
n.527T>C
c.*199T>C (n.*199T>C)
c.320T>C (p.Leu107Pro)
c.203T>C (p.Leu68Pro)
8g.27463646A>TCA370810683CHRNA2c.797T>A (p.Leu266His)
c.*627T>A (n.*627T>A)
c.752T>A (p.Leu251His)
n.290-1892T>A
c.731T>A (p.Leu244His)
n.527T>A
c.*199T>A (n.*199T>A)
c.320T>A (p.Leu107His)
c.203T>A (p.Leu68His)
8g.27463647G>ACA370810685CHRNA2c.796C>T (p.Leu266Phe)
c.*626C>T (n.*626C>T)
c.751C>T (p.Leu251Phe)
n.290-1893C>T
c.730C>T (p.Leu244Phe)
n.526C>T
c.*198C>T (n.*198C>T)
c.319C>T (p.Leu107Phe)
c.202C>T (p.Leu68Phe)
8g.27463647G>CCA370810686CHRNA2c.796C>G (p.Leu266Val)
c.*626C>G (n.*626C>G)
c.751C>G (p.Leu251Val)
n.290-1893C>G
c.730C>G (p.Leu244Val)
n.526C>G
c.*198C>G (n.*198C>G)
c.319C>G (p.Leu107Val)
c.202C>G (p.Leu68Val)
8g.27463647G>TCA370810688CHRNA2c.796C>A (p.Leu266Ile)
c.*626C>A (n.*626C>A)
c.751C>A (p.Leu251Ile)
n.290-1893C>A
c.730C>A (p.Leu244Ile)
n.526C>A
c.*198C>A (n.*198C>A)
c.319C>A (p.Leu107Ile)
c.202C>A (p.Leu68Ile)
8g.27463648C>ACA4689593CHRNA2c.795G>T (p.Pro265=)
c.*625G>T (n.*625G>T)
c.750G>T (p.Pro250=)
n.290-1894G>T
c.729G>T (p.Pro243=)
n.525G>T
c.*197G>T (n.*197G>T)
c.318G>T (p.Pro106=)
c.201G>T (p.Pro67=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.27463648C=CA1772814493CHRNA2c.795G= (p.Pro265=)
c.*625G= (n.*625G=)
c.750G= (p.Pro250=)
n.290-1894G=
c.729G= (p.Pro243=)
n.525G=
c.*197G= (n.*197G=)
c.318G= (p.Pro106=)
c.201G= (p.Pro67=)
8g.27463648C>GCA460186157CHRNA2c.795G>C (p.Pro265=)
c.*625G>C (n.*625G>C)
c.750G>C (p.Pro250=)
n.290-1894G>C
c.729G>C (p.Pro243=)
n.525G>C
c.*197G>C (n.*197G>C)
c.318G>C (p.Pro106=)
c.201G>C (p.Pro67=)
8g.27463648C>TCA4689592CHRNA2c.795G>A (p.Pro265=)
c.*625G>A (n.*625G>A)
c.750G>A (p.Pro250=)
n.290-1894G>A
c.729G>A (p.Pro243=)
n.525G>A
c.*197G>A (n.*197G>A)
c.318G>A (p.Pro106=)
c.201G>A (p.Pro67=)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
8g.27463649G>ACA370810693CHRNA2c.794C>T (p.Pro265Leu)
c.*624C>T (n.*624C>T)
c.749C>T (p.Pro250Leu)
n.290-1895C>T
c.728C>T (p.Pro243Leu)
n.524C>T
c.*196C>T (n.*196C>T)
c.317C>T (p.Pro106Leu)
c.200C>T (p.Pro67Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.27463649G>CCA370810691CHRNA2c.794C>G (p.Pro265Arg)
c.*624C>G (n.*624C>G)
c.749C>G (p.Pro250Arg)
n.290-1895C>G
c.728C>G (p.Pro243Arg)
n.524C>G
c.*196C>G (n.*196C>G)
c.317C>G (p.Pro106Arg)
c.200C>G (p.Pro67Arg)
8g.27463649G=CA1772814494CHRNA2c.794C= (p.Pro265=)
c.*624C= (n.*624C=)
c.749C= (p.Pro250=)
n.290-1895C=
c.728C= (p.Pro243=)
n.524C=
c.*196C= (n.*196C=)
c.317C= (p.Pro106=)
c.200C= (p.Pro67=)
8g.27463649G>TCA370810690CHRNA2c.794C>A (p.Pro265Gln)
c.*624C>A (n.*624C>A)
c.749C>A (p.Pro250Gln)
n.290-1895C>A
c.728C>A (p.Pro243Gln)
n.524C>A
c.*196C>A (n.*196C>A)
c.317C>A (p.Pro106Gln)
c.200C>A (p.Pro67Gln)
 gnomAD v4
8g.27463650G>ACA370810694CHRNA2c.793C>T (p.Pro265Ser)
c.*623C>T (n.*623C>T)
c.748C>T (p.Pro250Ser)
n.290-1896C>T
c.727C>T (p.Pro243Ser)
n.523C>T
c.*195C>T (n.*195C>T)
c.316C>T (p.Pro106Ser)
c.199C>T (p.Pro67Ser)
8g.27463650G>CCA370810695CHRNA2c.793C>G (p.Pro265Ala)
c.*623C>G (n.*623C>G)
c.748C>G (p.Pro250Ala)
n.290-1896C>G
c.727C>G (p.Pro243Ala)
n.523C>G
c.*195C>G (n.*195C>G)
c.316C>G (p.Pro106Ala)
c.199C>G (p.Pro67Ala)
8g.27463650G>TCA370810696CHRNA2c.793C>A (p.Pro265Thr)
c.*623C>A (n.*623C>A)
c.748C>A (p.Pro250Thr)
n.290-1896C>A
c.727C>A (p.Pro243Thr)
n.523C>A
c.*195C>A (n.*195C>A)
c.316C>A (p.Pro106Thr)
c.199C>A (p.Pro67Thr)
8g.27463651C>ACA460186160CHRNA2c.792G>T (p.Leu264=)
c.*622G>T (n.*622G>T)
c.747G>T (p.Leu249=)
n.290-1897G>T
c.726G>T (p.Leu242=)
n.522G>T
c.*194G>T (n.*194G>T)
c.315G>T (p.Leu105=)
c.198G>T (p.Leu66=)
8g.27463651C>GCA460186163CHRNA2c.792G>C (p.Leu264=)
c.*622G>C (n.*622G>C)
c.747G>C (p.Leu249=)
n.290-1897G>C
c.726G>C (p.Leu242=)
n.522G>C
c.*194G>C (n.*194G>C)
c.315G>C (p.Leu105=)
c.198G>C (p.Leu66=)
8g.27463651C>TCA460186162CHRNA2c.792G>A (p.Leu264=)
c.*622G>A (n.*622G>A)
c.747G>A (p.Leu249=)
n.290-1897G>A
c.726G>A (p.Leu242=)
n.522G>A
c.*194G>A (n.*194G>A)
c.315G>A (p.Leu105=)
c.198G>A (p.Leu66=)
8g.27463652A>CCA370810697CHRNA2c.791T>G (p.Leu264Arg)
c.*621T>G (n.*621T>G)
c.746T>G (p.Leu249Arg)
n.290-1898T>G
c.725T>G (p.Leu242Arg)
n.521T>G
c.*193T>G (n.*193T>G)
c.314T>G (p.Leu105Arg)
c.197T>G (p.Leu66Arg)
8g.27463652A>GCA370810699CHRNA2c.791T>C (p.Leu264Pro)
c.*621T>C (n.*621T>C)
c.746T>C (p.Leu249Pro)
n.290-1898T>C
c.725T>C (p.Leu242Pro)
n.521T>C
c.*193T>C (n.*193T>C)
c.314T>C (p.Leu105Pro)
c.197T>C (p.Leu66Pro)
8g.27463652A>TCA370810701CHRNA2c.791T>A (p.Leu264Gln)
c.*621T>A (n.*621T>A)
c.746T>A (p.Leu249Gln)
n.290-1898T>A
c.725T>A (p.Leu242Gln)
n.521T>A
c.*193T>A (n.*193T>A)
c.314T>A (p.Leu105Gln)
c.197T>A (p.Leu66Gln)
8g.27463653G>ACA4689594CHRNA2c.790C>T (p.Leu264=)
c.*620C>T (n.*620C>T)
c.745C>T (p.Leu249=)
n.290-1899C>T
c.724C>T (p.Leu242=)
n.520C>T
c.*192C>T (n.*192C>T)
c.313C>T (p.Leu105=)
c.196C>T (p.Leu66=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.27463653G>CCA370810703CHRNA2c.790C>G (p.Leu264Val)
c.*620C>G (n.*620C>G)
c.745C>G (p.Leu249Val)
n.290-1899C>G
c.724C>G (p.Leu242Val)
n.520C>G
c.*192C>G (n.*192C>G)
c.313C>G (p.Leu105Val)
c.196C>G (p.Leu66Val)
8g.27463653G=CA1772814499CHRNA2c.790C= (p.Leu264=)
c.*620C= (n.*620C=)
c.745C= (p.Leu249=)
n.290-1899C=
c.724C= (p.Leu242=)
n.520C=
c.*192C= (n.*192C=)
c.313C= (p.Leu105=)
c.196C= (p.Leu66=)
8g.27463653G>TCA370810704CHRNA2c.790C>A (p.Leu264Met)
c.*620C>A (n.*620C>A)
c.745C>A (p.Leu249Met)
n.290-1899C>A
c.724C>A (p.Leu242Met)
n.520C>A
c.*192C>A (n.*192C>A)
c.313C>A (p.Leu105Met)
c.196C>A (p.Leu66Met)
8g.27463654C>ACA460186169CHRNA2c.789G>T (p.Arg263=)
c.*619G>T (n.*619G>T)
c.744G>T (p.Arg248=)
n.290-1900G>T
c.723G>T (p.Arg241=)
n.519G>T
c.*191G>T (n.*191G>T)
c.312G>T (p.Arg104=)
c.195G>T (p.Arg65=)
8g.27463654C=CA1772814503CHRNA2c.789G= (p.Arg263=)
c.*619G= (n.*619G=)
c.744G= (p.Arg248=)
n.290-1900G=
c.723G= (p.Arg241=)
n.519G=
c.*191G= (n.*191G=)
c.312G= (p.Arg104=)
c.195G= (p.Arg65=)
8g.27463654C>GCA4689595CHRNA2c.789G>C (p.Arg263=)
c.*619G>C (n.*619G>C)
c.744G>C (p.Arg248=)
n.290-1900G>C
c.723G>C (p.Arg241=)
n.519G>C
c.*191G>C (n.*191G>C)
c.312G>C (p.Arg104=)
c.195G>C (p.Arg65=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.27463654C>TCA460186171CHRNA2c.789G>A (p.Arg263=)
c.*619G>A (n.*619G>A)
c.744G>A (p.Arg248=)
n.290-1900G>A
c.723G>A (p.Arg241=)
n.519G>A
c.*191G>A (n.*191G>A)
c.312G>A (p.Arg104=)
c.195G>A (p.Arg65=)
 dbSNP
8g.27463655C>ACA370810706CHRNA2c.788G>T (p.Arg263Leu)
c.*618G>T (n.*618G>T)
c.743G>T (p.Arg248Leu)
n.290-1901G>T
c.722G>T (p.Arg241Leu)
n.518G>T
c.*190G>T (n.*190G>T)
c.311G>T (p.Arg104Leu)
c.194G>T (p.Arg65Leu)
8g.27463655C=CA1772814508CHRNA2c.788G= (p.Arg263=)
c.*618G= (n.*618G=)
c.743G= (p.Arg248=)
n.290-1901G=
c.722G= (p.Arg241=)
n.518G=
c.*190G= (n.*190G=)
c.311G= (p.Arg104=)
c.194G= (p.Arg65=)
8g.27463655C>GCA4689596CHRNA2c.788G>C (p.Arg263Pro)
c.*618G>C (n.*618G>C)
c.743G>C (p.Arg248Pro)
n.290-1901G>C
c.722G>C (p.Arg241Pro)
n.518G>C
c.*190G>C (n.*190G>C)
c.311G>C (p.Arg104Pro)
c.194G>C (p.Arg65Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.27463655C>TCA370810708CHRNA2c.788G>A (p.Arg263Gln)
c.*618G>A (n.*618G>A)
c.743G>A (p.Arg248Gln)
n.290-1901G>A
c.722G>A (p.Arg241Gln)
n.518G>A
c.*190G>A (n.*190G>A)
c.311G>A (p.Arg104Gln)
c.194G>A (p.Arg65Gln)
 dbSNP gnomAD v4
8g.27463656G>ACA174242306CHRNA2c.787C>T (p.Arg263Trp)
c.*617C>T (n.*617C>T)
c.742C>T (p.Arg248Trp)
n.290-1902C>T
c.721C>T (p.Arg241Trp)
n.517C>T
c.*189C>T (n.*189C>T)
c.310C>T (p.Arg104Trp)
c.193C>T (p.Arg65Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.27463656G>CCA370810709CHRNA2c.787C>G (p.Arg263Gly)
c.*617C>G (n.*617C>G)
c.742C>G (p.Arg248Gly)
n.290-1902C>G
c.721C>G (p.Arg241Gly)
n.517C>G
c.*189C>G (n.*189C>G)
c.310C>G (p.Arg104Gly)
c.193C>G (p.Arg65Gly)
8g.27463656G=CA1772814511CHRNA2c.787C= (p.Arg263=)
c.*617C= (n.*617C=)
c.742C= (p.Arg248=)
n.290-1902C=
c.721C= (p.Arg241=)
n.517C=
c.*189C= (n.*189C=)
c.310C= (p.Arg104=)
c.193C= (p.Arg65=)
8g.27463656G>TCA460186173CHRNA2c.787C>A (p.Arg263=)
c.*617C>A (n.*617C>A)
c.742C>A (p.Arg248=)
n.290-1902C>A
c.721C>A (p.Arg241=)
n.517C>A
c.*189C>A (n.*189C>A)
c.310C>A (p.Arg104=)
c.193C>A (p.Arg65=)
8g.27463657C>ACA460186174CHRNA2c.786G>T (p.Arg262=)
c.*616G>T (n.*616G>T)
c.741G>T (p.Arg247=)
n.290-1903G>T
c.720G>T (p.Arg240=)
n.516G>T
c.*188G>T (n.*188G>T)
c.309G>T (p.Arg103=)
c.192G>T (p.Arg64=)
8g.27463657C>GCA460186176CHRNA2c.786G>C (p.Arg262=)
c.*616G>C (n.*616G>C)
c.741G>C (p.Arg247=)
n.290-1903G>C
c.720G>C (p.Arg240=)
n.516G>C
c.*188G>C (n.*188G>C)
c.309G>C (p.Arg103=)
c.192G>C (p.Arg64=)
8g.27463657C>TCA460186177CHRNA2c.786G>A (p.Arg262=)
c.*616G>A (n.*616G>A)
c.741G>A (p.Arg247=)
n.290-1903G>A
c.720G>A (p.Arg240=)
n.516G>A
c.*188G>A (n.*188G>A)
c.309G>A (p.Arg103=)
c.192G>A (p.Arg64=)
8g.27463658C>ACA370810711CHRNA2c.785G>T (p.Arg262Leu)
c.*615G>T (n.*615G>T)
c.740G>T (p.Arg247Leu)
n.290-1904G>T
c.719G>T (p.Arg240Leu)
n.515G>T
c.*187G>T (n.*187G>T)
c.308G>T (p.Arg103Leu)
c.191G>T (p.Arg64Leu)
8g.27463658C=CA1772814514CHRNA2c.785G= (p.Arg262=)
c.*615G= (n.*615G=)
c.740G= (p.Arg247=)
n.290-1904G=
c.719G= (p.Arg240=)
n.515G=
c.*187G= (n.*187G=)
c.308G= (p.Arg103=)
c.191G= (p.Arg64=)
8g.27463658C>GCA370810713CHRNA2c.785G>C (p.Arg262Pro)
c.*615G>C (n.*615G>C)
c.740G>C (p.Arg247Pro)
n.290-1904G>C
c.719G>C (p.Arg240Pro)
n.515G>C
c.*187G>C (n.*187G>C)
c.308G>C (p.Arg103Pro)
c.191G>C (p.Arg64Pro)
8g.27463658C>TCA174242326CHRNA2c.785G>A (p.Arg262Gln)
c.*615G>A (n.*615G>A)
c.740G>A (p.Arg247Gln)
n.290-1904G>A
c.719G>A (p.Arg240Gln)
n.515G>A
c.*187G>A (n.*187G>A)
c.308G>A (p.Arg103Gln)
c.191G>A (p.Arg64Gln)
 dbSNP gnomAD v4
8g.27463658_27463659delinsCGCA1772814515CHRNA2c.784_785delinsCG (p.Arg262=)
c.*614_*615delinsCG (n.*614_*615delinsCG)
c.739_740delinsCG (p.Arg247=)
n.290-1905_290-1904delinsCG
c.718_719delinsCG (p.Arg240=)
n.514_515delinsCG
c.*186_*187delinsCG (n.*186_*187delinsCG)
c.307_308delinsCG (p.Arg103=)
c.190_191delinsCG (p.Arg64=)
8g.27463659G>ACA370810716CHRNA2c.784C>T (p.Arg262Trp)
c.*614C>T (n.*614C>T)
c.739C>T (p.Arg247Trp)
n.290-1905C>T
c.718C>T (p.Arg240Trp)
n.514C>T
c.*186C>T (n.*186C>T)
c.307C>T (p.Arg103Trp)
c.190C>T (p.Arg64Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.27463659G>CCA370810717CHRNA2c.784C>G (p.Arg262Gly)
c.*614C>G (n.*614C>G)
c.739C>G (p.Arg247Gly)
n.290-1905C>G
c.718C>G (p.Arg240Gly)
n.514C>G
c.*186C>G (n.*186C>G)
c.307C>G (p.Arg103Gly)
c.190C>G (p.Arg64Gly)
8g.27463659G=CA1772814521CHRNA2c.784C= (p.Arg262=)
c.*614C= (n.*614C=)
c.739C= (p.Arg247=)
n.290-1905C=
c.718C= (p.Arg240=)
n.514C=
c.*186C= (n.*186C=)
c.307C= (p.Arg103=)
c.190C= (p.Arg64=)
8g.27463659G>TCA460186181CHRNA2c.784C>A (p.Arg262=)
c.*614C>A (n.*614C>A)
c.739C>A (p.Arg247=)
n.290-1905C>A
c.718C>A (p.Arg240=)
n.514C>A
c.*186C>A (n.*186C>A)
c.307C>A (p.Arg103=)
c.190C>A (p.Arg64=)
 gnomAD v4
8g.27463660delCA850385399CHRNA2c.784del (p.Arg262GlyfsTer?)
c.*614del (n.*614del)
c.739del (p.Arg247GlyfsTer?)
n.290-1905del
c.718del (p.Arg240GlyfsTer?)
n.514del
c.*186del (n.*186del)
c.307del (p.Arg103GlyfsTer?)
c.190del (p.Arg64GlyfsTer?)
 ClinVar dbSNP gnomAD v4
8g.27463660G>ACA460186182CHRNA2c.783C>T (p.Ile261=)
c.*613C>T (n.*613C>T)
c.738C>T (p.Ile246=)
n.290-1906C>T
c.717C>T (p.Ile239=)
n.513C>T
c.*185C>T (n.*185C>T)
c.306C>T (p.Ile102=)
c.189C>T (p.Ile63=)
8g.27463660G>CCA370810718CHRNA2c.783C>G (p.Ile261Met)
c.*613C>G (n.*613C>G)
c.738C>G (p.Ile246Met)
n.290-1906C>G
c.717C>G (p.Ile239Met)
n.513C>G
c.*185C>G (n.*185C>G)
c.306C>G (p.Ile102Met)
c.189C>G (p.Ile63Met)
8g.27463660G>TCA460186184CHRNA2c.783C>A (p.Ile261=)
c.*613C>A (n.*613C>A)
c.738C>A (p.Ile246=)
n.290-1906C>A
c.717C>A (p.Ile239=)
n.513C>A
c.*185C>A (n.*185C>A)
c.306C>A (p.Ile102=)
c.189C>A (p.Ile63=)
8g.27463661A=CA1772814523CHRNA2c.782T= (p.Ile261=)
c.*612T= (n.*612T=)
c.737T= (p.Ile246=)
n.290-1907T=
c.716T= (p.Ile239=)
n.512T=
c.*184T= (n.*184T=)
c.305T= (p.Ile102=)
c.188T= (p.Ile63=)
8g.27463661A>CCA370810723CHRNA2c.782T>G (p.Ile261Ser)
c.*612T>G (n.*612T>G)
c.737T>G (p.Ile246Ser)
n.290-1907T>G
c.716T>G (p.Ile239Ser)
n.512T>G
c.*184T>G (n.*184T>G)
c.305T>G (p.Ile102Ser)
c.188T>G (p.Ile63Ser)
 gnomAD v4
8g.27463661A>GCA370810722CHRNA2c.782T>C (p.Ile261Thr)
c.*612T>C (n.*612T>C)
c.737T>C (p.Ile246Thr)
n.290-1907T>C
c.716T>C (p.Ile239Thr)
n.512T>C
c.*184T>C (n.*184T>C)
c.305T>C (p.Ile102Thr)
c.188T>C (p.Ile63Thr)
 dbSNP gnomAD v2 gnomAD v4
8g.27463661A>TCA370810720CHRNA2c.782T>A (p.Ile261Asn)
c.*612T>A (n.*612T>A)
c.737T>A (p.Ile246Asn)
n.290-1907T>A
c.716T>A (p.Ile239Asn)
n.512T>A
c.*184T>A (n.*184T>A)
c.305T>A (p.Ile102Asn)
c.188T>A (p.Ile63Asn)
8g.27463662T>ACA370810725CHRNA2c.781A>T (p.Ile261Phe)
c.*611A>T (n.*611A>T)
c.736A>T (p.Ile246Phe)
n.290-1908A>T
c.715A>T (p.Ile239Phe)
n.511A>T
c.*183A>T (n.*183A>T)
c.304A>T (p.Ile102Phe)
c.187A>T (p.Ile63Phe)
8g.27463662T>CCA370810726CHRNA2c.781A>G (p.Ile261Val)
c.*611A>G (n.*611A>G)
c.736A>G (p.Ile246Val)
n.290-1908A>G
c.715A>G (p.Ile239Val)
n.511A>G
c.*183A>G (n.*183A>G)
c.304A>G (p.Ile102Val)
c.187A>G (p.Ile63Val)
 gnomAD v4
8g.27463662T>GCA370810728CHRNA2c.781A>C (p.Ile261Leu)
c.*611A>C (n.*611A>C)
c.736A>C (p.Ile246Leu)
n.290-1908A>C
c.715A>C (p.Ile239Leu)
n.511A>C
c.*183A>C (n.*183A>C)
c.304A>C (p.Ile102Leu)
c.187A>C (p.Ile63Leu)
8g.27463663G>ACA460186193CHRNA2c.780C>T (p.Val260=)
c.*610C>T (n.*610C>T)
c.735C>T (p.Val245=)
n.290-1909C>T
c.714C>T (p.Val238=)
n.510C>T
c.*182C>T (n.*182C>T)
c.303C>T (p.Val101=)
c.186C>T (p.Val62=)
 COSMIC
8g.27463663G>CCA460186194CHRNA2c.780C>G (p.Val260=)
c.*610C>G (n.*610C>G)
c.735C>G (p.Val245=)
n.290-1909C>G
c.714C>G (p.Val238=)
n.510C>G
c.*182C>G (n.*182C>G)
c.303C>G (p.Val101=)
c.186C>G (p.Val62=)
8g.27463663G>TCA460186195CHRNA2c.780C>A (p.Val260=)
c.*610C>A (n.*610C>A)
c.735C>A (p.Val245=)
n.290-1909C>A
c.714C>A (p.Val238=)
n.510C>A
c.*182C>A (n.*182C>A)
c.303C>A (p.Val101=)
c.186C>A (p.Val62=)
8g.27463664A>CCA370810729CHRNA2c.779T>G (p.Val260Gly)
c.*609T>G (n.*609T>G)
c.734T>G (p.Val245Gly)
n.290-1910T>G
c.713T>G (p.Val238Gly)
n.509T>G
c.*181T>G (n.*181T>G)
c.302T>G (p.Val101Gly)
c.185T>G (p.Val62Gly)
8g.27463664A>GCA370810730CHRNA2c.779T>C (p.Val260Ala)
c.*609T>C (n.*609T>C)
c.734T>C (p.Val245Ala)
n.290-1910T>C
c.713T>C (p.Val238Ala)
n.509T>C
c.*181T>C (n.*181T>C)
c.302T>C (p.Val101Ala)
c.185T>C (p.Val62Ala)
 gnomAD v4
8g.27463664A>TCA370810732CHRNA2c.779T>A (p.Val260Asp)
c.*609T>A (n.*609T>A)
c.734T>A (p.Val245Asp)
n.290-1910T>A
c.713T>A (p.Val238Asp)
n.509T>A
c.*181T>A (n.*181T>A)
c.302T>A (p.Val101Asp)
c.185T>A (p.Val62Asp)
8g.27463665C>ACA370810734CHRNA2c.778G>T (p.Val260Phe)
c.*608G>T (n.*608G>T)
c.733G>T (p.Val245Phe)
n.290-1911G>T
c.712G>T (p.Val238Phe)
n.508G>T
c.*180G>T (n.*180G>T)
c.301G>T (p.Val101Phe)
c.184G>T (p.Val62Phe)
8g.27463665C=CA1772814525CHRNA2c.778G= (p.Val260=)
c.*608G= (n.*608G=)
c.733G= (p.Val245=)
n.290-1911G=
c.712G= (p.Val238=)
n.508G=
c.*180G= (n.*180G=)
c.301G= (p.Val101=)
c.184G= (p.Val62=)
8g.27463665C>GCA370810737CHRNA2c.778G>C (p.Val260Leu)
c.*608G>C (n.*608G>C)
c.733G>C (p.Val245Leu)
n.290-1911G>C
c.712G>C (p.Val238Leu)
n.508G>C
c.*180G>C (n.*180G>C)
c.301G>C (p.Val101Leu)
c.184G>C (p.Val62Leu)
 gnomAD v4
8g.27463665C>TCA370810735CHRNA2c.778G>A (p.Val260Ile)
c.*608G>A (n.*608G>A)
c.733G>A (p.Val245Ile)
n.290-1911G>A
c.712G>A (p.Val238Ile)
n.508G>A
c.*180G>A (n.*180G>A)
c.301G>A (p.Val101Ile)
c.184G>A (p.Val62Ile)
 dbSNP gnomAD v4 COSMIC
8g.27463666G>ACA4689597CHRNA2c.777C>T (p.Phe259=)
c.*607C>T (n.*607C>T)
c.732C>T (p.Phe244=)
n.290-1912C>T
c.711C>T (p.Phe237=)
n.507C>T
c.*179C>T (n.*179C>T)
c.300C>T (p.Phe100=)
c.183C>T (p.Phe61=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.27463666G>CCA370810739CHRNA2c.777C>G (p.Phe259Leu)
c.*607C>G (n.*607C>G)
c.732C>G (p.Phe244Leu)
n.290-1912C>G
c.711C>G (p.Phe237Leu)
n.507C>G
c.*179C>G (n.*179C>G)
c.300C>G (p.Phe100Leu)
c.183C>G (p.Phe61Leu)
8g.27463666G=CA1772814529CHRNA2c.777C= (p.Phe259=)
c.*607C= (n.*607C=)
c.732C= (p.Phe244=)
n.290-1912C=
c.711C= (p.Phe237=)
n.507C=
c.*179C= (n.*179C=)
c.300C= (p.Phe100=)
c.183C= (p.Phe61=)
8g.27463666G>TCA370810740CHRNA2c.777C>A (p.Phe259Leu)
c.*607C>A (n.*607C>A)
c.732C>A (p.Phe244Leu)
n.290-1912C>A
c.711C>A (p.Phe237Leu)
n.507C>A
c.*179C>A (n.*179C>A)
c.300C>A (p.Phe100Leu)
c.183C>A (p.Phe61Leu)
 dbSNP gnomAD v3 gnomAD v4
8g.27463667A>CCA370810743CHRNA2c.776T>G (p.Phe259Cys)
c.*606T>G (n.*606T>G)
c.731T>G (p.Phe244Cys)
n.290-1913T>G
c.710T>G (p.Phe237Cys)
n.506T>G
c.*178T>G (n.*178T>G)
c.299T>G (p.Phe100Cys)
c.182T>G (p.Phe61Cys)
8g.27463667A>GCA370810744CHRNA2c.776T>C (p.Phe259Ser)
c.*606T>C (n.*606T>C)
c.731T>C (p.Phe244Ser)
n.290-1913T>C
c.710T>C (p.Phe237Ser)
n.506T>C
c.*178T>C (n.*178T>C)
c.299T>C (p.Phe100Ser)
c.182T>C (p.Phe61Ser)
8g.27463667A>TCA370810745CHRNA2c.776T>A (p.Phe259Tyr)
c.*606T>A (n.*606T>A)
c.731T>A (p.Phe244Tyr)
n.290-1913T>A
c.710T>A (p.Phe237Tyr)
n.506T>A
c.*178T>A (n.*178T>A)
c.299T>A (p.Phe100Tyr)
c.182T>A (p.Phe61Tyr)
8g.27463668A>CCA370810748CHRNA2c.775T>G (p.Phe259Val)
c.*605T>G (n.*605T>G)
c.730T>G (p.Phe244Val)
n.290-1914T>G
c.709T>G (p.Phe237Val)
n.505T>G
c.*177T>G (n.*177T>G)
c.298T>G (p.Phe100Val)
c.181T>G (p.Phe61Val)
8g.27463668A>GCA370810750CHRNA2c.775T>C (p.Phe259Leu)
c.*605T>C (n.*605T>C)
c.730T>C (p.Phe244Leu)
n.290-1914T>C
c.709T>C (p.Phe237Leu)
n.505T>C
c.*177T>C (n.*177T>C)
c.298T>C (p.Phe100Leu)
c.181T>C (p.Phe61Leu)
8g.27463668A>TCA370810751CHRNA2c.775T>A (p.Phe259Ile)
c.*605T>A (n.*605T>A)
c.730T>A (p.Phe244Ile)
n.290-1914T>A
c.709T>A (p.Phe237Ile)
n.505T>A
c.*177T>A (n.*177T>A)
c.298T>A (p.Phe100Ile)
c.181T>A (p.Phe61Ile)
8g.27463669G>ACA460186208CHRNA2c.774C>T (p.Ala258=)
c.*604C>T (n.*604C>T)
c.729C>T (p.Ala243=)
n.290-1915C>T
c.708C>T (p.Ala236=)
n.504C>T
c.*176C>T (n.*176C>T)
c.297C>T (p.Ala99=)
c.180C>T (p.Ala60=)
8g.27463669G>CCA460186209CHRNA2c.774C>G (p.Ala258=)
c.*604C>G (n.*604C>G)
c.729C>G (p.Ala243=)
n.290-1915C>G
c.708C>G (p.Ala236=)
n.504C>G
c.*176C>G (n.*176C>G)
c.297C>G (p.Ala99=)
c.180C>G (p.Ala60=)
8g.27463669G>TCA460186211CHRNA2c.774C>A (p.Ala258=)
c.*604C>A (n.*604C>A)
c.729C>A (p.Ala243=)
n.290-1915C>A
c.708C>A (p.Ala236=)
n.504C>A
c.*176C>A (n.*176C>A)
c.297C>A (p.Ala99=)
c.180C>A (p.Ala60=)
8g.27463670G>ACA370810753CHRNA2c.773C>T (p.Ala258Val)
c.*603C>T (n.*603C>T)
c.728C>T (p.Ala243Val)
n.290-1916C>T
c.707C>T (p.Ala236Val)
n.503C>T
c.*175C>T (n.*175C>T)
c.296C>T (p.Ala99Val)
c.179C>T (p.Ala60Val)
8g.27463670G>CCA370810754CHRNA2c.773C>G (p.Ala258Gly)
c.*603C>G (n.*603C>G)
c.728C>G (p.Ala243Gly)
n.290-1916C>G
c.707C>G (p.Ala236Gly)
n.503C>G
c.*175C>G (n.*175C>G)
c.296C>G (p.Ala99Gly)
c.179C>G (p.Ala60Gly)
8g.27463670G>TCA370810756CHRNA2c.773C>A (p.Ala258Asp)
c.*603C>A (n.*603C>A)
c.728C>A (p.Ala243Asp)
n.290-1916C>A
c.707C>A (p.Ala236Asp)
n.503C>A
c.*175C>A (n.*175C>A)
c.296C>A (p.Ala99Asp)
c.179C>A (p.Ala60Asp)
8g.27463671C>ACA370810758CHRNA2c.772G>T (p.Ala258Ser)
c.*602G>T (n.*602G>T)
c.727G>T (p.Ala243Ser)
n.290-1917G>T
c.706G>T (p.Ala236Ser)
n.502G>T
c.*174G>T (n.*174G>T)
c.295G>T (p.Ala99Ser)
c.178G>T (p.Ala60Ser)
 dbSNP gnomAD v2 gnomAD v4
8g.27463671C=CA1772814533CHRNA2c.772G= (p.Ala258=)
c.*602G= (n.*602G=)
c.727G= (p.Ala243=)
n.290-1917G=
c.706G= (p.Ala236=)
n.502G=
c.*174G= (n.*174G=)
c.295G= (p.Ala99=)
c.178G= (p.Ala60=)
8g.27463671C>GCA370810761CHRNA2c.772G>C (p.Ala258Pro)
c.*602G>C (n.*602G>C)
c.727G>C (p.Ala243Pro)
n.290-1917G>C
c.706G>C (p.Ala236Pro)
n.502G>C
c.*174G>C (n.*174G>C)
c.295G>C (p.Ala99Pro)
c.178G>C (p.Ala60Pro)
8g.27463671C>TCA4689598CHRNA2c.772G>A (p.Ala258Thr)
c.*602G>A (n.*602G>A)
c.727G>A (p.Ala243Thr)
n.290-1917G>A
c.706G>A (p.Ala236Thr)
n.502G>A
c.*174G>A (n.*174G>A)
c.295G>A (p.Ala99Thr)
c.178G>A (p.Ala60Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.27463672G>ACA152381CHRNA2c.771C>T (p.Tyr257=)
c.*601C>T (n.*601C>T)
c.726C>T (p.Tyr242=)
n.290-1918C>T
c.705C>T (p.Tyr235=)
n.501C>T
c.*173C>T (n.*173C>T)
c.294C>T (p.Tyr98=)
c.177C>T (p.Tyr59=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.27463672G>CCA370810764CHRNA2c.771C>G (p.Tyr257Ter)
c.*601C>G (n.*601C>G)
c.726C>G (p.Tyr242Ter)
n.290-1918C>G
c.705C>G (p.Tyr235Ter)
n.501C>G
c.*173C>G (n.*173C>G)
c.294C>G (p.Tyr98Ter)
c.177C>G (p.Tyr59Ter)
 gnomAD v4
8g.27463672G=CA1772814540CHRNA2c.771C= (p.Tyr257=)
c.*601C= (n.*601C=)
c.726C= (p.Tyr242=)
n.290-1918C=
c.705C= (p.Tyr235=)
n.501C=
c.*173C= (n.*173C=)
c.294C= (p.Tyr98=)
c.177C= (p.Tyr59=)
8g.27463672G>TCA370810766CHRNA2c.771C>A (p.Tyr257Ter)
c.*601C>A (n.*601C>A)
c.726C>A (p.Tyr242Ter)
n.290-1918C>A
c.705C>A (p.Tyr235Ter)
n.501C>A
c.*173C>A (n.*173C>A)
c.294C>A (p.Tyr98Ter)
c.177C>A (p.Tyr59Ter)
 gnomAD v4
8g.27463673T>ACA370810767CHRNA2c.770A>T (p.Tyr257Phe)
c.*600A>T (n.*600A>T)
c.725A>T (p.Tyr242Phe)
n.290-1919A>T
c.704A>T (p.Tyr235Phe)
n.500A>T
c.*172A>T (n.*172A>T)
c.293A>T (p.Tyr98Phe)
c.176A>T (p.Tyr59Phe)
8g.27463673T>CCA370810769CHRNA2c.770A>G (p.Tyr257Cys)
c.*600A>G (n.*600A>G)
c.725A>G (p.Tyr242Cys)
n.290-1919A>G
c.704A>G (p.Tyr235Cys)
n.500A>G
c.*172A>G (n.*172A>G)
c.293A>G (p.Tyr98Cys)
c.176A>G (p.Tyr59Cys)
8g.27463673T>GCA370810771CHRNA2c.770A>C (p.Tyr257Ser)
c.*600A>C (n.*600A>C)
c.725A>C (p.Tyr242Ser)
n.290-1919A>C
c.704A>C (p.Tyr235Ser)
n.500A>C
c.*172A>C (n.*172A>C)
c.293A>C (p.Tyr98Ser)
c.176A>C (p.Tyr59Ser)
8g.27463674A=CA1772814545CHRNA2c.769T= (p.Tyr257=)
c.*599T= (n.*599T=)
c.724T= (p.Tyr242=)
n.290-1920T=
c.703T= (p.Tyr235=)
n.499T=
c.*171T= (n.*171T=)
c.292T= (p.Tyr98=)
c.175T= (p.Tyr59=)
8g.27463674A>CCA370810777CHRNA2c.769T>G (p.Tyr257Asp)
c.*599T>G (n.*599T>G)
c.724T>G (p.Tyr242Asp)
n.290-1920T>G
c.703T>G (p.Tyr235Asp)
n.499T>G
c.*171T>G (n.*171T>G)
c.292T>G (p.Tyr98Asp)
c.175T>G (p.Tyr59Asp)
8g.27463674A>GCA370810775CHRNA2c.769T>C (p.Tyr257His)
c.*599T>C (n.*599T>C)
c.724T>C (p.Tyr242His)
n.290-1920T>C
c.703T>C (p.Tyr235His)
n.499T>C
c.*171T>C (n.*171T>C)
c.292T>C (p.Tyr98His)
c.175T>C (p.Tyr59His)
 dbSNP gnomAD v3 gnomAD v4
8g.27463674A>TCA370810773CHRNA2c.769T>A (p.Tyr257Asn)
c.*599T>A (n.*599T>A)
c.724T>A (p.Tyr242Asn)
n.290-1920T>A
c.703T>A (p.Tyr235Asn)
n.499T>A
c.*171T>A (n.*171T>A)
c.292T>A (p.Tyr98Asn)
c.175T>A (p.Tyr59Asn)
 dbSNP gnomAD v3 gnomAD v4
8g.27463675G>ACA460186220CHRNA2c.768C>T (p.Thr256=)
c.*598C>T (n.*598C>T)
c.723C>T (p.Thr241=)
n.290-1921C>T
c.702C>T (p.Thr234=)
n.498C>T
c.*170C>T (n.*170C>T)
c.291C>T (p.Thr97=)
c.174C>T (p.Thr58=)
8g.27463675G>CCA460186219CHRNA2c.768C>G (p.Thr256=)
c.*598C>G (n.*598C>G)
c.723C>G (p.Thr241=)
n.290-1921C>G
c.702C>G (p.Thr234=)
n.498C>G
c.*170C>G (n.*170C>G)
c.291C>G (p.Thr97=)
c.174C>G (p.Thr58=)
8g.27463675G>TCA460186218CHRNA2c.768C>A (p.Thr256=)
c.*598C>A (n.*598C>A)
c.723C>A (p.Thr241=)
n.290-1921C>A
c.702C>A (p.Thr234=)
n.498C>A
c.*170C>A (n.*170C>A)
c.291C>A (p.Thr97=)
c.174C>A (p.Thr58=)
8g.27463676G>ACA370810778CHRNA2c.767C>T (p.Thr256Ile)
c.*597C>T (n.*597C>T)
c.722C>T (p.Thr241Ile)
n.290-1922C>T
c.701C>T (p.Thr234Ile)
n.497C>T
c.*169C>T (n.*169C>T)
c.290C>T (p.Thr97Ile)
c.173C>T (p.Thr58Ile)
 ClinVar dbSNP
8g.27463676G>CCA370810780CHRNA2c.767C>G (p.Thr256Ser)
c.*597C>G (n.*597C>G)
c.722C>G (p.Thr241Ser)
n.290-1922C>G
c.701C>G (p.Thr234Ser)
n.497C>G
c.*169C>G (n.*169C>G)
c.290C>G (p.Thr97Ser)
c.173C>G (p.Thr58Ser)
8g.27463676G=CA1772814549CHRNA2c.767C= (p.Thr256=)
c.*597C= (n.*597C=)
c.722C= (p.Thr241=)
n.290-1922C=
c.701C= (p.Thr234=)
n.497C=
c.*169C= (n.*169C=)
c.290C= (p.Thr97=)
c.173C= (p.Thr58=)
8g.27463676G>TCA370810782CHRNA2c.767C>A (p.Thr256Asn)
c.*597C>A (n.*597C>A)
c.722C>A (p.Thr241Asn)
n.290-1922C>A
c.701C>A (p.Thr234Asn)
n.497C>A
c.*169C>A (n.*169C>A)
c.290C>A (p.Thr97Asn)
c.173C>A (p.Thr58Asn)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.27463677T>ACA370810784CHRNA2c.766A>T (p.Thr256Ser)
c.*596A>T (n.*596A>T)
c.721A>T (p.Thr241Ser)
n.290-1923A>T
c.700A>T (p.Thr234Ser)
n.496A>T
c.*168A>T (n.*168A>T)
c.289A>T (p.Thr97Ser)
c.172A>T (p.Thr58Ser)
8g.27463677T>CCA370810785CHRNA2c.766A>G (p.Thr256Ala)
c.*596A>G (n.*596A>G)
c.721A>G (p.Thr241Ala)
n.290-1923A>G
c.700A>G (p.Thr234Ala)
n.496A>G
c.*168A>G (n.*168A>G)
c.289A>G (p.Thr97Ala)
c.172A>G (p.Thr58Ala)
8g.27463677T>GCA370810787CHRNA2c.766A>C (p.Thr256Pro)
c.*596A>C (n.*596A>C)
c.721A>C (p.Thr241Pro)
n.290-1923A>C
c.700A>C (p.Thr234Pro)
n.496A>C
c.*168A>C (n.*168A>C)
c.289A>C (p.Thr97Pro)
c.172A>C (p.Thr58Pro)
8g.27463678G>ACA460186228CHRNA2c.765C>T (p.Val255=)
c.*595C>T (n.*595C>T)
c.720C>T (p.Val240=)
n.290-1924C>T
c.699C>T (p.Val233=)
n.495C>T
c.*167C>T (n.*167C>T)
c.288C>T (p.Val96=)
c.171C>T (p.Val57=)
 dbSNP gnomAD v4
8g.27463678G>CCA460186238CHRNA2c.765C>G (p.Val255=)
c.*595C>G (n.*595C>G)
c.720C>G (p.Val240=)
n.290-1924C>G
c.699C>G (p.Val233=)
n.495C>G
c.*167C>G (n.*167C>G)
c.288C>G (p.Val96=)
c.171C>G (p.Val57=)
8g.27463678G=CA1772814555CHRNA2c.765C= (p.Val255=)
c.*595C= (n.*595C=)
c.720C= (p.Val240=)
n.290-1924C=
c.699C= (p.Val233=)
n.495C=
c.*167C= (n.*167C=)
c.288C= (p.Val96=)
c.171C= (p.Val57=)
8g.27463678G>TCA460186236CHRNA2c.765C>A (p.Val255=)
c.*595C>A (n.*595C>A)
c.720C>A (p.Val240=)
n.290-1924C>A
c.699C>A (p.Val233=)
n.495C>A
c.*167C>A (n.*167C>A)
c.288C>A (p.Val96=)
c.171C>A (p.Val57=)
8g.27463679A>CCA370810791CHRNA2c.764T>G (p.Val255Gly)
c.*594T>G (n.*594T>G)
c.719T>G (p.Val240Gly)
n.290-1925T>G
c.698T>G (p.Val233Gly)
n.494T>G
c.*166T>G (n.*166T>G)
c.287T>G (p.Val96Gly)
c.170T>G (p.Val57Gly)
8g.27463679A>GCA370810789CHRNA2c.764T>C (p.Val255Ala)
c.*594T>C (n.*594T>C)
c.719T>C (p.Val240Ala)
n.290-1925T>C
c.698T>C (p.Val233Ala)
n.494T>C
c.*166T>C (n.*166T>C)
c.287T>C (p.Val96Ala)
c.170T>C (p.Val57Ala)
8g.27463679A>TCA370810790CHRNA2c.764T>A (p.Val255Asp)
c.*594T>A (n.*594T>A)
c.719T>A (p.Val240Asp)
n.290-1925T>A
c.698T>A (p.Val233Asp)
n.494T>A
c.*166T>A (n.*166T>A)
c.287T>A (p.Val96Asp)
c.170T>A (p.Val57Asp)
8g.27463680delCA2573142640CHRNA2c.763del (p.Val255SerfsTer?)
c.*593del (n.*593del)
c.718del (p.Val240SerfsTer?)
n.290-1926del
c.697del (p.Val233SerfsTer?)
n.493del
c.*165del (n.*165del)
c.286del (p.Val96SerfsTer?)
c.169del (p.Val57SerfsTer?)
 ClinVar dbSNP
8g.27463680C>ACA370810794CHRNA2c.763G>T (p.Val255Phe)
c.*593G>T (n.*593G>T)
c.718G>T (p.Val240Phe)
n.290-1926G>T
c.697G>T (p.Val233Phe)
n.493G>T
c.*165G>T (n.*165G>T)
c.286G>T (p.Val96Phe)
c.169G>T (p.Val57Phe)
 dbSNP gnomAD v4 COSMIC
8g.27463680C=CA1772814558CHRNA2c.763G= (p.Val255=)
c.*593G= (n.*593G=)
c.718G= (p.Val240=)
n.290-1926G=
c.697G= (p.Val233=)
n.493G=
c.*165G= (n.*165G=)
c.286G= (p.Val96=)
c.169G= (p.Val57=)
8g.27463680C>GCA370810799CHRNA2c.763G>C (p.Val255Leu)
c.*593G>C (n.*593G>C)
c.718G>C (p.Val240Leu)
n.290-1926G>C
c.697G>C (p.Val233Leu)
n.493G>C
c.*165G>C (n.*165G>C)
c.286G>C (p.Val96Leu)
c.169G>C (p.Val57Leu)
8g.27463680C>TCA4689599CHRNA2c.763G>A (p.Val255Ile)
c.*593G>A (n.*593G>A)
c.718G>A (p.Val240Ile)
n.290-1926G>A
c.697G>A (p.Val233Ile)
n.493G>A
c.*165G>A (n.*165G>A)
c.286G>A (p.Val96Ile)
c.169G>A (p.Val57Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.27463682_27463684delCA2579127525CHRNA2c.761_763del (p.Asp254del)
c.*591_*593del (n.*591_*593del)
c.716_718del (p.Asp239del)
n.290-1928_290-1926del
c.695_697del (p.Asp232del)
n.491_493del
c.*163_*165del (n.*163_*165del)
c.284_286del (p.Asp95del)
c.167_169del (p.Asp56del)
 gnomAD v4
8g.27463681G>ACA4689600CHRNA2c.762C>T (p.Asp254=)
c.*592C>T (n.*592C>T)
c.717C>T (p.Asp239=)
n.290-1927C>T
c.696C>T (p.Asp232=)
n.492C>T
c.*164C>T (n.*164C>T)
c.285C>T (p.Asp95=)
c.168C>T (p.Asp56=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.27463681G>CCA370810805CHRNA2c.762C>G (p.Asp254Glu)
c.*592C>G (n.*592C>G)
c.717C>G (p.Asp239Glu)
n.290-1927C>G
c.696C>G (p.Asp232Glu)
n.492C>G
c.*164C>G (n.*164C>G)
c.285C>G (p.Asp95Glu)
c.168C>G (p.Asp56Glu)
 gnomAD v4
8g.27463681G=CA1772814560CHRNA2c.762C= (p.Asp254=)
c.*592C= (n.*592C=)
c.717C= (p.Asp239=)
n.290-1927C=
c.696C= (p.Asp232=)
n.492C=
c.*164C= (n.*164C=)
c.285C= (p.Asp95=)
c.168C= (p.Asp56=)
8g.27463681G>TCA370810807CHRNA2c.762C>A (p.Asp254Glu)
c.*592C>A (n.*592C>A)
c.717C>A (p.Asp239Glu)
n.290-1927C>A
c.696C>A (p.Asp232Glu)
n.492C>A
c.*164C>A (n.*164C>A)
c.285C>A (p.Asp95Glu)
c.168C>A (p.Asp56Glu)
8g.27463682T>ACA370810810CHRNA2c.761A>T (p.Asp254Val)
c.*591A>T (n.*591A>T)
c.716A>T (p.Asp239Val)
n.290-1928A>T
c.695A>T (p.Asp232Val)
n.491A>T
c.*163A>T (n.*163A>T)
c.284A>T (p.Asp95Val)
c.167A>T (p.Asp56Val)
8g.27463682T>CCA370810812CHRNA2c.761A>G (p.Asp254Gly)
c.*591A>G (n.*591A>G)
c.716A>G (p.Asp239Gly)
n.290-1928A>G
c.695A>G (p.Asp232Gly)
n.491A>G
c.*163A>G (n.*163A>G)
c.284A>G (p.Asp95Gly)
c.167A>G (p.Asp56Gly)
8g.27463682T>GCA370810813CHRNA2c.761A>C (p.Asp254Ala)
c.*591A>C (n.*591A>C)
c.716A>C (p.Asp239Ala)
n.290-1928A>C
c.695A>C (p.Asp232Ala)
n.491A>C
c.*163A>C (n.*163A>C)
c.284A>C (p.Asp95Ala)
c.167A>C (p.Asp56Ala)
8g.27463683C>ACA370810814CHRNA2c.760G>T (p.Asp254Tyr)
c.*590G>T (n.*590G>T)
c.715G>T (p.Asp239Tyr)
n.290-1929G>T
c.694G>T (p.Asp232Tyr)
n.490G>T
c.*162G>T (n.*162G>T)
c.283G>T (p.Asp95Tyr)
c.166G>T (p.Asp56Tyr)
8g.27463683C=CA1772814561CHRNA2c.760G= (p.Asp254=)
c.*590G= (n.*590G=)
c.715G= (p.Asp239=)
n.290-1929G=
c.694G= (p.Asp232=)
n.490G=
c.*162G= (n.*162G=)
c.283G= (p.Asp95=)
c.166G= (p.Asp56=)
8g.27463683C>GCA370810815CHRNA2c.760G>C (p.Asp254His)
c.*590G>C (n.*590G>C)
c.715G>C (p.Asp239His)
n.290-1929G>C
c.694G>C (p.Asp232His)
n.490G>C
c.*162G>C (n.*162G>C)
c.283G>C (p.Asp95His)
c.166G>C (p.Asp56His)
8g.27463683C>TCA174242363CHRNA2c.760G>A (p.Asp254Asn)
c.*590G>A (n.*590G>A)
c.715G>A (p.Asp239Asn)
n.290-1929G>A
c.694G>A (p.Asp232Asn)
n.490G>A
c.*162G>A (n.*162G>A)
c.283G>A (p.Asp95Asn)
c.166G>A (p.Asp56Asn)
 dbSNP gnomAD v4
8g.27463684G>ACA4689601CHRNA2c.759C>T (p.Pro253=)
c.*589C>T (n.*589C>T)
c.714C>T (p.Pro238=)
n.290-1930C>T
c.693C>T (p.Pro231=)
n.489C>T
c.*161C>T (n.*161C>T)
c.282C>T (p.Pro94=)
c.165C>T (p.Pro55=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.27463684G>CCA460186260CHRNA2c.759C>G (p.Pro253=)
c.*589C>G (n.*589C>G)
c.714C>G (p.Pro238=)
n.290-1930C>G
c.693C>G (p.Pro231=)
n.489C>G
c.*161C>G (n.*161C>G)
c.282C>G (p.Pro94=)
c.165C>G (p.Pro55=)
8g.27463684G=CA1772814562CHRNA2c.759C= (p.Pro253=)
c.*589C= (n.*589C=)
c.714C= (p.Pro238=)
n.290-1930C=
c.693C= (p.Pro231=)
n.489C=
c.*161C= (n.*161C=)
c.282C= (p.Pro94=)
c.165C= (p.Pro55=)
8g.27463684G>TCA460186263CHRNA2c.759C>A (p.Pro253=)
c.*589C>A (n.*589C>A)
c.714C>A (p.Pro238=)
n.290-1930C>A
c.693C>A (p.Pro231=)
n.489C>A
c.*161C>A (n.*161C>A)
c.282C>A (p.Pro94=)
c.165C>A (p.Pro55=)
 COSMIC
8g.27463685G>ACA370810818CHRNA2c.758C>T (p.Pro253Leu)
c.*588C>T (n.*588C>T)
c.713C>T (p.Pro238Leu)
n.290-1931C>T
c.692C>T (p.Pro231Leu)
n.488C>T
c.*160C>T (n.*160C>T)
c.281C>T (p.Pro94Leu)
c.164C>T (p.Pro55Leu)
 dbSNP gnomAD v3 gnomAD v4
8g.27463685G>CCA370810816CHRNA2c.758C>G (p.Pro253Arg)
c.*588C>G (n.*588C>G)
c.713C>G (p.Pro238Arg)
n.290-1931C>G
c.692C>G (p.Pro231Arg)
n.488C>G
c.*160C>G (n.*160C>G)
c.281C>G (p.Pro94Arg)
c.164C>G (p.Pro55Arg)
8g.27463685G=CA1772814563CHRNA2c.758C= (p.Pro253=)
c.*588C= (n.*588C=)
c.713C= (p.Pro238=)
n.290-1931C=
c.692C= (p.Pro231=)
n.488C=
c.*160C= (n.*160C=)
c.281C= (p.Pro94=)
c.164C= (p.Pro55=)
8g.27463685G>TCA370810817CHRNA2c.758C>A (p.Pro253His)
c.*588C>A (n.*588C>A)
c.713C>A (p.Pro238His)
n.290-1931C>A
c.692C>A (p.Pro231His)
n.488C>A
c.*160C>A (n.*160C>A)
c.281C>A (p.Pro94His)
c.164C>A (p.Pro55His)
8g.27463686G>ACA370810819CHRNA2c.757C>T (p.Pro253Ser)
c.*587C>T (n.*587C>T)
c.712C>T (p.Pro238Ser)
n.290-1932C>T
c.691C>T (p.Pro231Ser)
n.487C>T
c.*159C>T (n.*159C>T)
c.280C>T (p.Pro94Ser)
c.163C>T (p.Pro55Ser)
 COSMIC
8g.27463686G>CCA370810820CHRNA2c.757C>G (p.Pro253Ala)
c.*587C>G (n.*587C>G)
c.712C>G (p.Pro238Ala)
n.290-1932C>G
c.691C>G (p.Pro231Ala)
n.487C>G
c.*159C>G (n.*159C>G)
c.280C>G (p.Pro94Ala)
c.163C>G (p.Pro55Ala)
8g.27463686G=CA1772814564CHRNA2c.757C= (p.Pro253=)
c.*587C= (n.*587C=)
c.712C= (p.Pro238=)
n.290-1932C=
c.691C= (p.Pro231=)
n.487C=
c.*159C= (n.*159C=)
c.280C= (p.Pro94=)
c.163C= (p.Pro55=)
8g.27463686G>TCA370810821CHRNA2c.757C>A (p.Pro253Thr)
c.*587C>A (n.*587C>A)
c.712C>A (p.Pro238Thr)
n.290-1932C>A
c.691C>A (p.Pro231Thr)
n.487C>A
c.*159C>A (n.*159C>A)
c.280C>A (p.Pro94Thr)
c.163C>A (p.Pro55Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.27463687G>ACA460186266CHRNA2c.756C>T (p.Tyr252=)
c.*586C>T (n.*586C>T)
c.711C>T (p.Tyr237=)
n.290-1933C>T
c.690C>T (p.Tyr230=)
n.486C>T
c.*158C>T (n.*158C>T)
c.279C>T (p.Tyr93=)
c.162C>T (p.Tyr54=)
 dbSNP gnomAD v2 gnomAD v4
8g.27463687G>CCA370810822CHRNA2c.756C>G (p.Tyr252Ter)
c.*586C>G (n.*586C>G)
c.711C>G (p.Tyr237Ter)
n.290-1933C>G
c.690C>G (p.Tyr230Ter)
n.486C>G
c.*158C>G (n.*158C>G)
c.279C>G (p.Tyr93Ter)
c.162C>G (p.Tyr54Ter)
8g.27463687G=CA1772814565CHRNA2c.756C= (p.Tyr252=)
c.*586C= (n.*586C=)
c.711C= (p.Tyr237=)
n.290-1933C=
c.690C= (p.Tyr230=)
n.486C=
c.*158C= (n.*158C=)
c.279C= (p.Tyr93=)
c.162C= (p.Tyr54=)
8g.27463687G>TCA370810823CHRNA2c.756C>A (p.Tyr252Ter)
c.*586C>A (n.*586C>A)
c.711C>A (p.Tyr237Ter)
n.290-1933C>A
c.690C>A (p.Tyr230Ter)
n.486C>A
c.*158C>A (n.*158C>A)
c.279C>A (p.Tyr93Ter)
c.162C>A (p.Tyr54Ter)
8g.27463688T>ACA370810824CHRNA2c.755A>T (p.Tyr252Phe)
c.*585A>T (n.*585A>T)
c.710A>T (p.Tyr237Phe)
n.290-1934A>T
c.689A>T (p.Tyr230Phe)
n.485A>T
c.*157A>T (n.*157A>T)
c.278A>T (p.Tyr93Phe)
c.161A>T (p.Tyr54Phe)
8g.27463688T>CCA370810825CHRNA2c.755A>G (p.Tyr252Cys)
c.*585A>G (n.*585A>G)
c.710A>G (p.Tyr237Cys)
n.290-1934A>G
c.689A>G (p.Tyr230Cys)
n.485A>G
c.*157A>G (n.*157A>G)
c.278A>G (p.Tyr93Cys)
c.161A>G (p.Tyr54Cys)
8g.27463688T>GCA370810826CHRNA2c.755A>C (p.Tyr252Ser)
c.*585A>C (n.*585A>C)
c.710A>C (p.Tyr237Ser)
n.290-1934A>C
c.689A>C (p.Tyr230Ser)
n.485A>C
c.*157A>C (n.*157A>C)
c.278A>C (p.Tyr93Ser)
c.161A>C (p.Tyr54Ser)
 dbSNP
8g.27463688T=CA1772814566CHRNA2c.755A= (p.Tyr252=)
c.*585A= (n.*585A=)
c.710A= (p.Tyr237=)
n.290-1934A=
c.689A= (p.Tyr230=)
n.485A=
c.*157A= (n.*157A=)
c.278A= (p.Tyr93=)
c.161A= (p.Tyr54=)
8g.27463689A=CA1772814567CHRNA2c.754T= (p.Tyr252=)
c.*584T= (n.*584T=)
c.709T= (p.Tyr237=)
n.290-1935T=
c.688T= (p.Tyr230=)
n.484T=
c.*156T= (n.*156T=)
c.277T= (p.Tyr93=)
c.160T= (p.Tyr54=)
8g.27463689A>CCA370810827CHRNA2c.754T>G (p.Tyr252Asp)
c.*584T>G (n.*584T>G)
c.709T>G (p.Tyr237Asp)
n.290-1935T>G
c.688T>G (p.Tyr230Asp)
n.484T>G
c.*156T>G (n.*156T>G)
c.277T>G (p.Tyr93Asp)
c.160T>G (p.Tyr54Asp)
8g.27463689A>GCA370810828CHRNA2c.754T>C (p.Tyr252His)
c.*584T>C (n.*584T>C)
c.709T>C (p.Tyr237His)
n.290-1935T>C
c.688T>C (p.Tyr230His)
n.484T>C
c.*156T>C (n.*156T>C)
c.277T>C (p.Tyr93His)
c.160T>C (p.Tyr54His)
8g.27463689A>TCA174242392CHRNA2c.754T>A (p.Tyr252Asn)
c.*584T>A (n.*584T>A)
c.709T>A (p.Tyr237Asn)
n.290-1935T>A
c.688T>A (p.Tyr230Asn)
n.484T>A
c.*156T>A (n.*156T>A)
c.277T>A (p.Tyr93Asn)
c.160T>A (p.Tyr54Asn)
 dbSNP gnomAD v3 gnomAD v4
8g.27463690G>ACA460186277CHRNA2c.753C>T (p.Ile251=)
c.*583C>T (n.*583C>T)
c.708C>T (p.Ile236=)
n.290-1936C>T
c.687C>T (p.Ile229=)
n.483C>T
c.*155C>T (n.*155C>T)
c.276C>T (p.Ile92=)
c.159C>T (p.Ile53=)
8g.27463690G>CCA370810829CHRNA2c.753C>G (p.Ile251Met)
c.*583C>G (n.*583C>G)
c.708C>G (p.Ile236Met)
n.290-1936C>G
c.687C>G (p.Ile229Met)
n.483C>G
c.*155C>G (n.*155C>G)
c.276C>G (p.Ile92Met)
c.159C>G (p.Ile53Met)
8g.27463690G>TCA460186282CHRNA2c.753C>A (p.Ile251=)
c.*583C>A (n.*583C>A)
c.708C>A (p.Ile236=)
n.290-1936C>A
c.687C>A (p.Ile229=)
n.483C>A
c.*155C>A (n.*155C>A)
c.276C>A (p.Ile92=)
c.159C>A (p.Ile53=)
 gnomAD v4
8g.27463691A=CA1772814569CHRNA2c.752T= (p.Ile251=)
c.*582T= (n.*582T=)
c.707T= (p.Ile236=)
n.290-1937T=
c.686T= (p.Ile229=)
n.482T=
c.*154T= (n.*154T=)
c.275T= (p.Ile92=)
c.158T= (p.Ile53=)
8g.27463691A>CCA370810830CHRNA2c.752T>G (p.Ile251Ser)
c.*582T>G (n.*582T>G)
c.707T>G (p.Ile236Ser)
n.290-1937T>G
c.686T>G (p.Ile229Ser)
n.482T>G
c.*154T>G (n.*154T>G)
c.275T>G (p.Ile92Ser)
c.158T>G (p.Ile53Ser)
8g.27463691A>GCA370810831CHRNA2c.752T>C (p.Ile251Thr)
c.*582T>C (n.*582T>C)
c.707T>C (p.Ile236Thr)
n.290-1937T>C
c.686T>C (p.Ile229Thr)
n.482T>C
c.*154T>C (n.*154T>C)
c.275T>C (p.Ile92Thr)
c.158T>C (p.Ile53Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.27463691A>TCA370810832CHRNA2c.752T>A (p.Ile251Asn)
c.*582T>A (n.*582T>A)
c.707T>A (p.Ile236Asn)
n.290-1937T>A
c.686T>A (p.Ile229Asn)
n.482T>A
c.*154T>A (n.*154T>A)
c.275T>A (p.Ile92Asn)
c.158T>A (p.Ile53Asn)
8g.27463692T>ACA370810833CHRNA2c.751A>T (p.Ile251Phe)
c.*581A>T (n.*581A>T)
c.706A>T (p.Ile236Phe)
n.290-1938A>T
c.685A>T (p.Ile229Phe)
n.481A>T
c.*153A>T (n.*153A>T)
c.274A>T (p.Ile92Phe)
c.157A>T (p.Ile53Phe)
8g.27463692T>CCA370810835CHRNA2c.751A>G (p.Ile251Val)
c.*581A>G (n.*581A>G)
c.706A>G (p.Ile236Val)
n.290-1938A>G
c.685A>G (p.Ile229Val)
n.481A>G
c.*153A>G (n.*153A>G)
c.274A>G (p.Ile92Val)
c.157A>G (p.Ile53Val)
8g.27463692T>GCA370810834CHRNA2c.751A>C (p.Ile251Leu)
c.*581A>C (n.*581A>C)
c.706A>C (p.Ile236Leu)
n.290-1938A>C
c.685A>C (p.Ile229Leu)
n.481A>C
c.*153A>C (n.*153A>C)
c.274A>C (p.Ile92Leu)
c.157A>C (p.Ile53Leu)
8g.27463693C>ACA370810836CHRNA2c.750G>T (p.Glu250Asp)
c.*580G>T (n.*580G>T)
c.705G>T (p.Glu235Asp)
n.290-1939G>T
c.684G>T (p.Glu228Asp)
n.480G>T
c.*152G>T (n.*152G>T)
c.273G>T (p.Glu91Asp)
c.156G>T (p.Glu52Asp)
 COSMIC
8g.27463693C>GCA370810837CHRNA2c.750G>C (p.Glu250Asp)
c.*580G>C (n.*580G>C)
c.705G>C (p.Glu235Asp)
n.290-1939G>C
c.684G>C (p.Glu228Asp)
n.480G>C
c.*152G>C (n.*152G>C)
c.273G>C (p.Glu91Asp)
c.156G>C (p.Glu52Asp)
8g.27463693C>TCA460186297CHRNA2c.750G>A (p.Glu250=)
c.*580G>A (n.*580G>A)
c.705G>A (p.Glu235=)
n.290-1939G>A
c.684G>A (p.Glu228=)
n.480G>A
c.*152G>A (n.*152G>A)
c.273G>A (p.Glu91=)
c.156G>A (p.Glu52=)
8g.27463694T>ACA370810838CHRNA2c.749A>T (p.Glu250Val)
c.*579A>T (n.*579A>T)
c.704A>T (p.Glu235Val)
n.290-1940A>T
c.683A>T (p.Glu228Val)
n.479A>T
c.*151A>T (n.*151A>T)
c.272A>T (p.Glu91Val)
c.155A>T (p.Glu52Val)
8g.27463694T>CCA370810839CHRNA2c.749A>G (p.Glu250Gly)
c.*579A>G (n.*579A>G)
c.704A>G (p.Glu235Gly)
n.290-1940A>G
c.683A>G (p.Glu228Gly)
n.479A>G
c.*151A>G (n.*151A>G)
c.272A>G (p.Glu91Gly)
c.155A>G (p.Glu52Gly)
8g.27463694T>GCA370810840CHRNA2c.749A>C (p.Glu250Ala)
c.*579A>C (n.*579A>C)
c.704A>C (p.Glu235Ala)
n.290-1940A>C
c.683A>C (p.Glu228Ala)
n.479A>C
c.*151A>C (n.*151A>C)
c.272A>C (p.Glu91Ala)
c.155A>C (p.Glu52Ala)
8g.27463695C>ACA370810841CHRNA2c.748G>T (p.Glu250Ter)
c.*578G>T (n.*578G>T)
c.703G>T (p.Glu235Ter)
n.290-1941G>T
c.682G>T (p.Glu228Ter)
n.478G>T
c.*150G>T (n.*150G>T)
c.271G>T (p.Glu91Ter)
c.154G>T (p.Glu52Ter)
8g.27463695C=CA1772814570CHRNA2c.748G= (p.Glu250=)
c.*578G= (n.*578G=)
c.703G= (p.Glu235=)
n.290-1941G=
c.682G= (p.Glu228=)
n.478G=
c.*150G= (n.*150G=)
c.271G= (p.Glu91=)
c.154G= (p.Glu52=)
8g.27463695C>GCA370810842CHRNA2c.748G>C (p.Glu250Gln)
c.*578G>C (n.*578G>C)
c.703G>C (p.Glu235Gln)
n.290-1941G>C
c.682G>C (p.Glu228Gln)
n.478G>C
c.*150G>C (n.*150G>C)
c.271G>C (p.Glu91Gln)
c.154G>C (p.Glu52Gln)
 dbSNP gnomAD v2
8g.27463695C>TCA370810843CHRNA2c.748G>A (p.Glu250Lys)
c.*578G>A (n.*578G>A)
c.703G>A (p.Glu235Lys)
n.290-1941G>A
c.682G>A (p.Glu228Lys)
n.478G>A
c.*150G>A (n.*150G>A)
c.271G>A (p.Glu91Lys)
c.154G>A (p.Glu52Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.27463696G>ACA174242398CHRNA2c.747C>T (p.Ala249=)
c.*577C>T (n.*577C>T)
c.702C>T (p.Ala234=)
n.290-1942C>T
c.681C>T (p.Ala227=)
n.477C>T
c.*149C>T (n.*149C>T)
c.270C>T (p.Ala90=)
c.153C>T (p.Ala51=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.27463696G>CCA460186303CHRNA2c.747C>G (p.Ala249=)
c.*577C>G (n.*577C>G)
c.702C>G (p.Ala234=)
n.290-1942C>G
c.681C>G (p.Ala227=)
n.477C>G
c.*149C>G (n.*149C>G)
c.270C>G (p.Ala90=)
c.153C>G (p.Ala51=)
 ClinVar dbSNP gnomAD v4
8g.27463696G=CA1772814571CHRNA2c.747C= (p.Ala249=)
c.*577C= (n.*577C=)
c.702C= (p.Ala234=)
n.290-1942C=
c.681C= (p.Ala227=)
n.477C=
c.*149C= (n.*149C=)
c.270C= (p.Ala90=)
c.153C= (p.Ala51=)
8g.27463696G>TCA460186307CHRNA2c.747C>A (p.Ala249=)
c.*577C>A (n.*577C>A)
c.702C>A (p.Ala234=)
n.290-1942C>A
c.681C>A (p.Ala227=)
n.477C>A
c.*149C>A (n.*149C>A)
c.270C>A (p.Ala90=)
c.153C>A (p.Ala51=)
8g.27463697G>ACA370810844CHRNA2c.746C>T (p.Ala249Val)
c.*576C>T (n.*576C>T)
c.701C>T (p.Ala234Val)
n.290-1943C>T
c.680C>T (p.Ala227Val)
n.476C>T
c.*148C>T (n.*148C>T)
c.269C>T (p.Ala90Val)
c.152C>T (p.Ala51Val)
8g.27463697G>CCA370810845CHRNA2c.746C>G (p.Ala249Gly)
c.*576C>G (n.*576C>G)
c.701C>G (p.Ala234Gly)
n.290-1943C>G
c.680C>G (p.Ala227Gly)
n.476C>G
c.*148C>G (n.*148C>G)
c.269C>G (p.Ala90Gly)
c.152C>G (p.Ala51Gly)
8g.27463697G=CA1772814572CHRNA2c.746C= (p.Ala249=)
c.*576C= (n.*576C=)
c.701C= (p.Ala234=)
n.290-1943C=
c.680C= (p.Ala227=)
n.476C=
c.*148C= (n.*148C=)
c.269C= (p.Ala90=)
c.152C= (p.Ala51=)
8g.27463697G>TCA370810846CHRNA2c.746C>A (p.Ala249Asp)
c.*576C>A (n.*576C>A)
c.701C>A (p.Ala234Asp)
n.290-1943C>A
c.680C>A (p.Ala227Asp)
n.476C>A
c.*148C>A (n.*148C>A)
c.269C>A (p.Ala90Asp)
c.152C>A (p.Ala51Asp)
8g.27463697_27463698insAGGTCA1112160758CHRNA2c.745_746insACCT (p.Ala249AspfsTer?)
c.*575_*576insACCT (n.*575_*576insACCT)
c.700_701insACCT (p.Ala234AspfsTer?)
n.290-1944_290-1943insACCT
c.679_680insACCT (p.Ala227AspfsTer?)
n.475_476insACCT
c.*147_*148insACCT (n.*147_*148insACCT)
c.268_269insACCT (p.Ala90AspfsTer?)
c.151_152insACCT (p.Ala51AspfsTer?)
 gnomAD v3 gnomAD v4
8g.27463697_27463698insTGGACA1112160750CHRNA2c.745_746insTCCA (p.Ala249ValfsTer?)
c.*575_*576insTCCA (n.*575_*576insTCCA)
c.700_701insTCCA (p.Ala234ValfsTer?)
n.290-1944_290-1943insTCCA
c.679_680insTCCA (p.Ala227ValfsTer?)
n.475_476insTCCA
c.*147_*148insTCCA (n.*147_*148insTCCA)
c.268_269insTCCA (p.Ala90ValfsTer?)
c.151_152insTCCA (p.Ala51ValfsTer?)
 gnomAD v3 gnomAD v4
8g.27463697_27463698insTGGTCA580954932CHRNA2c.745_746insACCA (p.Ala249AspfsTer?)
c.*575_*576insACCA (n.*575_*576insACCA)
c.700_701insACCA (p.Ala234AspfsTer?)
n.290-1944_290-1943insACCA
c.679_680insACCA (p.Ala227AspfsTer?)
n.475_476insACCA
c.*147_*148insACCA (n.*147_*148insACCA)
c.268_269insACCA (p.Ala90AspfsTer?)
c.151_152insACCA (p.Ala51AspfsTer?)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.27463698C>ACA370810847CHRNA2c.745G>T (p.Ala249Ser)
c.*575G>T (n.*575G>T)
c.700G>T (p.Ala234Ser)
n.290-1944G>T
c.679G>T (p.Ala227Ser)
n.475G>T
c.*147G>T (n.*147G>T)
c.268G>T (p.Ala90Ser)
c.151G>T (p.Ala51Ser)
8g.27463698C=CA1772814573CHRNA2c.745G= (p.Ala249=)
c.*575G= (n.*575G=)
c.700G= (p.Ala234=)
n.290-1944G=
c.679G= (p.Ala227=)
n.475G=
c.*147G= (n.*147G=)
c.268G= (p.Ala90=)
c.151G= (p.Ala51=)
8g.27463698C>GCA370810848CHRNA2c.745G>C (p.Ala249Pro)
c.*575G>C (n.*575G>C)
c.700G>C (p.Ala234Pro)
n.290-1944G>C
c.679G>C (p.Ala227Pro)
n.475G>C
c.*147G>C (n.*147G>C)
c.268G>C (p.Ala90Pro)
c.151G>C (p.Ala51Pro)
8g.27463698C>TCA313415CHRNA2c.745G>A (p.Ala249Thr)
c.*575G>A (n.*575G>A)
c.700G>A (p.Ala234Thr)
n.290-1944G>A
c.679G>A (p.Ala227Thr)
n.475G>A
c.*147G>A (n.*147G>A)
c.268G>A (p.Ala90Thr)
c.151G>A (p.Ala51Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.27463699G>ACA460186311CHRNA2c.744C>T (p.Cys248=)
c.*574C>T (n.*574C>T)
c.699C>T (p.Cys233=)
n.290-1945C>T
c.678C>T (p.Cys226=)
n.474C>T
c.*146C>T (n.*146C>T)
c.267C>T (p.Cys89=)
c.150C>T (p.Cys50=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.27463699G>CCA370810849CHRNA2c.744C>G (p.Cys248Trp)
c.*574C>G (n.*574C>G)
c.699C>G (p.Cys233Trp)
n.290-1945C>G
c.678C>G (p.Cys226Trp)
n.474C>G
c.*146C>G (n.*146C>G)
c.267C>G (p.Cys89Trp)
c.150C>G (p.Cys50Trp)
 dbSNP gnomAD v2
8g.27463699G=CA1772814574CHRNA2c.744C= (p.Cys248=)
c.*574C= (n.*574C=)
c.699C= (p.Cys233=)
n.290-1945C=
c.678C= (p.Cys226=)
n.474C=
c.*146C= (n.*146C=)
c.267C= (p.Cys89=)
c.150C= (p.Cys50=)
8g.27463699G>TCA370810850CHRNA2c.744C>A (p.Cys248Ter)
c.*574C>A (n.*574C>A)
c.699C>A (p.Cys233Ter)
n.290-1945C>A
c.678C>A (p.Cys226Ter)
n.474C>A
c.*146C>A (n.*146C>A)
c.267C>A (p.Cys89Ter)
c.150C>A (p.Cys50Ter)
8g.27463700C>ACA370810851CHRNA2c.743G>T (p.Cys248Phe)
c.*573G>T (n.*573G>T)
c.698G>T (p.Cys233Phe)
n.290-1946G>T
c.677G>T (p.Cys226Phe)
n.473G>T
c.*145G>T (n.*145G>T)
c.266G>T (p.Cys89Phe)
c.149G>T (p.Cys50Phe)
8g.27463700C>GCA370810852CHRNA2c.743G>C (p.Cys248Ser)
c.*573G>C (n.*573G>C)
c.698G>C (p.Cys233Ser)
n.290-1946G>C
c.677G>C (p.Cys226Ser)
n.473G>C
c.*145G>C (n.*145G>C)
c.266G>C (p.Cys89Ser)
c.149G>C (p.Cys50Ser)
8g.27463700C>TCA370810853CHRNA2c.743G>A (p.Cys248Tyr)
c.*573G>A (n.*573G>A)
c.698G>A (p.Cys233Tyr)
n.290-1946G>A
c.677G>A (p.Cys226Tyr)
n.473G>A
c.*145G>A (n.*145G>A)
c.266G>A (p.Cys89Tyr)
c.149G>A (p.Cys50Tyr)
8g.27463700_27463704delCA1112160764CHRNA2c.739_743del (p.Cys247ArgfsTer?)
c.*569_*573del (n.*569_*573del)
c.694_698del (p.Cys232ArgfsTer?)
n.290-1950_290-1946del
c.673_677del (p.Cys225ArgfsTer?)
n.469_473del
c.*141_*145del (n.*141_*145del)
c.262_266del (p.Cys88ArgfsTer?)
c.145_149del (p.Cys49ArgfsTer?)
 gnomAD v3 gnomAD v4
8g.27463700_27463706delinsCAGCAGTCA1772814576CHRNA2c.737_743delinsACTGCTG (p.Asp246=)
c.*567_*573delinsACTGCTG (n.*567_*573delinsACTGCTG)
c.692_698delinsACTGCTG (p.Asp231=)
n.290-1952_290-1946delinsACTGCTG
c.671_677delinsACTGCTG (p.Asp224=)
n.467_473delinsACTGCTG
c.*139_*145delinsACTGCTG (n.*139_*145delinsACTGCTG)
c.260_266delinsACTGCTG (p.Asp87=)
c.143_149delinsACTGCTG (p.Asp48=)
8g.27463700_27463701insCGTCA1112160774CHRNA2c.742_743insACG (p.Cys248delinsTyrGly)
c.*572_*573insACG (n.*572_*573insACG)
c.697_698insACG (p.Cys233delinsTyrGly)
n.290-1947_290-1946insACG
c.676_677insACG (p.Cys226delinsTyrGly)
n.472_473insACG
c.*144_*145insACG (n.*144_*145insACG)
c.265_266insACG (p.Cys89delinsTyrGly)
c.148_149insACG (p.Cys50delinsTyrGly)
 gnomAD v3 gnomAD v4
8g.27463701A>CCA370810854CHRNA2c.742T>G (p.Cys248Gly)
c.*572T>G (n.*572T>G)
c.697T>G (p.Cys233Gly)
n.290-1947T>G
c.676T>G (p.Cys226Gly)
n.472T>G
c.*144T>G (n.*144T>G)
c.265T>G (p.Cys89Gly)
c.148T>G (p.Cys50Gly)
 gnomAD v3 gnomAD v4
8g.27463701A>GCA370810855CHRNA2c.742T>C (p.Cys248Arg)
c.*572T>C (n.*572T>C)
c.697T>C (p.Cys233Arg)
n.290-1947T>C
c.676T>C (p.Cys226Arg)
n.472T>C
c.*144T>C (n.*144T>C)
c.265T>C (p.Cys89Arg)
c.148T>C (p.Cys50Arg)
8g.27463701A>TCA370810856CHRNA2c.742T>A (p.Cys248Ser)
c.*572T>A (n.*572T>A)
c.697T>A (p.Cys233Ser)
n.290-1947T>A
c.676T>A (p.Cys226Ser)
n.472T>A
c.*144T>A (n.*144T>A)
c.265T>A (p.Cys89Ser)
c.148T>A (p.Cys50Ser)
8g.27463701_27463706delCA580954933CHRNA2c.737_742del (p.Asp246_Cys248delinsGly)
c.*567_*572del (n.*567_*572del)
c.692_697del (p.Asp231_Cys233delinsGly)
n.290-1952_290-1947del
c.671_676del (p.Asp224_Cys226delinsGly)
n.467_472del
c.*139_*144del (n.*139_*144del)
c.260_265del (p.Asp87_Cys89delinsGly)
c.143_148del (p.Asp48_Cys50delinsGly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.27463702G>ACA460186327CHRNA2c.741C>T (p.Cys247=)
c.*571C>T (n.*571C>T)
c.696C>T (p.Cys232=)
n.290-1948C>T
c.675C>T (p.Cys225=)
n.471C>T
c.*143C>T (n.*143C>T)
c.264C>T (p.Cys88=)
c.147C>T (p.Cys49=)
8g.27463702G>CCA370810857CHRNA2c.741C>G (p.Cys247Trp)
c.*571C>G (n.*571C>G)
c.696C>G (p.Cys232Trp)
n.290-1948C>G
c.675C>G (p.Cys225Trp)
n.471C>G
c.*143C>G (n.*143C>G)
c.264C>G (p.Cys88Trp)
c.147C>G (p.Cys49Trp)
8g.27463702G>TCA370810858CHRNA2c.741C>A (p.Cys247Ter)
c.*571C>A (n.*571C>A)
c.696C>A (p.Cys232Ter)
n.290-1948C>A
c.675C>A (p.Cys225Ter)
n.471C>A
c.*143C>A (n.*143C>A)
c.264C>A (p.Cys88Ter)
c.147C>A (p.Cys49Ter)
 gnomAD v3 gnomAD v4
8g.27463703C>ACA370810859CHRNA2c.740G>T (p.Cys247Phe)
c.*570G>T (n.*570G>T)
c.695G>T (p.Cys232Phe)
n.290-1949G>T
c.674G>T (p.Cys225Phe)
n.470G>T
c.*142G>T (n.*142G>T)
c.263G>T (p.Cys88Phe)
c.146G>T (p.Cys49Phe)
8g.27463703C=CA1772814577CHRNA2c.740G= (p.Cys247=)
c.*570G= (n.*570G=)
c.695G= (p.Cys232=)
n.290-1949G=
c.674G= (p.Cys225=)
n.470G=
c.*142G= (n.*142G=)
c.263G= (p.Cys88=)
c.146G= (p.Cys49=)
8g.27463703C>GCA370810860CHRNA2c.740G>C (p.Cys247Ser)
c.*570G>C (n.*570G>C)
c.695G>C (p.Cys232Ser)
n.290-1949G>C
c.674G>C (p.Cys225Ser)
n.470G>C
c.*142G>C (n.*142G>C)
c.263G>C (p.Cys88Ser)
c.146G>C (p.Cys49Ser)
8g.27463703C>TCA370810861CHRNA2c.740G>A (p.Cys247Tyr)
c.*570G>A (n.*570G>A)
c.695G>A (p.Cys232Tyr)
n.290-1949G>A
c.674G>A (p.Cys225Tyr)
n.470G>A
c.*142G>A (n.*142G>A)
c.263G>A (p.Cys88Tyr)
c.146G>A (p.Cys49Tyr)
 ClinVar dbSNP
8g.27463704A>CCA370810864CHRNA2c.739T>G (p.Cys247Gly)
c.*569T>G (n.*569T>G)
c.694T>G (p.Cys232Gly)
n.290-1950T>G
c.673T>G (p.Cys225Gly)
n.469T>G
c.*141T>G (n.*141T>G)
c.262T>G (p.Cys88Gly)
c.145T>G (p.Cys49Gly)
8g.27463704A>GCA370810863CHRNA2c.739T>C (p.Cys247Arg)
c.*569T>C (n.*569T>C)
c.694T>C (p.Cys232Arg)
n.290-1950T>C
c.673T>C (p.Cys225Arg)
n.469T>C
c.*141T>C (n.*141T>C)
c.262T>C (p.Cys88Arg)
c.145T>C (p.Cys49Arg)
8g.27463704A>TCA370810862CHRNA2c.739T>A (p.Cys247Ser)
c.*569T>A (n.*569T>A)
c.694T>A (p.Cys232Ser)
n.290-1950T>A
c.673T>A (p.Cys225Ser)
n.469T>A
c.*141T>A (n.*141T>A)
c.262T>A (p.Cys88Ser)
c.145T>A (p.Cys49Ser)
8g.27463705delCA1112160778CHRNA2c.738del (p.Cys247AlafsTer?)
c.*568del (n.*568del)
c.693del (p.Cys232AlafsTer?)
n.290-1951del
c.672del (p.Cys225AlafsTer?)
n.468del
c.*140del (n.*140del)
c.261del (p.Cys88AlafsTer?)
c.144del (p.Cys49AlafsTer?)
 gnomAD v3 gnomAD v4
8g.27463705G>ACA460186334CHRNA2c.738C>T (p.Asp246=)
c.*568C>T (n.*568C>T)
c.693C>T (p.Asp231=)
n.290-1951C>T
c.672C>T (p.Asp224=)
n.468C>T
c.*140C>T (n.*140C>T)
c.261C>T (p.Asp87=)
c.144C>T (p.Asp48=)
8g.27463705G>CCA370810865CHRNA2c.738C>G (p.Asp246Glu)
c.*568C>G (n.*568C>G)
c.693C>G (p.Asp231Glu)
n.290-1951C>G
c.672C>G (p.Asp224Glu)
n.468C>G
c.*140C>G (n.*140C>G)
c.261C>G (p.Asp87Glu)
c.144C>G (p.Asp48Glu)
8g.27463705G>TCA370810866CHRNA2c.738C>A (p.Asp246Glu)
c.*568C>A (n.*568C>A)
c.693C>A (p.Asp231Glu)
n.290-1951C>A
c.672C>A (p.Asp224Glu)
n.468C>A
c.*140C>A (n.*140C>A)
c.261C>A (p.Asp87Glu)
c.144C>A (p.Asp48Glu)
 gnomAD v3 gnomAD v4
8g.27463706T>ACA370810867CHRNA2c.737A>T (p.Asp246Val)
c.*567A>T (n.*567A>T)
c.692A>T (p.Asp231Val)
n.290-1952A>T
c.671A>T (p.Asp224Val)
n.467A>T
c.*139A>T (n.*139A>T)
c.260A>T (p.Asp87Val)
c.143A>T (p.Asp48Val)
8g.27463706T>CCA370810868CHRNA2c.737A>G (p.Asp246Gly)
c.*567A>G (n.*567A>G)
c.692A>G (p.Asp231Gly)
n.290-1952A>G
c.671A>G (p.Asp224Gly)
n.467A>G
c.*139A>G (n.*139A>G)
c.260A>G (p.Asp87Gly)
c.143A>G (p.Asp48Gly)
8g.27463706T>GCA370810869CHRNA2c.737A>C (p.Asp246Ala)
c.*567A>C (n.*567A>C)
c.692A>C (p.Asp231Ala)
n.290-1952A>C
c.671A>C (p.Asp224Ala)
n.467A>C
c.*139A>C (n.*139A>C)
c.260A>C (p.Asp87Ala)
c.143A>C (p.Asp48Ala)
8g.27463706_27463707insGGCCA2562393568CHRNA2c.736_737insGCC (p.Asp246delinsGlyHis)
c.*566_*567insGCC (n.*566_*567insGCC)
c.691_692insGCC (p.Asp231delinsGlyHis)
n.290-1953_290-1952insGCC
c.670_671insGCC (p.Asp224delinsGlyHis)
n.466_467insGCC
c.*138_*139insGCC (n.*138_*139insGCC)
c.259_260insGCC (p.Asp87delinsGlyHis)
c.142_143insGCC (p.Asp48delinsGlyHis)
8g.27463707C>ACA4689602CHRNA2c.736G>T (p.Asp246Tyr)
c.*566G>T (n.*566G>T)
c.691G>T (p.Asp231Tyr)
n.290-1953G>T
c.670G>T (p.Asp224Tyr)
n.466G>T
c.*138G>T (n.*138G>T)
c.259G>T (p.Asp87Tyr)
c.142G>T (p.Asp48Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.27463707C=CA1772814582CHRNA2c.736G= (p.Asp246=)
c.*566G= (n.*566G=)
c.691G= (p.Asp231=)
n.290-1953G=
c.670G= (p.Asp224=)
n.466G=
c.*138G= (n.*138G=)
c.259G= (p.Asp87=)
c.142G= (p.Asp48=)
8g.27463707C>GCA370810870CHRNA2c.736G>C (p.Asp246His)
c.*566G>C (n.*566G>C)
c.691G>C (p.Asp231His)
n.290-1953G>C
c.670G>C (p.Asp224His)
n.466G>C
c.*138G>C (n.*138G>C)
c.259G>C (p.Asp87His)
c.142G>C (p.Asp48His)
8g.27463707C>TCA370810871CHRNA2c.736G>A (p.Asp246Asn)
c.*566G>A (n.*566G>A)
c.691G>A (p.Asp231Asn)
n.290-1953G>A
c.670G>A (p.Asp224Asn)
n.466G>A
c.*138G>A (n.*138G>A)
c.259G>A (p.Asp87Asn)
c.142G>A (p.Asp48Asn)
 dbSNP COSMIC
8g.27463707_27463708insTCCCA1112160792CHRNA2c.736_737insGAG (p.Tyr245_Asp246insGly)
c.*566_*567insGAG (n.*566_*567insGAG)
c.691_692insGAG (p.Tyr230_Asp231insGly)
n.290-1953_290-1952insGAG
c.670_671insGAG (p.Tyr223_Asp224insGly)
n.466_467insGAG
c.*138_*139insGAG (n.*138_*139insGAG)
c.259_260insGAG (p.Tyr86_Asp87insGly)
c.142_143insGAG (p.Tyr47_Asp48insGly)
 gnomAD v3 gnomAD v4
8g.27463708_27463709insACGCA1112160783CHRNA2c.736_737insTCG (p.Tyr245_Asp246insVal)
c.*566_*567insTCG (n.*566_*567insTCG)
c.691_692insTCG (p.Tyr230_Asp231insVal)
n.290-1953_290-1952insTCG
c.670_671insTCG (p.Tyr223_Asp224insVal)
n.466_467insTCG
c.*138_*139insTCG (n.*138_*139insTCG)
c.259_260insTCG (p.Tyr86_Asp87insVal)
c.142_143insTCG (p.Tyr47_Asp48insVal)
 gnomAD v3 gnomAD v4
8g.27463708G>ACA4689603CHRNA2c.735C>T (p.Tyr245=)
c.*565C>T (n.*565C>T)
c.690C>T (p.Tyr230=)
n.290-1954C>T
c.669C>T (p.Tyr223=)
n.465C>T
c.*137C>T (n.*137C>T)
c.258C>T (p.Tyr86=)
c.141C>T (p.Tyr47=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.27463708G>CCA370810872CHRNA2c.735C>G (p.Tyr245Ter)
c.*565C>G (n.*565C>G)
c.690C>G (p.Tyr230Ter)
n.290-1954C>G
c.669C>G (p.Tyr223Ter)
n.465C>G
c.*137C>G (n.*137C>G)
c.258C>G (p.Tyr86Ter)
c.141C>G (p.Tyr47Ter)
8g.27463708G=CA1772814586CHRNA2c.735C= (p.Tyr245=)
c.*565C= (n.*565C=)
c.690C= (p.Tyr230=)
n.290-1954C=
c.669C= (p.Tyr223=)
n.465C=
c.*137C= (n.*137C=)
c.258C= (p.Tyr86=)
c.141C= (p.Tyr47=)
8g.27463708G>TCA370810873CHRNA2c.735C>A (p.Tyr245Ter)
c.*565C>A (n.*565C>A)
c.690C>A (p.Tyr230Ter)
n.290-1954C>A
c.669C>A (p.Tyr223Ter)
n.465C>A
c.*137C>A (n.*137C>A)
c.258C>A (p.Tyr86Ter)
c.141C>A (p.Tyr47Ter)
 dbSNP gnomAD v4
8g.27463709T>ACA370810874CHRNA2c.734A>T (p.Tyr245Phe)
c.*564A>T (n.*564A>T)
c.689A>T (p.Tyr230Phe)
n.290-1955A>T
c.668A>T (p.Tyr223Phe)
n.464A>T
c.*136A>T (n.*136A>T)
c.257A>T (p.Tyr86Phe)
c.140A>T (p.Tyr47Phe)
8g.27463709T>CCA370810875CHRNA2c.734A>G (p.Tyr245Cys)
c.*564A>G (n.*564A>G)
c.689A>G (p.Tyr230Cys)
n.290-1955A>G
c.668A>G (p.Tyr223Cys)
n.464A>G
c.*136A>G (n.*136A>G)
c.257A>G (p.Tyr86Cys)
c.140A>G (p.Tyr47Cys)
8g.27463709T>GCA370810876CHRNA2c.734A>C (p.Tyr245Ser)
c.*564A>C (n.*564A>C)
c.689A>C (p.Tyr230Ser)
n.290-1955A>C
c.668A>C (p.Tyr223Ser)
n.464A>C
c.*136A>C (n.*136A>C)
c.257A>C (p.Tyr86Ser)
c.140A>C (p.Tyr47Ser)
8g.27463709_27463710delCA1112160803CHRNA2c.733_734del (p.Tyr245ArgfsTer?)
c.*563_*564del (n.*563_*564del)
c.688_689del (p.Tyr230ArgfsTer?)
n.290-1956_290-1955del
c.667_668del (p.Tyr223ArgfsTer?)
n.463_464del
c.*135_*136del (n.*135_*136del)
c.256_257del (p.Tyr86ArgfsTer?)
c.139_140del (p.Tyr47ArgfsTer?)
 gnomAD v3 gnomAD v4
8g.27463710A>CCA370810878CHRNA2c.733T>G (p.Tyr245Asp)
c.*563T>G (n.*563T>G)
c.688T>G (p.Tyr230Asp)
n.290-1956T>G
c.667T>G (p.Tyr223Asp)
n.463T>G
c.*135T>G (n.*135T>G)
c.256T>G (p.Tyr86Asp)
c.139T>G (p.Tyr47Asp)
8g.27463710A>GCA370810879CHRNA2c.733T>C (p.Tyr245His)
c.*563T>C (n.*563T>C)
c.688T>C (p.Tyr230His)
n.290-1956T>C
c.667T>C (p.Tyr223His)
n.463T>C
c.*135T>C (n.*135T>C)
c.256T>C (p.Tyr86His)
c.139T>C (p.Tyr47His)
8g.27463710A>TCA370810877CHRNA2c.733T>A (p.Tyr245Asn)
c.*563T>A (n.*563T>A)
c.688T>A (p.Tyr230Asn)
n.290-1956T>A
c.667T>A (p.Tyr223Asn)
n.463T>A
c.*135T>A (n.*135T>A)
c.256T>A (p.Tyr86Asn)
c.139T>A (p.Tyr47Asn)
 ClinVar
8g.27463710_27463712delinsACTCA1772814592CHRNA2c.731_733delinsAGT (p.Lys244=)
c.*561_*563delinsAGT (n.*561_*563delinsAGT)
c.686_688delinsAGT (p.Lys229=)
n.290-1958_290-1956delinsAGT
c.665_667delinsAGT (p.Lys222=)
n.461_463delinsAGT
c.*133_*135delinsAGT (n.*133_*135delinsAGT)
c.254_256delinsAGT (p.Lys85=)
c.137_139delinsAGT (p.Lys46=)
8g.27463710_27463718delCA1112160818CHRNA2c.725_733del (p.Ser242_Tyr245delinsAsn)
c.*555_*563del (n.*555_*563del)
c.680_688del (p.Ser227_Tyr230delinsAsn)
n.290-1964_290-1956del
c.659_667del (p.Ser220_Tyr223delinsAsn)
n.455_463del
c.*127_*135del (n.*127_*135del)
c.248_256del (p.Ser83_Tyr86delinsAsn)
c.131_139del (p.Ser44_Tyr47delinsAsn)
 gnomAD v3 gnomAD v4
8g.27463711C>ACA370810880CHRNA2c.732G>T (p.Lys244Asn)
c.*562G>T (n.*562G>T)
c.687G>T (p.Lys229Asn)
n.290-1957G>T
c.666G>T (p.Lys222Asn)
n.462G>T
c.*134G>T (n.*134G>T)
c.255G>T (p.Lys85Asn)
c.138G>T (p.Lys46Asn)
8g.27463711C>GCA370810881CHRNA2c.732G>C (p.Lys244Asn)
c.*562G>C (n.*562G>C)
c.687G>C (p.Lys229Asn)
n.290-1957G>C
c.666G>C (p.Lys222Asn)
n.462G>C
c.*134G>C (n.*134G>C)
c.255G>C (p.Lys85Asn)
c.138G>C (p.Lys46Asn)
 gnomAD v4
8g.27463711C>TCA460186350CHRNA2c.732G>A (p.Lys244=)
c.*562G>A (n.*562G>A)
c.687G>A (p.Lys229=)
n.290-1957G>A
c.666G>A (p.Lys222=)
n.462G>A
c.*134G>A (n.*134G>A)
c.255G>A (p.Lys85=)
c.138G>A (p.Lys46=)
8g.27463711_27463712delCA580954934CHRNA2c.731_732del (p.Lys244IlefsTer?)
c.*561_*562del (n.*561_*562del)
c.686_687del (p.Lys229IlefsTer?)
n.290-1958_290-1957del
c.665_666del (p.Lys222IlefsTer?)
n.461_462del
c.*133_*134del (n.*133_*134del)
c.254_255del (p.Lys85IlefsTer?)
c.137_138del (p.Lys46IlefsTer?)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.27463714_27463716delCA2686678236CHRNA2c.730_732del (p.Lys244del)
c.*560_*562del (n.*560_*562del)
c.685_687del (p.Lys229del)
n.290-1959_290-1957del
c.664_666del (p.Lys222del)
n.460_462del
c.*132_*134del (n.*132_*134del)
c.253_255del (p.Lys85del)
c.136_138del (p.Lys46del)
 gnomAD v4
8g.27463712T>ACA370810882CHRNA2c.731A>T (p.Lys244Met)
c.*561A>T (n.*561A>T)
c.686A>T (p.Lys229Met)
n.290-1958A>T
c.665A>T (p.Lys222Met)
n.461A>T
c.*133A>T (n.*133A>T)
c.254A>T (p.Lys85Met)
c.137A>T (p.Lys46Met)
8g.27463712T>CCA313452CHRNA2c.731A>G (p.Lys244Arg)
c.*561A>G (n.*561A>G)
c.686A>G (p.Lys229Arg)
n.290-1958A>G
c.665A>G (p.Lys222Arg)
n.461A>G
c.*133A>G (n.*133A>G)
c.254A>G (p.Lys85Arg)
c.137A>G (p.Lys46Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.27463712T>GCA370810883CHRNA2c.731A>C (p.Lys244Thr)
c.*561A>C (n.*561A>C)
c.686A>C (p.Lys229Thr)
n.290-1958A>C
c.665A>C (p.Lys222Thr)
n.461A>C
c.*133A>C (n.*133A>C)
c.254A>C (p.Lys85Thr)
c.137A>C (p.Lys46Thr)
8g.27463712T=CA1772814600CHRNA2c.731A= (p.Lys244=)
c.*561A= (n.*561A=)
c.686A= (p.Lys229=)
n.290-1958A=
c.665A= (p.Lys222=)
n.461A=
c.*133A= (n.*133A=)
c.254A= (p.Lys85=)
c.137A= (p.Lys46=)
8g.27463712_27463713delCA1112160822CHRNA2c.730_731del (p.Lys244ValfsTer?)
c.*560_*561del (n.*560_*561del)
c.685_686del (p.Lys229ValfsTer?)
n.290-1959_290-1958del
c.664_665del (p.Lys222ValfsTer?)
n.460_461del
c.*132_*133del (n.*132_*133del)
c.253_254del (p.Lys85ValfsTer?)
c.136_137del (p.Lys46ValfsTer?)
 gnomAD v3 gnomAD v4
8g.27463713T>ACA370810884CHRNA2c.730A>T (p.Lys244Ter)
c.*560A>T (n.*560A>T)
c.685A>T (p.Lys229Ter)
n.290-1959A>T
c.664A>T (p.Lys222Ter)
n.460A>T
c.*132A>T (n.*132A>T)
c.253A>T (p.Lys85Ter)
c.136A>T (p.Lys46Ter)
 gnomAD v4
8g.27463713T>CCA370810885CHRNA2c.730A>G (p.Lys244Glu)
c.*560A>G (n.*560A>G)
c.685A>G (p.Lys229Glu)
n.290-1959A>G
c.664A>G (p.Lys222Glu)
n.460A>G
c.*132A>G (n.*132A>G)
c.253A>G (p.Lys85Glu)
c.136A>G (p.Lys46Glu)
8g.27463713T>GCA370810886CHRNA2c.730A>C (p.Lys244Gln)
c.*560A>C (n.*560A>C)
c.685A>C (p.Lys229Gln)
n.290-1959A>C
c.664A>C (p.Lys222Gln)
n.460A>C
c.*132A>C (n.*132A>C)
c.253A>C (p.Lys85Gln)
c.136A>C (p.Lys46Gln)

Number of alleles fetched