Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.154571289A>CCA342630085CHRNB2c.466A>C (p.Lys156Gln)
c.472A>C (p.Lys158Gln)
c.-9-36A>C (n.-9-36A>C)
n.718A>C
1g.154571289A>GCA342630086CHRNB2c.466A>G (p.Lys156Glu)
c.472A>G (p.Lys158Glu)
c.-9-36A>G (n.-9-36A>G)
n.718A>G
ClinVar
1g.154571289A>TCA342630087CHRNB2c.466A>T (p.Lys156Ter)
c.472A>T (p.Lys158Ter)
c.-9-36A>T (n.-9-36A>T)
n.718A>T
1g.154571290A>CCA342630088CHRNB2c.467A>C (p.Lys156Thr)
c.473A>C (p.Lys158Thr)
c.-9-35A>C (n.-9-35A>C)
n.719A>C
1g.154571290A>GCA342630089CHRNB2c.467A>G (p.Lys156Arg)
c.473A>G (p.Lys158Arg)
c.-9-35A>G (n.-9-35A>G)
n.719A>G
1g.154571290A>TCA342630090CHRNB2c.467A>T (p.Lys156Met)
c.473A>T (p.Lys158Met)
c.-9-35A>T (n.-9-35A>T)
n.719A>T
1g.154571291G>ACA421230837CHRNB2c.468G>A (p.Lys156=)
c.474G>A (p.Lys158=)
c.-9-34G>A (n.-9-34G>A)
n.720G>A
1g.154571291G>CCA342630091CHRNB2c.468G>C (p.Lys156Asn)
c.474G>C (p.Lys158Asn)
c.-9-34G>C (n.-9-34G>C)
n.720G>C
gnomAD v4 COSMIC
1g.154571291G>TCA342630092CHRNB2c.468G>T (p.Lys156Asn)
c.474G>T (p.Lys158Asn)
c.-9-34G>T (n.-9-34G>T)
n.720G>T
1g.154571292A>CCA342630095CHRNB2c.469A>C (p.Ile157Leu)
c.475A>C (p.Ile159Leu)
c.-9-33A>C (n.-9-33A>C)
n.721A>C
1g.154571292A>GCA342630093CHRNB2c.469A>G (p.Ile157Val)
c.475A>G (p.Ile159Val)
c.-9-33A>G (n.-9-33A>G)
n.721A>G
1g.154571292A>TCA342630094CHRNB2c.469A>T (p.Ile157Phe)
c.475A>T (p.Ile159Phe)
c.-9-33A>T (n.-9-33A>T)
n.721A>T
gnomAD v4
1g.154571293T>ACA342630096CHRNB2c.470T>A (p.Ile157Asn)
c.476T>A (p.Ile159Asn)
c.-9-32T>A (n.-9-32T>A)
n.722T>A
ClinVar
1g.154571293T>CCA1130737CHRNB2c.470T>C (p.Ile157Thr)
c.476T>C (p.Ile159Thr)
c.-9-32T>C (n.-9-32T>C)
n.722T>C
dbSNP ExAC gnomAD v4
1g.154571293T>GCA342630097CHRNB2c.470T>G (p.Ile157Ser)
c.476T>G (p.Ile159Ser)
c.-9-32T>G (n.-9-32T>G)
n.722T>G
1g.154571293T=CA2480925210CHRNB2c.470T= (p.Ile157=)
c.476T= (p.Ile159=)
c.-9-32T= (n.-9-32T=)
n.722T=
1g.154571294T>ACA421230841CHRNB2c.471T>A (p.Ile157=)
c.477T>A (p.Ile159=)
c.-9-31T>A (n.-9-31T>A)
n.723T>A
1g.154571294T>CCA421230844CHRNB2c.471T>C (p.Ile157=)
c.477T>C (p.Ile159=)
c.-9-31T>C (n.-9-31T>C)
n.723T>C
1g.154571294T>GCA342630098CHRNB2c.471T>G (p.Ile157Met)
c.477T>G (p.Ile159Met)
c.-9-31T>G (n.-9-31T>G)
n.723T>G
1g.154571295G>ACA342630099CHRNB2c.472G>A (p.Glu158Lys)
c.478G>A (p.Glu160Lys)
c.-9-30G>A (n.-9-30G>A)
n.724G>A
1g.154571295G>CCA342630100CHRNB2c.472G>C (p.Glu158Gln)
c.478G>C (p.Glu160Gln)
c.-9-30G>C (n.-9-30G>C)
n.724G>C
1g.154571295G>TCA342630101CHRNB2c.472G>T (p.Glu158Ter)
c.478G>T (p.Glu160Ter)
c.-9-30G>T (n.-9-30G>T)
n.724G>T
1g.154571296A>CCA342630102CHRNB2c.473A>C (p.Glu158Ala)
c.479A>C (p.Glu160Ala)
c.-9-29A>C (n.-9-29A>C)
n.725A>C
1g.154571296A>GCA342630103CHRNB2c.473A>G (p.Glu158Gly)
c.479A>G (p.Glu160Gly)
c.-9-29A>G (n.-9-29A>G)
n.725A>G
1g.154571296A>TCA342630104CHRNB2c.473A>T (p.Glu158Val)
c.479A>T (p.Glu160Val)
c.-9-29A>T (n.-9-29A>T)
n.725A>T
1g.154571297A>CCA342630105CHRNB2c.474A>C (p.Glu158Asp)
c.480A>C (p.Glu160Asp)
c.-9-28A>C (n.-9-28A>C)
n.726A>C
1g.154571297A>GCA421230845CHRNB2c.474A>G (p.Glu158=)
c.480A>G (p.Glu160=)
c.-9-28A>G (n.-9-28A>G)
n.726A>G
1g.154571297A>TCA342630106CHRNB2c.474A>T (p.Glu158Asp)
c.480A>T (p.Glu160Asp)
c.-9-28A>T (n.-9-28A>T)
n.726A>T
1g.154571298G>ACA342630107CHRNB2c.475G>A (p.Val159Ile)
c.481G>A (p.Val161Ile)
c.-9-27G>A (n.-9-27G>A)
n.727G>A
1g.154571298G>CCA342630109CHRNB2c.475G>C (p.Val159Leu)
c.481G>C (p.Val161Leu)
c.-9-27G>C (n.-9-27G>C)
n.727G>C
1g.154571298G>TCA342630108CHRNB2c.475G>T (p.Val159Leu)
c.481G>T (p.Val161Leu)
c.-9-27G>T (n.-9-27G>T)
n.727G>T
1g.154571299T>ACA342630110CHRNB2c.476T>A (p.Val159Glu)
c.482T>A (p.Val161Glu)
c.-9-26T>A (n.-9-26T>A)
n.728T>A
1g.154571299T>CCA342630112CHRNB2c.476T>C (p.Val159Ala)
c.482T>C (p.Val161Ala)
c.-9-26T>C (n.-9-26T>C)
n.728T>C
1g.154571299T>GCA342630111CHRNB2c.476T>G (p.Val159Gly)
c.482T>G (p.Val161Gly)
c.-9-26T>G (n.-9-26T>G)
n.728T>G
COSMIC
1g.154571300A>CCA421230850CHRNB2c.477A>C (p.Val159=)
c.483A>C (p.Val161=)
c.-9-25A>C (n.-9-25A>C)
n.729A>C
1g.154571300A>GCA421230849CHRNB2c.477A>G (p.Val159=)
c.483A>G (p.Val161=)
c.-9-25A>G (n.-9-25A>G)
n.729A>G
1g.154571300A>TCA421230848CHRNB2c.477A>T (p.Val159=)
c.483A>T (p.Val161=)
c.-9-25A>T (n.-9-25A>T)
n.729A>T
1g.154571301A>CCA342630113CHRNB2c.478A>C (p.Lys160Gln)
c.484A>C (p.Lys162Gln)
c.-9-24A>C (n.-9-24A>C)
n.730A>C
1g.154571301A>GCA342630114CHRNB2c.478A>G (p.Lys160Glu)
c.484A>G (p.Lys162Glu)
c.-9-24A>G (n.-9-24A>G)
n.730A>G
1g.154571301A>TCA342630115CHRNB2c.478A>T (p.Lys160Ter)
c.484A>T (p.Lys162Ter)
c.-9-24A>T (n.-9-24A>T)
n.730A>T
1g.154571302A>CCA342630116CHRNB2c.479A>C (p.Lys160Thr)
c.485A>C (p.Lys162Thr)
c.-9-23A>C (n.-9-23A>C)
n.731A>C
1g.154571302A>GCA342630117CHRNB2c.479A>G (p.Lys160Arg)
c.485A>G (p.Lys162Arg)
c.-9-23A>G (n.-9-23A>G)
n.731A>G
1g.154571302A>TCA342630118CHRNB2c.479A>T (p.Lys160Met)
c.485A>T (p.Lys162Met)
c.-9-23A>T (n.-9-23A>T)
n.731A>T
1g.154571303G>ACA421230853CHRNB2c.480G>A (p.Lys160=)
c.486G>A (p.Lys162=)
c.-9-22G>A (n.-9-22G>A)
n.732G>A
1g.154571303G>CCA342630119CHRNB2c.480G>C (p.Lys160Asn)
c.486G>C (p.Lys162Asn)
c.-9-22G>C (n.-9-22G>C)
n.732G>C
1g.154571303G>TCA342630120CHRNB2c.480G>T (p.Lys160Asn)
c.486G>T (p.Lys162Asn)
c.-9-22G>T (n.-9-22G>T)
n.732G>T
1g.154571304C>ACA342630121CHRNB2c.481C>A (p.His161Asn)
c.487C>A (p.His163Asn)
c.-9-21C>A (n.-9-21C>A)
n.733C>A
1g.154571304C=CA2480925211CHRNB2c.481C= (p.His161=)
c.487C= (p.His163=)
c.-9-21C= (n.-9-21C=)
n.733C=
1g.154571304C>GCA342630122CHRNB2c.481C>G (p.His161Asp)
c.487C>G (p.His163Asp)
c.-9-21C>G (n.-9-21C>G)
n.733C>G
1g.154571304C>TCA342630123CHRNB2c.481C>T (p.His161Tyr)
c.487C>T (p.His163Tyr)
c.-9-21C>T (n.-9-21C>T)
n.733C>T
ClinVar dbSNP gnomAD v4
1g.154571305A>CCA342630126CHRNB2c.482A>C (p.His161Pro)
c.488A>C (p.His163Pro)
c.-9-20A>C (n.-9-20A>C)
n.734A>C
1g.154571305A>GCA342630125CHRNB2c.482A>G (p.His161Arg)
c.488A>G (p.His163Arg)
c.-9-20A>G (n.-9-20A>G)
n.734A>G
1g.154571305A>TCA342630124CHRNB2c.482A>T (p.His161Leu)
c.488A>T (p.His163Leu)
c.-9-20A>T (n.-9-20A>T)
n.734A>T
1g.154571306C>ACA342630127CHRNB2c.483C>A (p.His161Gln)
c.489C>A (p.His163Gln)
c.-9-19C>A (n.-9-19C>A)
n.735C>A
1g.154571306C=CA1143182610CHRNB2c.483C= (p.His161=)
c.489C= (p.His163=)
c.-9-19C= (n.-9-19C=)
n.735C=
1g.154571306C>GCA342630128CHRNB2c.483C>G (p.His161Gln)
c.489C>G (p.His163Gln)
c.-9-19C>G (n.-9-19C>G)
n.735C>G
1g.154571306C>TCA1130738CHRNB2c.483C>T (p.His161=)
c.489C>T (p.His163=)
c.-9-19C>T (n.-9-19C>T)
n.735C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.154571307T>ACA342630129CHRNB2c.484T>A (p.Phe162Ile)
c.490T>A (p.Phe164Ile)
c.-9-18T>A (n.-9-18T>A)
n.736T>A
1g.154571307T>CCA342630130CHRNB2c.484T>C (p.Phe162Leu)
c.490T>C (p.Phe164Leu)
c.-9-18T>C (n.-9-18T>C)
n.736T>C
gnomAD v4
1g.154571307T>GCA342630131CHRNB2c.484T>G (p.Phe162Val)
c.490T>G (p.Phe164Val)
c.-9-18T>G (n.-9-18T>G)
n.736T>G
1g.154571308T>ACA342630132CHRNB2c.485T>A (p.Phe162Tyr)
c.491T>A (p.Phe164Tyr)
c.-9-17T>A (n.-9-17T>A)
n.737T>A
1g.154571308T>CCA342630133CHRNB2c.485T>C (p.Phe162Ser)
c.491T>C (p.Phe164Ser)
c.-9-17T>C (n.-9-17T>C)
n.737T>C
ClinVar dbSNP gnomAD v4
1g.154571308T>GCA342630134CHRNB2c.485T>G (p.Phe162Cys)
c.491T>G (p.Phe164Cys)
c.-9-17T>G (n.-9-17T>G)
n.737T>G
1g.154571308T=CA2480925212CHRNB2c.485T= (p.Phe162=)
c.491T= (p.Phe164=)
c.-9-17T= (n.-9-17T=)
n.737T=
1g.154571309C>ACA342630135CHRNB2c.486C>A (p.Phe162Leu)
c.492C>A (p.Phe164Leu)
c.-9-16C>A (n.-9-16C>A)
n.738C>A
1g.154571309C=CA2480925213CHRNB2c.486C= (p.Phe162=)
c.492C= (p.Phe164=)
c.-9-16C= (n.-9-16C=)
n.738C=
1g.154571309C>GCA342630136CHRNB2c.486C>G (p.Phe162Leu)
c.492C>G (p.Phe164Leu)
c.-9-16C>G (n.-9-16C>G)
n.738C>G
gnomAD v4
1g.154571309C>TCA421230859CHRNB2c.486C>T (p.Phe162=)
c.492C>T (p.Phe164=)
c.-9-16C>T (n.-9-16C>T)
n.738C>T
dbSNP gnomAD v2 gnomAD v4
1g.154571310C>ACA342630139CHRNB2c.487C>A (p.Pro163Thr)
c.493C>A (p.Pro165Thr)
c.-9-15C>A (n.-9-15C>A)
n.739C>A
1g.154571310C=CA2480925214CHRNB2c.487C= (p.Pro163=)
c.493C= (p.Pro165=)
c.-9-15C= (n.-9-15C=)
n.739C=
1g.154571310C>GCA342630138CHRNB2c.487C>G (p.Pro163Ala)
c.493C>G (p.Pro165Ala)
c.-9-15C>G (n.-9-15C>G)
n.739C>G
1g.154571310C>TCA342630137CHRNB2c.487C>T (p.Pro163Ser)
c.493C>T (p.Pro165Ser)
c.-9-15C>T (n.-9-15C>T)
n.739C>T
dbSNP
1g.154571311C>ACA342630140CHRNB2c.488C>A (p.Pro163Gln)
c.494C>A (p.Pro165Gln)
c.-9-14C>A (n.-9-14C>A)
n.740C>A
COSMIC
1g.154571311C=CA2480925215CHRNB2c.488C= (p.Pro163=)
c.494C= (p.Pro165=)
c.-9-14C= (n.-9-14C=)
n.740C=
1g.154571311C>GCA342630141CHRNB2c.488C>G (p.Pro163Arg)
c.494C>G (p.Pro165Arg)
c.-9-14C>G (n.-9-14C>G)
n.740C>G
1g.154571311C>TCA342630142CHRNB2c.488C>T (p.Pro163Leu)
c.494C>T (p.Pro165Leu)
c.-9-14C>T (n.-9-14C>T)
n.740C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.154571312A>CCA421230865CHRNB2c.489A>C (p.Pro163=)
c.495A>C (p.Pro165=)
c.-9-13A>C (n.-9-13A>C)
n.741A>C
1g.154571312A>GCA421230868CHRNB2c.489A>G (p.Pro163=)
c.495A>G (p.Pro165=)
c.-9-13A>G (n.-9-13A>G)
n.741A>G
1g.154571312A>TCA421230867CHRNB2c.489A>T (p.Pro163=)
c.495A>T (p.Pro165=)
c.-9-13A>T (n.-9-13A>T)
n.741A>T
1g.154571313T>ACA342630143CHRNB2c.490T>A (p.Phe164Ile)
c.496T>A (p.Phe166Ile)
c.-9-12T>A (n.-9-12T>A)
n.742T>A
1g.154571313T>CCA342630144CHRNB2c.490T>C (p.Phe164Leu)
c.496T>C (p.Phe166Leu)
c.-9-12T>C (n.-9-12T>C)
n.742T>C
1g.154571313T>GCA342630145CHRNB2c.490T>G (p.Phe164Val)
c.496T>G (p.Phe166Val)
c.-9-12T>G (n.-9-12T>G)
n.742T>G
1g.154571314T>ACA342630148CHRNB2c.491T>A (p.Phe164Tyr)
c.497T>A (p.Phe166Tyr)
c.-9-11T>A (n.-9-11T>A)
n.743T>A
1g.154571314T>CCA342630146CHRNB2c.491T>C (p.Phe164Ser)
c.497T>C (p.Phe166Ser)
c.-9-11T>C (n.-9-11T>C)
n.743T>C
1g.154571314T>GCA342630147CHRNB2c.491T>G (p.Phe164Cys)
c.497T>G (p.Phe166Cys)
c.-9-11T>G (n.-9-11T>G)
n.743T>G
1g.154571315T>ACA342630149CHRNB2c.492T>A (p.Phe164Leu)
c.498T>A (p.Phe166Leu)
c.-9-10T>A (n.-9-10T>A)
n.744T>A
1g.154571315T>CCA421230872CHRNB2c.492T>C (p.Phe164=)
c.498T>C (p.Phe166=)
c.-9-10T>C (n.-9-10T>C)
n.744T>C
1g.154571315T>GCA342630150CHRNB2c.492T>G (p.Phe164Leu)
c.498T>G (p.Phe166Leu)
c.-9-10T>G (n.-9-10T>G)
n.744T>G
1g.154571316G>ACA342630151CHRNB2c.493G>A (p.Asp165Asn)
c.499G>A (p.Asp167Asn)
c.-9-9G>A (n.-9-9G>A)
n.745G>A
1g.154571316G>CCA342630152CHRNB2c.493G>C (p.Asp165His)
c.499G>C (p.Asp167His)
c.-9-9G>C (n.-9-9G>C)
n.745G>C
dbSNP
1g.154571316G=CA2480925216CHRNB2c.493G= (p.Asp165=)
c.499G= (p.Asp167=)
c.-9-9G= (n.-9-9G=)
n.745G=
1g.154571316G>TCA342630153CHRNB2c.493G>T (p.Asp165Tyr)
c.499G>T (p.Asp167Tyr)
c.-9-9G>T (n.-9-9G>T)
n.745G>T
gnomAD v4
1g.154571317A>CCA342630154CHRNB2c.494A>C (p.Asp165Ala)
c.500A>C (p.Asp167Ala)
c.-9-8A>C (n.-9-8A>C)
n.746A>C
1g.154571317A>GCA342630156CHRNB2c.494A>G (p.Asp165Gly)
c.500A>G (p.Asp167Gly)
c.-9-8A>G (n.-9-8A>G)
n.746A>G
1g.154571317A>TCA342630155CHRNB2c.494A>T (p.Asp165Val)
c.500A>T (p.Asp167Val)
c.-9-8A>T (n.-9-8A>T)
n.746A>T
1g.154571318C>ACA342630157CHRNB2c.495C>A (p.Asp165Glu)
c.501C>A (p.Asp167Glu)
c.-9-7C>A (n.-9-7C>A)
n.747C>A
1g.154571318C>GCA342630158CHRNB2c.495C>G (p.Asp165Glu)
c.501C>G (p.Asp167Glu)
c.-9-7C>G (n.-9-7C>G)
n.747C>G
1g.154571318C>TCA421230877CHRNB2c.495C>T (p.Asp165=)
c.501C>T (p.Asp167=)
c.-9-7C>T (n.-9-7C>T)
n.747C>T
1g.154571319C>ACA342630159CHRNB2c.496C>A (p.Gln166Lys)
c.502C>A (p.Gln168Lys)
c.-9-6C>A (n.-9-6C>A)
n.748C>A
1g.154571319C>GCA342630160CHRNB2c.496C>G (p.Gln166Glu)
c.502C>G (p.Gln168Glu)
c.-9-6C>G (n.-9-6C>G)
n.748C>G
gnomAD v4
1g.154571319C>TCA342630161CHRNB2c.496C>T (p.Gln166Ter)
c.502C>T (p.Gln168Ter)
c.-9-6C>T (n.-9-6C>T)
n.748C>T
1g.154571320A=CA2480925217CHRNB2c.497A= (p.Gln166=)
c.503A= (p.Gln168=)
c.-9-5A= (n.-9-5A=)
n.749A=
1g.154571320A>CCA342630162CHRNB2c.497A>C (p.Gln166Pro)
c.503A>C (p.Gln168Pro)
c.-9-5A>C (n.-9-5A>C)
n.749A>C
1g.154571320A>GCA342630163CHRNB2c.497A>G (p.Gln166Arg)
c.503A>G (p.Gln168Arg)
c.-9-5A>G (n.-9-5A>G)
n.749A>G
dbSNP gnomAD v2 gnomAD v4
1g.154571320A>TCA342630164CHRNB2c.497A>T (p.Gln166Leu)
c.503A>T (p.Gln168Leu)
c.-9-5A>T (n.-9-5A>T)
n.749A>T
1g.154571321G>ACA421230881CHRNB2c.498G>A (p.Gln166=)
c.504G>A (p.Gln168=)
c.-9-4G>A (n.-9-4G>A)
n.750G>A
ClinVar dbSNP
1g.154571321G>CCA342630165CHRNB2c.498G>C (p.Gln166His)
c.504G>C (p.Gln168His)
c.-9-4G>C (n.-9-4G>C)
n.750G>C
1g.154571321G>TCA342630166CHRNB2c.498G>T (p.Gln166His)
c.504G>T (p.Gln168His)
c.-9-4G>T (n.-9-4G>T)
n.750G>T
1g.154571322C>ACA342630167CHRNB2c.499C>A (p.Gln167Lys)
c.505C>A (p.Gln169Lys)
c.-9-3C>A (n.-9-3C>A)
n.751C>A
gnomAD v4 COSMIC
1g.154571322C>GCA342630169CHRNB2c.499C>G (p.Gln167Glu)
c.505C>G (p.Gln169Glu)
c.-9-3C>G (n.-9-3C>G)
n.751C>G
1g.154571322C>TCA342630168CHRNB2c.499C>T (p.Gln167Ter)
c.505C>T (p.Gln169Ter)
c.-9-3C>T (n.-9-3C>T)
n.751C>T
1g.154571323A>CCA342630170CHRNB2c.500A>C (p.Gln167Pro)
c.506A>C (p.Gln169Pro)
c.-9-2A>C (n.-9-2A>C)
n.752A>C
1g.154571323A>GCA342630172CHRNB2c.500A>G (p.Gln167Arg)
c.506A>G (p.Gln169Arg)
c.-9-2A>G (n.-9-2A>G)
n.752A>G
gnomAD v4
1g.154571323A>TCA342630171CHRNB2c.500A>T (p.Gln167Leu)
c.506A>T (p.Gln169Leu)
c.-9-2A>T (n.-9-2A>T)
n.752A>T
1g.154571324G>ACA421230886CHRNB2c.501G>A (p.Gln167=)
c.507G>A (p.Gln169=)
c.-9-1G>A (n.-9-1G>A)
n.753G>A
1g.154571324G>CCA342630173CHRNB2c.501G>C (p.Gln167His)
c.507G>C (p.Gln169His)
c.-9-1G>C (n.-9-1G>C)
n.753G>C
1g.154571324G>TCA342630174CHRNB2c.501G>T (p.Gln167His)
c.507G>T (p.Gln169His)
c.-9-1G>T (n.-9-1G>T)
n.753G>T
1g.154571325A>CCA342630175CHRNB2c.502A>C (p.Asn168His)
c.508A>C (p.Asn170His)
c.-9A>C (n.-9A>C)
n.754A>C
1g.154571325A>GCA342630176CHRNB2c.502A>G (p.Asn168Asp)
c.508A>G (p.Asn170Asp)
c.-9A>G (n.-9A>G)
n.754A>G
1g.154571325A>TCA342630177CHRNB2c.502A>T (p.Asn168Tyr)
c.508A>T (p.Asn170Tyr)
c.-9A>T (n.-9A>T)
n.754A>T
1g.154571326A>CCA342630178CHRNB2c.503A>C (p.Asn168Thr)
c.509A>C (p.Asn170Thr)
c.-8A>C (n.-8A>C)
n.755A>C
1g.154571326A>GCA342630179CHRNB2c.503A>G (p.Asn168Ser)
c.509A>G (p.Asn170Ser)
c.-8A>G (n.-8A>G)
n.755A>G
1g.154571326A>TCA342630180CHRNB2c.503A>T (p.Asn168Ile)
c.509A>T (p.Asn170Ile)
c.-8A>T (n.-8A>T)
n.755A>T
1g.154571327C>ACA342630181CHRNB2c.504C>A (p.Asn168Lys)
c.510C>A (p.Asn170Lys)
c.-7C>A (n.-7C>A)
n.756C>A
1g.154571327C=CA2480925218CHRNB2c.504C= (p.Asn168=)
c.510C= (p.Asn170=)
c.-7C= (n.-7C=)
n.756C=
1g.154571327C>GCA342630182CHRNB2c.504C>G (p.Asn168Lys)
c.510C>G (p.Asn170Lys)
c.-7C>G (n.-7C>G)
n.756C>G
1g.154571327C>TCA421230891CHRNB2c.504C>T (p.Asn168=)
c.510C>T (p.Asn170=)
c.-7C>T (n.-7C>T)
n.756C>T
dbSNP
1g.154571328T>ACA342630183CHRNB2c.505T>A (p.Cys169Ser)
c.511T>A (p.Cys171Ser)
c.-6T>A (n.-6T>A)
n.757T>A
1g.154571328T>CCA342630184CHRNB2c.505T>C (p.Cys169Arg)
c.511T>C (p.Cys171Arg)
c.-6T>C (n.-6T>C)
n.757T>C
1g.154571328T>GCA342630185CHRNB2c.505T>G (p.Cys169Gly)
c.511T>G (p.Cys171Gly)
c.-6T>G (n.-6T>G)
n.757T>G
gnomAD v4
1g.154571329G>ACA342630188CHRNB2c.506G>A (p.Cys169Tyr)
c.512G>A (p.Cys171Tyr)
c.-5G>A (n.-5G>A)
n.758G>A
1g.154571329G>CCA342630187CHRNB2c.506G>C (p.Cys169Ser)
c.512G>C (p.Cys171Ser)
c.-5G>C (n.-5G>C)
n.758G>C
1g.154571329G>TCA342630186CHRNB2c.506G>T (p.Cys169Phe)
c.512G>T (p.Cys171Phe)
c.-5G>T (n.-5G>T)
n.758G>T
1g.154571330C>ACA342630189CHRNB2c.507C>A (p.Cys169Ter)
c.513C>A (p.Cys171Ter)
c.-4C>A (n.-4C>A)
n.759C>A
1g.154571330C>GCA342630190CHRNB2c.507C>G (p.Cys169Trp)
c.513C>G (p.Cys171Trp)
c.-4C>G (n.-4C>G)
n.759C>G
1g.154571330C>TCA421230896CHRNB2c.507C>T (p.Cys169=)
c.513C>T (p.Cys171=)
c.-4C>T (n.-4C>T)
n.759C>T
1g.154571331A=CA1143453964CHRNB2c.508A= (p.Thr170=)
c.514A= (p.Thr172=)
c.-3A= (n.-3A=)
n.760A=
1g.154571331A>CCA342630191CHRNB2c.508A>C (p.Thr170Pro)
c.514A>C (p.Thr172Pro)
c.-3A>C (n.-3A>C)
n.760A>C
1g.154571331A>GCA30834140CHRNB2c.508A>G (p.Thr170Ala)
c.514A>G (p.Thr172Ala)
c.-3A>G (n.-3A>G)
n.760A>G
dbSNP
1g.154571331A>TCA342630192CHRNB2c.508A>T (p.Thr170Ser)
c.514A>T (p.Thr172Ser)
c.-3A>T (n.-3A>T)
n.760A>T
1g.154571332C>ACA342630193CHRNB2c.509C>A (p.Thr170Asn)
c.515C>A (p.Thr172Asn)
c.-2C>A (n.-2C>A)
n.761C>A
1g.154571332C=CA2480925219CHRNB2c.509C= (p.Thr170=)
c.515C= (p.Thr172=)
c.-2C= (n.-2C=)
n.761C=
1g.154571332C>GCA342630194CHRNB2c.509C>G (p.Thr170Ser)
c.515C>G (p.Thr172Ser)
c.-2C>G (n.-2C>G)
n.761C>G
dbSNP gnomAD v3 gnomAD v4
1g.154571332C>TCA342630195CHRNB2c.509C>T (p.Thr170Ile)
c.515C>T (p.Thr172Ile)
c.-2C>T (n.-2C>T)
n.761C>T
1g.154571333C>ACA421230900CHRNB2c.510C>A (p.Thr170=)
c.516C>A (p.Thr172=)
c.-1C>A (n.-1C>A)
n.762C>A
1g.154571333C>GCA421230903CHRNB2c.510C>G (p.Thr170=)
c.516C>G (p.Thr172=)
c.-1C>G (n.-1C>G)
n.762C>G
1g.154571333C>TCA421230901CHRNB2c.510C>T (p.Thr170=)
c.516C>T (p.Thr172=)
c.-1C>T (n.-1C>T)
n.762C>T
1g.154571334A=CA2480925220CHRNB2c.511A= (p.Met171=)
c.517A= (p.Met173=)
c.1A= (p.Met1=)
n.763A=
1g.154571334A>CCA342630196CHRNB2c.511A>C (p.Met171Leu)
c.517A>C (p.Met173Leu)
c.1A>C (p.Met1Leu)
n.763A>C
1g.154571334A>GCA342630197CHRNB2c.511A>G (p.Met171Val)
c.517A>G (p.Met173Val)
c.1A>G (p.Met1Val)
n.763A>G
dbSNP gnomAD v4
1g.154571334A>TCA342630198CHRNB2c.511A>T (p.Met171Leu)
c.517A>T (p.Met173Leu)
c.1A>T (p.Met1Leu)
n.763A>T
1g.154571335T>ACA342630199CHRNB2c.512T>A (p.Met171Lys)
c.518T>A (p.Met173Lys)
c.2T>A (p.Met1Lys)
n.764T>A
1g.154571335T>CCA30834146CHRNB2c.512T>C (p.Met171Thr)
c.518T>C (p.Met173Thr)
c.2T>C (p.Met1Thr)
n.764T>C
dbSNP
1g.154571335T>GCA342630200CHRNB2c.512T>G (p.Met171Arg)
c.518T>G (p.Met173Arg)
c.2T>G (p.Met1Arg)
n.764T>G
1g.154571335T=CA2480925221CHRNB2c.512T= (p.Met171=)
c.518T= (p.Met173=)
c.2T= (p.Met1=)
n.764T=
1g.154571336G>ACA342630203CHRNB2c.513G>A (p.Met171Ile)
c.519G>A (p.Met173Ile)
c.3G>A (p.Met1Ile)
n.765G>A
1g.154571336G>CCA342630202CHRNB2c.513G>C (p.Met171Ile)
c.519G>C (p.Met173Ile)
c.3G>C (p.Met1Ile)
n.765G>C
1g.154571336G>TCA342630201CHRNB2c.513G>T (p.Met171Ile)
c.519G>T (p.Met173Ile)
c.3G>T (p.Met1Ile)
n.765G>T
1g.154571337A>CCA342630204CHRNB2c.514A>C (p.Lys172Gln)
c.520A>C (p.Lys174Gln)
c.4A>C (p.Lys2Gln)
n.766A>C
1g.154571337A>GCA342630205CHRNB2c.514A>G (p.Lys172Glu)
c.520A>G (p.Lys174Glu)
c.4A>G (p.Lys2Glu)
n.766A>G
1g.154571337A>TCA342630206CHRNB2c.514A>T (p.Lys172Ter)
c.520A>T (p.Lys174Ter)
c.4A>T (p.Lys2Ter)
n.766A>T
1g.154571338A=CA2480925222CHRNB2c.515A= (p.Lys172=)
c.521A= (p.Lys174=)
c.5A= (p.Lys2=)
n.767A=
1g.154571338A>CCA342630207CHRNB2c.515A>C (p.Lys172Thr)
c.521A>C (p.Lys174Thr)
c.5A>C (p.Lys2Thr)
n.767A>C
1g.154571338A>GCA342630208CHRNB2c.515A>G (p.Lys172Arg)
c.521A>G (p.Lys174Arg)
c.5A>G (p.Lys2Arg)
n.767A>G
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.154571338A>TCA342630209CHRNB2c.515A>T (p.Lys172Met)
c.521A>T (p.Lys174Met)
c.5A>T (p.Lys2Met)
n.767A>T
1g.154571339G>ACA421230911CHRNB2c.516G>A (p.Lys172=)
c.522G>A (p.Lys174=)
c.6G>A (p.Lys2=)
n.768G>A
dbSNP gnomAD v2 gnomAD v4
1g.154571339G>CCA342630210CHRNB2c.516G>C (p.Lys172Asn)
c.522G>C (p.Lys174Asn)
c.6G>C (p.Lys2Asn)
n.768G>C
dbSNP
1g.154571339G=CA2480925223CHRNB2c.516G= (p.Lys172=)
c.522G= (p.Lys174=)
c.6G= (p.Lys2=)
n.768G=
1g.154571339G>TCA342630211CHRNB2c.516G>T (p.Lys172Asn)
c.522G>T (p.Lys174Asn)
c.6G>T (p.Lys2Asn)
n.768G>T
1g.154571340T>ACA342630212CHRNB2c.517T>A (p.Phe173Ile)
c.523T>A (p.Phe175Ile)
c.7T>A (p.Phe3Ile)
n.769T>A
1g.154571340T>CCA342630213CHRNB2c.517T>C (p.Phe173Leu)
c.523T>C (p.Phe175Leu)
c.7T>C (p.Phe3Leu)
n.769T>C
dbSNP gnomAD v3 gnomAD v4
1g.154571340T>GCA342630214CHRNB2c.517T>G (p.Phe173Val)
c.523T>G (p.Phe175Val)
c.7T>G (p.Phe3Val)
n.769T>G
1g.154571340T=CA2480925224CHRNB2c.517T= (p.Phe173=)
c.523T= (p.Phe175=)
c.7T= (p.Phe3=)
n.769T=
1g.154571340_154571343dupCA2648169730CHRNB2c.517_520dup (p.Arg174LeufsTer18)
c.523_526dup (p.Arg176LeufsTer18)
c.7_10dup (p.Arg4LeufsTer18)
n.769_772dup
gnomAD v4
1g.154571341T>ACA342630215CHRNB2c.518T>A (p.Phe173Tyr)
c.524T>A (p.Phe175Tyr)
c.8T>A (p.Phe3Tyr)
n.770T>A
1g.154571341T>CCA342630216CHRNB2c.518T>C (p.Phe173Ser)
c.524T>C (p.Phe175Ser)
c.8T>C (p.Phe3Ser)
n.770T>C
1g.154571341T>GCA342630217CHRNB2c.518T>G (p.Phe173Cys)
c.524T>G (p.Phe175Cys)
c.8T>G (p.Phe3Cys)
n.770T>G
1g.154571342C>ACA342630219CHRNB2c.519C>A (p.Phe173Leu)
c.525C>A (p.Phe175Leu)
c.9C>A (p.Phe3Leu)
n.771C>A
1g.154571342C>GCA342630218CHRNB2c.519C>G (p.Phe173Leu)
c.525C>G (p.Phe175Leu)
c.9C>G (p.Phe3Leu)
n.771C>G
gnomAD v4
1g.154571342C>TCA421230915CHRNB2c.519C>T (p.Phe173=)
c.525C>T (p.Phe175=)
c.9C>T (p.Phe3=)
n.771C>T
1g.154571343dupCA2697554563CHRNB2c.520dup (p.Arg174ProfsTer17)
c.526dup (p.Arg176ProfsTer17)
c.10dup (p.Arg4ProfsTer17)
n.772dup
ClinVar
1g.154571343C>ACA342630220CHRNB2c.520C>A (p.Arg174Ser)
c.526C>A (p.Arg176Ser)
c.10C>A (p.Arg4Ser)
n.772C>A
1g.154571343C>GCA342630221CHRNB2c.520C>G (p.Arg174Gly)
c.526C>G (p.Arg176Gly)
c.10C>G (p.Arg4Gly)
n.772C>G
1g.154571343C>TCA342630222CHRNB2c.520C>T (p.Arg174Cys)
c.526C>T (p.Arg176Cys)
c.10C>T (p.Arg4Cys)
n.772C>T
gnomAD v4 COSMIC
1g.154571344G>ACA30834149CHRNB2c.521G>A (p.Arg174His)
c.527G>A (p.Arg176His)
c.11G>A (p.Arg4His)
n.773G>A
dbSNP
1g.154571344G>CCA342630223CHRNB2c.521G>C (p.Arg174Pro)
c.527G>C (p.Arg176Pro)
c.11G>C (p.Arg4Pro)
n.773G>C
gnomAD v4
1g.154571344G=CA2480925225CHRNB2c.521G= (p.Arg174=)
c.527G= (p.Arg176=)
c.11G= (p.Arg4=)
n.773G=
1g.154571344G>TCA342630224CHRNB2c.521G>T (p.Arg174Leu)
c.527G>T (p.Arg176Leu)
c.11G>T (p.Arg4Leu)
n.773G>T
1g.154571345T>ACA421230918CHRNB2c.522T>A (p.Arg174=)
c.528T>A (p.Arg176=)
c.12T>A (p.Arg4=)
n.774T>A
1g.154571345T>CCA421230919CHRNB2c.522T>C (p.Arg174=)
c.528T>C (p.Arg176=)
c.12T>C (p.Arg4=)
n.774T>C
1g.154571345T>GCA421230920CHRNB2c.522T>G (p.Arg174=)
c.528T>G (p.Arg176=)
c.12T>G (p.Arg4=)
n.774T>G
1g.154571346T>ACA342630225CHRNB2c.523T>A (p.Ser175Thr)
c.529T>A (p.Ser177Thr)
c.13T>A (p.Ser5Thr)
n.775T>A
1g.154571346T>CCA342630226CHRNB2c.523T>C (p.Ser175Pro)
c.529T>C (p.Ser177Pro)
c.13T>C (p.Ser5Pro)
n.775T>C
1g.154571346T>GCA342630227CHRNB2c.523T>G (p.Ser175Ala)
c.529T>G (p.Ser177Ala)
c.13T>G (p.Ser5Ala)
n.775T>G
1g.154571347C>ACA342630228CHRNB2c.524C>A (p.Ser175Ter)
c.530C>A (p.Ser177Ter)
c.14C>A (p.Ser5Ter)
n.776C>A
1g.154571347C=CA1140959566CHRNB2c.524C= (p.Ser175=)
c.530C= (p.Ser177=)
c.14C= (p.Ser5=)
n.776C=
1g.154571347C>GCA30834161CHRNB2c.524C>G (p.Ser175Trp)
c.530C>G (p.Ser177Trp)
c.14C>G (p.Ser5Trp)
n.776C>G
ClinVar dbSNP
1g.154571347C>TCA1130739CHRNB2c.524C>T (p.Ser175Leu)
c.530C>T (p.Ser177Leu)
c.14C>T (p.Ser5Leu)
n.776C>T
dbSNP ExAC gnomAD v2 gnomAD v4
1g.154571348G>ACA1130740CHRNB2c.525G>A (p.Ser175=)
c.531G>A (p.Ser177=)
c.15G>A (p.Ser5=)
n.777G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.154571348G>CCA421230925CHRNB2c.525G>C (p.Ser175=)
c.531G>C (p.Ser177=)
c.15G>C (p.Ser5=)
n.777G>C
1g.154571348G=CA2480925226CHRNB2c.525G= (p.Ser175=)
c.531G= (p.Ser177=)
c.15G= (p.Ser5=)
n.777G=
1g.154571348G>TCA421230927CHRNB2c.525G>T (p.Ser175=)
c.531G>T (p.Ser177=)
c.15G>T (p.Ser5=)
n.777G>T
1g.154571349T>ACA342630231CHRNB2c.526T>A (p.Trp176Arg)
c.532T>A (p.Trp178Arg)
c.16T>A (p.Trp6Arg)
n.778T>A
1g.154571349T>CCA342630229CHRNB2c.526T>C (p.Trp176Arg)
c.532T>C (p.Trp178Arg)
c.16T>C (p.Trp6Arg)
n.778T>C
1g.154571349T>GCA342630230CHRNB2c.526T>G (p.Trp176Gly)
c.532T>G (p.Trp178Gly)
c.16T>G (p.Trp6Gly)
n.778T>G
1g.154571350G>ACA342630232CHRNB2c.527G>A (p.Trp176Ter)
c.533G>A (p.Trp178Ter)
c.17G>A (p.Trp6Ter)
n.779G>A
1g.154571350G>CCA342630234CHRNB2c.527G>C (p.Trp176Ser)
c.533G>C (p.Trp178Ser)
c.17G>C (p.Trp6Ser)
n.779G>C
1g.154571350G>TCA342630233CHRNB2c.527G>T (p.Trp176Leu)
c.533G>T (p.Trp178Leu)
c.17G>T (p.Trp6Leu)
n.779G>T
1g.154571351G>ACA342630235CHRNB2c.528G>A (p.Trp176Ter)
c.534G>A (p.Trp178Ter)
c.18G>A (p.Trp6Ter)
n.780G>A
1g.154571351G>CCA342630236CHRNB2c.528G>C (p.Trp176Cys)
c.534G>C (p.Trp178Cys)
c.18G>C (p.Trp6Cys)
n.780G>C
1g.154571351G>TCA342630237CHRNB2c.528G>T (p.Trp176Cys)
c.534G>T (p.Trp178Cys)
c.18G>T (p.Trp6Cys)
n.780G>T
1g.154571352A>CCA342630238CHRNB2c.529A>C (p.Thr177Pro)
c.535A>C (p.Thr179Pro)
c.19A>C (p.Thr7Pro)
n.781A>C
1g.154571352A>GCA342630240CHRNB2c.529A>G (p.Thr177Ala)
c.535A>G (p.Thr179Ala)
c.19A>G (p.Thr7Ala)
n.781A>G
1g.154571352A>TCA342630241CHRNB2c.529A>T (p.Thr177Ser)
c.535A>T (p.Thr179Ser)
c.19A>T (p.Thr7Ser)
n.781A>T
1g.154571353C>ACA342630242CHRNB2c.530C>A (p.Thr177Asn)
c.536C>A (p.Thr179Asn)
c.20C>A (p.Thr7Asn)
n.782C>A
1g.154571353C>GCA342630243CHRNB2c.530C>G (p.Thr177Ser)
c.536C>G (p.Thr179Ser)
c.20C>G (p.Thr7Ser)
n.782C>G
1g.154571353C>TCA342630244CHRNB2c.530C>T (p.Thr177Ile)
c.536C>T (p.Thr179Ile)
c.20C>T (p.Thr7Ile)
n.782C>T
1g.154571354C>ACA421230929CHRNB2c.531C>A (p.Thr177=)
c.537C>A (p.Thr179=)
c.21C>A (p.Thr7=)
n.783C>A
ClinVar dbSNP
1g.154571354C>GCA421230930CHRNB2c.531C>G (p.Thr177=)
c.537C>G (p.Thr179=)
c.21C>G (p.Thr7=)
n.783C>G
1g.154571354C>TCA421230931CHRNB2c.531C>T (p.Thr177=)
c.537C>T (p.Thr179=)
c.21C>T (p.Thr7=)
n.783C>T
1g.154571355T>ACA342630245CHRNB2c.532T>A (p.Tyr178Asn)
c.538T>A (p.Tyr180Asn)
c.22T>A (p.Tyr8Asn)
n.784T>A
1g.154571355T>CCA342630246CHRNB2c.532T>C (p.Tyr178His)
c.538T>C (p.Tyr180His)
c.22T>C (p.Tyr8His)
n.784T>C
gnomAD v4
1g.154571355T>GCA342630247CHRNB2c.532T>G (p.Tyr178Asp)
c.538T>G (p.Tyr180Asp)
c.22T>G (p.Tyr8Asp)
n.784T>G
1g.154571356A>CCA342630248CHRNB2c.533A>C (p.Tyr178Ser)
c.539A>C (p.Tyr180Ser)
c.23A>C (p.Tyr8Ser)
n.785A>C
1g.154571356A>GCA342630250CHRNB2c.533A>G (p.Tyr178Cys)
c.539A>G (p.Tyr180Cys)
c.23A>G (p.Tyr8Cys)
n.785A>G
gnomAD v4
1g.154571356A>TCA342630249CHRNB2c.533A>T (p.Tyr178Phe)
c.539A>T (p.Tyr180Phe)
c.23A>T (p.Tyr8Phe)
n.785A>T
1g.154571357C>ACA342630252CHRNB2c.534C>A (p.Tyr178Ter)
c.540C>A (p.Tyr180Ter)
c.24C>A (p.Tyr8Ter)
n.786C>A
ClinVar dbSNP gnomAD v2 gnomAD v4
1g.154571357C=CA2480925227CHRNB2c.534C= (p.Tyr178=)
c.540C= (p.Tyr180=)
c.24C= (p.Tyr8=)
n.786C=
1g.154571357C>GCA342630253CHRNB2c.534C>G (p.Tyr178Ter)
c.540C>G (p.Tyr180Ter)
c.24C>G (p.Tyr8Ter)
n.786C>G
1g.154571357C>TCA421230932CHRNB2c.534C>T (p.Tyr178=)
c.540C>T (p.Tyr180=)
c.24C>T (p.Tyr8=)
n.786C>T
ClinVar dbSNP gnomAD v4
1g.154571358G>ACA1130741CHRNB2c.535G>A (p.Asp179Asn)
c.541G>A (p.Asp181Asn)
c.25G>A (p.Asp9Asn)
n.787G>A
ClinVar dbSNP ExAC gnomAD v2
1g.154571358G>CCA342630254CHRNB2c.535G>C (p.Asp179His)
c.541G>C (p.Asp181His)
c.25G>C (p.Asp9His)
n.787G>C
ClinVar gnomAD v4
1g.154571358G=CA2480925228CHRNB2c.535G= (p.Asp179=)
c.541G= (p.Asp181=)
c.25G= (p.Asp9=)
n.787G=
1g.154571358G>TCA342630255CHRNB2c.535G>T (p.Asp179Tyr)
c.541G>T (p.Asp181Tyr)
c.25G>T (p.Asp9Tyr)
n.787G>T
gnomAD v4
1g.154571359A>CCA342630256CHRNB2c.536A>C (p.Asp179Ala)
c.542A>C (p.Asp181Ala)
c.26A>C (p.Asp9Ala)
n.788A>C
1g.154571359A>GCA342630257CHRNB2c.536A>G (p.Asp179Gly)
c.542A>G (p.Asp181Gly)
c.26A>G (p.Asp9Gly)
n.788A>G
ClinVar gnomAD v4
1g.154571359A>TCA342630258CHRNB2c.536A>T (p.Asp179Val)
c.542A>T (p.Asp181Val)
c.26A>T (p.Asp9Val)
n.788A>T
1g.154571360C>ACA342630259CHRNB2c.537C>A (p.Asp179Glu)
c.543C>A (p.Asp181Glu)
c.27C>A (p.Asp9Glu)
n.789C>A
gnomAD v4
1g.154571360C>GCA342630260CHRNB2c.537C>G (p.Asp179Glu)
c.543C>G (p.Asp181Glu)
c.27C>G (p.Asp9Glu)
n.789C>G
1g.154571360C>TCA421230933CHRNB2c.537C>T (p.Asp179=)
c.543C>T (p.Asp181=)
c.27C>T (p.Asp9=)
n.789C>T
1g.154571361C>ACA342630263CHRNB2c.538C>A (p.Arg180Ser)
c.544C>A (p.Arg182Ser)
c.28C>A (p.Arg10Ser)
n.790C>A
1g.154571361C=CA2480925229CHRNB2c.538C= (p.Arg180=)
c.544C= (p.Arg182=)
c.28C= (p.Arg10=)
n.790C=
1g.154571361C>GCA342630262CHRNB2c.538C>G (p.Arg180Gly)
c.544C>G (p.Arg182Gly)
c.28C>G (p.Arg10Gly)
n.790C>G
1g.154571361C>TCA342630261CHRNB2c.538C>T (p.Arg180Cys)
c.544C>T (p.Arg182Cys)
c.28C>T (p.Arg10Cys)
n.790C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.154571362G>ACA1130743CHRNB2c.539G>A (p.Arg180His)
c.545G>A (p.Arg182His)
c.29G>A (p.Arg10His)
n.791G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.154571362G>CCA342630264CHRNB2c.539G>C (p.Arg180Pro)
c.545G>C (p.Arg182Pro)
c.29G>C (p.Arg10Pro)
n.791G>C
ClinVar dbSNP
1g.154571362G=CA2480925231CHRNB2c.539G= (p.Arg180=)
c.545G= (p.Arg182=)
c.29G= (p.Arg10=)
n.791G=
1g.154571362G>TCA342630265CHRNB2c.539G>T (p.Arg180Leu)
c.545G>T (p.Arg182Leu)
c.29G>T (p.Arg10Leu)
n.791G>T
ClinVar gnomAD v4
1g.154571362_154571364delinsGCACA2480925230CHRNB2c.539_541delinsGCA (p.Arg180=)
c.545_547delinsGCA (p.Arg182=)
c.29_31delinsGCA (p.Arg10=)
n.791_793delinsGCA
1g.154571363C>ACA421230936CHRNB2c.540C>A (p.Arg180=)
c.546C>A (p.Arg182=)
c.30C>A (p.Arg10=)
n.792C>A
1g.154571363C>GCA421230935CHRNB2c.540C>G (p.Arg180=)
c.546C>G (p.Arg182=)
c.30C>G (p.Arg10=)
n.792C>G
1g.154571363C>TCA421230934CHRNB2c.540C>T (p.Arg180=)
c.546C>T (p.Arg182=)
c.30C>T (p.Arg10=)
n.792C>T
1g.154571365_154571366delCA1130742CHRNB2c.542_543del (p.Thr181ArgfsTer9)
c.548_549del (p.Thr183ArgfsTer9)
c.32_33del (p.Thr11ArgfsTer9)
n.794_795del
dbSNP ExAC gnomAD v2 gnomAD v4
1g.154571364A>CCA342630266CHRNB2c.541A>C (p.Thr181Pro)
c.547A>C (p.Thr183Pro)
c.31A>C (p.Thr11Pro)
n.793A>C
1g.154571364A>GCA342630267CHRNB2c.541A>G (p.Thr181Ala)
c.547A>G (p.Thr183Ala)
c.31A>G (p.Thr11Ala)
n.793A>G
1g.154571364A>TCA342630268CHRNB2c.541A>T (p.Thr181Ser)
c.547A>T (p.Thr183Ser)
c.31A>T (p.Thr11Ser)
n.793A>T
1g.154571365C>ACA342630269CHRNB2c.542C>A (p.Thr181Lys)
c.548C>A (p.Thr183Lys)
c.32C>A (p.Thr11Lys)
n.794C>A
1g.154571365C>GCA342630270CHRNB2c.542C>G (p.Thr181Arg)
c.548C>G (p.Thr183Arg)
c.32C>G (p.Thr11Arg)
n.794C>G
gnomAD v4
1g.154571365C>TCA342630271CHRNB2c.542C>T (p.Thr181Ile)
c.548C>T (p.Thr183Ile)
c.32C>T (p.Thr11Ile)
n.794C>T
1g.154571366A=CA2480925233CHRNB2c.543A= (p.Thr181=)
c.549A= (p.Thr183=)
c.33A= (p.Thr11=)
n.795A=
1g.154571366A>CCA421230937CHRNB2c.543A>C (p.Thr181=)
c.549A>C (p.Thr183=)
c.33A>C (p.Thr11=)
n.795A>C
1g.154571366A>GCA421230938CHRNB2c.543A>G (p.Thr181=)
c.549A>G (p.Thr183=)
c.33A>G (p.Thr11=)
n.795A>G
dbSNP gnomAD v4
1g.154571366A>TCA421230939CHRNB2c.543A>T (p.Thr181=)
c.549A>T (p.Thr183=)
c.33A>T (p.Thr11=)
n.795A>T
1g.154571366_154571367delinsAGCA2480925232CHRNB2c.543_544delinsAG (p.Thr181=)
c.549_550delinsAG (p.Thr183=)
c.33_34delinsAG (p.Thr11=)
n.795_796delinsAG
1g.154571367delCA2480925234CHRNB2c.544del (p.Glu182ArgfsTer6)
c.550del (p.Glu184ArgfsTer6)
c.34del (p.Glu12ArgfsTer6)
n.796del
ClinVar dbSNP
1g.154571367G>ACA342630272CHRNB2c.544G>A (p.Glu182Lys)
c.550G>A (p.Glu184Lys)
c.34G>A (p.Glu12Lys)
n.796G>A
1g.154571367G>CCA342630273CHRNB2c.544G>C (p.Glu182Gln)
c.550G>C (p.Glu184Gln)
c.34G>C (p.Glu12Gln)
n.796G>C
1g.154571367G>TCA342630274CHRNB2c.544G>T (p.Glu182Ter)
c.550G>T (p.Glu184Ter)
c.34G>T (p.Glu12Ter)
n.796G>T
1g.154571368A>CCA342630277CHRNB2c.545A>C (p.Glu182Ala)
c.551A>C (p.Glu184Ala)
c.35A>C (p.Glu12Ala)
n.797A>C
1g.154571368A>GCA342630276CHRNB2c.545A>G (p.Glu182Gly)
c.551A>G (p.Glu184Gly)
c.35A>G (p.Glu12Gly)
n.797A>G
gnomAD v4
1g.154571368A>TCA342630275CHRNB2c.545A>T (p.Glu182Val)
c.551A>T (p.Glu184Val)
c.35A>T (p.Glu12Val)
n.797A>T
1g.154571369G>ACA421230940CHRNB2c.546G>A (p.Glu182=)
c.552G>A (p.Glu184=)
c.36G>A (p.Glu12=)
n.798G>A
1g.154571369G>CCA342630278CHRNB2c.546G>C (p.Glu182Asp)
c.552G>C (p.Glu184Asp)
c.36G>C (p.Glu12Asp)
n.798G>C
1g.154571369G=CA1143368780CHRNB2c.546G= (p.Glu182=)
c.552G= (p.Glu184=)
c.36G= (p.Glu12=)
n.798G=
1g.154571369G>TCA30834187CHRNB2c.546G>T (p.Glu182Asp)
c.552G>T (p.Glu184Asp)
c.36G>T (p.Glu12Asp)
n.798G>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.154571370A=CA2480925235CHRNB2c.547A= (p.Ile183=)
c.553A= (p.Ile185=)
c.37A= (p.Ile13=)
n.799A=
1g.154571370A>CCA342630279CHRNB2c.547A>C (p.Ile183Leu)
c.553A>C (p.Ile185Leu)
c.37A>C (p.Ile13Leu)
n.799A>C
1g.154571370A>GCA342630280CHRNB2c.547A>G (p.Ile183Val)
c.553A>G (p.Ile185Val)
c.37A>G (p.Ile13Val)
n.799A>G
1g.154571370A>TCA245973CHRNB2c.547A>T (p.Ile183Phe)
c.553A>T (p.Ile185Phe)
c.37A>T (p.Ile13Phe)
n.799A>T
ClinVar dbSNP gnomAD v3 gnomAD v4
1g.154571371T>ACA342630281CHRNB2c.548T>A (p.Ile183Asn)
c.554T>A (p.Ile185Asn)
c.38T>A (p.Ile13Asn)
n.800T>A
1g.154571371T>CCA342630282CHRNB2c.548T>C (p.Ile183Thr)
c.554T>C (p.Ile185Thr)
c.38T>C (p.Ile13Thr)
n.800T>C
1g.154571371T>GCA342630283CHRNB2c.548T>G (p.Ile183Ser)
c.554T>G (p.Ile185Ser)
c.38T>G (p.Ile13Ser)
n.800T>G
1g.154571372C>ACA421230941CHRNB2c.549C>A (p.Ile183=)
c.555C>A (p.Ile185=)
c.39C>A (p.Ile13=)
n.801C>A
ClinVar dbSNP gnomAD v4
1g.154571372C=CA2480925236CHRNB2c.549C= (p.Ile183=)
c.555C= (p.Ile185=)
c.39C= (p.Ile13=)
n.801C=
1g.154571372C>GCA313651CHRNB2c.549C>G (p.Ile183Met)
c.555C>G (p.Ile185Met)
c.39C>G (p.Ile13Met)
n.801C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.154571372C>TCA1130744CHRNB2c.549C>T (p.Ile183=)
c.555C>T (p.Ile185=)
c.39C>T (p.Ile13=)
n.801C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.154571373G>ACA342630287CHRNB2c.550G>A (p.Asp184Asn)
c.556G>A (p.Asp186Asn)
c.40G>A (p.Asp14Asn)
n.802G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.154571373G>CCA342630289CHRNB2c.550G>C (p.Asp184His)
c.556G>C (p.Asp186His)
c.40G>C (p.Asp14His)
n.802G>C
1g.154571373G=CA2480925237CHRNB2c.550G= (p.Asp184=)
c.556G= (p.Asp186=)
c.40G= (p.Asp14=)
n.802G=
1g.154571373G>TCA342630290CHRNB2c.550G>T (p.Asp184Tyr)
c.556G>T (p.Asp186Tyr)
c.40G>T (p.Asp14Tyr)
n.802G>T
1g.154571374A>CCA342630293CHRNB2c.551A>C (p.Asp184Ala)
c.557A>C (p.Asp186Ala)
c.41A>C (p.Asp14Ala)
n.803A>C
1g.154571374A>GCA342630295CHRNB2c.551A>G (p.Asp184Gly)
c.557A>G (p.Asp186Gly)
c.41A>G (p.Asp14Gly)
n.803A>G
1g.154571374A>TCA342630291CHRNB2c.551A>T (p.Asp184Val)
c.557A>T (p.Asp186Val)
c.41A>T (p.Asp14Val)
n.803A>T
1g.154571375C>ACA342630297CHRNB2c.552C>A (p.Asp184Glu)
c.558C>A (p.Asp186Glu)
c.42C>A (p.Asp14Glu)
n.804C>A
1g.154571375C=CA2480925238CHRNB2c.552C= (p.Asp184=)
c.558C= (p.Asp186=)
c.42C= (p.Asp14=)
n.804C=
1g.154571375C>GCA30834201CHRNB2c.552C>G (p.Asp184Glu)
c.558C>G (p.Asp186Glu)
c.42C>G (p.Asp14Glu)
n.804C>G
dbSNP gnomAD v3 gnomAD v4
1g.154571375C>TCA421230942CHRNB2c.552C>T (p.Asp184=)
c.558C>T (p.Asp186=)
c.42C>T (p.Asp14=)
n.804C>T
gnomAD v4
1g.154571376T>ACA342630302CHRNB2c.553T>A (p.Leu185Met)
c.559T>A (p.Leu187Met)
c.43T>A (p.Leu15Met)
n.805T>A
1g.154571376T>CCA421230943CHRNB2c.553T>C (p.Leu185=)
c.559T>C (p.Leu187=)
c.43T>C (p.Leu15=)
n.805T>C
dbSNP gnomAD v2
1g.154571376T>GCA342630304CHRNB2c.553T>G (p.Leu185Val)
c.559T>G (p.Leu187Val)
c.43T>G (p.Leu15Val)
n.805T>G
1g.154571376T=CA2480925239CHRNB2c.553T= (p.Leu185=)
c.559T= (p.Leu187=)
c.43T= (p.Leu15=)
n.805T=
1g.154571377T>ACA342630306CHRNB2c.554T>A (p.Leu185Ter)
c.560T>A (p.Leu187Ter)
c.44T>A (p.Leu15Ter)
n.806T>A
1g.154571377T>CCA342630307CHRNB2c.554T>C (p.Leu185Ser)
c.560T>C (p.Leu187Ser)
c.44T>C (p.Leu15Ser)
n.806T>C
ClinVar dbSNP
1g.154571377T>GCA342630308CHRNB2c.554T>G (p.Leu185Trp)
c.560T>G (p.Leu187Trp)
c.44T>G (p.Leu15Trp)
n.806T>G
1g.154571377T=CA2480925240CHRNB2c.554T= (p.Leu185=)
c.560T= (p.Leu187=)
c.44T= (p.Leu15=)
n.806T=
1g.154571378G>ACA421230944CHRNB2c.555G>A (p.Leu185=)
c.561G>A (p.Leu187=)
c.45G>A (p.Leu15=)
n.807G>A
1g.154571378G>CCA342630310CHRNB2c.555G>C (p.Leu185Phe)
c.561G>C (p.Leu187Phe)
c.45G>C (p.Leu15Phe)
n.807G>C
1g.154571378G>TCA342630313CHRNB2c.555G>T (p.Leu185Phe)
c.561G>T (p.Leu187Phe)
c.45G>T (p.Leu15Phe)
n.807G>T
1g.154571379G>ACA342630315CHRNB2c.556G>A (p.Val186Met)
c.562G>A (p.Val188Met)
c.46G>A (p.Val16Met)
n.808G>A
gnomAD v4
1g.154571379G>CCA342630317CHRNB2c.556G>C (p.Val186Leu)
c.562G>C (p.Val188Leu)
c.46G>C (p.Val16Leu)
n.808G>C
1g.154571379G>TCA342630319CHRNB2c.556G>T (p.Val186Leu)
c.562G>T (p.Val188Leu)
c.46G>T (p.Val16Leu)
n.808G>T
gnomAD v4
1g.154571380T>ACA342630321CHRNB2c.557T>A (p.Val186Glu)
c.563T>A (p.Val188Glu)
c.47T>A (p.Val16Glu)
n.809T>A
1g.154571380T>CCA342630322CHRNB2c.557T>C (p.Val186Ala)
c.563T>C (p.Val188Ala)
c.47T>C (p.Val16Ala)
n.809T>C
1g.154571380T>GCA342630324CHRNB2c.557T>G (p.Val186Gly)
c.563T>G (p.Val188Gly)
c.47T>G (p.Val16Gly)
n.809T>G
1g.154571381G>ACA421230945CHRNB2c.558G>A (p.Val186=)
c.564G>A (p.Val188=)
c.48G>A (p.Val16=)
n.810G>A
1g.154571381G>CCA421230946CHRNB2c.558G>C (p.Val186=)
c.564G>C (p.Val188=)
c.48G>C (p.Val16=)
n.810G>C
1g.154571381G>TCA421230947CHRNB2c.558G>T (p.Val186=)
c.564G>T (p.Val188=)
c.48G>T (p.Val16=)
n.810G>T
1g.154571382C>ACA342630328CHRNB2c.559C>A (p.Leu187Met)
c.565C>A (p.Leu189Met)
c.49C>A (p.Leu17Met)
n.811C>A
1g.154571382C=CA2480925241CHRNB2c.559C= (p.Leu187=)
c.565C= (p.Leu189=)
c.49C= (p.Leu17=)
n.811C=
1g.154571382C>GCA342630326CHRNB2c.559C>G (p.Leu187Val)
c.565C>G (p.Leu189Val)
c.49C>G (p.Leu17Val)
n.811C>G
1g.154571382C>TCA421230948CHRNB2c.559C>T (p.Leu187=)
c.565C>T (p.Leu189=)
c.49C>T (p.Leu17=)
n.811C>T
dbSNP gnomAD v2 gnomAD v4
1g.154571382_154571386delinsCTGAACA2480925242CHRNB2c.559_563delinsCTGAA (p.Leu187=)
c.565_569delinsCTGAA (p.Leu189=)
c.49_53delinsCTGAA (p.Leu17=)
n.811_815delinsCTGAA
1g.154571383T>ACA342630331CHRNB2c.560T>A (p.Leu187Gln)
c.566T>A (p.Leu189Gln)
c.50T>A (p.Leu17Gln)
n.812T>A
1g.154571383T>CCA342630333CHRNB2c.560T>C (p.Leu187Pro)
c.566T>C (p.Leu189Pro)
c.50T>C (p.Leu17Pro)
n.812T>C
1g.154571383T>GCA342630334CHRNB2c.560T>G (p.Leu187Arg)
c.566T>G (p.Leu189Arg)
c.50T>G (p.Leu17Arg)
n.812T>G
1g.154571383_154571386delCA2480925243CHRNB2c.560_563del (p.Leu187ArgfsTer?)
c.566_569del (p.Leu189ArgfsTer?)
c.50_53del (p.Leu17ArgfsTer?)
n.812_815del
dbSNP
1g.154571384G>ACA421230951CHRNB2c.561G>A (p.Leu187=)
c.567G>A (p.Leu189=)
c.51G>A (p.Leu17=)
n.813G>A
gnomAD v4
1g.154571384G>CCA421230949CHRNB2c.561G>C (p.Leu187=)
c.567G>C (p.Leu189=)
c.51G>C (p.Leu17=)
n.813G>C
1g.154571384G=CA2480925244CHRNB2c.561G= (p.Leu187=)
c.567G= (p.Leu189=)
c.51G= (p.Leu17=)
n.813G=
1g.154571384G>TCA421230950CHRNB2c.561G>T (p.Leu187=)
c.567G>T (p.Leu189=)
c.51G>T (p.Leu17=)
n.813G>T
1g.154571385A>CCA342630338CHRNB2c.562A>C (p.Lys188Gln)
c.568A>C (p.Lys190Gln)
c.52A>C (p.Lys18Gln)
n.814A>C
1g.154571385A>GCA342630340CHRNB2c.562A>G (p.Lys188Glu)
c.568A>G (p.Lys190Glu)
c.52A>G (p.Lys18Glu)
n.814A>G
1g.154571385A>TCA342630342CHRNB2c.562A>T (p.Lys188Ter)
c.568A>T (p.Lys190Ter)
c.52A>T (p.Lys18Ter)
n.814A>T
1g.154571386dupCA1007941553CHRNB2c.563dup (p.Ser189GlufsTer2)
c.569dup (p.Ser191GlufsTer2)
c.53dup (p.Ser19GlufsTer2)
n.815dup
dbSNP gnomAD v3 gnomAD v4
1g.154571386A>CCA342630345CHRNB2c.563A>C (p.Lys188Thr)
c.569A>C (p.Lys190Thr)
c.53A>C (p.Lys18Thr)
n.815A>C
1g.154571386A>GCA342630347CHRNB2c.563A>G (p.Lys188Arg)
c.569A>G (p.Lys190Arg)
c.53A>G (p.Lys18Arg)
n.815A>G
1g.154571386A>TCA342630349CHRNB2c.563A>T (p.Lys188Met)
c.569A>T (p.Lys190Met)
c.53A>T (p.Lys18Met)
n.815A>T
1g.154571387G>ACA421230952CHRNB2c.564G>A (p.Lys188=)
c.570G>A (p.Lys190=)
c.54G>A (p.Lys18=)
n.816G>A
gnomAD v4
1g.154571387G>CCA342630352CHRNB2c.564G>C (p.Lys188Asn)
c.570G>C (p.Lys190Asn)
c.54G>C (p.Lys18Asn)
n.816G>C
1g.154571387G>TCA342630354CHRNB2c.564G>T (p.Lys188Asn)
c.570G>T (p.Lys190Asn)
c.54G>T (p.Lys18Asn)
n.816G>T
COSMIC
1g.154571388A>CCA342630360CHRNB2c.565A>C (p.Ser189Arg)
c.571A>C (p.Ser191Arg)
c.55A>C (p.Ser19Arg)
n.817A>C
1g.154571388A>GCA342630362CHRNB2c.565A>G (p.Ser189Gly)
c.571A>G (p.Ser191Gly)
c.55A>G (p.Ser19Gly)
n.817A>G
gnomAD v4
1g.154571388A>TCA342630357CHRNB2c.565A>T (p.Ser189Cys)
c.571A>T (p.Ser191Cys)
c.55A>T (p.Ser19Cys)
n.817A>T
1g.154571389G>ACA342630365CHRNB2c.566G>A (p.Ser189Asn)
c.572G>A (p.Ser191Asn)
c.56G>A (p.Ser19Asn)
n.818G>A
1g.154571389G>CCA342630366CHRNB2c.566G>C (p.Ser189Thr)
c.572G>C (p.Ser191Thr)
c.56G>C (p.Ser19Thr)
n.818G>C
1g.154571389G>TCA342630367CHRNB2c.566G>T (p.Ser189Ile)
c.572G>T (p.Ser191Ile)
c.56G>T (p.Ser19Ile)
n.818G>T

Number of alleles fetched