Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.7455446A>CCA397801654CHRNB1c.1207A>C (p.Lys403Gln)
c.991A>C (p.Lys331Gln)
c.870A>C
n.2151A>C
c.844A>C (p.Lys282Gln)
17g.7455446A>GCA397801665CHRNB1c.1207A>G (p.Lys403Glu)
c.991A>G (p.Lys331Glu)
c.870A>G
n.2151A>G
c.844A>G (p.Lys282Glu)
 gnomAD v4
17g.7455446A>TCA397801668CHRNB1c.1207A>T (p.Lys403Ter)
c.991A>T (p.Lys331Ter)
c.870A>T
n.2151A>T
c.844A>T (p.Lys282Ter)
17g.7455447A>CCA397801669CHRNB1c.1208A>C (p.Lys403Thr)
c.992A>C (p.Lys331Thr)
c.871A>C
n.2152A>C
c.845A>C (p.Lys282Thr)
17g.7455447A>GCA397801671CHRNB1c.1208A>G (p.Lys403Arg)
c.992A>G (p.Lys331Arg)
c.871A>G
n.2152A>G
c.845A>G (p.Lys282Arg)
17g.7455447A>TCA397801672CHRNB1c.1208A>T (p.Lys403Ile)
c.992A>T (p.Lys331Ile)
c.871A>T
n.2152A>T
c.845A>T (p.Lys282Ile)
17g.7455448A>CCA397801678CHRNB1c.1209A>C (p.Lys403Asn)
c.993A>C (p.Lys331Asn)
c.872A>C
n.2153A>C
c.846A>C (p.Lys282Asn)
17g.7455448A>GCA497744852CHRNB1c.1209A>G (p.Lys403=)
c.993A>G (p.Lys331=)
c.872A>G
n.2153A>G
c.846A>G (p.Lys282=)
17g.7455448A>TCA397801683CHRNB1c.1209A>T (p.Lys403Asn)
c.993A>T (p.Lys331Asn)
c.872A>T
n.2153A>T
c.846A>T (p.Lys282Asn)
17g.7455449_7455450insACACCA2808375273CHRNB1c.1210_1211insACAC (p.Pro404HisfsTer4)
c.994_995insACAC (p.Pro332HisfsTer4)
c.873_874insACAC
n.2154_2155insACAC
c.847_848insACAC (p.Pro283HisfsTer4)
17g.7455449C>ACA397801691CHRNB1c.1210C>A (p.Pro404Thr)
c.994C>A (p.Pro332Thr)
c.873C>A
n.2154C>A
c.847C>A (p.Pro283Thr)
 gnomAD v4
17g.7455449C=CA2245822335CHRNB1c.1210C= (p.Pro404=)
c.994C= (p.Pro332=)
c.873C=
n.2154C=
c.847C= (p.Pro283=)
17g.7455449C>GCA397801711CHRNB1c.1210C>G (p.Pro404Ala)
c.994C>G (p.Pro332Ala)
c.873C>G
n.2154C>G
c.847C>G (p.Pro283Ala)
 gnomAD v4
17g.7455449C>TCA397801713CHRNB1c.1210C>T (p.Pro404Ser)
c.994C>T (p.Pro332Ser)
c.873C>T
n.2154C>T
c.847C>T (p.Pro283Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.7455450C>ACA397801717CHRNB1c.1211C>A (p.Pro404His)
c.995C>A (p.Pro332His)
c.874C>A
n.2155C>A
c.848C>A (p.Pro283His)
17g.7455450C>GCA397801723CHRNB1c.1211C>G (p.Pro404Arg)
c.995C>G (p.Pro332Arg)
c.874C>G
n.2155C>G
c.848C>G (p.Pro283Arg)
17g.7455450C>TCA397801719CHRNB1c.1211C>T (p.Pro404Leu)
c.995C>T (p.Pro332Leu)
c.874C>T
n.2155C>T
c.848C>T (p.Pro283Leu)
17g.7455451C>ACA497744854CHRNB1c.1212C>A (p.Pro404=)
c.996C>A (p.Pro332=)
c.875C>A
n.2156C>A
c.849C>A (p.Pro283=)
17g.7455451C=CA2245822336CHRNB1c.1212C= (p.Pro404=)
c.996C= (p.Pro332=)
c.875C=
n.2156C=
c.849C= (p.Pro283=)
17g.7455451C>GCA497744855CHRNB1c.1212C>G (p.Pro404=)
c.996C>G (p.Pro332=)
c.875C>G
n.2156C>G
c.849C>G (p.Pro283=)
17g.7455451C>TCA8347994CHRNB1c.1212C>T (p.Pro404=)
c.996C>T (p.Pro332=)
c.875C>T
n.2156C>T
c.849C>T (p.Pro283=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.7455452A=CA2245822337CHRNB1c.1213A= (p.Asn405=)
c.997A= (p.Asn333=)
c.876A=
n.2157A=
c.850A= (p.Asn284=)
17g.7455452A>CCA397801749CHRNB1c.1213A>C (p.Asn405His)
c.997A>C (p.Asn333His)
c.876A>C
n.2157A>C
c.850A>C (p.Asn284His)
17g.7455452A>GCA397801729CHRNB1c.1213A>G (p.Asn405Asp)
c.997A>G (p.Asn333Asp)
c.876A>G
n.2157A>G
c.850A>G (p.Asn284Asp)
 dbSNP gnomAD v3 gnomAD v4
17g.7455452A>TCA397801745CHRNB1c.1213A>T (p.Asn405Tyr)
c.997A>T (p.Asn333Tyr)
c.876A>T
n.2157A>T
c.850A>T (p.Asn284Tyr)
 dbSNP
17g.7455453dupCA2590159195CHRNB1c.1214dup (p.Asn405LysfsTer2)
c.998dup (p.Asn333LysfsTer2)
c.877dup
n.2158dup
c.851dup (p.Asn284LysfsTer2)
 gnomAD v3 gnomAD v4
17g.7455453A>CCA397801759CHRNB1c.1214A>C (p.Asn405Thr)
c.998A>C (p.Asn333Thr)
c.877A>C
n.2158A>C
c.851A>C (p.Asn284Thr)
17g.7455453A>GCA397801761CHRNB1c.1214A>G (p.Asn405Ser)
c.998A>G (p.Asn333Ser)
c.877A>G
n.2158A>G
c.851A>G (p.Asn284Ser)
17g.7455453A>TCA397801768CHRNB1c.1214A>T (p.Asn405Ile)
c.998A>T (p.Asn333Ile)
c.877A>T
n.2158A>T
c.851A>T (p.Asn284Ile)
17g.7455453_7455454insCACACA2808375275CHRNB1c.1214_1215insCACA (p.Arg406ThrfsTer2)
c.998_999insCACA (p.Arg334ThrfsTer2)
c.877_878insCACA
n.2158_2159insCACA
c.851_852insCACA (p.Arg285ThrfsTer2)
17g.7455453_7455454insACCAAACACACCCAACACACA2808375274CHRNB1c.1214_1215insACCAAACACACCCAACACA (p.Asn405LysfsTer8)
c.998_999insACCAAACACACCCAACACA (p.Asn333LysfsTer8)
c.877_878insACCAAACACACCCAACACA
n.2158_2159insACCAAACACACCCAACACA
c.851_852insACCAAACACACCCAACACA (p.Asn284LysfsTer8)
17g.7455454T>ACA397801772CHRNB1c.1215T>A (p.Asn405Lys)
c.999T>A (p.Asn333Lys)
c.878T>A
n.2159T>A
c.852T>A (p.Asn284Lys)
17g.7455454T>CCA8347995CHRNB1c.1215T>C (p.Asn405=)
c.999T>C (p.Asn333=)
c.878T>C
n.2159T>C
c.852T>C (p.Asn284=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.7455454T>GCA397801778CHRNB1c.1215T>G (p.Asn405Lys)
c.999T>G (p.Asn333Lys)
c.878T>G
n.2159T>G
c.852T>G (p.Asn284Lys)
 gnomAD v3 gnomAD v4
17g.7455454T=CA2245822338CHRNB1c.1215T= (p.Asn405=)
c.999T= (p.Asn333=)
c.878T=
n.2159T=
c.852T= (p.Asn284=)
17g.7455455A>CCA497744857CHRNB1c.1216A>C (p.Arg406=)
c.1000A>C (p.Arg334=)
c.879A>C
n.2160A>C
c.853A>C (p.Arg285=)
17g.7455455A>GCA397801781CHRNB1c.1216A>G (p.Arg406Gly)
c.1000A>G (p.Arg334Gly)
c.879A>G
n.2160A>G
c.853A>G (p.Arg285Gly)
 gnomAD v4
17g.7455455A>TCA397801783CHRNB1c.1216A>T (p.Arg406Trp)
c.1000A>T (p.Arg334Trp)
c.879A>T
n.2160A>T
c.853A>T (p.Arg285Trp)
17g.7455456G>ACA397801787CHRNB1c.1217G>A (p.Arg406Lys)
c.1001G>A (p.Arg334Lys)
c.880G>A
n.2161G>A
c.854G>A (p.Arg285Lys)
17g.7455456G>CCA397801794CHRNB1c.1217G>C (p.Arg406Thr)
c.1001G>C (p.Arg334Thr)
c.880G>C
n.2161G>C
c.854G>C (p.Arg285Thr)
17g.7455456G>TCA397801796CHRNB1c.1217G>T (p.Arg406Met)
c.1001G>T (p.Arg334Met)
c.880G>T
n.2161G>T
c.854G>T (p.Arg285Met)
 gnomAD v4
17g.7455457G>ACA8347996CHRNB1c.1217+1G>A (n.1217+1G>A)
c.1001+1G>A (n.1001+1G>A)
c.880+1G>A
n.2162G>A
c.854+1G>A (n.854+1G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.7455457G>CCA397801804CHRNB1c.1217+1G>C (n.1217+1G>C)
c.1001+1G>C (n.1001+1G>C)
c.880+1G>C
n.2162G>C
c.854+1G>C (n.854+1G>C)
17g.7455457G=CA2245822339CHRNB1c.1217+1G= (n.1217+1G=)
c.1001+1G= (n.1001+1G=)
c.880+1G=
n.2162G=
c.854+1G= (n.854+1G=)
17g.7455457G>TCA397801800CHRNB1c.1217+1G>T (n.1217+1G>T)
c.1001+1G>T (n.1001+1G>T)
c.880+1G>T
n.2162G>T
c.854+1G>T (n.854+1G>T)
17g.7455458T>ACA397801810CHRNB1c.1217+2T>A (n.1217+2T>A)
c.1001+2T>A (n.1001+2T>A)
c.880+2T>A
n.2163T>A
c.854+2T>A (n.854+2T>A)
17g.7455458T>CCA397801837CHRNB1c.1217+2T>C (n.1217+2T>C)
c.1001+2T>C (n.1001+2T>C)
c.880+2T>C
n.2163T>C
c.854+2T>C (n.854+2T>C)
17g.7455458T>GCA397801839CHRNB1c.1217+2T>G (n.1217+2T>G)
c.1001+2T>G (n.1001+2T>G)
c.880+2T>G
n.2163T>G
c.854+2T>G (n.854+2T>G)
17g.7455458_7455460delinsTAGCA2245822340CHRNB1c.1217+2_1217+4delinsTAG (n.1217+2_1217+4delinsTAG)
c.1001+2_1001+4delinsTAG (n.1001+2_1001+4delinsTAG)
c.880+2_880+4delinsTAG
n.2163_2165delinsTAG
c.854+2_854+4delinsTAG (n.854+2_854+4delinsTAG)
17g.7455458_7455462delinsTAGGACA2245822341CHRNB1c.1217+2_1217+6delinsTAGGA (n.1217+2_1217+6delinsTAGGA)
c.1001+2_1001+6delinsTAGGA (n.1001+2_1001+6delinsTAGGA)
c.880+2_880+6delinsTAGGA
n.2163_2167delinsTAGGA
c.854+2_854+6delinsTAGGA (n.854+2_854+6delinsTAGGA)

Number of alleles fetched