Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.154571418C>ACA342630432CHRNB2c.595C>A (p.Pro199Thr)
c.601C>A (p.Pro201Thr)
c.85C>A (p.Pro29Thr)
n.847C>A
1g.154571418C>GCA342630433CHRNB2c.595C>G (p.Pro199Ala)
c.601C>G (p.Pro201Ala)
c.85C>G (p.Pro29Ala)
n.847C>G
1g.154571418C>TCA342630434CHRNB2c.595C>T (p.Pro199Ser)
c.601C>T (p.Pro201Ser)
c.85C>T (p.Pro29Ser)
n.847C>T
1g.154571419C>ACA342630436CHRNB2c.596C>A (p.Pro199His)
c.602C>A (p.Pro201His)
c.86C>A (p.Pro29His)
n.848C>A
1g.154571419C>GCA342630437CHRNB2c.596C>G (p.Pro199Arg)
c.602C>G (p.Pro201Arg)
c.86C>G (p.Pro29Arg)
n.848C>G
1g.154571419C>TCA342630435CHRNB2c.596C>T (p.Pro199Leu)
c.602C>T (p.Pro201Leu)
c.86C>T (p.Pro29Leu)
n.848C>T
1g.154571420T>ACA421231061CHRNB2c.597T>A (p.Pro199=)
c.603T>A (p.Pro201=)
c.87T>A (p.Pro29=)
n.849T>A
1g.154571420T>CCA421231063CHRNB2c.597T>C (p.Pro199=)
c.603T>C (p.Pro201=)
c.87T>C (p.Pro29=)
n.849T>C
1g.154571420T>GCA421231064CHRNB2c.597T>G (p.Pro199=)
c.603T>G (p.Pro201=)
c.87T>G (p.Pro29=)
n.849T>G
1g.154571421A>CCA342630438CHRNB2c.598A>C (p.Ser200Arg)
c.604A>C (p.Ser202Arg)
c.88A>C (p.Ser30Arg)
n.850A>C
1g.154571421A>GCA342630439CHRNB2c.598A>G (p.Ser200Gly)
c.604A>G (p.Ser202Gly)
c.88A>G (p.Ser30Gly)
n.850A>G
1g.154571421A>TCA342630440CHRNB2c.598A>T (p.Ser200Cys)
c.604A>T (p.Ser202Cys)
c.88A>T (p.Ser30Cys)
n.850A>T
1g.154571422G>ACA342630441CHRNB2c.599G>A (p.Ser200Asn)
c.605G>A (p.Ser202Asn)
c.89G>A (p.Ser30Asn)
n.851G>A
ClinVar dbSNP gnomAD v4
1g.154571422G>CCA1130747CHRNB2c.599G>C (p.Ser200Thr)
c.605G>C (p.Ser202Thr)
c.89G>C (p.Ser30Thr)
n.851G>C
dbSNP ExAC gnomAD v2 gnomAD v4
1g.154571422G=CA2480925249CHRNB2c.599G= (p.Ser200=)
c.605G= (p.Ser202=)
c.89G= (p.Ser30=)
n.851G=
1g.154571422G>TCA342630442CHRNB2c.599G>T (p.Ser200Ile)
c.605G>T (p.Ser202Ile)
c.89G>T (p.Ser30Ile)
n.851G>T
1g.154571423T>ACA342630444CHRNB2c.600T>A (p.Ser200Arg)
c.606T>A (p.Ser202Arg)
c.90T>A (p.Ser30Arg)
n.852T>A
1g.154571423T>CCA421231071CHRNB2c.600T>C (p.Ser200=)
c.606T>C (p.Ser202=)
c.90T>C (p.Ser30=)
n.852T>C
dbSNP gnomAD v4
1g.154571423T>GCA342630443CHRNB2c.600T>G (p.Ser200Arg)
c.606T>G (p.Ser202Arg)
c.90T>G (p.Ser30Arg)
n.852T>G
1g.154571424G>ACA342630445CHRNB2c.601G>A (p.Gly201Ser)
c.607G>A (p.Gly203Ser)
c.91G>A (p.Gly31Ser)
n.853G>A
1g.154571424G>CCA342630446CHRNB2c.601G>C (p.Gly201Arg)
c.607G>C (p.Gly203Arg)
c.91G>C (p.Gly31Arg)
n.853G>C
1g.154571424G>TCA342630447CHRNB2c.601G>T (p.Gly201Cys)
c.607G>T (p.Gly203Cys)
c.91G>T (p.Gly31Cys)
n.853G>T
1g.154571425G>ACA1130748CHRNB2c.602G>A (p.Gly201Asp)
c.608G>A (p.Gly203Asp)
c.92G>A (p.Gly31Asp)
n.854G>A
dbSNP ExAC gnomAD v2 gnomAD v4
1g.154571425G>CCA342630448CHRNB2c.602G>C (p.Gly201Ala)
c.608G>C (p.Gly203Ala)
c.92G>C (p.Gly31Ala)
n.854G>C
1g.154571425G=CA2480925250CHRNB2c.602G= (p.Gly201=)
c.608G= (p.Gly203=)
c.92G= (p.Gly31=)
n.854G=
1g.154571425G>TCA342630449CHRNB2c.602G>T (p.Gly201Val)
c.608G>T (p.Gly203Val)
c.92G>T (p.Gly31Val)
n.854G>T
1g.154571426T>ACA421231078CHRNB2c.603T>A (p.Gly201=)
c.609T>A (p.Gly203=)
c.93T>A (p.Gly31=)
n.855T>A
1g.154571426T>CCA421231081CHRNB2c.603T>C (p.Gly201=)
c.609T>C (p.Gly203=)
c.93T>C (p.Gly31=)
n.855T>C
COSMIC
1g.154571426T>GCA421231082CHRNB2c.603T>G (p.Gly201=)
c.609T>G (p.Gly203=)
c.93T>G (p.Gly31=)
n.855T>G
1g.154571427G>ACA342630452CHRNB2c.604G>A (p.Glu202Lys)
c.610G>A (p.Glu204Lys)
c.94G>A (p.Glu32Lys)
n.856G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.154571427G>CCA342630451CHRNB2c.604G>C (p.Glu202Gln)
c.610G>C (p.Glu204Gln)
c.94G>C (p.Glu32Gln)
n.856G>C
1g.154571427G=CA2480925251CHRNB2c.604G= (p.Glu202=)
c.610G= (p.Glu204=)
c.94G= (p.Glu32=)
n.856G=
1g.154571427G>TCA342630450CHRNB2c.604G>T (p.Glu202Ter)
c.610G>T (p.Glu204Ter)
c.94G>T (p.Glu32Ter)
n.856G>T
1g.154571428A>CCA342630453CHRNB2c.605A>C (p.Glu202Ala)
c.611A>C (p.Glu204Ala)
c.95A>C (p.Glu32Ala)
n.857A>C
1g.154571428A>GCA342630455CHRNB2c.605A>G (p.Glu202Gly)
c.611A>G (p.Glu204Gly)
c.95A>G (p.Glu32Gly)
n.857A>G
gnomAD v4
1g.154571428A>TCA342630454CHRNB2c.605A>T (p.Glu202Val)
c.611A>T (p.Glu204Val)
c.95A>T (p.Glu32Val)
n.857A>T
1g.154571429G>ACA421231083CHRNB2c.606G>A (p.Glu202=)
c.612G>A (p.Glu204=)
c.96G>A (p.Glu32=)
n.858G>A
1g.154571429G>CCA342630456CHRNB2c.606G>C (p.Glu202Asp)
c.612G>C (p.Glu204Asp)
c.96G>C (p.Glu32Asp)
n.858G>C
dbSNP gnomAD v3 gnomAD v4
1g.154571429G=CA2480925252CHRNB2c.606G= (p.Glu202=)
c.612G= (p.Glu204=)
c.96G= (p.Glu32=)
n.858G=
1g.154571429G>TCA342630457CHRNB2c.606G>T (p.Glu202Asp)
c.612G>T (p.Glu204Asp)
c.96G>T (p.Glu32Asp)
n.858G>T
1g.154571430T>ACA342630458CHRNB2c.607T>A (p.Trp203Arg)
c.613T>A (p.Trp205Arg)
c.97T>A (p.Trp33Arg)
n.859T>A
1g.154571430T>CCA342630460CHRNB2c.607T>C (p.Trp203Arg)
c.613T>C (p.Trp205Arg)
c.97T>C (p.Trp33Arg)
n.859T>C
1g.154571430T>GCA342630459CHRNB2c.607T>G (p.Trp203Gly)
c.613T>G (p.Trp205Gly)
c.97T>G (p.Trp33Gly)
n.859T>G
1g.154571431G>ACA342630461CHRNB2c.608G>A (p.Trp203Ter)
c.614G>A (p.Trp205Ter)
c.98G>A (p.Trp33Ter)
n.860G>A
gnomAD v4
1g.154571431G>CCA342630462CHRNB2c.608G>C (p.Trp203Ser)
c.614G>C (p.Trp205Ser)
c.98G>C (p.Trp33Ser)
n.860G>C
1g.154571431G>TCA342630463CHRNB2c.608G>T (p.Trp203Leu)
c.614G>T (p.Trp205Leu)
c.98G>T (p.Trp33Leu)
n.860G>T
1g.154571432G>ACA342630464CHRNB2c.609G>A (p.Trp203Ter)
c.615G>A (p.Trp205Ter)
c.99G>A (p.Trp33Ter)
n.861G>A
1g.154571432G>CCA342630465CHRNB2c.609G>C (p.Trp203Cys)
c.615G>C (p.Trp205Cys)
c.99G>C (p.Trp33Cys)
n.861G>C
1g.154571432G>TCA342630466CHRNB2c.609G>T (p.Trp203Cys)
c.615G>T (p.Trp205Cys)
c.99G>T (p.Trp33Cys)
n.861G>T
1g.154571433G>ACA342630467CHRNB2c.610G>A (p.Asp204Asn)
c.616G>A (p.Asp206Asn)
c.100G>A (p.Asp34Asn)
n.862G>A

Number of alleles fetched