Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
1g.154571390T>ACA342630368CHRNB2c.567T>A (p.Ser189Arg)
c.573T>A (p.Ser191Arg)
c.57T>A (p.Ser19Arg)
n.819T>A
1g.154571390T>CCA421230954CHRNB2c.567T>C (p.Ser189=)
c.573T>C (p.Ser191=)
c.57T>C (p.Ser19=)
n.819T>C
1g.154571390T>GCA342630369CHRNB2c.567T>G (p.Ser189Arg)
c.573T>G (p.Ser191Arg)
c.57T>G (p.Ser19Arg)
n.819T>G
1g.154571391G>ACA342630372CHRNB2c.568G>A (p.Glu190Lys)
c.574G>A (p.Glu192Lys)
c.58G>A (p.Glu20Lys)
n.820G>A
1g.154571391G>CCA342630370CHRNB2c.568G>C (p.Glu190Gln)
c.574G>C (p.Glu192Gln)
c.58G>C (p.Glu20Gln)
n.820G>C
1g.154571391G=CA2480925245CHRNB2c.568G= (p.Glu190=)
c.574G= (p.Glu192=)
c.58G= (p.Glu20=)
n.820G=
1g.154571391G>TCA342630371CHRNB2c.568G>T (p.Glu190Ter)
c.574G>T (p.Glu192Ter)
c.58G>T (p.Glu20Ter)
n.820G>T
 dbSNP gnomAD v2 gnomAD v4
1g.154571392A>CCA342630373CHRNB2c.569A>C (p.Glu190Ala)
c.575A>C (p.Glu192Ala)
c.59A>C (p.Glu20Ala)
n.821A>C
1g.154571392A>GCA342630374CHRNB2c.569A>G (p.Glu190Gly)
c.575A>G (p.Glu192Gly)
c.59A>G (p.Glu20Gly)
n.821A>G
1g.154571392A>TCA342630375CHRNB2c.569A>T (p.Glu190Val)
c.575A>T (p.Glu192Val)
c.59A>T (p.Glu20Val)
n.821A>T
1g.154571393G>ACA421231004CHRNB2c.570G>A (p.Glu190=)
c.576G>A (p.Glu192=)
c.60G>A (p.Glu20=)
n.822G>A
 gnomAD v4
1g.154571393G>CCA342630376CHRNB2c.570G>C (p.Glu190Asp)
c.576G>C (p.Glu192Asp)
c.60G>C (p.Glu20Asp)
n.822G>C
1g.154571393G>TCA342630377CHRNB2c.570G>T (p.Glu190Asp)
c.576G>T (p.Glu192Asp)
c.60G>T (p.Glu20Asp)
n.822G>T
 COSMIC
1g.154571394G>ACA342630378CHRNB2c.571G>A (p.Val191Met)
c.577G>A (p.Val193Met)
c.61G>A (p.Val21Met)
n.823G>A
1g.154571394G>CCA342630380CHRNB2c.571G>C (p.Val191Leu)
c.577G>C (p.Val193Leu)
c.61G>C (p.Val21Leu)
n.823G>C
1g.154571394G>TCA342630379CHRNB2c.571G>T (p.Val191Leu)
c.577G>T (p.Val193Leu)
c.61G>T (p.Val21Leu)
n.823G>T
 ClinVar dbSNP
1g.154571395T>ACA342630381CHRNB2c.572T>A (p.Val191Glu)
c.578T>A (p.Val193Glu)
c.62T>A (p.Val21Glu)
n.824T>A
1g.154571395T>CCA342630382CHRNB2c.572T>C (p.Val191Ala)
c.578T>C (p.Val193Ala)
c.62T>C (p.Val21Ala)
n.824T>C
1g.154571395T>GCA342630383CHRNB2c.572T>G (p.Val191Gly)
c.578T>G (p.Val193Gly)
c.62T>G (p.Val21Gly)
n.824T>G
1g.154571396G>ACA421231006CHRNB2c.573G>A (p.Val191=)
c.579G>A (p.Val193=)
c.63G>A (p.Val21=)
n.825G>A
1g.154571396G>CCA421231008CHRNB2c.573G>C (p.Val191=)
c.579G>C (p.Val193=)
c.63G>C (p.Val21=)
n.825G>C
1g.154571396G>TCA421231009CHRNB2c.573G>T (p.Val191=)
c.579G>T (p.Val193=)
c.63G>T (p.Val21=)
n.825G>T
1g.154571397delCA2648169931CHRNB2c.574del (p.Ala192ProfsTer?)
c.580del (p.Ala194ProfsTer?)
c.64del (p.Ala22ProfsTer?)
n.826del
 gnomAD v4
1g.154571397G>ACA342630384CHRNB2c.574G>A (p.Ala192Thr)
c.580G>A (p.Ala194Thr)
c.64G>A (p.Ala22Thr)
n.826G>A
1g.154571397G>CCA342630385CHRNB2c.574G>C (p.Ala192Pro)
c.580G>C (p.Ala194Pro)
c.64G>C (p.Ala22Pro)
n.826G>C
1g.154571397G>TCA342630386CHRNB2c.574G>T (p.Ala192Ser)
c.580G>T (p.Ala194Ser)
c.64G>T (p.Ala22Ser)
n.826G>T
1g.154571398C>ACA342630387CHRNB2c.575C>A (p.Ala192Asp)
c.581C>A (p.Ala194Asp)
c.65C>A (p.Ala22Asp)
n.827C>A
1g.154571398C>GCA342630388CHRNB2c.575C>G (p.Ala192Gly)
c.581C>G (p.Ala194Gly)
c.65C>G (p.Ala22Gly)
n.827C>G
 gnomAD v4
1g.154571398C>TCA342630389CHRNB2c.575C>T (p.Ala192Val)
c.581C>T (p.Ala194Val)
c.65C>T (p.Ala22Val)
n.827C>T
1g.154571399C>ACA421231013CHRNB2c.576C>A (p.Ala192=)
c.582C>A (p.Ala194=)
c.66C>A (p.Ala22=)
n.828C>A
1g.154571399C>GCA421231014CHRNB2c.576C>G (p.Ala192=)
c.582C>G (p.Ala194=)
c.66C>G (p.Ala22=)
n.828C>G
1g.154571399C>TCA421231015CHRNB2c.576C>T (p.Ala192=)
c.582C>T (p.Ala194=)
c.66C>T (p.Ala22=)
n.828C>T
 gnomAD v4
1g.154571400A>CCA342630390CHRNB2c.577A>C (p.Ser193Arg)
c.583A>C (p.Ser195Arg)
c.67A>C (p.Ser23Arg)
n.829A>C
1g.154571400A>GCA342630391CHRNB2c.577A>G (p.Ser193Gly)
c.583A>G (p.Ser195Gly)
c.67A>G (p.Ser23Gly)
n.829A>G
 gnomAD v4
1g.154571400A>TCA342630392CHRNB2c.577A>T (p.Ser193Cys)
c.583A>T (p.Ser195Cys)
c.67A>T (p.Ser23Cys)
n.829A>T
 gnomAD v4
1g.154571401G>ACA342630394CHRNB2c.578G>A (p.Ser193Asn)
c.584G>A (p.Ser195Asn)
c.68G>A (p.Ser23Asn)
n.830G>A
1g.154571401G>CCA342630395CHRNB2c.578G>C (p.Ser193Thr)
c.584G>C (p.Ser195Thr)
c.68G>C (p.Ser23Thr)
n.830G>C
1g.154571401G>TCA342630393CHRNB2c.578G>T (p.Ser193Ile)
c.584G>T (p.Ser195Ile)
c.68G>T (p.Ser23Ile)
n.830G>T
 ClinVar dbSNP
1g.154571402C>ACA342630397CHRNB2c.579C>A (p.Ser193Arg)
c.585C>A (p.Ser195Arg)
c.69C>A (p.Ser23Arg)
n.831C>A
1g.154571402C>GCA342630396CHRNB2c.579C>G (p.Ser193Arg)
c.585C>G (p.Ser195Arg)
c.69C>G (p.Ser23Arg)
n.831C>G
1g.154571402C>TCA421231022CHRNB2c.579C>T (p.Ser193=)
c.585C>T (p.Ser195=)
c.69C>T (p.Ser23=)
n.831C>T
1g.154571403C>ACA342630398CHRNB2c.580C>A (p.Leu194Met)
c.586C>A (p.Leu196Met)
c.70C>A (p.Leu24Met)
n.832C>A
 COSMIC
1g.154571403C=CA2480925246CHRNB2c.580C= (p.Leu194=)
c.586C= (p.Leu196=)
c.70C= (p.Leu24=)
n.832C=
1g.154571403C>GCA342630399CHRNB2c.580C>G (p.Leu194Val)
c.586C>G (p.Leu196Val)
c.70C>G (p.Leu24Val)
n.832C>G
 dbSNP
1g.154571403C>TCA421231025CHRNB2c.580C>T (p.Leu194=)
c.586C>T (p.Leu196=)
c.70C>T (p.Leu24=)
n.832C>T
 gnomAD v4
1g.154571404T>ACA342630400CHRNB2c.581T>A (p.Leu194Gln)
c.587T>A (p.Leu196Gln)
c.71T>A (p.Leu24Gln)
n.833T>A
1g.154571404T>CCA342630401CHRNB2c.581T>C (p.Leu194Pro)
c.587T>C (p.Leu196Pro)
c.71T>C (p.Leu24Pro)
n.833T>C
1g.154571404T>GCA342630402CHRNB2c.581T>G (p.Leu194Arg)
c.587T>G (p.Leu196Arg)
c.71T>G (p.Leu24Arg)
n.833T>G
1g.154571405G>ACA421231026CHRNB2c.582G>A (p.Leu194=)
c.588G>A (p.Leu196=)
c.72G>A (p.Leu24=)
n.834G>A
1g.154571405G>CCA421231027CHRNB2c.582G>C (p.Leu194=)
c.588G>C (p.Leu196=)
c.72G>C (p.Leu24=)
n.834G>C
1g.154571405G>TCA421231029CHRNB2c.582G>T (p.Leu194=)
c.588G>T (p.Leu196=)
c.72G>T (p.Leu24=)
n.834G>T
1g.154571406G>ACA342630403CHRNB2c.583G>A (p.Asp195Asn)
c.589G>A (p.Asp197Asn)
c.73G>A (p.Asp25Asn)
n.835G>A
1g.154571406G>CCA342630404CHRNB2c.583G>C (p.Asp195His)
c.589G>C (p.Asp197His)
c.73G>C (p.Asp25His)
n.835G>C
1g.154571406G>TCA342630405CHRNB2c.583G>T (p.Asp195Tyr)
c.589G>T (p.Asp197Tyr)
c.73G>T (p.Asp25Tyr)
n.835G>T
1g.154571409_154571411delCA2573914294CHRNB2c.586_588del (p.Asp196del)
c.592_594del (p.Asp198del)
c.76_78del (p.Asp26del)
n.838_840del
1g.154571407A>CCA342630406CHRNB2c.584A>C (p.Asp195Ala)
c.590A>C (p.Asp197Ala)
c.74A>C (p.Asp25Ala)
n.836A>C
1g.154571407A>GCA342630407CHRNB2c.584A>G (p.Asp195Gly)
c.590A>G (p.Asp197Gly)
c.74A>G (p.Asp25Gly)
n.836A>G
1g.154571407A>TCA342630408CHRNB2c.584A>T (p.Asp195Val)
c.590A>T (p.Asp197Val)
c.74A>T (p.Asp25Val)
n.836A>T
1g.154571408C>ACA342630410CHRNB2c.585C>A (p.Asp195Glu)
c.591C>A (p.Asp197Glu)
c.75C>A (p.Asp25Glu)
n.837C>A
1g.154571408C=CA2480925247CHRNB2c.585C= (p.Asp195=)
c.591C= (p.Asp197=)
c.75C= (p.Asp25=)
n.837C=
1g.154571408C>GCA342630409CHRNB2c.585C>G (p.Asp195Glu)
c.591C>G (p.Asp197Glu)
c.75C>G (p.Asp25Glu)
n.837C>G
1g.154571408C>TCA1130745CHRNB2c.585C>T (p.Asp195=)
c.591C>T (p.Asp197=)
c.75C>T (p.Asp25=)
n.837C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.154571409G>ACA342630411CHRNB2c.586G>A (p.Asp196Asn)
c.592G>A (p.Asp198Asn)
c.76G>A (p.Asp26Asn)
n.838G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC
1g.154571409G>CCA342630412CHRNB2c.586G>C (p.Asp196His)
c.592G>C (p.Asp198His)
c.76G>C (p.Asp26His)
n.838G>C
1g.154571409G=CA2480925248CHRNB2c.586G= (p.Asp196=)
c.592G= (p.Asp198=)
c.76G= (p.Asp26=)
n.838G=
1g.154571409G>TCA342630413CHRNB2c.586G>T (p.Asp196Tyr)
c.592G>T (p.Asp198Tyr)
c.76G>T (p.Asp26Tyr)
n.838G>T
 COSMIC
1g.154571410A>CCA342630414CHRNB2c.587A>C (p.Asp196Ala)
c.593A>C (p.Asp198Ala)
c.77A>C (p.Asp26Ala)
n.839A>C
1g.154571410A>GCA342630415CHRNB2c.587A>G (p.Asp196Gly)
c.593A>G (p.Asp198Gly)
c.77A>G (p.Asp26Gly)
n.839A>G
1g.154571410A>TCA342630416CHRNB2c.587A>T (p.Asp196Val)
c.593A>T (p.Asp198Val)
c.77A>T (p.Asp26Val)
n.839A>T
1g.154571411C>ACA342630417CHRNB2c.588C>A (p.Asp196Glu)
c.594C>A (p.Asp198Glu)
c.78C>A (p.Asp26Glu)
n.840C>A
1g.154571411C>GCA342630418CHRNB2c.588C>G (p.Asp196Glu)
c.594C>G (p.Asp198Glu)
c.78C>G (p.Asp26Glu)
n.840C>G
1g.154571411C>TCA421231040CHRNB2c.588C>T (p.Asp196=)
c.594C>T (p.Asp198=)
c.78C>T (p.Asp26=)
n.840C>T
1g.154571412T>ACA342630419CHRNB2c.589T>A (p.Phe197Ile)
c.595T>A (p.Phe199Ile)
c.79T>A (p.Phe27Ile)
n.841T>A
1g.154571412T>CCA342630420CHRNB2c.589T>C (p.Phe197Leu)
c.595T>C (p.Phe199Leu)
c.79T>C (p.Phe27Leu)
n.841T>C
1g.154571412T>GCA342630421CHRNB2c.589T>G (p.Phe197Val)
c.595T>G (p.Phe199Val)
c.79T>G (p.Phe27Val)
n.841T>G
1g.154571413T>ACA342630423CHRNB2c.590T>A (p.Phe197Tyr)
c.596T>A (p.Phe199Tyr)
c.80T>A (p.Phe27Tyr)
n.842T>A
1g.154571413T>CCA342630424CHRNB2c.590T>C (p.Phe197Ser)
c.596T>C (p.Phe199Ser)
c.80T>C (p.Phe27Ser)
n.842T>C
 dbSNP
1g.154571413T>GCA342630422CHRNB2c.590T>G (p.Phe197Cys)
c.596T>G (p.Phe199Cys)
c.80T>G (p.Phe27Cys)
n.842T>G
1g.154571414C>ACA342630425CHRNB2c.591C>A (p.Phe197Leu)
c.597C>A (p.Phe199Leu)
c.81C>A (p.Phe27Leu)
n.843C>A
1g.154571414C>GCA342630426CHRNB2c.591C>G (p.Phe197Leu)
c.597C>G (p.Phe199Leu)
c.81C>G (p.Phe27Leu)
n.843C>G
1g.154571414C>TCA421231047CHRNB2c.591C>T (p.Phe197=)
c.597C>T (p.Phe199=)
c.81C>T (p.Phe27=)
n.843C>T
 gnomAD v4
1g.154571415A>CCA342630427CHRNB2c.592A>C (p.Thr198Pro)
c.598A>C (p.Thr200Pro)
c.82A>C (p.Thr28Pro)
n.844A>C
1g.154571415A>GCA342630428CHRNB2c.592A>G (p.Thr198Ala)
c.598A>G (p.Thr200Ala)
c.82A>G (p.Thr28Ala)
n.844A>G
 gnomAD v4
1g.154571415A>TCA342630429CHRNB2c.592A>T (p.Thr198Ser)
c.598A>T (p.Thr200Ser)
c.82A>T (p.Thr28Ser)
n.844A>T
 gnomAD v4
1g.154571416C>ACA342630430CHRNB2c.593C>A (p.Thr198Lys)
c.599C>A (p.Thr200Lys)
c.83C>A (p.Thr28Lys)
n.845C>A
1g.154571416C=CA1143427474CHRNB2c.593C= (p.Thr198=)
c.599C= (p.Thr200=)
c.83C= (p.Thr28=)
n.845C=
1g.154571416C>GCA342630431CHRNB2c.593C>G (p.Thr198Arg)
c.599C>G (p.Thr200Arg)
c.83C>G (p.Thr28Arg)
n.845C>G
1g.154571416C>TCA30834216CHRNB2c.593C>T (p.Thr198Ile)
c.599C>T (p.Thr200Ile)
c.83C>T (p.Thr28Ile)
n.845C>T
 ClinVar dbSNP gnomAD v4
1g.154571417A=CA1149154710CHRNB2c.594A= (p.Thr198=)
c.600A= (p.Thr200=)
c.84A= (p.Thr28=)
n.846A=
1g.154571417A>CCA421231054CHRNB2c.594A>C (p.Thr198=)
c.600A>C (p.Thr200=)
c.84A>C (p.Thr28=)
n.846A>C
1g.154571417A>GCA1130746CHRNB2c.594A>G (p.Thr198=)
c.600A>G (p.Thr200=)
c.84A>G (p.Thr28=)
n.846A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.154571417A>TCA421231056CHRNB2c.594A>T (p.Thr198=)
c.600A>T (p.Thr200=)
c.84A>T (p.Thr28=)
n.846A>T
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
1g.154571433G>CCA342630468CHRNB2c.610G>C (p.Asp204His)
c.616G>C (p.Asp206His)
c.100G>C (p.Asp34His)
n.862G>C
1g.154571433G>TCA342630469CHRNB2c.610G>T (p.Asp204Tyr)
c.616G>T (p.Asp206Tyr)
c.100G>T (p.Asp34Tyr)
n.862G>T
1g.154571434A>CCA342630470CHRNB2c.611A>C (p.Asp204Ala)
c.617A>C (p.Asp206Ala)
c.101A>C (p.Asp34Ala)
n.863A>C
1g.154571434A>GCA342630471CHRNB2c.611A>G (p.Asp204Gly)
c.617A>G (p.Asp206Gly)
c.101A>G (p.Asp34Gly)
n.863A>G
1g.154571434A>TCA342630472CHRNB2c.611A>T (p.Asp204Val)
c.617A>T (p.Asp206Val)
c.101A>T (p.Asp34Val)
n.863A>T
1g.154571435C>ACA342630474CHRNB2c.612C>A (p.Asp204Glu)
c.618C>A (p.Asp206Glu)
c.102C>A (p.Asp34Glu)
n.864C>A
1g.154571435C>GCA342630473CHRNB2c.612C>G (p.Asp204Glu)
c.618C>G (p.Asp206Glu)
c.102C>G (p.Asp34Glu)
n.864C>G
1g.154571435C>TCA421231102CHRNB2c.612C>T (p.Asp204=)
c.618C>T (p.Asp206=)
c.102C>T (p.Asp34=)
n.864C>T
1g.154571436A=CA1147397697CHRNB2c.613A= (p.Ile205=)
c.619A= (p.Ile207=)
c.103A= (p.Ile35=)
n.865A=
1g.154571436A>CCA342630475CHRNB2c.613A>C (p.Ile205Leu)
c.619A>C (p.Ile207Leu)
c.103A>C (p.Ile35Leu)
n.865A>C
1g.154571436A>GCA1130749CHRNB2c.613A>G (p.Ile205Val)
c.619A>G (p.Ile207Val)
c.103A>G (p.Ile35Val)
n.865A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.154571436A>TCA342630476CHRNB2c.613A>T (p.Ile205Phe)
c.619A>T (p.Ile207Phe)
c.103A>T (p.Ile35Phe)
n.865A>T
1g.154571437T>ACA342630477CHRNB2c.614T>A (p.Ile205Asn)
c.620T>A (p.Ile207Asn)
c.104T>A (p.Ile35Asn)
n.866T>A
 gnomAD v4
1g.154571437T>CCA342630478CHRNB2c.614T>C (p.Ile205Thr)
c.620T>C (p.Ile207Thr)
c.104T>C (p.Ile35Thr)
n.866T>C
1g.154571437T>GCA342630479CHRNB2c.614T>G (p.Ile205Ser)
c.620T>G (p.Ile207Ser)
c.104T>G (p.Ile35Ser)
n.866T>G
1g.154571438C>ACA421231122CHRNB2c.615C>A (p.Ile205=)
c.621C>A (p.Ile207=)
c.105C>A (p.Ile35=)
n.867C>A
1g.154571438C=CA1143535426CHRNB2c.615C= (p.Ile205=)
c.621C= (p.Ile207=)
c.105C= (p.Ile35=)
n.867C=
1g.154571438C>GCA30834237CHRNB2c.615C>G (p.Ile205Met)
c.621C>G (p.Ile207Met)
c.105C>G (p.Ile35Met)
n.867C>G
 dbSNP gnomAD v4
1g.154571438C>TCA1130750CHRNB2c.615C>T (p.Ile205=)
c.621C>T (p.Ile207=)
c.105C>T (p.Ile35=)
n.867C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.154571439G>ACA342630480CHRNB2c.616G>A (p.Val206Met)
c.622G>A (p.Val208Met)
c.106G>A (p.Val36Met)
n.868G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC
1g.154571439G>CCA342630481CHRNB2c.616G>C (p.Val206Leu)
c.622G>C (p.Val208Leu)
c.106G>C (p.Val36Leu)
n.868G>C
1g.154571439G=CA2480925253CHRNB2c.616G= (p.Val206=)
c.622G= (p.Val208=)
c.106G= (p.Val36=)
n.868G=
1g.154571439G>TCA342630482CHRNB2c.616G>T (p.Val206Leu)
c.622G>T (p.Val208Leu)
c.106G>T (p.Val36Leu)
n.868G>T
1g.154571440T>ACA342630485CHRNB2c.617T>A (p.Val206Glu)
c.623T>A (p.Val208Glu)
c.107T>A (p.Val36Glu)
n.869T>A
1g.154571440T>CCA342630484CHRNB2c.617T>C (p.Val206Ala)
c.623T>C (p.Val208Ala)
c.107T>C (p.Val36Ala)
n.869T>C
1g.154571440T>GCA342630483CHRNB2c.617T>G (p.Val206Gly)
c.623T>G (p.Val208Gly)
c.107T>G (p.Val36Gly)
n.869T>G
1g.154571441G>ACA421231128CHRNB2c.618G>A (p.Val206=)
c.624G>A (p.Val208=)
c.108G>A (p.Val36=)
n.870G>A
1g.154571441G>CCA421231129CHRNB2c.618G>C (p.Val206=)
c.624G>C (p.Val208=)
c.108G>C (p.Val36=)
n.870G>C
1g.154571441G>TCA421231130CHRNB2c.618G>T (p.Val206=)
c.624G>T (p.Val208=)
c.108G>T (p.Val36=)
n.870G>T
1g.154571442G>ACA342630486CHRNB2c.619G>A (p.Ala207Thr)
c.625G>A (p.Ala209Thr)
c.109G>A (p.Ala37Thr)
n.871G>A
1g.154571442G>CCA342630487CHRNB2c.619G>C (p.Ala207Pro)
c.625G>C (p.Ala209Pro)
c.109G>C (p.Ala37Pro)
n.871G>C
1g.154571442G>TCA342630488CHRNB2c.619G>T (p.Ala207Ser)
c.625G>T (p.Ala209Ser)
c.109G>T (p.Ala37Ser)
n.871G>T
1g.154571443C>ACA342630489CHRNB2c.620C>A (p.Ala207Glu)
c.626C>A (p.Ala209Glu)
c.110C>A (p.Ala37Glu)
n.872C>A
1g.154571443C=CA1143494582CHRNB2c.620C= (p.Ala207=)
c.626C= (p.Ala209=)
c.110C= (p.Ala37=)
n.872C=
1g.154571443C>GCA313653CHRNB2c.620C>G (p.Ala207Gly)
c.626C>G (p.Ala209Gly)
c.110C>G (p.Ala37Gly)
n.872C>G
 ClinVar dbSNP
1g.154571443C>TCA1130751CHRNB2c.620C>T (p.Ala207Val)
c.626C>T (p.Ala209Val)
c.110C>T (p.Ala37Val)
n.872C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.154571444G>ACA421231137CHRNB2c.621G>A (p.Ala207=)
c.627G>A (p.Ala209=)
c.111G>A (p.Ala37=)
n.873G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.154571444G>CCA421231135CHRNB2c.621G>C (p.Ala207=)
c.627G>C (p.Ala209=)
c.111G>C (p.Ala37=)
n.873G>C
1g.154571444G=CA2480925254CHRNB2c.621G= (p.Ala207=)
c.627G= (p.Ala209=)
c.111G= (p.Ala37=)
n.873G=
1g.154571444G>TCA421231136CHRNB2c.621G>T (p.Ala207=)
c.627G>T (p.Ala209=)
c.111G>T (p.Ala37=)
n.873G>T
1g.154571445C>ACA342630490CHRNB2c.622C>A (p.Leu208Met)
c.628C>A (p.Leu210Met)
c.112C>A (p.Leu38Met)
n.874C>A
1g.154571445C=CA2480925255CHRNB2c.622C= (p.Leu208=)
c.628C= (p.Leu210=)
c.112C= (p.Leu38=)
n.874C=
1g.154571445C>GCA342630491CHRNB2c.622C>G (p.Leu208Val)
c.628C>G (p.Leu210Val)
c.112C>G (p.Leu38Val)
n.874C>G
1g.154571445C>TCA30834260CHRNB2c.622C>T (p.Leu208=)
c.628C>T (p.Leu210=)
c.112C>T (p.Leu38=)
n.874C>T
 ClinVar dbSNP gnomAD v4
1g.154571446T>ACA342630492CHRNB2c.623T>A (p.Leu208Gln)
c.629T>A (p.Leu210Gln)
c.113T>A (p.Leu38Gln)
n.875T>A
1g.154571446T>CCA342630493CHRNB2c.623T>C (p.Leu208Pro)
c.629T>C (p.Leu210Pro)
c.113T>C (p.Leu38Pro)
n.875T>C
1g.154571446T>GCA342630494CHRNB2c.623T>G (p.Leu208Arg)
c.629T>G (p.Leu210Arg)
c.113T>G (p.Leu38Arg)
n.875T>G
1g.154571447G>ACA421231149CHRNB2c.624G>A (p.Leu208=)
c.630G>A (p.Leu210=)
c.114G>A (p.Leu38=)
n.876G>A
 gnomAD v4
1g.154571447G>CCA421231151CHRNB2c.624G>C (p.Leu208=)
c.630G>C (p.Leu210=)
c.114G>C (p.Leu38=)
n.876G>C
1g.154571447G>TCA421231153CHRNB2c.624G>T (p.Leu208=)
c.630G>T (p.Leu210=)
c.114G>T (p.Leu38=)
n.876G>T
1g.154571448C>ACA342630497CHRNB2c.625C>A (p.Pro209Thr)
c.631C>A (p.Pro211Thr)
c.115C>A (p.Pro39Thr)
n.877C>A
1g.154571448C>GCA342630496CHRNB2c.625C>G (p.Pro209Ala)
c.631C>G (p.Pro211Ala)
c.115C>G (p.Pro39Ala)
n.877C>G
1g.154571448C>TCA342630495CHRNB2c.625C>T (p.Pro209Ser)
c.631C>T (p.Pro211Ser)
c.115C>T (p.Pro39Ser)
n.877C>T
1g.154571449C>ACA342630498CHRNB2c.626C>A (p.Pro209Gln)
c.632C>A (p.Pro211Gln)
c.116C>A (p.Pro39Gln)
n.878C>A
1g.154571449C=CA2480925256CHRNB2c.626C= (p.Pro209=)
c.632C= (p.Pro211=)
c.116C= (p.Pro39=)
n.878C=
1g.154571449C>GCA342630499CHRNB2c.626C>G (p.Pro209Arg)
c.632C>G (p.Pro211Arg)
c.116C>G (p.Pro39Arg)
n.878C>G
 gnomAD v4
1g.154571449C>TCA30834265CHRNB2c.626C>T (p.Pro209Leu)
c.632C>T (p.Pro211Leu)
c.116C>T (p.Pro39Leu)
n.878C>T
 ClinVar dbSNP gnomAD v4 COSMIC
1g.154571451_154571458delCA2648170004CHRNB2c.628_635del (p.Gly210GlnfsTer15)
c.634_641del (p.Gly212GlnfsTer15)
c.118_125del (p.Gly40GlnfsTer15)
n.880_887del
 gnomAD v4
1g.154571450G>ACA1130752CHRNB2c.627G>A (p.Pro209=)
c.633G>A (p.Pro211=)
c.117G>A (p.Pro39=)
n.879G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.154571450G>CCA421231160CHRNB2c.627G>C (p.Pro209=)
c.633G>C (p.Pro211=)
c.117G>C (p.Pro39=)
n.879G>C
1g.154571450G=CA2480925257CHRNB2c.627G= (p.Pro209=)
c.633G= (p.Pro211=)
c.117G= (p.Pro39=)
n.879G=
1g.154571450G>TCA421231162CHRNB2c.627G>T (p.Pro209=)
c.633G>T (p.Pro211=)
c.117G>T (p.Pro39=)
n.879G>T
1g.154571451G>ACA342630500CHRNB2c.628G>A (p.Gly210Ser)
c.634G>A (p.Gly212Ser)
c.118G>A (p.Gly40Ser)
n.880G>A
1g.154571451G>CCA342630501CHRNB2c.628G>C (p.Gly210Arg)
c.634G>C (p.Gly212Arg)
c.118G>C (p.Gly40Arg)
n.880G>C
1g.154571451G>TCA342630502CHRNB2c.628G>T (p.Gly210Cys)
c.634G>T (p.Gly212Cys)
c.118G>T (p.Gly40Cys)
n.880G>T
1g.154571452G>ACA342630503CHRNB2c.629G>A (p.Gly210Asp)
c.635G>A (p.Gly212Asp)
c.119G>A (p.Gly40Asp)
n.881G>A
1g.154571452G>CCA342630504CHRNB2c.629G>C (p.Gly210Ala)
c.635G>C (p.Gly212Ala)
c.119G>C (p.Gly40Ala)
n.881G>C
1g.154571452G>TCA342630505CHRNB2c.629G>T (p.Gly210Val)
c.635G>T (p.Gly212Val)
c.119G>T (p.Gly40Val)
n.881G>T
1g.154571453C>ACA421231169CHRNB2c.630C>A (p.Gly210=)
c.636C>A (p.Gly212=)
c.120C>A (p.Gly40=)
n.882C>A
1g.154571453C>GCA421231170CHRNB2c.630C>G (p.Gly210=)
c.636C>G (p.Gly212=)
c.120C>G (p.Gly40=)
n.882C>G
1g.154571453C>TCA421231171CHRNB2c.630C>T (p.Gly210=)
c.636C>T (p.Gly212=)
c.120C>T (p.Gly40=)
n.882C>T
1g.154571454C>ACA421231173CHRNB2c.631C>A (p.Arg211=)
c.637C>A (p.Arg213=)
c.121C>A (p.Arg41=)
n.883C>A
 dbSNP gnomAD v2 gnomAD v4
1g.154571454C=CA1143396276CHRNB2c.631C= (p.Arg211=)
c.637C= (p.Arg213=)
c.121C= (p.Arg41=)
n.883C=
1g.154571454C>GCA342630506CHRNB2c.631C>G (p.Arg211Gly)
c.637C>G (p.Arg213Gly)
c.121C>G (p.Arg41Gly)
n.883C>G
1g.154571454C>TCA1130753CHRNB2c.631C>T (p.Arg211Trp)
c.637C>T (p.Arg213Trp)
c.121C>T (p.Arg41Trp)
n.883C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.154571455G>ACA342630509CHRNB2c.632G>A (p.Arg211Gln)
c.638G>A (p.Arg213Gln)
c.122G>A (p.Arg41Gln)
n.884G>A
 ClinVar dbSNP gnomAD v4
1g.154571455G>CCA342630508CHRNB2c.632G>C (p.Arg211Pro)
c.638G>C (p.Arg213Pro)
c.122G>C (p.Arg41Pro)
n.884G>C
1g.154571455G=CA2480925258CHRNB2c.632G= (p.Arg211=)
c.638G= (p.Arg213=)
c.122G= (p.Arg41=)
n.884G=
1g.154571455G>TCA342630507CHRNB2c.632G>T (p.Arg211Leu)
c.638G>T (p.Arg213Leu)
c.122G>T (p.Arg41Leu)
n.884G>T
1g.154571456G>ACA421231176CHRNB2c.633G>A (p.Arg211=)
c.639G>A (p.Arg213=)
c.123G>A (p.Arg41=)
n.885G>A
1g.154571456G>CCA421231177CHRNB2c.633G>C (p.Arg211=)
c.639G>C (p.Arg213=)
c.123G>C (p.Arg41=)
n.885G>C
 gnomAD v4
1g.154571456G>TCA421231183CHRNB2c.633G>T (p.Arg211=)
c.639G>T (p.Arg213=)
c.123G>T (p.Arg41=)
n.885G>T
1g.154571457C>ACA342630510CHRNB2c.634C>A (p.Arg212Ser)
c.640C>A (p.Arg214Ser)
c.124C>A (p.Arg42Ser)
n.886C>A
1g.154571457C=CA1147690155CHRNB2c.634C= (p.Arg212=)
c.640C= (p.Arg214=)
c.124C= (p.Arg42=)
n.886C=
1g.154571457C>GCA342630511CHRNB2c.634C>G (p.Arg212Gly)
c.640C>G (p.Arg214Gly)
c.124C>G (p.Arg42Gly)
n.886C>G
 gnomAD v4
1g.154571457C>TCA1130754CHRNB2c.634C>T (p.Arg212Cys)
c.640C>T (p.Arg214Cys)
c.124C>T (p.Arg42Cys)
n.886C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.154571458G>ACA1130755CHRNB2c.635G>A (p.Arg212His)
c.641G>A (p.Arg214His)
c.125G>A (p.Arg42His)
n.887G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.154571458G>CCA342630512CHRNB2c.635G>C (p.Arg212Pro)
c.641G>C (p.Arg214Pro)
c.125G>C (p.Arg42Pro)
n.887G>C
1g.154571458G=CA1149111108CHRNB2c.635G= (p.Arg212=)
c.641G= (p.Arg214=)
c.125G= (p.Arg42=)
n.887G=
1g.154571458G>TCA342630513CHRNB2c.635G>T (p.Arg212Leu)
c.641G>T (p.Arg214Leu)
c.125G>T (p.Arg42Leu)
n.887G>T
1g.154571459C>ACA421231186CHRNB2c.636C>A (p.Arg212=)
c.642C>A (p.Arg214=)
c.126C>A (p.Arg42=)
n.888C>A
1g.154571459C>GCA421231188CHRNB2c.636C>G (p.Arg212=)
c.642C>G (p.Arg214=)
c.126C>G (p.Arg42=)
n.888C>G
1g.154571459C>TCA421231190CHRNB2c.636C>T (p.Arg212=)
c.642C>T (p.Arg214=)
c.126C>T (p.Arg42=)
n.888C>T
 gnomAD v4
1g.154571460A>CCA342630514CHRNB2c.637A>C (p.Asn213His)
c.643A>C (p.Asn215His)
c.127A>C (p.Asn43His)
n.889A>C
 gnomAD v4
1g.154571460A>GCA342630515CHRNB2c.637A>G (p.Asn213Asp)
c.643A>G (p.Asn215Asp)
c.127A>G (p.Asn43Asp)
n.889A>G
1g.154571460A>TCA342630516CHRNB2c.637A>T (p.Asn213Tyr)
c.643A>T (p.Asn215Tyr)
c.127A>T (p.Asn43Tyr)
n.889A>T
1g.154571461A>CCA342630517CHRNB2c.638A>C (p.Asn213Thr)
c.644A>C (p.Asn215Thr)
c.128A>C (p.Asn43Thr)
n.890A>C
1g.154571461A>GCA342630518CHRNB2c.638A>G (p.Asn213Ser)
c.644A>G (p.Asn215Ser)
c.128A>G (p.Asn43Ser)
n.890A>G
 gnomAD v4
1g.154571461A>TCA342630519CHRNB2c.638A>T (p.Asn213Ile)
c.644A>T (p.Asn215Ile)
c.128A>T (p.Asn43Ile)
n.890A>T
1g.154571462C>ACA342630520CHRNB2c.639C>A (p.Asn213Lys)
c.645C>A (p.Asn215Lys)
c.129C>A (p.Asn43Lys)
n.891C>A
1g.154571462C=CA2480925259CHRNB2c.639C= (p.Asn213=)
c.645C= (p.Asn215=)
c.129C= (p.Asn43=)
n.891C=
1g.154571462C>GCA342630521CHRNB2c.639C>G (p.Asn213Lys)
c.645C>G (p.Asn215Lys)
c.129C>G (p.Asn43Lys)
n.891C>G
 gnomAD v4
1g.154571462C>TCA1130756CHRNB2c.639C>T (p.Asn213=)
c.645C>T (p.Asn215=)
c.129C>T (p.Asn43=)
n.891C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.154571463G>ACA313655CHRNB2c.640G>A (p.Glu214Lys)
c.646G>A (p.Glu216Lys)
c.130G>A (p.Glu44Lys)
n.892G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.154571463G>CCA342630522CHRNB2c.640G>C (p.Glu214Gln)
c.646G>C (p.Glu216Gln)
c.130G>C (p.Glu44Gln)
n.892G>C
 ClinVar dbSNP
1g.154571463G=CA2480925260CHRNB2c.640G= (p.Glu214=)
c.646G= (p.Glu216=)
c.130G= (p.Glu44=)
n.892G=
1g.154571463G>TCA342630523CHRNB2c.640G>T (p.Glu214Ter)
c.646G>T (p.Glu216Ter)
c.130G>T (p.Glu44Ter)
n.892G>T
1g.154571464A>CCA342630524CHRNB2c.641A>C (p.Glu214Ala)
c.647A>C (p.Glu216Ala)
c.131A>C (p.Glu44Ala)
n.893A>C
1g.154571464A>GCA342630525CHRNB2c.641A>G (p.Glu214Gly)
c.647A>G (p.Glu216Gly)
c.131A>G (p.Glu44Gly)
n.893A>G
1g.154571464A>TCA342630526CHRNB2c.641A>T (p.Glu214Val)
c.647A>T (p.Glu216Val)
c.131A>T (p.Glu44Val)
n.893A>T
1g.154571465G>ACA421231206CHRNB2c.642G>A (p.Glu214=)
c.648G>A (p.Glu216=)
c.132G>A (p.Glu44=)
n.894G>A
1g.154571465G>CCA342630527CHRNB2c.642G>C (p.Glu214Asp)
c.648G>C (p.Glu216Asp)
c.132G>C (p.Glu44Asp)
n.894G>C
 gnomAD v4
1g.154571465G>TCA342630528CHRNB2c.642G>T (p.Glu214Asp)
c.648G>T (p.Glu216Asp)
c.132G>T (p.Glu44Asp)
n.894G>T
1g.154571466A>CCA342630529CHRNB2c.643A>C (p.Asn215His)
c.649A>C (p.Asn217His)
c.133A>C (p.Asn45His)
n.895A>C
1g.154571466A>GCA342630530CHRNB2c.643A>G (p.Asn215Asp)
c.649A>G (p.Asn217Asp)
c.133A>G (p.Asn45Asp)
n.895A>G
1g.154571466A>TCA342630531CHRNB2c.643A>T (p.Asn215Tyr)
c.649A>T (p.Asn217Tyr)
c.133A>T (p.Asn45Tyr)
n.895A>T
1g.154571467A=CA2480925261CHRNB2c.644A= (p.Asn215=)
c.650A= (p.Asn217=)
c.134A= (p.Asn45=)
n.896A=
1g.154571467A>CCA342630532CHRNB2c.644A>C (p.Asn215Thr)
c.650A>C (p.Asn217Thr)
c.134A>C (p.Asn45Thr)
n.896A>C
 dbSNP gnomAD v4
1g.154571467A>GCA342630533CHRNB2c.644A>G (p.Asn215Ser)
c.650A>G (p.Asn217Ser)
c.134A>G (p.Asn45Ser)
n.896A>G
1g.154571467A>TCA342630534CHRNB2c.644A>T (p.Asn215Ile)
c.650A>T (p.Asn217Ile)
c.134A>T (p.Asn45Ile)
n.896A>T
1g.154571468C>ACA342630535CHRNB2c.645C>A (p.Asn215Lys)
c.651C>A (p.Asn217Lys)
c.135C>A (p.Asn45Lys)
n.897C>A
1g.154571468C>GCA342630536CHRNB2c.645C>G (p.Asn215Lys)
c.651C>G (p.Asn217Lys)
c.135C>G (p.Asn45Lys)
n.897C>G
1g.154571468C>TCA421231216CHRNB2c.645C>T (p.Asn215=)
c.651C>T (p.Asn217=)
c.135C>T (p.Asn45=)
n.897C>T
 ClinVar
1g.154571471dupCA2648170054CHRNB2c.648dup (p.Asp217ArgfsTer11)
c.654dup (p.Asp219ArgfsTer11)
c.138dup (p.Asp47ArgfsTer11)
n.900dup
 gnomAD v4
1g.154571471delCA2499214194CHRNB2c.648del (p.Asp217ThrfsTer?)
c.654del (p.Asp219ThrfsTer?)
c.138del (p.Asp47ThrfsTer?)
n.900del
 ClinVar dbSNP
1g.154571469_154571471delCA2648170056CHRNB2c.646_648del (p.Pro216del)
c.652_654del (p.Pro218del)
c.136_138del (p.Pro46del)
n.898_900del
 gnomAD v4
1g.154571469C>ACA30834320CHRNB2c.646C>A (p.Pro216Thr)
c.652C>A (p.Pro218Thr)
c.136C>A (p.Pro46Thr)
n.898C>A
 dbSNP gnomAD v4
1g.154571469C=CA1143440722CHRNB2c.646C= (p.Pro216=)
c.652C= (p.Pro218=)
c.136C= (p.Pro46=)
n.898C=
1g.154571469C>GCA342630537CHRNB2c.646C>G (p.Pro216Ala)
c.652C>G (p.Pro218Ala)
c.136C>G (p.Pro46Ala)
n.898C>G
 dbSNP gnomAD v3 gnomAD v4
1g.154571469C>TCA1130757CHRNB2c.646C>T (p.Pro216Ser)
c.652C>T (p.Pro218Ser)
c.136C>T (p.Pro46Ser)
n.898C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.154571469_154571470delinsCCCA2480925262CHRNB2c.646_647delinsCC (p.Pro216=)
c.652_653delinsCC (p.Pro218=)
c.136_137delinsCC (p.Pro46=)
n.898_899delinsCC
1g.154571469_154571470delinsTTCA30834309CHRNB2c.646_647delinsTT (p.Pro216Phe)
c.652_653delinsTT (p.Pro218Phe)
c.136_137delinsTT (p.Pro46Phe)
n.898_899delinsTT
 dbSNP
1g.154571470C>ACA342630538CHRNB2c.647C>A (p.Pro216His)
c.653C>A (p.Pro218His)
c.137C>A (p.Pro46His)
n.899C>A
1g.154571470C>GCA342630539CHRNB2c.647C>G (p.Pro216Arg)
c.653C>G (p.Pro218Arg)
c.137C>G (p.Pro46Arg)
n.899C>G
1g.154571470C>TCA342630540CHRNB2c.647C>T (p.Pro216Leu)
c.653C>T (p.Pro218Leu)
c.137C>T (p.Pro46Leu)
n.899C>T
1g.154571471C>ACA421231220CHRNB2c.648C>A (p.Pro216=)
c.654C>A (p.Pro218=)
c.138C>A (p.Pro46=)
n.900C>A
 COSMIC
1g.154571471C=CA1143759580CHRNB2c.648C= (p.Pro216=)
c.654C= (p.Pro218=)
c.138C= (p.Pro46=)
n.900C=
1g.154571471C>GCA421231223CHRNB2c.648C>G (p.Pro216=)
c.654C>G (p.Pro218=)
c.138C>G (p.Pro46=)
n.900C>G
 ClinVar dbSNP gnomAD v4
1g.154571471C>TCA1130758CHRNB2c.648C>T (p.Pro216=)
c.654C>T (p.Pro218=)
c.138C>T (p.Pro46=)
n.900C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.154571472G>ACA1130759CHRNB2c.649G>A (p.Asp217Asn)
c.655G>A (p.Asp219Asn)
c.139G>A (p.Asp47Asn)
n.901G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.154571472G>CCA342630541CHRNB2c.649G>C (p.Asp217His)
c.655G>C (p.Asp219His)
c.139G>C (p.Asp47His)
n.901G>C
1g.154571472G=CA2480925263CHRNB2c.649G= (p.Asp217=)
c.655G= (p.Asp219=)
c.139G= (p.Asp47=)
n.901G=
1g.154571472G>TCA342630542CHRNB2c.649G>T (p.Asp217Tyr)
c.655G>T (p.Asp219Tyr)
c.139G>T (p.Asp47Tyr)
n.901G>T
 dbSNP gnomAD v2 gnomAD v4
1g.154571473A>CCA342630543CHRNB2c.650A>C (p.Asp217Ala)
c.656A>C (p.Asp219Ala)
c.140A>C (p.Asp47Ala)
n.902A>C
1g.154571473A>GCA342630544CHRNB2c.650A>G (p.Asp217Gly)
c.656A>G (p.Asp219Gly)
c.140A>G (p.Asp47Gly)
n.902A>G
1g.154571473A>TCA342630545CHRNB2c.650A>T (p.Asp217Val)
c.656A>T (p.Asp219Val)
c.140A>T (p.Asp47Val)
n.902A>T
1g.154571476_154571483dupCA2746189168CHRNB2c.653_660dup (p.Tyr221ThrfsTer?)
c.659_666dup (p.Tyr223ThrfsTer?)
c.143_150dup (p.Tyr51ThrfsTer?)
n.905_912dup
1g.154571474C>ACA342630546CHRNB2c.651C>A (p.Asp217Glu)
c.657C>A (p.Asp219Glu)
c.141C>A (p.Asp47Glu)
n.903C>A
 dbSNP gnomAD v4
1g.154571474C=CA2480925264CHRNB2c.651C= (p.Asp217=)
c.657C= (p.Asp219=)
c.141C= (p.Asp47=)
n.903C=
1g.154571474C>GCA342630547CHRNB2c.651C>G (p.Asp217Glu)
c.657C>G (p.Asp219Glu)
c.141C>G (p.Asp47Glu)
n.903C>G
1g.154571474C>TCA421231239CHRNB2c.651C>T (p.Asp217=)
c.657C>T (p.Asp219=)
c.141C>T (p.Asp47=)
n.903C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.154571475G>ACA342630548CHRNB2c.652G>A (p.Asp218Asn)
c.658G>A (p.Asp220Asn)
c.142G>A (p.Asp48Asn)
n.904G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.154571475G>CCA342630549CHRNB2c.652G>C (p.Asp218His)
c.658G>C (p.Asp220His)
c.142G>C (p.Asp48His)
n.904G>C
1g.154571475G=CA2480925265CHRNB2c.652G= (p.Asp218=)
c.658G= (p.Asp220=)
c.142G= (p.Asp48=)
n.904G=
1g.154571475G>TCA342630550CHRNB2c.652G>T (p.Asp218Tyr)
c.658G>T (p.Asp220Tyr)
c.142G>T (p.Asp48Tyr)
n.904G>T

Number of alleles fetched