Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.36564583G>ACA411375953CACNG2c.740C>T (p.Ser247Leu)
c.482C>T (p.Ser161Leu)
c.671C>T (p.Ser224Leu)
n.2106C>T
22g.36564583G>CCA411375968CACNG2c.740C>G (p.Ser247Ter)
c.482C>G (p.Ser161Ter)
c.671C>G (p.Ser224Ter)
n.2106C>G
22g.36564583G>TCA411375975CACNG2c.740C>A (p.Ser247Ter)
c.482C>A (p.Ser161Ter)
c.671C>A (p.Ser224Ter)
n.2106C>A
22g.36564584A>CCA411375991CACNG2c.739T>G (p.Ser247Ala)
c.481T>G (p.Ser161Ala)
c.670T>G (p.Ser224Ala)
n.2105T>G
22g.36564584A>GCA411375982CACNG2c.739T>C (p.Ser247Pro)
c.481T>C (p.Ser161Pro)
c.670T>C (p.Ser224Pro)
n.2105T>C
 gnomAD v4
22g.36564584A>TCA411375989CACNG2c.739T>A (p.Ser247Thr)
c.481T>A (p.Ser161Thr)
c.670T>A (p.Ser224Thr)
n.2105T>A
22g.36564585G>ACA514475067CACNG2c.738C>T (p.Pro246=)
c.480C>T (p.Pro160=)
c.669C>T (p.Pro223=)
n.2104C>T
 dbSNP gnomAD v4
22g.36564585G>CCA514475066CACNG2c.738C>G (p.Pro246=)
c.480C>G (p.Pro160=)
c.669C>G (p.Pro223=)
n.2104C>G
22g.36564585G=CA2403929597CACNG2c.738C= (p.Pro246=)
c.480C= (p.Pro160=)
c.669C= (p.Pro223=)
n.2104C=
22g.36564585G>TCA514475065CACNG2c.738C>A (p.Pro246=)
c.480C>A (p.Pro160=)
c.669C>A (p.Pro223=)
n.2104C>A
22g.36564586G>ACA411375995CACNG2c.737C>T (p.Pro246Leu)
c.479C>T (p.Pro160Leu)
c.668C>T (p.Pro223Leu)
n.2103C>T
22g.36564586G>CCA411376000CACNG2c.737C>G (p.Pro246Arg)
c.479C>G (p.Pro160Arg)
c.668C>G (p.Pro223Arg)
n.2103C>G
22g.36564586G>TCA411376007CACNG2c.737C>A (p.Pro246His)
c.479C>A (p.Pro160His)
c.668C>A (p.Pro223His)
n.2103C>A
22g.36564587G>ACA411376011CACNG2c.736C>T (p.Pro246Ser)
c.478C>T (p.Pro160Ser)
c.667C>T (p.Pro223Ser)
n.2102C>T
22g.36564587G>CCA411376019CACNG2c.736C>G (p.Pro246Ala)
c.478C>G (p.Pro160Ala)
c.667C>G (p.Pro223Ala)
n.2102C>G
22g.36564587G=CA2403929598CACNG2c.736C= (p.Pro246=)
c.478C= (p.Pro160=)
c.667C= (p.Pro223=)
n.2102C=
22g.36564587G>TCA10212115CACNG2c.736C>A (p.Pro246Thr)
c.478C>A (p.Pro160Thr)
c.667C>A (p.Pro223Thr)
n.2102C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.36564588C>ACA411376026CACNG2c.735G>T (p.Glu245Asp)
c.477G>T (p.Glu159Asp)
c.666G>T (p.Glu222Asp)
n.2101G>T
22g.36564588C=CA2403929599CACNG2c.735G= (p.Glu245=)
c.477G= (p.Glu159=)
c.666G= (p.Glu222=)
n.2101G=
22g.36564588C>GCA411376027CACNG2c.735G>C (p.Glu245Asp)
c.477G>C (p.Glu159Asp)
c.666G>C (p.Glu222Asp)
n.2101G>C
 dbSNP gnomAD v3 gnomAD v4
22g.36564588C>TCA514475068CACNG2c.735G>A (p.Glu245=)
c.477G>A (p.Glu159=)
c.666G>A (p.Glu222=)
n.2101G>A
22g.36564589T>ACA411376028CACNG2c.734A>T (p.Glu245Val)
c.476A>T (p.Glu159Val)
c.665A>T (p.Glu222Val)
n.2100A>T
22g.36564589T>CCA411376029CACNG2c.734A>G (p.Glu245Gly)
c.476A>G (p.Glu159Gly)
c.665A>G (p.Glu222Gly)
n.2100A>G
22g.36564589T>GCA411376030CACNG2c.734A>C (p.Glu245Ala)
c.476A>C (p.Glu159Ala)
c.665A>C (p.Glu222Ala)
n.2100A>C
22g.36564590C>ACA411376037CACNG2c.733G>T (p.Glu245Ter)
c.475G>T (p.Glu159Ter)
c.664G>T (p.Glu222Ter)
n.2099G>T
22g.36564590C>GCA411376038CACNG2c.733G>C (p.Glu245Gln)
c.475G>C (p.Glu159Gln)
c.664G>C (p.Glu222Gln)
n.2099G>C
22g.36564590C>TCA411376034CACNG2c.733G>A (p.Glu245Lys)
c.475G>A (p.Glu159Lys)
c.664G>A (p.Glu222Lys)
n.2099G>A
22g.36564591C>ACA10212116CACNG2c.732G>T (p.Thr244=)
c.474G>T (p.Thr158=)
c.663G>T (p.Thr221=)
n.2098G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.36564591C=CA2403929600CACNG2c.732G= (p.Thr244=)
c.474G= (p.Thr158=)
c.663G= (p.Thr221=)
n.2098G=
22g.36564591C>GCA514475069CACNG2c.732G>C (p.Thr244=)
c.474G>C (p.Thr158=)
c.663G>C (p.Thr221=)
n.2098G>C
22g.36564591C>TCA514475070CACNG2c.732G>A (p.Thr244=)
c.474G>A (p.Thr158=)
c.663G>A (p.Thr221=)
n.2098G>A
 dbSNP gnomAD v2 gnomAD v4
22g.36564592G>ACA411376040CACNG2c.731C>T (p.Thr244Met)
c.473C>T (p.Thr158Met)
c.662C>T (p.Thr221Met)
n.2097C>T
 COSMIC
22g.36564592G>CCA411376041CACNG2c.731C>G (p.Thr244Arg)
c.473C>G (p.Thr158Arg)
c.662C>G (p.Thr221Arg)
n.2097C>G
22g.36564592G>TCA411376042CACNG2c.731C>A (p.Thr244Lys)
c.473C>A (p.Thr158Lys)
c.662C>A (p.Thr221Lys)
n.2097C>A
22g.36564592_36564604delinsGTGGAGCGCGAGCCA2403929601CACNG2c.719_731delinsGCTCGCGCTCCAC (p.Ser240=)
c.461_473delinsGCTCGCGCTCCAC (p.Ser154=)
c.650_662delinsGCTCGCGCTCCAC (p.Ser217=)
n.2085_2097delinsGCTCGCGCTCCAC
22g.36564593T>ACA411376045CACNG2c.730A>T (p.Thr244Ser)
c.472A>T (p.Thr158Ser)
c.661A>T (p.Thr221Ser)
n.2096A>T
 gnomAD v4
22g.36564593T>CCA411376046CACNG2c.730A>G (p.Thr244Ala)
c.472A>G (p.Thr158Ala)
c.661A>G (p.Thr221Ala)
n.2096A>G
 dbSNP
22g.36564593T>GCA411376047CACNG2c.730A>C (p.Thr244Pro)
c.472A>C (p.Thr158Pro)
c.661A>C (p.Thr221Pro)
n.2096A>C
22g.36564593T=CA2403929602CACNG2c.730A= (p.Thr244=)
c.472A= (p.Thr158=)
c.661A= (p.Thr221=)
n.2096A=
22g.36564600_36564611delCA639392928CACNG2c.719_730del (p.Ser240_Ser243del)
c.461_472del (p.Ser154_Ser157del)
c.650_661del (p.Ser217_Ser220del)
n.2085_2096del
 dbSNP gnomAD v2 gnomAD v4
22g.36564594G>ACA514475072CACNG2c.729C>T (p.Ser243=)
c.471C>T (p.Ser157=)
c.660C>T (p.Ser220=)
n.2095C>T
22g.36564594G>CCA514475073CACNG2c.729C>G (p.Ser243=)
c.471C>G (p.Ser157=)
c.660C>G (p.Ser220=)
n.2095C>G
22g.36564594G>TCA514475074CACNG2c.729C>A (p.Ser243=)
c.471C>A (p.Ser157=)
c.660C>A (p.Ser220=)
n.2095C>A
22g.36564595G>ACA411376049CACNG2c.728C>T (p.Ser243Phe)
c.470C>T (p.Ser157Phe)
c.659C>T (p.Ser220Phe)
n.2094C>T
22g.36564595G>CCA411376050CACNG2c.728C>G (p.Ser243Cys)
c.470C>G (p.Ser157Cys)
c.659C>G (p.Ser220Cys)
n.2094C>G
 gnomAD v4
22g.36564595G>TCA411376051CACNG2c.728C>A (p.Ser243Tyr)
c.470C>A (p.Ser157Tyr)
c.659C>A (p.Ser220Tyr)
n.2094C>A
 gnomAD v4
22g.36564596A>CCA411376053CACNG2c.727T>G (p.Ser243Ala)
c.469T>G (p.Ser157Ala)
c.658T>G (p.Ser220Ala)
n.2093T>G
22g.36564596A>GCA411376056CACNG2c.727T>C (p.Ser243Pro)
c.469T>C (p.Ser157Pro)
c.658T>C (p.Ser220Pro)
n.2093T>C
22g.36564596A>TCA411376060CACNG2c.727T>A (p.Ser243Thr)
c.469T>A (p.Ser157Thr)
c.658T>A (p.Ser220Thr)
n.2093T>A
22g.36564597G>ACA323997619CACNG2c.726C>T (p.Arg242=)
c.468C>T (p.Arg156=)
c.657C>T (p.Arg219=)
n.2092C>T
 dbSNP
22g.36564597G>CCA514475077CACNG2c.726C>G (p.Arg242=)
c.468C>G (p.Arg156=)
c.657C>G (p.Arg219=)
n.2092C>G
22g.36564597G=CA2403929603CACNG2c.726C= (p.Arg242=)
c.468C= (p.Arg156=)
c.657C= (p.Arg219=)
n.2092C=
22g.36564597G>TCA10212117CACNG2c.726C>A (p.Arg242=)
c.468C>A (p.Arg156=)
c.657C>A (p.Arg219=)
n.2092C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.36564598C>ACA411376072CACNG2c.725G>T (p.Arg242Leu)
c.467G>T (p.Arg156Leu)
c.656G>T (p.Arg219Leu)
n.2091G>T
22g.36564598C>GCA411376075CACNG2c.725G>C (p.Arg242Pro)
c.467G>C (p.Arg156Pro)
c.656G>C (p.Arg219Pro)
n.2091G>C
 gnomAD v4
22g.36564598C>TCA411376077CACNG2c.725G>A (p.Arg242His)
c.467G>A (p.Arg156His)
c.656G>A (p.Arg219His)
n.2091G>A
 COSMIC
22g.36564599G>ACA411376080CACNG2c.724C>T (p.Arg242Cys)
c.466C>T (p.Arg156Cys)
c.655C>T (p.Arg219Cys)
n.2090C>T
22g.36564599G>CCA411376089CACNG2c.724C>G (p.Arg242Gly)
c.466C>G (p.Arg156Gly)
c.655C>G (p.Arg219Gly)
n.2090C>G
22g.36564599G>TCA411376093CACNG2c.724C>A (p.Arg242Ser)
c.466C>A (p.Arg156Ser)
c.655C>A (p.Arg219Ser)
n.2090C>A
22g.36564600C>ACA514475079CACNG2c.723G>T (p.Ser241=)
c.465G>T (p.Ser155=)
c.654G>T (p.Ser218=)
n.2089G>T
22g.36564600C=CA2403929604CACNG2c.723G= (p.Ser241=)
c.465G= (p.Ser155=)
c.654G= (p.Ser218=)
n.2089G=
22g.36564600C>GCA514475080CACNG2c.723G>C (p.Ser241=)
c.465G>C (p.Ser155=)
c.654G>C (p.Ser218=)
n.2089G>C
22g.36564600C>TCA514475081CACNG2c.723G>A (p.Ser241=)
c.465G>A (p.Ser155=)
c.654G>A (p.Ser218=)
n.2089G>A
 dbSNP
22g.36564601G>ACA411376113CACNG2c.722C>T (p.Ser241Leu)
c.464C>T (p.Ser155Leu)
c.653C>T (p.Ser218Leu)
n.2088C>T
 COSMIC
22g.36564601G>CCA411376099CACNG2c.722C>G (p.Ser241Trp)
c.464C>G (p.Ser155Trp)
c.653C>G (p.Ser218Trp)
n.2088C>G
22g.36564601G>TCA411376105CACNG2c.722C>A (p.Ser241Ter)
c.464C>A (p.Ser155Ter)
c.653C>A (p.Ser218Ter)
n.2088C>A
22g.36564602A>CCA411376117CACNG2c.721T>G (p.Ser241Ala)
c.463T>G (p.Ser155Ala)
c.652T>G (p.Ser218Ala)
n.2087T>G
22g.36564602A>GCA411376119CACNG2c.721T>C (p.Ser241Pro)
c.463T>C (p.Ser155Pro)
c.652T>C (p.Ser218Pro)
n.2087T>C
22g.36564602A>TCA411376139CACNG2c.721T>A (p.Ser241Thr)
c.463T>A (p.Ser155Thr)
c.652T>A (p.Ser218Thr)
n.2087T>A
22g.36564603G>ACA514475083CACNG2c.720C>T (p.Ser240=)
c.462C>T (p.Ser154=)
c.651C>T (p.Ser217=)
n.2086C>T
22g.36564603G>CCA411376143CACNG2c.720C>G (p.Ser240Arg)
c.462C>G (p.Ser154Arg)
c.651C>G (p.Ser217Arg)
n.2086C>G
22g.36564603G>TCA411376144CACNG2c.720C>A (p.Ser240Arg)
c.462C>A (p.Ser154Arg)
c.651C>A (p.Ser217Arg)
n.2086C>A
22g.36564604C>ACA411376147CACNG2c.719G>T (p.Ser240Ile)
c.461G>T (p.Ser154Ile)
c.650G>T (p.Ser217Ile)
n.2085G>T
22g.36564604C>GCA411376145CACNG2c.719G>C (p.Ser240Thr)
c.461G>C (p.Ser154Thr)
c.650G>C (p.Ser217Thr)
n.2085G>C
22g.36564604C>TCA411376146CACNG2c.719G>A (p.Ser240Asn)
c.461G>A (p.Ser154Asn)
c.650G>A (p.Ser217Asn)
n.2085G>A
22g.36564605T>ACA411376149CACNG2c.718A>T (p.Ser240Cys)
c.460A>T (p.Ser154Cys)
c.649A>T (p.Ser217Cys)
n.2084A>T
22g.36564605T>CCA411376153CACNG2c.718A>G (p.Ser240Gly)
c.460A>G (p.Ser154Gly)
c.649A>G (p.Ser217Gly)
n.2084A>G
 dbSNP gnomAD v2 gnomAD v4
22g.36564605T>GCA411376151CACNG2c.718A>C (p.Ser240Arg)
c.460A>C (p.Ser154Arg)
c.649A>C (p.Ser217Arg)
n.2084A>C
22g.36564605T=CA2403929605CACNG2c.718A= (p.Ser240=)
c.460A= (p.Ser154=)
c.649A= (p.Ser217=)
n.2084A=
22g.36564606G>ACA10212118CACNG2c.717C>T (p.Ser239=)
c.459C>T (p.Ser153=)
c.648C>T (p.Ser216=)
n.2083C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.36564606G>CCA514475085CACNG2c.717C>G (p.Ser239=)
c.459C>G (p.Ser153=)
c.648C>G (p.Ser216=)
n.2083C>G
22g.36564606G=CA2403929606CACNG2c.717C= (p.Ser239=)
c.459C= (p.Ser153=)
c.648C= (p.Ser216=)
n.2083C=
22g.36564606G>TCA514475086CACNG2c.717C>A (p.Ser239=)
c.459C>A (p.Ser153=)
c.648C>A (p.Ser216=)
n.2083C>A
22g.36564607G>ACA411376160CACNG2c.716C>T (p.Ser239Phe)
c.458C>T (p.Ser153Phe)
c.647C>T (p.Ser216Phe)
n.2082C>T
22g.36564607G>CCA411376163CACNG2c.716C>G (p.Ser239Cys)
c.458C>G (p.Ser153Cys)
c.647C>G (p.Ser216Cys)
n.2082C>G
22g.36564607G>TCA411376165CACNG2c.716C>A (p.Ser239Tyr)
c.458C>A (p.Ser153Tyr)
c.647C>A (p.Ser216Tyr)
n.2082C>A
22g.36564608A>CCA411376170CACNG2c.715T>G (p.Ser239Ala)
c.457T>G (p.Ser153Ala)
c.646T>G (p.Ser216Ala)
n.2081T>G
22g.36564608A>GCA411376181CACNG2c.715T>C (p.Ser239Pro)
c.457T>C (p.Ser153Pro)
c.646T>C (p.Ser216Pro)
n.2081T>C
22g.36564608A>TCA411376188CACNG2c.715T>A (p.Ser239Thr)
c.457T>A (p.Ser153Thr)
c.646T>A (p.Ser216Thr)
n.2081T>A
22g.36564609G>ACA514475090CACNG2c.714C>T (p.Arg238=)
c.456C>T (p.Arg152=)
c.645C>T (p.Arg215=)
n.2080C>T
22g.36564609G>CCA514475088CACNG2c.714C>G (p.Arg238=)
c.456C>G (p.Arg152=)
c.645C>G (p.Arg215=)
n.2080C>G
22g.36564609G>TCA514475089CACNG2c.714C>A (p.Arg238=)
c.456C>A (p.Arg152=)
c.645C>A (p.Arg215=)
n.2080C>A
22g.36564610C>ACA411376194CACNG2c.713G>T (p.Arg238Leu)
c.455G>T (p.Arg152Leu)
c.644G>T (p.Arg215Leu)
n.2079G>T
22g.36564610C=CA2403929607CACNG2c.713G= (p.Arg238=)
c.455G= (p.Arg152=)
c.644G= (p.Arg215=)
n.2079G=
22g.36564610C>GCA411376199CACNG2c.713G>C (p.Arg238Pro)
c.455G>C (p.Arg152Pro)
c.644G>C (p.Arg215Pro)
n.2079G>C
22g.36564610C>TCA411376202CACNG2c.713G>A (p.Arg238His)
c.455G>A (p.Arg152His)
c.644G>A (p.Arg215His)
n.2079G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.36564611G>ACA411376208CACNG2c.712C>T (p.Arg238Cys)
c.454C>T (p.Arg152Cys)
c.643C>T (p.Arg215Cys)
n.2078C>T
 dbSNP gnomAD v3 gnomAD v4
22g.36564611G>CCA411376213CACNG2c.712C>G (p.Arg238Gly)
c.454C>G (p.Arg152Gly)
c.643C>G (p.Arg215Gly)
n.2078C>G
22g.36564611G=CA2403929608CACNG2c.712C= (p.Arg238=)
c.454C= (p.Arg152=)
c.643C= (p.Arg215=)
n.2078C=
22g.36564611G>TCA411376219CACNG2c.712C>A (p.Arg238Ser)
c.454C>A (p.Arg152Ser)
c.643C>A (p.Arg215Ser)
n.2078C>A
 gnomAD v4
22g.36564612G>ACA514475092CACNG2c.711C>T (p.Ser237=)
c.453C>T (p.Ser151=)
c.642C>T (p.Ser214=)
n.2077C>T
 gnomAD v4
22g.36564612G>CCA411376221CACNG2c.711C>G (p.Ser237Arg)
c.453C>G (p.Ser151Arg)
c.642C>G (p.Ser214Arg)
n.2077C>G
22g.36564612G>TCA411376222CACNG2c.711C>A (p.Ser237Arg)
c.453C>A (p.Ser151Arg)
c.642C>A (p.Ser214Arg)
n.2077C>A
22g.36564613C>ACA411376248CACNG2c.710G>T (p.Ser237Ile)
c.452G>T (p.Ser151Ile)
c.641G>T (p.Ser214Ile)
n.2076G>T
 gnomAD v4
22g.36564613C>GCA411376254CACNG2c.710G>C (p.Ser237Thr)
c.452G>C (p.Ser151Thr)
c.641G>C (p.Ser214Thr)
n.2076G>C
22g.36564613C>TCA411376256CACNG2c.710G>A (p.Ser237Asn)
c.452G>A (p.Ser151Asn)
c.641G>A (p.Ser214Asn)
n.2076G>A
22g.36564614T>ACA411376262CACNG2c.709A>T (p.Ser237Cys)
c.451A>T (p.Ser151Cys)
c.640A>T (p.Ser214Cys)
n.2075A>T
 dbSNP
22g.36564614T>CCA411376279CACNG2c.709A>G (p.Ser237Gly)
c.451A>G (p.Ser151Gly)
c.640A>G (p.Ser214Gly)
n.2075A>G
22g.36564614T>GCA411376284CACNG2c.709A>C (p.Ser237Arg)
c.451A>C (p.Ser151Arg)
c.640A>C (p.Ser214Arg)
n.2075A>C
22g.36564614T=CA2403929609CACNG2c.709A= (p.Ser237=)
c.451A= (p.Ser151=)
c.640A= (p.Ser214=)
n.2075A=
22g.36564615G>ACA514475097CACNG2c.708C>T (p.Arg236=)
c.450C>T (p.Arg150=)
c.639C>T (p.Arg213=)
n.2074C>T
22g.36564615G>CCA514475095CACNG2c.708C>G (p.Arg236=)
c.450C>G (p.Arg150=)
c.639C>G (p.Arg213=)
n.2074C>G
 gnomAD v4
22g.36564615G>TCA514475096CACNG2c.708C>A (p.Arg236=)
c.450C>A (p.Arg150=)
c.639C>A (p.Arg213=)
n.2074C>A
22g.36564616C>ACA411376290CACNG2c.707G>T (p.Arg236Leu)
c.449G>T (p.Arg150Leu)
c.638G>T (p.Arg213Leu)
n.2073G>T
22g.36564616C=CA2403929610CACNG2c.707G= (p.Arg236=)
c.449G= (p.Arg150=)
c.638G= (p.Arg213=)
n.2073G=
22g.36564616C>GCA411376299CACNG2c.707G>C (p.Arg236Pro)
c.449G>C (p.Arg150Pro)
c.638G>C (p.Arg213Pro)
n.2073G>C
 dbSNP gnomAD v2 gnomAD v4
22g.36564616C>TCA411376303CACNG2c.707G>A (p.Arg236His)
c.449G>A (p.Arg150His)
c.638G>A (p.Arg213His)
n.2073G>A
 dbSNP gnomAD v2 gnomAD v4
22g.36564617G>ACA411376311CACNG2c.706C>T (p.Arg236Cys)
c.448C>T (p.Arg150Cys)
c.637C>T (p.Arg213Cys)
n.2072C>T
 dbSNP gnomAD v3 gnomAD v4
22g.36564617G>CCA411376318CACNG2c.706C>G (p.Arg236Gly)
c.448C>G (p.Arg150Gly)
c.637C>G (p.Arg213Gly)
n.2072C>G
 gnomAD v4
22g.36564617G=CA2403929611CACNG2c.706C= (p.Arg236=)
c.448C= (p.Arg150=)
c.637C= (p.Arg213=)
n.2072C=
22g.36564617G>TCA411376322CACNG2c.706C>A (p.Arg236Ser)
c.448C>A (p.Arg150Ser)
c.637C>A (p.Arg213Ser)
n.2072C>A
22g.36564618G>ACA514475099CACNG2c.705C>T (p.Arg235=)
c.447C>T (p.Arg149=)
c.636C>T (p.Arg212=)
n.2071C>T
22g.36564618G>CCA514475100CACNG2c.705C>G (p.Arg235=)
c.447C>G (p.Arg149=)
c.636C>G (p.Arg212=)
n.2071C>G
22g.36564618G=CA2403929612CACNG2c.705C= (p.Arg235=)
c.447C= (p.Arg149=)
c.636C= (p.Arg212=)
n.2071C=
22g.36564618G>TCA514475101CACNG2c.705C>A (p.Arg235=)
c.447C>A (p.Arg149=)
c.636C>A (p.Arg212=)
n.2071C>A
 dbSNP
22g.36564619C>ACA411376336CACNG2c.704G>T (p.Arg235Leu)
c.446G>T (p.Arg149Leu)
c.635G>T (p.Arg212Leu)
n.2070G>T
 dbSNP gnomAD v2 gnomAD v4
22g.36564619C=CA2403929613CACNG2c.704G= (p.Arg235=)
c.446G= (p.Arg149=)
c.635G= (p.Arg212=)
n.2070G=
22g.36564619C>GCA411376332CACNG2c.704G>C (p.Arg235Pro)
c.446G>C (p.Arg149Pro)
c.635G>C (p.Arg212Pro)
n.2070G>C
 dbSNP gnomAD v2 gnomAD v4
22g.36564619C>TCA411376328CACNG2c.704G>A (p.Arg235His)
c.446G>A (p.Arg149His)
c.635G>A (p.Arg212His)
n.2070G>A
 dbSNP gnomAD v2 gnomAD v4
22g.36564620G>ACA411376356CACNG2c.703C>T (p.Arg235Cys)
c.445C>T (p.Arg149Cys)
c.634C>T (p.Arg212Cys)
n.2069C>T
 gnomAD v4 COSMIC
22g.36564620G>CCA411376346CACNG2c.703C>G (p.Arg235Gly)
c.445C>G (p.Arg149Gly)
c.634C>G (p.Arg212Gly)
n.2069C>G
 gnomAD v4
22g.36564620G>TCA411376354CACNG2c.703C>A (p.Arg235Ser)
c.445C>A (p.Arg149Ser)
c.634C>A (p.Arg212Ser)
n.2069C>A
22g.36564621C>ACA411376358CACNG2c.702G>T (p.Gln234His)
c.444G>T (p.Gln148His)
c.633G>T (p.Gln211His)
n.2068G>T
22g.36564621C=CA2403929614CACNG2c.702G= (p.Gln234=)
c.444G= (p.Gln148=)
c.633G= (p.Gln211=)
n.2068G=
22g.36564621C>GCA411376359CACNG2c.702G>C (p.Gln234His)
c.444G>C (p.Gln148His)
c.633G>C (p.Gln211His)
n.2068G>C
22g.36564621C>TCA514475103CACNG2c.702G>A (p.Gln234=)
c.444G>A (p.Gln148=)
c.633G>A (p.Gln211=)
n.2068G>A
 dbSNP
22g.36564622T>ACA411376362CACNG2c.701A>T (p.Gln234Leu)
c.443A>T (p.Gln148Leu)
c.632A>T (p.Gln211Leu)
n.2067A>T
22g.36564622T>CCA411376365CACNG2c.701A>G (p.Gln234Arg)
c.443A>G (p.Gln148Arg)
c.632A>G (p.Gln211Arg)
n.2067A>G
22g.36564622T>GCA323997635CACNG2c.701A>C (p.Gln234Pro)
c.443A>C (p.Gln148Pro)
c.632A>C (p.Gln211Pro)
n.2067A>C
 dbSNP gnomAD v3 gnomAD v4
22g.36564622T=CA2403929615CACNG2c.701A= (p.Gln234=)
c.443A= (p.Gln148=)
c.632A= (p.Gln211=)
n.2067A=
22g.36564623G>ACA411376385CACNG2c.700C>T (p.Gln234Ter)
c.442C>T (p.Gln148Ter)
c.631C>T (p.Gln211Ter)
n.2066C>T
22g.36564623G>CCA411376402CACNG2c.700C>G (p.Gln234Glu)
c.442C>G (p.Gln148Glu)
c.631C>G (p.Gln211Glu)
n.2066C>G
22g.36564623G>TCA411376406CACNG2c.700C>A (p.Gln234Lys)
c.442C>A (p.Gln148Lys)
c.631C>A (p.Gln211Lys)
n.2066C>A
 gnomAD v4
22g.36564635_36564640dupCA639392929CACNG2c.695_700dup (p.Tyr233_Gln234insArgTyr)
c.437_442dup (p.Tyr147_Gln148insArgTyr)
c.626_631dup (p.Tyr210_Gln211insArgTyr)
n.2061_2066dup
 dbSNP gnomAD v2 gnomAD v4
22g.36564635_36564640delCA2577703834CACNG2c.695_700del (p.Arg232_Tyr233del)
c.437_442del (p.Arg146_Tyr147del)
c.626_631del (p.Arg209_Tyr210del)
n.2061_2066del
 gnomAD v4
22g.36564624G>ACA514475104CACNG2c.699C>T (p.Tyr233=)
c.441C>T (p.Tyr147=)
c.630C>T (p.Tyr210=)
n.2065C>T
22g.36564624G>CCA411376407CACNG2c.699C>G (p.Tyr233Ter)
c.441C>G (p.Tyr147Ter)
c.630C>G (p.Tyr210Ter)
n.2065C>G
22g.36564624G>TCA411376408CACNG2c.699C>A (p.Tyr233Ter)
c.441C>A (p.Tyr147Ter)
c.630C>A (p.Tyr210Ter)
n.2065C>A
22g.36564625T>ACA411376414CACNG2c.698A>T (p.Tyr233Phe)
c.440A>T (p.Tyr147Phe)
c.629A>T (p.Tyr210Phe)
n.2064A>T
22g.36564625T>CCA411376417CACNG2c.698A>G (p.Tyr233Cys)
c.440A>G (p.Tyr147Cys)
c.629A>G (p.Tyr210Cys)
n.2064A>G
 gnomAD v4
22g.36564625T>GCA411376410CACNG2c.698A>C (p.Tyr233Ser)
c.440A>C (p.Tyr147Ser)
c.629A>C (p.Tyr210Ser)
n.2064A>C
22g.36564626A>CCA411376423CACNG2c.697T>G (p.Tyr233Asp)
c.439T>G (p.Tyr147Asp)
c.628T>G (p.Tyr210Asp)
n.2063T>G
22g.36564626A>GCA411376428CACNG2c.697T>C (p.Tyr233His)
c.439T>C (p.Tyr147His)
c.628T>C (p.Tyr210His)
n.2063T>C
22g.36564626A>TCA411376429CACNG2c.697T>A (p.Tyr233Asn)
c.439T>A (p.Tyr147Asn)
c.628T>A (p.Tyr210Asn)
n.2063T>A
22g.36564627G>ACA514475107CACNG2c.696C>T (p.Arg232=)
c.438C>T (p.Arg146=)
c.627C>T (p.Arg209=)
n.2062C>T
 gnomAD v4
22g.36564627G>CCA514475109CACNG2c.696C>G (p.Arg232=)
c.438C>G (p.Arg146=)
c.627C>G (p.Arg209=)
n.2062C>G
22g.36564627G>TCA514475110CACNG2c.696C>A (p.Arg232=)
c.438C>A (p.Arg146=)
c.627C>A (p.Arg209=)
n.2062C>A
22g.36564628C>ACA411376431CACNG2c.695G>T (p.Arg232Leu)
c.437G>T (p.Arg146Leu)
c.626G>T (p.Arg209Leu)
n.2061G>T
22g.36564628C=CA2403929616CACNG2c.695G= (p.Arg232=)
c.437G= (p.Arg146=)
c.626G= (p.Arg209=)
n.2061G=
22g.36564628C>GCA411376432CACNG2c.695G>C (p.Arg232Pro)
c.437G>C (p.Arg146Pro)
c.626G>C (p.Arg209Pro)
n.2061G>C
22g.36564628C>TCA411376434CACNG2c.695G>A (p.Arg232His)
c.437G>A (p.Arg146His)
c.626G>A (p.Arg209His)
n.2061G>A
 dbSNP gnomAD v2 gnomAD v4
22g.36564629G>ACA411376437CACNG2c.694C>T (p.Arg232Cys)
c.436C>T (p.Arg146Cys)
c.625C>T (p.Arg209Cys)
n.2060C>T
 dbSNP gnomAD v3 gnomAD v4
22g.36564629G>CCA10212119CACNG2c.694C>G (p.Arg232Gly)
c.436C>G (p.Arg146Gly)
c.625C>G (p.Arg209Gly)
n.2060C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.36564629G=CA2403929617CACNG2c.694C= (p.Arg232=)
c.436C= (p.Arg146=)
c.625C= (p.Arg209=)
n.2060C=
22g.36564629G>TCA411376443CACNG2c.694C>A (p.Arg232Ser)
c.436C>A (p.Arg146Ser)
c.625C>A (p.Arg209Ser)
n.2060C>A
 gnomAD v4
22g.36564630G>ACA514475113CACNG2c.693C>T (p.Tyr231=)
c.435C>T (p.Tyr145=)
c.624C>T (p.Tyr208=)
n.2059C>T
 COSMIC
22g.36564630G>CCA411376455CACNG2c.693C>G (p.Tyr231Ter)
c.435C>G (p.Tyr145Ter)
c.624C>G (p.Tyr208Ter)
n.2059C>G
22g.36564630G>TCA411376460CACNG2c.693C>A (p.Tyr231Ter)
c.435C>A (p.Tyr145Ter)
c.624C>A (p.Tyr208Ter)
n.2059C>A
22g.36564631T>ACA411376464CACNG2c.692A>T (p.Tyr231Phe)
c.434A>T (p.Tyr145Phe)
c.623A>T (p.Tyr208Phe)
n.2058A>T
22g.36564631T>CCA411376467CACNG2c.692A>G (p.Tyr231Cys)
c.434A>G (p.Tyr145Cys)
c.623A>G (p.Tyr208Cys)
n.2058A>G
22g.36564631T>GCA411376479CACNG2c.692A>C (p.Tyr231Ser)
c.434A>C (p.Tyr145Ser)
c.623A>C (p.Tyr208Ser)
n.2058A>C
22g.36564632A=CA2403929618CACNG2c.691T= (p.Tyr231=)
c.433T= (p.Tyr145=)
c.622T= (p.Tyr208=)
n.2057T=
22g.36564632A>CCA411376485CACNG2c.691T>G (p.Tyr231Asp)
c.433T>G (p.Tyr145Asp)
c.622T>G (p.Tyr208Asp)
n.2057T>G
22g.36564632A>GCA411376489CACNG2c.691T>C (p.Tyr231His)
c.433T>C (p.Tyr145His)
c.622T>C (p.Tyr208His)
n.2057T>C
 dbSNP gnomAD v2 gnomAD v4
22g.36564632A>TCA411376483CACNG2c.691T>A (p.Tyr231Asn)
c.433T>A (p.Tyr145Asn)
c.622T>A (p.Tyr208Asn)
n.2057T>A
 gnomAD v4
22g.36564633G>ACA514475115CACNG2c.690C>T (p.Arg230=)
c.432C>T (p.Arg144=)
c.621C>T (p.Arg207=)
n.2056C>T
22g.36564633G>CCA514475116CACNG2c.690C>G (p.Arg230=)
c.432C>G (p.Arg144=)
c.621C>G (p.Arg207=)
n.2056C>G
22g.36564633G>TCA514475117CACNG2c.690C>A (p.Arg230=)
c.432C>A (p.Arg144=)
c.621C>A (p.Arg207=)
n.2056C>A
22g.36564634C>ACA411376491CACNG2c.689G>T (p.Arg230Leu)
c.431G>T (p.Arg144Leu)
c.620G>T (p.Arg207Leu)
n.2055G>T
22g.36564634C=CA2403929619CACNG2c.689G= (p.Arg230=)
c.431G= (p.Arg144=)
c.620G= (p.Arg207=)
n.2055G=
22g.36564634C>GCA411376500CACNG2c.689G>C (p.Arg230Pro)
c.431G>C (p.Arg144Pro)
c.620G>C (p.Arg207Pro)
n.2055G>C
 gnomAD v4
22g.36564634C>TCA10212120CACNG2c.689G>A (p.Arg230His)
c.431G>A (p.Arg144His)
c.620G>A (p.Arg207His)
n.2055G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.36564635G>ACA411376509CACNG2c.688C>T (p.Arg230Cys)
c.430C>T (p.Arg144Cys)
c.619C>T (p.Arg207Cys)
n.2054C>T
 dbSNP gnomAD v2 gnomAD v4
22g.36564635G>CCA411376510CACNG2c.688C>G (p.Arg230Gly)
c.430C>G (p.Arg144Gly)
c.619C>G (p.Arg207Gly)
n.2054C>G
 gnomAD v4
22g.36564635G=CA2403929620CACNG2c.688C= (p.Arg230=)
c.430C= (p.Arg144=)
c.619C= (p.Arg207=)
n.2054C=
22g.36564635G>TCA411376511CACNG2c.688C>A (p.Arg230Ser)
c.430C>A (p.Arg144Ser)
c.619C>A (p.Arg207Ser)
n.2054C>A
 dbSNP
22g.36564636G>ACA10212121CACNG2c.687C>T (p.Tyr229=)
c.429C>T (p.Tyr143=)
c.618C>T (p.Tyr206=)
n.2053C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.36564636G>CCA411376527CACNG2c.687C>G (p.Tyr229Ter)
c.429C>G (p.Tyr143Ter)
c.618C>G (p.Tyr206Ter)
n.2053C>G
22g.36564636G=CA2403929621CACNG2c.687C= (p.Tyr229=)
c.429C= (p.Tyr143=)
c.618C= (p.Tyr206=)
n.2053C=
22g.36564636G>TCA411376534CACNG2c.687C>A (p.Tyr229Ter)
c.429C>A (p.Tyr143Ter)
c.618C>A (p.Tyr206Ter)
n.2053C>A
22g.36564637T>ACA411376535CACNG2c.686A>T (p.Tyr229Phe)
c.428A>T (p.Tyr143Phe)
c.617A>T (p.Tyr206Phe)
n.2052A>T
22g.36564637T>CCA411376536CACNG2c.686A>G (p.Tyr229Cys)
c.428A>G (p.Tyr143Cys)
c.617A>G (p.Tyr206Cys)
n.2052A>G
22g.36564637T>GCA411376538CACNG2c.686A>C (p.Tyr229Ser)
c.428A>C (p.Tyr143Ser)
c.617A>C (p.Tyr206Ser)
n.2052A>C
22g.36564638A>CCA411376543CACNG2c.685T>G (p.Tyr229Asp)
c.427T>G (p.Tyr143Asp)
c.616T>G (p.Tyr206Asp)
n.2051T>G
22g.36564638A>GCA411376557CACNG2c.685T>C (p.Tyr229His)
c.427T>C (p.Tyr143His)
c.616T>C (p.Tyr206His)
n.2051T>C
22g.36564638A>TCA411376566CACNG2c.685T>A (p.Tyr229Asn)
c.427T>A (p.Tyr143Asn)
c.616T>A (p.Tyr206Asn)
n.2051T>A
22g.36564639G>ACA514475123CACNG2c.684C>T (p.Ser228=)
c.426C>T (p.Ser142=)
c.615C>T (p.Ser205=)
n.2050C>T
22g.36564639G>CCA411376568CACNG2c.684C>G (p.Ser228Arg)
c.426C>G (p.Ser142Arg)
c.615C>G (p.Ser205Arg)
n.2050C>G
22g.36564639G>TCA411376573CACNG2c.684C>A (p.Ser228Arg)
c.426C>A (p.Ser142Arg)
c.615C>A (p.Ser205Arg)
n.2050C>A
22g.36564640C>ACA411376579CACNG2c.683G>T (p.Ser228Ile)
c.425G>T (p.Ser142Ile)
c.614G>T (p.Ser205Ile)
n.2049G>T
22g.36564640C=CA2403929622CACNG2c.683G= (p.Ser228=)
c.425G= (p.Ser142=)
c.614G= (p.Ser205=)
n.2049G=
22g.36564640C>GCA411376582CACNG2c.683G>C (p.Ser228Thr)
c.425G>C (p.Ser142Thr)
c.614G>C (p.Ser205Thr)
n.2049G>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
22g.36564640C>TCA411376590CACNG2c.683G>A (p.Ser228Asn)
c.425G>A (p.Ser142Asn)
c.614G>A (p.Ser205Asn)
n.2049G>A
 gnomAD v4
22g.36564641T>ACA411376594CACNG2c.682A>T (p.Ser228Cys)
c.424A>T (p.Ser142Cys)
c.613A>T (p.Ser205Cys)
n.2048A>T
22g.36564641T>CCA411376616CACNG2c.682A>G (p.Ser228Gly)
c.424A>G (p.Ser142Gly)
c.613A>G (p.Ser205Gly)
n.2048A>G
 gnomAD v4
22g.36564641T>GCA411376629CACNG2c.682A>C (p.Ser228Arg)
c.424A>C (p.Ser142Arg)
c.613A>C (p.Ser205Arg)
n.2048A>C
22g.36564642G>ACA514475125CACNG2c.681C>T (p.Pro227=)
c.423C>T (p.Pro141=)
c.612C>T (p.Pro204=)
n.2047C>T
 dbSNP gnomAD v2 gnomAD v4
22g.36564642G>CCA514475126CACNG2c.681C>G (p.Pro227=)
c.423C>G (p.Pro141=)
c.612C>G (p.Pro204=)
n.2047C>G
22g.36564642G=CA2403929623CACNG2c.681C= (p.Pro227=)
c.423C= (p.Pro141=)
c.612C= (p.Pro204=)
n.2047C=
22g.36564642G>TCA514475127CACNG2c.681C>A (p.Pro227=)
c.423C>A (p.Pro141=)
c.612C>A (p.Pro204=)
n.2047C>A
22g.36564643G>ACA411376635CACNG2c.680C>T (p.Pro227Leu)
c.422C>T (p.Pro141Leu)
c.611C>T (p.Pro204Leu)
n.2046C>T
22g.36564643G>CCA411376637CACNG2c.680C>G (p.Pro227Arg)
c.422C>G (p.Pro141Arg)
c.611C>G (p.Pro204Arg)
n.2046C>G
 gnomAD v4
22g.36564643G>TCA411376641CACNG2c.680C>A (p.Pro227His)
c.422C>A (p.Pro141His)
c.611C>A (p.Pro204His)
n.2046C>A
22g.36564644G>ACA411376646CACNG2c.679C>T (p.Pro227Ser)
c.421C>T (p.Pro141Ser)
c.610C>T (p.Pro204Ser)
n.2045C>T
22g.36564644G>CCA411376648CACNG2c.679C>G (p.Pro227Ala)
c.421C>G (p.Pro141Ala)
c.610C>G (p.Pro204Ala)
n.2045C>G
22g.36564644G>TCA411376653CACNG2c.679C>A (p.Pro227Thr)
c.421C>A (p.Pro141Thr)
c.610C>A (p.Pro204Thr)
n.2045C>A
22g.36564645G>ACA514475131CACNG2c.678C>T (p.Ile226=)
c.420C>T (p.Ile140=)
c.609C>T (p.Ile203=)
n.2044C>T
22g.36564645G>CCA411376656CACNG2c.678C>G (p.Ile226Met)
c.420C>G (p.Ile140Met)
c.609C>G (p.Ile203Met)
n.2044C>G
22g.36564645G>TCA514475132CACNG2c.678C>A (p.Ile226=)
c.420C>A (p.Ile140=)
c.609C>A (p.Ile203=)
n.2044C>A
22g.36564646A>CCA411376658CACNG2c.677T>G (p.Ile226Ser)
c.419T>G (p.Ile140Ser)
c.608T>G (p.Ile203Ser)
n.2043T>G
22g.36564646A>GCA411376665CACNG2c.677T>C (p.Ile226Thr)
c.419T>C (p.Ile140Thr)
c.608T>C (p.Ile203Thr)
n.2043T>C
22g.36564646A>TCA411376660CACNG2c.677T>A (p.Ile226Asn)
c.419T>A (p.Ile140Asn)
c.608T>A (p.Ile203Asn)
n.2043T>A
22g.36564647T>ACA411376670CACNG2c.676A>T (p.Ile226Phe)
c.418A>T (p.Ile140Phe)
c.607A>T (p.Ile203Phe)
n.2042A>T
22g.36564647T>CCA411376680CACNG2c.676A>G (p.Ile226Val)
c.418A>G (p.Ile140Val)
c.607A>G (p.Ile203Val)
n.2042A>G
22g.36564647T>GCA411376682CACNG2c.676A>C (p.Ile226Leu)
c.418A>C (p.Ile140Leu)
c.607A>C (p.Ile203Leu)
n.2042A>C
22g.36564648G>ACA514475136CACNG2c.675C>T (p.Arg225=)
c.417C>T (p.Arg139=)
c.606C>T (p.Arg202=)
n.2041C>T
22g.36564648G>CCA514475139CACNG2c.675C>G (p.Arg225=)
c.417C>G (p.Arg139=)
c.606C>G (p.Arg202=)
n.2041C>G
22g.36564648G>TCA514475137CACNG2c.675C>A (p.Arg225=)
c.417C>A (p.Arg139=)
c.606C>A (p.Arg202=)
n.2041C>A
22g.36564649C>ACA411376688CACNG2c.674G>T (p.Arg225Leu)
c.416G>T (p.Arg139Leu)
c.605G>T (p.Arg202Leu)
n.2040G>T
 gnomAD v4
22g.36564649C>GCA411376690CACNG2c.674G>C (p.Arg225Pro)
c.416G>C (p.Arg139Pro)
c.605G>C (p.Arg202Pro)
n.2040G>C
22g.36564649C>TCA411376691CACNG2c.674G>A (p.Arg225His)
c.416G>A (p.Arg139His)
c.605G>A (p.Arg202His)
n.2040G>A
 gnomAD v4
22g.36564650G>ACA323997638CACNG2c.673C>T (p.Arg225Cys)
c.415C>T (p.Arg139Cys)
c.604C>T (p.Arg202Cys)
n.2039C>T
 dbSNP gnomAD v3 gnomAD v4
22g.36564650G>CCA411376698CACNG2c.673C>G (p.Arg225Gly)
c.415C>G (p.Arg139Gly)
c.604C>G (p.Arg202Gly)
n.2039C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.36564650G=CA2403929624CACNG2c.673C= (p.Arg225=)
c.415C= (p.Arg139=)
c.604C= (p.Arg202=)
n.2039C=
22g.36564650G>TCA411376703CACNG2c.673C>A (p.Arg225Ser)
c.415C>A (p.Arg139Ser)
c.604C>A (p.Arg202Ser)
n.2039C>A
22g.36564651G>ACA514475141CACNG2c.672C>T (p.Thr224=)
c.414C>T (p.Thr138=)
c.603C>T (p.Thr201=)
n.2038C>T
22g.36564651G>CCA514475143CACNG2c.672C>G (p.Thr224=)
c.414C>G (p.Thr138=)
c.603C>G (p.Thr201=)
n.2038C>G
22g.36564651G>TCA514475144CACNG2c.672C>A (p.Thr224=)
c.414C>A (p.Thr138=)
c.603C>A (p.Thr201=)
n.2038C>A
22g.36564652G>ACA411376705CACNG2c.671C>T (p.Thr224Ile)
c.413C>T (p.Thr138Ile)
c.602C>T (p.Thr201Ile)
n.2037C>T
 gnomAD v4
22g.36564652G>CCA411376706CACNG2c.671C>G (p.Thr224Ser)
c.413C>G (p.Thr138Ser)
c.602C>G (p.Thr201Ser)
n.2037C>G
22g.36564652G>TCA411376708CACNG2c.671C>A (p.Thr224Asn)
c.413C>A (p.Thr138Asn)
c.602C>A (p.Thr201Asn)
n.2037C>A
 gnomAD v4
22g.36564653T>ACA411376726CACNG2c.670A>T (p.Thr224Ser)
c.412A>T (p.Thr138Ser)
c.601A>T (p.Thr201Ser)
n.2036A>T
22g.36564653T>CCA411376712CACNG2c.670A>G (p.Thr224Ala)
c.412A>G (p.Thr138Ala)
c.601A>G (p.Thr201Ala)
n.2036A>G
22g.36564653T>GCA411376721CACNG2c.670A>C (p.Thr224Pro)
c.412A>C (p.Thr138Pro)
c.601A>C (p.Thr201Pro)
n.2036A>C
 dbSNP
22g.36564653T=CA2403929625CACNG2c.670A= (p.Thr224=)
c.412A= (p.Thr138=)
c.601A= (p.Thr201=)
n.2036A=
22g.36564654G>ACA514475145CACNG2c.669C>T (p.Ile223=)
c.411C>T (p.Ile137=)
c.600C>T (p.Ile200=)
n.2035C>T
22g.36564654G>CCA10212122CACNG2c.669C>G (p.Ile223Met)
c.411C>G (p.Ile137Met)
c.600C>G (p.Ile200Met)
n.2035C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.36564654G=CA2403929626CACNG2c.669C= (p.Ile223=)
c.411C= (p.Ile137=)
c.600C= (p.Ile200=)
n.2035C=
22g.36564654G>TCA10212123CACNG2c.669C>A (p.Ile223=)
c.411C>A (p.Ile137=)
c.600C>A (p.Ile200=)
n.2035C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.36564655A>CCA411376756CACNG2c.668T>G (p.Ile223Ser)
c.410T>G (p.Ile137Ser)
c.599T>G (p.Ile200Ser)
n.2034T>G
22g.36564655A>GCA411376757CACNG2c.668T>C (p.Ile223Thr)
c.410T>C (p.Ile137Thr)
c.599T>C (p.Ile200Thr)
n.2034T>C
 gnomAD v4
22g.36564655A>TCA411376760CACNG2c.668T>A (p.Ile223Asn)
c.410T>A (p.Ile137Asn)
c.599T>A (p.Ile200Asn)
n.2034T>A
22g.36564656T>ACA411376768CACNG2c.667A>T (p.Ile223Phe)
c.409A>T (p.Ile137Phe)
c.598A>T (p.Ile200Phe)
n.2033A>T
22g.36564656T>CCA411376770CACNG2c.667A>G (p.Ile223Val)
c.409A>G (p.Ile137Val)
c.598A>G (p.Ile200Val)
n.2033A>G
22g.36564656T>GCA411376773CACNG2c.667A>C (p.Ile223Leu)
c.409A>C (p.Ile137Leu)
c.598A>C (p.Ile200Leu)
n.2033A>C
22g.36564657G>ACA514475150CACNG2c.666C>T (p.Ala222=)
c.408C>T (p.Ala136=)
c.597C>T (p.Ala199=)
n.2032C>T
22g.36564657G>CCA514475151CACNG2c.666C>G (p.Ala222=)
c.408C>G (p.Ala136=)
c.597C>G (p.Ala199=)
n.2032C>G
22g.36564657G>TCA514475149CACNG2c.666C>A (p.Ala222=)
c.408C>A (p.Ala136=)
c.597C>A (p.Ala199=)
n.2032C>A
22g.36564658G>ACA411376781CACNG2c.665C>T (p.Ala222Val)
c.407C>T (p.Ala136Val)
c.596C>T (p.Ala199Val)
n.2031C>T
22g.36564658G>CCA411376784CACNG2c.665C>G (p.Ala222Gly)
c.407C>G (p.Ala136Gly)
c.596C>G (p.Ala199Gly)
n.2031C>G
22g.36564658G>TCA411376785CACNG2c.665C>A (p.Ala222Asp)
c.407C>A (p.Ala136Asp)
c.596C>A (p.Ala199Asp)
n.2031C>A
22g.36564659C>ACA411376787CACNG2c.664G>T (p.Ala222Ser)
c.406G>T (p.Ala136Ser)
c.595G>T (p.Ala199Ser)
n.2030G>T
22g.36564659C>GCA411376800CACNG2c.664G>C (p.Ala222Pro)
c.406G>C (p.Ala136Pro)
c.595G>C (p.Ala199Pro)
n.2030G>C
22g.36564659C>TCA411376789CACNG2c.664G>A (p.Ala222Thr)
c.406G>A (p.Ala136Thr)
c.595G>A (p.Ala199Thr)
n.2030G>A
22g.36564660A>CCA514475153CACNG2c.663T>G (p.Ser221=)
c.405T>G (p.Ser135=)
c.594T>G (p.Ser198=)
n.2029T>G
22g.36564660A>GCA514475154CACNG2c.663T>C (p.Ser221=)
c.405T>C (p.Ser135=)
c.594T>C (p.Ser198=)
n.2029T>C
22g.36564660A>TCA514475156CACNG2c.663T>A (p.Ser221=)
c.405T>A (p.Ser135=)
c.594T>A (p.Ser198=)
n.2029T>A
22g.36564661G>ACA411376803CACNG2c.662C>T (p.Ser221Phe)
c.404C>T (p.Ser135Phe)
c.593C>T (p.Ser198Phe)
n.2028C>T
22g.36564661G>CCA411376816CACNG2c.662C>G (p.Ser221Cys)
c.404C>G (p.Ser135Cys)
c.593C>G (p.Ser198Cys)
n.2028C>G
22g.36564661G>TCA411376810CACNG2c.662C>A (p.Ser221Tyr)
c.404C>A (p.Ser135Tyr)
c.593C>A (p.Ser198Tyr)
n.2028C>A
22g.36564662A>CCA411376821CACNG2c.661T>G (p.Ser221Ala)
c.403T>G (p.Ser135Ala)
c.592T>G (p.Ser198Ala)
n.2027T>G
22g.36564662A>GCA411376825CACNG2c.661T>C (p.Ser221Pro)
c.403T>C (p.Ser135Pro)
c.592T>C (p.Ser198Pro)
n.2027T>C
22g.36564662A>TCA411376824CACNG2c.661T>A (p.Ser221Thr)
c.403T>A (p.Ser135Thr)
c.592T>A (p.Ser198Thr)
n.2027T>A
22g.36564663G>ACA323997643CACNG2c.660C>T (p.Ala220=)
c.402C>T (p.Ala134=)
c.591C>T (p.Ala197=)
n.2026C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.36564663G>CCA514475157CACNG2c.660C>G (p.Ala220=)
c.402C>G (p.Ala134=)
c.591C>G (p.Ala197=)
n.2026C>G
 dbSNP gnomAD v2
22g.36564663G=CA2403929627CACNG2c.660C= (p.Ala220=)
c.402C= (p.Ala134=)
c.591C= (p.Ala197=)
n.2026C=
22g.36564663G>TCA514475158CACNG2c.660C>A (p.Ala220=)
c.402C>A (p.Ala134=)
c.591C>A (p.Ala197=)
n.2026C>A
22g.36564664G>ACA411376826CACNG2c.659C>T (p.Ala220Val)
c.401C>T (p.Ala134Val)
c.590C>T (p.Ala197Val)
n.2025C>T
 gnomAD v4
22g.36564664G>CCA411376827CACNG2c.659C>G (p.Ala220Gly)
c.401C>G (p.Ala134Gly)
c.590C>G (p.Ala197Gly)
n.2025C>G
22g.36564664G=CA2403929628CACNG2c.659C= (p.Ala220=)
c.401C= (p.Ala134=)
c.590C= (p.Ala197=)
n.2025C=
22g.36564664G>TCA411376828CACNG2c.659C>A (p.Ala220Asp)
c.401C>A (p.Ala134Asp)
c.590C>A (p.Ala197Asp)
n.2025C>A
 dbSNP gnomAD v2
22g.36564665C>ACA10212124CACNG2c.658G>T (p.Ala220Ser)
c.400G>T (p.Ala134Ser)
c.589G>T (p.Ala197Ser)
n.2024G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.36564665C=CA2403929629CACNG2c.658G= (p.Ala220=)
c.400G= (p.Ala134=)
c.589G= (p.Ala197=)
n.2024G=
22g.36564665C>GCA411376833CACNG2c.658G>C (p.Ala220Pro)
c.400G>C (p.Ala134Pro)
c.589G>C (p.Ala197Pro)
n.2024G>C
22g.36564665C>TCA10212125CACNG2c.658G>A (p.Ala220Thr)
c.400G>A (p.Ala134Thr)
c.589G>A (p.Ala197Thr)
n.2024G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.36564666C>ACA411376838CACNG2c.657G>T (p.Gln219His)
c.399G>T (p.Gln133His)
c.588G>T (p.Gln196His)
n.2023G>T
22g.36564666C>GCA411376842CACNG2c.657G>C (p.Gln219His)
c.399G>C (p.Gln133His)
c.588G>C (p.Gln196His)
n.2023G>C
22g.36564666C>TCA514475160CACNG2c.657G>A (p.Gln219=)
c.399G>A (p.Gln133=)
c.588G>A (p.Gln196=)
n.2023G>A
22g.36564667T>ACA411376846CACNG2c.656A>T (p.Gln219Leu)
c.398A>T (p.Gln133Leu)
c.587A>T (p.Gln196Leu)
n.2022A>T
22g.36564667T>CCA411376847CACNG2c.656A>G (p.Gln219Arg)
c.398A>G (p.Gln133Arg)
c.587A>G (p.Gln196Arg)
n.2022A>G
 gnomAD v4
22g.36564667T>GCA411376848CACNG2c.656A>C (p.Gln219Pro)
c.398A>C (p.Gln133Pro)
c.587A>C (p.Gln196Pro)
n.2022A>C
22g.36564668G>ACA411376851CACNG2c.655C>T (p.Gln219Ter)
c.397C>T (p.Gln133Ter)
c.586C>T (p.Gln196Ter)
n.2021C>T
22g.36564668G>CCA411376853CACNG2c.655C>G (p.Gln219Glu)
c.397C>G (p.Gln133Glu)
c.586C>G (p.Gln196Glu)
n.2021C>G
22g.36564668G>TCA411376855CACNG2c.655C>A (p.Gln219Lys)
c.397C>A (p.Gln133Lys)
c.586C>A (p.Gln196Lys)
n.2021C>A
22g.36564669G>ACA514475163CACNG2c.654C>T (p.Leu218=)
c.396C>T (p.Leu132=)
c.585C>T (p.Leu195=)
n.2020C>T
 COSMIC
22g.36564669G>CCA514475164CACNG2c.654C>G (p.Leu218=)
c.396C>G (p.Leu132=)
c.585C>G (p.Leu195=)
n.2020C>G
22g.36564669G>TCA514475166CACNG2c.654C>A (p.Leu218=)
c.396C>A (p.Leu132=)
c.585C>A (p.Leu195=)
n.2020C>A
22g.36564670A>CCA411376858CACNG2c.653T>G (p.Leu218Arg)
c.395T>G (p.Leu132Arg)
c.584T>G (p.Leu195Arg)
n.2019T>G
22g.36564670A>GCA411376857CACNG2c.653T>C (p.Leu218Pro)
c.395T>C (p.Leu132Pro)
c.584T>C (p.Leu195Pro)
n.2019T>C
22g.36564670A>TCA411376856CACNG2c.653T>A (p.Leu218His)
c.395T>A (p.Leu132His)
c.584T>A (p.Leu195His)
n.2019T>A
22g.36564671G>ACA411376859CACNG2c.652C>T (p.Leu218Phe)
c.394C>T (p.Leu132Phe)
c.583C>T (p.Leu195Phe)
n.2018C>T
22g.36564671G>CCA411376862CACNG2c.652C>G (p.Leu218Val)
c.394C>G (p.Leu132Val)
c.583C>G (p.Leu195Val)
n.2018C>G
22g.36564671G>TCA411376863CACNG2c.652C>A (p.Leu218Ile)
c.394C>A (p.Leu132Ile)
c.583C>A (p.Leu195Ile)
n.2018C>A
22g.36564672G>ACA10212126CACNG2c.651C>T (p.Tyr217=)
c.393C>T (p.Tyr131=)
c.582C>T (p.Tyr194=)
n.2017C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.36564672G>CCA411376867CACNG2c.651C>G (p.Tyr217Ter)
c.393C>G (p.Tyr131Ter)
c.582C>G (p.Tyr194Ter)
n.2017C>G
22g.36564672G=CA2403929630CACNG2c.651C= (p.Tyr217=)
c.393C= (p.Tyr131=)
c.582C= (p.Tyr194=)
n.2017C=
22g.36564672G>TCA411376868CACNG2c.651C>A (p.Tyr217Ter)
c.393C>A (p.Tyr131Ter)
c.582C>A (p.Tyr194Ter)
n.2017C>A
22g.36564673T>ACA411376872CACNG2c.650A>T (p.Tyr217Phe)
c.392A>T (p.Tyr131Phe)
c.581A>T (p.Tyr194Phe)
n.2016A>T
22g.36564673T>CCA411376875CACNG2c.650A>G (p.Tyr217Cys)
c.392A>G (p.Tyr131Cys)
c.581A>G (p.Tyr194Cys)
n.2016A>G
22g.36564673T>GCA323997659CACNG2c.650A>C (p.Tyr217Ser)
c.392A>C (p.Tyr131Ser)
c.581A>C (p.Tyr194Ser)
n.2016A>C
 dbSNP
22g.36564673T=CA2403929631CACNG2c.650A= (p.Tyr217=)
c.392A= (p.Tyr131=)
c.581A= (p.Tyr194=)
n.2016A=
22g.36564674A=CA2403929632CACNG2c.649T= (p.Tyr217=)
c.391T= (p.Tyr131=)
c.580T= (p.Tyr194=)
n.2015T=
22g.36564674A>CCA411376879CACNG2c.649T>G (p.Tyr217Asp)
c.391T>G (p.Tyr131Asp)
c.580T>G (p.Tyr194Asp)
n.2015T>G
22g.36564674A>GCA323997663CACNG2c.649T>C (p.Tyr217His)
c.391T>C (p.Tyr131His)
c.580T>C (p.Tyr194His)
n.2015T>C
 dbSNP
22g.36564674A>TCA411376883CACNG2c.649T>A (p.Tyr217Asn)
c.391T>A (p.Tyr131Asn)
c.580T>A (p.Tyr194Asn)
n.2015T>A
 dbSNP gnomAD v3 gnomAD v4
22g.36564675G>ACA514475169CACNG2c.648C>T (p.Asp216=)
c.390C>T (p.Asp130=)
c.579C>T (p.Asp193=)
n.2014C>T
22g.36564675G>CCA411376893CACNG2c.648C>G (p.Asp216Glu)
c.390C>G (p.Asp130Glu)
c.579C>G (p.Asp193Glu)
n.2014C>G
22g.36564675G=CA2403929633CACNG2c.648C= (p.Asp216=)
c.390C= (p.Asp130=)
c.579C= (p.Asp193=)
n.2014C=
22g.36564675G>TCA411376894CACNG2c.648C>A (p.Asp216Glu)
c.390C>A (p.Asp130Glu)
c.579C>A (p.Asp193Glu)
n.2014C>A
 dbSNP gnomAD v4
22g.36564676T>ACA411376898CACNG2c.647A>T (p.Asp216Val)
c.389A>T (p.Asp130Val)
c.578A>T (p.Asp193Val)
n.2013A>T
22g.36564676T>CCA411376899CACNG2c.647A>G (p.Asp216Gly)
c.389A>G (p.Asp130Gly)
c.578A>G (p.Asp193Gly)
n.2013A>G
22g.36564676T>GCA411376895CACNG2c.647A>C (p.Asp216Ala)
c.389A>C (p.Asp130Ala)
c.578A>C (p.Asp193Ala)
n.2013A>C
22g.36564677C>ACA411376900CACNG2c.646G>T (p.Asp216Tyr)
c.388G>T (p.Asp130Tyr)
c.577G>T (p.Asp193Tyr)
n.2012G>T
22g.36564677C>GCA411376901CACNG2c.646G>C (p.Asp216His)
c.388G>C (p.Asp130His)
c.577G>C (p.Asp193His)
n.2012G>C
22g.36564677C>TCA411376902CACNG2c.646G>A (p.Asp216Asn)
c.388G>A (p.Asp130Asn)
c.577G>A (p.Asp193Asn)
n.2012G>A
22g.36564678C>ACA514475171CACNG2c.645G>T (p.Thr215=)
c.387G>T (p.Thr129=)
c.576G>T (p.Thr192=)
n.2011G>T
22g.36564678C=CA2403929634CACNG2c.645G= (p.Thr215=)
c.387G= (p.Thr129=)
c.576G= (p.Thr192=)
n.2011G=
22g.36564678C>GCA514475173CACNG2c.645G>C (p.Thr215=)
c.387G>C (p.Thr129=)
c.576G>C (p.Thr192=)
n.2011G>C
 dbSNP gnomAD v2 gnomAD v4
22g.36564678C>TCA10212127CACNG2c.645G>A (p.Thr215=)
c.387G>A (p.Thr129=)
c.576G>A (p.Thr192=)
n.2011G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.36564679G>ACA411376903CACNG2c.644C>T (p.Thr215Met)
c.386C>T (p.Thr129Met)
c.575C>T (p.Thr192Met)
n.2010C>T
 gnomAD v4
22g.36564679G>CCA411376904CACNG2c.644C>G (p.Thr215Arg)
c.386C>G (p.Thr129Arg)
c.575C>G (p.Thr192Arg)
n.2010C>G
22g.36564679G>TCA411376905CACNG2c.644C>A (p.Thr215Lys)
c.386C>A (p.Thr129Lys)
c.575C>A (p.Thr192Lys)
n.2010C>A
 gnomAD v4
22g.36564680T>ACA411376906CACNG2c.643A>T (p.Thr215Ser)
c.385A>T (p.Thr129Ser)
c.574A>T (p.Thr192Ser)
n.2009A>T
 gnomAD v4
22g.36564680T>CCA411376923CACNG2c.643A>G (p.Thr215Ala)
c.385A>G (p.Thr129Ala)
c.574A>G (p.Thr192Ala)
n.2009A>G
 dbSNP gnomAD v4
22g.36564680T>GCA411376918CACNG2c.643A>C (p.Thr215Pro)
c.385A>C (p.Thr129Pro)
c.574A>C (p.Thr192Pro)
n.2009A>C
22g.36564680T=CA2403929635CACNG2c.643A= (p.Thr215=)
c.385A= (p.Thr129=)
c.574A= (p.Thr192=)
n.2009A=
22g.36564681G>ACA514475174CACNG2c.642C>T (p.Ala214=)
c.384C>T (p.Ala128=)
c.573C>T (p.Ala191=)
n.2008C>T
 gnomAD v4
22g.36564681G>CCA10212128CACNG2c.642C>G (p.Ala214=)
c.384C>G (p.Ala128=)
c.573C>G (p.Ala191=)
n.2008C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.36564681G=CA2403929636CACNG2c.642C= (p.Ala214=)
c.384C= (p.Ala128=)
c.573C= (p.Ala191=)
n.2008C=
22g.36564681G>TCA514475175CACNG2c.642C>A (p.Ala214=)
c.384C>A (p.Ala128=)
c.573C>A (p.Ala191=)
n.2008C>A
22g.36564682G>ACA411376929CACNG2c.641C>T (p.Ala214Val)
c.383C>T (p.Ala128Val)
c.572C>T (p.Ala191Val)
n.2007C>T
 dbSNP gnomAD v2 gnomAD v4
22g.36564682G>CCA411376931CACNG2c.641C>G (p.Ala214Gly)
c.383C>G (p.Ala128Gly)
c.572C>G (p.Ala191Gly)
n.2007C>G
22g.36564682G=CA2403929637CACNG2c.641C= (p.Ala214=)
c.383C= (p.Ala128=)
c.572C= (p.Ala191=)
n.2007C=
22g.36564682G>TCA411376934CACNG2c.641C>A (p.Ala214Asp)
c.383C>A (p.Ala128Asp)
c.572C>A (p.Ala191Asp)
n.2007C>A
22g.36564683C>ACA411376947CACNG2c.640G>T (p.Ala214Ser)
c.382G>T (p.Ala128Ser)
c.571G>T (p.Ala191Ser)
n.2006G>T
22g.36564683C=CA2403929638CACNG2c.640G= (p.Ala214=)
c.382G= (p.Ala128=)
c.571G= (p.Ala191=)
n.2006G=
22g.36564683C>GCA411376951CACNG2c.640G>C (p.Ala214Pro)
c.382G>C (p.Ala128Pro)
c.571G>C (p.Ala191Pro)
n.2006G>C
22g.36564683C>TCA10212129CACNG2c.640G>A (p.Ala214Thr)
c.382G>A (p.Ala128Thr)
c.571G>A (p.Ala191Thr)
n.2006G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched