Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.21568201G>ACA338879341ALPLc.746G>A (p.Gly249Asp)
c.515G>A (p.Gly172Asp)
c.581G>A (p.Gly194Asp)
c.590G>A (p.Gly197Asp)
1g.21568201G>CCA666594ALPLc.746G>C (p.Gly249Ala)
c.515G>C (p.Gly172Ala)
c.581G>C (p.Gly194Ala)
c.590G>C (p.Gly197Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21568201G=CA1141580641ALPLc.746G= (p.Gly249=)
c.515G= (p.Gly172=)
c.581G= (p.Gly194=)
c.590G= (p.Gly197=)
1g.21568201G>TCA123350ALPLc.746G>T (p.Gly249Val)
c.515G>T (p.Gly172Val)
c.581G>T (p.Gly194Val)
c.590G>T (p.Gly197Val)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21568202C>ACA416530157ALPLc.747C>A (p.Gly249=)
c.516C>A (p.Gly172=)
c.582C>A (p.Gly194=)
c.591C>A (p.Gly197=)
1g.21568202C>GCA416530155ALPLc.747C>G (p.Gly249=)
c.516C>G (p.Gly172=)
c.582C>G (p.Gly194=)
c.591C>G (p.Gly197=)
1g.21568202C>TCA416530153ALPLc.747C>T (p.Gly249=)
c.516C>T (p.Gly172=)
c.582C>T (p.Gly194=)
c.591C>T (p.Gly197=)
ClinVar dbSNP
1g.21568203delCA2643930960ALPLc.748del (p.Leu250TrpfsTer27)
c.517del (p.Leu173TrpfsTer27)
c.583del (p.Leu195TrpfsTer27)
c.592del (p.Leu198TrpfsTer27)
gnomAD v4
1g.21568203C>ACA338879344ALPLc.748C>A (p.Leu250Met)
c.517C>A (p.Leu173Met)
c.583C>A (p.Leu195Met)
c.592C>A (p.Leu198Met)
1g.21568203C>GCA338879345ALPLc.748C>G (p.Leu250Val)
c.517C>G (p.Leu173Val)
c.583C>G (p.Leu195Val)
c.592C>G (p.Leu198Val)
1g.21568203C>TCA416530159ALPLc.748C>T (p.Leu250=)
c.517C>T (p.Leu173=)
c.583C>T (p.Leu195=)
c.592C>T (p.Leu198=)
ClinVar dbSNP
1g.21568204T>ACA338879349ALPLc.749T>A (p.Leu250Gln)
c.518T>A (p.Leu173Gln)
c.584T>A (p.Leu195Gln)
c.593T>A (p.Leu198Gln)
1g.21568204T>CCA338879351ALPLc.749T>C (p.Leu250Pro)
c.518T>C (p.Leu173Pro)
c.584T>C (p.Leu195Pro)
c.593T>C (p.Leu198Pro)
1g.21568204T>GCA338879348ALPLc.749T>G (p.Leu250Arg)
c.518T>G (p.Leu173Arg)
c.584T>G (p.Leu195Arg)
c.593T>G (p.Leu198Arg)
1g.21568205G>ACA416530167ALPLc.750G>A (p.Leu250=)
c.519G>A (p.Leu173=)
c.585G>A (p.Leu195=)
c.594G>A (p.Leu198=)
1g.21568205G>CCA416530164ALPLc.750G>C (p.Leu250=)
c.519G>C (p.Leu173=)
c.585G>C (p.Leu195=)
c.594G>C (p.Leu198=)
1g.21568205G>TCA416530166ALPLc.750G>T (p.Leu250=)
c.519G>T (p.Leu173=)
c.585G>T (p.Leu195=)
c.594G>T (p.Leu198=)
ClinVar dbSNP
1g.21568205_21568206delCA2580061445ALPLc.750_751del (p.Asp251ProfsTer3)
c.519_520del (p.Asp174ProfsTer3)
c.585_586del (p.Asp196ProfsTer3)
c.594_595del (p.Asp199ProfsTer3)
ClinVar
1g.21568206G>ACA19063464ALPLc.751G>A (p.Asp251Asn)
c.520G>A (p.Asp174Asn)
c.586G>A (p.Asp196Asn)
c.595G>A (p.Asp199Asn)
dbSNP
1g.21568206G>CCA338879353ALPLc.751G>C (p.Asp251His)
c.520G>C (p.Asp174His)
c.586G>C (p.Asp196His)
c.595G>C (p.Asp199His)
1g.21568206G=CA1158016161ALPLc.751G= (p.Asp251=)
c.520G= (p.Asp174=)
c.586G= (p.Asp196=)
c.595G= (p.Asp199=)
1g.21568206G>TCA338879355ALPLc.751G>T (p.Asp251Tyr)
c.520G>T (p.Asp174Tyr)
c.586G>T (p.Asp196Tyr)
c.595G>T (p.Asp199Tyr)
1g.21568207A>CCA338879356ALPLc.752A>C (p.Asp251Ala)
c.521A>C (p.Asp174Ala)
c.587A>C (p.Asp196Ala)
c.596A>C (p.Asp199Ala)
1g.21568207A>GCA338879358ALPLc.752A>G (p.Asp251Gly)
c.521A>G (p.Asp174Gly)
c.587A>G (p.Asp196Gly)
c.596A>G (p.Asp199Gly)
1g.21568207A>TCA338879360ALPLc.752A>T (p.Asp251Val)
c.521A>T (p.Asp174Val)
c.587A>T (p.Asp196Val)
c.596A>T (p.Asp199Val)
1g.21568208C>ACA338879362ALPLc.753C>A (p.Asp251Glu)
c.522C>A (p.Asp174Glu)
c.588C>A (p.Asp196Glu)
c.597C>A (p.Asp199Glu)
1g.21568208C>GCA338879363ALPLc.753C>G (p.Asp251Glu)
c.522C>G (p.Asp174Glu)
c.588C>G (p.Asp196Glu)
c.597C>G (p.Asp199Glu)
1g.21568208C>TCA416530174ALPLc.753C>T (p.Asp251=)
c.522C>T (p.Asp174=)
c.588C>T (p.Asp196=)
c.597C>T (p.Asp199=)
1g.21568209C>ACA338879365ALPLc.754C>A (p.Leu252Ile)
c.523C>A (p.Leu175Ile)
c.589C>A (p.Leu197Ile)
c.598C>A (p.Leu200Ile)
1g.21568209C=CA1158016162ALPLc.754C= (p.Leu252=)
c.523C= (p.Leu175=)
c.589C= (p.Leu197=)
c.598C= (p.Leu200=)
1g.21568209C>GCA338879367ALPLc.754C>G (p.Leu252Val)
c.523C>G (p.Leu175Val)
c.589C>G (p.Leu197Val)
c.598C>G (p.Leu200Val)
1g.21568209C>TCA19063468ALPLc.754C>T (p.Leu252Phe)
c.523C>T (p.Leu175Phe)
c.589C>T (p.Leu197Phe)
c.598C>T (p.Leu200Phe)
dbSNP
1g.21568210T>ACA338879369ALPLc.755T>A (p.Leu252His)
c.524T>A (p.Leu175His)
c.590T>A (p.Leu197His)
c.599T>A (p.Leu200His)
1g.21568210T>CCA338879370ALPLc.755T>C (p.Leu252Pro)
c.524T>C (p.Leu175Pro)
c.590T>C (p.Leu197Pro)
c.599T>C (p.Leu200Pro)
1g.21568210T>GCA338879371ALPLc.755T>G (p.Leu252Arg)
c.524T>G (p.Leu175Arg)
c.590T>G (p.Leu197Arg)
c.599T>G (p.Leu200Arg)
1g.21568211C>ACA416530184ALPLc.756C>A (p.Leu252=)
c.525C>A (p.Leu175=)
c.591C>A (p.Leu197=)
c.600C>A (p.Leu200=)
1g.21568211C=CA1158016163ALPLc.756C= (p.Leu252=)
c.525C= (p.Leu175=)
c.591C= (p.Leu197=)
c.600C= (p.Leu200=)
1g.21568211C>GCA416530183ALPLc.756C>G (p.Leu252=)
c.525C>G (p.Leu175=)
c.591C>G (p.Leu197=)
c.600C>G (p.Leu200=)
1g.21568211C>TCA19063470ALPLc.756C>T (p.Leu252=)
c.525C>T (p.Leu175=)
c.591C>T (p.Leu197=)
c.600C>T (p.Leu200=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21568211_21568212insCCCA2739272372ALPLc.756_757insCC (p.Val253ProfsTer25)
c.525_526insCC (p.Val176ProfsTer25)
c.591_592insCC (p.Val198ProfsTer25)
c.600_601insCC (p.Val201ProfsTer25)
ClinVar
1g.21568212G>ACA666595ALPLc.757G>A (p.Val253Ile)
c.526G>A (p.Val176Ile)
c.592G>A (p.Val198Ile)
c.601G>A (p.Val201Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21568212G>CCA666596ALPLc.757G>C (p.Val253Leu)
c.526G>C (p.Val176Leu)
c.592G>C (p.Val198Leu)
c.601G>C (p.Val201Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.21568212G=CA1142415577ALPLc.757G= (p.Val253=)
c.526G= (p.Val176=)
c.592G= (p.Val198=)
c.601G= (p.Val201=)
1g.21568212G>TCA338879375ALPLc.757G>T (p.Val253Phe)
c.526G>T (p.Val176Phe)
c.592G>T (p.Val198Phe)
c.601G>T (p.Val201Phe)
1g.21568213T>ACA666597ALPLc.758T>A (p.Val253Asp)
c.527T>A (p.Val176Asp)
c.593T>A (p.Val198Asp)
c.602T>A (p.Val201Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.21568213T>CCA338879377ALPLc.758T>C (p.Val253Ala)
c.527T>C (p.Val176Ala)
c.593T>C (p.Val198Ala)
c.602T>C (p.Val201Ala)
gnomAD v4 COSMIC
1g.21568213T>GCA338879378ALPLc.758T>G (p.Val253Gly)
c.527T>G (p.Val176Gly)
c.593T>G (p.Val198Gly)
c.602T>G (p.Val201Gly)
1g.21568213T=CA1158016164ALPLc.758T= (p.Val253=)
c.527T= (p.Val176=)
c.593T= (p.Val198=)
c.602T= (p.Val201=)
1g.21568214T>ACA416530192ALPLc.759T>A (p.Val253=)
c.528T>A (p.Val176=)
c.594T>A (p.Val198=)
c.603T>A (p.Val201=)
1g.21568214T>CCA416530194ALPLc.759T>C (p.Val253=)
c.528T>C (p.Val176=)
c.594T>C (p.Val198=)
c.603T>C (p.Val201=)
dbSNP gnomAD v2 gnomAD v4
1g.21568214T>GCA416530190ALPLc.759T>G (p.Val253=)
c.528T>G (p.Val176=)
c.594T>G (p.Val198=)
c.603T>G (p.Val201=)
1g.21568214T=CA1158016165ALPLc.759T= (p.Val253=)
c.528T= (p.Val176=)
c.594T= (p.Val198=)
c.603T= (p.Val201=)
1g.21568215G>ACA338879380ALPLc.760G>A (p.Asp254Asn)
c.529G>A (p.Asp177Asn)
c.595G>A (p.Asp199Asn)
c.604G>A (p.Asp202Asn)
1g.21568215G>CCA338879382ALPLc.760G>C (p.Asp254His)
c.529G>C (p.Asp177His)
c.595G>C (p.Asp199His)
c.604G>C (p.Asp202His)
gnomAD v4
1g.21568215G>TCA338879384ALPLc.760G>T (p.Asp254Tyr)
c.529G>T (p.Asp177Tyr)
c.595G>T (p.Asp199Tyr)
c.604G>T (p.Asp202Tyr)
1g.21568216A>CCA338879385ALPLc.761A>C (p.Asp254Ala)
c.530A>C (p.Asp177Ala)
c.596A>C (p.Asp199Ala)
c.605A>C (p.Asp202Ala)
1g.21568216A>GCA338879386ALPLc.761A>G (p.Asp254Gly)
c.530A>G (p.Asp177Gly)
c.596A>G (p.Asp199Gly)
c.605A>G (p.Asp202Gly)
1g.21568216A>TCA338879387ALPLc.761A>T (p.Asp254Val)
c.530A>T (p.Asp177Val)
c.596A>T (p.Asp199Val)
c.605A>T (p.Asp202Val)
1g.21568217C>ACA338879390ALPLc.762C>A (p.Asp254Glu)
c.531C>A (p.Asp177Glu)
c.597C>A (p.Asp199Glu)
c.606C>A (p.Asp202Glu)
1g.21568217C=CA1158016166ALPLc.762C= (p.Asp254=)
c.531C= (p.Asp177=)
c.597C= (p.Asp199=)
c.606C= (p.Asp202=)
1g.21568217C>GCA338879392ALPLc.762C>G (p.Asp254Glu)
c.531C>G (p.Asp177Glu)
c.597C>G (p.Asp199Glu)
c.606C>G (p.Asp202Glu)
1g.21568217C>TCA416530201ALPLc.762C>T (p.Asp254=)
c.531C>T (p.Asp177=)
c.597C>T (p.Asp199=)
c.606C>T (p.Asp202=)
dbSNP gnomAD v3 gnomAD v4
1g.21568218A>CCA338879395ALPLc.763A>C (p.Thr255Pro)
c.532A>C (p.Thr178Pro)
c.598A>C (p.Thr200Pro)
c.607A>C (p.Thr203Pro)
1g.21568218A>GCA338879396ALPLc.763A>G (p.Thr255Ala)
c.532A>G (p.Thr178Ala)
c.598A>G (p.Thr200Ala)
c.607A>G (p.Thr203Ala)
1g.21568218A>TCA338879393ALPLc.763A>T (p.Thr255Ser)
c.532A>T (p.Thr178Ser)
c.598A>T (p.Thr200Ser)
c.607A>T (p.Thr203Ser)
1g.21568219C>ACA338879400ALPLc.764C>A (p.Thr255Asn)
c.533C>A (p.Thr178Asn)
c.599C>A (p.Thr200Asn)
c.608C>A (p.Thr203Asn)
gnomAD v4
1g.21568219C>GCA338879397ALPLc.764C>G (p.Thr255Ser)
c.533C>G (p.Thr178Ser)
c.599C>G (p.Thr200Ser)
c.608C>G (p.Thr203Ser)
1g.21568219C>TCA338879401ALPLc.764C>T (p.Thr255Ile)
c.533C>T (p.Thr178Ile)
c.599C>T (p.Thr200Ile)
c.608C>T (p.Thr203Ile)
gnomAD v4
1g.21568220C>ACA416530213ALPLc.765C>A (p.Thr255=)
c.534C>A (p.Thr178=)
c.600C>A (p.Thr200=)
c.609C>A (p.Thr203=)
1g.21568220C>GCA416530217ALPLc.765C>G (p.Thr255=)
c.534C>G (p.Thr178=)
c.600C>G (p.Thr200=)
c.609C>G (p.Thr203=)
1g.21568220C>TCA416530215ALPLc.765C>T (p.Thr255=)
c.534C>T (p.Thr178=)
c.600C>T (p.Thr200=)
c.609C>T (p.Thr203=)
ClinVar dbSNP gnomAD v4
1g.21568221T>ACA338879403ALPLc.766T>A (p.Trp256Arg)
c.535T>A (p.Trp179Arg)
c.601T>A (p.Trp201Arg)
c.610T>A (p.Trp204Arg)
1g.21568221T>CCA338879407ALPLc.766T>C (p.Trp256Arg)
c.535T>C (p.Trp179Arg)
c.601T>C (p.Trp201Arg)
c.610T>C (p.Trp204Arg)
1g.21568221T>GCA338879405ALPLc.766T>G (p.Trp256Gly)
c.535T>G (p.Trp179Gly)
c.601T>G (p.Trp201Gly)
c.610T>G (p.Trp204Gly)
1g.21568222G>ACA338879408ALPLc.767G>A (p.Trp256Ter)
c.536G>A (p.Trp179Ter)
c.602G>A (p.Trp201Ter)
c.611G>A (p.Trp204Ter)
1g.21568222G>CCA338879410ALPLc.767G>C (p.Trp256Ser)
c.536G>C (p.Trp179Ser)
c.602G>C (p.Trp201Ser)
c.611G>C (p.Trp204Ser)
1g.21568222G>TCA338879412ALPLc.767G>T (p.Trp256Leu)
c.536G>T (p.Trp179Leu)
c.602G>T (p.Trp201Leu)
c.611G>T (p.Trp204Leu)
1g.21568223G>ACA666598ALPLc.768G>A (p.Trp256Ter)
c.537G>A (p.Trp179Ter)
c.603G>A (p.Trp201Ter)
c.612G>A (p.Trp204Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.21568223G>CCA338879414ALPLc.768G>C (p.Trp256Cys)
c.537G>C (p.Trp179Cys)
c.603G>C (p.Trp201Cys)
c.612G>C (p.Trp204Cys)
1g.21568223G=CA1158016167ALPLc.768G= (p.Trp256=)
c.537G= (p.Trp179=)
c.603G= (p.Trp201=)
c.612G= (p.Trp204=)
1g.21568223G>TCA338879416ALPLc.768G>T (p.Trp256Cys)
c.537G>T (p.Trp179Cys)
c.603G>T (p.Trp201Cys)
c.612G>T (p.Trp204Cys)
1g.21568224A>CCA338879417ALPLc.769A>C (p.Lys257Gln)
c.538A>C (p.Lys180Gln)
c.604A>C (p.Lys202Gln)
c.613A>C (p.Lys205Gln)
1g.21568224A>GCA338879418ALPLc.769A>G (p.Lys257Glu)
c.538A>G (p.Lys180Glu)
c.604A>G (p.Lys202Glu)
c.613A>G (p.Lys205Glu)
1g.21568224A>TCA338879419ALPLc.769A>T (p.Lys257Ter)
c.538A>T (p.Lys180Ter)
c.604A>T (p.Lys202Ter)
c.613A>T (p.Lys205Ter)
1g.21568225A>CCA338879421ALPLc.770A>C (p.Lys257Thr)
c.539A>C (p.Lys180Thr)
c.605A>C (p.Lys202Thr)
c.614A>C (p.Lys205Thr)
1g.21568225A>GCA338879423ALPLc.770A>G (p.Lys257Arg)
c.539A>G (p.Lys180Arg)
c.605A>G (p.Lys202Arg)
c.614A>G (p.Lys205Arg)
1g.21568225A>TCA338879425ALPLc.770A>T (p.Lys257Met)
c.539A>T (p.Lys180Met)
c.605A>T (p.Lys202Met)
c.614A>T (p.Lys205Met)
1g.21568226G>ACA416530236ALPLc.771G>A (p.Lys257=)
c.540G>A (p.Lys180=)
c.606G>A (p.Lys202=)
c.615G>A (p.Lys205=)
ClinVar dbSNP gnomAD v3 gnomAD v4
1g.21568226G>CCA338879428ALPLc.771G>C (p.Lys257Asn)
c.540G>C (p.Lys180Asn)
c.606G>C (p.Lys202Asn)
c.615G>C (p.Lys205Asn)
1g.21568226G=CA1158016168ALPLc.771G= (p.Lys257=)
c.540G= (p.Lys180=)
c.606G= (p.Lys202=)
c.615G= (p.Lys205=)
1g.21568226G>TCA338879426ALPLc.771G>T (p.Lys257Asn)
c.540G>T (p.Lys180Asn)
c.606G>T (p.Lys202Asn)
c.615G>T (p.Lys205Asn)
1g.21568227A>CCA338879430ALPLc.772A>C (p.Ser258Arg)
c.541A>C (p.Ser181Arg)
c.607A>C (p.Ser203Arg)
c.616A>C (p.Ser206Arg)
1g.21568227A>GCA338879431ALPLc.772A>G (p.Ser258Gly)
c.541A>G (p.Ser181Gly)
c.607A>G (p.Ser203Gly)
c.616A>G (p.Ser206Gly)
gnomAD v4
1g.21568227A>TCA338879433ALPLc.772A>T (p.Ser258Cys)
c.541A>T (p.Ser181Cys)
c.607A>T (p.Ser203Cys)
c.616A>T (p.Ser206Cys)
1g.21568228G>ACA666599ALPLc.773G>A (p.Ser258Asn)
c.542G>A (p.Ser181Asn)
c.608G>A (p.Ser203Asn)
c.617G>A (p.Ser206Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21568228G>CCA338879436ALPLc.773G>C (p.Ser258Thr)
c.542G>C (p.Ser181Thr)
c.608G>C (p.Ser203Thr)
c.617G>C (p.Ser206Thr)
1g.21568228G=CA1158016169ALPLc.773G= (p.Ser258=)
c.542G= (p.Ser181=)
c.608G= (p.Ser203=)
c.617G= (p.Ser206=)
1g.21568228G>TCA338879437ALPLc.773G>T (p.Ser258Ile)
c.542G>T (p.Ser181Ile)
c.608G>T (p.Ser203Ile)
c.617G>T (p.Ser206Ile)
1g.21568229C>ACA338879439ALPLc.774C>A (p.Ser258Arg)
c.543C>A (p.Ser181Arg)
c.609C>A (p.Ser203Arg)
c.618C>A (p.Ser206Arg)
1g.21568229C=CA1158016170ALPLc.774C= (p.Ser258=)
c.543C= (p.Ser181=)
c.609C= (p.Ser203=)
c.618C= (p.Ser206=)
1g.21568229C>GCA338879441ALPLc.774C>G (p.Ser258Arg)
c.543C>G (p.Ser181Arg)
c.609C>G (p.Ser203Arg)
c.618C>G (p.Ser206Arg)
1g.21568229C>TCA666600ALPLc.774C>T (p.Ser258=)
c.543C>T (p.Ser181=)
c.609C>T (p.Ser203=)
c.618C>T (p.Ser206=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21568230T>ACA338879443ALPLc.775T>A (p.Phe259Ile)
c.544T>A (p.Phe182Ile)
c.610T>A (p.Phe204Ile)
c.619T>A (p.Phe207Ile)
1g.21568230T>CCA338879445ALPLc.775T>C (p.Phe259Leu)
c.544T>C (p.Phe182Leu)
c.610T>C (p.Phe204Leu)
c.619T>C (p.Phe207Leu)
dbSNP gnomAD v4
1g.21568230T>GCA338879447ALPLc.775T>G (p.Phe259Val)
c.544T>G (p.Phe182Val)
c.610T>G (p.Phe204Val)
c.619T>G (p.Phe207Val)
1g.21568230T=CA1158016171ALPLc.775T= (p.Phe259=)
c.544T= (p.Phe182=)
c.610T= (p.Phe204=)
c.619T= (p.Phe207=)
1g.21568231T>ACA338879452ALPLc.776T>A (p.Phe259Tyr)
c.545T>A (p.Phe182Tyr)
c.611T>A (p.Phe204Tyr)
c.620T>A (p.Phe207Tyr)
1g.21568231T>CCA338879451ALPLc.776T>C (p.Phe259Ser)
c.545T>C (p.Phe182Ser)
c.611T>C (p.Phe204Ser)
c.620T>C (p.Phe207Ser)
1g.21568231T>GCA338879449ALPLc.776T>G (p.Phe259Cys)
c.545T>G (p.Phe182Cys)
c.611T>G (p.Phe204Cys)
c.620T>G (p.Phe207Cys)
1g.21568232C>ACA338879454ALPLc.777C>A (p.Phe259Leu)
c.546C>A (p.Phe182Leu)
c.612C>A (p.Phe204Leu)
c.621C>A (p.Phe207Leu)
1g.21568232C=CA1158016172ALPLc.777C= (p.Phe259=)
c.546C= (p.Phe182=)
c.612C= (p.Phe204=)
c.621C= (p.Phe207=)
1g.21568232C>GCA338879455ALPLc.777C>G (p.Phe259Leu)
c.546C>G (p.Phe182Leu)
c.612C>G (p.Phe204Leu)
c.621C>G (p.Phe207Leu)
1g.21568232C>TCA416530258ALPLc.777C>T (p.Phe259=)
c.546C>T (p.Phe182=)
c.612C>T (p.Phe204=)
c.621C>T (p.Phe207=)
ClinVar dbSNP
1g.21568233A>CCA338879457ALPLc.778A>C (p.Lys260Gln)
c.547A>C (p.Lys183Gln)
c.613A>C (p.Lys205Gln)
c.622A>C (p.Lys208Gln)
1g.21568233A>GCA338879459ALPLc.778A>G (p.Lys260Glu)
c.547A>G (p.Lys183Glu)
c.613A>G (p.Lys205Glu)
c.622A>G (p.Lys208Glu)
1g.21568233A>TCA338879461ALPLc.778A>T (p.Lys260Ter)
c.547A>T (p.Lys183Ter)
c.613A>T (p.Lys205Ter)
c.622A>T (p.Lys208Ter)
1g.21568234A>CCA338879462ALPLc.779A>C (p.Lys260Thr)
c.548A>C (p.Lys183Thr)
c.614A>C (p.Lys205Thr)
c.623A>C (p.Lys208Thr)
1g.21568234A>GCA338879463ALPLc.779A>G (p.Lys260Arg)
c.548A>G (p.Lys183Arg)
c.614A>G (p.Lys205Arg)
c.623A>G (p.Lys208Arg)
1g.21568234A>TCA338879465ALPLc.779A>T (p.Lys260Ile)
c.548A>T (p.Lys183Ile)
c.614A>T (p.Lys205Ile)
c.623A>T (p.Lys208Ile)
1g.21568235A>CCA338879467ALPLc.780A>C (p.Lys260Asn)
c.549A>C (p.Lys183Asn)
c.615A>C (p.Lys205Asn)
c.624A>C (p.Lys208Asn)
1g.21568235A>GCA416530267ALPLc.780A>G (p.Lys260=)
c.549A>G (p.Lys183=)
c.615A>G (p.Lys205=)
c.624A>G (p.Lys208=)
1g.21568235A>TCA338879469ALPLc.780A>T (p.Lys260Asn)
c.549A>T (p.Lys183Asn)
c.615A>T (p.Lys205Asn)
c.624A>T (p.Lys208Asn)
1g.21568236C>ACA666601ALPLc.781C>A (p.Pro261Thr)
c.550C>A (p.Pro184Thr)
c.616C>A (p.Pro206Thr)
c.625C>A (p.Pro209Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.21568236C=CA1158016173ALPLc.781C= (p.Pro261=)
c.550C= (p.Pro184=)
c.616C= (p.Pro206=)
c.625C= (p.Pro209=)
1g.21568236C>GCA338879471ALPLc.781C>G (p.Pro261Ala)
c.550C>G (p.Pro184Ala)
c.616C>G (p.Pro206Ala)
c.625C>G (p.Pro209Ala)
1g.21568236C>TCA338879473ALPLc.781C>T (p.Pro261Ser)
c.550C>T (p.Pro184Ser)
c.616C>T (p.Pro206Ser)
c.625C>T (p.Pro209Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21568237C>ACA666602ALPLc.782C>A (p.Pro261Gln)
c.551C>A (p.Pro184Gln)
c.617C>A (p.Pro206Gln)
c.626C>A (p.Pro209Gln)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.21568237C=CA1158016174ALPLc.782C= (p.Pro261=)
c.551C= (p.Pro184=)
c.617C= (p.Pro206=)
c.626C= (p.Pro209=)
1g.21568237C>GCA338879475ALPLc.782C>G (p.Pro261Arg)
c.551C>G (p.Pro184Arg)
c.617C>G (p.Pro206Arg)
c.626C>G (p.Pro209Arg)
1g.21568237C>TCA666603ALPLc.782C>T (p.Pro261Leu)
c.551C>T (p.Pro184Leu)
c.617C>T (p.Pro206Leu)
c.626C>T (p.Pro209Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21568238G>ACA666604ALPLc.783G>A (p.Pro261=)
c.552G>A (p.Pro184=)
c.618G>A (p.Pro206=)
c.627G>A (p.Pro209=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21568238G>CCA416530278ALPLc.783G>C (p.Pro261=)
c.552G>C (p.Pro184=)
c.618G>C (p.Pro206=)
c.627G>C (p.Pro209=)
1g.21568238G=CA1145014200ALPLc.783G= (p.Pro261=)
c.552G= (p.Pro184=)
c.618G= (p.Pro206=)
c.627G= (p.Pro209=)
1g.21568238G>TCA416530275ALPLc.783G>T (p.Pro261=)
c.552G>T (p.Pro184=)
c.618G>T (p.Pro206=)
c.627G>T (p.Pro209=)
gnomAD v4
1g.21568239A>CCA416530282ALPLc.784A>C (p.Arg262=)
c.553A>C (p.Arg185=)
c.619A>C (p.Arg207=)
c.628A>C (p.Arg210=)
1g.21568239A>GCA338879479ALPLc.784A>G (p.Arg262Gly)
c.553A>G (p.Arg185Gly)
c.619A>G (p.Arg207Gly)
c.628A>G (p.Arg210Gly)
1g.21568239A>TCA338879480ALPLc.784A>T (p.Arg262Ter)
c.553A>T (p.Arg185Ter)
c.619A>T (p.Arg207Ter)
c.628A>T (p.Arg210Ter)
ClinVar
1g.21568240G>ACA338879483ALPLc.785G>A (p.Arg262Lys)
c.554G>A (p.Arg185Lys)
c.620G>A (p.Arg207Lys)
c.629G>A (p.Arg210Lys)
gnomAD v4
1g.21568240G>CCA338879484ALPLc.785G>C (p.Arg262Thr)
c.554G>C (p.Arg185Thr)
c.620G>C (p.Arg207Thr)
c.629G>C (p.Arg210Thr)
1g.21568240G>TCA338879485ALPLc.785G>T (p.Arg262Ile)
c.554G>T (p.Arg185Ile)
c.620G>T (p.Arg207Ile)
c.629G>T (p.Arg210Ile)
1g.21568241A>CCA338879487ALPLc.786A>C (p.Arg262Ser)
c.555A>C (p.Arg185Ser)
c.621A>C (p.Arg207Ser)
c.630A>C (p.Arg210Ser)
1g.21568241A>GCA416530289ALPLc.786A>G (p.Arg262=)
c.555A>G (p.Arg185=)
c.621A>G (p.Arg207=)
c.630A>G (p.Arg210=)
gnomAD v4
1g.21568241A>TCA338879489ALPLc.786A>T (p.Arg262Ser)
c.555A>T (p.Arg185Ser)
c.621A>T (p.Arg207Ser)
c.630A>T (p.Arg210Ser)
1g.21568242T>ACA338879491ALPLc.787T>A (p.Tyr263Asn)
c.556T>A (p.Tyr186Asn)
c.622T>A (p.Tyr208Asn)
c.631T>A (p.Tyr211Asn)
dbSNP gnomAD v2 gnomAD v4
1g.21568242T>CCA203411ALPLc.787T>C (p.Tyr263His)
c.556T>C (p.Tyr186His)
c.622T>C (p.Tyr208His)
c.631T>C (p.Tyr211His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21568242T>GCA338879492ALPLc.787T>G (p.Tyr263Asp)
c.556T>G (p.Tyr186Asp)
c.622T>G (p.Tyr208Asp)
c.631T>G (p.Tyr211Asp)
dbSNP
1g.21568242T=CA1139989380ALPLc.787T= (p.Tyr263=)
c.556T= (p.Tyr186=)
c.622T= (p.Tyr208=)
c.631T= (p.Tyr211=)
1g.21568243A=CA1158016175ALPLc.788A= (p.Tyr263=)
c.557A= (p.Tyr186=)
c.623A= (p.Tyr208=)
c.632A= (p.Tyr211=)
1g.21568243A>CCA338879497ALPLc.788A>C (p.Tyr263Ser)
c.557A>C (p.Tyr186Ser)
c.623A>C (p.Tyr208Ser)
c.632A>C (p.Tyr211Ser)
1g.21568243A>GCA338879496ALPLc.788A>G (p.Tyr263Cys)
c.557A>G (p.Tyr186Cys)
c.623A>G (p.Tyr208Cys)
c.632A>G (p.Tyr211Cys)
dbSNP gnomAD v3 gnomAD v4 COSMIC
1g.21568243A>TCA338879494ALPLc.788A>T (p.Tyr263Phe)
c.557A>T (p.Tyr186Phe)
c.623A>T (p.Tyr208Phe)
c.632A>T (p.Tyr211Phe)
1g.21568244C>ACA338879498ALPLc.789C>A (p.Tyr263Ter)
c.558C>A (p.Tyr186Ter)
c.624C>A (p.Tyr208Ter)
c.633C>A (p.Tyr211Ter)
1g.21568244C>GCA338879499ALPLc.789C>G (p.Tyr263Ter)
c.558C>G (p.Tyr186Ter)
c.624C>G (p.Tyr208Ter)
c.633C>G (p.Tyr211Ter)
1g.21568244C>TCA416530300ALPLc.789C>T (p.Tyr263=)
c.558C>T (p.Tyr186=)
c.624C>T (p.Tyr208=)
c.633C>T (p.Tyr211=)
ClinVar
1g.21568245A=CA1158016176ALPLc.790A= (p.Lys264=)
c.559A= (p.Lys187=)
c.625A= (p.Lys209=)
c.634A= (p.Lys212=)
1g.21568245A>CCA338879501ALPLc.790A>C (p.Lys264Gln)
c.559A>C (p.Lys187Gln)
c.625A>C (p.Lys209Gln)
c.634A>C (p.Lys212Gln)
1g.21568245A>GCA19063513ALPLc.790A>G (p.Lys264Glu)
c.559A>G (p.Lys187Glu)
c.625A>G (p.Lys209Glu)
c.634A>G (p.Lys212Glu)
dbSNP
1g.21568245A>TCA338879503ALPLc.790A>T (p.Lys264Ter)
c.559A>T (p.Lys187Ter)
c.625A>T (p.Lys209Ter)
c.634A>T (p.Lys212Ter)
1g.21568246A=CA1158016177ALPLc.791A= (p.Lys264=)
c.560A= (p.Lys187=)
c.626A= (p.Lys209=)
c.635A= (p.Lys212=)
1g.21568246A>CCA338879505ALPLc.791A>C (p.Lys264Thr)
c.560A>C (p.Lys187Thr)
c.626A>C (p.Lys209Thr)
c.635A>C (p.Lys212Thr)
1g.21568246A>GCA273908ALPLc.791A>G (p.Lys264Arg)
c.560A>G (p.Lys187Arg)
c.626A>G (p.Lys209Arg)
c.635A>G (p.Lys212Arg)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21568246A>TCA338879507ALPLc.791A>T (p.Lys264Met)
c.560A>T (p.Lys187Met)
c.626A>T (p.Lys209Met)
c.635A>T (p.Lys212Met)
1g.21568247G>ACA416530308ALPLc.792G>A (p.Lys264=)
c.561G>A (p.Lys187=)
c.627G>A (p.Lys209=)
c.636G>A (p.Lys212=)
gnomAD v4
1g.21568247G>CCA338879509ALPLc.792G>C (p.Lys264Asn)
c.561G>C (p.Lys187Asn)
c.627G>C (p.Lys209Asn)
c.636G>C (p.Lys212Asn)
1g.21568247G>TCA338879511ALPLc.792G>T (p.Lys264Asn)
c.561G>T (p.Lys187Asn)
c.627G>T (p.Lys209Asn)
c.636G>T (p.Lys212Asn)
ClinVar
1g.21568248G>ACA338879513ALPLc.792+1G>A (n.792+1G>A)
c.561+1G>A (n.561+1G>A)
c.627+1G>A (n.627+1G>A)
c.636+1G>A (n.636+1G>A)
ClinVar COSMIC
1g.21568248G>CCA338879515ALPLc.792+1G>C (n.792+1G>C)
c.561+1G>C (n.561+1G>C)
c.627+1G>C (n.627+1G>C)
c.636+1G>C (n.636+1G>C)
ClinVar
1g.21568248G>TCA338879517ALPLc.792+1G>T (n.792+1G>T)
c.561+1G>T (n.561+1G>T)
c.627+1G>T (n.627+1G>T)
c.636+1G>T (n.636+1G>T)
1g.21568249T>ACA338879519ALPLc.792+2T>A (n.792+2T>A)
c.561+2T>A (n.561+2T>A)
c.627+2T>A (n.627+2T>A)
c.636+2T>A (n.636+2T>A)
1g.21568249T>CCA338879520ALPLc.792+2T>C (n.792+2T>C)
c.561+2T>C (n.561+2T>C)
c.627+2T>C (n.627+2T>C)
c.636+2T>C (n.636+2T>C)
1g.21568249T>GCA338879522ALPLc.792+2T>G (n.792+2T>G)
c.561+2T>G (n.561+2T>G)
c.627+2T>G (n.627+2T>G)
c.636+2T>G (n.636+2T>G)
1g.21568250A>GCA2643930963ALPLc.792+3A>G (n.792+3A>G)
c.561+3A>G (n.561+3A>G)
c.627+3A>G (n.627+3A>G)
c.636+3A>G (n.636+3A>G)
gnomAD v4
1g.21568251G=CA1158016178ALPLc.792+4G= (n.792+4G=)
c.561+4G= (n.561+4G=)
c.627+4G= (n.627+4G=)
c.636+4G= (n.636+4G=)
1g.21568251G>TCA1158016179ALPLc.792+4G>T (n.792+4G>T)
c.561+4G>T (n.561+4G>T)
c.627+4G>T (n.627+4G>T)
c.636+4G>T (n.636+4G>T)
ClinVar dbSNP gnomAD v4
1g.21568252C>TCA2643930964ALPLc.792+5C>T (n.792+5C>T)
c.561+5C>T (n.561+5C>T)
c.627+5C>T (n.627+5C>T)
c.636+5C>T (n.636+5C>T)
gnomAD v4
1g.21568254delCA2742753758ALPLc.792+7del (n.792+7del)
c.561+7del (n.561+7del)
c.627+7del (n.627+7del)
c.636+7del (n.636+7del)
1g.21568254T>CCA2643930965ALPLc.792+7T>C (n.792+7T>C)
c.561+7T>C (n.561+7T>C)
c.627+7T>C (n.627+7T>C)
c.636+7T>C (n.636+7T>C)
ClinVar gnomAD v4
1g.21568255G>ACA19063522ALPLc.792+8G>A (n.792+8G>A)
c.561+8G>A (n.561+8G>A)
c.627+8G>A (n.627+8G>A)
c.636+8G>A (n.636+8G>A)
ClinVar dbSNP gnomAD v4
1g.21568255G>CCA2573130500ALPLc.792+8G>C (n.792+8G>C)
c.561+8G>C (n.561+8G>C)
c.627+8G>C (n.627+8G>C)
c.636+8G>C (n.636+8G>C)
ClinVar dbSNP
1g.21568255G=CA1158016180ALPLc.792+8G= (n.792+8G=)
c.561+8G= (n.561+8G=)
c.627+8G= (n.627+8G=)
c.636+8G= (n.636+8G=)
1g.21568256T>CCA2740114634ALPLc.792+9T>C (n.792+9T>C)
c.561+9T>C (n.561+9T>C)
c.627+9T>C (n.627+9T>C)
c.636+9T>C (n.636+9T>C)
1g.21568257delCA2499214453ALPLc.792+10del (n.792+10del)
c.561+10del (n.561+10del)
c.627+10del (n.627+10del)
c.636+10del (n.636+10del)
ClinVar dbSNP
1g.21568260G>ACA521577209ALPLc.792+13G>A (n.792+13G>A)
c.561+13G>A (n.561+13G>A)
c.627+13G>A (n.627+13G>A)
c.636+13G>A (n.636+13G>A)
dbSNP gnomAD v2
1g.21568260G>CCA666605ALPLc.792+13G>C (n.792+13G>C)
c.561+13G>C (n.561+13G>C)
c.627+13G>C (n.627+13G>C)
c.636+13G>C (n.636+13G>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.21568260G=CA1143966576ALPLc.792+13G= (n.792+13G=)
c.561+13G= (n.561+13G=)
c.627+13G= (n.627+13G=)
c.636+13G= (n.636+13G=)
1g.21568262G=CA1158016181ALPLc.792+15G= (n.792+15G=)
c.561+15G= (n.561+15G=)
c.627+15G= (n.627+15G=)
c.636+15G= (n.636+15G=)
1g.21568262G>TCA1158016182ALPLc.792+15G>T (n.792+15G>T)
c.561+15G>T (n.561+15G>T)
c.627+15G>T (n.627+15G>T)
c.636+15G>T (n.636+15G>T)
dbSNP
1g.21568263G=CA1158016183ALPLc.792+16G= (n.792+16G=)
c.561+16G= (n.561+16G=)
c.627+16G= (n.627+16G=)
c.636+16G= (n.636+16G=)
1g.21568263G>TCA666606ALPLc.792+16G>T (n.792+16G>T)
c.561+16G>T (n.561+16G>T)
c.627+16G>T (n.627+16G>T)
c.636+16G>T (n.636+16G>T)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.21568265C>ACA666607ALPLc.792+18C>A (n.792+18C>A)
c.561+18C>A (n.561+18C>A)
c.627+18C>A (n.627+18C>A)
c.636+18C>A (n.636+18C>A)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.21568265C=CA1158016184ALPLc.792+18C= (n.792+18C=)
c.561+18C= (n.561+18C=)
c.627+18C= (n.627+18C=)
c.636+18C= (n.636+18C=)
1g.21568265C>GCA521577210ALPLc.792+18C>G (n.792+18C>G)
c.561+18C>G (n.561+18C>G)
c.627+18C>G (n.627+18C>G)
c.636+18C>G (n.636+18C>G)
dbSNP gnomAD v2 gnomAD v4
1g.21568266A=CA1148886478ALPLc.792+19A= (n.792+19A=)
c.561+19A= (n.561+19A=)
c.627+19A= (n.627+19A=)
c.636+19A= (n.636+19A=)
1g.21568266A>CCA2742753762ALPLc.792+19A>C (n.792+19A>C)
c.561+19A>C (n.561+19A>C)
c.627+19A>C (n.627+19A>C)
c.636+19A>C (n.636+19A>C)
1g.21568266A>GCA666608ALPLc.792+19A>G (n.792+19A>G)
c.561+19A>G (n.561+19A>G)
c.627+19A>G (n.627+19A>G)
c.636+19A>G (n.636+19A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21568266A>TCA1158016185ALPLc.792+19A>T (n.792+19A>T)
c.561+19A>T (n.561+19A>T)
c.627+19A>T (n.627+19A>T)
c.636+19A>T (n.636+19A>T)
dbSNP gnomAD v4
1g.21568267T>CCA2573130501ALPLc.792+20T>C (n.792+20T>C)
c.561+20T>C (n.561+20T>C)
c.627+20T>C (n.627+20T>C)
c.636+20T>C (n.636+20T>C)
ClinVar dbSNP
1g.21568268G>ACA521577211ALPLc.792+21G>A (n.792+21G>A)
c.561+21G>A (n.561+21G>A)
c.627+21G>A (n.627+21G>A)
c.636+21G>A (n.636+21G>A)
dbSNP gnomAD v2 gnomAD v4
1g.21568268G=CA1158016186ALPLc.792+21G= (n.792+21G=)
c.561+21G= (n.561+21G=)
c.627+21G= (n.627+21G=)
c.636+21G= (n.636+21G=)
1g.21568269T>ACA999407163ALPLc.792+22T>A (n.792+22T>A)
c.561+22T>A (n.561+22T>A)
c.627+22T>A (n.627+22T>A)
c.636+22T>A (n.636+22T>A)
dbSNP gnomAD v3 gnomAD v4
1g.21568269T=CA1158016187ALPLc.792+22T= (n.792+22T=)
c.561+22T= (n.561+22T=)
c.627+22T= (n.627+22T=)
c.636+22T= (n.636+22T=)
1g.21568270G>ACA2643930966ALPLc.792+23G>A (n.792+23G>A)
c.561+23G>A (n.561+23G>A)
c.627+23G>A (n.627+23G>A)
c.636+23G>A (n.636+23G>A)
gnomAD v4
1g.21568271G>ACA1158016189ALPLc.792+24G>A (n.792+24G>A)
c.561+24G>A (n.561+24G>A)
c.627+24G>A (n.627+24G>A)
c.636+24G>A (n.636+24G>A)
dbSNP gnomAD v4
1g.21568271G=CA1158016188ALPLc.792+24G= (n.792+24G=)
c.561+24G= (n.561+24G=)
c.627+24G= (n.627+24G=)
c.636+24G= (n.636+24G=)
1g.21568272C=CA1158016190ALPLc.792+25C= (n.792+25C=)
c.561+25C= (n.561+25C=)
c.627+25C= (n.627+25C=)
c.636+25C= (n.636+25C=)
1g.21568272C>TCA666609ALPLc.792+25C>T (n.792+25C>T)
c.561+25C>T (n.561+25C>T)
c.627+25C>T (n.627+25C>T)
c.636+25C>T (n.636+25C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21568273T>CCA19063554ALPLc.792+26T>C (n.792+26T>C)
c.561+26T>C (n.561+26T>C)
c.627+26T>C (n.627+26T>C)
c.636+26T>C (n.636+26T>C)
dbSNP
1g.21568273T=CA1158016191ALPLc.792+26T= (n.792+26T=)
c.561+26T= (n.561+26T=)
c.627+26T= (n.627+26T=)
c.636+26T= (n.636+26T=)
1g.21568274G>ACA999407173ALPLc.792+27G>A (n.792+27G>A)
c.561+27G>A (n.561+27G>A)
c.627+27G>A (n.627+27G>A)
c.636+27G>A (n.636+27G>A)
dbSNP gnomAD v3 gnomAD v4
1g.21568274G>CCA999407175ALPLc.792+27G>C (n.792+27G>C)
c.561+27G>C (n.561+27G>C)
c.627+27G>C (n.627+27G>C)
c.636+27G>C (n.636+27G>C)
dbSNP gnomAD v3 gnomAD v4
1g.21568274G=CA1158016192ALPLc.792+27G= (n.792+27G=)
c.561+27G= (n.561+27G=)
c.627+27G= (n.627+27G=)
c.636+27G= (n.636+27G=)
1g.21568276A>GCA2643930967ALPLc.792+29A>G (n.792+29A>G)
c.561+29A>G (n.561+29A>G)
c.627+29A>G (n.627+29A>G)
c.636+29A>G (n.636+29A>G)
gnomAD v4
1g.21568277G>ACA521577212ALPLc.792+30G>A (n.792+30G>A)
c.561+30G>A (n.561+30G>A)
c.627+30G>A (n.627+30G>A)
c.636+30G>A (n.636+30G>A)
dbSNP gnomAD v2 gnomAD v4
1g.21568277G=CA1158016193ALPLc.792+30G= (n.792+30G=)
c.561+30G= (n.561+30G=)
c.627+30G= (n.627+30G=)
c.636+30G= (n.636+30G=)
1g.21568278A=CA1158016194ALPLc.792+31A= (n.792+31A=)
c.561+31A= (n.561+31A=)
c.627+31A= (n.627+31A=)
c.636+31A= (n.636+31A=)
1g.21568278A>TCA1158016195ALPLc.792+31A>T (n.792+31A>T)
c.561+31A>T (n.561+31A>T)
c.627+31A>T (n.627+31A>T)
c.636+31A>T (n.636+31A>T)
dbSNP gnomAD v4
1g.21568279G>ACA2740114636ALPLc.792+32G>A (n.792+32G>A)
c.561+32G>A (n.561+32G>A)
c.627+32G>A (n.627+32G>A)
c.636+32G>A (n.636+32G>A)
1g.21568280G>ACA666610ALPLc.792+33G>A (n.792+33G>A)
c.561+33G>A (n.561+33G>A)
c.627+33G>A (n.627+33G>A)
c.636+33G>A (n.636+33G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.21568280G=CA1158016196ALPLc.792+33G= (n.792+33G=)
c.561+33G= (n.561+33G=)
c.627+33G= (n.627+33G=)
c.636+33G= (n.636+33G=)
1g.21568281T>CCA521577213ALPLc.792+34T>C (n.792+34T>C)
c.561+34T>C (n.561+34T>C)
c.627+34T>C (n.627+34T>C)
c.636+34T>C (n.636+34T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21568281T>GCA1158016198ALPLc.792+34T>G (n.792+34T>G)
c.561+34T>G (n.561+34T>G)
c.627+34T>G (n.627+34T>G)
c.636+34T>G (n.636+34T>G)
dbSNP gnomAD v4
1g.21568281T=CA1158016197ALPLc.792+34T= (n.792+34T=)
c.561+34T= (n.561+34T=)
c.627+34T= (n.627+34T=)
c.636+34T= (n.636+34T=)
1g.21568282G>ACA1158016200ALPLc.792+35G>A (n.792+35G>A)
c.561+35G>A (n.561+35G>A)
c.627+35G>A (n.627+35G>A)
c.636+35G>A (n.636+35G>A)
dbSNP
1g.21568282G=CA1158016199ALPLc.792+35G= (n.792+35G=)
c.561+35G= (n.561+35G=)
c.627+35G= (n.627+35G=)
c.636+35G= (n.636+35G=)
1g.21568282G>TCA2695293749ALPLc.792+35G>T (n.792+35G>T)
c.561+35G>T (n.561+35G>T)
c.627+35G>T (n.627+35G>T)
c.636+35G>T (n.636+35G>T)
dbSNP
1g.21568283G=CA1158016202ALPLc.792+36G= (n.792+36G=)
c.561+36G= (n.561+36G=)
c.627+36G= (n.627+36G=)
c.636+36G= (n.636+36G=)
1g.21568283G>TCA19063565ALPLc.792+36G>T (n.792+36G>T)
c.561+36G>T (n.561+36G>T)
c.627+36G>T (n.627+36G>T)
c.636+36G>T (n.636+36G>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21568283_21568284delinsGCCA1158016201ALPLc.792+36_792+37delinsGC (n.792+36_792+37delinsGC)
c.561+36_561+37delinsGC (n.561+36_561+37delinsGC)
c.627+36_627+37delinsGC (n.627+36_627+37delinsGC)
c.636+36_636+37delinsGC (n.636+36_636+37delinsGC)
1g.21568284C=CA1158016203ALPLc.792+37C= (n.792+37C=)
c.561+37C= (n.561+37C=)
c.627+37C= (n.627+37C=)
c.636+37C= (n.636+37C=)
1g.21568284C>TCA1158016204ALPLc.792+37C>T (n.792+37C>T)
c.561+37C>T (n.561+37C>T)
c.627+37C>T (n.627+37C>T)
c.636+37C>T (n.636+37C>T)
dbSNP gnomAD v4
1g.21568285delCA666611ALPLc.792+38del (n.792+38del)
c.561+38del (n.561+38del)
c.627+38del (n.627+38del)
c.636+38del (n.636+38del)
dbSNP ExAC gnomAD v2
1g.21568287G>ACA2643930968ALPLc.792+40G>A (n.792+40G>A)
c.561+40G>A (n.561+40G>A)
c.627+40G>A (n.627+40G>A)
c.636+40G>A (n.636+40G>A)
gnomAD v4
1g.21568288T>CCA2574253146ALPLc.792+41T>C (n.792+41T>C)
c.561+41T>C (n.561+41T>C)
c.627+41T>C (n.627+41T>C)
c.636+41T>C (n.636+41T>C)
1g.21568290A=CA1158016206ALPLc.792+43A= (n.792+43A=)
c.561+43A= (n.561+43A=)
c.627+43A= (n.627+43A=)
c.636+43A= (n.636+43A=)
1g.21568290A>GCA1158016205ALPLc.792+43A>G (n.792+43A>G)
c.561+43A>G (n.561+43A>G)
c.627+43A>G (n.627+43A>G)
c.636+43A>G (n.636+43A>G)
dbSNP
1g.21568290A>TCA521577215ALPLc.792+43A>T (n.792+43A>T)
c.561+43A>T (n.561+43A>T)
c.627+43A>T (n.627+43A>T)
c.636+43A>T (n.636+43A>T)
dbSNP gnomAD v2
1g.21568292G>ACA2581649585ALPLc.792+45G>A (n.792+45G>A)
c.561+45G>A (n.561+45G>A)
c.627+45G>A (n.627+45G>A)
c.636+45G>A (n.636+45G>A)
1g.21568292G>CCA1158016207ALPLc.792+45G>C (n.792+45G>C)
c.561+45G>C (n.561+45G>C)
c.627+45G>C (n.627+45G>C)
c.636+45G>C (n.636+45G>C)
dbSNP gnomAD v4
1g.21568292G=CA1139990394ALPLc.792+45G= (n.792+45G=)
c.561+45G= (n.561+45G=)
c.627+45G= (n.627+45G=)
c.636+45G= (n.636+45G=)
1g.21568292G>TCA666612ALPLc.792+45G>T (n.792+45G>T)
c.561+45G>T (n.561+45G>T)
c.627+45G>T (n.627+45G>T)
c.636+45G>T (n.636+45G>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21568294_21568295insTGTGTTTGGGGCA2742753766ALPLc.792+47_792+48insTGTGTTTGGGG (n.792+47_792+48insTGTGTTTGGGG)
c.561+47_561+48insTGTGTTTGGGG (n.561+47_561+48insTGTGTTTGGGG)
c.627+47_627+48insTGTGTTTGGGG (n.627+47_627+48insTGTGTTTGGGG)
c.636+47_636+48insTGTGTTTGGGG (n.636+47_636+48insTGTGTTTGGGG)
1g.21568293G>TCA2643930969ALPLc.792+46G>T (n.792+46G>T)
c.561+46G>T (n.561+46G>T)
c.627+46G>T (n.627+46G>T)
c.636+46G>T (n.636+46G>T)
gnomAD v4
1g.21568294_21568295insTCA2742753769ALPLc.792+47_792+48insT (n.792+47_792+48insT)
c.561+47_561+48insT (n.561+47_561+48insT)
c.627+47_627+48insT (n.627+47_627+48insT)
c.636+47_636+48insT (n.636+47_636+48insT)
1g.21568295_21568301delCA2742753770ALPLc.792+48_792+54del (n.792+48_792+54del)
c.561+48_561+54del (n.561+48_561+54del)
c.627+48_627+54del (n.627+48_627+54del)
c.636+48_636+54del (n.636+48_636+54del)
1g.21568296A>TCA2742753771ALPLc.792+49A>T (n.792+49A>T)
c.561+49A>T (n.561+49A>T)
c.627+49A>T (n.627+49A>T)
c.636+49A>T (n.636+49A>T)
1g.21568297G>ACA2643930970ALPLc.792+50G>A (n.792+50G>A)
c.561+50G>A (n.561+50G>A)
c.627+50G>A (n.627+50G>A)
c.636+50G>A (n.636+50G>A)
gnomAD v4
1g.21568298delCA2742753772ALPLc.792+51del (n.792+51del)
c.561+51del (n.561+51del)
c.627+51del (n.627+51del)
c.636+51del (n.636+51del)
1g.21568299G>ACA2643930971ALPLc.792+52G>A (n.792+52G>A)
c.561+52G>A (n.561+52G>A)
c.627+52G>A (n.627+52G>A)
c.636+52G>A (n.636+52G>A)
gnomAD v4
1g.21568300G>ACA19063601ALPLc.792+53G>A (n.792+53G>A)
c.561+53G>A (n.561+53G>A)
c.627+53G>A (n.627+53G>A)
c.636+53G>A (n.636+53G>A)
dbSNP gnomAD v3 gnomAD v4
1g.21568300G=CA1144911367ALPLc.792+53G= (n.792+53G=)
c.561+53G= (n.561+53G=)
c.627+53G= (n.627+53G=)
c.636+53G= (n.636+53G=)
1g.21568301C>ACA2643930972ALPLc.792+54C>A (n.792+54C>A)
c.561+54C>A (n.561+54C>A)
c.627+54C>A (n.627+54C>A)
c.636+54C>A (n.636+54C>A)
gnomAD v4
1g.21568301C>GCA2742753773ALPLc.792+54C>G (n.792+54C>G)
c.561+54C>G (n.561+54C>G)
c.627+54C>G (n.627+54C>G)
c.636+54C>G (n.636+54C>G)
1g.21568301_21568303delinsCTGCA1158016208ALPLc.792+54_792+56delinsCTG (n.792+54_792+56delinsCTG)
c.561+54_561+56delinsCTG (n.561+54_561+56delinsCTG)
c.627+54_627+56delinsCTG (n.627+54_627+56delinsCTG)
c.636+54_636+56delinsCTG (n.636+54_636+56delinsCTG)

Number of alleles fetched