Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.99870411A=CA1183922979AGLc.676A= (p.Lys226=)
n.887A=
c.628A= (p.Lys210=)
c.625A= (p.Lys209=)
1g.99870411A>CCA341339157AGLc.676A>C (p.Lys226Gln)
n.887A>C
c.628A>C (p.Lys210Gln)
c.625A>C (p.Lys209Gln)
1g.99870411A>GCA341339164AGLc.676A>G (p.Lys226Glu)
n.887A>G
c.628A>G (p.Lys210Glu)
c.625A>G (p.Lys209Glu)
 dbSNP
1g.99870411A>TCA341339154AGLc.676A>T (p.Lys226Ter)
n.887A>T
c.628A>T (p.Lys210Ter)
c.625A>T (p.Lys209Ter)
1g.99870412A>CCA341339171AGLc.677A>C (p.Lys226Thr)
n.888A>C
c.629A>C (p.Lys210Thr)
c.626A>C (p.Lys209Thr)
1g.99870412A>GCA341339177AGLc.677A>G (p.Lys226Arg)
n.888A>G
c.629A>G (p.Lys210Arg)
c.626A>G (p.Lys209Arg)
 ClinVar dbSNP gnomAD v4
1g.99870412A>TCA341339175AGLc.677A>T (p.Lys226Ile)
n.888A>T
c.629A>T (p.Lys210Ile)
c.626A>T (p.Lys209Ile)
1g.99870413A>CCA341339182AGLc.678A>C (p.Lys226Asn)
n.889A>C
c.630A>C (p.Lys210Asn)
c.627A>C (p.Lys209Asn)
1g.99870413A>GCA419096386AGLc.678A>G (p.Lys226=)
n.889A>G
c.630A>G (p.Lys210=)
c.627A>G (p.Lys209=)
1g.99870413A>TCA341339184AGLc.678A>T (p.Lys226Asn)
n.889A>T
c.630A>T (p.Lys210Asn)
c.627A>T (p.Lys209Asn)
1g.99870414T>ACA341339185AGLc.679T>A (p.Trp227Arg)
n.890T>A
c.631T>A (p.Trp211Arg)
c.628T>A (p.Trp210Arg)
1g.99870414T>CCA341339186AGLc.679T>C (p.Trp227Arg)
n.890T>C
c.631T>C (p.Trp211Arg)
c.628T>C (p.Trp210Arg)
 dbSNP gnomAD v2 gnomAD v4
1g.99870414T>GCA341339188AGLc.679T>G (p.Trp227Gly)
n.890T>G
c.631T>G (p.Trp211Gly)
c.628T>G (p.Trp210Gly)
1g.99870414T=CA1183922983AGLc.679T= (p.Trp227=)
n.890T=
c.631T= (p.Trp211=)
c.628T= (p.Trp210=)
1g.99870415G>ACA341339191AGLc.680G>A (p.Trp227Ter)
n.891G>A
c.632G>A (p.Trp211Ter)
c.629G>A (p.Trp210Ter)
 ClinVar dbSNP
1g.99870415G>CCA341339192AGLc.680G>C (p.Trp227Ser)
n.891G>C
c.632G>C (p.Trp211Ser)
c.629G>C (p.Trp210Ser)
1g.99870415G=CA1142084231AGLc.680G= (p.Trp227=)
n.891G=
c.632G= (p.Trp211=)
c.629G= (p.Trp210=)
1g.99870415G>TCA966248AGLc.680G>T (p.Trp227Leu)
n.891G>T
c.632G>T (p.Trp211Leu)
c.629G>T (p.Trp210Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99870416G>ACA966249AGLc.681G>A (p.Trp227Ter)
n.892G>A
c.633G>A (p.Trp211Ter)
c.630G>A (p.Trp210Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.99870416G>CCA27568644AGLc.681G>C (p.Trp227Cys)
n.892G>C
c.633G>C (p.Trp211Cys)
c.630G>C (p.Trp210Cys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.99870416G=CA1183922993AGLc.681G= (p.Trp227=)
n.892G=
c.633G= (p.Trp211=)
c.630G= (p.Trp210=)
1g.99870416G>TCA341339201AGLc.681G>T (p.Trp227Cys)
n.892G>T
c.633G>T (p.Trp211Cys)
c.630G>T (p.Trp210Cys)
1g.99870417A>CCA341339217AGLc.682A>C (p.Ile228Leu)
n.893A>C
c.634A>C (p.Ile212Leu)
c.631A>C (p.Ile211Leu)
1g.99870417A>GCA341339215AGLc.682A>G (p.Ile228Val)
n.893A>G
c.634A>G (p.Ile212Val)
c.631A>G (p.Ile211Val)
1g.99870417A>TCA341339208AGLc.682A>T (p.Ile228Phe)
n.893A>T
c.634A>T (p.Ile212Phe)
c.631A>T (p.Ile211Phe)
1g.99870418T>ACA341339220AGLc.683T>A (p.Ile228Asn)
n.894T>A
c.635T>A (p.Ile212Asn)
c.632T>A (p.Ile211Asn)
1g.99870418T>CCA341339222AGLc.683T>C (p.Ile228Thr)
n.894T>C
c.635T>C (p.Ile212Thr)
c.632T>C (p.Ile211Thr)
1g.99870418T>GCA341339223AGLc.683T>G (p.Ile228Ser)
n.894T>G
c.635T>G (p.Ile212Ser)
c.632T>G (p.Ile211Ser)
1g.99870418T=CA1183922997AGLc.683T= (p.Ile228=)
n.894T=
c.635T= (p.Ile212=)
c.632T= (p.Ile211=)
1g.99870419C>ACA419096387AGLc.684C>A (p.Ile228=)
n.895C>A
c.636C>A (p.Ile212=)
c.633C>A (p.Ile211=)
1g.99870419C=CA1183923002AGLc.684C= (p.Ile228=)
n.895C=
c.636C= (p.Ile212=)
c.633C= (p.Ile211=)
1g.99870419C>GCA341339226AGLc.684C>G (p.Ile228Met)
n.895C>G
c.636C>G (p.Ile212Met)
c.633C>G (p.Ile211Met)
1g.99870419C>TCA27568650AGLc.684C>T (p.Ile228=)
n.895C>T
c.636C>T (p.Ile212=)
c.633C>T (p.Ile211=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.99870420dupCA1183923000AGLc.685dup (p.Gln229ProfsTer9)
n.896dup
c.637dup (p.Gln213ProfsTer9)
c.634dup (p.Gln212ProfsTer9)
 dbSNP
1g.99870420C>ACA341339228AGLc.685C>A (p.Gln229Lys)
n.896C>A
c.637C>A (p.Gln213Lys)
c.634C>A (p.Gln212Lys)
1g.99870420C=CA1183923006AGLc.685C= (p.Gln229=)
n.896C=
c.637C= (p.Gln213=)
c.634C= (p.Gln212=)
1g.99870420C>GCA341339229AGLc.685C>G (p.Gln229Glu)
n.896C>G
c.637C>G (p.Gln213Glu)
c.634C>G (p.Gln212Glu)
 gnomAD v4
1g.99870420C>TCA27568658AGLc.685C>T (p.Gln229Ter)
n.896C>T
c.637C>T (p.Gln213Ter)
c.634C>T (p.Gln212Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.99870421A=CA1140463176AGLc.686A= (p.Gln229=)
n.897A=
c.638A= (p.Gln213=)
c.635A= (p.Gln212=)
1g.99870421A>CCA341339231AGLc.686A>C (p.Gln229Pro)
n.897A>C
c.638A>C (p.Gln213Pro)
c.635A>C (p.Gln212Pro)
1g.99870421A>GCA966250AGLc.686A>G (p.Gln229Arg)
n.897A>G
c.638A>G (p.Gln213Arg)
c.635A>G (p.Gln212Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99870421A>TCA341339233AGLc.686A>T (p.Gln229Leu)
n.897A>T
c.638A>T (p.Gln213Leu)
c.635A>T (p.Gln212Leu)
1g.99870422G>ACA419096388AGLc.687G>A (p.Gln229=)
n.898G>A
c.639G>A (p.Gln213=)
c.636G>A (p.Gln212=)
 dbSNP
1g.99870422G>CCA341339235AGLc.687G>C (p.Gln229His)
n.898G>C
c.639G>C (p.Gln213His)
c.636G>C (p.Gln212His)
1g.99870422G=CA1183923016AGLc.687G= (p.Gln229=)
n.898G=
c.639G= (p.Gln213=)
c.636G= (p.Gln212=)
1g.99870422G>TCA341339237AGLc.687G>T (p.Gln229His)
n.898G>T
c.639G>T (p.Gln213His)
c.636G>T (p.Gln212His)
1g.99870423G>ACA341339244AGLc.688G>A (p.Glu230Lys)
n.899G>A
c.640G>A (p.Glu214Lys)
c.637G>A (p.Glu213Lys)
 dbSNP gnomAD v4 COSMIC
1g.99870423G>CCA341339242AGLc.688G>C (p.Glu230Gln)
n.899G>C
c.640G>C (p.Glu214Gln)
c.637G>C (p.Glu213Gln)
1g.99870423G=CA1183923018AGLc.688G= (p.Glu230=)
n.899G=
c.640G= (p.Glu214=)
c.637G= (p.Glu213=)
1g.99870423G>TCA341339241AGLc.688G>T (p.Glu230Ter)
n.899G>T
c.640G>T (p.Glu214Ter)
c.637G>T (p.Glu213Ter)
1g.99870424A=CA1183923023AGLc.689A= (p.Glu230=)
n.900A=
c.641A= (p.Glu214=)
c.638A= (p.Glu213=)
1g.99870424A>CCA341339247AGLc.689A>C (p.Glu230Ala)
n.900A>C
c.641A>C (p.Glu214Ala)
c.638A>C (p.Glu213Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.99870424A>GCA341339250AGLc.689A>G (p.Glu230Gly)
n.900A>G
c.641A>G (p.Glu214Gly)
c.638A>G (p.Glu213Gly)
1g.99870424A>TCA341339252AGLc.689A>T (p.Glu230Val)
n.900A>T
c.641A>T (p.Glu214Val)
c.638A>T (p.Glu213Val)
1g.99870425A>CCA341339254AGLc.690A>C (p.Glu230Asp)
n.901A>C
c.642A>C (p.Glu214Asp)
c.639A>C (p.Glu213Asp)
1g.99870425A>GCA419096389AGLc.690A>G (p.Glu230=)
n.901A>G
c.642A>G (p.Glu214=)
c.639A>G (p.Glu213=)
1g.99870425A>TCA341339255AGLc.690A>T (p.Glu230Asp)
n.901A>T
c.642A>T (p.Glu214Asp)
c.639A>T (p.Glu213Asp)
1g.99870426C>ACA341339257AGLc.691C>A (p.His231Asn)
n.902C>A
c.643C>A (p.His215Asn)
c.640C>A (p.His214Asn)
1g.99870426C=CA1183923027AGLc.691C= (p.His231=)
n.902C=
c.643C= (p.His215=)
c.640C= (p.His214=)
1g.99870426C>GCA341339260AGLc.691C>G (p.His231Asp)
n.902C>G
c.643C>G (p.His215Asp)
c.640C>G (p.His214Asp)
1g.99870426C>TCA341339262AGLc.691C>T (p.His231Tyr)
n.902C>T
c.643C>T (p.His215Tyr)
c.640C>T (p.His214Tyr)
 dbSNP
1g.99870427A>CCA341339265AGLc.692A>C (p.His231Pro)
n.903A>C
c.644A>C (p.His215Pro)
c.641A>C (p.His214Pro)
1g.99870427A>GCA341339266AGLc.692A>G (p.His231Arg)
n.903A>G
c.644A>G (p.His215Arg)
c.641A>G (p.His214Arg)
1g.99870427A>TCA341339269AGLc.692A>T (p.His231Leu)
n.903A>T
c.644A>T (p.His215Leu)
c.641A>T (p.His214Leu)
1g.99870428T>ACA341339271AGLc.693T>A (p.His231Gln)
n.904T>A
c.645T>A (p.His215Gln)
c.642T>A (p.His214Gln)
1g.99870428T>CCA419096390AGLc.693T>C (p.His231=)
n.904T>C
c.645T>C (p.His215=)
c.642T>C (p.His214=)
1g.99870428T>GCA341339273AGLc.693T>G (p.His231Gln)
n.904T>G
c.645T>G (p.His215Gln)
c.642T>G (p.His214Gln)
1g.99870429C>ACA341339278AGLc.694C>A (p.Pro232Thr)
n.905C>A
c.646C>A (p.Pro216Thr)
c.643C>A (p.Pro215Thr)
1g.99870429C>GCA341339276AGLc.694C>G (p.Pro232Ala)
n.905C>G
c.646C>G (p.Pro216Ala)
c.643C>G (p.Pro215Ala)
 gnomAD v4
1g.99870429C>TCA341339277AGLc.694C>T (p.Pro232Ser)
n.905C>T
c.646C>T (p.Pro216Ser)
c.643C>T (p.Pro215Ser)
 gnomAD v4
1g.99870430C>ACA341339281AGLc.695C>A (p.Pro232Gln)
n.906C>A
c.647C>A (p.Pro216Gln)
c.644C>A (p.Pro215Gln)
1g.99870430C>GCA341339283AGLc.695C>G (p.Pro232Arg)
n.906C>G
c.647C>G (p.Pro216Arg)
c.644C>G (p.Pro215Arg)
1g.99870430C>TCA341339285AGLc.695C>T (p.Pro232Leu)
n.906C>T
c.647C>T (p.Pro216Leu)
c.644C>T (p.Pro215Leu)
1g.99870431A=CA1183923032AGLc.696A= (p.Pro232=)
n.907A=
c.648A= (p.Pro216=)
c.645A= (p.Pro215=)
1g.99870431A>CCA419096391AGLc.696A>C (p.Pro232=)
n.907A>C
c.648A>C (p.Pro216=)
c.645A>C (p.Pro215=)
1g.99870431A>GCA419096392AGLc.696A>G (p.Pro232=)
n.907A>G
c.648A>G (p.Pro216=)
c.645A>G (p.Pro215=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.99870431A>TCA419096393AGLc.696A>T (p.Pro232=)
n.907A>T
c.648A>T (p.Pro216=)
c.645A>T (p.Pro215=)
1g.99870432G>ACA341339289AGLc.697G>A (p.Glu233Lys)
n.908G>A
c.649G>A (p.Glu217Lys)
c.646G>A (p.Glu216Lys)
1g.99870432G>CCA341339294AGLc.697G>C (p.Glu233Gln)
n.908G>C
c.649G>C (p.Glu217Gln)
c.646G>C (p.Glu216Gln)
1g.99870432G>TCA341339297AGLc.697G>T (p.Glu233Ter)
n.908G>T
c.649G>T (p.Glu217Ter)
c.646G>T (p.Glu216Ter)
1g.99870433A>CCA341339300AGLc.698A>C (p.Glu233Ala)
n.909A>C
c.650A>C (p.Glu217Ala)
c.647A>C (p.Glu216Ala)
1g.99870433A>GCA341339301AGLc.698A>G (p.Glu233Gly)
n.909A>G
c.650A>G (p.Glu217Gly)
c.647A>G (p.Glu216Gly)
1g.99870433A>TCA341339302AGLc.698A>T (p.Glu233Val)
n.909A>T
c.650A>T (p.Glu217Val)
c.647A>T (p.Glu216Val)
1g.99870434A>CCA341339304AGLc.699A>C (p.Glu233Asp)
n.910A>C
c.651A>C (p.Glu217Asp)
c.648A>C (p.Glu216Asp)
1g.99870434A>GCA419096394AGLc.699A>G (p.Glu233=)
n.910A>G
c.651A>G (p.Glu217=)
c.648A>G (p.Glu216=)
1g.99870434A>TCA341339306AGLc.699A>T (p.Glu233Asp)
n.910A>T
c.651A>T (p.Glu217Asp)
c.648A>T (p.Glu216Asp)
1g.99870435T>ACA341339316AGLc.700T>A (p.Cys234Ser)
n.911T>A
c.652T>A (p.Cys218Ser)
c.649T>A (p.Cys217Ser)
 gnomAD v4
1g.99870435T>CCA341339312AGLc.700T>C (p.Cys234Arg)
n.911T>C
c.652T>C (p.Cys218Arg)
c.649T>C (p.Cys217Arg)
 dbSNP
1g.99870435T>GCA341339309AGLc.700T>G (p.Cys234Gly)
n.911T>G
c.652T>G (p.Cys218Gly)
c.649T>G (p.Cys217Gly)
1g.99870435T=CA1183923038AGLc.700T= (p.Cys234=)
n.911T=
c.652T= (p.Cys218=)
c.649T= (p.Cys217=)
1g.99870436G>ACA966251AGLc.701G>A (p.Cys234Tyr)
n.912G>A
c.653G>A (p.Cys218Tyr)
c.650G>A (p.Cys217Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.99870436G>CCA341339326AGLc.701G>C (p.Cys234Ser)
n.912G>C
c.653G>C (p.Cys218Ser)
c.650G>C (p.Cys217Ser)
1g.99870436G=CA1183923042AGLc.701G= (p.Cys234=)
n.912G=
c.653G= (p.Cys218=)
c.650G= (p.Cys217=)
1g.99870436G>TCA341339323AGLc.701G>T (p.Cys234Phe)
n.912G>T
c.653G>T (p.Cys218Phe)
c.650G>T (p.Cys217Phe)
1g.99870437T>ACA341339331AGLc.702T>A (p.Cys234Ter)
n.913T>A
c.654T>A (p.Cys218Ter)
c.651T>A (p.Cys217Ter)
1g.99870437T>CCA419096396AGLc.702T>C (p.Cys234=)
n.913T>C
c.654T>C (p.Cys218=)
c.651T>C (p.Cys217=)
1g.99870437T>GCA341339334AGLc.702T>G (p.Cys234Trp)
n.913T>G
c.654T>G (p.Cys218Trp)
c.651T>G (p.Cys217Trp)
1g.99870438G>ACA341339340AGLc.703G>A (p.Ala235Thr)
n.914G>A
c.655G>A (p.Ala219Thr)
c.652G>A (p.Ala218Thr)
 ClinVar dbSNP gnomAD v4
1g.99870438G>CCA341339341AGLc.703G>C (p.Ala235Pro)
n.914G>C
c.655G>C (p.Ala219Pro)
c.652G>C (p.Ala218Pro)
1g.99870438G=CA1183923043AGLc.703G= (p.Ala235=)
n.914G=
c.655G= (p.Ala219=)
c.652G= (p.Ala218=)
1g.99870438G>TCA341339345AGLc.703G>T (p.Ala235Ser)
n.914G>T
c.655G>T (p.Ala219Ser)
c.652G>T (p.Ala218Ser)
1g.99870439C>ACA341339348AGLc.704C>A (p.Ala235Asp)
n.915C>A
c.656C>A (p.Ala219Asp)
c.653C>A (p.Ala218Asp)
1g.99870439C>GCA341339351AGLc.704C>G (p.Ala235Gly)
n.915C>G
c.656C>G (p.Ala219Gly)
c.653C>G (p.Ala218Gly)
1g.99870439C>TCA341339354AGLc.704C>T (p.Ala235Val)
n.915C>T
c.656C>T (p.Ala219Val)
c.653C>T (p.Ala218Val)
1g.99870440C>ACA419096397AGLc.705C>A (p.Ala235=)
n.916C>A
c.657C>A (p.Ala219=)
c.654C>A (p.Ala218=)
1g.99870440C>GCA419096398AGLc.705C>G (p.Ala235=)
n.916C>G
c.657C>G (p.Ala219=)
c.654C>G (p.Ala218=)
1g.99870440C>TCA419096399AGLc.705C>T (p.Ala235=)
n.916C>T
c.657C>T (p.Ala219=)
c.654C>T (p.Ala218=)
 gnomAD v4
1g.99870441T>ACA341339357AGLc.706T>A (p.Tyr236Asn)
n.917T>A
c.658T>A (p.Tyr220Asn)
c.655T>A (p.Tyr219Asn)
1g.99870441T>CCA341339360AGLc.706T>C (p.Tyr236His)
n.917T>C
c.658T>C (p.Tyr220His)
c.655T>C (p.Tyr219His)
1g.99870441T>GCA341339365AGLc.706T>G (p.Tyr236Asp)
n.917T>G
c.658T>G (p.Tyr220Asp)
c.655T>G (p.Tyr219Asp)
1g.99870442A=CA1183923047AGLc.707A= (p.Tyr236=)
n.918A=
c.659A= (p.Tyr220=)
c.656A= (p.Tyr219=)
1g.99870442A>CCA341339369AGLc.707A>C (p.Tyr236Ser)
n.918A>C
c.659A>C (p.Tyr220Ser)
c.656A>C (p.Tyr219Ser)
1g.99870442A>GCA341339373AGLc.707A>G (p.Tyr236Cys)
n.918A>G
c.659A>G (p.Tyr220Cys)
c.656A>G (p.Tyr219Cys)
 dbSNP gnomAD v4
1g.99870442A>TCA341339377AGLc.707A>T (p.Tyr236Phe)
n.918A>T
c.659A>T (p.Tyr220Phe)
c.656A>T (p.Tyr219Phe)
1g.99870443T>ACA341339383AGLc.708T>A (p.Tyr236Ter)
n.919T>A
c.660T>A (p.Tyr220Ter)
c.657T>A (p.Tyr219Ter)
1g.99870443T>CCA419096400AGLc.708T>C (p.Tyr236=)
n.919T>C
c.660T>C (p.Tyr220=)
c.657T>C (p.Tyr219=)
1g.99870443T>GCA341339381AGLc.708T>G (p.Tyr236Ter)
n.919T>G
c.660T>G (p.Tyr220Ter)
c.657T>G (p.Tyr219Ter)
1g.99870444A>CCA341339388AGLc.709A>C (p.Asn237His)
n.920A>C
c.661A>C (p.Asn221His)
c.658A>C (p.Asn220His)
1g.99870444A>GCA341339390AGLc.709A>G (p.Asn237Asp)
n.920A>G
c.661A>G (p.Asn221Asp)
c.658A>G (p.Asn220Asp)
1g.99870444A>TCA341339393AGLc.709A>T (p.Asn237Tyr)
n.920A>T
c.661A>T (p.Asn221Tyr)
c.658A>T (p.Asn220Tyr)
1g.99870445A=CA1183923052AGLc.710A= (p.Asn237=)
n.921A=
c.662A= (p.Asn221=)
c.659A= (p.Asn220=)
1g.99870445A>CCA341339397AGLc.710A>C (p.Asn237Thr)
n.921A>C
c.662A>C (p.Asn221Thr)
c.659A>C (p.Asn220Thr)
1g.99870445A>GCA341339398AGLc.710A>G (p.Asn237Ser)
n.921A>G
c.662A>G (p.Asn221Ser)
c.659A>G (p.Asn220Ser)
 ClinVar dbSNP
1g.99870445A>TCA341339402AGLc.710A>T (p.Asn237Ile)
n.921A>T
c.662A>T (p.Asn221Ile)
c.659A>T (p.Asn220Ile)
1g.99870446T>ACA341339405AGLc.711T>A (p.Asn237Lys)
n.922T>A
c.663T>A (p.Asn221Lys)
c.660T>A (p.Asn220Lys)
1g.99870446T>CCA419096401AGLc.711T>C (p.Asn237=)
n.922T>C
c.663T>C (p.Asn221=)
c.660T>C (p.Asn220=)
1g.99870446T>GCA341339408AGLc.711T>G (p.Asn237Lys)
n.922T>G
c.663T>G (p.Asn221Lys)
c.660T>G (p.Asn220Lys)
1g.99870447C>ACA341339411AGLc.712C>A (p.Leu238Ile)
n.923C>A
c.664C>A (p.Leu222Ile)
c.661C>A (p.Leu221Ile)
1g.99870447C>GCA341339414AGLc.712C>G (p.Leu238Val)
n.923C>G
c.664C>G (p.Leu222Val)
c.661C>G (p.Leu221Val)
1g.99870447C>TCA341339416AGLc.712C>T (p.Leu238Phe)
n.923C>T
c.664C>T (p.Leu222Phe)
c.661C>T (p.Leu221Phe)
1g.99870448T>ACA341339435AGLc.713T>A (p.Leu238His)
n.924T>A
c.665T>A (p.Leu222His)
c.662T>A (p.Leu221His)
1g.99870448T>CCA341339432AGLc.713T>C (p.Leu238Pro)
n.924T>C
c.665T>C (p.Leu222Pro)
c.662T>C (p.Leu221Pro)
1g.99870448T>GCA341339428AGLc.713T>G (p.Leu238Arg)
n.924T>G
c.665T>G (p.Leu222Arg)
c.662T>G (p.Leu221Arg)
1g.99870449T>ACA419096402AGLc.714T>A (p.Leu238=)
n.925T>A
c.666T>A (p.Leu222=)
c.663T>A (p.Leu221=)
 dbSNP
1g.99870449T>CCA419096403AGLc.714T>C (p.Leu238=)
n.925T>C
c.666T>C (p.Leu222=)
c.663T>C (p.Leu221=)
 gnomAD v4
1g.99870449T>GCA419096404AGLc.714T>G (p.Leu238=)
n.925T>G
c.666T>G (p.Leu222=)
c.663T>G (p.Leu221=)
1g.99870449T=CA1183923057AGLc.714T= (p.Leu238=)
n.925T=
c.666T= (p.Leu222=)
c.663T= (p.Leu221=)
1g.99870450G>ACA341339439AGLc.715G>A (p.Val239Met)
n.926G>A
c.667G>A (p.Val223Met)
c.664G>A (p.Val222Met)
 gnomAD v4
1g.99870450G>CCA341339441AGLc.715G>C (p.Val239Leu)
n.926G>C
c.667G>C (p.Val223Leu)
c.664G>C (p.Val222Leu)
1g.99870450G>TCA341339445AGLc.715G>T (p.Val239Leu)
n.926G>T
c.667G>T (p.Val223Leu)
c.664G>T (p.Val222Leu)
1g.99870451T>ACA341339449AGLc.716T>A (p.Val239Glu)
n.927T>A
c.668T>A (p.Val223Glu)
c.665T>A (p.Val222Glu)
1g.99870451T>CCA341339451AGLc.716T>C (p.Val239Ala)
n.927T>C
c.668T>C (p.Val223Ala)
c.665T>C (p.Val222Ala)
1g.99870451T>GCA341339454AGLc.716T>G (p.Val239Gly)
n.927T>G
c.668T>G (p.Val223Gly)
c.665T>G (p.Val222Gly)
1g.99870451dupCA2499214914AGLc.716dup (p.Asn240GlufsTer21)
n.927dup
c.668dup (p.Asn224GlufsTer21)
c.665dup (p.Asn223GlufsTer21)
 ClinVar dbSNP gnomAD v4
1g.99870452G>ACA419096405AGLc.717G>A (p.Val239=)
n.928G>A
c.669G>A (p.Val223=)
c.666G>A (p.Val222=)
1g.99870452G>CCA419096406AGLc.717G>C (p.Val239=)
n.928G>C
c.669G>C (p.Val223=)
c.666G>C (p.Val222=)
1g.99870452G>TCA419096407AGLc.717G>T (p.Val239=)
n.928G>T
c.669G>T (p.Val223=)
c.666G>T (p.Val222=)
 gnomAD v4
1g.99870453A>CCA341339455AGLc.718A>C (p.Asn240His)
n.929A>C
c.670A>C (p.Asn224His)
c.667A>C (p.Asn223His)
1g.99870453A>GCA341339456AGLc.718A>G (p.Asn240Asp)
n.929A>G
c.670A>G (p.Asn224Asp)
c.667A>G (p.Asn223Asp)
1g.99870453A>TCA341339457AGLc.718A>T (p.Asn240Tyr)
n.929A>T
c.670A>T (p.Asn224Tyr)
c.667A>T (p.Asn223Tyr)
1g.99870453_99870465delCA2744755502AGLc.718_730del (p.Asn240Ter)
n.929_941del
c.670_682del (p.Asn224Ter)
c.667_679del (p.Asn223Ter)
1g.99870454A=CA1183923060AGLc.719A= (p.Asn240=)
n.930A=
c.671A= (p.Asn224=)
c.668A= (p.Asn223=)
1g.99870454A>CCA341339461AGLc.719A>C (p.Asn240Thr)
n.930A>C
c.671A>C (p.Asn224Thr)
c.668A>C (p.Asn223Thr)
1g.99870454A>GCA341339463AGLc.719A>G (p.Asn240Ser)
n.930A>G
c.671A>G (p.Asn224Ser)
c.668A>G (p.Asn223Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.99870454A>TCA341339468AGLc.719A>T (p.Asn240Ile)
n.930A>T
c.671A>T (p.Asn224Ile)
c.668A>T (p.Asn223Ile)
1g.99870455T>ACA341339480AGLc.720T>A (p.Asn240Lys)
n.931T>A
c.672T>A (p.Asn224Lys)
c.669T>A (p.Asn223Lys)
1g.99870455T>CCA966252AGLc.720T>C (p.Asn240=)
n.931T>C
c.672T>C (p.Asn224=)
c.669T>C (p.Asn223=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.99870455T>GCA341339478AGLc.720T>G (p.Asn240Lys)
n.931T>G
c.672T>G (p.Asn224Lys)
c.669T>G (p.Asn223Lys)
1g.99870455T=CA1183923065AGLc.720T= (p.Asn240=)
n.931T=
c.672T= (p.Asn224=)
c.669T= (p.Asn223=)
1g.99870456T>ACA341339489AGLc.721T>A (p.Ser241Thr)
n.932T>A
c.673T>A (p.Ser225Thr)
c.670T>A (p.Ser224Thr)
1g.99870456T>CCA341339492AGLc.721T>C (p.Ser241Pro)
n.932T>C
c.673T>C (p.Ser225Pro)
c.670T>C (p.Ser224Pro)
 dbSNP gnomAD v2 gnomAD v4
1g.99870456T>GCA341339494AGLc.721T>G (p.Ser241Ala)
n.932T>G
c.673T>G (p.Ser225Ala)
c.670T>G (p.Ser224Ala)
1g.99870456T=CA1183923069AGLc.721T= (p.Ser241=)
n.932T=
c.673T= (p.Ser225=)
c.670T= (p.Ser224=)
1g.99870457C>ACA341339499AGLc.722C>A (p.Ser241Tyr)
n.933C>A
c.674C>A (p.Ser225Tyr)
c.671C>A (p.Ser224Tyr)
 ClinVar dbSNP COSMIC COSMIC
1g.99870457C>GCA341339502AGLc.722C>G (p.Ser241Cys)
n.933C>G
c.674C>G (p.Ser225Cys)
c.671C>G (p.Ser224Cys)
1g.99870457C>TCA341339505AGLc.722C>T (p.Ser241Phe)
n.933C>T
c.674C>T (p.Ser225Phe)
c.671C>T (p.Ser224Phe)
1g.99870458T>ACA419096408AGLc.723T>A (p.Ser241=)
n.934T>A
c.675T>A (p.Ser225=)
c.672T>A (p.Ser224=)
1g.99870458T>CCA419096410AGLc.723T>C (p.Ser241=)
n.934T>C
c.675T>C (p.Ser225=)
c.672T>C (p.Ser224=)
1g.99870458T>GCA419096409AGLc.723T>G (p.Ser241=)
n.934T>G
c.675T>G (p.Ser225=)
c.672T>G (p.Ser224=)
1g.99870459C>ACA341339509AGLc.724C>A (p.Pro242Thr)
n.935C>A
c.676C>A (p.Pro226Thr)
c.673C>A (p.Pro225Thr)
1g.99870459C=CA1144452612AGLc.724C= (p.Pro242=)
n.935C=
c.676C= (p.Pro226=)
c.673C= (p.Pro225=)
1g.99870459C>GCA966253AGLc.724C>G (p.Pro242Ala)
n.935C>G
c.676C>G (p.Pro226Ala)
c.673C>G (p.Pro225Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.99870459C>TCA341339515AGLc.724C>T (p.Pro242Ser)
n.935C>T
c.676C>T (p.Pro226Ser)
c.673C>T (p.Pro225Ser)
 ClinVar dbSNP
1g.99870460C>ACA341339520AGLc.725C>A (p.Pro242Gln)
n.936C>A
c.677C>A (p.Pro226Gln)
c.674C>A (p.Pro225Gln)
1g.99870460C>GCA341339523AGLc.725C>G (p.Pro242Arg)
n.936C>G
c.677C>G (p.Pro226Arg)
c.674C>G (p.Pro225Arg)
1g.99870460C>TCA341339525AGLc.725C>T (p.Pro242Leu)
n.936C>T
c.677C>T (p.Pro226Leu)
c.674C>T (p.Pro225Leu)
1g.99870461A>CCA419096411AGLc.726A>C (p.Pro242=)
n.937A>C
c.678A>C (p.Pro226=)
c.675A>C (p.Pro225=)
1g.99870461A>GCA419096412AGLc.726A>G (p.Pro242=)
n.937A>G
c.678A>G (p.Pro226=)
c.675A>G (p.Pro225=)
 ClinVar
1g.99870461A>TCA419096413AGLc.726A>T (p.Pro242=)
n.937A>T
c.678A>T (p.Pro226=)
c.675A>T (p.Pro225=)
1g.99870462C>ACA341339536AGLc.727C>A (p.His243Asn)
n.938C>A
c.679C>A (p.His227Asn)
c.676C>A (p.His226Asn)
1g.99870462C>GCA341339540AGLc.727C>G (p.His243Asp)
n.938C>G
c.679C>G (p.His227Asp)
c.676C>G (p.His226Asp)
1g.99870462C>TCA341339533AGLc.727C>T (p.His243Tyr)
n.938C>T
c.679C>T (p.His227Tyr)
c.676C>T (p.His226Tyr)
1g.99870463A=CA1183923073AGLc.728A= (p.His243=)
n.939A=
c.680A= (p.His227=)
c.677A= (p.His226=)
1g.99870463A>CCA341339553AGLc.728A>C (p.His243Pro)
n.939A>C
c.680A>C (p.His227Pro)
c.677A>C (p.His226Pro)
1g.99870463A>GCA341339546AGLc.728A>G (p.His243Arg)
n.939A>G
c.680A>G (p.His227Arg)
c.677A>G (p.His226Arg)
 dbSNP
1g.99870463A>TCA341339549AGLc.728A>T (p.His243Leu)
n.939A>T
c.680A>T (p.His227Leu)
c.677A>T (p.His226Leu)
 gnomAD v4
1g.99870464C>ACA341339557AGLc.729C>A (p.His243Gln)
n.940C>A
c.681C>A (p.His227Gln)
c.678C>A (p.His226Gln)
1g.99870464C>GCA341339560AGLc.729C>G (p.His243Gln)
n.940C>G
c.681C>G (p.His227Gln)
c.678C>G (p.His226Gln)
1g.99870464C>TCA419096414AGLc.729C>T (p.His243=)
n.940C>T
c.681C>T (p.His227=)
c.678C>T (p.His226=)
 ClinVar dbSNP gnomAD v4
1g.99870465T>ACA341339565AGLc.730T>A (p.Leu244Ile)
n.941T>A
c.682T>A (p.Leu228Ile)
c.679T>A (p.Leu227Ile)
1g.99870465T>CCA419096415AGLc.730T>C (p.Leu244=)
n.941T>C
c.682T>C (p.Leu228=)
c.679T>C (p.Leu227=)
1g.99870465T>GCA341339568AGLc.730T>G (p.Leu244Val)
n.941T>G
c.682T>G (p.Leu228Val)
c.679T>G (p.Leu227Val)
1g.99870466T>ACA341339580AGLc.731T>A (p.Leu244Ter)
n.942T>A
c.683T>A (p.Leu228Ter)
c.680T>A (p.Leu227Ter)
1g.99870466T>CCA341339572AGLc.731T>C (p.Leu244Ser)
n.942T>C
c.683T>C (p.Leu228Ser)
c.680T>C (p.Leu227Ser)
1g.99870466T>GCA341339575AGLc.731T>G (p.Leu244Ter)
n.942T>G
c.683T>G (p.Leu228Ter)
c.680T>G (p.Leu227Ter)
1g.99870467A>CCA341339584AGLc.732A>C (p.Leu244Phe)
n.943A>C
c.684A>C (p.Leu228Phe)
c.681A>C (p.Leu227Phe)
1g.99870467A>GCA419096416AGLc.732A>G (p.Leu244=)
n.943A>G
c.684A>G (p.Leu228=)
c.681A>G (p.Leu227=)
1g.99870467A>TCA341339589AGLc.732A>T (p.Leu244Phe)
n.943A>T
c.684A>T (p.Leu228Phe)
c.681A>T (p.Leu227Phe)
1g.99870468A>CCA341339593AGLc.733A>C (p.Lys245Gln)
n.944A>C
c.685A>C (p.Lys229Gln)
c.682A>C (p.Lys228Gln)
1g.99870468A>GCA341339596AGLc.733A>G (p.Lys245Glu)
n.944A>G
c.685A>G (p.Lys229Glu)
c.682A>G (p.Lys228Glu)
1g.99870468A>TCA341339599AGLc.733A>T (p.Lys245Ter)
n.944A>T
c.685A>T (p.Lys229Ter)
c.682A>T (p.Lys228Ter)
1g.99870468_99870469insGCA2744755503AGLc.733_734insG (p.Lys245ArgfsTer16)
n.944_945insG
c.685_686insG (p.Lys229ArgfsTer16)
c.682_683insG (p.Lys228ArgfsTer16)
1g.99870469A>CCA341339603AGLc.734A>C (p.Lys245Thr)
n.945A>C
c.686A>C (p.Lys229Thr)
c.683A>C (p.Lys228Thr)
1g.99870469A>GCA341339613AGLc.734A>G (p.Lys245Arg)
n.945A>G
c.686A>G (p.Lys229Arg)
c.683A>G (p.Lys228Arg)
1g.99870469A>TCA341339608AGLc.734A>T (p.Lys245Ile)
n.945A>T
c.686A>T (p.Lys229Ile)
c.683A>T (p.Lys228Ile)
1g.99870470A=CA1183923076AGLc.735A= (p.Lys245=)
n.946A=
c.687A= (p.Lys229=)
c.684A= (p.Lys228=)
1g.99870470A>CCA341339616AGLc.735A>C (p.Lys245Asn)
n.946A>C
c.687A>C (p.Lys229Asn)
c.684A>C (p.Lys228Asn)
1g.99870470A>GCA419096417AGLc.735A>G (p.Lys245=)
n.946A>G
c.687A>G (p.Lys229=)
c.684A>G (p.Lys228=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.99870470A>TCA341339618AGLc.735A>T (p.Lys245Asn)
n.946A>T
c.687A>T (p.Lys229Asn)
c.684A>T (p.Lys228Asn)
1g.99870471C>ACA341339621AGLc.736C>A (p.Pro246Thr)
n.947C>A
c.688C>A (p.Pro230Thr)
c.685C>A (p.Pro229Thr)
1g.99870471C=CA1143726803AGLc.736C= (p.Pro246=)
n.947C=
c.688C= (p.Pro230=)
c.685C= (p.Pro229=)
1g.99870471C>GCA966254AGLc.736C>G (p.Pro246Ala)
n.947C>G
c.688C>G (p.Pro230Ala)
c.685C>G (p.Pro229Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99870471C>TCA27568678AGLc.736C>T (p.Pro246Ser)
n.947C>T
c.688C>T (p.Pro230Ser)
c.685C>T (p.Pro229Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.99870471_99870479delCA2744755504AGLc.736_744del (p.Pro246_Trp248del)
n.947_955del
c.688_696del (p.Pro230_Trp232del)
c.685_693del (p.Pro229_Trp231del)
1g.99870472C>ACA341339630AGLc.737C>A (p.Pro246His)
n.948C>A
c.689C>A (p.Pro230His)
c.686C>A (p.Pro229His)
1g.99870472C>GCA341339633AGLc.737C>G (p.Pro246Arg)
n.948C>G
c.689C>G (p.Pro230Arg)
c.686C>G (p.Pro229Arg)
1g.99870472C>TCA341339636AGLc.737C>T (p.Pro246Leu)
n.948C>T
c.689C>T (p.Pro230Leu)
c.686C>T (p.Pro229Leu)
1g.99870473T>ACA419096418AGLc.738T>A (p.Pro246=)
n.949T>A
c.690T>A (p.Pro230=)
c.687T>A (p.Pro229=)
1g.99870473T>CCA419096419AGLc.738T>C (p.Pro246=)
n.949T>C
c.690T>C (p.Pro230=)
c.687T>C (p.Pro229=)
 ClinVar dbSNP
1g.99870473T>GCA419096420AGLc.738T>G (p.Pro246=)
n.949T>G
c.690T>G (p.Pro230=)
c.687T>G (p.Pro229=)
1g.99870474G>ACA341339641AGLc.739G>A (p.Ala247Thr)
n.950G>A
c.691G>A (p.Ala231Thr)
c.688G>A (p.Ala230Thr)
1g.99870474G>CCA341339643AGLc.739G>C (p.Ala247Pro)
n.950G>C
c.691G>C (p.Ala231Pro)
c.688G>C (p.Ala230Pro)
1g.99870474G=CA1148459915AGLc.739G= (p.Ala247=)
n.950G=
c.691G= (p.Ala231=)
c.688G= (p.Ala230=)
1g.99870474G>TCA966255AGLc.739G>T (p.Ala247Ser)
n.950G>T
c.691G>T (p.Ala231Ser)
c.688G>T (p.Ala230Ser)
 dbSNP ExAC gnomAD v2
1g.99870475C>ACA341339657AGLc.740C>A (p.Ala247Asp)
n.951C>A
c.692C>A (p.Ala231Asp)
c.689C>A (p.Ala230Asp)
1g.99870475C>GCA341339656AGLc.740C>G (p.Ala247Gly)
n.951C>G
c.692C>G (p.Ala231Gly)
c.689C>G (p.Ala230Gly)
1g.99870475C>TCA341339652AGLc.740C>T (p.Ala247Val)
n.951C>T
c.692C>T (p.Ala231Val)
c.689C>T (p.Ala230Val)
1g.99870476dupCA524878443AGLc.741dup (p.Trp248LeufsTer13)
n.952dup
c.693dup (p.Trp232LeufsTer13)
c.690dup (p.Trp231LeufsTer13)
 dbSNP gnomAD v2 gnomAD v4
1g.99870476C>ACA419096421AGLc.741C>A (p.Ala247=)
n.952C>A
c.693C>A (p.Ala231=)
c.690C>A (p.Ala230=)
1g.99870476C>GCA419096423AGLc.741C>G (p.Ala247=)
n.952C>G
c.693C>G (p.Ala231=)
c.690C>G (p.Ala230=)
1g.99870476C>TCA419096422AGLc.741C>T (p.Ala247=)
n.952C>T
c.693C>T (p.Ala231=)
c.690C>T (p.Ala230=)
1g.99870477T>ACA341339663AGLc.742T>A (p.Trp248Arg)
n.953T>A
c.694T>A (p.Trp232Arg)
c.691T>A (p.Trp231Arg)
1g.99870477T>CCA341339671AGLc.742T>C (p.Trp248Arg)
n.953T>C
c.694T>C (p.Trp232Arg)
c.691T>C (p.Trp231Arg)
 ClinVar dbSNP
1g.99870477T>GCA341339667AGLc.742T>G (p.Trp248Gly)
n.953T>G
c.694T>G (p.Trp232Gly)
c.691T>G (p.Trp231Gly)
1g.99870478G>ACA341339675AGLc.743G>A (p.Trp248Ter)
n.954G>A
c.695G>A (p.Trp232Ter)
c.692G>A (p.Trp231Ter)
 ClinVar
1g.99870478G>CCA341339678AGLc.743G>C (p.Trp248Ser)
n.954G>C
c.695G>C (p.Trp232Ser)
c.692G>C (p.Trp231Ser)
1g.99870478G>TCA341339679AGLc.743G>T (p.Trp248Leu)
n.954G>T
c.695G>T (p.Trp232Leu)
c.692G>T (p.Trp231Leu)
1g.99870479G>ACA341339682AGLc.744G>A (p.Trp248Ter)
n.955G>A
c.696G>A (p.Trp232Ter)
c.693G>A (p.Trp231Ter)
1g.99870479G>CCA341339685AGLc.744G>C (p.Trp248Cys)
n.955G>C
c.696G>C (p.Trp232Cys)
c.693G>C (p.Trp231Cys)
1g.99870479G>TCA341339687AGLc.744G>T (p.Trp248Cys)
n.955G>T
c.696G>T (p.Trp232Cys)
c.693G>T (p.Trp231Cys)
 gnomAD v4
1g.99870480G>ACA341339694AGLc.745G>A (p.Val249Ile)
n.956G>A
c.697G>A (p.Val233Ile)
c.694G>A (p.Val232Ile)
1g.99870480G>CCA341339695AGLc.745G>C (p.Val249Leu)
n.956G>C
c.697G>C (p.Val233Leu)
c.694G>C (p.Val232Leu)
1g.99870480G>TCA341339699AGLc.745G>T (p.Val249Phe)
n.956G>T
c.697G>T (p.Val233Phe)
c.694G>T (p.Val232Phe)
1g.99870481T>ACA341339704AGLc.746T>A (p.Val249Asp)
n.957T>A
c.698T>A (p.Val233Asp)
c.695T>A (p.Val232Asp)
1g.99870481T>CCA341339706AGLc.746T>C (p.Val249Ala)
n.957T>C
c.698T>C (p.Val233Ala)
c.695T>C (p.Val232Ala)
 gnomAD v4
1g.99870481T>GCA341339708AGLc.746T>G (p.Val249Gly)
n.957T>G
c.698T>G (p.Val233Gly)
c.695T>G (p.Val232Gly)
1g.99870482C>ACA419096424AGLc.747C>A (p.Val249=)
n.958C>A
c.699C>A (p.Val233=)
c.696C>A (p.Val232=)
1g.99870482C>GCA419096425AGLc.747C>G (p.Val249=)
n.958C>G
c.699C>G (p.Val233=)
c.696C>G (p.Val232=)
 ClinVar
1g.99870482C>TCA419096426AGLc.747C>T (p.Val249=)
n.958C>T
c.699C>T (p.Val233=)
c.696C>T (p.Val232=)
 gnomAD v4
1g.99870483T>ACA341339713AGLc.748T>A (p.Leu250Ile)
n.959T>A
c.700T>A (p.Leu234Ile)
c.697T>A (p.Leu233Ile)
1g.99870483T>CCA419096427AGLc.748T>C (p.Leu250=)
n.959T>C
c.700T>C (p.Leu234=)
c.697T>C (p.Leu233=)
1g.99870483T>GCA341339716AGLc.748T>G (p.Leu250Val)
n.959T>G
c.700T>G (p.Leu234Val)
c.697T>G (p.Leu233Val)
1g.99870484T>ACA341339722AGLc.749T>A (p.Leu250Ter)
n.960T>A
c.701T>A (p.Leu234Ter)
c.698T>A (p.Leu233Ter)
1g.99870484T>CCA341339725AGLc.749T>C (p.Leu250Ser)
n.960T>C
c.701T>C (p.Leu234Ser)
c.698T>C (p.Leu233Ser)
1g.99870484T>GCA341339727AGLc.749T>G (p.Leu250Ter)
n.960T>G
c.701T>G (p.Leu234Ter)
c.698T>G (p.Leu233Ter)
1g.99870484_99870488delinsTAGACCA1183923091AGLc.749_753delinsTAGAC (p.Leu250=)
n.960_964delinsTAGAC
c.701_705delinsTAGAC (p.Leu234=)
c.698_702delinsTAGAC (p.Leu233=)
1g.99870485A>CCA341339732AGLc.750A>C (p.Leu250Phe)
n.961A>C
c.702A>C (p.Leu234Phe)
c.699A>C (p.Leu233Phe)
1g.99870485A>GCA419096428AGLc.750A>G (p.Leu250=)
n.961A>G
c.702A>G (p.Leu234=)
c.699A>G (p.Leu233=)
1g.99870485A>TCA341339736AGLc.750A>T (p.Leu250Phe)
n.961A>T
c.702A>T (p.Leu234Phe)
c.699A>T (p.Leu233Phe)
1g.99870485_99870491delinsAGACAGACA1149042026AGLc.750_756delinsAGACAGA (p.Leu250=)
n.961_967delinsAGACAGA
c.702_708delinsAGACAGA (p.Leu234=)
c.699_705delinsAGACAGA (p.Leu233=)
1g.99870488_99870491delCA966256AGLc.753_756del (p.Asp251GlufsTer23)
n.964_967del
c.705_708del (p.Asp235GlufsTer23)
c.702_705del (p.Asp234GlufsTer23)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99870486G>ACA341339759AGLc.751G>A (p.Asp251Asn)
n.962G>A
c.703G>A (p.Asp235Asn)
c.700G>A (p.Asp234Asn)
1g.99870486G>CCA341339762AGLc.751G>C (p.Asp251His)
n.962G>C
c.703G>C (p.Asp235His)
c.700G>C (p.Asp234His)
1g.99870486G>TCA341339765AGLc.751G>T (p.Asp251Tyr)
n.962G>T
c.703G>T (p.Asp235Tyr)
c.700G>T (p.Asp234Tyr)
1g.99870487A=CA1183923098AGLc.752A= (p.Asp251=)
n.963A=
c.704A= (p.Asp235=)
c.701A= (p.Asp234=)
1g.99870487A>CCA341339769AGLc.752A>C (p.Asp251Ala)
n.963A>C
c.704A>C (p.Asp235Ala)
c.701A>C (p.Asp234Ala)
 dbSNP gnomAD v2
1g.99870487A>GCA341339772AGLc.752A>G (p.Asp251Gly)
n.963A>G
c.704A>G (p.Asp235Gly)
c.701A>G (p.Asp234Gly)
1g.99870487A>TCA341339774AGLc.752A>T (p.Asp251Val)
n.963A>T
c.704A>T (p.Asp235Val)
c.701A>T (p.Asp234Val)
1g.99870488C>ACA341339779AGLc.753C>A (p.Asp251Glu)
n.964C>A
c.705C>A (p.Asp235Glu)
c.702C>A (p.Asp234Glu)
1g.99870488C=CA1183923103AGLc.753C= (p.Asp251=)
n.964C=
c.705C= (p.Asp235=)
c.702C= (p.Asp234=)
1g.99870488C>GCA341339783AGLc.753C>G (p.Asp251Glu)
n.964C>G
c.705C>G (p.Asp235Glu)
c.702C>G (p.Asp234Glu)
1g.99870488C>TCA27568700AGLc.753C>T (p.Asp251=)
n.964C>T
c.705C>T (p.Asp235=)
c.702C>T (p.Asp234=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.99870488_99870490delinsCAGCA1183923101AGLc.753_755delinsCAG (p.Asp251=)
n.964_966delinsCAG
c.705_707delinsCAG (p.Asp235=)
c.702_704delinsCAG (p.Asp234=)
1g.99870488_99870497delinsCAGAGCACTTCA1183923106AGLc.753_762delinsCAGAGCACTT (p.Asp251=)
n.964_973delinsCAGAGCACTT
c.705_714delinsCAGAGCACTT (p.Asp235=)
c.702_711delinsCAGAGCACTT (p.Asp234=)
1g.99870489A=CA1143953119AGLc.754A= (p.Arg252=)
n.965A=
c.706A= (p.Arg236=)
c.703A= (p.Arg235=)
1g.99870489A>CCA419096429AGLc.754A>C (p.Arg252=)
n.965A>C
c.706A>C (p.Arg236=)
c.703A>C (p.Arg235=)
1g.99870489A>GCA966258AGLc.754A>G (p.Arg252Gly)
n.965A>G
c.706A>G (p.Arg236Gly)
c.703A>G (p.Arg235Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99870489A>TCA341339789AGLc.754A>T (p.Arg252Ter)
n.965A>T
c.706A>T (p.Arg236Ter)
c.703A>T (p.Arg235Ter)
1g.99870491_99870492delCA966257AGLc.756_757del (p.Arg252SerfsTer8)
n.967_968del
c.708_709del (p.Arg236SerfsTer8)
c.705_706del (p.Arg235SerfsTer8)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.99870489_99870497delCA1183923122AGLc.754_762del (p.Arg252_Leu254del)
n.965_973del
c.706_714del (p.Arg236_Leu238del)
c.703_711del (p.Arg235_Leu237del)
 dbSNP
1g.99870490G>ACA341339800AGLc.755G>A (p.Arg252Lys)
n.966G>A
c.707G>A (p.Arg236Lys)
c.704G>A (p.Arg235Lys)
 gnomAD v4
1g.99870490G>CCA341339803AGLc.755G>C (p.Arg252Thr)
n.966G>C
c.707G>C (p.Arg236Thr)
c.704G>C (p.Arg235Thr)
1g.99870490G=CA1183923125AGLc.755G= (p.Arg252=)
n.966G=
c.707G= (p.Arg236=)
c.704G= (p.Arg235=)
1g.99870490G>TCA966259AGLc.755G>T (p.Arg252Ile)
n.966G>T
c.707G>T (p.Arg236Ile)
c.704G>T (p.Arg235Ile)
 dbSNP ExAC gnomAD v2
1g.99870491A>CCA341339805AGLc.756A>C (p.Arg252Ser)
n.967A>C
c.708A>C (p.Arg236Ser)
c.705A>C (p.Arg235Ser)
1g.99870491A>GCA419096430AGLc.756A>G (p.Arg252=)
n.967A>G
c.708A>G (p.Arg236=)
c.705A>G (p.Arg235=)
1g.99870491A>TCA341339808AGLc.756A>T (p.Arg252Ser)
n.967A>T
c.708A>T (p.Arg236Ser)
c.705A>T (p.Arg235Ser)
1g.99870492G>ACA341339810AGLc.757G>A (p.Ala253Thr)
n.968G>A
c.709G>A (p.Ala237Thr)
c.706G>A (p.Ala236Thr)
 gnomAD v4
1g.99870492G>CCA966260AGLc.757G>C (p.Ala253Pro)
n.968G>C
c.709G>C (p.Ala237Pro)
c.706G>C (p.Ala236Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.99870492G=CA1148230546AGLc.757G= (p.Ala253=)
n.968G=
c.709G= (p.Ala237=)
c.706G= (p.Ala236=)
1g.99870492G>TCA341339812AGLc.757G>T (p.Ala253Ser)
n.968G>T
c.709G>T (p.Ala237Ser)
c.706G>T (p.Ala236Ser)
 ClinVar dbSNP gnomAD v4
1g.99870493C>ACA341339814AGLc.758C>A (p.Ala253Glu)
n.969C>A
c.710C>A (p.Ala237Glu)
c.707C>A (p.Ala236Glu)
1g.99870493C=CA1183923129AGLc.758C= (p.Ala253=)
n.969C=
c.710C= (p.Ala237=)
c.707C= (p.Ala236=)
1g.99870493C>GCA341339817AGLc.758C>G (p.Ala253Gly)
n.969C>G
c.710C>G (p.Ala237Gly)
c.707C>G (p.Ala236Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.99870493C>TCA341339819AGLc.758C>T (p.Ala253Val)
n.969C>T
c.710C>T (p.Ala237Val)
c.707C>T (p.Ala236Val)
 dbSNP
1g.99870494A=CA1183923134AGLc.759A= (p.Ala253=)
n.970A=
c.711A= (p.Ala237=)
c.708A= (p.Ala236=)
1g.99870494A>CCA419096432AGLc.759A>C (p.Ala253=)
n.970A>C
c.711A>C (p.Ala237=)
c.708A>C (p.Ala236=)
 dbSNP gnomAD v4
1g.99870494A>GCA966261AGLc.759A>G (p.Ala253=)
n.970A>G
c.711A>G (p.Ala237=)
c.708A>G (p.Ala236=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.99870494A>TCA419096431AGLc.759A>T (p.Ala253=)
n.970A>T
c.711A>T (p.Ala237=)
c.708A>T (p.Ala236=)
1g.99870495C>ACA341339821AGLc.760C>A (p.Leu254Ile)
n.971C>A
c.712C>A (p.Leu238Ile)
c.709C>A (p.Leu237Ile)
1g.99870495C>GCA341339823AGLc.760C>G (p.Leu254Val)
n.971C>G
c.712C>G (p.Leu238Val)
c.709C>G (p.Leu237Val)
1g.99870495C>TCA341339825AGLc.760C>T (p.Leu254Phe)
n.971C>T
c.712C>T (p.Leu238Phe)
c.709C>T (p.Leu237Phe)
1g.99870496T>ACA341339828AGLc.761T>A (p.Leu254His)
n.972T>A
c.713T>A (p.Leu238His)
c.710T>A (p.Leu237His)
1g.99870496T>CCA341339830AGLc.761T>C (p.Leu254Pro)
n.972T>C
c.713T>C (p.Leu238Pro)
c.710T>C (p.Leu237Pro)
1g.99870496T>GCA341339832AGLc.761T>G (p.Leu254Arg)
n.972T>G
c.713T>G (p.Leu238Arg)
c.710T>G (p.Leu237Arg)
1g.99870496_99870497insAAACA2744755505AGLc.761_762insAAA (p.Leu254_Trp255insAsn)
n.972_973insAAA
c.713_714insAAA (p.Leu238_Trp239insAsn)
c.710_711insAAA (p.Leu237_Trp238insAsn)
1g.99870497T>ACA419096433AGLc.762T>A (p.Leu254=)
n.973T>A
c.714T>A (p.Leu238=)
c.711T>A (p.Leu237=)
1g.99870497T>CCA966262AGLc.762T>C (p.Leu254=)
n.973T>C
c.714T>C (p.Leu238=)
c.711T>C (p.Leu237=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.99870497T>GCA419096434AGLc.762T>G (p.Leu254=)
n.973T>G
c.714T>G (p.Leu238=)
c.711T>G (p.Leu237=)
1g.99870497T=CA1183923140AGLc.762T= (p.Leu254=)
n.973T=
c.714T= (p.Leu238=)
c.711T= (p.Leu237=)
1g.99870498T>ACA341339838AGLc.763T>A (p.Trp255Arg)
n.974T>A
c.715T>A (p.Trp239Arg)
c.712T>A (p.Trp238Arg)
1g.99870498T>CCA966263AGLc.763T>C (p.Trp255Arg)
n.974T>C
c.715T>C (p.Trp239Arg)
c.712T>C (p.Trp238Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99870498T>GCA341339842AGLc.763T>G (p.Trp255Gly)
n.974T>G
c.715T>G (p.Trp239Gly)
c.712T>G (p.Trp238Gly)
 gnomAD v4
1g.99870498T=CA1183923143AGLc.763T= (p.Trp255=)
n.974T=
c.715T= (p.Trp239=)
c.712T= (p.Trp238=)
1g.99870499G>ACA341339845AGLc.764G>A (p.Trp255Ter)
n.975G>A
c.716G>A (p.Trp239Ter)
c.713G>A (p.Trp238Ter)
1g.99870499G>CCA341339847AGLc.764G>C (p.Trp255Ser)
n.975G>C
c.716G>C (p.Trp239Ser)
c.713G>C (p.Trp238Ser)
1g.99870499G>TCA341339848AGLc.764G>T (p.Trp255Leu)
n.975G>T
c.716G>T (p.Trp239Leu)
c.713G>T (p.Trp238Leu)
1g.99870500G>ACA341339852AGLc.765G>A (p.Trp255Ter)
n.976G>A
c.717G>A (p.Trp239Ter)
c.714G>A (p.Trp238Ter)
1g.99870500G>CCA341339854AGLc.765G>C (p.Trp255Cys)
n.976G>C
c.717G>C (p.Trp239Cys)
c.714G>C (p.Trp238Cys)
1g.99870500G=CA1183923145AGLc.765G= (p.Trp255=)
n.976G=
c.717G= (p.Trp239=)
c.714G= (p.Trp238=)
1g.99870500G>TCA341339856AGLc.765G>T (p.Trp255Cys)
n.976G>T
c.717G>T (p.Trp239Cys)
c.714G>T (p.Trp238Cys)
 dbSNP
1g.99870500_99870505delCA2744755506AGLc.765_770del (p.Trp255_Phe257delinsCys)
n.976_981del
c.717_722del (p.Trp239_Phe241delinsCys)
c.714_719del (p.Trp238_Phe240delinsCys)
1g.99870501C>ACA341339858AGLc.766C>A (p.Arg256Ser)
n.977C>A
c.718C>A (p.Arg240Ser)
c.715C>A (p.Arg239Ser)
1g.99870501C=CA1183923149AGLc.766C= (p.Arg256=)
n.977C=
c.718C= (p.Arg240=)
c.715C= (p.Arg239=)
1g.99870501C>GCA341339861AGLc.766C>G (p.Arg256Gly)
n.977C>G
c.718C>G (p.Arg240Gly)
c.715C>G (p.Arg239Gly)
 gnomAD v4
1g.99870501C>TCA966264AGLc.766C>T (p.Arg256Cys)
n.977C>T
c.718C>T (p.Arg240Cys)
c.715C>T (p.Arg239Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.99870502G>ACA966265AGLc.767G>A (p.Arg256His)
n.978G>A
c.719G>A (p.Arg240His)
c.716G>A (p.Arg239His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99870502G>CCA341339866AGLc.767G>C (p.Arg256Pro)
n.978G>C
c.719G>C (p.Arg240Pro)
c.716G>C (p.Arg239Pro)
1g.99870502G=CA1143400881AGLc.767G= (p.Arg256=)
n.978G=
c.719G= (p.Arg240=)
c.716G= (p.Arg239=)
1g.99870502G>TCA341339864AGLc.767G>T (p.Arg256Leu)
n.978G>T
c.719G>T (p.Arg240Leu)
c.716G>T (p.Arg239Leu)
 COSMIC
1g.99870503T>ACA419096435AGLc.768T>A (p.Arg256=)
n.979T>A
c.720T>A (p.Arg240=)
c.717T>A (p.Arg239=)
1g.99870503T>CCA419096436AGLc.768T>C (p.Arg256=)
n.979T>C
c.720T>C (p.Arg240=)
c.717T>C (p.Arg239=)
1g.99870503T>GCA419096437AGLc.768T>G (p.Arg256=)
n.979T>G
c.720T>G (p.Arg240=)
c.717T>G (p.Arg239=)
1g.99870505dupCA2586967081AGLc.770dup (p.Ser258LeufsTer3)
n.981dup
c.722dup (p.Ser242LeufsTer3)
c.719dup (p.Ser241LeufsTer3)
1g.99870504T>ACA341339870AGLc.769T>A (p.Phe257Ile)
n.980T>A
c.721T>A (p.Phe241Ile)
c.718T>A (p.Phe240Ile)
1g.99870504T>CCA341339871AGLc.769T>C (p.Phe257Leu)
n.980T>C
c.721T>C (p.Phe241Leu)
c.718T>C (p.Phe240Leu)
 gnomAD v4
1g.99870504T>GCA341339874AGLc.769T>G (p.Phe257Val)
n.980T>G
c.721T>G (p.Phe241Val)
c.718T>G (p.Phe240Val)
1g.99870505T>ACA341339878AGLc.770T>A (p.Phe257Tyr)
n.981T>A
c.722T>A (p.Phe241Tyr)
c.719T>A (p.Phe240Tyr)
1g.99870505T>CCA341339880AGLc.770T>C (p.Phe257Ser)
n.981T>C
c.722T>C (p.Phe241Ser)
c.719T>C (p.Phe240Ser)
 dbSNP gnomAD v4
1g.99870505T>GCA341339882AGLc.770T>G (p.Phe257Cys)
n.981T>G
c.722T>G (p.Phe241Cys)
c.719T>G (p.Phe240Cys)
1g.99870505T=CA1183923163AGLc.770T= (p.Phe257=)
n.981T=
c.722T= (p.Phe241=)
c.719T= (p.Phe240=)
1g.99870506C>ACA341339886AGLc.771C>A (p.Phe257Leu)
n.982C>A
c.723C>A (p.Phe241Leu)
c.720C>A (p.Phe240Leu)
1g.99870506C=CA1183923166AGLc.771C= (p.Phe257=)
n.982C=
c.723C= (p.Phe241=)
c.720C= (p.Phe240=)
1g.99870506C>GCA27568743AGLc.771C>G (p.Phe257Leu)
n.982C>G
c.723C>G (p.Phe241Leu)
c.720C>G (p.Phe240Leu)
 ClinVar dbSNP gnomAD v4
1g.99870506C>TCA419096438AGLc.771C>T (p.Phe257=)
n.982C>T
c.723C>T (p.Phe241=)
c.720C>T (p.Phe240=)
1g.99870507T>ACA341339890AGLc.772T>A (p.Ser258Thr)
n.983T>A
c.724T>A (p.Ser242Thr)
c.721T>A (p.Ser241Thr)
1g.99870507T>CCA10588921AGLc.772T>C (p.Ser258Pro)
n.983T>C
c.724T>C (p.Ser242Pro)
c.721T>C (p.Ser241Pro)
 ClinVar dbSNP
1g.99870507T>GCA341339891AGLc.772T>G (p.Ser258Ala)
n.983T>G
c.724T>G (p.Ser242Ala)
c.721T>G (p.Ser241Ala)
1g.99870507T=CA1183923168AGLc.772T= (p.Ser258=)
n.983T=
c.724T= (p.Ser242=)
c.721T= (p.Ser241=)
1g.99870508C>ACA341339894AGLc.773C>A (p.Ser258Tyr)
n.984C>A
c.725C>A (p.Ser242Tyr)
c.722C>A (p.Ser241Tyr)
1g.99870508C>GCA341339896AGLc.773C>G (p.Ser258Cys)
n.984C>G
c.725C>G (p.Ser242Cys)
c.722C>G (p.Ser241Cys)
1g.99870508C>TCA341339899AGLc.773C>T (p.Ser258Phe)
n.984C>T
c.725C>T (p.Ser242Phe)
c.722C>T (p.Ser241Phe)
 gnomAD v4
1g.99870509C>ACA419096439AGLc.774C>A (p.Ser258=)
n.985C>A
c.726C>A (p.Ser242=)
c.723C>A (p.Ser241=)
1g.99870509C>GCA419096440AGLc.774C>G (p.Ser258=)
n.985C>G
c.726C>G (p.Ser242=)
c.723C>G (p.Ser241=)
1g.99870509C>TCA419096441AGLc.774C>T (p.Ser258=)
n.985C>T
c.726C>T (p.Ser242=)
c.723C>T (p.Ser241=)
 gnomAD v4
1g.99870509_99870513delCA2744755507AGLc.774_778del (p.Asp260CysfsTer15)
n.985_989del
c.726_730del (p.Asp244CysfsTer15)
c.723_727del (p.Asp243CysfsTer15)
1g.99870510T>ACA341339903AGLc.775T>A (p.Cys259Ser)
n.986T>A
c.727T>A (p.Cys243Ser)
c.724T>A (p.Cys242Ser)
1g.99870510T>CCA27568771AGLc.775T>C (p.Cys259Arg)
n.986T>C
c.727T>C (p.Cys243Arg)
c.724T>C (p.Cys242Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.99870510T>GCA341339905AGLc.775T>G (p.Cys259Gly)
n.986T>G
c.727T>G (p.Cys243Gly)
c.724T>G (p.Cys242Gly)
1g.99870510T=CA1183923176AGLc.775T= (p.Cys259=)
n.986T=
c.727T= (p.Cys243=)
c.724T= (p.Cys242=)
1g.99870511G>ACA341339910AGLc.776G>A (p.Cys259Tyr)
n.987G>A
c.728G>A (p.Cys243Tyr)
c.725G>A (p.Cys242Tyr)
1g.99870511G>CCA341339912AGLc.776G>C (p.Cys259Ser)
n.987G>C
c.728G>C (p.Cys243Ser)
c.725G>C (p.Cys242Ser)
 dbSNP gnomAD v2 gnomAD v4
1g.99870511G=CA1183923181AGLc.776G= (p.Cys259=)
n.987G=
c.728G= (p.Cys243=)
c.725G= (p.Cys242=)
1g.99870511G>TCA341339915AGLc.776G>T (p.Cys259Phe)
n.987G>T
c.728G>T (p.Cys243Phe)
c.725G>T (p.Cys242Phe)

Number of alleles fetched