Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.43731698A>CCA413007406MAOAc.401A>C (p.Lys134Thr)
c.110A>C (p.Lys37Thr)
n.932A>C
n.356A>C
c.695A>C (p.Lys232Thr)
c.800A>C (p.Lys267Thr)
Xg.43731698A>GCA413007410MAOAc.401A>G (p.Lys134Arg)
c.110A>G (p.Lys37Arg)
n.932A>G
n.356A>G
c.695A>G (p.Lys232Arg)
c.800A>G (p.Lys267Arg)
Xg.43731698A>TCA413007408MAOAc.401A>T (p.Lys134Ile)
c.110A>T (p.Lys37Ile)
n.932A>T
n.356A>T
c.695A>T (p.Lys232Ile)
c.800A>T (p.Lys267Ile)
Xg.43731699A>CCA413007412MAOAc.402A>C (p.Lys134Asn)
c.111A>C (p.Lys37Asn)
n.933A>C
n.357A>C
c.696A>C (p.Lys232Asn)
c.801A>C (p.Lys267Asn)
Xg.43731699A>GCA516138080MAOAc.402A>G (p.Lys134=)
c.111A>G (p.Lys37=)
n.933A>G
n.357A>G
c.696A>G (p.Lys232=)
c.801A>G (p.Lys267=)
Xg.43731699A>TCA413007414MAOAc.402A>T (p.Lys134Asn)
c.111A>T (p.Lys37Asn)
n.933A>T
n.357A>T
c.696A>T (p.Lys232Asn)
c.801A>T (p.Lys267Asn)
Xg.43731700T>ACA413007417MAOAc.403T>A (p.Tyr135Asn)
c.112T>A (p.Tyr38Asn)
n.934T>A
n.358T>A
c.697T>A (p.Tyr233Asn)
c.802T>A (p.Tyr268Asn)
Xg.43731700T>CCA413007419MAOAc.403T>C (p.Tyr135His)
c.112T>C (p.Tyr38His)
n.934T>C
n.358T>C
c.697T>C (p.Tyr233His)
c.802T>C (p.Tyr268His)
Xg.43731700T>GCA413007421MAOAc.403T>G (p.Tyr135Asp)
c.112T>G (p.Tyr38Asp)
n.934T>G
n.358T>G
c.697T>G (p.Tyr233Asp)
c.802T>G (p.Tyr268Asp)
Xg.43731701A>CCA413007425MAOAc.404A>C (p.Tyr135Ser)
c.113A>C (p.Tyr38Ser)
n.935A>C
n.359A>C
c.698A>C (p.Tyr233Ser)
c.803A>C (p.Tyr268Ser)
Xg.43731701A>GCA413007427MAOAc.404A>G (p.Tyr135Cys)
c.113A>G (p.Tyr38Cys)
n.935A>G
n.359A>G
c.698A>G (p.Tyr233Cys)
c.803A>G (p.Tyr268Cys)
Xg.43731701A>TCA413007428MAOAc.404A>T (p.Tyr135Phe)
c.113A>T (p.Tyr38Phe)
n.935A>T
n.359A>T
c.698A>T (p.Tyr233Phe)
c.803A>T (p.Tyr268Phe)
Xg.43731702C>ACA413007432MAOAc.405C>A (p.Tyr135Ter)
c.114C>A (p.Tyr38Ter)
n.936C>A
n.360C>A
c.699C>A (p.Tyr233Ter)
c.804C>A (p.Tyr268Ter)
Xg.43731702C=CA2426670050MAOAc.405C= (p.Tyr135=)
c.114C= (p.Tyr38=)
n.936C=
n.360C=
c.699C= (p.Tyr233=)
c.804C= (p.Tyr268=)
Xg.43731702C>GCA413007434MAOAc.405C>G (p.Tyr135Ter)
c.114C>G (p.Tyr38Ter)
n.936C>G
n.360C>G
c.699C>G (p.Tyr233Ter)
c.804C>G (p.Tyr268Ter)
Xg.43731702C>TCA10390843MAOAc.405C>T (p.Tyr135=)
c.114C>T (p.Tyr38=)
n.936C>T
n.360C>T
c.699C>T (p.Tyr233=)
c.804C>T (p.Tyr268=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.43731703G>ACA329466102MAOAc.406G>A (p.Val136Ile)
c.115G>A (p.Val39Ile)
n.937G>A
n.361G>A
c.700G>A (p.Val234Ile)
c.805G>A (p.Val269Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.43731703G>CCA10390844MAOAc.406G>C (p.Val136Leu)
c.115G>C (p.Val39Leu)
n.937G>C
n.361G>C
c.700G>C (p.Val234Leu)
c.805G>C (p.Val269Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.43731703G=CA2426670051MAOAc.406G= (p.Val136=)
c.115G= (p.Val39=)
n.937G=
n.361G=
c.700G= (p.Val234=)
c.805G= (p.Val269=)
Xg.43731703G>TCA413007440MAOAc.406G>T (p.Val136Leu)
c.115G>T (p.Val39Leu)
n.937G>T
n.361G>T
c.700G>T (p.Val234Leu)
c.805G>T (p.Val269Leu)
Xg.43731704T>ACA413007443MAOAc.407T>A (p.Val136Glu)
c.116T>A (p.Val39Glu)
n.938T>A
n.362T>A
c.701T>A (p.Val234Glu)
c.806T>A (p.Val269Glu)
Xg.43731704T>CCA413007445MAOAc.407T>C (p.Val136Ala)
c.116T>C (p.Val39Ala)
n.938T>C
n.362T>C
c.701T>C (p.Val234Ala)
c.806T>C (p.Val269Ala)
Xg.43731704T>GCA413007447MAOAc.407T>G (p.Val136Gly)
c.116T>G (p.Val39Gly)
n.938T>G
n.362T>G
c.701T>G (p.Val234Gly)
c.806T>G (p.Val269Gly)
Xg.43731705A=CA2426670052MAOAc.408A= (p.Val136=)
c.117A= (p.Val39=)
n.939A=
n.363A=
c.702A= (p.Val234=)
c.807A= (p.Val269=)
Xg.43731705A>CCA516138081MAOAc.408A>C (p.Val136=)
c.117A>C (p.Val39=)
n.939A>C
n.363A>C
c.702A>C (p.Val234=)
c.807A>C (p.Val269=)
Xg.43731705A>GCA516138082MAOAc.408A>G (p.Val136=)
c.117A>G (p.Val39=)
n.939A>G
n.363A>G
c.702A>G (p.Val234=)
c.807A>G (p.Val269=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.43731705A>TCA516138083MAOAc.408A>T (p.Val136=)
c.117A>T (p.Val39=)
n.939A>T
n.363A>T
c.702A>T (p.Val234=)
c.807A>T (p.Val269=)
Xg.43731706A>CCA413007451MAOAc.409A>C (p.Ile137Leu)
c.118A>C (p.Ile40Leu)
n.940A>C
n.364A>C
c.703A>C (p.Ile235Leu)
c.808A>C (p.Ile270Leu)
Xg.43731706A>GCA413007452MAOAc.409A>G (p.Ile137Val)
c.118A>G (p.Ile40Val)
n.940A>G
n.364A>G
c.703A>G (p.Ile235Val)
c.808A>G (p.Ile270Val)
Xg.43731706A>TCA413007455MAOAc.409A>T (p.Ile137Phe)
c.118A>T (p.Ile40Phe)
n.940A>T
n.364A>T
c.703A>T (p.Ile235Phe)
c.808A>T (p.Ile270Phe)
Xg.43731707T>ACA413007457MAOAc.410T>A (p.Ile137Asn)
c.119T>A (p.Ile40Asn)
n.941T>A
n.365T>A
c.704T>A (p.Ile235Asn)
c.809T>A (p.Ile270Asn)
Xg.43731707T>CCA413007459MAOAc.410T>C (p.Ile137Thr)
c.119T>C (p.Ile40Thr)
n.941T>C
n.365T>C
c.704T>C (p.Ile235Thr)
c.809T>C (p.Ile270Thr)
Xg.43731707T>GCA413007461MAOAc.410T>G (p.Ile137Ser)
c.119T>G (p.Ile40Ser)
n.941T>G
n.365T>G
c.704T>G (p.Ile235Ser)
c.809T>G (p.Ile270Ser)
Xg.43731708T>ACA516138084MAOAc.411T>A (p.Ile137=)
c.120T>A (p.Ile40=)
n.942T>A
n.366T>A
c.705T>A (p.Ile235=)
c.810T>A (p.Ile270=)
Xg.43731708T>CCA516138085MAOAc.411T>C (p.Ile137=)
c.120T>C (p.Ile40=)
n.942T>C
n.366T>C
c.705T>C (p.Ile235=)
c.810T>C (p.Ile270=)
Xg.43731708T>GCA413007464MAOAc.411T>G (p.Ile137Met)
c.120T>G (p.Ile40Met)
n.942T>G
n.366T>G
c.705T>G (p.Ile235Met)
c.810T>G (p.Ile270Met)
Xg.43731709A>CCA413007470MAOAc.412A>C (p.Asn138His)
c.121A>C (p.Asn41His)
n.943A>C
n.367A>C
c.706A>C (p.Asn236His)
c.811A>C (p.Asn271His)
Xg.43731709A>GCA413007472MAOAc.412A>G (p.Asn138Asp)
c.121A>G (p.Asn41Asp)
n.943A>G
n.367A>G
c.706A>G (p.Asn236Asp)
c.811A>G (p.Asn271Asp)
Xg.43731709A>TCA413007468MAOAc.412A>T (p.Asn138Tyr)
c.121A>T (p.Asn41Tyr)
n.943A>T
n.367A>T
c.706A>T (p.Asn236Tyr)
c.811A>T (p.Asn271Tyr)
Xg.43731710A>CCA413007474MAOAc.413A>C (p.Asn138Thr)
c.122A>C (p.Asn41Thr)
n.944A>C
n.368A>C
c.707A>C (p.Asn236Thr)
c.812A>C (p.Asn271Thr)
Xg.43731710A>GCA413007477MAOAc.413A>G (p.Asn138Ser)
c.122A>G (p.Asn41Ser)
n.944A>G
n.368A>G
c.707A>G (p.Asn236Ser)
c.812A>G (p.Asn271Ser)
 ClinVar dbSNP gnomAD v4
Xg.43731710A>TCA413007479MAOAc.413A>T (p.Asn138Ile)
c.122A>T (p.Asn41Ile)
n.944A>T
n.368A>T
c.707A>T (p.Asn236Ile)
c.812A>T (p.Asn271Ile)
Xg.43731711T>ACA413007481MAOAc.414T>A (p.Asn138Lys)
c.123T>A (p.Asn41Lys)
n.945T>A
n.369T>A
c.708T>A (p.Asn236Lys)
c.813T>A (p.Asn271Lys)
Xg.43731711T>CCA516138086MAOAc.414T>C (p.Asn138=)
c.123T>C (p.Asn41=)
n.945T>C
n.369T>C
c.708T>C (p.Asn236=)
c.813T>C (p.Asn271=)
Xg.43731711T>GCA413007483MAOAc.414T>G (p.Asn138Lys)
c.123T>G (p.Asn41Lys)
n.945T>G
n.369T>G
c.708T>G (p.Asn236Lys)
c.813T>G (p.Asn271Lys)
Xg.43731712G>ACA413007487MAOAc.415G>A (p.Ala139Thr)
c.124G>A (p.Ala42Thr)
n.946G>A
n.370G>A
c.709G>A (p.Ala237Thr)
c.814G>A (p.Ala272Thr)
Xg.43731712G>CCA413007489MAOAc.415G>C (p.Ala139Pro)
c.124G>C (p.Ala42Pro)
n.946G>C
n.370G>C
c.709G>C (p.Ala237Pro)
c.814G>C (p.Ala272Pro)
Xg.43731712G>TCA413007491MAOAc.415G>T (p.Ala139Ser)
c.124G>T (p.Ala42Ser)
n.946G>T
n.370G>T
c.709G>T (p.Ala237Ser)
c.814G>T (p.Ala272Ser)
Xg.43731713C>ACA413007494MAOAc.416C>A (p.Ala139Glu)
c.125C>A (p.Ala42Glu)
n.947C>A
n.371C>A
c.710C>A (p.Ala237Glu)
c.815C>A (p.Ala272Glu)
Xg.43731713C=CA2426670053MAOAc.416C= (p.Ala139=)
c.125C= (p.Ala42=)
n.947C=
n.371C=
c.710C= (p.Ala237=)
c.815C= (p.Ala272=)
Xg.43731713C>GCA413007496MAOAc.416C>G (p.Ala139Gly)
c.125C>G (p.Ala42Gly)
n.947C>G
n.371C>G
c.710C>G (p.Ala237Gly)
c.815C>G (p.Ala272Gly)
Xg.43731713C>TCA413007499MAOAc.416C>T (p.Ala139Val)
c.125C>T (p.Ala42Val)
n.947C>T
n.371C>T
c.710C>T (p.Ala237Val)
c.815C>T (p.Ala272Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.43731714G>ACA10390845MAOAc.417G>A (p.Ala139=)
c.126G>A (p.Ala42=)
n.948G>A
n.372G>A
c.711G>A (p.Ala237=)
c.816G>A (p.Ala272=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.43731714G>CCA516138088MAOAc.417G>C (p.Ala139=)
c.126G>C (p.Ala42=)
n.948G>C
n.372G>C
c.711G>C (p.Ala237=)
c.816G>C (p.Ala272=)
Xg.43731714G=CA2426670054MAOAc.417G= (p.Ala139=)
c.126G= (p.Ala42=)
n.948G=
n.372G=
c.711G= (p.Ala237=)
c.816G= (p.Ala272=)
Xg.43731714G>TCA516138087MAOAc.417G>T (p.Ala139=)
c.126G>T (p.Ala42=)
n.948G>T
n.372G>T
c.711G>T (p.Ala237=)
c.816G>T (p.Ala272=)
 gnomAD v4
Xg.43731715A>CCA413007506MAOAc.418A>C (p.Ile140Leu)
c.127A>C (p.Ile43Leu)
n.949A>C
n.373A>C
c.712A>C (p.Ile238Leu)
c.817A>C (p.Ile273Leu)
Xg.43731715A>GCA413007509MAOAc.418A>G (p.Ile140Val)
c.127A>G (p.Ile43Val)
n.949A>G
n.373A>G
c.712A>G (p.Ile238Val)
c.817A>G (p.Ile273Val)
Xg.43731715A>TCA413007504MAOAc.418A>T (p.Ile140Phe)
c.127A>T (p.Ile43Phe)
n.949A>T
n.373A>T
c.712A>T (p.Ile238Phe)
c.817A>T (p.Ile273Phe)
Xg.43731716T>ACA413007512MAOAc.419T>A (p.Ile140Asn)
c.128T>A (p.Ile43Asn)
n.950T>A
n.374T>A
c.713T>A (p.Ile238Asn)
c.818T>A (p.Ile273Asn)
Xg.43731716T>CCA413007514MAOAc.419T>C (p.Ile140Thr)
c.128T>C (p.Ile43Thr)
n.950T>C
n.374T>C
c.713T>C (p.Ile238Thr)
c.818T>C (p.Ile273Thr)
Xg.43731716T>GCA413007516MAOAc.419T>G (p.Ile140Ser)
c.128T>G (p.Ile43Ser)
n.950T>G
n.374T>G
c.713T>G (p.Ile238Ser)
c.818T>G (p.Ile273Ser)
Xg.43731717C>ACA516138089MAOAc.420C>A (p.Ile140=)
c.129C>A (p.Ile43=)
n.951C>A
n.375C>A
c.714C>A (p.Ile238=)
c.819C>A (p.Ile273=)
Xg.43731717C>GCA413007522MAOAc.420C>G (p.Ile140Met)
c.129C>G (p.Ile43Met)
n.951C>G
n.375C>G
c.714C>G (p.Ile238Met)
c.819C>G (p.Ile273Met)
Xg.43731717C>TCA516138090MAOAc.420C>T (p.Ile140=)
c.129C>T (p.Ile43=)
n.951C>T
n.375C>T
c.714C>T (p.Ile238=)
c.819C>T (p.Ile273=)
Xg.43731718C>ACA413007528MAOAc.421C>A (p.Pro141Thr)
c.130C>A (p.Pro44Thr)
n.952C>A
n.376C>A
c.715C>A (p.Pro239Thr)
c.820C>A (p.Pro274Thr)
Xg.43731718C>GCA413007527MAOAc.421C>G (p.Pro141Ala)
c.130C>G (p.Pro44Ala)
n.952C>G
n.376C>G
c.715C>G (p.Pro239Ala)
c.820C>G (p.Pro274Ala)
Xg.43731718C>TCA413007525MAOAc.421C>T (p.Pro141Ser)
c.130C>T (p.Pro44Ser)
n.952C>T
n.376C>T
c.715C>T (p.Pro239Ser)
c.820C>T (p.Pro274Ser)
Xg.43731719C>ACA413007531MAOAc.422C>A (p.Pro141His)
c.131C>A (p.Pro44His)
n.953C>A
n.377C>A
c.716C>A (p.Pro239His)
c.821C>A (p.Pro274His)
Xg.43731719C=CA2426670055MAOAc.422C= (p.Pro141=)
c.131C= (p.Pro44=)
n.953C=
n.377C=
c.716C= (p.Pro239=)
c.821C= (p.Pro274=)
Xg.43731719C>GCA413007533MAOAc.422C>G (p.Pro141Arg)
c.131C>G (p.Pro44Arg)
n.953C>G
n.377C>G
c.716C>G (p.Pro239Arg)
c.821C>G (p.Pro274Arg)
Xg.43731719C>TCA413007536MAOAc.422C>T (p.Pro141Leu)
c.131C>T (p.Pro44Leu)
n.953C>T
n.377C>T
c.716C>T (p.Pro239Leu)
c.821C>T (p.Pro274Leu)
 dbSNP
Xg.43731720T>ACA516138091MAOAc.423T>A (p.Pro141=)
c.132T>A (p.Pro44=)
n.954T>A
n.378T>A
c.717T>A (p.Pro239=)
c.822T>A (p.Pro274=)
Xg.43731720T>CCA516138092MAOAc.423T>C (p.Pro141=)
c.132T>C (p.Pro44=)
n.954T>C
n.378T>C
c.717T>C (p.Pro239=)
c.822T>C (p.Pro274=)
Xg.43731720T>GCA516138093MAOAc.423T>G (p.Pro141=)
c.132T>G (p.Pro44=)
n.954T>G
n.378T>G
c.717T>G (p.Pro239=)
c.822T>G (p.Pro274=)
Xg.43731721C>ACA413007539MAOAc.424C>A (p.Pro142Thr)
c.133C>A (p.Pro45Thr)
n.955C>A
n.379C>A
c.718C>A (p.Pro240Thr)
c.823C>A (p.Pro275Thr)
Xg.43731721C>GCA413007541MAOAc.424C>G (p.Pro142Ala)
c.133C>G (p.Pro45Ala)
n.955C>G
n.379C>G
c.718C>G (p.Pro240Ala)
c.823C>G (p.Pro275Ala)
Xg.43731721C>TCA413007543MAOAc.424C>T (p.Pro142Ser)
c.133C>T (p.Pro45Ser)
n.955C>T
n.379C>T
c.718C>T (p.Pro240Ser)
c.823C>T (p.Pro275Ser)
Xg.43731722C>ACA413007550MAOAc.425C>A (p.Pro142Gln)
c.134C>A (p.Pro45Gln)
n.956C>A
n.380C>A
c.719C>A (p.Pro240Gln)
c.824C>A (p.Pro275Gln)
Xg.43731722C=CA2426670056MAOAc.425C= (p.Pro142=)
c.134C= (p.Pro45=)
n.956C=
n.380C=
c.719C= (p.Pro240=)
c.824C= (p.Pro275=)
Xg.43731722C>GCA413007548MAOAc.425C>G (p.Pro142Arg)
c.134C>G (p.Pro45Arg)
n.956C>G
n.380C>G
c.719C>G (p.Pro240Arg)
c.824C>G (p.Pro275Arg)
Xg.43731722C>TCA10390846MAOAc.425C>T (p.Pro142Leu)
c.134C>T (p.Pro45Leu)
n.956C>T
n.380C>T
c.719C>T (p.Pro240Leu)
c.824C>T (p.Pro275Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.43731723G>ACA203561MAOAc.426G>A (p.Pro142=)
c.135G>A (p.Pro45=)
n.957G>A
n.381G>A
c.720G>A (p.Pro240=)
c.825G>A (p.Pro275=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.43731723G>CCA516138094MAOAc.426G>C (p.Pro142=)
c.135G>C (p.Pro45=)
n.957G>C
n.381G>C
c.720G>C (p.Pro240=)
c.825G>C (p.Pro275=)
Xg.43731723G=CA2426670057MAOAc.426G= (p.Pro142=)
c.135G= (p.Pro45=)
n.957G=
n.381G=
c.720G= (p.Pro240=)
c.825G= (p.Pro275=)
Xg.43731723G>TCA516138095MAOAc.426G>T (p.Pro142=)
c.135G>T (p.Pro45=)
n.957G>T
n.381G>T
c.720G>T (p.Pro240=)
c.825G>T (p.Pro275=)
 gnomAD v4
Xg.43731724A>CCA413007557MAOAc.427A>C (p.Thr143Pro)
c.136A>C (p.Thr46Pro)
n.958A>C
n.382A>C
c.721A>C (p.Thr241Pro)
c.826A>C (p.Thr276Pro)
Xg.43731724A>GCA413007554MAOAc.427A>G (p.Thr143Ala)
c.136A>G (p.Thr46Ala)
n.958A>G
n.382A>G
c.721A>G (p.Thr241Ala)
c.826A>G (p.Thr276Ala)
Xg.43731724A>TCA413007556MAOAc.427A>T (p.Thr143Ser)
c.136A>T (p.Thr46Ser)
n.958A>T
n.382A>T
c.721A>T (p.Thr241Ser)
c.826A>T (p.Thr276Ser)
Xg.43731725C>ACA413007559MAOAc.428C>A (p.Thr143Asn)
c.137C>A (p.Thr46Asn)
n.959C>A
n.383C>A
c.722C>A (p.Thr241Asn)
c.827C>A (p.Thr276Asn)
Xg.43731725C>GCA413007562MAOAc.428C>G (p.Thr143Ser)
c.137C>G (p.Thr46Ser)
n.959C>G
n.383C>G
c.722C>G (p.Thr241Ser)
c.827C>G (p.Thr276Ser)
Xg.43731725C>TCA413007564MAOAc.428C>T (p.Thr143Ile)
c.137C>T (p.Thr46Ile)
n.959C>T
n.383C>T
c.722C>T (p.Thr241Ile)
c.827C>T (p.Thr276Ile)
Xg.43731726C>ACA516138096MAOAc.429C>A (p.Thr143=)
c.138C>A (p.Thr46=)
n.960C>A
n.384C>A
c.723C>A (p.Thr241=)
c.828C>A (p.Thr276=)
 COSMIC
Xg.43731726C>GCA516138097MAOAc.429C>G (p.Thr143=)
c.138C>G (p.Thr46=)
n.960C>G
n.384C>G
c.723C>G (p.Thr241=)
c.828C>G (p.Thr276=)
Xg.43731726C>TCA516138098MAOAc.429C>T (p.Thr143=)
c.138C>T (p.Thr46=)
n.960C>T
n.384C>T
c.723C>T (p.Thr241=)
c.828C>T (p.Thr276=)
Xg.43731727T>ACA413007567MAOAc.430T>A (p.Leu144Met)
c.139T>A (p.Leu47Met)
n.961T>A
n.385T>A
c.724T>A (p.Leu242Met)
c.829T>A (p.Leu277Met)
Xg.43731727T>CCA516138099MAOAc.430T>C (p.Leu144=)
c.139T>C (p.Leu47=)
n.961T>C
n.385T>C
c.724T>C (p.Leu242=)
c.829T>C (p.Leu277=)
 gnomAD v4
Xg.43731727T>GCA413007569MAOAc.430T>G (p.Leu144Val)
c.139T>G (p.Leu47Val)
n.961T>G
n.385T>G
c.724T>G (p.Leu242Val)
c.829T>G (p.Leu277Val)
Xg.43731728T>ACA413007571MAOAc.431T>A (p.Leu144Ter)
c.140T>A (p.Leu47Ter)
n.962T>A
n.386T>A
c.725T>A (p.Leu242Ter)
c.830T>A (p.Leu277Ter)
Xg.43731728T>CCA10390847MAOAc.431T>C (p.Leu144Ser)
c.140T>C (p.Leu47Ser)
n.962T>C
n.386T>C
c.725T>C (p.Leu242Ser)
c.830T>C (p.Leu277Ser)
 dbSNP ExAC gnomAD v2
Xg.43731728T>GCA413007573MAOAc.431T>G (p.Leu144Trp)
c.140T>G (p.Leu47Trp)
n.962T>G
n.386T>G
c.725T>G (p.Leu242Trp)
c.830T>G (p.Leu277Trp)
Xg.43731728T=CA2426670058MAOAc.431T= (p.Leu144=)
c.140T= (p.Leu47=)
n.962T=
n.386T=
c.725T= (p.Leu242=)
c.830T= (p.Leu277=)
Xg.43731729G>ACA516138100MAOAc.432G>A (p.Leu144=)
c.141G>A (p.Leu47=)
n.963G>A
n.387G>A
c.726G>A (p.Leu242=)
c.831G>A (p.Leu277=)
 ClinVar
Xg.43731729G>CCA413007575MAOAc.432G>C (p.Leu144Phe)
c.141G>C (p.Leu47Phe)
n.963G>C
n.387G>C
c.726G>C (p.Leu242Phe)
c.831G>C (p.Leu277Phe)
Xg.43731729G>TCA413007577MAOAc.432G>T (p.Leu144Phe)
c.141G>T (p.Leu47Phe)
n.963G>T
n.387G>T
c.726G>T (p.Leu242Phe)
c.831G>T (p.Leu277Phe)
Xg.43731730A=CA2426670059MAOAc.433A= (p.Thr145=)
c.142A= (p.Thr48=)
n.964A=
n.388A=
c.727A= (p.Thr243=)
c.832A= (p.Thr278=)
Xg.43731730A>CCA413007584MAOAc.433A>C (p.Thr145Pro)
c.142A>C (p.Thr48Pro)
n.964A>C
n.388A>C
c.727A>C (p.Thr243Pro)
c.832A>C (p.Thr278Pro)
Xg.43731730A>GCA413007582MAOAc.433A>G (p.Thr145Ala)
c.142A>G (p.Thr48Ala)
n.964A>G
n.388A>G
c.727A>G (p.Thr243Ala)
c.832A>G (p.Thr278Ala)
 dbSNP
Xg.43731730A>TCA413007580MAOAc.433A>T (p.Thr145Ser)
c.142A>T (p.Thr48Ser)
n.964A>T
n.388A>T
c.727A>T (p.Thr243Ser)
c.832A>T (p.Thr278Ser)
Xg.43731731C>ACA413007585MAOAc.434C>A (p.Thr145Asn)
c.143C>A (p.Thr48Asn)
n.965C>A
n.389C>A
c.728C>A (p.Thr243Asn)
c.833C>A (p.Thr278Asn)
Xg.43731731C>GCA413007586MAOAc.434C>G (p.Thr145Ser)
c.143C>G (p.Thr48Ser)
n.965C>G
n.389C>G
c.728C>G (p.Thr243Ser)
c.833C>G (p.Thr278Ser)
Xg.43731731C>TCA413007587MAOAc.434C>T (p.Thr145Ile)
c.143C>T (p.Thr48Ile)
n.965C>T
n.389C>T
c.728C>T (p.Thr243Ile)
c.833C>T (p.Thr278Ile)
Xg.43731732T>ACA516138102MAOAc.435T>A (p.Thr145=)
c.144T>A (p.Thr48=)
n.966T>A
n.390T>A
c.729T>A (p.Thr243=)
c.834T>A (p.Thr278=)
Xg.43731732T>CCA516138103MAOAc.435T>C (p.Thr145=)
c.144T>C (p.Thr48=)
n.966T>C
n.390T>C
c.729T>C (p.Thr243=)
c.834T>C (p.Thr278=)
 gnomAD v4
Xg.43731732T>GCA516138101MAOAc.435T>G (p.Thr145=)
c.144T>G (p.Thr48=)
n.966T>G
n.390T>G
c.729T>G (p.Thr243=)
c.834T>G (p.Thr278=)
Xg.43731733G>ACA413007588MAOAc.436G>A (p.Ala146Thr)
c.145G>A (p.Ala49Thr)
n.967G>A
n.391G>A
c.730G>A (p.Ala244Thr)
c.835G>A (p.Ala279Thr)
Xg.43731733G>CCA413007590MAOAc.436G>C (p.Ala146Pro)
c.145G>C (p.Ala49Pro)
n.967G>C
n.391G>C
c.730G>C (p.Ala244Pro)
c.835G>C (p.Ala279Pro)
Xg.43731733G>TCA413007592MAOAc.436G>T (p.Ala146Ser)
c.145G>T (p.Ala49Ser)
n.967G>T
n.391G>T
c.730G>T (p.Ala244Ser)
c.835G>T (p.Ala279Ser)
Xg.43731734C>ACA10390848MAOAc.437C>A (p.Ala146Asp)
c.146C>A (p.Ala49Asp)
n.968C>A
n.392C>A
c.731C>A (p.Ala244Asp)
c.836C>A (p.Ala279Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.43731734C=CA2426670060MAOAc.437C= (p.Ala146=)
c.146C= (p.Ala49=)
n.968C=
n.392C=
c.731C= (p.Ala244=)
c.836C= (p.Ala279=)
Xg.43731734C>GCA413007594MAOAc.437C>G (p.Ala146Gly)
c.146C>G (p.Ala49Gly)
n.968C>G
n.392C>G
c.731C>G (p.Ala244Gly)
c.836C>G (p.Ala279Gly)
Xg.43731734C>TCA413007596MAOAc.437C>T (p.Ala146Val)
c.146C>T (p.Ala49Val)
n.968C>T
n.392C>T
c.731C>T (p.Ala244Val)
c.836C>T (p.Ala279Val)
Xg.43731735C>ACA516138104MAOAc.438C>A (p.Ala146=)
c.147C>A (p.Ala49=)
n.969C>A
n.393C>A
c.732C>A (p.Ala244=)
c.837C>A (p.Ala279=)
Xg.43731735C>GCA516138106MAOAc.438C>G (p.Ala146=)
c.147C>G (p.Ala49=)
n.969C>G
n.393C>G
c.732C>G (p.Ala244=)
c.837C>G (p.Ala279=)
Xg.43731735C>TCA516138105MAOAc.438C>T (p.Ala146=)
c.147C>T (p.Ala49=)
n.969C>T
n.393C>T
c.732C>T (p.Ala244=)
c.837C>T (p.Ala279=)
Xg.43731736A>CCA413007598MAOAc.439A>C (p.Lys147Gln)
c.148A>C (p.Lys50Gln)
n.970A>C
n.394A>C
c.733A>C (p.Lys245Gln)
c.838A>C (p.Lys280Gln)
Xg.43731736A>GCA413007600MAOAc.439A>G (p.Lys147Glu)
c.148A>G (p.Lys50Glu)
n.970A>G
n.394A>G
c.733A>G (p.Lys245Glu)
c.838A>G (p.Lys280Glu)
Xg.43731736A>TCA413007601MAOAc.439A>T (p.Lys147Ter)
c.148A>T (p.Lys50Ter)
n.970A>T
n.394A>T
c.733A>T (p.Lys245Ter)
c.838A>T (p.Lys280Ter)
Xg.43731737A>CCA413007604MAOAc.440A>C (p.Lys147Thr)
c.149A>C (p.Lys50Thr)
n.971A>C
n.395A>C
c.734A>C (p.Lys245Thr)
c.839A>C (p.Lys280Thr)
Xg.43731737A>GCA413007603MAOAc.440A>G (p.Lys147Arg)
c.149A>G (p.Lys50Arg)
n.971A>G
n.395A>G
c.734A>G (p.Lys245Arg)
c.839A>G (p.Lys280Arg)
Xg.43731737A>TCA413007602MAOAc.440A>T (p.Lys147Met)
c.149A>T (p.Lys50Met)
n.971A>T
n.395A>T
c.734A>T (p.Lys245Met)
c.839A>T (p.Lys280Met)
Xg.43731738G>ACA516138107MAOAc.441G>A (p.Lys147=)
c.150G>A (p.Lys50=)
n.972G>A
n.396G>A
c.735G>A (p.Lys245=)
c.840G>A (p.Lys280=)
Xg.43731738G>CCA413007605MAOAc.441G>C (p.Lys147Asn)
c.150G>C (p.Lys50Asn)
n.972G>C
n.396G>C
c.735G>C (p.Lys245Asn)
c.840G>C (p.Lys280Asn)
Xg.43731738G>TCA413007606MAOAc.441G>T (p.Lys147Asn)
c.150G>T (p.Lys50Asn)
n.972G>T
n.396G>T
c.735G>T (p.Lys245Asn)
c.840G>T (p.Lys280Asn)
Xg.43731739A>CCA413007607MAOAc.442A>C (p.Ile148Leu)
c.151A>C (p.Ile51Leu)
n.973A>C
n.397A>C
c.736A>C (p.Ile246Leu)
c.841A>C (p.Ile281Leu)
Xg.43731739A>GCA413007608MAOAc.442A>G (p.Ile148Val)
c.151A>G (p.Ile51Val)
n.973A>G
n.397A>G
c.736A>G (p.Ile246Val)
c.841A>G (p.Ile281Val)
 gnomAD v4
Xg.43731739A>TCA413007609MAOAc.442A>T (p.Ile148Phe)
c.151A>T (p.Ile51Phe)
n.973A>T
n.397A>T
c.736A>T (p.Ile246Phe)
c.841A>T (p.Ile281Phe)
Xg.43731740T>ACA413007610MAOAc.443T>A (p.Ile148Asn)
c.152T>A (p.Ile51Asn)
n.974T>A
n.398T>A
c.737T>A (p.Ile246Asn)
c.842T>A (p.Ile281Asn)
Xg.43731740T>CCA413007612MAOAc.443T>C (p.Ile148Thr)
c.152T>C (p.Ile51Thr)
n.974T>C
n.398T>C
c.737T>C (p.Ile246Thr)
c.842T>C (p.Ile281Thr)
Xg.43731740T>GCA413007614MAOAc.443T>G (p.Ile148Ser)
c.152T>G (p.Ile51Ser)
n.974T>G
n.398T>G
c.737T>G (p.Ile246Ser)
c.842T>G (p.Ile281Ser)
Xg.43731741T>ACA516138108MAOAc.444T>A (p.Ile148=)
c.153T>A (p.Ile51=)
n.975T>A
n.399T>A
c.738T>A (p.Ile246=)
c.843T>A (p.Ile281=)
Xg.43731741T>CCA516138109MAOAc.444T>C (p.Ile148=)
c.153T>C (p.Ile51=)
n.975T>C
n.399T>C
c.738T>C (p.Ile246=)
c.843T>C (p.Ile281=)
Xg.43731741T>GCA413007616MAOAc.444T>G (p.Ile148Met)
c.153T>G (p.Ile51Met)
n.975T>G
n.399T>G
c.738T>G (p.Ile246Met)
c.843T>G (p.Ile281Met)
Xg.43731742C>ACA413007618MAOAc.445C>A (p.His149Asn)
c.154C>A (p.His52Asn)
n.976C>A
n.400C>A
c.739C>A (p.His247Asn)
c.844C>A (p.His282Asn)
 dbSNP
Xg.43731742C=CA2426670061MAOAc.445C= (p.His149=)
c.154C= (p.His52=)
n.976C=
n.400C=
c.739C= (p.His247=)
c.844C= (p.His282=)
Xg.43731742C>GCA413007623MAOAc.445C>G (p.His149Asp)
c.154C>G (p.His52Asp)
n.976C>G
n.400C>G
c.739C>G (p.His247Asp)
c.844C>G (p.His282Asp)
Xg.43731742C>TCA413007625MAOAc.445C>T (p.His149Tyr)
c.154C>T (p.His52Tyr)
n.976C>T
n.400C>T
c.739C>T (p.His247Tyr)
c.844C>T (p.His282Tyr)
Xg.43731743A>CCA413007629MAOAc.446A>C (p.His149Pro)
c.155A>C (p.His52Pro)
n.977A>C
n.401A>C
c.740A>C (p.His247Pro)
c.845A>C (p.His282Pro)
Xg.43731743A>GCA413007627MAOAc.446A>G (p.His149Arg)
c.155A>G (p.His52Arg)
n.977A>G
n.401A>G
c.740A>G (p.His247Arg)
c.845A>G (p.His282Arg)
Xg.43731743A>TCA413007626MAOAc.446A>T (p.His149Leu)
c.155A>T (p.His52Leu)
n.977A>T
n.401A>T
c.740A>T (p.His247Leu)
c.845A>T (p.His282Leu)
Xg.43731744C>ACA413007631MAOAc.447C>A (p.His149Gln)
c.156C>A (p.His52Gln)
n.978C>A
n.402C>A
c.741C>A (p.His247Gln)
c.846C>A (p.His282Gln)
Xg.43731744C>GCA413007632MAOAc.447C>G (p.His149Gln)
c.156C>G (p.His52Gln)
n.978C>G
n.402C>G
c.741C>G (p.His247Gln)
c.846C>G (p.His282Gln)
Xg.43731744C>TCA516138110MAOAc.447C>T (p.His149=)
c.156C>T (p.His52=)
n.978C>T
n.402C>T
c.741C>T (p.His247=)
c.846C>T (p.His282=)
Xg.43731745T>ACA413007633MAOAc.448T>A (p.Phe150Ile)
c.157T>A (p.Phe53Ile)
n.979T>A
n.403T>A
c.742T>A (p.Phe248Ile)
c.847T>A (p.Phe283Ile)
Xg.43731745T>CCA413007634MAOAc.448T>C (p.Phe150Leu)
c.157T>C (p.Phe53Leu)
n.979T>C
n.403T>C
c.742T>C (p.Phe248Leu)
c.847T>C (p.Phe283Leu)
Xg.43731745T>GCA413007637MAOAc.448T>G (p.Phe150Val)
c.157T>G (p.Phe53Val)
n.979T>G
n.403T>G
c.742T>G (p.Phe248Val)
c.847T>G (p.Phe283Val)
Xg.43731746T>ACA413007640MAOAc.449T>A (p.Phe150Tyr)
c.158T>A (p.Phe53Tyr)
n.980T>A
n.404T>A
c.743T>A (p.Phe248Tyr)
c.848T>A (p.Phe283Tyr)
Xg.43731746T>CCA413007644MAOAc.449T>C (p.Phe150Ser)
c.158T>C (p.Phe53Ser)
n.980T>C
n.404T>C
c.743T>C (p.Phe248Ser)
c.848T>C (p.Phe283Ser)
Xg.43731746T>GCA413007646MAOAc.449T>G (p.Phe150Cys)
c.158T>G (p.Phe53Cys)
n.980T>G
n.404T>G
c.743T>G (p.Phe248Cys)
c.848T>G (p.Phe283Cys)
Xg.43731747C>ACA413007650MAOAc.450C>A (p.Phe150Leu)
c.159C>A (p.Phe53Leu)
n.981C>A
n.405C>A
c.744C>A (p.Phe248Leu)
c.849C>A (p.Phe283Leu)
Xg.43731747C>GCA413007651MAOAc.450C>G (p.Phe150Leu)
c.159C>G (p.Phe53Leu)
n.981C>G
n.405C>G
c.744C>G (p.Phe248Leu)
c.849C>G (p.Phe283Leu)
Xg.43731747C>TCA516138111MAOAc.450C>T (p.Phe150=)
c.159C>T (p.Phe53=)
n.981C>T
n.405C>T
c.744C>T (p.Phe248=)
c.849C>T (p.Phe283=)
Xg.43731748A>CCA516138112MAOAc.451A>C (p.Arg151=)
c.160A>C (p.Arg54=)
n.982A>C
n.406A>C
c.745A>C (p.Arg249=)
c.850A>C (p.Arg284=)
Xg.43731748A>GCA413007654MAOAc.451A>G (p.Arg151Gly)
c.160A>G (p.Arg54Gly)
n.982A>G
n.406A>G
c.745A>G (p.Arg249Gly)
c.850A>G (p.Arg284Gly)
Xg.43731748A>TCA413007656MAOAc.451A>T (p.Arg151Ter)
c.160A>T (p.Arg54Ter)
n.982A>T
n.406A>T
c.745A>T (p.Arg249Ter)
c.850A>T (p.Arg284Ter)
Xg.43731749G>ACA10390849MAOAc.452G>A (p.Arg151Lys)
c.161G>A (p.Arg54Lys)
n.983G>A
n.407G>A
c.746G>A (p.Arg249Lys)
c.851G>A (p.Arg284Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.43731749G>CCA413007659MAOAc.452G>C (p.Arg151Thr)
c.161G>C (p.Arg54Thr)
n.983G>C
n.407G>C
c.746G>C (p.Arg249Thr)
c.851G>C (p.Arg284Thr)
Xg.43731749G=CA2426670062MAOAc.452G= (p.Arg151=)
c.161G= (p.Arg54=)
n.983G=
n.407G=
c.746G= (p.Arg249=)
c.851G= (p.Arg284=)
Xg.43731749G>TCA413007658MAOAc.452G>T (p.Arg151Ile)
c.161G>T (p.Arg54Ile)
n.983G>T
n.407G>T
c.746G>T (p.Arg249Ile)
c.851G>T (p.Arg284Ile)
Xg.43731750A>CCA413007664MAOAc.453A>C (p.Arg151Ser)
c.162A>C (p.Arg54Ser)
n.984A>C
n.408A>C
c.747A>C (p.Arg249Ser)
c.852A>C (p.Arg284Ser)
Xg.43731750A>GCA516138113MAOAc.453A>G (p.Arg151=)
c.162A>G (p.Arg54=)
n.984A>G
n.408A>G
c.747A>G (p.Arg249=)
c.852A>G (p.Arg284=)
Xg.43731750A>TCA413007667MAOAc.453A>T (p.Arg151Ser)
c.162A>T (p.Arg54Ser)
n.984A>T
n.408A>T
c.747A>T (p.Arg249Ser)
c.852A>T (p.Arg284Ser)
Xg.43731751C>ACA413007670MAOAc.454C>A (p.Pro152Thr)
c.163C>A (p.Pro55Thr)
n.985C>A
n.409C>A
c.748C>A (p.Pro250Thr)
c.853C>A (p.Pro285Thr)
Xg.43731751C>GCA413007675MAOAc.454C>G (p.Pro152Ala)
c.163C>G (p.Pro55Ala)
n.985C>G
n.409C>G
c.748C>G (p.Pro250Ala)
c.853C>G (p.Pro285Ala)
Xg.43731751C>TCA413007673MAOAc.454C>T (p.Pro152Ser)
c.163C>T (p.Pro55Ser)
n.985C>T
n.409C>T
c.748C>T (p.Pro250Ser)
c.853C>T (p.Pro285Ser)
 COSMIC
Xg.43731752C>ACA413007678MAOAc.455C>A (p.Pro152Gln)
c.164C>A (p.Pro55Gln)
n.986C>A
n.410C>A
c.749C>A (p.Pro250Gln)
c.854C>A (p.Pro285Gln)
Xg.43731752C>GCA413007680MAOAc.455C>G (p.Pro152Arg)
c.164C>G (p.Pro55Arg)
n.986C>G
n.410C>G
c.749C>G (p.Pro250Arg)
c.854C>G (p.Pro285Arg)
Xg.43731752C>TCA413007684MAOAc.455C>T (p.Pro152Leu)
c.164C>T (p.Pro55Leu)
n.986C>T
n.410C>T
c.749C>T (p.Pro250Leu)
c.854C>T (p.Pro285Leu)
Xg.43731753A>CCA516138114MAOAc.456A>C (p.Pro152=)
c.165A>C (p.Pro55=)
n.987A>C
n.411A>C
c.750A>C (p.Pro250=)
c.855A>C (p.Pro285=)
Xg.43731753A>GCA516138115MAOAc.456A>G (p.Pro152=)
c.165A>G (p.Pro55=)
n.987A>G
n.411A>G
c.750A>G (p.Pro250=)
c.855A>G (p.Pro285=)
Xg.43731753A>TCA516138116MAOAc.456A>T (p.Pro152=)
c.165A>T (p.Pro55=)
n.987A>T
n.411A>T
c.750A>T (p.Pro250=)
c.855A>T (p.Pro285=)
Xg.43731755_43731756delCA2579589934MAOAc.458_459del (p.Glu153AlafsTer19)
c.167_168del (p.Glu56AlafsTer19)
n.989_990del
n.413_414del
c.752_753del (p.Glu251AlafsTer19)
c.857_858del (p.Glu286AlafsTer19)
Xg.43731754G>ACA413007687MAOAc.457G>A (p.Glu153Lys)
c.166G>A (p.Glu56Lys)
n.988G>A
n.412G>A
c.751G>A (p.Glu251Lys)
c.856G>A (p.Glu286Lys)
Xg.43731754G>CCA413007693MAOAc.457G>C (p.Glu153Gln)
c.166G>C (p.Glu56Gln)
n.988G>C
n.412G>C
c.751G>C (p.Glu251Gln)
c.856G>C (p.Glu286Gln)
Xg.43731754G>TCA413007696MAOAc.457G>T (p.Glu153Ter)
c.166G>T (p.Glu56Ter)
n.988G>T
n.412G>T
c.751G>T (p.Glu251Ter)
c.856G>T (p.Glu286Ter)
Xg.43731755A>CCA413007701MAOAc.458A>C (p.Glu153Ala)
c.167A>C (p.Glu56Ala)
n.989A>C
n.413A>C
c.752A>C (p.Glu251Ala)
c.857A>C (p.Glu286Ala)
Xg.43731755A>GCA413007704MAOAc.458A>G (p.Glu153Gly)
c.167A>G (p.Glu56Gly)
n.989A>G
n.413A>G
c.752A>G (p.Glu251Gly)
c.857A>G (p.Glu286Gly)
Xg.43731755A>TCA413007706MAOAc.458A>T (p.Glu153Val)
c.167A>T (p.Glu56Val)
n.989A>T
n.413A>T
c.752A>T (p.Glu251Val)
c.857A>T (p.Glu286Val)
Xg.43731756G>ACA516138117MAOAc.459G>A (p.Glu153=)
c.168G>A (p.Glu56=)
n.990G>A
n.414G>A
c.753G>A (p.Glu251=)
c.858G>A (p.Glu286=)
Xg.43731756G>CCA413007708MAOAc.459G>C (p.Glu153Asp)
c.168G>C (p.Glu56Asp)
n.990G>C
n.414G>C
c.753G>C (p.Glu251Asp)
c.858G>C (p.Glu286Asp)
Xg.43731756G>TCA413007710MAOAc.459G>T (p.Glu153Asp)
c.168G>T (p.Glu56Asp)
n.990G>T
n.414G>T
c.753G>T (p.Glu251Asp)
c.858G>T (p.Glu286Asp)
Xg.43731757C>ACA413007720MAOAc.460C>A (p.Leu154Ile)
c.169C>A (p.Leu57Ile)
n.991C>A
n.415C>A
c.754C>A (p.Leu252Ile)
c.859C>A (p.Leu287Ile)
Xg.43731757C>GCA413007717MAOAc.460C>G (p.Leu154Val)
c.169C>G (p.Leu57Val)
n.991C>G
n.415C>G
c.754C>G (p.Leu252Val)
c.859C>G (p.Leu287Val)
Xg.43731757C>TCA413007714MAOAc.460C>T (p.Leu154Phe)
c.169C>T (p.Leu57Phe)
n.991C>T
n.415C>T
c.754C>T (p.Leu252Phe)
c.859C>T (p.Leu287Phe)
 gnomAD v4
Xg.43731758T>ACA413007723MAOAc.461T>A (p.Leu154His)
c.170T>A (p.Leu57His)
n.992T>A
n.416T>A
c.755T>A (p.Leu252His)
c.860T>A (p.Leu287His)
 COSMIC
Xg.43731758T>CCA413007724MAOAc.461T>C (p.Leu154Pro)
c.170T>C (p.Leu57Pro)
n.992T>C
n.416T>C
c.755T>C (p.Leu252Pro)
c.860T>C (p.Leu287Pro)
Xg.43731758T>GCA413007725MAOAc.461T>G (p.Leu154Arg)
c.170T>G (p.Leu57Arg)
n.992T>G
n.416T>G
c.755T>G (p.Leu252Arg)
c.860T>G (p.Leu287Arg)
Xg.43731759T>ACA516138118MAOAc.462T>A (p.Leu154=)
c.171T>A (p.Leu57=)
n.993T>A
n.417T>A
c.756T>A (p.Leu252=)
c.861T>A (p.Leu287=)
Xg.43731759T>CCA516138119MAOAc.462T>C (p.Leu154=)
c.171T>C (p.Leu57=)
n.993T>C
n.417T>C
c.756T>C (p.Leu252=)
c.861T>C (p.Leu287=)
Xg.43731759T>GCA516138120MAOAc.462T>G (p.Leu154=)
c.171T>G (p.Leu57=)
n.993T>G
n.417T>G
c.756T>G (p.Leu252=)
c.861T>G (p.Leu287=)
Xg.43731760C>ACA413007729MAOAc.463C>A (p.Pro155Thr)
c.172C>A (p.Pro58Thr)
n.994C>A
n.418C>A
c.757C>A (p.Pro253Thr)
c.862C>A (p.Pro288Thr)
Xg.43731760C>GCA413007736MAOAc.463C>G (p.Pro155Ala)
c.172C>G (p.Pro58Ala)
n.994C>G
n.418C>G
c.757C>G (p.Pro253Ala)
c.862C>G (p.Pro288Ala)
Xg.43731760C>TCA413007743MAOAc.463C>T (p.Pro155Ser)
c.172C>T (p.Pro58Ser)
n.994C>T
n.418C>T
c.757C>T (p.Pro253Ser)
c.862C>T (p.Pro288Ser)
Xg.43731761C>ACA413007747MAOAc.464C>A (p.Pro155Gln)
c.173C>A (p.Pro58Gln)
n.995C>A
n.419C>A
c.758C>A (p.Pro253Gln)
c.863C>A (p.Pro288Gln)
Xg.43731761C>GCA413007751MAOAc.464C>G (p.Pro155Arg)
c.173C>G (p.Pro58Arg)
n.995C>G
n.419C>G
c.758C>G (p.Pro253Arg)
c.863C>G (p.Pro288Arg)
Xg.43731761C>TCA413007753MAOAc.464C>T (p.Pro155Leu)
c.173C>T (p.Pro58Leu)
n.995C>T
n.419C>T
c.758C>T (p.Pro253Leu)
c.863C>T (p.Pro288Leu)
Xg.43731762A>CCA516138121MAOAc.465A>C (p.Pro155=)
c.174A>C (p.Pro58=)
n.996A>C
n.420A>C
c.759A>C (p.Pro253=)
c.864A>C (p.Pro288=)
Xg.43731762A>GCA516138122MAOAc.465A>G (p.Pro155=)
c.174A>G (p.Pro58=)
n.996A>G
n.420A>G
c.759A>G (p.Pro253=)
c.864A>G (p.Pro288=)
Xg.43731762A>TCA516138123MAOAc.465A>T (p.Pro155=)
c.174A>T (p.Pro58=)
n.996A>T
n.420A>T
c.759A>T (p.Pro253=)
c.864A>T (p.Pro288=)
Xg.43731763G>ACA413007770MAOAc.466G>A (p.Ala156Thr)
c.175G>A (p.Ala59Thr)
n.997G>A
n.421G>A
c.760G>A (p.Ala254Thr)
c.865G>A (p.Ala289Thr)
 gnomAD v4
Xg.43731763G>CCA413007771MAOAc.466G>C (p.Ala156Pro)
c.175G>C (p.Ala59Pro)
n.997G>C
n.421G>C
c.760G>C (p.Ala254Pro)
c.865G>C (p.Ala289Pro)
Xg.43731763G>TCA413007777MAOAc.466G>T (p.Ala156Ser)
c.175G>T (p.Ala59Ser)
n.997G>T
n.421G>T
c.760G>T (p.Ala254Ser)
c.865G>T (p.Ala289Ser)
Xg.43731764C>ACA413007799MAOAc.467C>A (p.Ala156Glu)
c.176C>A (p.Ala59Glu)
n.998C>A
n.422C>A
c.761C>A (p.Ala254Glu)
c.866C>A (p.Ala289Glu)
Xg.43731764C>GCA413007798MAOAc.467C>G (p.Ala156Gly)
c.176C>G (p.Ala59Gly)
n.998C>G
n.422C>G
c.761C>G (p.Ala254Gly)
c.866C>G (p.Ala289Gly)
Xg.43731764C>TCA413007796MAOAc.467C>T (p.Ala156Val)
c.176C>T (p.Ala59Val)
n.998C>T
n.422C>T
c.761C>T (p.Ala254Val)
c.866C>T (p.Ala289Val)
Xg.43731765A=CA2426670063MAOAc.468A= (p.Ala156=)
c.177A= (p.Ala59=)
n.999A=
n.423A=
c.762A= (p.Ala254=)
c.867A= (p.Ala289=)
Xg.43731765A>CCA10390850MAOAc.468A>C (p.Ala156=)
c.177A>C (p.Ala59=)
n.999A>C
n.423A>C
c.762A>C (p.Ala254=)
c.867A>C (p.Ala289=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.43731765A>GCA516138125MAOAc.468A>G (p.Ala156=)
c.177A>G (p.Ala59=)
n.999A>G
n.423A>G
c.762A>G (p.Ala254=)
c.867A>G (p.Ala289=)
Xg.43731765A>TCA516138124MAOAc.468A>T (p.Ala156=)
c.177A>T (p.Ala59=)
n.999A>T
n.423A>T
c.762A>T (p.Ala254=)
c.867A>T (p.Ala289=)
Xg.43731766G>ACA413007802MAOAc.469G>A (p.Glu157Lys)
c.178G>A (p.Glu60Lys)
n.1000G>A
n.424G>A
c.763G>A (p.Glu255Lys)
c.868G>A (p.Glu290Lys)
Xg.43731766G>CCA413007804MAOAc.469G>C (p.Glu157Gln)
c.178G>C (p.Glu60Gln)
n.1000G>C
n.424G>C
c.763G>C (p.Glu255Gln)
c.868G>C (p.Glu290Gln)
Xg.43731766G>TCA413007808MAOAc.469G>T (p.Glu157Ter)
c.178G>T (p.Glu60Ter)
n.1000G>T
n.424G>T
c.763G>T (p.Glu255Ter)
c.868G>T (p.Glu290Ter)
Xg.43731767A>CCA413007813MAOAc.470A>C (p.Glu157Ala)
c.179A>C (p.Glu60Ala)
n.1001A>C
n.425A>C
c.764A>C (p.Glu255Ala)
c.869A>C (p.Glu290Ala)
Xg.43731767A>GCA413007816MAOAc.470A>G (p.Glu157Gly)
c.179A>G (p.Glu60Gly)
n.1001A>G
n.425A>G
c.764A>G (p.Glu255Gly)
c.869A>G (p.Glu290Gly)
Xg.43731767A>TCA413007820MAOAc.470A>T (p.Glu157Val)
c.179A>T (p.Glu60Val)
n.1001A>T
n.425A>T
c.764A>T (p.Glu255Val)
c.869A>T (p.Glu290Val)
Xg.43731768G>ACA516138126MAOAc.471G>A (p.Glu157=)
c.180G>A (p.Glu60=)
n.1002G>A
n.426G>A
c.765G>A (p.Glu255=)
c.870G>A (p.Glu290=)
Xg.43731768G>CCA413007823MAOAc.471G>C (p.Glu157Asp)
c.180G>C (p.Glu60Asp)
n.1002G>C
n.426G>C
c.765G>C (p.Glu255Asp)
c.870G>C (p.Glu290Asp)
Xg.43731768G>TCA413007826MAOAc.471G>T (p.Glu157Asp)
c.180G>T (p.Glu60Asp)
n.1002G>T
n.426G>T
c.765G>T (p.Glu255Asp)
c.870G>T (p.Glu290Asp)
Xg.43731769A>CCA516138127MAOAc.472A>C (p.Arg158=)
c.181A>C (p.Arg61=)
n.1003A>C
n.427A>C
c.766A>C (p.Arg256=)
c.871A>C (p.Arg291=)
 gnomAD v4
Xg.43731769A>GCA413007829MAOAc.472A>G (p.Arg158Gly)
c.181A>G (p.Arg61Gly)
n.1003A>G
n.427A>G
c.766A>G (p.Arg256Gly)
c.871A>G (p.Arg291Gly)
Xg.43731769A>TCA413007832MAOAc.472A>T (p.Arg158Ter)
c.181A>T (p.Arg61Ter)
n.1003A>T
n.427A>T
c.766A>T (p.Arg256Ter)
c.871A>T (p.Arg291Ter)
Xg.43731770G>ACA413007836MAOAc.473G>A (p.Arg158Lys)
c.182G>A (p.Arg61Lys)
n.1004G>A
n.428G>A
c.767G>A (p.Arg256Lys)
c.872G>A (p.Arg291Lys)
Xg.43731770G>CCA413007839MAOAc.473G>C (p.Arg158Thr)
c.182G>C (p.Arg61Thr)
n.1004G>C
n.428G>C
c.767G>C (p.Arg256Thr)
c.872G>C (p.Arg291Thr)
Xg.43731770G>TCA413007842MAOAc.473G>T (p.Arg158Ile)
c.182G>T (p.Arg61Ile)
n.1004G>T
n.428G>T
c.767G>T (p.Arg256Ile)
c.872G>T (p.Arg291Ile)
 COSMIC
Xg.43731771A>CCA413007856MAOAc.474A>C (p.Arg158Ser)
c.183A>C (p.Arg61Ser)
n.1005A>C
n.429A>C
c.768A>C (p.Arg256Ser)
c.873A>C (p.Arg291Ser)
Xg.43731771A>GCA516138128MAOAc.474A>G (p.Arg158=)
c.183A>G (p.Arg61=)
n.1005A>G
n.429A>G
c.768A>G (p.Arg256=)
c.873A>G (p.Arg291=)
Xg.43731771A>TCA413007859MAOAc.474A>T (p.Arg158Ser)
c.183A>T (p.Arg61Ser)
n.1005A>T
n.429A>T
c.768A>T (p.Arg256Ser)
c.873A>T (p.Arg291Ser)
Xg.43731772A>CCA413007862MAOAc.475A>C (p.Asn159His)
c.184A>C (p.Asn62His)
n.1006A>C
n.430A>C
c.769A>C (p.Asn257His)
c.874A>C (p.Asn292His)
Xg.43731772A>GCA413007865MAOAc.475A>G (p.Asn159Asp)
c.184A>G (p.Asn62Asp)
n.1006A>G
n.430A>G
c.769A>G (p.Asn257Asp)
c.874A>G (p.Asn292Asp)
Xg.43731772A>TCA413007867MAOAc.475A>T (p.Asn159Tyr)
c.184A>T (p.Asn62Tyr)
n.1006A>T
n.430A>T
c.769A>T (p.Asn257Tyr)
c.874A>T (p.Asn292Tyr)
Xg.43731773A=CA2426670064MAOAc.476A= (p.Asn159=)
c.185A= (p.Asn62=)
n.1007A=
n.431A=
c.770A= (p.Asn257=)
c.875A= (p.Asn292=)
Xg.43731773A>CCA413007871MAOAc.476A>C (p.Asn159Thr)
c.185A>C (p.Asn62Thr)
n.1007A>C
n.431A>C
c.770A>C (p.Asn257Thr)
c.875A>C (p.Asn292Thr)
Xg.43731773A>GCA413007874MAOAc.476A>G (p.Asn159Ser)
c.185A>G (p.Asn62Ser)
n.1007A>G
n.431A>G
c.770A>G (p.Asn257Ser)
c.875A>G (p.Asn292Ser)
 dbSNP gnomAD v2
Xg.43731773A>TCA413007877MAOAc.476A>T (p.Asn159Ile)
c.185A>T (p.Asn62Ile)
n.1007A>T
n.431A>T
c.770A>T (p.Asn257Ile)
c.875A>T (p.Asn292Ile)
Xg.43731774C>ACA413007879MAOAc.477C>A (p.Asn159Lys)
c.186C>A (p.Asn62Lys)
n.1008C>A
n.432C>A
c.771C>A (p.Asn257Lys)
c.876C>A (p.Asn292Lys)
 gnomAD v4
Xg.43731774C>GCA413007888MAOAc.477C>G (p.Asn159Lys)
c.186C>G (p.Asn62Lys)
n.1008C>G
n.432C>G
c.771C>G (p.Asn257Lys)
c.876C>G (p.Asn292Lys)
Xg.43731774C>TCA516138129MAOAc.477C>T (p.Asn159=)
c.186C>T (p.Asn62=)
n.1008C>T
n.432C>T
c.771C>T (p.Asn257=)
c.876C>T (p.Asn292=)
Xg.43731775delCA2693509033MAOAc.478del (p.Gln160SerfsTer2)
c.187del (p.Gln63SerfsTer2)
n.1009del
n.433del
c.772del (p.Gln258SerfsTer2)
c.877del (p.Gln293SerfsTer2)
 gnomAD v4
Xg.43731775C>ACA413007892MAOAc.478C>A (p.Gln160Lys)
c.187C>A (p.Gln63Lys)
n.1009C>A
n.433C>A
c.772C>A (p.Gln258Lys)
c.877C>A (p.Gln293Lys)
 gnomAD v4
Xg.43731775C>GCA413007895MAOAc.478C>G (p.Gln160Glu)
c.187C>G (p.Gln63Glu)
n.1009C>G
n.433C>G
c.772C>G (p.Gln258Glu)
c.877C>G (p.Gln293Glu)
Xg.43731775C>TCA413007899MAOAc.478C>T (p.Gln160Ter)
c.187C>T (p.Gln63Ter)
n.1009C>T
n.433C>T
c.772C>T (p.Gln258Ter)
c.877C>T (p.Gln293Ter)
Xg.43731776A>CCA413007916MAOAc.479A>C (p.Gln160Pro)
c.188A>C (p.Gln63Pro)
n.1010A>C
n.434A>C
c.773A>C (p.Gln258Pro)
c.878A>C (p.Gln293Pro)
Xg.43731776A>GCA413007908MAOAc.479A>G (p.Gln160Arg)
c.188A>G (p.Gln63Arg)
n.1010A>G
n.434A>G
c.773A>G (p.Gln258Arg)
c.878A>G (p.Gln293Arg)
Xg.43731776A>TCA413007904MAOAc.479A>T (p.Gln160Leu)
c.188A>T (p.Gln63Leu)
n.1010A>T
n.434A>T
c.773A>T (p.Gln258Leu)
c.878A>T (p.Gln293Leu)
Xg.43731777G>ACA516138130MAOAc.480G>A (p.Gln160=)
c.189G>A (p.Gln63=)
n.1011G>A
n.435G>A
c.774G>A (p.Gln258=)
c.879G>A (p.Gln293=)
Xg.43731777G>CCA413007919MAOAc.480G>C (p.Gln160His)
c.189G>C (p.Gln63His)
n.1011G>C
n.435G>C
c.774G>C (p.Gln258His)
c.879G>C (p.Gln293His)
Xg.43731777G>TCA413007927MAOAc.480G>T (p.Gln160His)
c.189G>T (p.Gln63His)
n.1011G>T
n.435G>T
c.774G>T (p.Gln258His)
c.879G>T (p.Gln293His)
Xg.43731778T>ACA413007931MAOAc.481T>A (p.Leu161Ile)
c.190T>A (p.Leu64Ile)
n.1012T>A
n.436T>A
c.775T>A (p.Leu259Ile)
c.880T>A (p.Leu294Ile)
Xg.43731778T>CCA516138131MAOAc.481T>C (p.Leu161=)
c.190T>C (p.Leu64=)
n.1012T>C
n.436T>C
c.775T>C (p.Leu259=)
c.880T>C (p.Leu294=)
Xg.43731778T>GCA413007934MAOAc.481T>G (p.Leu161Val)
c.190T>G (p.Leu64Val)
n.1012T>G
n.436T>G
c.775T>G (p.Leu259Val)
c.880T>G (p.Leu294Val)
Xg.43731779T>ACA413007935MAOAc.482T>A (p.Leu161Ter)
c.191T>A (p.Leu64Ter)
n.1013T>A
n.437T>A
c.776T>A (p.Leu259Ter)
c.881T>A (p.Leu294Ter)
Xg.43731779T>CCA413007936MAOAc.482T>C (p.Leu161Ser)
c.191T>C (p.Leu64Ser)
n.1013T>C
n.437T>C
c.776T>C (p.Leu259Ser)
c.881T>C (p.Leu294Ser)
Xg.43731779T>GCA413007937MAOAc.482T>G (p.Leu161Ter)
c.191T>G (p.Leu64Ter)
n.1013T>G
n.437T>G
c.776T>G (p.Leu259Ter)
c.881T>G (p.Leu294Ter)
 gnomAD v4
Xg.43731780A=CA2426669444MAOAc.483A= (p.Leu161=)
c.192A= (p.Leu64=)
n.1014A=
n.438A=
c.777A= (p.Leu259=)
c.882A= (p.Leu294=)
Xg.43731780A>CCA413007940MAOAc.483A>C (p.Leu161Phe)
c.192A>C (p.Leu64Phe)
n.1014A>C
n.438A>C
c.777A>C (p.Leu259Phe)
c.882A>C (p.Leu294Phe)
Xg.43731780A>GCA516138132MAOAc.483A>G (p.Leu161=)
c.192A>G (p.Leu64=)
n.1014A>G
n.438A>G
c.777A>G (p.Leu259=)
c.882A>G (p.Leu294=)
 dbSNP
Xg.43731780A>TCA413007943MAOAc.483A>T (p.Leu161Phe)
c.192A>T (p.Leu64Phe)
n.1014A>T
n.438A>T
c.777A>T (p.Leu259Phe)
c.882A>T (p.Leu294Phe)
Xg.43731781A>CCA413007947MAOAc.484A>C (p.Ile162Leu)
c.193A>C (p.Ile65Leu)
n.1015A>C
n.439A>C
c.778A>C (p.Ile260Leu)
c.883A>C (p.Ile295Leu)
Xg.43731781A>GCA413007950MAOAc.484A>G (p.Ile162Val)
c.193A>G (p.Ile65Val)
n.1015A>G
n.439A>G
c.778A>G (p.Ile260Val)
c.883A>G (p.Ile295Val)
 gnomAD v3 gnomAD v4
Xg.43731781A>TCA413007953MAOAc.484A>T (p.Ile162Phe)
c.193A>T (p.Ile65Phe)
n.1015A>T
n.439A>T
c.778A>T (p.Ile260Phe)
c.883A>T (p.Ile295Phe)
Xg.43731782T>ACA413007958MAOAc.485T>A (p.Ile162Asn)
c.194T>A (p.Ile65Asn)
n.1016T>A
n.440T>A
c.779T>A (p.Ile260Asn)
c.884T>A (p.Ile295Asn)
Xg.43731782T>CCA413007960MAOAc.485T>C (p.Ile162Thr)
c.194T>C (p.Ile65Thr)
n.1016T>C
n.440T>C
c.779T>C (p.Ile260Thr)
c.884T>C (p.Ile295Thr)
Xg.43731782T>GCA413007964MAOAc.485T>G (p.Ile162Ser)
c.194T>G (p.Ile65Ser)
n.1016T>G
n.440T>G
c.779T>G (p.Ile260Ser)
c.884T>G (p.Ile295Ser)
Xg.43731783T>ACA516138133MAOAc.486T>A (p.Ile162=)
c.195T>A (p.Ile65=)
n.1017T>A
n.441T>A
c.780T>A (p.Ile260=)
c.885T>A (p.Ile295=)
Xg.43731783T>CCA516138134MAOAc.486T>C (p.Ile162=)
c.195T>C (p.Ile65=)
n.1017T>C
n.441T>C
c.780T>C (p.Ile260=)
c.885T>C (p.Ile295=)
Xg.43731783T>GCA413007969MAOAc.486T>G (p.Ile162Met)
c.195T>G (p.Ile65Met)
n.1017T>G
n.441T>G
c.780T>G (p.Ile260Met)
c.885T>G (p.Ile295Met)
Xg.43731784delCA2820649444MAOAc.487del (p.Gln163SerfsTer12)
c.196del (p.Gln66SerfsTer12)
n.1018del
n.442del
c.781del (p.Gln261SerfsTer12)
c.886del (p.Gln296SerfsTer12)
Xg.43731784C>ACA413007972MAOAc.487C>A (p.Gln163Lys)
c.196C>A (p.Gln66Lys)
n.1018C>A
n.442C>A
c.781C>A (p.Gln261Lys)
c.886C>A (p.Gln296Lys)
Xg.43731784C=CA2426669445MAOAc.487C= (p.Gln163=)
c.196C= (p.Gln66=)
n.1018C=
n.442C=
c.781C= (p.Gln261=)
c.886C= (p.Gln296=)
Xg.43731784C>GCA413007976MAOAc.487C>G (p.Gln163Glu)
c.196C>G (p.Gln66Glu)
n.1018C>G
n.442C>G
c.781C>G (p.Gln261Glu)
c.886C>G (p.Gln296Glu)
Xg.43731784C>TCA120852MAOAc.487C>T (p.Gln163Ter)
c.196C>T (p.Gln66Ter)
n.1018C>T
n.442C>T
c.781C>T (p.Gln261Ter)
c.886C>T (p.Gln296Ter)
 ClinVar dbSNP
Xg.43731785A>CCA413007984MAOAc.488A>C (p.Gln163Pro)
c.197A>C (p.Gln66Pro)
n.1019A>C
n.443A>C
c.782A>C (p.Gln261Pro)
c.887A>C (p.Gln296Pro)
Xg.43731785A>GCA413007986MAOAc.488A>G (p.Gln163Arg)
c.197A>G (p.Gln66Arg)
n.1019A>G
n.443A>G
c.782A>G (p.Gln261Arg)
c.887A>G (p.Gln296Arg)
Xg.43731785A>TCA413007995MAOAc.488A>T (p.Gln163Leu)
c.197A>T (p.Gln66Leu)
n.1019A>T
n.443A>T
c.782A>T (p.Gln261Leu)
c.887A>T (p.Gln296Leu)
Xg.43731786G>ACA516138135MAOAc.489G>A (p.Gln163=)
c.198G>A (p.Gln66=)
n.1020G>A
n.444G>A
c.783G>A (p.Gln261=)
c.888G>A (p.Gln296=)
Xg.43731786G>CCA413007998MAOAc.489G>C (p.Gln163His)
c.198G>C (p.Gln66His)
n.1020G>C
n.444G>C
c.783G>C (p.Gln261His)
c.888G>C (p.Gln296His)
Xg.43731786G>TCA413008001MAOAc.489G>T (p.Gln163His)
c.198G>T (p.Gln66His)
n.1020G>T
n.444G>T
c.783G>T (p.Gln261His)
c.888G>T (p.Gln296His)
Xg.43731787C>ACA516138136MAOAc.490C>A (p.Arg164=)
c.199C>A (p.Arg67=)
n.1021C>A
n.445C>A
c.784C>A (p.Arg262=)
c.889C>A (p.Arg297=)
Xg.43731787C=CA2426669446MAOAc.490C= (p.Arg164=)
c.199C= (p.Arg67=)
n.1021C=
n.445C=
c.784C= (p.Arg262=)
c.889C= (p.Arg297=)
Xg.43731787C>GCA413008007MAOAc.490C>G (p.Arg164Gly)
c.199C>G (p.Arg67Gly)
n.1021C>G
n.445C>G
c.784C>G (p.Arg262Gly)
c.889C>G (p.Arg297Gly)
Xg.43731787C>TCA413008011MAOAc.490C>T (p.Arg164Trp)
c.199C>T (p.Arg67Trp)
n.1021C>T
n.445C>T
c.784C>T (p.Arg262Trp)
c.889C>T (p.Arg297Trp)
 dbSNP gnomAD v3 gnomAD v4
Xg.43731788G>ACA10390851MAOAc.491G>A (p.Arg164Gln)
c.200G>A (p.Arg67Gln)
n.1022G>A
n.446G>A
c.785G>A (p.Arg262Gln)
c.890G>A (p.Arg297Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.43731788G>CCA413008018MAOAc.491G>C (p.Arg164Pro)
c.200G>C (p.Arg67Pro)
n.1022G>C
n.446G>C
c.785G>C (p.Arg262Pro)
c.890G>C (p.Arg297Pro)
Xg.43731788G=CA2426669447MAOAc.491G= (p.Arg164=)
c.200G= (p.Arg67=)
n.1022G=
n.446G=
c.785G= (p.Arg262=)
c.890G= (p.Arg297=)
Xg.43731788G>TCA413008021MAOAc.491G>T (p.Arg164Leu)
c.200G>T (p.Arg67Leu)
n.1022G>T
n.446G>T
c.785G>T (p.Arg262Leu)
c.890G>T (p.Arg297Leu)
Xg.43731789G>ACA516138137MAOAc.492G>A (p.Arg164=)
c.201G>A (p.Arg67=)
n.1023G>A
n.447G>A
c.786G>A (p.Arg262=)
c.891G>A (p.Arg297=)
Xg.43731789G>CCA516138138MAOAc.492G>C (p.Arg164=)
c.201G>C (p.Arg67=)
n.1023G>C
n.447G>C
c.786G>C (p.Arg262=)
c.891G>C (p.Arg297=)
Xg.43731789G=CA2426669448MAOAc.492G= (p.Arg164=)
c.201G= (p.Arg67=)
n.1023G=
n.447G=
c.786G= (p.Arg262=)
c.891G= (p.Arg297=)
Xg.43731789G>TCA145916MAOAc.492G>T (p.Arg164=)
c.201G>T (p.Arg67=)
n.1023G>T
n.447G>T
c.786G>T (p.Arg262=)
c.891G>T (p.Arg297=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.43731790C>ACA413008029MAOAc.493C>A (p.Leu165Ile)
c.202C>A (p.Leu68Ile)
n.1024C>A
n.448C>A
c.787C>A (p.Leu263Ile)
c.892C>A (p.Leu298Ile)
Xg.43731790C>GCA413008034MAOAc.493C>G (p.Leu165Val)
c.202C>G (p.Leu68Val)
n.1024C>G
n.448C>G
c.787C>G (p.Leu263Val)
c.892C>G (p.Leu298Val)
Xg.43731790C>TCA413008032MAOAc.493C>T (p.Leu165Phe)
c.202C>T (p.Leu68Phe)
n.1024C>T
n.448C>T
c.787C>T (p.Leu263Phe)
c.892C>T (p.Leu298Phe)
Xg.43731791T>ACA413008039MAOAc.494T>A (p.Leu165His)
c.203T>A (p.Leu68His)
n.1025T>A
n.449T>A
c.788T>A (p.Leu263His)
c.893T>A (p.Leu298His)
Xg.43731791T>CCA329466103MAOAc.494T>C (p.Leu165Pro)
c.203T>C (p.Leu68Pro)
n.1025T>C
n.449T>C
c.788T>C (p.Leu263Pro)
c.893T>C (p.Leu298Pro)
 dbSNP
Xg.43731791T>GCA413008044MAOAc.494T>G (p.Leu165Arg)
c.203T>G (p.Leu68Arg)
n.1025T>G
n.449T>G
c.788T>G (p.Leu263Arg)
c.893T>G (p.Leu298Arg)
Xg.43731791T=CA2426669449MAOAc.494T= (p.Leu165=)
c.203T= (p.Leu68=)
n.1025T=
n.449T=
c.788T= (p.Leu263=)
c.893T= (p.Leu298=)
Xg.43731792T>ACA516138140MAOAc.495T>A (p.Leu165=)
c.204T>A (p.Leu68=)
n.1026T>A
n.450T>A
c.789T>A (p.Leu263=)
c.894T>A (p.Leu298=)
Xg.43731792T>CCA516138141MAOAc.495T>C (p.Leu165=)
c.204T>C (p.Leu68=)
n.1026T>C
n.450T>C
c.789T>C (p.Leu263=)
c.894T>C (p.Leu298=)
Xg.43731792T>GCA516138142MAOAc.495T>G (p.Leu165=)
c.204T>G (p.Leu68=)
n.1026T>G
n.450T>G
c.789T>G (p.Leu263=)
c.894T>G (p.Leu298=)
Xg.43731793C>ACA413008045MAOAc.496C>A (p.Pro166Thr)
c.205C>A (p.Pro69Thr)
n.1027C>A
n.451C>A
c.790C>A (p.Pro264Thr)
c.895C>A (p.Pro299Thr)
Xg.43731793C=CA2426669450MAOAc.496C= (p.Pro166=)
c.205C= (p.Pro69=)
n.1027C=
n.451C=
c.790C= (p.Pro264=)
c.895C= (p.Pro299=)
Xg.43731793C>GCA413008046MAOAc.496C>G (p.Pro166Ala)
c.205C>G (p.Pro69Ala)
n.1027C>G
n.451C>G
c.790C>G (p.Pro264Ala)
c.895C>G (p.Pro299Ala)
Xg.43731793C>TCA329466104MAOAc.496C>T (p.Pro166Ser)
c.205C>T (p.Pro69Ser)
n.1027C>T
n.451C>T
c.790C>T (p.Pro264Ser)
c.895C>T (p.Pro299Ser)
 dbSNP
Xg.43731794C>ACA413008051MAOAc.497C>A (p.Pro166Gln)
c.206C>A (p.Pro69Gln)
n.1028C>A
n.452C>A
c.791C>A (p.Pro264Gln)
c.896C>A (p.Pro299Gln)
 gnomAD v4
Xg.43731794C>GCA413008054MAOAc.497C>G (p.Pro166Arg)
c.206C>G (p.Pro69Arg)
n.1028C>G
n.452C>G
c.791C>G (p.Pro264Arg)
c.896C>G (p.Pro299Arg)
Xg.43731794C>TCA413008057MAOAc.497C>T (p.Pro166Leu)
c.206C>T (p.Pro69Leu)
n.1028C>T
n.452C>T
c.791C>T (p.Pro264Leu)
c.896C>T (p.Pro299Leu)
Xg.43731795A>CCA516138146MAOAc.498A>C (p.Pro166=)
c.207A>C (p.Pro69=)
n.1029A>C
n.453A>C
c.792A>C (p.Pro264=)
c.897A>C (p.Pro299=)
Xg.43731795A>GCA516138147MAOAc.498A>G (p.Pro166=)
c.207A>G (p.Pro69=)
n.1029A>G
n.453A>G
c.792A>G (p.Pro264=)
c.897A>G (p.Pro299=)
Xg.43731795A>TCA516138148MAOAc.498A>T (p.Pro166=)
c.207A>T (p.Pro69=)
n.1029A>T
n.453A>T
c.792A>T (p.Pro264=)
c.897A>T (p.Pro299=)
Xg.43731796A>CCA413008062MAOAc.499A>C (p.Met167Leu)
c.208A>C (p.Met70Leu)
n.1030A>C
n.454A>C
c.793A>C (p.Met265Leu)
c.898A>C (p.Met300Leu)
Xg.43731796A>GCA413008074MAOAc.499A>G (p.Met167Val)
c.208A>G (p.Met70Val)
n.1030A>G
n.454A>G
c.793A>G (p.Met265Val)
c.898A>G (p.Met300Val)
 COSMIC
Xg.43731796A>TCA413008076MAOAc.499A>T (p.Met167Leu)
c.208A>T (p.Met70Leu)
n.1030A>T
n.454A>T
c.793A>T (p.Met265Leu)
c.898A>T (p.Met300Leu)
Xg.43731797T>ACA413008089MAOAc.500T>A (p.Met167Lys)
c.209T>A (p.Met70Lys)
n.1031T>A
n.455T>A
c.794T>A (p.Met265Lys)
c.899T>A (p.Met300Lys)
Xg.43731797T>CCA413008085MAOAc.500T>C (p.Met167Thr)
c.209T>C (p.Met70Thr)
n.1031T>C
n.455T>C
c.794T>C (p.Met265Thr)
c.899T>C (p.Met300Thr)
Xg.43731797T>GCA413008084MAOAc.500T>G (p.Met167Arg)
c.209T>G (p.Met70Arg)
n.1031T>G
n.455T>G
c.794T>G (p.Met265Arg)
c.899T>G (p.Met300Arg)
Xg.43731798G>ACA413008092MAOAc.501G>A (p.Met167Ile)
c.210G>A (p.Met70Ile)
n.1032G>A
n.456G>A
c.795G>A (p.Met265Ile)
c.900G>A (p.Met300Ile)
Xg.43731798G>CCA413008095MAOAc.501G>C (p.Met167Ile)
c.210G>C (p.Met70Ile)
n.1032G>C
n.456G>C
c.795G>C (p.Met265Ile)
c.900G>C (p.Met300Ile)
Xg.43731798G>TCA413008099MAOAc.501G>T (p.Met167Ile)
c.210G>T (p.Met70Ile)
n.1032G>T
n.456G>T
c.795G>T (p.Met265Ile)
c.900G>T (p.Met300Ile)

Number of alleles fetched