Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108084968_108084987delCA645607822PSMD10c.671_*9del (n.[c.671_*9del;Val224AspfsTer18])
c.572_591del (n.[c.572_591del;Val191AspfsTer18])
c.*136_*155del (n.*136_*155del)
c.548_*9del (n.[c.548_*9del;Val183AspfsTer18])
COSMIC
Xg.108084985C>ACA413841501PSMD10c.670G>T (p.Val224Leu)
c.571G>T (p.Val191Leu)
c.*135G>T (n.*135G>T)
c.547G>T (p.Val183Leu)
Xg.108084985C>GCA413841502PSMD10c.670G>C (p.Val224Leu)
c.571G>C (p.Val191Leu)
c.*135G>C (n.*135G>C)
c.547G>C (p.Val183Leu)
Xg.108084985C>TCA413841503PSMD10c.670G>A (p.Val224Met)
c.571G>A (p.Val191Met)
c.*135G>A (n.*135G>A)
c.547G>A (p.Val183Met)
Xg.108084986C>ACA413841504PSMD10c.669G>T (p.Met223Ile)
c.570G>T (p.Met190Ile)
c.*134G>T (n.*134G>T)
c.546G>T (p.Met182Ile)
Xg.108084986C=CA2450520313PSMD10c.669G= (p.Met223=)
c.570G= (p.Met190=)
c.*134G= (n.*134G=)
c.546G= (p.Met182=)
Xg.108084986C>GCA413841505PSMD10c.669G>C (p.Met223Ile)
c.570G>C (p.Met190Ile)
c.*134G>C (n.*134G>C)
c.546G>C (p.Met182Ile)
Xg.108084986C>TCA413841506PSMD10c.669G>A (p.Met223Ile)
c.570G>A (p.Met190Ile)
c.*134G>A (n.*134G>A)
c.546G>A (p.Met182Ile)
dbSNP
Xg.108084987A>CCA413841509PSMD10c.668T>G (p.Met223Arg)
c.569T>G (p.Met190Arg)
c.*133T>G (n.*133T>G)
c.545T>G (p.Met182Arg)
Xg.108084987A>GCA413841507PSMD10c.668T>C (p.Met223Thr)
c.569T>C (p.Met190Thr)
c.*133T>C (n.*133T>C)
c.545T>C (p.Met182Thr)
Xg.108084987A>TCA413841508PSMD10c.668T>A (p.Met223Lys)
c.569T>A (p.Met190Lys)
c.*133T>A (n.*133T>A)
c.545T>A (p.Met182Lys)
Xg.108084988T>ACA413841510PSMD10c.667A>T (p.Met223Leu)
c.568A>T (p.Met190Leu)
c.*132A>T (n.*132A>T)
c.544A>T (p.Met182Leu)
Xg.108084988T>CCA413841511PSMD10c.667A>G (p.Met223Val)
c.568A>G (p.Met190Val)
c.*132A>G (n.*132A>G)
c.544A>G (p.Met182Val)
Xg.108084988T>GCA413841512PSMD10c.667A>C (p.Met223Leu)
c.568A>C (p.Met190Leu)
c.*132A>C (n.*132A>C)
c.544A>C (p.Met182Leu)
gnomAD v4
Xg.108084989T>ACA413841513PSMD10c.666A>T (p.Arg222Ser)
c.567A>T (p.Arg189Ser)
c.*131A>T (n.*131A>T)
c.543A>T (p.Arg181Ser)
Xg.108084989T>CCA517921152PSMD10c.666A>G (p.Arg222=)
c.567A>G (p.Arg189=)
c.*131A>G (n.*131A>G)
c.543A>G (p.Arg181=)
Xg.108084989T>GCA413841514PSMD10c.666A>C (p.Arg222Ser)
c.567A>C (p.Arg189Ser)
c.*131A>C (n.*131A>C)
c.543A>C (p.Arg181Ser)
Xg.108084990C>ACA413841515PSMD10c.665G>T (p.Arg222Ile)
c.566G>T (p.Arg189Ile)
c.*130G>T (n.*130G>T)
c.542G>T (p.Arg181Ile)
Xg.108084990C>GCA413841516PSMD10c.665G>C (p.Arg222Thr)
c.566G>C (p.Arg189Thr)
c.*130G>C (n.*130G>C)
c.542G>C (p.Arg181Thr)
gnomAD v4
Xg.108084990C>TCA413841517PSMD10c.665G>A (p.Arg222Lys)
c.566G>A (p.Arg189Lys)
c.*130G>A (n.*130G>A)
c.542G>A (p.Arg181Lys)
Xg.108084991T>ACA413841518PSMD10c.664A>T (p.Arg222Ter)
c.565A>T (p.Arg189Ter)
c.*129A>T (n.*129A>T)
c.541A>T (p.Arg181Ter)
Xg.108084991T>CCA413841519PSMD10c.664A>G (p.Arg222Gly)
c.565A>G (p.Arg189Gly)
c.*129A>G (n.*129A>G)
c.541A>G (p.Arg181Gly)
Xg.108084991T>GCA517921153PSMD10c.664A>C (p.Arg222=)
c.565A>C (p.Arg189=)
c.*129A>C (n.*129A>C)
c.541A>C (p.Arg181=)
Xg.108084992C>ACA413841520PSMD10c.663G>T (p.Lys221Asn)
c.564G>T (p.Lys188Asn)
c.*128G>T (n.*128G>T)
c.540G>T (p.Lys180Asn)
gnomAD v4
Xg.108084992C>GCA413841521PSMD10c.663G>C (p.Lys221Asn)
c.564G>C (p.Lys188Asn)
c.*128G>C (n.*128G>C)
c.540G>C (p.Lys180Asn)
gnomAD v4
Xg.108084992C>TCA517921154PSMD10c.663G>A (p.Lys221=)
c.564G>A (p.Lys188=)
c.*128G>A (n.*128G>A)
c.540G>A (p.Lys180=)
Xg.108084993T>ACA413841523PSMD10c.662A>T (p.Lys221Met)
c.563A>T (p.Lys188Met)
c.*127A>T (n.*127A>T)
c.539A>T (p.Lys180Met)
Xg.108084993T>CCA10486663PSMD10c.662A>G (p.Lys221Arg)
c.563A>G (p.Lys188Arg)
c.*127A>G (n.*127A>G)
c.539A>G (p.Lys180Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108084993T>GCA413841522PSMD10c.662A>C (p.Lys221Thr)
c.563A>C (p.Lys188Thr)
c.*127A>C (n.*127A>C)
c.539A>C (p.Lys180Thr)
Xg.108084993T=CA2450520314PSMD10c.662A= (p.Lys221=)
c.563A= (p.Lys188=)
c.*127A= (n.*127A=)
c.539A= (p.Lys180=)
Xg.108084994T>ACA413841524PSMD10c.661A>T (p.Lys221Ter)
c.562A>T (p.Lys188Ter)
c.*126A>T (n.*126A>T)
c.538A>T (p.Lys180Ter)
Xg.108084994T>CCA413841525PSMD10c.661A>G (p.Lys221Glu)
c.562A>G (p.Lys188Glu)
c.*126A>G (n.*126A>G)
c.538A>G (p.Lys180Glu)
Xg.108084994T>GCA413841526PSMD10c.661A>C (p.Lys221Gln)
c.562A>C (p.Lys188Gln)
c.*126A>C (n.*126A>C)
c.538A>C (p.Lys180Gln)
Xg.108084994_108084995delinsTGCA2450520315PSMD10c.660_661delinsCA (p.Leu220=)
c.561_562delinsCA (p.Leu187=)
c.*125_*126delinsCA (n.*125_*126delinsCA)
c.537_538delinsCA (p.Leu179=)
Xg.108084995_108084998delCA2694424296PSMD10c.658_661del (p.Leu220ArgfsTer?)
c.559_562del (p.Leu187ArgfsTer?)
c.*123_*126del (n.*123_*126del)
c.535_538del (p.Leu179ArgfsTer?)
gnomAD v4
Xg.108084995delCA643631641PSMD10c.660del (p.Lys221ArgfsTer?)
c.561del (p.Lys188ArgfsTer?)
c.*125del (n.*125del)
c.537del (p.Lys180ArgfsTer?)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108084995G>ACA517921155PSMD10c.660C>T (p.Leu220=)
c.561C>T (p.Leu187=)
c.*125C>T (n.*125C>T)
c.537C>T (p.Leu179=)
Xg.108084995G>CCA517921156PSMD10c.660C>G (p.Leu220=)
c.561C>G (p.Leu187=)
c.*125C>G (n.*125C>G)
c.537C>G (p.Leu179=)
Xg.108084995G>TCA517921157PSMD10c.660C>A (p.Leu220=)
c.561C>A (p.Leu187=)
c.*125C>A (n.*125C>A)
c.537C>A (p.Leu179=)
Xg.108084996A>CCA413841527PSMD10c.659T>G (p.Leu220Arg)
c.560T>G (p.Leu187Arg)
c.*124T>G (n.*124T>G)
c.536T>G (p.Leu179Arg)
Xg.108084996A>GCA413841528PSMD10c.659T>C (p.Leu220Pro)
c.560T>C (p.Leu187Pro)
c.*124T>C (n.*124T>C)
c.536T>C (p.Leu179Pro)
Xg.108084996A>TCA413841529PSMD10c.659T>A (p.Leu220His)
c.560T>A (p.Leu187His)
c.*124T>A (n.*124T>A)
c.536T>A (p.Leu179His)
Xg.108084997G>ACA413841530PSMD10c.658C>T (p.Leu220Phe)
c.559C>T (p.Leu187Phe)
c.*123C>T (n.*123C>T)
c.535C>T (p.Leu179Phe)
Xg.108084997G>CCA413841531PSMD10c.658C>G (p.Leu220Val)
c.559C>G (p.Leu187Val)
c.*123C>G (n.*123C>G)
c.535C>G (p.Leu179Val)
Xg.108084997G>TCA413841532PSMD10c.658C>A (p.Leu220Ile)
c.559C>A (p.Leu187Ile)
c.*123C>A (n.*123C>A)
c.535C>A (p.Leu179Ile)
Xg.108084998T>ACA517921158PSMD10c.657A>T (p.Ile219=)
c.558A>T (p.Ile186=)
c.*122A>T (n.*122A>T)
c.534A>T (p.Ile178=)
Xg.108084998T>CCA413841533PSMD10c.657A>G (p.Ile219Met)
c.558A>G (p.Ile186Met)
c.*122A>G (n.*122A>G)
c.534A>G (p.Ile178Met)
Xg.108084998T>GCA517921159PSMD10c.657A>C (p.Ile219=)
c.558A>C (p.Ile186=)
c.*122A>C (n.*122A>C)
c.534A>C (p.Ile178=)
gnomAD v4
Xg.108084999A=CA2450520316PSMD10c.656T= (p.Ile219=)
c.557T= (p.Ile186=)
c.*121T= (n.*121T=)
c.533T= (p.Ile178=)
Xg.108084999A>CCA413841534PSMD10c.656T>G (p.Ile219Arg)
c.557T>G (p.Ile186Arg)
c.*121T>G (n.*121T>G)
c.533T>G (p.Ile178Arg)
Xg.108084999A>GCA413841535PSMD10c.656T>C (p.Ile219Thr)
c.557T>C (p.Ile186Thr)
c.*121T>C (n.*121T>C)
c.533T>C (p.Ile178Thr)
dbSNP gnomAD v2 gnomAD v4
Xg.108084999A>TCA413841536PSMD10c.656T>A (p.Ile219Lys)
c.557T>A (p.Ile186Lys)
c.*121T>A (n.*121T>A)
c.533T>A (p.Ile178Lys)
Xg.108085000T>ACA10486664PSMD10c.655A>T (p.Ile219Leu)
c.556A>T (p.Ile186Leu)
c.*120A>T (n.*120A>T)
c.532A>T (p.Ile178Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108085000T>CCA413841538PSMD10c.655A>G (p.Ile219Val)
c.556A>G (p.Ile186Val)
c.*120A>G (n.*120A>G)
c.532A>G (p.Ile178Val)
Xg.108085000T>GCA413841537PSMD10c.655A>C (p.Ile219Leu)
c.556A>C (p.Ile186Leu)
c.*120A>C (n.*120A>C)
c.532A>C (p.Ile178Leu)
Xg.108085000T=CA2450520317PSMD10c.655A= (p.Ile219=)
c.556A= (p.Ile186=)
c.*120A= (n.*120A=)
c.532A= (p.Ile178=)
Xg.108085001T>ACA413841539PSMD10c.654A>T (p.Leu218Phe)
c.555A>T (p.Leu185Phe)
c.*119A>T (n.*119A>T)
c.531A>T (p.Leu177Phe)
Xg.108085001T>CCA517921160PSMD10c.654A>G (p.Leu218=)
c.555A>G (p.Leu185=)
c.*119A>G (n.*119A>G)
c.531A>G (p.Leu177=)
Xg.108085001T>GCA413841540PSMD10c.654A>C (p.Leu218Phe)
c.555A>C (p.Leu185Phe)
c.*119A>C (n.*119A>C)
c.531A>C (p.Leu177Phe)
Xg.108085002A>CCA413841541PSMD10c.653T>G (p.Leu218Ter)
c.554T>G (p.Leu185Ter)
c.*118T>G (n.*118T>G)
c.530T>G (p.Leu177Ter)
Xg.108085002A>GCA413841542PSMD10c.653T>C (p.Leu218Ser)
c.554T>C (p.Leu185Ser)
c.*118T>C (n.*118T>C)
c.530T>C (p.Leu177Ser)
Xg.108085002A>TCA413841543PSMD10c.653T>A (p.Leu218Ter)
c.554T>A (p.Leu185Ter)
c.*118T>A (n.*118T>A)
c.530T>A (p.Leu177Ter)
Xg.108085003A=CA2450520318PSMD10c.652T= (p.Leu218=)
c.553T= (p.Leu185=)
c.*117T= (n.*117T=)
c.529T= (p.Leu177=)
Xg.108085003A>CCA413841544PSMD10c.652T>G (p.Leu218Val)
c.553T>G (p.Leu185Val)
c.*117T>G (n.*117T>G)
c.529T>G (p.Leu177Val)
Xg.108085003A>GCA517921161PSMD10c.652T>C (p.Leu218=)
c.553T>C (p.Leu185=)
c.*117T>C (n.*117T>C)
c.529T>C (p.Leu177=)
Xg.108085003A>TCA10486665PSMD10c.652T>A (p.Leu218Ile)
c.553T>A (p.Leu185Ile)
c.*117T>A (n.*117T>A)
c.529T>A (p.Leu177Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108085004A=CA2450520319PSMD10c.651T= (p.Gly217=)
c.552T= (p.Gly184=)
c.*116T= (n.*116T=)
c.528T= (p.Gly176=)
Xg.108085004A>CCA517921162PSMD10c.651T>G (p.Gly217=)
c.552T>G (p.Gly184=)
c.*116T>G (n.*116T>G)
c.528T>G (p.Gly176=)
Xg.108085004A>GCA10486666PSMD10c.651T>C (p.Gly217=)
c.552T>C (p.Gly184=)
c.*116T>C (n.*116T>C)
c.528T>C (p.Gly176=)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108085004A>TCA517921163PSMD10c.651T>A (p.Gly217=)
c.552T>A (p.Gly184=)
c.*116T>A (n.*116T>A)
c.528T>A (p.Gly176=)
Xg.108085005C>ACA413841545PSMD10c.650G>T (p.Gly217Val)
c.551G>T (p.Gly184Val)
c.*115G>T (n.*115G>T)
c.527G>T (p.Gly176Val)
gnomAD v4
Xg.108085005C>GCA413841546PSMD10c.650G>C (p.Gly217Ala)
c.551G>C (p.Gly184Ala)
c.*115G>C (n.*115G>C)
c.527G>C (p.Gly176Ala)
Xg.108085005C>TCA413841547PSMD10c.650G>A (p.Gly217Asp)
c.551G>A (p.Gly184Asp)
c.*115G>A (n.*115G>A)
c.527G>A (p.Gly176Asp)
Xg.108085006C>ACA413841548PSMD10c.649G>T (p.Gly217Cys)
c.550G>T (p.Gly184Cys)
c.*114G>T (n.*114G>T)
c.526G>T (p.Gly176Cys)
Xg.108085006C>GCA413841549PSMD10c.649G>C (p.Gly217Arg)
c.550G>C (p.Gly184Arg)
c.*114G>C (n.*114G>C)
c.526G>C (p.Gly176Arg)
gnomAD v4
Xg.108085006C>TCA413841550PSMD10c.649G>A (p.Gly217Ser)
c.550G>A (p.Gly184Ser)
c.*114G>A (n.*114G>A)
c.526G>A (p.Gly176Ser)
Xg.108085007C>ACA517921164PSMD10c.648G>T (p.Leu216=)
c.549G>T (p.Leu183=)
c.*113G>T (n.*113G>T)
c.525G>T (p.Leu175=)
Xg.108085007C>GCA517921165PSMD10c.648G>C (p.Leu216=)
c.549G>C (p.Leu183=)
c.*113G>C (n.*113G>C)
c.525G>C (p.Leu175=)
Xg.108085007C>TCA517921166PSMD10c.648G>A (p.Leu216=)
c.549G>A (p.Leu183=)
c.*113G>A (n.*113G>A)
c.525G>A (p.Leu175=)
Xg.108085008A>CCA413841553PSMD10c.647T>G (p.Leu216Arg)
c.548T>G (p.Leu183Arg)
c.*112T>G (n.*112T>G)
c.524T>G (p.Leu175Arg)
Xg.108085008A>GCA413841551PSMD10c.647T>C (p.Leu216Pro)
c.548T>C (p.Leu183Pro)
c.*112T>C (n.*112T>C)
c.524T>C (p.Leu175Pro)
Xg.108085008A>TCA413841552PSMD10c.647T>A (p.Leu216Gln)
c.548T>A (p.Leu183Gln)
c.*112T>A (n.*112T>A)
c.524T>A (p.Leu175Gln)
Xg.108085009G>ACA517921167PSMD10c.646C>T (p.Leu216=)
c.547C>T (p.Leu183=)
c.*111C>T (n.*111C>T)
c.523C>T (p.Leu175=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108085009G>CCA413841554PSMD10c.646C>G (p.Leu216Val)
c.547C>G (p.Leu183Val)
c.*111C>G (n.*111C>G)
c.523C>G (p.Leu175Val)
Xg.108085009G=CA2450520320PSMD10c.646C= (p.Leu216=)
c.547C= (p.Leu183=)
c.*111C= (n.*111C=)
c.523C= (p.Leu175=)
Xg.108085009G>TCA413841555PSMD10c.646C>A (p.Leu216Met)
c.547C>A (p.Leu183Met)
c.*111C>A (n.*111C>A)
c.523C>A (p.Leu175Met)
Xg.108085010G>ACA517921168PSMD10c.645C>T (p.Gly215=)
c.546C>T (p.Gly182=)
c.*110C>T (n.*110C>T)
c.522C>T (p.Gly174=)
Xg.108085010G>CCA517921170PSMD10c.645C>G (p.Gly215=)
c.546C>G (p.Gly182=)
c.*110C>G (n.*110C>G)
c.522C>G (p.Gly174=)
Xg.108085010G>TCA517921169PSMD10c.645C>A (p.Gly215=)
c.546C>A (p.Gly182=)
c.*110C>A (n.*110C>A)
c.522C>A (p.Gly174=)
Xg.108085011C>ACA413841556PSMD10c.644G>T (p.Gly215Val)
c.545G>T (p.Gly182Val)
c.*109G>T (n.*109G>T)
c.521G>T (p.Gly174Val)
Xg.108085011C>GCA413841557PSMD10c.644G>C (p.Gly215Ala)
c.545G>C (p.Gly182Ala)
c.*109G>C (n.*109G>C)
c.521G>C (p.Gly174Ala)
Xg.108085011C>TCA413841558PSMD10c.644G>A (p.Gly215Asp)
c.545G>A (p.Gly182Asp)
c.*109G>A (n.*109G>A)
c.521G>A (p.Gly174Asp)
Xg.108085012C>ACA413841559PSMD10c.643G>T (p.Gly215Cys)
c.544G>T (p.Gly182Cys)
c.*108G>T (n.*108G>T)
c.520G>T (p.Gly174Cys)
gnomAD v4
Xg.108085012C=CA2450520321PSMD10c.643G= (p.Gly215=)
c.544G= (p.Gly182=)
c.*108G= (n.*108G=)
c.520G= (p.Gly174=)
Xg.108085012C>GCA413841560PSMD10c.643G>C (p.Gly215Arg)
c.544G>C (p.Gly182Arg)
c.*108G>C (n.*108G>C)
c.520G>C (p.Gly174Arg)
Xg.108085012C>TCA413841561PSMD10c.643G>A (p.Gly215Ser)
c.544G>A (p.Gly182Ser)
c.*108G>A (n.*108G>A)
c.520G>A (p.Gly174Ser)
dbSNP gnomAD v2 gnomAD v4
Xg.108085013A>CCA517921171PSMD10c.642T>G (p.Gly214=)
c.543T>G (p.Gly181=)
c.*107T>G (n.*107T>G)
c.519T>G (p.Gly173=)
Xg.108085013A>GCA517921172PSMD10c.642T>C (p.Gly214=)
c.543T>C (p.Gly181=)
c.*107T>C (n.*107T>C)
c.519T>C (p.Gly173=)
gnomAD v4
Xg.108085013A>TCA517921173PSMD10c.642T>A (p.Gly214=)
c.543T>A (p.Gly181=)
c.*107T>A (n.*107T>A)
c.519T>A (p.Gly173=)
Xg.108085014C>ACA413841562PSMD10c.641G>T (p.Gly214Val)
c.542G>T (p.Gly181Val)
c.*106G>T (n.*106G>T)
c.518G>T (p.Gly173Val)
Xg.108085014C>GCA413841563PSMD10c.641G>C (p.Gly214Ala)
c.542G>C (p.Gly181Ala)
c.*106G>C (n.*106G>C)
c.518G>C (p.Gly173Ala)
Xg.108085014C>TCA413841564PSMD10c.641G>A (p.Gly214Asp)
c.542G>A (p.Gly181Asp)
c.*106G>A (n.*106G>A)
c.518G>A (p.Gly173Asp)
Xg.108085015C>ACA413841567PSMD10c.640G>T (p.Gly214Cys)
c.541G>T (p.Gly181Cys)
c.*105G>T (n.*105G>T)
c.517G>T (p.Gly173Cys)
gnomAD v4
Xg.108085015C>GCA413841566PSMD10c.640G>C (p.Gly214Arg)
c.541G>C (p.Gly181Arg)
c.*105G>C (n.*105G>C)
c.517G>C (p.Gly173Arg)
Xg.108085015C>TCA413841565PSMD10c.640G>A (p.Gly214Ser)
c.541G>A (p.Gly181Ser)
c.*105G>A (n.*105G>A)
c.517G>A (p.Gly173Ser)
Xg.108085016T>ACA413841568PSMD10c.639A>T (p.Lys213Asn)
c.540A>T (p.Lys180Asn)
c.*104A>T (n.*104A>T)
c.516A>T (p.Lys172Asn)
Xg.108085016T>CCA517921174PSMD10c.639A>G (p.Lys213=)
c.540A>G (p.Lys180=)
c.*104A>G (n.*104A>G)
c.516A>G (p.Lys172=)
dbSNP
Xg.108085016T>GCA413841569PSMD10c.639A>C (p.Lys213Asn)
c.540A>C (p.Lys180Asn)
c.*104A>C (n.*104A>C)
c.516A>C (p.Lys172Asn)
Xg.108085016T=CA2450520322PSMD10c.639A= (p.Lys213=)
c.540A= (p.Lys180=)
c.*104A= (n.*104A=)
c.516A= (p.Lys172=)
Xg.108085017T>ACA413841570PSMD10c.638A>T (p.Lys213Ile)
c.539A>T (p.Lys180Ile)
c.*103A>T (n.*103A>T)
c.515A>T (p.Lys172Ile)
Xg.108085017T>CCA413841571PSMD10c.638A>G (p.Lys213Arg)
c.539A>G (p.Lys180Arg)
c.*103A>G (n.*103A>G)
c.515A>G (p.Lys172Arg)
dbSNP gnomAD v2 gnomAD v4
Xg.108085017T>GCA413841572PSMD10c.638A>C (p.Lys213Thr)
c.539A>C (p.Lys180Thr)
c.*103A>C (n.*103A>C)
c.515A>C (p.Lys172Thr)
Xg.108085017T=CA2450520323PSMD10c.638A= (p.Lys213=)
c.539A= (p.Lys180=)
c.*103A= (n.*103A=)
c.515A= (p.Lys172=)
Xg.108085018T>ACA413841575PSMD10c.637A>T (p.Lys213Ter)
c.538A>T (p.Lys180Ter)
c.*102A>T (n.*102A>T)
c.514A>T (p.Lys172Ter)
Xg.108085018T>CCA413841574PSMD10c.637A>G (p.Lys213Glu)
c.538A>G (p.Lys180Glu)
c.*102A>G (n.*102A>G)
c.514A>G (p.Lys172Glu)
dbSNP gnomAD v3 gnomAD v4
Xg.108085018T>GCA413841573PSMD10c.637A>C (p.Lys213Gln)
c.538A>C (p.Lys180Gln)
c.*102A>C (n.*102A>C)
c.514A>C (p.Lys172Gln)
Xg.108085018T=CA2450520324PSMD10c.637A= (p.Lys213=)
c.538A= (p.Lys180=)
c.*102A= (n.*102A=)
c.514A= (p.Lys172=)
Xg.108085018_108085019delinsTGCA2450520325PSMD10c.636_637delinsCA (p.Ala212=)
c.537_538delinsCA (p.Ala179=)
c.*101_*102delinsCA (n.*101_*102delinsCA)
c.513_514delinsCA (p.Ala171=)
Xg.108085019G>ACA517921175PSMD10c.636C>T (p.Ala212=)
c.537C>T (p.Ala179=)
c.*101C>T (n.*101C>T)
c.513C>T (p.Ala171=)
Xg.108085019G>CCA517921176PSMD10c.636C>G (p.Ala212=)
c.537C>G (p.Ala179=)
c.*101C>G (n.*101C>G)
c.513C>G (p.Ala171=)
gnomAD v4
Xg.108085019G>TCA517921177PSMD10c.636C>A (p.Ala212=)
c.537C>A (p.Ala179=)
c.*101C>A (n.*101C>A)
c.513C>A (p.Ala171=)
Xg.108085020delCA1136170266PSMD10c.636del (p.Gly214ValfsTer5)
c.537del (p.Gly181ValfsTer5)
c.*101del (n.*101del)
c.513del (p.Gly173ValfsTer5)
dbSNP gnomAD v3 gnomAD v4
Xg.108085020G>ACA413841576PSMD10c.635C>T (p.Ala212Val)
c.536C>T (p.Ala179Val)
c.*100C>T (n.*100C>T)
c.512C>T (p.Ala171Val)
Xg.108085020G>CCA413841577PSMD10c.635C>G (p.Ala212Gly)
c.536C>G (p.Ala179Gly)
c.*100C>G (n.*100C>G)
c.512C>G (p.Ala171Gly)
Xg.108085020G>TCA413841578PSMD10c.635C>A (p.Ala212Asp)
c.536C>A (p.Ala179Asp)
c.*100C>A (n.*100C>A)
c.512C>A (p.Ala171Asp)
Xg.108085021C>ACA413841579PSMD10c.634G>T (p.Ala212Ser)
c.535G>T (p.Ala179Ser)
c.*99G>T (n.*99G>T)
c.511G>T (p.Ala171Ser)
Xg.108085021C=CA2450520326PSMD10c.634G= (p.Ala212=)
c.535G= (p.Ala179=)
c.*99G= (n.*99G=)
c.511G= (p.Ala171=)
Xg.108085021C>GCA413841580PSMD10c.634G>C (p.Ala212Pro)
c.535G>C (p.Ala179Pro)
c.*99G>C (n.*99G>C)
c.511G>C (p.Ala171Pro)
Xg.108085021C>TCA413841581PSMD10c.634G>A (p.Ala212Thr)
c.535G>A (p.Ala179Thr)
c.*99G>A (n.*99G>A)
c.511G>A (p.Ala171Thr)
dbSNP gnomAD v2 gnomAD v4
Xg.108085022C>ACA517921178PSMD10c.633G>T (p.Val211=)
c.534G>T (p.Val178=)
c.*98G>T (n.*98G>T)
c.510G>T (p.Val170=)
Xg.108085022C>GCA517921179PSMD10c.633G>C (p.Val211=)
c.534G>C (p.Val178=)
c.*98G>C (n.*98G>C)
c.510G>C (p.Val170=)
Xg.108085022C>TCA517921180PSMD10c.633G>A (p.Val211=)
c.534G>A (p.Val178=)
c.*98G>A (n.*98G>A)
c.510G>A (p.Val170=)
Xg.108085023A>CCA413841582PSMD10c.632T>G (p.Val211Gly)
c.533T>G (p.Val178Gly)
c.*97T>G (n.*97T>G)
c.509T>G (p.Val170Gly)
Xg.108085023A>GCA413841584PSMD10c.632T>C (p.Val211Ala)
c.533T>C (p.Val178Ala)
c.*97T>C (n.*97T>C)
c.509T>C (p.Val170Ala)
Xg.108085023A>TCA413841583PSMD10c.632T>A (p.Val211Glu)
c.533T>A (p.Val178Glu)
c.*97T>A (n.*97T>A)
c.509T>A (p.Val170Glu)
COSMIC
Xg.108085024C>ACA413841585PSMD10c.631G>T (p.Val211Leu)
c.532G>T (p.Val178Leu)
c.*96G>T (n.*96G>T)
c.508G>T (p.Val170Leu)
Xg.108085024C>GCA413841586PSMD10c.631G>C (p.Val211Leu)
c.532G>C (p.Val178Leu)
c.*96G>C (n.*96G>C)
c.508G>C (p.Val170Leu)
Xg.108085024C>TCA413841587PSMD10c.631G>A (p.Val211Met)
c.532G>A (p.Val178Met)
c.*96G>A (n.*96G>A)
c.508G>A (p.Val170Met)
Xg.108085025T>ACA413841588PSMD10c.630A>T (p.Gln210His)
c.531A>T (p.Gln177His)
c.*95A>T (n.*95A>T)
c.507A>T (p.Gln169His)
Xg.108085025T>CCA517921181PSMD10c.630A>G (p.Gln210=)
c.531A>G (p.Gln177=)
c.*95A>G (n.*95A>G)
c.507A>G (p.Gln169=)
Xg.108085025T>GCA413841589PSMD10c.630A>C (p.Gln210His)
c.531A>C (p.Gln177His)
c.*95A>C (n.*95A>C)
c.507A>C (p.Gln169His)
Xg.108085026T>ACA413841590PSMD10c.629A>T (p.Gln210Leu)
c.530A>T (p.Gln177Leu)
c.*94A>T (n.*94A>T)
c.506A>T (p.Gln169Leu)
Xg.108085026T>CCA413841591PSMD10c.629A>G (p.Gln210Arg)
c.530A>G (p.Gln177Arg)
c.*94A>G (n.*94A>G)
c.506A>G (p.Gln169Arg)
dbSNP gnomAD v4
Xg.108085026T>GCA413841592PSMD10c.629A>C (p.Gln210Pro)
c.530A>C (p.Gln177Pro)
c.*94A>C (n.*94A>C)
c.506A>C (p.Gln169Pro)
Xg.108085026T=CA2450520327PSMD10c.629A= (p.Gln210=)
c.530A= (p.Gln177=)
c.*94A= (n.*94A=)
c.506A= (p.Gln169=)
Xg.108085027G>ACA413841593PSMD10c.628C>T (p.Gln210Ter)
c.529C>T (p.Gln177Ter)
c.*93C>T (n.*93C>T)
c.505C>T (p.Gln169Ter)
COSMIC
Xg.108085027G>CCA413841594PSMD10c.628C>G (p.Gln210Glu)
c.529C>G (p.Gln177Glu)
c.*93C>G (n.*93C>G)
c.505C>G (p.Gln169Glu)
Xg.108085027G>TCA413841595PSMD10c.628C>A (p.Gln210Lys)
c.529C>A (p.Gln177Lys)
c.*93C>A (n.*93C>A)
c.505C>A (p.Gln169Lys)
Xg.108085028C>ACA517921182PSMD10c.627G>T (p.Leu209=)
c.528G>T (p.Leu176=)
c.*92G>T (n.*92G>T)
c.504G>T (p.Leu168=)
Xg.108085028C>GCA517921183PSMD10c.627G>C (p.Leu209=)
c.528G>C (p.Leu176=)
c.*92G>C (n.*92G>C)
c.504G>C (p.Leu168=)
Xg.108085028C>TCA517921184PSMD10c.627G>A (p.Leu209=)
c.528G>A (p.Leu176=)
c.*92G>A (n.*92G>A)
c.504G>A (p.Leu168=)
Xg.108085029A>CCA413841598PSMD10c.626T>G (p.Leu209Arg)
c.527T>G (p.Leu176Arg)
c.*91T>G (n.*91T>G)
c.503T>G (p.Leu168Arg)
Xg.108085029A>GCA413841597PSMD10c.626T>C (p.Leu209Pro)
c.527T>C (p.Leu176Pro)
c.*91T>C (n.*91T>C)
c.503T>C (p.Leu168Pro)
Xg.108085029A>TCA413841596PSMD10c.626T>A (p.Leu209Gln)
c.527T>A (p.Leu176Gln)
c.*91T>A (n.*91T>A)
c.503T>A (p.Leu168Gln)
Xg.108085030G>ACA517921185PSMD10c.625C>T (p.Leu209=)
c.526C>T (p.Leu176=)
c.*90C>T (n.*90C>T)
c.502C>T (p.Leu168=)
Xg.108085030G>CCA413841600PSMD10c.625C>G (p.Leu209Val)
c.526C>G (p.Leu176Val)
c.*90C>G (n.*90C>G)
c.502C>G (p.Leu168Val)
Xg.108085030G>TCA413841599PSMD10c.625C>A (p.Leu209Met)
c.526C>A (p.Leu176Met)
c.*90C>A (n.*90C>A)
c.502C>A (p.Leu168Met)
Xg.108085031G>ACA517921188PSMD10c.624C>T (p.Pro208=)
c.525C>T (p.Pro175=)
c.*89C>T (n.*89C>T)
c.501C>T (p.Pro167=)
Xg.108085031G>CCA517921187PSMD10c.624C>G (p.Pro208=)
c.525C>G (p.Pro175=)
c.*89C>G (n.*89C>G)
c.501C>G (p.Pro167=)
Xg.108085031G>TCA517921186PSMD10c.624C>A (p.Pro208=)
c.525C>A (p.Pro175=)
c.*89C>A (n.*89C>A)
c.501C>A (p.Pro167=)
Xg.108085032G>ACA413841601PSMD10c.623C>T (p.Pro208Leu)
c.524C>T (p.Pro175Leu)
c.*88C>T (n.*88C>T)
c.500C>T (p.Pro167Leu)
Xg.108085032G>CCA413841602PSMD10c.623C>G (p.Pro208Arg)
c.524C>G (p.Pro175Arg)
c.*88C>G (n.*88C>G)
c.500C>G (p.Pro167Arg)
Xg.108085032G>TCA413841603PSMD10c.623C>A (p.Pro208His)
c.524C>A (p.Pro175His)
c.*88C>A (n.*88C>A)
c.500C>A (p.Pro167His)
Xg.108085033G>ACA413841604PSMD10c.622C>T (p.Pro208Ser)
c.523C>T (p.Pro175Ser)
c.*87C>T (n.*87C>T)
c.499C>T (p.Pro167Ser)
gnomAD v4
Xg.108085033G>CCA413841605PSMD10c.622C>G (p.Pro208Ala)
c.523C>G (p.Pro175Ala)
c.*87C>G (n.*87C>G)
c.499C>G (p.Pro167Ala)
dbSNP gnomAD v2 gnomAD v4
Xg.108085033G=CA2450520328PSMD10c.622C= (p.Pro208=)
c.523C= (p.Pro175=)
c.*87C= (n.*87C=)
c.499C= (p.Pro167=)
Xg.108085033G>TCA413841606PSMD10c.622C>A (p.Pro208Thr)
c.523C>A (p.Pro175Thr)
c.*87C>A (n.*87C>A)
c.499C>A (p.Pro167Thr)
gnomAD v4
Xg.108085034T>ACA517921191PSMD10c.621A>T (p.Thr207=)
c.522A>T (p.Thr174=)
c.*86A>T (n.*86A>T)
c.498A>T (p.Thr166=)
Xg.108085034T>CCA517921190PSMD10c.621A>G (p.Thr207=)
c.522A>G (p.Thr174=)
c.*86A>G (n.*86A>G)
c.498A>G (p.Thr166=)
Xg.108085034T>GCA517921189PSMD10c.621A>C (p.Thr207=)
c.522A>C (p.Thr174=)
c.*86A>C (n.*86A>C)
c.498A>C (p.Thr166=)
Xg.108085035G>ACA413841609PSMD10c.620C>T (p.Thr207Ile)
c.521C>T (p.Thr174Ile)
c.*85C>T (n.*85C>T)
c.497C>T (p.Thr166Ile)
dbSNP
Xg.108085035G>CCA413841607PSMD10c.620C>G (p.Thr207Arg)
c.521C>G (p.Thr174Arg)
c.*85C>G (n.*85C>G)
c.497C>G (p.Thr166Arg)
Xg.108085035G=CA2450520329PSMD10c.620C= (p.Thr207=)
c.521C= (p.Thr174=)
c.*85C= (n.*85C=)
c.497C= (p.Thr166=)
Xg.108085035G>TCA413841608PSMD10c.620C>A (p.Thr207Lys)
c.521C>A (p.Thr174Lys)
c.*85C>A (n.*85C>A)
c.497C>A (p.Thr166Lys)
Xg.108085036T>ACA413841610PSMD10c.619A>T (p.Thr207Ser)
c.520A>T (p.Thr174Ser)
c.*84A>T (n.*84A>T)
c.496A>T (p.Thr166Ser)
Xg.108085036T>CCA413841611PSMD10c.619A>G (p.Thr207Ala)
c.520A>G (p.Thr174Ala)
c.*84A>G (n.*84A>G)
c.496A>G (p.Thr166Ala)
Xg.108085036T>GCA413841612PSMD10c.619A>C (p.Thr207Pro)
c.520A>C (p.Thr174Pro)
c.*84A>C (n.*84A>C)
c.496A>C (p.Thr166Pro)
Xg.108085037C>ACA413841613PSMD10c.618G>T (p.Lys206Asn)
c.519G>T (p.Lys173Asn)
c.*83G>T (n.*83G>T)
c.495G>T (p.Lys165Asn)
Xg.108085037C>GCA413841614PSMD10c.618G>C (p.Lys206Asn)
c.519G>C (p.Lys173Asn)
c.*83G>C (n.*83G>C)
c.495G>C (p.Lys165Asn)
dbSNP gnomAD v4
Xg.108085037C>TCA517921192PSMD10c.618G>A (p.Lys206=)
c.519G>A (p.Lys173=)
c.*83G>A (n.*83G>A)
c.495G>A (p.Lys165=)
Xg.108085038T>ACA413841617PSMD10c.617A>T (p.Lys206Met)
c.518A>T (p.Lys173Met)
c.*82A>T (n.*82A>T)
c.494A>T (p.Lys165Met)
Xg.108085038T>CCA413841615PSMD10c.617A>G (p.Lys206Arg)
c.518A>G (p.Lys173Arg)
c.*82A>G (n.*82A>G)
c.494A>G (p.Lys165Arg)
Xg.108085038T>GCA413841616PSMD10c.617A>C (p.Lys206Thr)
c.518A>C (p.Lys173Thr)
c.*82A>C (n.*82A>C)
c.494A>C (p.Lys165Thr)
Xg.108085039T>ACA413841618PSMD10c.616A>T (p.Lys206Ter)
c.517A>T (p.Lys173Ter)
c.*81A>T (n.*81A>T)
c.493A>T (p.Lys165Ter)
Xg.108085039T>CCA413841619PSMD10c.616A>G (p.Lys206Glu)
c.517A>G (p.Lys173Glu)
c.*81A>G (n.*81A>G)
c.493A>G (p.Lys165Glu)
Xg.108085039T>GCA413841620PSMD10c.616A>C (p.Lys206Gln)
c.517A>C (p.Lys173Gln)
c.*81A>C (n.*81A>C)
c.493A>C (p.Lys165Gln)
Xg.108085040T>ACA413841621PSMD10c.615A>T (p.Glu205Asp)
c.516A>T (p.Glu172Asp)
c.*80A>T (n.*80A>T)
c.492A>T (p.Glu164Asp)
Xg.108085040T>CCA517921193PSMD10c.615A>G (p.Glu205=)
c.516A>G (p.Glu172=)
c.*80A>G (n.*80A>G)
c.492A>G (p.Glu164=)
Xg.108085040T>GCA413841622PSMD10c.615A>C (p.Glu205Asp)
c.516A>C (p.Glu172Asp)
c.*80A>C (n.*80A>C)
c.492A>C (p.Glu164Asp)
Xg.108085041T>ACA413841623PSMD10c.614A>T (p.Glu205Val)
c.515A>T (p.Glu172Val)
c.*79A>T (n.*79A>T)
c.491A>T (p.Glu164Val)
Xg.108085041T>CCA413841624PSMD10c.614A>G (p.Glu205Gly)
c.515A>G (p.Glu172Gly)
c.*79A>G (n.*79A>G)
c.491A>G (p.Glu164Gly)
Xg.108085041T>GCA413841625PSMD10c.614A>C (p.Glu205Ala)
c.515A>C (p.Glu172Ala)
c.*79A>C (n.*79A>C)
c.491A>C (p.Glu164Ala)
Xg.108085042C>ACA413841626PSMD10c.613G>T (p.Glu205Ter)
c.514G>T (p.Glu172Ter)
c.*78G>T (n.*78G>T)
c.490G>T (p.Glu164Ter)
Xg.108085042C>GCA413841627PSMD10c.613G>C (p.Glu205Gln)
c.514G>C (p.Glu172Gln)
c.*78G>C (n.*78G>C)
c.490G>C (p.Glu164Gln)
Xg.108085042C>TCA413841628PSMD10c.613G>A (p.Glu205Lys)
c.514G>A (p.Glu172Lys)
c.*78G>A (n.*78G>A)
c.490G>A (p.Glu164Lys)
Xg.108085043T>ACA413841629PSMD10c.612A>T (p.Glu204Asp)
c.513A>T (p.Glu171Asp)
c.*77A>T (n.*77A>T)
c.489A>T (p.Glu163Asp)
Xg.108085043T>CCA517921194PSMD10c.612A>G (p.Glu204=)
c.513A>G (p.Glu171=)
c.*77A>G (n.*77A>G)
c.489A>G (p.Glu163=)
Xg.108085043T>GCA413841630PSMD10c.612A>C (p.Glu204Asp)
c.513A>C (p.Glu171Asp)
c.*77A>C (n.*77A>C)
c.489A>C (p.Glu163Asp)
Xg.108085044T>ACA413841631PSMD10c.611A>T (p.Glu204Val)
c.512A>T (p.Glu171Val)
c.*76A>T (n.*76A>T)
c.488A>T (p.Glu163Val)
gnomAD v4
Xg.108085044T>CCA413841633PSMD10c.611A>G (p.Glu204Gly)
c.512A>G (p.Glu171Gly)
c.*76A>G (n.*76A>G)
c.488A>G (p.Glu163Gly)
Xg.108085044T>GCA413841632PSMD10c.611A>C (p.Glu204Ala)
c.512A>C (p.Glu171Ala)
c.*76A>C (n.*76A>C)
c.488A>C (p.Glu163Ala)
Xg.108085045C>ACA413841634PSMD10c.610G>T (p.Glu204Ter)
c.511G>T (p.Glu171Ter)
c.*75G>T (n.*75G>T)
c.487G>T (p.Glu163Ter)
Xg.108085045C=CA2450520330PSMD10c.610G= (p.Glu204=)
c.511G= (p.Glu171=)
c.*75G= (n.*75G=)
c.487G= (p.Glu163=)
Xg.108085045C>GCA413841635PSMD10c.610G>C (p.Glu204Gln)
c.511G>C (p.Glu171Gln)
c.*75G>C (n.*75G>C)
c.487G>C (p.Glu163Gln)
Xg.108085045C>TCA10486667PSMD10c.610G>A (p.Glu204Lys)
c.511G>A (p.Glu171Lys)
c.*75G>A (n.*75G>A)
c.487G>A (p.Glu163Lys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108085046T>ACA413841636PSMD10c.609A>T (p.Lys203Asn)
c.510A>T (p.Lys170Asn)
c.*74A>T (n.*74A>T)
c.486A>T (p.Lys162Asn)
Xg.108085046T>CCA517921195PSMD10c.609A>G (p.Lys203=)
c.510A>G (p.Lys170=)
c.*74A>G (n.*74A>G)
c.486A>G (p.Lys162=)
Xg.108085046T>GCA413841637PSMD10c.609A>C (p.Lys203Asn)
c.510A>C (p.Lys170Asn)
c.*74A>C (n.*74A>C)
c.486A>C (p.Lys162Asn)
Xg.108085047T>ACA413841638PSMD10c.608A>T (p.Lys203Ile)
c.509A>T (p.Lys170Ile)
c.*73A>T (n.*73A>T)
c.485A>T (p.Lys162Ile)
Xg.108085047T>CCA413841639PSMD10c.608A>G (p.Lys203Arg)
c.509A>G (p.Lys170Arg)
c.*73A>G (n.*73A>G)
c.485A>G (p.Lys162Arg)
Xg.108085047T>GCA413841640PSMD10c.608A>C (p.Lys203Thr)
c.509A>C (p.Lys170Thr)
c.*73A>C (n.*73A>C)
c.485A>C (p.Lys162Thr)
Xg.108085048T>ACA413841641PSMD10c.607A>T (p.Lys203Ter)
c.508A>T (p.Lys170Ter)
c.*72A>T (n.*72A>T)
c.484A>T (p.Lys162Ter)
Xg.108085048T>CCA413841642PSMD10c.607A>G (p.Lys203Glu)
c.508A>G (p.Lys170Glu)
c.*72A>G (n.*72A>G)
c.484A>G (p.Lys162Glu)
Xg.108085048T>GCA413841643PSMD10c.607A>C (p.Lys203Gln)
c.508A>C (p.Lys170Gln)
c.*72A>C (n.*72A>C)
c.484A>C (p.Lys162Gln)
Xg.108085049A>CCA413841644PSMD10c.606T>G (p.Asn202Lys)
c.507T>G (p.Asn169Lys)
c.*71T>G (n.*71T>G)
c.483T>G (p.Asn161Lys)
Xg.108085049A>GCA517921196PSMD10c.606T>C (p.Asn202=)
c.507T>C (p.Asn169=)
c.*71T>C (n.*71T>C)
c.483T>C (p.Asn161=)
Xg.108085049A>TCA413841645PSMD10c.606T>A (p.Asn202Lys)
c.507T>A (p.Asn169Lys)
c.*71T>A (n.*71T>A)
c.483T>A (p.Asn161Lys)
Xg.108085050T>ACA413841648PSMD10c.605A>T (p.Asn202Ile)
c.506A>T (p.Asn169Ile)
c.*70A>T (n.*70A>T)
c.482A>T (p.Asn161Ile)
Xg.108085050T>CCA413841646PSMD10c.605A>G (p.Asn202Ser)
c.506A>G (p.Asn169Ser)
c.*70A>G (n.*70A>G)
c.482A>G (p.Asn161Ser)
dbSNP gnomAD v3 gnomAD v4
Xg.108085050T>GCA413841647PSMD10c.605A>C (p.Asn202Thr)
c.506A>C (p.Asn169Thr)
c.*70A>C (n.*70A>C)
c.482A>C (p.Asn161Thr)
Xg.108085050T=CA2450520331PSMD10c.605A= (p.Asn202=)
c.506A= (p.Asn169=)
c.*70A= (n.*70A=)
c.482A= (p.Asn161=)
Xg.108085051T>ACA413841649PSMD10c.604A>T (p.Asn202Tyr)
c.505A>T (p.Asn169Tyr)
c.*69A>T (n.*69A>T)
c.481A>T (p.Asn161Tyr)
Xg.108085051T>CCA413841650PSMD10c.604A>G (p.Asn202Asp)
c.505A>G (p.Asn169Asp)
c.*69A>G (n.*69A>G)
c.481A>G (p.Asn161Asp)
Xg.108085051T>GCA413841651PSMD10c.604A>C (p.Asn202His)
c.505A>C (p.Asn169His)
c.*69A>C (n.*69A>C)
c.481A>C (p.Asn161His)
Xg.108085052C>ACA413841652PSMD10c.603G>T (p.Glu201Asp)
c.504G>T (p.Glu168Asp)
c.*68G>T (n.*68G>T)
c.480G>T (p.Glu160Asp)
Xg.108085052C>GCA413841653PSMD10c.603G>C (p.Glu201Asp)
c.504G>C (p.Glu168Asp)
c.*68G>C (n.*68G>C)
c.480G>C (p.Glu160Asp)
Xg.108085052C>TCA517921197PSMD10c.603G>A (p.Glu201=)
c.504G>A (p.Glu168=)
c.*68G>A (n.*68G>A)
c.480G>A (p.Glu160=)
gnomAD v4
Xg.108085053T>ACA413841654PSMD10c.602A>T (p.Glu201Val)
c.503A>T (p.Glu168Val)
c.*67A>T (n.*67A>T)
c.479A>T (p.Glu160Val)
Xg.108085053T>CCA413841655PSMD10c.602A>G (p.Glu201Gly)
c.503A>G (p.Glu168Gly)
c.*67A>G (n.*67A>G)
c.479A>G (p.Glu160Gly)
Xg.108085053T>GCA413841656PSMD10c.602A>C (p.Glu201Ala)
c.503A>C (p.Glu168Ala)
c.*67A>C (n.*67A>C)
c.479A>C (p.Glu160Ala)
Xg.108085054C>ACA413841657PSMD10c.601G>T (p.Glu201Ter)
c.502G>T (p.Glu168Ter)
c.*66G>T (n.*66G>T)
c.478G>T (p.Glu160Ter)
Xg.108085054C>GCA413841658PSMD10c.601G>C (p.Glu201Gln)
c.502G>C (p.Glu168Gln)
c.*66G>C (n.*66G>C)
c.478G>C (p.Glu160Gln)
Xg.108085054C>TCA413841659PSMD10c.601G>A (p.Glu201Lys)
c.502G>A (p.Glu168Lys)
c.*66G>A (n.*66G>A)
c.478G>A (p.Glu160Lys)
Xg.108085055A>CCA413841660PSMD10c.600T>G (p.Ile200Met)
c.501T>G (p.Ile167Met)
c.*65T>G (n.*65T>G)
c.477T>G (p.Ile159Met)
Xg.108085055A>GCA517921198PSMD10c.600T>C (p.Ile200=)
c.501T>C (p.Ile167=)
c.*65T>C (n.*65T>C)
c.477T>C (p.Ile159=)
gnomAD v4
Xg.108085055A>TCA517921199PSMD10c.600T>A (p.Ile200=)
c.501T>A (p.Ile167=)
c.*65T>A (n.*65T>A)
c.477T>A (p.Ile159=)
Xg.108085056A=CA2450520332PSMD10c.599T= (p.Ile200=)
c.500T= (p.Ile167=)
c.*64T= (n.*64T=)
c.476T= (p.Ile159=)
Xg.108085056A>CCA413841661PSMD10c.599T>G (p.Ile200Ser)
c.500T>G (p.Ile167Ser)
c.*64T>G (n.*64T>G)
c.476T>G (p.Ile159Ser)
Xg.108085056A>GCA10486668PSMD10c.599T>C (p.Ile200Thr)
c.500T>C (p.Ile167Thr)
c.*64T>C (n.*64T>C)
c.476T>C (p.Ile159Thr)
dbSNP ExAC gnomAD v3 gnomAD v4
Xg.108085056A>TCA413841662PSMD10c.599T>A (p.Ile200Asn)
c.500T>A (p.Ile167Asn)
c.*64T>A (n.*64T>A)
c.476T>A (p.Ile159Asn)
Xg.108085057T>ACA413841663PSMD10c.598A>T (p.Ile200Phe)
c.499A>T (p.Ile167Phe)
c.*63A>T (n.*63A>T)
c.475A>T (p.Ile159Phe)
Xg.108085057T>CCA413841665PSMD10c.598A>G (p.Ile200Val)
c.499A>G (p.Ile167Val)
c.*63A>G (n.*63A>G)
c.475A>G (p.Ile159Val)
Xg.108085057T>GCA413841664PSMD10c.598A>C (p.Ile200Leu)
c.499A>C (p.Ile167Leu)
c.*63A>C (n.*63A>C)
c.475A>C (p.Ile159Leu)
Xg.108085058G>ACA517921200PSMD10c.597C>T (p.Tyr199=)
c.498C>T (p.Tyr166=)
c.*62C>T (n.*62C>T)
c.474C>T (p.Tyr158=)
Xg.108085058G>CCA413841666PSMD10c.597C>G (p.Tyr199Ter)
c.498C>G (p.Tyr166Ter)
c.*62C>G (n.*62C>G)
c.474C>G (p.Tyr158Ter)
Xg.108085058G>TCA413841667PSMD10c.597C>A (p.Tyr199Ter)
c.498C>A (p.Tyr166Ter)
c.*62C>A (n.*62C>A)
c.474C>A (p.Tyr158Ter)
Xg.108085059T>ACA413841668PSMD10c.596A>T (p.Tyr199Phe)
c.497A>T (p.Tyr166Phe)
c.*61A>T (n.*61A>T)
c.473A>T (p.Tyr158Phe)
Xg.108085059T>CCA413841669PSMD10c.596A>G (p.Tyr199Cys)
c.497A>G (p.Tyr166Cys)
c.*61A>G (n.*61A>G)
c.473A>G (p.Tyr158Cys)
Xg.108085059T>GCA413841670PSMD10c.596A>C (p.Tyr199Ser)
c.497A>C (p.Tyr166Ser)
c.*61A>C (n.*61A>C)
c.473A>C (p.Tyr158Ser)
Xg.108085060A>CCA413841671PSMD10c.595T>G (p.Tyr199Asp)
c.496T>G (p.Tyr166Asp)
c.*60T>G (n.*60T>G)
c.472T>G (p.Tyr158Asp)
Xg.108085060A>GCA413841672PSMD10c.595T>C (p.Tyr199His)
c.496T>C (p.Tyr166His)
c.*60T>C (n.*60T>C)
c.472T>C (p.Tyr158His)
Xg.108085060A>TCA413841673PSMD10c.595T>A (p.Tyr199Asn)
c.496T>A (p.Tyr166Asn)
c.*60T>A (n.*60T>A)
c.472T>A (p.Tyr158Asn)
Xg.108085061A>CCA413841674PSMD10c.594T>G (p.Ile198Met)
c.495T>G (p.Ile165Met)
c.*59T>G (n.*59T>G)
c.471T>G (p.Ile157Met)
Xg.108085061A>GCA517921201PSMD10c.594T>C (p.Ile198=)
c.495T>C (p.Ile165=)
c.*59T>C (n.*59T>C)
c.471T>C (p.Ile157=)
Xg.108085061A>TCA517921202PSMD10c.594T>A (p.Ile198=)
c.495T>A (p.Ile165=)
c.*59T>A (n.*59T>A)
c.471T>A (p.Ile157=)
Xg.108085062A>CCA413841675PSMD10c.593T>G (p.Ile198Ser)
c.494T>G (p.Ile165Ser)
c.*58T>G (n.*58T>G)
c.470T>G (p.Ile157Ser)
Xg.108085062A>GCA413841676PSMD10c.593T>C (p.Ile198Thr)
c.494T>C (p.Ile165Thr)
c.*58T>C (n.*58T>C)
c.470T>C (p.Ile157Thr)
gnomAD v4
Xg.108085062A>TCA413841677PSMD10c.593T>A (p.Ile198Asn)
c.494T>A (p.Ile165Asn)
c.*58T>A (n.*58T>A)
c.470T>A (p.Ile157Asn)
Xg.108085063T>ACA413841680PSMD10c.592A>T (p.Ile198Phe)
c.493A>T (p.Ile165Phe)
c.*57A>T (n.*57A>T)
c.469A>T (p.Ile157Phe)
Xg.108085063T>CCA413841678PSMD10c.592A>G (p.Ile198Val)
c.493A>G (p.Ile165Val)
c.*57A>G (n.*57A>G)
c.469A>G (p.Ile157Val)
Xg.108085063T>GCA413841679PSMD10c.592A>C (p.Ile198Leu)
c.493A>C (p.Ile165Leu)
c.*57A>C (n.*57A>C)
c.469A>C (p.Ile157Leu)
Xg.108085064A>CCA413841681PSMD10c.591T>G (p.Ser197Arg)
c.492T>G (p.Ser164Arg)
c.*56T>G (n.*56T>G)
c.468T>G (p.Ser156Arg)
Xg.108085064A>GCA517921203PSMD10c.591T>C (p.Ser197=)
c.492T>C (p.Ser164=)
c.*56T>C (n.*56T>C)
c.468T>C (p.Ser156=)
Xg.108085064A>TCA413841682PSMD10c.591T>A (p.Ser197Arg)
c.492T>A (p.Ser164Arg)
c.*56T>A (n.*56T>A)
c.468T>A (p.Ser156Arg)
Xg.108085065C>ACA413841683PSMD10c.590G>T (p.Ser197Ile)
c.491G>T (p.Ser164Ile)
c.*55G>T (n.*55G>T)
c.467G>T (p.Ser156Ile)
Xg.108085065C>GCA413841684PSMD10c.590G>C (p.Ser197Thr)
c.491G>C (p.Ser164Thr)
c.*55G>C (n.*55G>C)
c.467G>C (p.Ser156Thr)
Xg.108085065C>TCA413841685PSMD10c.590G>A (p.Ser197Asn)
c.491G>A (p.Ser164Asn)
c.*55G>A (n.*55G>A)
c.467G>A (p.Ser156Asn)
Xg.108085066T>ACA413841686PSMD10c.589A>T (p.Ser197Cys)
c.490A>T (p.Ser164Cys)
c.*54A>T (n.*54A>T)
c.466A>T (p.Ser156Cys)
Xg.108085066T>CCA413841687PSMD10c.589A>G (p.Ser197Gly)
c.490A>G (p.Ser164Gly)
c.*54A>G (n.*54A>G)
c.466A>G (p.Ser156Gly)
Xg.108085066T>GCA413841688PSMD10c.589A>C (p.Ser197Arg)
c.490A>C (p.Ser164Arg)
c.*54A>C (n.*54A>C)
c.466A>C (p.Ser156Arg)
Xg.108085067T>ACA517921204PSMD10c.588A>T (p.Ala196=)
c.489A>T (p.Ala163=)
c.*53A>T (n.*53A>T)
c.465A>T (p.Ala155=)
Xg.108085067T>CCA517921205PSMD10c.588A>G (p.Ala196=)
c.489A>G (p.Ala163=)
c.*53A>G (n.*53A>G)
c.465A>G (p.Ala155=)
Xg.108085067T>GCA517921206PSMD10c.588A>C (p.Ala196=)
c.489A>C (p.Ala163=)
c.*53A>C (n.*53A>C)
c.465A>C (p.Ala155=)
Xg.108085068G>ACA413841689PSMD10c.587C>T (p.Ala196Val)
c.488C>T (p.Ala163Val)
c.*52C>T (n.*52C>T)
c.464C>T (p.Ala155Val)
Xg.108085068G>CCA413841690PSMD10c.587C>G (p.Ala196Gly)
c.488C>G (p.Ala163Gly)
c.*52C>G (n.*52C>G)
c.464C>G (p.Ala155Gly)
Xg.108085068G>TCA413841691PSMD10c.587C>A (p.Ala196Glu)
c.488C>A (p.Ala163Glu)
c.*52C>A (n.*52C>A)
c.464C>A (p.Ala155Glu)
gnomAD v4
Xg.108085069C>ACA413841694PSMD10c.586G>T (p.Ala196Ser)
c.487G>T (p.Ala163Ser)
c.*51G>T (n.*51G>T)
c.463G>T (p.Ala155Ser)
Xg.108085069C=CA2450520333PSMD10c.586G= (p.Ala196=)
c.487G= (p.Ala163=)
c.*51G= (n.*51G=)
c.463G= (p.Ala155=)
Xg.108085069C>GCA413841693PSMD10c.586G>C (p.Ala196Pro)
c.487G>C (p.Ala163Pro)
c.*51G>C (n.*51G>C)
c.463G>C (p.Ala155Pro)
Xg.108085069C>TCA413841692PSMD10c.586G>A (p.Ala196Thr)
c.487G>A (p.Ala163Thr)
c.*51G>A (n.*51G>A)
c.463G>A (p.Ala155Thr)
dbSNP gnomAD v3 gnomAD v4
Xg.108085070T>ACA517921207PSMD10c.585A>T (p.Gly195=)
c.486A>T (p.Gly162=)
c.*50A>T (n.*50A>T)
c.462A>T (p.Gly154=)
Xg.108085070T>CCA517921209PSMD10c.585A>G (p.Gly195=)
c.486A>G (p.Gly162=)
c.*50A>G (n.*50A>G)
c.462A>G (p.Gly154=)
Xg.108085070T>GCA517921208PSMD10c.585A>C (p.Gly195=)
c.486A>C (p.Gly162=)
c.*50A>C (n.*50A>C)
c.462A>C (p.Gly154=)
Xg.108085071C>ACA413841695PSMD10c.584G>T (p.Gly195Val)
c.485G>T (p.Gly162Val)
c.*49G>T (n.*49G>T)
c.461G>T (p.Gly154Val)
Xg.108085071C>GCA413841696PSMD10c.584G>C (p.Gly195Ala)
c.485G>C (p.Gly162Ala)
c.*49G>C (n.*49G>C)
c.461G>C (p.Gly154Ala)
Xg.108085071C>TCA413841697PSMD10c.584G>A (p.Gly195Glu)
c.485G>A (p.Gly162Glu)
c.*49G>A (n.*49G>A)
c.461G>A (p.Gly154Glu)
Xg.108085072C>ACA413841698PSMD10c.583G>T (p.Gly195Ter)
c.484G>T (p.Gly162Ter)
c.*48G>T (n.*48G>T)
c.460G>T (p.Gly154Ter)
Xg.108085072C>GCA413841699PSMD10c.583G>C (p.Gly195Arg)
c.484G>C (p.Gly162Arg)
c.*48G>C (n.*48G>C)
c.460G>C (p.Gly154Arg)
Xg.108085072C>TCA413841700PSMD10c.583G>A (p.Gly195Arg)
c.484G>A (p.Gly162Arg)
c.*48G>A (n.*48G>A)
c.460G>A (p.Gly154Arg)
COSMIC
Xg.108085073T>ACA413841701PSMD10c.582A>T (p.Gln194His)
c.483A>T (p.Gln161His)
c.*47A>T (n.*47A>T)
c.459A>T (p.Gln153His)
Xg.108085073T>CCA10486670PSMD10c.582A>G (p.Gln194=)
c.483A>G (p.Gln161=)
c.*47A>G (n.*47A>G)
c.459A>G (p.Gln153=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108085073T>GCA10486669PSMD10c.582A>C (p.Gln194His)
c.483A>C (p.Gln161His)
c.*47A>C (n.*47A>C)
c.459A>C (p.Gln153His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108085073T=CA2450520334PSMD10c.582A= (p.Gln194=)
c.483A= (p.Gln161=)
c.*47A= (n.*47A=)
c.459A= (p.Gln153=)
Xg.108085074T>ACA413841702PSMD10c.581A>T (p.Gln194Leu)
c.482A>T (p.Gln161Leu)
c.*46A>T (n.*46A>T)
c.458A>T (p.Gln153Leu)
Xg.108085074T>CCA413841703PSMD10c.581A>G (p.Gln194Arg)
c.482A>G (p.Gln161Arg)
c.*46A>G (n.*46A>G)
c.458A>G (p.Gln153Arg)
Xg.108085074T>GCA413841704PSMD10c.581A>C (p.Gln194Pro)
c.482A>C (p.Gln161Pro)
c.*46A>C (n.*46A>C)
c.458A>C (p.Gln153Pro)
Xg.108085075G>ACA413841707PSMD10c.580C>T (p.Gln194Ter)
c.481C>T (p.Gln161Ter)
c.*45C>T (n.*45C>T)
c.457C>T (p.Gln153Ter)
Xg.108085075G>CCA413841706PSMD10c.580C>G (p.Gln194Glu)
c.481C>G (p.Gln161Glu)
c.*45C>G (n.*45C>G)
c.457C>G (p.Gln153Glu)
Xg.108085075G>TCA413841705PSMD10c.580C>A (p.Gln194Lys)
c.481C>A (p.Gln161Lys)
c.*45C>A (n.*45C>A)
c.457C>A (p.Gln153Lys)
Xg.108085076G>ACA517921210PSMD10c.579C>T (p.Ser193=)
c.480C>T (p.Ser160=)
c.*44C>T (n.*44C>T)
c.456C>T (p.Ser152=)
Xg.108085076G>CCA517921211PSMD10c.579C>G (p.Ser193=)
c.480C>G (p.Ser160=)
c.*44C>G (n.*44C>G)
c.456C>G (p.Ser152=)
Xg.108085076G>TCA517921212PSMD10c.579C>A (p.Ser193=)
c.480C>A (p.Ser160=)
c.*44C>A (n.*44C>A)
c.456C>A (p.Ser152=)
Xg.108085077G>ACA413841708PSMD10c.578C>T (p.Ser193Phe)
c.479C>T (p.Ser160Phe)
c.*43C>T (n.*43C>T)
c.455C>T (p.Ser152Phe)
gnomAD v4
Xg.108085077G>CCA413841709PSMD10c.578C>G (p.Ser193Cys)
c.479C>G (p.Ser160Cys)
c.*43C>G (n.*43C>G)
c.455C>G (p.Ser152Cys)
Xg.108085077G>TCA413841710PSMD10c.578C>A (p.Ser193Tyr)
c.479C>A (p.Ser160Tyr)
c.*43C>A (n.*43C>A)
c.455C>A (p.Ser152Tyr)
Xg.108085078A>CCA413841711PSMD10c.577T>G (p.Ser193Ala)
c.478T>G (p.Ser160Ala)
c.*42T>G (n.*42T>G)
c.454T>G (p.Ser152Ala)
Xg.108085078A>GCA413841712PSMD10c.577T>C (p.Ser193Pro)
c.478T>C (p.Ser160Pro)
c.*42T>C (n.*42T>C)
c.454T>C (p.Ser152Pro)
Xg.108085078A>TCA413841713PSMD10c.577T>A (p.Ser193Thr)
c.478T>A (p.Ser160Thr)
c.*42T>A (n.*42T>A)
c.454T>A (p.Ser152Thr)
Xg.108085079C>ACA517921215PSMD10c.576G>T (p.Val192=)
c.477G>T (p.Val159=)
c.*41G>T (n.*41G>T)
c.453G>T (p.Val151=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108085079C=CA2450520335PSMD10c.576G= (p.Val192=)
c.477G= (p.Val159=)
c.*41G= (n.*41G=)
c.453G= (p.Val151=)
Xg.108085079C>GCA517921213PSMD10c.576G>C (p.Val192=)
c.477G>C (p.Val159=)
c.*41G>C (n.*41G>C)
c.453G>C (p.Val151=)
Xg.108085079C>TCA517921214PSMD10c.576G>A (p.Val192=)
c.477G>A (p.Val159=)
c.*41G>A (n.*41G>A)
c.453G>A (p.Val151=)
gnomAD v4
Xg.108085080A>CCA413841714PSMD10c.575T>G (p.Val192Gly)
c.476T>G (p.Val159Gly)
c.*40T>G (n.*40T>G)
c.452T>G (p.Val151Gly)
Xg.108085080A>GCA413841715PSMD10c.575T>C (p.Val192Ala)
c.476T>C (p.Val159Ala)
c.*40T>C (n.*40T>C)
c.452T>C (p.Val151Ala)
Xg.108085080A>TCA413841716PSMD10c.575T>A (p.Val192Glu)
c.476T>A (p.Val159Glu)
c.*40T>A (n.*40T>A)
c.452T>A (p.Val151Glu)
Xg.108085081C>ACA10486671PSMD10c.574G>T (p.Val192Leu)
c.475G>T (p.Val159Leu)
c.*39G>T (n.*39G>T)
c.451G>T (p.Val151Leu)
dbSNP ExAC gnomAD v2
Xg.108085081C=CA2450520336PSMD10c.574G= (p.Val192=)
c.475G= (p.Val159=)
c.*39G= (n.*39G=)
c.451G= (p.Val151=)
Xg.108085081C>GCA413841717PSMD10c.574G>C (p.Val192Leu)
c.475G>C (p.Val159Leu)
c.*39G>C (n.*39G>C)
c.451G>C (p.Val151Leu)
Xg.108085081C>TCA10486672PSMD10c.574G>A (p.Val192Met)
c.475G>A (p.Val159Met)
c.*39G>A (n.*39G>A)
c.451G>A (p.Val151Met)
dbSNP ExAC
Xg.108085082C>ACA10486673PSMD10c.573G>T (p.Leu191=)
c.474G>T (p.Leu158=)
c.*38G>T (n.*38G>T)
c.450G>T (p.Leu150=)
dbSNP ExAC gnomAD v2 COSMIC
Xg.108085082C=CA2450520337PSMD10c.573G= (p.Leu191=)
c.474G= (p.Leu158=)
c.*38G= (n.*38G=)
c.450G= (p.Leu150=)
Xg.108085082C>GCA517921216PSMD10c.573G>C (p.Leu191=)
c.474G>C (p.Leu158=)
c.*38G>C (n.*38G>C)
c.450G>C (p.Leu150=)
Xg.108085082C>TCA517921217PSMD10c.573G>A (p.Leu191=)
c.474G>A (p.Leu158=)
c.*38G>A (n.*38G>A)
c.450G>A (p.Leu150=)
Xg.108085083A>CCA413841720PSMD10c.572T>G (p.Leu191Arg)
c.473T>G (p.Leu158Arg)
c.*37T>G (n.*37T>G)
c.449T>G (p.Leu150Arg)
Xg.108085083A>GCA413841719PSMD10c.572T>C (p.Leu191Pro)
c.473T>C (p.Leu158Pro)
c.*37T>C (n.*37T>C)
c.449T>C (p.Leu150Pro)
Xg.108085083A>TCA413841718PSMD10c.572T>A (p.Leu191Gln)
c.473T>A (p.Leu158Gln)
c.*37T>A (n.*37T>A)
c.449T>A (p.Leu150Gln)
Xg.108085084G>ACA517921218PSMD10c.571C>T (p.Leu191=)
c.472C>T (p.Leu158=)
c.*36C>T (n.*36C>T)
c.448C>T (p.Leu150=)
gnomAD v4
Xg.108085084G>CCA413841721PSMD10c.571C>G (p.Leu191Val)
c.472C>G (p.Leu158Val)
c.*36C>G (n.*36C>G)
c.448C>G (p.Leu150Val)
Xg.108085084G>TCA413841722PSMD10c.571C>A (p.Leu191Met)
c.472C>A (p.Leu158Met)
c.*36C>A (n.*36C>A)
c.448C>A (p.Leu150Met)
Xg.108085085C>ACA10486674PSMD10c.570G>T (p.Leu190=)
c.471G>T (p.Leu157=)
c.*35G>T (n.*35G>T)
c.447G>T (p.Leu149=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108085085C=CA2450520338PSMD10c.570G= (p.Leu190=)
c.471G= (p.Leu157=)
c.*35G= (n.*35G=)
c.447G= (p.Leu149=)
Xg.108085085C>GCA517921219PSMD10c.570G>C (p.Leu190=)
c.471G>C (p.Leu157=)
c.*35G>C (n.*35G>C)
c.447G>C (p.Leu149=)
Xg.108085085C>TCA517921220PSMD10c.570G>A (p.Leu190=)
c.471G>A (p.Leu157=)
c.*35G>A (n.*35G>A)
c.447G>A (p.Leu149=)

Number of alleles fetched