Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108084936A>GCA2694424280PSMD10c.*38T>C (n.*38T>C)
c.620T>C (n.620T>C)
c.*184T>C (n.*184T>C)
gnomAD v4
Xg.108084942_108084946delCA2694424279PSMD10c.*34_*38del (n.*34_*38del)
c.616_620del (n.616_620del)
c.*180_*184del (n.*180_*184del)
gnomAD v4
Xg.108084936_108084937insACAACCCAAACACACCCA2822885169PSMD10c.*37_*38insGGTGTGTTTGGGTTGT (n.*37_*38insGGTGTGTTTGGGTTGT)
c.619_620insGGTGTGTTTGGGTTGT (n.619_620insGGTGTGTTTGGGTTGT)
c.*183_*184insGGTGTGTTTGGGTTGT (n.*183_*184insGGTGTGTTTGGGTTGT)
Xg.108084937C>ACA2694424281PSMD10c.*37G>T (n.*37G>T)
c.619G>T (n.619G>T)
c.*183G>T (n.*183G>T)
gnomAD v4
Xg.108084938A>CCA2694424282PSMD10c.*36T>G (n.*36T>G)
c.618T>G (n.618T>G)
c.*182T>G (n.*182T>G)
gnomAD v4
Xg.108084939A>CCA2694424283PSMD10c.*35T>G (n.*35T>G)
c.617T>G (n.617T>G)
c.*181T>G (n.*181T>G)
gnomAD v4
Xg.108084940C>ACA2694424284PSMD10c.*34G>T (n.*34G>T)
c.616G>T (n.616G>T)
c.*180G>T (n.*180G>T)
gnomAD v4
Xg.108084940_108084942delCA2547093977PSMD10c.*32_*34del (n.*32_*34del)
c.614_616del (n.614_616del)
c.*178_*180del (n.*178_*180del)
Xg.108084942C>ACA2550563814PSMD10c.*32G>T (n.*32G>T)
c.614G>T (n.614G>T)
c.*178G>T (n.*178G>T)
gnomAD v4
Xg.108084943A=CA2450520302PSMD10c.*31T= (n.*31T=)
c.613T= (n.613T=)
c.*177T= (n.*177T=)
Xg.108084943A>GCA643631640PSMD10c.*31T>C (n.*31T>C)
c.613T>C (n.613T>C)
c.*177T>C (n.*177T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108084944delCA2579673972PSMD10c.*31del (n.*31del)
c.613del (n.613del)
c.*177del (n.*177del)
gnomAD v4
Xg.108084944A>GCA2694424285PSMD10c.*30T>C (n.*30T>C)
c.612T>C (n.612T>C)
c.*176T>C (n.*176T>C)
gnomAD v4
Xg.108084945C>ACA2450520304PSMD10c.*29G>T (n.*29G>T)
c.611G>T (n.611G>T)
c.*175G>T (n.*175G>T)
dbSNP gnomAD v4
Xg.108084945C=CA2450520303PSMD10c.*29G= (n.*29G=)
c.611G= (n.611G=)
c.*175G= (n.*175G=)
Xg.108084946A=CA2450520305PSMD10c.*28T= (n.*28T=)
c.610T= (n.610T=)
c.*174T= (n.*174T=)
Xg.108084946A>CCA10486658PSMD10c.*28T>G (n.*28T>G)
c.610T>G (n.610T>G)
c.*174T>G (n.*174T>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108084946A>GCA2694424286PSMD10c.*28T>C (n.*28T>C)
c.610T>C (n.610T>C)
c.*174T>C (n.*174T>C)
gnomAD v4
Xg.108084947T>CCA2694424287PSMD10c.*27A>G (n.*27A>G)
c.609A>G (n.609A>G)
c.*173A>G (n.*173A>G)
gnomAD v4
Xg.108084948dupCA2531325960PSMD10c.*26dup (n.*26dup)
c.608dup (n.608dup)
c.*172dup (n.*172dup)
Xg.108084950A>GCA2694424288PSMD10c.*24T>C (n.*24T>C)
c.606T>C (n.606T>C)
c.*170T>C (n.*170T>C)
gnomAD v4
Xg.108084951A>GCA2694424289PSMD10c.*23T>C (n.*23T>C)
c.605T>C (n.605T>C)
c.*169T>C (n.*169T>C)
gnomAD v4
Xg.108084954T>ACA2694424290PSMD10c.*20A>T (n.*20A>T)
c.602A>T (n.602A>T)
c.*166A>T (n.*166A>T)
gnomAD v4
Xg.108084954T>GCA2549659407PSMD10c.*20A>C (n.*20A>C)
c.602A>C (n.602A>C)
c.*166A>C (n.*166A>C)
gnomAD v4
Xg.108084954dupCA2579673973PSMD10c.*20dup (n.*20dup)
c.602dup (n.602dup)
c.*166dup (n.*166dup)
gnomAD v4
Xg.108084960T>CCA10486659PSMD10c.*14A>G (n.*14A>G)
c.596A>G (n.596A>G)
c.*160A>G (n.*160A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108084960T=CA2450520306PSMD10c.*14A= (n.*14A=)
c.596A= (n.596A=)
c.*160A= (n.*160A=)
Xg.108084962A>GCA2694424291PSMD10c.*12T>C (n.*12T>C)
c.594T>C (n.594T>C)
c.*158T>C (n.*158T>C)
gnomAD v4
Xg.108084962_108084965delCA2694424292PSMD10c.*9_*12del (n.*9_*12del)
c.591_594del (n.591_594del)
c.*155_*158del (n.*155_*158del)
gnomAD v4
Xg.108084964T>CCA2450520308PSMD10c.*10A>G (n.*10A>G)
c.592A>G (n.592A>G)
c.*156A>G (n.*156A>G)
dbSNP
Xg.108084964T=CA2450520307PSMD10c.*10A= (n.*10A=)
c.592A= (n.592A=)
c.*156A= (n.*156A=)
Xg.108084965C>ACA2572030798PSMD10c.*9G>T (n.*9G>T)
c.591G>T (n.591G>T)
c.*155G>T (n.*155G>T)
gnomAD v4
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.108084967A>TCA2694424293PSMD10c.*7T>A (n.*7T>A)
c.589T>A (n.589T>A)
c.*153T>A (n.*153T>A)
gnomAD v4
Xg.108084968A=CA2450520309PSMD10c.*6T= (n.*6T=)
c.588T= (n.588T=)
c.*152T= (n.*152T=)
Xg.108084968A>GCA10486660PSMD10c.*6T>C (n.*6T>C)
c.588T>C (n.588T>C)
c.*152T>C (n.*152T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108084969G>ACA2694424294PSMD10c.*5C>T (n.*5C>T)
c.587C>T (n.587C>T)
c.*151C>T (n.*151C>T)
gnomAD v4
Xg.108084972G>CCA10486661PSMD10c.*2C>G (n.*2C>G)
c.584C>G (n.584C>G)
c.*148C>G (n.*148C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108084972G=CA2450520310PSMD10c.*2C= (n.*2C=)
c.584C= (n.584C=)
c.*148C= (n.*148C=)
Xg.108084972G>TCA2694424295PSMD10c.*2C>A (n.*2C>A)
c.584C>A (n.584C>A)
c.*148C>A (n.*148C>A)
gnomAD v4
Xg.108084973T>CCA2539875271PSMD10c.*1A>G (n.*1A>G)
c.583A>G (n.583A>G)
c.*147A>G (n.*147A>G)
Xg.108084974T>ACA413841478PSMD10c.681A>T (p.Ter227Tyr)
c.582A>T (p.Ter194Tyr)
c.*146A>T (n.*146A>T)
c.558A>T (p.Ter186Tyr)
Xg.108084974T>CCA517921143PSMD10c.681A>G (p.Ter227=)
c.582A>G (p.Ter194=)
c.*146A>G (n.*146A>G)
c.558A>G (p.Ter186=)
Xg.108084974T>GCA413841479PSMD10c.681A>C (p.Ter227Tyr)
c.582A>C (p.Ter194Tyr)
c.*146A>C (n.*146A>C)
c.558A>C (p.Ter186Tyr)
Xg.108084975T>ACA413841480PSMD10c.680A>T (p.Ter227Leu)
c.581A>T (p.Ter194Leu)
c.*145A>T (n.*145A>T)
c.557A>T (p.Ter186Leu)
Xg.108084975T>CCA517921144PSMD10c.680A>G (p.Ter227=)
c.581A>G (p.Ter194=)
c.*145A>G (n.*145A>G)
c.557A>G (p.Ter186=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108084975T>GCA413841481PSMD10c.680A>C (p.Ter227Ser)
c.581A>C (p.Ter194Ser)
c.*145A>C (n.*145A>C)
c.557A>C (p.Ter186Ser)
Xg.108084975T=CA2450520311PSMD10c.680A= (p.Ter227=)
c.581A= (p.Ter194=)
c.*145A= (n.*145A=)
c.557A= (p.Ter186=)
Xg.108084976A>CCA413841482PSMD10c.679T>G (p.Ter227Glu)
c.580T>G (p.Ter194Glu)
c.*144T>G (n.*144T>G)
c.556T>G (p.Ter186Glu)
Xg.108084976A>GCA413841483PSMD10c.679T>C (p.Ter227Gln)
c.580T>C (p.Ter194Gln)
c.*144T>C (n.*144T>C)
c.556T>C (p.Ter186Gln)
Xg.108084976A>TCA413841484PSMD10c.679T>A (p.Ter227Lys)
c.580T>A (p.Ter194Lys)
c.*144T>A (n.*144T>A)
c.556T>A (p.Ter186Lys)
Xg.108084977A>CCA517921147PSMD10c.678T>G (p.Gly226=)
c.579T>G (p.Gly193=)
c.*143T>G (n.*143T>G)
c.555T>G (p.Gly185=)
Xg.108084977A>GCA517921145PSMD10c.678T>C (p.Gly226=)
c.579T>C (p.Gly193=)
c.*143T>C (n.*143T>C)
c.555T>C (p.Gly185=)
Xg.108084977A>TCA517921146PSMD10c.678T>A (p.Gly226=)
c.579T>A (p.Gly193=)
c.*143T>A (n.*143T>A)
c.555T>A (p.Gly185=)
Xg.108084978C>ACA413841486PSMD10c.677G>T (p.Gly226Val)
c.578G>T (p.Gly193Val)
c.*142G>T (n.*142G>T)
c.554G>T (p.Gly185Val)
Xg.108084978C=CA2450520312PSMD10c.677G= (p.Gly226=)
c.578G= (p.Gly193=)
c.*142G= (n.*142G=)
c.554G= (p.Gly185=)
Xg.108084978C>GCA413841485PSMD10c.677G>C (p.Gly226Ala)
c.578G>C (p.Gly193Ala)
c.*142G>C (n.*142G>C)
c.554G>C (p.Gly185Ala)
Xg.108084978C>TCA10486662PSMD10c.677G>A (p.Gly226Asp)
c.578G>A (p.Gly193Asp)
c.*142G>A (n.*142G>A)
c.554G>A (p.Gly185Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108084979C>ACA413841487PSMD10c.676G>T (p.Gly226Cys)
c.577G>T (p.Gly193Cys)
c.*141G>T (n.*141G>T)
c.553G>T (p.Gly185Cys)
COSMIC
Xg.108084979C>GCA413841488PSMD10c.676G>C (p.Gly226Arg)
c.577G>C (p.Gly193Arg)
c.*141G>C (n.*141G>C)
c.553G>C (p.Gly185Arg)
Xg.108084979C>TCA413841489PSMD10c.676G>A (p.Gly226Ser)
c.577G>A (p.Gly193Ser)
c.*141G>A (n.*141G>A)
c.553G>A (p.Gly185Ser)
Xg.108084980T>ACA413841490PSMD10c.675A>T (p.Glu225Asp)
c.576A>T (p.Glu192Asp)
c.*140A>T (n.*140A>T)
c.552A>T (p.Glu184Asp)
Xg.108084980T>CCA517921148PSMD10c.675A>G (p.Glu225=)
c.576A>G (p.Glu192=)
c.*140A>G (n.*140A>G)
c.552A>G (p.Glu184=)
Xg.108084980T>GCA413841491PSMD10c.675A>C (p.Glu225Asp)
c.576A>C (p.Glu192Asp)
c.*140A>C (n.*140A>C)
c.552A>C (p.Glu184Asp)
Xg.108084981T>ACA413841492PSMD10c.674A>T (p.Glu225Val)
c.575A>T (p.Glu192Val)
c.*139A>T (n.*139A>T)
c.551A>T (p.Glu184Val)
Xg.108084981T>CCA413841494PSMD10c.674A>G (p.Glu225Gly)
c.575A>G (p.Glu192Gly)
c.*139A>G (n.*139A>G)
c.551A>G (p.Glu184Gly)
Xg.108084981T>GCA413841493PSMD10c.674A>C (p.Glu225Ala)
c.575A>C (p.Glu192Ala)
c.*139A>C (n.*139A>C)
c.551A>C (p.Glu184Ala)
Xg.108084982C>ACA413841495PSMD10c.673G>T (p.Glu225Ter)
c.574G>T (p.Glu192Ter)
c.*138G>T (n.*138G>T)
c.550G>T (p.Glu184Ter)
gnomAD v4
Xg.108084982C>GCA413841496PSMD10c.673G>C (p.Glu225Gln)
c.574G>C (p.Glu192Gln)
c.*138G>C (n.*138G>C)
c.550G>C (p.Glu184Gln)
Xg.108084982C>TCA413841497PSMD10c.673G>A (p.Glu225Lys)
c.574G>A (p.Glu192Lys)
c.*138G>A (n.*138G>A)
c.550G>A (p.Glu184Lys)
gnomAD v4
Xg.108084983C>ACA517921151PSMD10c.672G>T (p.Val224=)
c.573G>T (p.Val191=)
c.*137G>T (n.*137G>T)
c.549G>T (p.Val183=)
Xg.108084983C>GCA517921149PSMD10c.672G>C (p.Val224=)
c.573G>C (p.Val191=)
c.*137G>C (n.*137G>C)
c.549G>C (p.Val183=)
Xg.108084983C>TCA517921150PSMD10c.672G>A (p.Val224=)
c.573G>A (p.Val191=)
c.*137G>A (n.*137G>A)
c.549G>A (p.Val183=)
Xg.108084984A>CCA413841498PSMD10c.671T>G (p.Val224Gly)
c.572T>G (p.Val191Gly)
c.*136T>G (n.*136T>G)
c.548T>G (p.Val183Gly)
Xg.108084984A>GCA413841499PSMD10c.671T>C (p.Val224Ala)
c.572T>C (p.Val191Ala)
c.*136T>C (n.*136T>C)
c.548T>C (p.Val183Ala)
Xg.108084984A>TCA413841500PSMD10c.671T>A (p.Val224Glu)
c.572T>A (p.Val191Glu)
c.*136T>A (n.*136T>A)
c.548T>A (p.Val183Glu)
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)

Number of alleles fetched