Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.108084904C>A | CA2694424266 | PSMD10 | c.*70G>T (n.*70G>T) c.652G>T (n.652G>T) c.*216G>T (n.*216G>T) | gnomAD v4 |
X | g.108084910C>A | CA2514253728 | PSMD10 | c.*64G>T (n.*64G>T) c.646G>T (n.646G>T) c.*210G>T (n.*210G>T) | |
X | g.108084912T>C | CA2694424267 | PSMD10 | c.*62A>G (n.*62A>G) c.644A>G (n.644A>G) c.*208A>G (n.*208A>G) | gnomAD v4 |
X | g.108084913T>C | CA2694424268 | PSMD10 | c.*61A>G (n.*61A>G) c.643A>G (n.643A>G) c.*207A>G (n.*207A>G) | gnomAD v4 |
X | g.108084914A= | CA2450520295 | PSMD10 | c.*60T= (n.*60T=) c.642T= (n.642T=) c.*206T= (n.*206T=) | |
X | g.108084914A>C | CA869778638 | PSMD10 | c.*60T>G (n.*60T>G) c.642T>G (n.642T>G) c.*206T>G (n.*206T>G) | dbSNP |
X | g.108084918T>C | CA2694424269 | PSMD10 | c.*56A>G (n.*56A>G) c.638A>G (n.638A>G) c.*202A>G (n.*202A>G) | gnomAD v4 |
X | g.108084919G= | CA2450520296 | PSMD10 | c.*55C= (n.*55C=) c.637C= (n.637C=) c.*201C= (n.*201C=) | |
X | g.108084919G>T | CA2694424270 | PSMD10 | c.*55C>A (n.*55C>A) c.637C>A (n.637C>A) c.*201C>A (n.*201C>A) | gnomAD v4 |
X | g.108084920T>C | CA1136170234 | PSMD10 | c.*54A>G (n.*54A>G) c.636A>G (n.636A>G) c.*200A>G (n.*200A>G) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108084920T= | CA2450520298 | PSMD10 | c.*54A= (n.*54A=) c.636A= (n.636A=) c.*200A= (n.*200A=) | |
X | g.108084920dup | CA2450520297 | PSMD10 | c.*54dup (n.*54dup) c.636dup (n.636dup) c.*200dup (n.*200dup) | dbSNP |
X | g.108084922G>C | CA333053298 | PSMD10 | c.*52C>G (n.*52C>G) c.634C>G (n.634C>G) c.*198C>G (n.*198C>G) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108084922G= | CA2450520299 | PSMD10 | c.*52C= (n.*52C=) c.634C= (n.634C=) c.*198C= (n.*198C=) | |
X | g.108084922G>T | CA2694424271 | PSMD10 | c.*52C>A (n.*52C>A) c.634C>A (n.634C>A) c.*198C>A (n.*198C>A) | gnomAD v4 |
X | g.108084923G>A | CA10486657 | PSMD10 | c.*51C>T (n.*51C>T) c.633C>T (n.633C>T) c.*197C>T (n.*197C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108084923G= | CA2450520300 | PSMD10 | c.*51C= (n.*51C=) c.633C= (n.633C=) c.*197C= (n.*197C=) | |
X | g.108084923G>T | CA2579673967 | PSMD10 | c.*51C>A (n.*51C>A) c.633C>A (n.633C>A) c.*197C>A (n.*197C>A) | |
X | g.108084925C>A | CA2694424272 | PSMD10 | c.*49G>T (n.*49G>T) c.631G>T (n.631G>T) c.*195G>T (n.*195G>T) | gnomAD v4 |
X | g.108084925C>T | CA2694424273 | PSMD10 | c.*49G>A (n.*49G>A) c.631G>A (n.631G>A) c.*195G>A (n.*195G>A) | gnomAD v4 |
X | g.108084926A= | CA2450520301 | PSMD10 | c.*48T= (n.*48T=) c.630T= (n.630T=) c.*194T= (n.*194T=) | |
X | g.108084926A>G | CA1136170238 | PSMD10 | c.*48T>C (n.*48T>C) c.630T>C (n.630T>C) c.*194T>C (n.*194T>C) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108084927C>A | CA2694424274 | PSMD10 | c.*47G>T (n.*47G>T) c.629G>T (n.629G>T) c.*193G>T (n.*193G>T) | gnomAD v4 |
X | g.108084927C>T | CA517921142 | PSMD10 | c.*47G>A (n.*47G>A) c.629G>A (n.629G>A) c.*193G>A (n.*193G>A) | gnomAD v4 |
X | g.108084932del | CA2579673968 | PSMD10 | c.*45del (n.*45del) c.627del (n.627del) c.*191del (n.*191del) | |
X | g.108084930G>A | CA2694424275 | PSMD10 | c.*44C>T (n.*44C>T) c.626C>T (n.626C>T) c.*190C>T (n.*190C>T) | gnomAD v4 |
X | g.108084930G>T | CA2579673969 | PSMD10 | c.*44C>A (n.*44C>A) c.626C>A (n.626C>A) c.*190C>A (n.*190C>A) | gnomAD v4 |
X | g.108084931G>A | CA2694424276 | PSMD10 | c.*43C>T (n.*43C>T) c.625C>T (n.625C>T) c.*189C>T (n.*189C>T) | gnomAD v4 |
X | g.108084931G>T | CA2579673970 | PSMD10 | c.*43C>A (n.*43C>A) c.625C>A (n.625C>A) c.*189C>A (n.*189C>A) | gnomAD v4 |
X | g.108084932G>T | CA2694424277 | PSMD10 | c.*42C>A (n.*42C>A) c.624C>A (n.624C>A) c.*188C>A (n.*188C>A) | gnomAD v4 |
X | g.108084934del | CA2579673971 | PSMD10 | c.*40del (n.*40del) c.622del (n.622del) c.*186del (n.*186del) | |
X | g.108084934C>A | CA2694424278 | PSMD10 | c.*40G>T (n.*40G>T) c.622G>T (n.622G>T) c.*186G>T (n.*186G>T) | gnomAD v4 |
X | g.108084935_108084936insCT | CA2501359872 | PSMD10 | c.*38_*39insAG (n.*38_*39insAG) c.620_621insAG (n.620_621insAG) c.*184_*185insAG (n.*184_*185insAG) | |
X | g.108084936A>G | CA2694424280 | PSMD10 | c.*38T>C (n.*38T>C) c.620T>C (n.620T>C) c.*184T>C (n.*184T>C) | gnomAD v4 |
X | g.108084942_108084946del | CA2694424279 | PSMD10 | c.*34_*38del (n.*34_*38del) c.616_620del (n.616_620del) c.*180_*184del (n.*180_*184del) | gnomAD v4 |
X | g.108084936_108084937insACAACCCAAACACACC | CA2822885169 | PSMD10 | c.*37_*38insGGTGTGTTTGGGTTGT (n.*37_*38insGGTGTGTTTGGGTTGT) c.619_620insGGTGTGTTTGGGTTGT (n.619_620insGGTGTGTTTGGGTTGT) c.*183_*184insGGTGTGTTTGGGTTGT (n.*183_*184insGGTGTGTTTGGGTTGT) | |
X | g.108084937C>A | CA2694424281 | PSMD10 | c.*37G>T (n.*37G>T) c.619G>T (n.619G>T) c.*183G>T (n.*183G>T) | gnomAD v4 |
X | g.108084938A>C | CA2694424282 | PSMD10 | c.*36T>G (n.*36T>G) c.618T>G (n.618T>G) c.*182T>G (n.*182T>G) | gnomAD v4 |
X | g.108084939A>C | CA2694424283 | PSMD10 | c.*35T>G (n.*35T>G) c.617T>G (n.617T>G) c.*181T>G (n.*181T>G) | gnomAD v4 |
X | g.108084940C>A | CA2694424284 | PSMD10 | c.*34G>T (n.*34G>T) c.616G>T (n.616G>T) c.*180G>T (n.*180G>T) | gnomAD v4 |
X | g.108084940_108084942del | CA2547093977 | PSMD10 | c.*32_*34del (n.*32_*34del) c.614_616del (n.614_616del) c.*178_*180del (n.*178_*180del) | |
X | g.108084942C>A | CA2550563814 | PSMD10 | c.*32G>T (n.*32G>T) c.614G>T (n.614G>T) c.*178G>T (n.*178G>T) | gnomAD v4 |
X | g.108084943A= | CA2450520302 | PSMD10 | c.*31T= (n.*31T=) c.613T= (n.613T=) c.*177T= (n.*177T=) | |
X | g.108084943A>G | CA643631640 | PSMD10 | c.*31T>C (n.*31T>C) c.613T>C (n.613T>C) c.*177T>C (n.*177T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108084944del | CA2579673972 | PSMD10 | c.*31del (n.*31del) c.613del (n.613del) c.*177del (n.*177del) | gnomAD v4 |
X | g.108084944A>G | CA2694424285 | PSMD10 | c.*30T>C (n.*30T>C) c.612T>C (n.612T>C) c.*176T>C (n.*176T>C) | gnomAD v4 |
X | g.108084945C>A | CA2450520304 | PSMD10 | c.*29G>T (n.*29G>T) c.611G>T (n.611G>T) c.*175G>T (n.*175G>T) | dbSNP gnomAD v4 |
X | g.108084945C= | CA2450520303 | PSMD10 | c.*29G= (n.*29G=) c.611G= (n.611G=) c.*175G= (n.*175G=) | |
X | g.108084946A= | CA2450520305 | PSMD10 | c.*28T= (n.*28T=) c.610T= (n.610T=) c.*174T= (n.*174T=) | |
X | g.108084946A>C | CA10486658 | PSMD10 | c.*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 |
X | g.108084946A>G | CA2694424286 | PSMD10 | c.*28T>C (n.*28T>C) c.610T>C (n.610T>C) c.*174T>C (n.*174T>C) | gnomAD v4 |
X | g.108084947T>C | CA2694424287 | PSMD10 | c.*27A>G (n.*27A>G) c.609A>G (n.609A>G) c.*173A>G (n.*173A>G) | gnomAD v4 |
X | g.108084948dup | CA2531325960 | PSMD10 | c.*26dup (n.*26dup) c.608dup (n.608dup) c.*172dup (n.*172dup) | |
X | g.108084950A>G | CA2694424288 | PSMD10 | c.*24T>C (n.*24T>C) c.606T>C (n.606T>C) c.*170T>C (n.*170T>C) | gnomAD v4 |
X | g.108084951A>G | CA2694424289 | PSMD10 | c.*23T>C (n.*23T>C) c.605T>C (n.605T>C) c.*169T>C (n.*169T>C) | gnomAD v4 |
X | g.108084954T>A | CA2694424290 | PSMD10 | c.*20A>T (n.*20A>T) c.602A>T (n.602A>T) c.*166A>T (n.*166A>T) | gnomAD v4 |
X | g.108084954T>G | CA2549659407 | PSMD10 | c.*20A>C (n.*20A>C) c.602A>C (n.602A>C) c.*166A>C (n.*166A>C) | gnomAD v4 |
X | g.108084954dup | CA2579673973 | PSMD10 | c.*20dup (n.*20dup) c.602dup (n.602dup) c.*166dup (n.*166dup) | gnomAD v4 |
X | g.108084960T>C | CA10486659 | PSMD10 | c.*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 |
X | g.108084960T= | CA2450520306 | PSMD10 | c.*14A= (n.*14A=) c.596A= (n.596A=) c.*160A= (n.*160A=) | |
X | g.108084962A>G | CA2694424291 | PSMD10 | c.*12T>C (n.*12T>C) c.594T>C (n.594T>C) c.*158T>C (n.*158T>C) | gnomAD v4 |
X | g.108084962_108084965del | CA2694424292 | PSMD10 | c.*9_*12del (n.*9_*12del) c.591_594del (n.591_594del) c.*155_*158del (n.*155_*158del) | gnomAD v4 |
X | g.108084964T>C | CA2450520308 | PSMD10 | c.*10A>G (n.*10A>G) c.592A>G (n.592A>G) c.*156A>G (n.*156A>G) | dbSNP |
X | g.108084964T= | CA2450520307 | PSMD10 | c.*10A= (n.*10A=) c.592A= (n.592A=) c.*156A= (n.*156A=) | |
X | g.108084965C>A | CA2572030798 | PSMD10 | c.*9G>T (n.*9G>T) c.591G>T (n.591G>T) c.*155G>T (n.*155G>T) | gnomAD v4 |
X | g.108084968_108084987del | CA645607822 | PSMD10 | c.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 |
X | g.108084967A>T | CA2694424293 | PSMD10 | c.*7T>A (n.*7T>A) c.589T>A (n.589T>A) c.*153T>A (n.*153T>A) | gnomAD v4 |
X | g.108084968A= | CA2450520309 | PSMD10 | c.*6T= (n.*6T=) c.588T= (n.588T=) c.*152T= (n.*152T=) | |
X | g.108084968A>G | CA10486660 | PSMD10 | c.*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 |
X | g.108084969G>A | CA2694424294 | PSMD10 | c.*5C>T (n.*5C>T) c.587C>T (n.587C>T) c.*151C>T (n.*151C>T) | gnomAD v4 |
X | g.108084972G>C | CA10486661 | PSMD10 | c.*2C>G (n.*2C>G) c.584C>G (n.584C>G) c.*148C>G (n.*148C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108084972G= | CA2450520310 | PSMD10 | c.*2C= (n.*2C=) c.584C= (n.584C=) c.*148C= (n.*148C=) | |
X | g.108084972G>T | CA2694424295 | PSMD10 | c.*2C>A (n.*2C>A) c.584C>A (n.584C>A) c.*148C>A (n.*148C>A) | gnomAD v4 |
X | g.108084973T>C | CA2539875271 | PSMD10 | c.*1A>G (n.*1A>G) c.583A>G (n.583A>G) c.*147A>G (n.*147A>G) | |
X | g.108084974T>A | CA413841478 | PSMD10 | c.681A>T (p.Ter227Tyr) c.582A>T (p.Ter194Tyr) c.*146A>T (n.*146A>T) c.558A>T (p.Ter186Tyr) | |
X | g.108084974T>C | CA517921143 | PSMD10 | c.681A>G (p.Ter227=) c.582A>G (p.Ter194=) c.*146A>G (n.*146A>G) c.558A>G (p.Ter186=) | |
X | g.108084974T>G | CA413841479 | PSMD10 | c.681A>C (p.Ter227Tyr) c.582A>C (p.Ter194Tyr) c.*146A>C (n.*146A>C) c.558A>C (p.Ter186Tyr) | |
X | g.108084975T>A | CA413841480 | PSMD10 | c.680A>T (p.Ter227Leu) c.581A>T (p.Ter194Leu) c.*145A>T (n.*145A>T) c.557A>T (p.Ter186Leu) | |
X | g.108084975T>C | CA517921144 | PSMD10 | c.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 |
X | g.108084975T>G | CA413841481 | PSMD10 | c.680A>C (p.Ter227Ser) c.581A>C (p.Ter194Ser) c.*145A>C (n.*145A>C) c.557A>C (p.Ter186Ser) | |
X | g.108084975T= | CA2450520311 | PSMD10 | c.680A= (p.Ter227=) c.581A= (p.Ter194=) c.*145A= (n.*145A=) c.557A= (p.Ter186=) | |
X | g.108084976A>C | CA413841482 | PSMD10 | c.679T>G (p.Ter227Glu) c.580T>G (p.Ter194Glu) c.*144T>G (n.*144T>G) c.556T>G (p.Ter186Glu) | |
X | g.108084976A>G | CA413841483 | PSMD10 | c.679T>C (p.Ter227Gln) c.580T>C (p.Ter194Gln) c.*144T>C (n.*144T>C) c.556T>C (p.Ter186Gln) | |
X | g.108084976A>T | CA413841484 | PSMD10 | c.679T>A (p.Ter227Lys) c.580T>A (p.Ter194Lys) c.*144T>A (n.*144T>A) c.556T>A (p.Ter186Lys) | |
X | g.108084977A>C | CA517921147 | PSMD10 | c.678T>G (p.Gly226=) c.579T>G (p.Gly193=) c.*143T>G (n.*143T>G) c.555T>G (p.Gly185=) | |
X | g.108084977A>G | CA517921145 | PSMD10 | c.678T>C (p.Gly226=) c.579T>C (p.Gly193=) c.*143T>C (n.*143T>C) c.555T>C (p.Gly185=) | |
X | g.108084977A>T | CA517921146 | PSMD10 | c.678T>A (p.Gly226=) c.579T>A (p.Gly193=) c.*143T>A (n.*143T>A) c.555T>A (p.Gly185=) | |
X | g.108084978C>A | CA413841486 | PSMD10 | c.677G>T (p.Gly226Val) c.578G>T (p.Gly193Val) c.*142G>T (n.*142G>T) c.554G>T (p.Gly185Val) | |
X | g.108084978C= | CA2450520312 | PSMD10 | c.677G= (p.Gly226=) c.578G= (p.Gly193=) c.*142G= (n.*142G=) c.554G= (p.Gly185=) | |
X | g.108084978C>G | CA413841485 | PSMD10 | c.677G>C (p.Gly226Ala) c.578G>C (p.Gly193Ala) c.*142G>C (n.*142G>C) c.554G>C (p.Gly185Ala) | |
X | g.108084978C>T | CA10486662 | PSMD10 | c.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 |
X | g.108084979C>A | CA413841487 | PSMD10 | c.676G>T (p.Gly226Cys) c.577G>T (p.Gly193Cys) c.*141G>T (n.*141G>T) c.553G>T (p.Gly185Cys) | COSMIC |
X | g.108084979C>G | CA413841488 | PSMD10 | c.676G>C (p.Gly226Arg) c.577G>C (p.Gly193Arg) c.*141G>C (n.*141G>C) c.553G>C (p.Gly185Arg) | |
X | g.108084979C>T | CA413841489 | PSMD10 | c.676G>A (p.Gly226Ser) c.577G>A (p.Gly193Ser) c.*141G>A (n.*141G>A) c.553G>A (p.Gly185Ser) | |
X | g.108084980T>A | CA413841490 | PSMD10 | c.675A>T (p.Glu225Asp) c.576A>T (p.Glu192Asp) c.*140A>T (n.*140A>T) c.552A>T (p.Glu184Asp) | |
X | g.108084980T>C | CA517921148 | PSMD10 | c.675A>G (p.Glu225=) c.576A>G (p.Glu192=) c.*140A>G (n.*140A>G) c.552A>G (p.Glu184=) | |
X | g.108084980T>G | CA413841491 | PSMD10 | c.675A>C (p.Glu225Asp) c.576A>C (p.Glu192Asp) c.*140A>C (n.*140A>C) c.552A>C (p.Glu184Asp) | |
X | g.108084981T>A | CA413841492 | PSMD10 | c.674A>T (p.Glu225Val) c.575A>T (p.Glu192Val) c.*139A>T (n.*139A>T) c.551A>T (p.Glu184Val) | |
X | g.108084981T>C | CA413841494 | PSMD10 | c.674A>G (p.Glu225Gly) c.575A>G (p.Glu192Gly) c.*139A>G (n.*139A>G) c.551A>G (p.Glu184Gly) | |
X | g.108084981T>G | CA413841493 | PSMD10 | c.674A>C (p.Glu225Ala) c.575A>C (p.Glu192Ala) c.*139A>C (n.*139A>C) c.551A>C (p.Glu184Ala) | |
X | g.108084982C>A | CA413841495 | PSMD10 | c.673G>T (p.Glu225Ter) c.574G>T (p.Glu192Ter) c.*138G>T (n.*138G>T) c.550G>T (p.Glu184Ter) | gnomAD v4 |
X | g.108084982C>G | CA413841496 | PSMD10 | c.673G>C (p.Glu225Gln) c.574G>C (p.Glu192Gln) c.*138G>C (n.*138G>C) c.550G>C (p.Glu184Gln) | |
X | g.108084982C>T | CA413841497 | PSMD10 | c.673G>A (p.Glu225Lys) c.574G>A (p.Glu192Lys) c.*138G>A (n.*138G>A) c.550G>A (p.Glu184Lys) | gnomAD v4 |
X | g.108084983C>A | CA517921151 | PSMD10 | c.672G>T (p.Val224=) c.573G>T (p.Val191=) c.*137G>T (n.*137G>T) c.549G>T (p.Val183=) | |
X | g.108084983C>G | CA517921149 | PSMD10 | c.672G>C (p.Val224=) c.573G>C (p.Val191=) c.*137G>C (n.*137G>C) c.549G>C (p.Val183=) | |
X | g.108084983C>T | CA517921150 | PSMD10 | c.672G>A (p.Val224=) c.573G>A (p.Val191=) c.*137G>A (n.*137G>A) c.549G>A (p.Val183=) | |
X | g.108084984A>C | CA413841498 | PSMD10 | c.671T>G (p.Val224Gly) c.572T>G (p.Val191Gly) c.*136T>G (n.*136T>G) c.548T>G (p.Val183Gly) | |
X | g.108084984A>G | CA413841499 | PSMD10 | c.671T>C (p.Val224Ala) c.572T>C (p.Val191Ala) c.*136T>C (n.*136T>C) c.548T>C (p.Val183Ala) | |
X | g.108084984A>T | CA413841500 | PSMD10 | c.671T>A (p.Val224Glu) c.572T>A (p.Val191Glu) c.*136T>A (n.*136T>A) c.548T>A (p.Val183Glu) | |
X | g.108084985C>A | CA413841501 | PSMD10 | c.670G>T (p.Val224Leu) c.571G>T (p.Val191Leu) c.*135G>T (n.*135G>T) c.547G>T (p.Val183Leu) | |
X | g.108084985C>G | CA413841502 | PSMD10 | c.670G>C (p.Val224Leu) c.571G>C (p.Val191Leu) c.*135G>C (n.*135G>C) c.547G>C (p.Val183Leu) | |
X | g.108084985C>T | CA413841503 | PSMD10 | c.670G>A (p.Val224Met) c.571G>A (p.Val191Met) c.*135G>A (n.*135G>A) c.547G>A (p.Val183Met) | |
X | g.108084986C>A | CA413841504 | PSMD10 | c.669G>T (p.Met223Ile) c.570G>T (p.Met190Ile) c.*134G>T (n.*134G>T) c.546G>T (p.Met182Ile) | |
X | g.108084986C= | CA2450520313 | PSMD10 | c.669G= (p.Met223=) c.570G= (p.Met190=) c.*134G= (n.*134G=) c.546G= (p.Met182=) | |
X | g.108084986C>G | CA413841505 | PSMD10 | c.669G>C (p.Met223Ile) c.570G>C (p.Met190Ile) c.*134G>C (n.*134G>C) c.546G>C (p.Met182Ile) | |
X | g.108084986C>T | CA413841506 | PSMD10 | c.669G>A (p.Met223Ile) c.570G>A (p.Met190Ile) c.*134G>A (n.*134G>A) c.546G>A (p.Met182Ile) | dbSNP |
X | g.108084987A>C | CA413841509 | PSMD10 | c.668T>G (p.Met223Arg) c.569T>G (p.Met190Arg) c.*133T>G (n.*133T>G) c.545T>G (p.Met182Arg) | |
X | g.108084987A>G | CA413841507 | PSMD10 | c.668T>C (p.Met223Thr) c.569T>C (p.Met190Thr) c.*133T>C (n.*133T>C) c.545T>C (p.Met182Thr) | |
X | g.108084987A>T | CA413841508 | PSMD10 | c.668T>A (p.Met223Lys) c.569T>A (p.Met190Lys) c.*133T>A (n.*133T>A) c.545T>A (p.Met182Lys) | |
X | g.108084988T>A | CA413841510 | PSMD10 | c.667A>T (p.Met223Leu) c.568A>T (p.Met190Leu) c.*132A>T (n.*132A>T) c.544A>T (p.Met182Leu) | |
X | g.108084988T>C | CA413841511 | PSMD10 | c.667A>G (p.Met223Val) c.568A>G (p.Met190Val) c.*132A>G (n.*132A>G) c.544A>G (p.Met182Val) | |
X | g.108084988T>G | CA413841512 | PSMD10 | c.667A>C (p.Met223Leu) c.568A>C (p.Met190Leu) c.*132A>C (n.*132A>C) c.544A>C (p.Met182Leu) | gnomAD v4 |
X | g.108084989T>A | CA413841513 | PSMD10 | c.666A>T (p.Arg222Ser) c.567A>T (p.Arg189Ser) c.*131A>T (n.*131A>T) c.543A>T (p.Arg181Ser) | |
X | g.108084989T>C | CA517921152 | PSMD10 | c.666A>G (p.Arg222=) c.567A>G (p.Arg189=) c.*131A>G (n.*131A>G) c.543A>G (p.Arg181=) | |
X | g.108084989T>G | CA413841514 | PSMD10 | c.666A>C (p.Arg222Ser) c.567A>C (p.Arg189Ser) c.*131A>C (n.*131A>C) c.543A>C (p.Arg181Ser) | |
X | g.108084990C>A | CA413841515 | PSMD10 | c.665G>T (p.Arg222Ile) c.566G>T (p.Arg189Ile) c.*130G>T (n.*130G>T) c.542G>T (p.Arg181Ile) | |
X | g.108084990C>G | CA413841516 | PSMD10 | c.665G>C (p.Arg222Thr) c.566G>C (p.Arg189Thr) c.*130G>C (n.*130G>C) c.542G>C (p.Arg181Thr) | gnomAD v4 |
X | g.108084990C>T | CA413841517 | PSMD10 | c.665G>A (p.Arg222Lys) c.566G>A (p.Arg189Lys) c.*130G>A (n.*130G>A) c.542G>A (p.Arg181Lys) | |
X | g.108084991T>A | CA413841518 | PSMD10 | c.664A>T (p.Arg222Ter) c.565A>T (p.Arg189Ter) c.*129A>T (n.*129A>T) c.541A>T (p.Arg181Ter) | |
X | g.108084991T>C | CA413841519 | PSMD10 | c.664A>G (p.Arg222Gly) c.565A>G (p.Arg189Gly) c.*129A>G (n.*129A>G) c.541A>G (p.Arg181Gly) | |
X | g.108084991T>G | CA517921153 | PSMD10 | c.664A>C (p.Arg222=) c.565A>C (p.Arg189=) c.*129A>C (n.*129A>C) c.541A>C (p.Arg181=) | |
X | g.108084992C>A | CA413841520 | PSMD10 | c.663G>T (p.Lys221Asn) c.564G>T (p.Lys188Asn) c.*128G>T (n.*128G>T) c.540G>T (p.Lys180Asn) | gnomAD v4 |
X | g.108084992C>G | CA413841521 | PSMD10 | c.663G>C (p.Lys221Asn) c.564G>C (p.Lys188Asn) c.*128G>C (n.*128G>C) c.540G>C (p.Lys180Asn) | gnomAD v4 |
X | g.108084992C>T | CA517921154 | PSMD10 | c.663G>A (p.Lys221=) c.564G>A (p.Lys188=) c.*128G>A (n.*128G>A) c.540G>A (p.Lys180=) | |
X | g.108084993T>A | CA413841523 | PSMD10 | c.662A>T (p.Lys221Met) c.563A>T (p.Lys188Met) c.*127A>T (n.*127A>T) c.539A>T (p.Lys180Met) | |
X | g.108084993T>C | CA10486663 | PSMD10 | c.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 |
X | g.108084993T>G | CA413841522 | PSMD10 | c.662A>C (p.Lys221Thr) c.563A>C (p.Lys188Thr) c.*127A>C (n.*127A>C) c.539A>C (p.Lys180Thr) | |
X | g.108084993T= | CA2450520314 | PSMD10 | c.662A= (p.Lys221=) c.563A= (p.Lys188=) c.*127A= (n.*127A=) c.539A= (p.Lys180=) | |
X | g.108084994T>A | CA413841524 | PSMD10 | c.661A>T (p.Lys221Ter) c.562A>T (p.Lys188Ter) c.*126A>T (n.*126A>T) c.538A>T (p.Lys180Ter) | |
X | g.108084994T>C | CA413841525 | PSMD10 | c.661A>G (p.Lys221Glu) c.562A>G (p.Lys188Glu) c.*126A>G (n.*126A>G) c.538A>G (p.Lys180Glu) | |
X | g.108084994T>G | CA413841526 | PSMD10 | c.661A>C (p.Lys221Gln) c.562A>C (p.Lys188Gln) c.*126A>C (n.*126A>C) c.538A>C (p.Lys180Gln) | |
X | g.108084994_108084995delinsTG | CA2450520315 | PSMD10 | c.660_661delinsCA (p.Leu220=) c.561_562delinsCA (p.Leu187=) c.*125_*126delinsCA (n.*125_*126delinsCA) c.537_538delinsCA (p.Leu179=) | |
X | g.108084995_108084998del | CA2694424296 | PSMD10 | c.658_661del (p.Leu220ArgfsTer?) c.559_562del (p.Leu187ArgfsTer?) c.*123_*126del (n.*123_*126del) c.535_538del (p.Leu179ArgfsTer?) | gnomAD v4 |
X | g.108084995del | CA643631641 | PSMD10 | c.660del (p.Lys221ArgfsTer?) c.561del (p.Lys188ArgfsTer?) c.*125del (n.*125del) c.537del (p.Lys180ArgfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108084995G>A | CA517921155 | PSMD10 | c.660C>T (p.Leu220=) c.561C>T (p.Leu187=) c.*125C>T (n.*125C>T) c.537C>T (p.Leu179=) | |
X | g.108084995G>C | CA517921156 | PSMD10 | c.660C>G (p.Leu220=) c.561C>G (p.Leu187=) c.*125C>G (n.*125C>G) c.537C>G (p.Leu179=) | |
X | g.108084995G>T | CA517921157 | PSMD10 | c.660C>A (p.Leu220=) c.561C>A (p.Leu187=) c.*125C>A (n.*125C>A) c.537C>A (p.Leu179=) | |
X | g.108084996A>C | CA413841527 | PSMD10 | c.659T>G (p.Leu220Arg) c.560T>G (p.Leu187Arg) c.*124T>G (n.*124T>G) c.536T>G (p.Leu179Arg) | |
X | g.108084996A>G | CA413841528 | PSMD10 | c.659T>C (p.Leu220Pro) c.560T>C (p.Leu187Pro) c.*124T>C (n.*124T>C) c.536T>C (p.Leu179Pro) | |
X | g.108084996A>T | CA413841529 | PSMD10 | c.659T>A (p.Leu220His) c.560T>A (p.Leu187His) c.*124T>A (n.*124T>A) c.536T>A (p.Leu179His) | |
X | g.108084997G>A | CA413841530 | PSMD10 | c.658C>T (p.Leu220Phe) c.559C>T (p.Leu187Phe) c.*123C>T (n.*123C>T) c.535C>T (p.Leu179Phe) | |
X | g.108084997G>C | CA413841531 | PSMD10 | c.658C>G (p.Leu220Val) c.559C>G (p.Leu187Val) c.*123C>G (n.*123C>G) c.535C>G (p.Leu179Val) | |
X | g.108084997G>T | CA413841532 | PSMD10 | c.658C>A (p.Leu220Ile) c.559C>A (p.Leu187Ile) c.*123C>A (n.*123C>A) c.535C>A (p.Leu179Ile) | |
X | g.108084998T>A | CA517921158 | PSMD10 | c.657A>T (p.Ile219=) c.558A>T (p.Ile186=) c.*122A>T (n.*122A>T) c.534A>T (p.Ile178=) | |
X | g.108084998T>C | CA413841533 | PSMD10 | c.657A>G (p.Ile219Met) c.558A>G (p.Ile186Met) c.*122A>G (n.*122A>G) c.534A>G (p.Ile178Met) | |
X | g.108084998T>G | CA517921159 | PSMD10 | c.657A>C (p.Ile219=) c.558A>C (p.Ile186=) c.*122A>C (n.*122A>C) c.534A>C (p.Ile178=) | gnomAD v4 |
X | g.108084999A= | CA2450520316 | PSMD10 | c.656T= (p.Ile219=) c.557T= (p.Ile186=) c.*121T= (n.*121T=) c.533T= (p.Ile178=) | |
X | g.108084999A>C | CA413841534 | PSMD10 | c.656T>G (p.Ile219Arg) c.557T>G (p.Ile186Arg) c.*121T>G (n.*121T>G) c.533T>G (p.Ile178Arg) | |
X | g.108084999A>G | CA413841535 | PSMD10 | c.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 |
X | g.108084999A>T | CA413841536 | PSMD10 | c.656T>A (p.Ile219Lys) c.557T>A (p.Ile186Lys) c.*121T>A (n.*121T>A) c.533T>A (p.Ile178Lys) | |
X | g.108085000T>A | CA10486664 | PSMD10 | c.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 |
X | g.108085000T>C | CA413841538 | PSMD10 | c.655A>G (p.Ile219Val) c.556A>G (p.Ile186Val) c.*120A>G (n.*120A>G) c.532A>G (p.Ile178Val) | |
X | g.108085000T>G | CA413841537 | PSMD10 | c.655A>C (p.Ile219Leu) c.556A>C (p.Ile186Leu) c.*120A>C (n.*120A>C) c.532A>C (p.Ile178Leu) | |
X | g.108085000T= | CA2450520317 | PSMD10 | c.655A= (p.Ile219=) c.556A= (p.Ile186=) c.*120A= (n.*120A=) c.532A= (p.Ile178=) | |
X | g.108085001T>A | CA413841539 | PSMD10 | c.654A>T (p.Leu218Phe) c.555A>T (p.Leu185Phe) c.*119A>T (n.*119A>T) c.531A>T (p.Leu177Phe) | |
X | g.108085001T>C | CA517921160 | PSMD10 | c.654A>G (p.Leu218=) c.555A>G (p.Leu185=) c.*119A>G (n.*119A>G) c.531A>G (p.Leu177=) | |
X | g.108085001T>G | CA413841540 | PSMD10 | c.654A>C (p.Leu218Phe) c.555A>C (p.Leu185Phe) c.*119A>C (n.*119A>C) c.531A>C (p.Leu177Phe) | |
X | g.108085002A>C | CA413841541 | PSMD10 | c.653T>G (p.Leu218Ter) c.554T>G (p.Leu185Ter) c.*118T>G (n.*118T>G) c.530T>G (p.Leu177Ter) | |
X | g.108085002A>G | CA413841542 | PSMD10 | c.653T>C (p.Leu218Ser) c.554T>C (p.Leu185Ser) c.*118T>C (n.*118T>C) c.530T>C (p.Leu177Ser) | |
X | g.108085002A>T | CA413841543 | PSMD10 | c.653T>A (p.Leu218Ter) c.554T>A (p.Leu185Ter) c.*118T>A (n.*118T>A) c.530T>A (p.Leu177Ter) | |
X | g.108085003A= | CA2450520318 | PSMD10 | c.652T= (p.Leu218=) c.553T= (p.Leu185=) c.*117T= (n.*117T=) c.529T= (p.Leu177=) | |
X | g.108085003A>C | CA413841544 | PSMD10 | c.652T>G (p.Leu218Val) c.553T>G (p.Leu185Val) c.*117T>G (n.*117T>G) c.529T>G (p.Leu177Val) | |
X | g.108085003A>G | CA517921161 | PSMD10 | c.652T>C (p.Leu218=) c.553T>C (p.Leu185=) c.*117T>C (n.*117T>C) c.529T>C (p.Leu177=) | |
X | g.108085003A>T | CA10486665 | PSMD10 | c.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 |
X | g.108085004A= | CA2450520319 | PSMD10 | c.651T= (p.Gly217=) c.552T= (p.Gly184=) c.*116T= (n.*116T=) c.528T= (p.Gly176=) | |
X | g.108085004A>C | CA517921162 | PSMD10 | c.651T>G (p.Gly217=) c.552T>G (p.Gly184=) c.*116T>G (n.*116T>G) c.528T>G (p.Gly176=) | |
X | g.108085004A>G | CA10486666 | PSMD10 | c.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 |
X | g.108085004A>T | CA517921163 | PSMD10 | c.651T>A (p.Gly217=) c.552T>A (p.Gly184=) c.*116T>A (n.*116T>A) c.528T>A (p.Gly176=) |