Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)
Xg.108085086A>CCA413841724PSMD10c.569T>G (p.Leu190Arg)
c.470T>G (p.Leu157Arg)
c.*34T>G (n.*34T>G)
c.446T>G (p.Leu149Arg)
gnomAD v4
Xg.108085086A>GCA413841723PSMD10c.569T>C (p.Leu190Pro)
c.470T>C (p.Leu157Pro)
c.*34T>C (n.*34T>C)
c.446T>C (p.Leu149Pro)
Xg.108085086A>TCA413841725PSMD10c.569T>A (p.Leu190Gln)
c.470T>A (p.Leu157Gln)
c.*34T>A (n.*34T>A)
c.446T>A (p.Leu149Gln)
Xg.108085087G>ACA517921221PSMD10c.568C>T (p.Leu190=)
c.469C>T (p.Leu157=)
c.*33C>T (n.*33C>T)
c.445C>T (p.Leu149=)
Xg.108085087G>CCA413841726PSMD10c.568C>G (p.Leu190Val)
c.469C>G (p.Leu157Val)
c.*33C>G (n.*33C>G)
c.445C>G (p.Leu149Val)
Xg.108085087G>TCA413841727PSMD10c.568C>A (p.Leu190Met)
c.469C>A (p.Leu157Met)
c.*33C>A (n.*33C>A)
c.445C>A (p.Leu149Met)
Xg.108085088T>ACA413841728PSMD10c.567A>T (p.Lys189Asn)
c.468A>T (p.Lys156Asn)
c.*32A>T (n.*32A>T)
c.444A>T (p.Lys148Asn)
Xg.108085088T>CCA517921222PSMD10c.567A>G (p.Lys189=)
c.468A>G (p.Lys156=)
c.*32A>G (n.*32A>G)
c.444A>G (p.Lys148=)
Xg.108085088T>GCA413841729PSMD10c.567A>C (p.Lys189Asn)
c.468A>C (p.Lys156Asn)
c.*32A>C (n.*32A>C)
c.444A>C (p.Lys148Asn)
Xg.108085089T>ACA413841730PSMD10c.566A>T (p.Lys189Ile)
c.467A>T (p.Lys156Ile)
c.*31A>T (n.*31A>T)
c.443A>T (p.Lys148Ile)
Xg.108085089T>CCA413841731PSMD10c.566A>G (p.Lys189Arg)
c.467A>G (p.Lys156Arg)
c.*31A>G (n.*31A>G)
c.443A>G (p.Lys148Arg)
Xg.108085089T>GCA413841732PSMD10c.566A>C (p.Lys189Thr)
c.467A>C (p.Lys156Thr)
c.*31A>C (n.*31A>C)
c.443A>C (p.Lys148Thr)
Xg.108085090T>ACA413841733PSMD10c.565A>T (p.Lys189Ter)
c.466A>T (p.Lys156Ter)
c.*30A>T (n.*30A>T)
c.442A>T (p.Lys148Ter)
Xg.108085090T>CCA413841734PSMD10c.565A>G (p.Lys189Glu)
c.466A>G (p.Lys156Glu)
c.*30A>G (n.*30A>G)
c.442A>G (p.Lys148Glu)
Xg.108085090T>GCA413841735PSMD10c.565A>C (p.Lys189Gln)
c.466A>C (p.Lys156Gln)
c.*30A>C (n.*30A>C)
c.442A>C (p.Lys148Gln)
Xg.108085091T>ACA517921223PSMD10c.564A>T (p.Ala188=)
c.465A>T (p.Ala155=)
c.*29A>T (n.*29A>T)
c.441A>T (p.Ala147=)
Xg.108085091T>CCA517921224PSMD10c.564A>G (p.Ala188=)
c.465A>G (p.Ala155=)
c.*29A>G (n.*29A>G)
c.441A>G (p.Ala147=)
Xg.108085091T>GCA517921225PSMD10c.564A>C (p.Ala188=)
c.465A>C (p.Ala155=)
c.*29A>C (n.*29A>C)
c.441A>C (p.Ala147=)
Xg.108085092G>ACA413841736PSMD10c.563C>T (p.Ala188Val)
c.464C>T (p.Ala155Val)
c.*28C>T (n.*28C>T)
c.440C>T (p.Ala147Val)
Xg.108085092G>CCA413841737PSMD10c.563C>G (p.Ala188Gly)
c.464C>G (p.Ala155Gly)
c.*28C>G (n.*28C>G)
c.440C>G (p.Ala147Gly)
Xg.108085092G>TCA413841738PSMD10c.563C>A (p.Ala188Glu)
c.464C>A (p.Ala155Glu)
c.*28C>A (n.*28C>A)
c.440C>A (p.Ala147Glu)
Xg.108085093C>ACA413841739PSMD10c.562G>T (p.Ala188Ser)
c.463G>T (p.Ala155Ser)
c.*27G>T (n.*27G>T)
c.439G>T (p.Ala147Ser)
Xg.108085093C>GCA413841741PSMD10c.562G>C (p.Ala188Pro)
c.463G>C (p.Ala155Pro)
c.*27G>C (n.*27G>C)
c.439G>C (p.Ala147Pro)
Xg.108085093C>TCA413841740PSMD10c.562G>A (p.Ala188Thr)
c.463G>A (p.Ala155Thr)
c.*27G>A (n.*27G>A)
c.439G>A (p.Ala147Thr)
Xg.108085094T>ACA413841742PSMD10c.561A>T (p.Glu187Asp)
c.462A>T (p.Glu154Asp)
c.*26A>T (n.*26A>T)
c.438A>T (p.Glu146Asp)
Xg.108085094T>CCA517921226PSMD10c.561A>G (p.Glu187=)
c.462A>G (p.Glu154=)
c.*26A>G (n.*26A>G)
c.438A>G (p.Glu146=)
Xg.108085094T>GCA413841743PSMD10c.561A>C (p.Glu187Asp)
c.462A>C (p.Glu154Asp)
c.*26A>C (n.*26A>C)
c.438A>C (p.Glu146Asp)
gnomAD v4
Xg.108085095T>ACA413841744PSMD10c.560A>T (p.Glu187Val)
c.461A>T (p.Glu154Val)
c.*25A>T (n.*25A>T)
c.437A>T (p.Glu146Val)
Xg.108085095T>CCA413841745PSMD10c.560A>G (p.Glu187Gly)
c.461A>G (p.Glu154Gly)
c.*25A>G (n.*25A>G)
c.437A>G (p.Glu146Gly)
Xg.108085095T>GCA413841746PSMD10c.560A>C (p.Glu187Ala)
c.461A>C (p.Glu154Ala)
c.*25A>C (n.*25A>C)
c.437A>C (p.Glu146Ala)
Xg.108085096C>ACA413841747PSMD10c.559G>T (p.Glu187Ter)
c.460G>T (p.Glu154Ter)
c.*24G>T (n.*24G>T)
c.436G>T (p.Glu146Ter)
Xg.108085096C>GCA413841748PSMD10c.559G>C (p.Glu187Gln)
c.460G>C (p.Glu154Gln)
c.*24G>C (n.*24G>C)
c.436G>C (p.Glu146Gln)
Xg.108085096C>TCA413841749PSMD10c.559G>A (p.Glu187Lys)
c.460G>A (p.Glu154Lys)
c.*24G>A (n.*24G>A)
c.436G>A (p.Glu146Lys)
Xg.108085097T>ACA413841750PSMD10c.558A>T (p.Glu186Asp)
c.459A>T (p.Glu153Asp)
c.*23A>T (n.*23A>T)
c.435A>T (p.Glu145Asp)
Xg.108085097T>CCA517921227PSMD10c.558A>G (p.Glu186=)
c.459A>G (p.Glu153=)
c.*23A>G (n.*23A>G)
c.435A>G (p.Glu145=)
Xg.108085097T>GCA413841751PSMD10c.558A>C (p.Glu186Asp)
c.459A>C (p.Glu153Asp)
c.*23A>C (n.*23A>C)
c.435A>C (p.Glu145Asp)
Xg.108085098T>ACA413841754PSMD10c.557A>T (p.Glu186Val)
c.458A>T (p.Glu153Val)
c.*22A>T (n.*22A>T)
c.434A>T (p.Glu145Val)
Xg.108085098T>CCA413841753PSMD10c.557A>G (p.Glu186Gly)
c.458A>G (p.Glu153Gly)
c.*22A>G (n.*22A>G)
c.434A>G (p.Glu145Gly)
Xg.108085098T>GCA413841752PSMD10c.557A>C (p.Glu186Ala)
c.458A>C (p.Glu153Ala)
c.*22A>C (n.*22A>C)
c.434A>C (p.Glu145Ala)
COSMIC
Xg.108085099C>ACA413841755PSMD10c.556G>T (p.Glu186Ter)
c.457G>T (p.Glu153Ter)
c.*21G>T (n.*21G>T)
c.433G>T (p.Glu145Ter)
gnomAD v4
Xg.108085099C>GCA413841756PSMD10c.556G>C (p.Glu186Gln)
c.457G>C (p.Glu153Gln)
c.*21G>C (n.*21G>C)
c.433G>C (p.Glu145Gln)
Xg.108085099C>TCA413841757PSMD10c.556G>A (p.Glu186Lys)
c.457G>A (p.Glu153Lys)
c.*21G>A (n.*21G>A)
c.433G>A (p.Glu145Lys)
gnomAD v4
Xg.108085100C>ACA517921229PSMD10c.555G>T (p.Val185=)
c.456G>T (p.Val152=)
c.*20G>T (n.*20G>T)
c.432G>T (p.Val144=)
Xg.108085100C=CA2450520339PSMD10c.555G= (p.Val185=)
c.456G= (p.Val152=)
c.*20G= (n.*20G=)
c.432G= (p.Val144=)
Xg.108085100C>GCA517921228PSMD10c.555G>C (p.Val185=)
c.456G>C (p.Val152=)
c.*20G>C (n.*20G>C)
c.432G>C (p.Val144=)
Xg.108085100C>TCA333053404PSMD10c.555G>A (p.Val185=)
c.456G>A (p.Val152=)
c.*20G>A (n.*20G>A)
c.432G>A (p.Val144=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108085101A>CCA413841758PSMD10c.554T>G (p.Val185Gly)
c.455T>G (p.Val152Gly)
c.*19T>G (n.*19T>G)
c.431T>G (p.Val144Gly)
Xg.108085101A>GCA413841759PSMD10c.554T>C (p.Val185Ala)
c.455T>C (p.Val152Ala)
c.*19T>C (n.*19T>C)
c.431T>C (p.Val144Ala)
Xg.108085101A>TCA413841760PSMD10c.554T>A (p.Val185Glu)
c.455T>A (p.Val152Glu)
c.*19T>A (n.*19T>A)
c.431T>A (p.Val144Glu)
Xg.108085102C>ACA413841761PSMD10c.553G>T (p.Val185Leu)
c.454G>T (p.Val152Leu)
c.*18G>T (n.*18G>T)
c.430G>T (p.Val144Leu)
gnomAD v4
Xg.108085102C>GCA413841762PSMD10c.553G>C (p.Val185Leu)
c.454G>C (p.Val152Leu)
c.*18G>C (n.*18G>C)
c.430G>C (p.Val144Leu)
Xg.108085102C>TCA413841763PSMD10c.553G>A (p.Val185Met)
c.454G>A (p.Val152Met)
c.*18G>A (n.*18G>A)
c.430G>A (p.Val144Met)
Xg.108085103T>ACA413841764PSMD10c.552A>T (p.Arg184Ser)
c.453A>T (p.Arg151Ser)
c.*17A>T (n.*17A>T)
c.429A>T (p.Arg143Ser)
Xg.108085103T>CCA517921230PSMD10c.552A>G (p.Arg184=)
c.453A>G (p.Arg151=)
c.*17A>G (n.*17A>G)
c.429A>G (p.Arg143=)
Xg.108085103T>GCA413841765PSMD10c.552A>C (p.Arg184Ser)
c.453A>C (p.Arg151Ser)
c.*17A>C (n.*17A>C)
c.429A>C (p.Arg143Ser)
Xg.108085104C>ACA413841768PSMD10c.551G>T (p.Arg184Ile)
c.452G>T (p.Arg151Ile)
c.*16G>T (n.*16G>T)
c.428G>T (p.Arg143Ile)
Xg.108085104C>GCA413841766PSMD10c.551G>C (p.Arg184Thr)
c.452G>C (p.Arg151Thr)
c.*16G>C (n.*16G>C)
c.428G>C (p.Arg143Thr)
Xg.108085104C>TCA413841767PSMD10c.551G>A (p.Arg184Lys)
c.452G>A (p.Arg151Lys)
c.*16G>A (n.*16G>A)
c.428G>A (p.Arg143Lys)
gnomAD v4
Xg.108085105T>ACA413841769PSMD10c.550A>T (p.Arg184Ter)
c.451A>T (p.Arg151Ter)
c.*15A>T (n.*15A>T)
c.427A>T (p.Arg143Ter)
Xg.108085105T>CCA413841770PSMD10c.550A>G (p.Arg184Gly)
c.451A>G (p.Arg151Gly)
c.*15A>G (n.*15A>G)
c.427A>G (p.Arg143Gly)
gnomAD v4
Xg.108085105T>GCA517921231PSMD10c.550A>C (p.Arg184=)
c.451A>C (p.Arg151=)
c.*15A>C (n.*15A>C)
c.427A>C (p.Arg143=)
Xg.108085106C>ACA413841771PSMD10c.549G>T (p.Glu183Asp)
c.450G>T (p.Glu150Asp)
c.*14G>T (n.*14G>T)
c.426G>T (p.Glu142Asp)
Xg.108085106C>GCA413841772PSMD10c.549G>C (p.Glu183Asp)
c.450G>C (p.Glu150Asp)
c.*14G>C (n.*14G>C)
c.426G>C (p.Glu142Asp)
Xg.108085106C>TCA517921232PSMD10c.549G>A (p.Glu183=)
c.450G>A (p.Glu150=)
c.*14G>A (n.*14G>A)
c.426G>A (p.Glu142=)
gnomAD v4
Xg.108085107T>ACA413841773PSMD10c.548A>T (p.Glu183Val)
c.449A>T (p.Glu150Val)
c.*13A>T (n.*13A>T)
c.425A>T (p.Glu142Val)
Xg.108085107T>CCA413841774PSMD10c.548A>G (p.Glu183Gly)
c.449A>G (p.Glu150Gly)
c.*13A>G (n.*13A>G)
c.425A>G (p.Glu142Gly)
Xg.108085107T>GCA413841775PSMD10c.548A>C (p.Glu183Ala)
c.449A>C (p.Glu150Ala)
c.*13A>C (n.*13A>C)
c.425A>C (p.Glu142Ala)
Xg.108085108C>ACA413841776PSMD10c.547G>T (p.Glu183Ter)
c.448G>T (p.Glu150Ter)
c.*12G>T (n.*12G>T)
c.424G>T (p.Glu142Ter)
Xg.108085108C>GCA413841777PSMD10c.547G>C (p.Glu183Gln)
c.448G>C (p.Glu150Gln)
c.*12G>C (n.*12G>C)
c.424G>C (p.Glu142Gln)
Xg.108085108C>TCA413841778PSMD10c.547G>A (p.Glu183Lys)
c.448G>A (p.Glu150Lys)
c.*12G>A (n.*12G>A)
c.424G>A (p.Glu142Lys)
ClinVar gnomAD v4
Xg.108085109C>ACA413841779PSMD10c.546G>T (p.Glu182Asp)
c.447G>T (p.Glu149Asp)
c.*11G>T (n.*11G>T)
c.423G>T (p.Glu141Asp)
Xg.108085109C>GCA413841780PSMD10c.546G>C (p.Glu182Asp)
c.447G>C (p.Glu149Asp)
c.*11G>C (n.*11G>C)
c.423G>C (p.Glu141Asp)
Xg.108085109C>TCA517921233PSMD10c.546G>A (p.Glu182=)
c.447G>A (p.Glu149=)
c.*11G>A (n.*11G>A)
c.423G>A (p.Glu141=)
Xg.108085110T>ACA413841782PSMD10c.545A>T (p.Glu182Val)
c.446A>T (p.Glu149Val)
c.*10A>T (n.*10A>T)
c.422A>T (p.Glu141Val)
Xg.108085110T>CCA413841783PSMD10c.545A>G (p.Glu182Gly)
c.446A>G (p.Glu149Gly)
c.*10A>G (n.*10A>G)
c.422A>G (p.Glu141Gly)
Xg.108085110T>GCA413841781PSMD10c.545A>C (p.Glu182Ala)
c.446A>C (p.Glu149Ala)
c.*10A>C (n.*10A>C)
c.422A>C (p.Glu141Ala)
Xg.108085111C>ACA413841786PSMD10c.544G>T (p.Glu182Ter)
c.445G>T (p.Glu149Ter)
c.*9G>T (n.*9G>T)
c.421G>T (p.Glu141Ter)
Xg.108085111C>GCA413841784PSMD10c.544G>C (p.Glu182Gln)
c.445G>C (p.Glu149Gln)
c.*9G>C (n.*9G>C)
c.421G>C (p.Glu141Gln)
Xg.108085111C>TCA413841785PSMD10c.544G>A (p.Glu182Lys)
c.445G>A (p.Glu149Lys)
c.*9G>A (n.*9G>A)
c.421G>A (p.Glu141Lys)
Xg.108085112A>CCA413841787PSMD10c.543T>G (p.Asp181Glu)
c.444T>G (p.Asp148Glu)
c.*8T>G (n.*8T>G)
c.420T>G (p.Asp140Glu)
Xg.108085112A>GCA517921234PSMD10c.543T>C (p.Asp181=)
c.444T>C (p.Asp148=)
c.*8T>C (n.*8T>C)
c.420T>C (p.Asp140=)
Xg.108085112A>TCA413841788PSMD10c.543T>A (p.Asp181Glu)
c.444T>A (p.Asp148Glu)
c.*8T>A (n.*8T>A)
c.420T>A (p.Asp140Glu)
Xg.108085113T>ACA413841789PSMD10c.542A>T (p.Asp181Val)
c.443A>T (p.Asp148Val)
c.*7A>T (n.*7A>T)
c.419A>T (p.Asp140Val)
Xg.108085113T>CCA413841790PSMD10c.542A>G (p.Asp181Gly)
c.443A>G (p.Asp148Gly)
c.*7A>G (n.*7A>G)
c.419A>G (p.Asp140Gly)
Xg.108085113T>GCA413841791PSMD10c.542A>C (p.Asp181Ala)
c.443A>C (p.Asp148Ala)
c.*7A>C (n.*7A>C)
c.419A>C (p.Asp140Ala)
Xg.108085114delCA2579673974PSMD10c.541del (p.Asp181MetfsTer?)
c.442del (p.Asp148MetfsTer?)
c.*6del (n.*6del)
c.418del (p.Asp140MetfsTer?)
Xg.108085114C>ACA413841792PSMD10c.541G>T (p.Asp181Tyr)
c.442G>T (p.Asp148Tyr)
c.*6G>T (n.*6G>T)
c.418G>T (p.Asp140Tyr)
Xg.108085114C>GCA413841793PSMD10c.541G>C (p.Asp181His)
c.442G>C (p.Asp148His)
c.*6G>C (n.*6G>C)
c.418G>C (p.Asp140His)
Xg.108085114C>TCA413841794PSMD10c.541G>A (p.Asp181Asn)
c.442G>A (p.Asp148Asn)
c.*6G>A (n.*6G>A)
c.418G>A (p.Asp140Asn)
gnomAD v4
Xg.108085115A>CCA413841795PSMD10c.540T>G (p.Cys180Trp)
c.441T>G (p.Cys147Trp)
c.*5T>G (n.*5T>G)
c.417T>G (p.Cys139Trp)
Xg.108085115A>GCA517921235PSMD10c.540T>C (p.Cys180=)
c.441T>C (p.Cys147=)
c.*5T>C (n.*5T>C)
c.417T>C (p.Cys139=)
Xg.108085115A>TCA413841796PSMD10c.540T>A (p.Cys180Ter)
c.441T>A (p.Cys147Ter)
c.*5T>A (n.*5T>A)
c.417T>A (p.Cys139Ter)
Xg.108085116C>ACA413841798PSMD10c.539G>T (p.Cys180Phe)
c.440G>T (p.Cys147Phe)
c.*4G>T (n.*4G>T)
c.416G>T (p.Cys139Phe)
Xg.108085116C=CA2450520340PSMD10c.539G= (p.Cys180=)
c.440G= (p.Cys147=)
c.*4G= (n.*4G=)
c.416G= (p.Cys139=)
Xg.108085116C>GCA10486675PSMD10c.539G>C (p.Cys180Ser)
c.440G>C (p.Cys147Ser)
c.*4G>C (n.*4G>C)
c.416G>C (p.Cys139Ser)
dbSNP ExAC gnomAD v3 gnomAD v4
Xg.108085116C>TCA413841797PSMD10c.539G>A (p.Cys180Tyr)
c.440G>A (p.Cys147Tyr)
c.*4G>A (n.*4G>A)
c.416G>A (p.Cys139Tyr)
gnomAD v4
Xg.108085117A>CCA413841799PSMD10c.538T>G (p.Cys180Gly)
c.439T>G (p.Cys147Gly)
c.*3T>G (n.*3T>G)
c.415T>G (p.Cys139Gly)
Xg.108085117A>GCA413841800PSMD10c.538T>C (p.Cys180Arg)
c.439T>C (p.Cys147Arg)
c.*3T>C (n.*3T>C)
c.415T>C (p.Cys139Arg)
Xg.108085117A>TCA413841801PSMD10c.538T>A (p.Cys180Ser)
c.439T>A (p.Cys147Ser)
c.*3T>A (n.*3T>A)
c.415T>A (p.Cys139Ser)
Xg.108085118G>ACA517921236PSMD10c.537C>T (p.Ala179=)
c.438C>T (p.Ala146=)
c.*2C>T (n.*2C>T)
c.414C>T (p.Ala138=)
Xg.108085118G>CCA517921238PSMD10c.537C>G (p.Ala179=)
c.438C>G (p.Ala146=)
c.*2C>G (n.*2C>G)
c.414C>G (p.Ala138=)
Xg.108085118G>TCA517921237PSMD10c.537C>A (p.Ala179=)
c.438C>A (p.Ala146=)
c.*2C>A (n.*2C>A)
c.414C>A (p.Ala138=)
Xg.108085119G>ACA413841802PSMD10c.536C>T (p.Ala179Val)
c.437C>T (p.Ala146Val)
c.*1C>T (n.*1C>T)
c.413C>T (p.Ala138Val)
Xg.108085119G>CCA413841803PSMD10c.536C>G (p.Ala179Gly)
c.437C>G (p.Ala146Gly)
c.*1C>G (n.*1C>G)
c.413C>G (p.Ala138Gly)
gnomAD v4
Xg.108085119G>TCA413841804PSMD10c.536C>A (p.Ala179Asp)
c.437C>A (p.Ala146Asp)
c.*1C>A (n.*1C>A)
c.413C>A (p.Ala138Asp)
Xg.108085120C>ACA413841805PSMD10c.535G>T (p.Ala179Ser)
c.436G>T (p.Ala146Ser)
c.456G>T (p.Ter152Tyr)
c.412G>T (p.Ala138Ser)
c.333G>T (p.Ter111Tyr)
Xg.108085120C>GCA413841806PSMD10c.535G>C (p.Ala179Pro)
c.436G>C (p.Ala146Pro)
c.456G>C (p.Ter152Tyr)
c.412G>C (p.Ala138Pro)
c.333G>C (p.Ter111Tyr)
Xg.108085120C>TCA413841807PSMD10c.535G>A (p.Ala179Thr)
c.436G>A (p.Ala146Thr)
c.456G>A (p.Ter152=)
c.412G>A (p.Ala138Thr)
c.333G>A (p.Ter111=)
Xg.108085121T>ACA413841808PSMD10c.534A>T (p.Leu178Phe)
c.435A>T (p.Leu145Phe)
c.455A>T (p.Ter152Leu)
c.411A>T (p.Leu137Phe)
c.332A>T (p.Ter111Leu)
Xg.108085121T>CCA413841809PSMD10c.534A>G (p.Leu178=)
c.435A>G (p.Leu145=)
c.455A>G (p.Ter152Trp)
c.411A>G (p.Leu137=)
c.332A>G (p.Ter111Trp)
Xg.108085121T>GCA413841810PSMD10c.534A>C (p.Leu178Phe)
c.435A>C (p.Leu145Phe)
c.455A>C (p.Ter152Ser)
c.411A>C (p.Leu137Phe)
c.332A>C (p.Ter111Ser)
Xg.108085122A>CCA413841812PSMD10c.533T>G (p.Leu178Ter)
c.434T>G (p.Leu145Ter)
c.454T>G (p.Ter152Glu)
c.410T>G (p.Leu137Ter)
c.331T>G (p.Ter111Glu)
Xg.108085122A>GCA413841813PSMD10c.533T>C (p.Leu178Ser)
c.434T>C (p.Leu145Ser)
c.454T>C (p.Ter152Gln)
c.410T>C (p.Leu137Ser)
c.331T>C (p.Ter111Gln)
Xg.108085122A>TCA413841811PSMD10c.533T>A (p.Leu178Ter)
c.434T>A (p.Leu145Ter)
c.454T>A (p.Ter152Lys)
c.410T>A (p.Leu137Ter)
c.331T>A (p.Ter111Lys)
Xg.108085123A>CCA413841814PSMD10c.532T>G (p.Leu178Val)
c.433T>G (p.Leu145Val)
c.453T>G (p.Thr151=)
c.409T>G (p.Leu137Val)
c.330T>G (p.Thr110=)
Xg.108085123A>GCA517921239PSMD10c.532T>C (p.Leu178=)
c.433T>C (p.Leu145=)
c.453T>C (p.Thr151=)
c.409T>C (p.Leu137=)
c.330T>C (p.Thr110=)
Xg.108085123A>TCA413841815PSMD10c.532T>A (p.Leu178Ile)
c.433T>A (p.Leu145Ile)
c.453T>A (p.Thr151=)
c.409T>A (p.Leu137Ile)
c.330T>A (p.Thr110=)
Xg.108085124G>ACA413841816PSMD10c.531C>T (p.His177=)
c.432C>T (p.His144=)
c.452C>T (p.Thr151Ile)
c.408C>T (p.His136=)
c.329C>T (p.Thr110Ile)
Xg.108085124G>CCA413841817PSMD10c.531C>G (p.His177Gln)
c.432C>G (p.His144Gln)
c.452C>G (p.Thr151Ser)
c.408C>G (p.His136Gln)
c.329C>G (p.Thr110Ser)
Xg.108085124G>TCA413841818PSMD10c.531C>A (p.His177Gln)
c.432C>A (p.His144Gln)
c.452C>A (p.Thr151Asn)
c.408C>A (p.His136Gln)
c.329C>A (p.Thr110Asn)
gnomAD v4
Xg.108085125T>ACA413841821PSMD10c.530A>T (p.His177Leu)
c.431A>T (p.His144Leu)
c.451A>T (p.Thr151Ser)
c.407A>T (p.His136Leu)
c.328A>T (p.Thr110Ser)
Xg.108085125T>CCA413841820PSMD10c.530A>G (p.His177Arg)
c.431A>G (p.His144Arg)
c.451A>G (p.Thr151Ala)
c.407A>G (p.His136Arg)
c.328A>G (p.Thr110Ala)
Xg.108085125T>GCA413841819PSMD10c.530A>C (p.His177Pro)
c.431A>C (p.His144Pro)
c.451A>C (p.Thr151Pro)
c.407A>C (p.His136Pro)
c.328A>C (p.Thr110Pro)
Xg.108085126G>ACA413841822PSMD10c.529C>T (p.His177Tyr)
c.430C>T (p.His144Tyr)
c.450C>T (p.Asp150=)
c.406C>T (p.His136Tyr)
c.327C>T (p.Asp109=)
Xg.108085126G>CCA413841823PSMD10c.529C>G (p.His177Asp)
c.430C>G (p.His144Asp)
c.450C>G (p.Asp150Glu)
c.406C>G (p.His136Asp)
c.327C>G (p.Asp109Glu)
Xg.108085126G>TCA413841824PSMD10c.529C>A (p.His177Asn)
c.430C>A (p.His144Asn)
c.450C>A (p.Asp150Glu)
c.406C>A (p.His136Asn)
c.327C>A (p.Asp109Glu)
Xg.108085127T>ACA413841825PSMD10c.528A>T (p.Leu176=)
c.429A>T (p.Leu143=)
c.449A>T (p.Asp150Val)
c.405A>T (p.Leu135=)
c.326A>T (p.Asp109Val)
Xg.108085127T>CCA413841826PSMD10c.528A>G (p.Leu176=)
c.429A>G (p.Leu143=)
c.449A>G (p.Asp150Gly)
c.405A>G (p.Leu135=)
c.326A>G (p.Asp109Gly)
gnomAD v4
Xg.108085127T>GCA413841827PSMD10c.528A>C (p.Leu176=)
c.429A>C (p.Leu143=)
c.449A>C (p.Asp150Ala)
c.405A>C (p.Leu135=)
c.326A>C (p.Asp109Ala)
Xg.108085127_108085128insAGAGGAGTGTTACA2738934023PSMD10c.528-1_528insTAACACTCCTCT (n.528-1_528insTAACACTCCTCT)
c.429-1_429insTAACACTCCTCT (n.429-1_429insTAACACTCCTCT)
c.449-1_449insTAACACTCCTCT (n.449-1_449insTAACACTCCTCT)
c.405-1_405insTAACACTCCTCT (n.405-1_405insTAACACTCCTCT)
c.326-1_326insTAACACTCCTCT (n.326-1_326insTAACACTCCTCT)
dbSNP
Xg.108085128C>ACA413841828PSMD10c.528-1G>T (n.528-1G>T)
c.429-1G>T (n.429-1G>T)
c.449-1G>T (n.449-1G>T)
c.405-1G>T (n.405-1G>T)
c.326-1G>T (n.326-1G>T)
Xg.108085128C>GCA413841830PSMD10c.528-1G>C (n.528-1G>C)
c.429-1G>C (n.429-1G>C)
c.449-1G>C (n.449-1G>C)
c.405-1G>C (n.405-1G>C)
c.326-1G>C (n.326-1G>C)
Xg.108085128C>TCA413841829PSMD10c.528-1G>A (n.528-1G>A)
c.429-1G>A (n.429-1G>A)
c.449-1G>A (n.449-1G>A)
c.405-1G>A (n.405-1G>A)
c.326-1G>A (n.326-1G>A)
gnomAD v4
Xg.108085128_108085129insCCTCAGTGTCTTGGATGTTTGCA2738934024PSMD10c.528-2_528-1insCAAACATCCAAGACACTGAGG (n.528-2_528-1insCAAACATCCAAGACACTGAGG)
c.429-2_429-1insCAAACATCCAAGACACTGAGG (n.429-2_429-1insCAAACATCCAAGACACTGAGG)
c.449-2_449-1insCAAACATCCAAGACACTGAGG (n.449-2_449-1insCAAACATCCAAGACACTGAGG)
c.405-2_405-1insCAAACATCCAAGACACTGAGG (n.405-2_405-1insCAAACATCCAAGACACTGAGG)
c.326-2_326-1insCAAACATCCAAGACACTGAGG (n.326-2_326-1insCAAACATCCAAGACACTGAGG)
dbSNP
Xg.108085129T>ACA413841831PSMD10c.528-2A>T (n.528-2A>T)
c.429-2A>T (n.429-2A>T)
c.449-2A>T (n.449-2A>T)
c.405-2A>T (n.405-2A>T)
c.326-2A>T (n.326-2A>T)
Xg.108085129T>CCA413841832PSMD10c.528-2A>G (n.528-2A>G)
c.429-2A>G (n.429-2A>G)
c.449-2A>G (n.449-2A>G)
c.405-2A>G (n.405-2A>G)
c.326-2A>G (n.326-2A>G)
gnomAD v4
Xg.108085129T>GCA413841833PSMD10c.528-2A>C (n.528-2A>C)
c.429-2A>C (n.429-2A>C)
c.449-2A>C (n.449-2A>C)
c.405-2A>C (n.405-2A>C)
c.326-2A>C (n.326-2A>C)

Number of alleles fetched