Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.53810712_53810713dupCA2342536848NLRP12c.948_949dup (p.Lys317ArgfsTer12)
c.780_781dup (p.Lys261ArgfsTer12)
c.531_532dup (p.Lys178ArgfsTer12)
 dbSNP gnomAD v4
19g.53810712T>ACA407415450NLRP12c.947A>T (p.Glu316Val)
c.779A>T (p.Glu260Val)
c.530A>T (p.Glu177Val)
19g.53810712T>CCA407415452NLRP12c.947A>G (p.Glu316Gly)
c.779A>G (p.Glu260Gly)
c.530A>G (p.Glu177Gly)
19g.53810712T>GCA407415454NLRP12c.947A>C (p.Glu316Ala)
c.779A>C (p.Glu260Ala)
c.530A>C (p.Glu177Ala)
19g.53810713C>ACA407415456NLRP12c.946G>T (p.Glu316Ter)
c.778G>T (p.Glu260Ter)
c.529G>T (p.Glu177Ter)
19g.53810713C>GCA407415458NLRP12c.946G>C (p.Glu316Gln)
c.778G>C (p.Glu260Gln)
c.529G>C (p.Glu177Gln)
19g.53810713C>TCA407415459NLRP12c.946G>A (p.Glu316Lys)
c.778G>A (p.Glu260Lys)
c.529G>A (p.Glu177Lys)
 gnomAD v4 COSMIC COSMIC
19g.53810714C>ACA407415460NLRP12c.945G>T (p.Glu315Asp)
c.777G>T (p.Glu259Asp)
c.528G>T (p.Glu176Asp)
19g.53810714C>GCA407415461NLRP12c.945G>C (p.Glu315Asp)
c.777G>C (p.Glu259Asp)
c.528G>C (p.Glu176Asp)
19g.53810714C>TCA508854815NLRP12c.945G>A (p.Glu315=)
c.777G>A (p.Glu259=)
c.528G>A (p.Glu176=)
19g.53810715T>ACA407415463NLRP12c.944A>T (p.Glu315Val)
c.776A>T (p.Glu259Val)
c.527A>T (p.Glu176Val)
 dbSNP gnomAD v2 gnomAD v4
19g.53810715T>CCA407415464NLRP12c.944A>G (p.Glu315Gly)
c.776A>G (p.Glu259Gly)
c.527A>G (p.Glu176Gly)
19g.53810715T>GCA407415462NLRP12c.944A>C (p.Glu315Ala)
c.776A>C (p.Glu259Ala)
c.527A>C (p.Glu176Ala)
19g.53810715T=CA2342536849NLRP12c.944A= (p.Glu315=)
c.776A= (p.Glu259=)
c.527A= (p.Glu176=)
19g.53810716C>ACA310070873NLRP12c.943G>T (p.Glu315Ter)
c.775G>T (p.Glu259Ter)
c.526G>T (p.Glu176Ter)
 dbSNP gnomAD v2 gnomAD v4
19g.53810716C=CA2342536850NLRP12c.943G= (p.Glu315=)
c.775G= (p.Glu259=)
c.526G= (p.Glu176=)
19g.53810716C>GCA9639566NLRP12c.943G>C (p.Glu315Gln)
c.775G>C (p.Glu259Gln)
c.526G>C (p.Glu176Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.53810716C>TCA9639567NLRP12c.943G>A (p.Glu315Lys)
c.775G>A (p.Glu259Lys)
c.526G>A (p.Glu176Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.53810718delCA508854823NLRP12c.943del (p.Glu315ArgfsTer13)
c.775del (p.Glu259ArgfsTer13)
c.526del (p.Glu176ArgfsTer13)
 COSMIC COSMIC
19g.53810717C>ACA407415465NLRP12c.942G>T (p.Trp314Cys)
c.774G>T (p.Trp258Cys)
c.525G>T (p.Trp175Cys)
19g.53810717C=CA2342536851NLRP12c.942G= (p.Trp314=)
c.774G= (p.Trp258=)
c.525G= (p.Trp175=)
19g.53810717C>GCA407415466NLRP12c.942G>C (p.Trp314Cys)
c.774G>C (p.Trp258Cys)
c.525G>C (p.Trp175Cys)
19g.53810717C>TCA9639568NLRP12c.942G>A (p.Trp314Ter)
c.774G>A (p.Trp258Ter)
c.525G>A (p.Trp175Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.53810718C>ACA407415467NLRP12c.941G>T (p.Trp314Leu)
c.773G>T (p.Trp258Leu)
c.524G>T (p.Trp175Leu)
19g.53810718C>GCA407415469NLRP12c.941G>C (p.Trp314Ser)
c.773G>C (p.Trp258Ser)
c.524G>C (p.Trp175Ser)
19g.53810718C>TCA407415468NLRP12c.941G>A (p.Trp314Ter)
c.773G>A (p.Trp258Ter)
c.524G>A (p.Trp175Ter)
19g.53810719A>CCA407415470NLRP12c.940T>G (p.Trp314Gly)
c.772T>G (p.Trp258Gly)
c.523T>G (p.Trp175Gly)
19g.53810719A>GCA407415471NLRP12c.940T>C (p.Trp314Arg)
c.772T>C (p.Trp258Arg)
c.523T>C (p.Trp175Arg)
 gnomAD v4
19g.53810719A>TCA407415472NLRP12c.940T>A (p.Trp314Arg)
c.772T>A (p.Trp258Arg)
c.523T>A (p.Trp175Arg)
19g.53810720G>ACA508854826NLRP12c.939C>T (p.Cys313=)
c.771C>T (p.Cys257=)
c.522C>T (p.Cys174=)
19g.53810720G>CCA407415473NLRP12c.939C>G (p.Cys313Trp)
c.771C>G (p.Cys257Trp)
c.522C>G (p.Cys174Trp)
19g.53810720G>TCA407415474NLRP12c.939C>A (p.Cys313Ter)
c.771C>A (p.Cys257Ter)
c.522C>A (p.Cys174Ter)
 dbSNP
19g.53810721C>ACA407415477NLRP12c.938G>T (p.Cys313Phe)
c.770G>T (p.Cys257Phe)
c.521G>T (p.Cys174Phe)
 gnomAD v4
19g.53810721C>GCA407415476NLRP12c.938G>C (p.Cys313Ser)
c.770G>C (p.Cys257Ser)
c.521G>C (p.Cys174Ser)
19g.53810721C>TCA407415475NLRP12c.938G>A (p.Cys313Tyr)
c.770G>A (p.Cys257Tyr)
c.521G>A (p.Cys174Tyr)
19g.53810722A=CA2342536852NLRP12c.937T= (p.Cys313=)
c.769T= (p.Cys257=)
c.520T= (p.Cys174=)
19g.53810722A>CCA9639569NLRP12c.937T>G (p.Cys313Gly)
c.769T>G (p.Cys257Gly)
c.520T>G (p.Cys174Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.53810722A>GCA407415478NLRP12c.937T>C (p.Cys313Arg)
c.769T>C (p.Cys257Arg)
c.520T>C (p.Cys174Arg)
19g.53810722A>TCA407415479NLRP12c.937T>A (p.Cys313Ser)
c.769T>A (p.Cys257Ser)
c.520T>A (p.Cys174Ser)
19g.53810723G>ACA508854832NLRP12c.936C>T (p.Leu312=)
c.768C>T (p.Leu256=)
c.519C>T (p.Leu173=)
19g.53810723G>CCA508854831NLRP12c.936C>G (p.Leu312=)
c.768C>G (p.Leu256=)
c.519C>G (p.Leu173=)
19g.53810723G>TCA508854830NLRP12c.936C>A (p.Leu312=)
c.768C>A (p.Leu256=)
c.519C>A (p.Leu173=)
19g.53810724A>CCA407415480NLRP12c.935T>G (p.Leu312Arg)
c.767T>G (p.Leu256Arg)
c.518T>G (p.Leu173Arg)
19g.53810724A>GCA407415481NLRP12c.935T>C (p.Leu312Pro)
c.767T>C (p.Leu256Pro)
c.518T>C (p.Leu173Pro)
 COSMIC COSMIC
19g.53810724A>TCA407415482NLRP12c.935T>A (p.Leu312His)
c.767T>A (p.Leu256His)
c.518T>A (p.Leu173His)
19g.53810725G>ACA407415485NLRP12c.934C>T (p.Leu312Phe)
c.766C>T (p.Leu256Phe)
c.517C>T (p.Leu173Phe)
19g.53810725G>CCA407415483NLRP12c.934C>G (p.Leu312Val)
c.766C>G (p.Leu256Val)
c.517C>G (p.Leu173Val)
19g.53810725G>TCA407415484NLRP12c.934C>A (p.Leu312Ile)
c.766C>A (p.Leu256Ile)
c.517C>A (p.Leu173Ile)
19g.53810726G>ACA508854834NLRP12c.933C>T (p.Cys311=)
c.765C>T (p.Cys255=)
c.516C>T (p.Cys172=)
 dbSNP
19g.53810726G>CCA407415486NLRP12c.933C>G (p.Cys311Trp)
c.765C>G (p.Cys255Trp)
c.516C>G (p.Cys172Trp)
19g.53810726G=CA2342536853NLRP12c.933C= (p.Cys311=)
c.765C= (p.Cys255=)
c.516C= (p.Cys172=)
19g.53810726G>TCA407415487NLRP12c.933C>A (p.Cys311Ter)
c.765C>A (p.Cys255Ter)
c.516C>A (p.Cys172Ter)
19g.53810727C>ACA407415488NLRP12c.932G>T (p.Cys311Phe)
c.764G>T (p.Cys255Phe)
c.515G>T (p.Cys172Phe)
19g.53810727C=CA2342536854NLRP12c.932G= (p.Cys311=)
c.764G= (p.Cys255=)
c.515G= (p.Cys172=)
19g.53810727C>GCA407415489NLRP12c.932G>C (p.Cys311Ser)
c.764G>C (p.Cys255Ser)
c.515G>C (p.Cys172Ser)
19g.53810727C>TCA310070874NLRP12c.932G>A (p.Cys311Tyr)
c.764G>A (p.Cys255Tyr)
c.515G>A (p.Cys172Tyr)
 dbSNP
19g.53810728A>CCA407415492NLRP12c.931T>G (p.Cys311Gly)
c.763T>G (p.Cys255Gly)
c.514T>G (p.Cys172Gly)
19g.53810728A>GCA407415490NLRP12c.931T>C (p.Cys311Arg)
c.763T>C (p.Cys255Arg)
c.514T>C (p.Cys172Arg)
19g.53810728A>TCA407415491NLRP12c.931T>A (p.Cys311Ser)
c.763T>A (p.Cys255Ser)
c.514T>A (p.Cys172Ser)
19g.53810729C>ACA407415493NLRP12c.930G>T (p.Trp310Cys)
c.762G>T (p.Trp254Cys)
c.513G>T (p.Trp171Cys)
19g.53810729C=CA2342536855NLRP12c.930G= (p.Trp310=)
c.762G= (p.Trp254=)
c.513G= (p.Trp171=)
19g.53810729C>GCA407415494NLRP12c.930G>C (p.Trp310Cys)
c.762G>C (p.Trp254Cys)
c.513G>C (p.Trp171Cys)
19g.53810729C>TCA407415495NLRP12c.930G>A (p.Trp310Ter)
c.762G>A (p.Trp254Ter)
c.513G>A (p.Trp171Ter)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
19g.53810730C>ACA407415496NLRP12c.929G>T (p.Trp310Leu)
c.761G>T (p.Trp254Leu)
c.512G>T (p.Trp171Leu)
 COSMIC COSMIC
19g.53810730C=CA2342536856NLRP12c.929G= (p.Trp310=)
c.761G= (p.Trp254=)
c.512G= (p.Trp171=)
19g.53810730C>GCA407415497NLRP12c.929G>C (p.Trp310Ser)
c.761G>C (p.Trp254Ser)
c.512G>C (p.Trp171Ser)
19g.53810730C>TCA407415498NLRP12c.929G>A (p.Trp310Ter)
c.761G>A (p.Trp254Ter)
c.512G>A (p.Trp171Ter)
 dbSNP gnomAD v2 gnomAD v4
19g.53810731A=CA2342536857NLRP12c.928T= (p.Trp310=)
c.760T= (p.Trp254=)
c.511T= (p.Trp171=)
19g.53810731A>CCA407415499NLRP12c.928T>G (p.Trp310Gly)
c.760T>G (p.Trp254Gly)
c.511T>G (p.Trp171Gly)
19g.53810731A>GCA407415500NLRP12c.928T>C (p.Trp310Arg)
c.760T>C (p.Trp254Arg)
c.511T>C (p.Trp171Arg)
 dbSNP gnomAD v3 gnomAD v4
19g.53810731A>TCA407415501NLRP12c.928T>A (p.Trp310Arg)
c.760T>A (p.Trp254Arg)
c.511T>A (p.Trp171Arg)
19g.53810732G>ACA508854840NLRP12c.927C>T (p.Pro309=)
c.759C>T (p.Pro253=)
c.510C>T (p.Pro170=)
 gnomAD v4
19g.53810732G>CCA508854841NLRP12c.927C>G (p.Pro309=)
c.759C>G (p.Pro253=)
c.510C>G (p.Pro170=)
19g.53810732G>TCA508854843NLRP12c.927C>A (p.Pro309=)
c.759C>A (p.Pro253=)
c.510C>A (p.Pro170=)
19g.53810733G>ACA407415502NLRP12c.926C>T (p.Pro309Leu)
c.758C>T (p.Pro253Leu)
c.509C>T (p.Pro170Leu)
 gnomAD v4
19g.53810733G>CCA407415503NLRP12c.926C>G (p.Pro309Arg)
c.758C>G (p.Pro253Arg)
c.509C>G (p.Pro170Arg)
 dbSNP gnomAD v4
19g.53810733G=CA2342536858NLRP12c.926C= (p.Pro309=)
c.758C= (p.Pro253=)
c.509C= (p.Pro170=)
19g.53810733G>TCA407415504NLRP12c.926C>A (p.Pro309His)
c.758C>A (p.Pro253His)
c.509C>A (p.Pro170His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.53810734G>ACA407415507NLRP12c.925C>T (p.Pro309Ser)
c.757C>T (p.Pro253Ser)
c.508C>T (p.Pro170Ser)
 dbSNP
19g.53810734G>CCA407415505NLRP12c.925C>G (p.Pro309Ala)
c.757C>G (p.Pro253Ala)
c.508C>G (p.Pro170Ala)
 gnomAD v4
19g.53810734G=CA2342536859NLRP12c.925C= (p.Pro309=)
c.757C= (p.Pro253=)
c.508C= (p.Pro170=)
19g.53810734G>TCA407415506NLRP12c.925C>A (p.Pro309Thr)
c.757C>A (p.Pro253Thr)
c.508C>A (p.Pro170Thr)
19g.53810735T>ACA508854845NLRP12c.924A>T (p.Gly308=)
c.756A>T (p.Gly252=)
c.507A>T (p.Gly169=)
19g.53810735T>CCA508854847NLRP12c.924A>G (p.Gly308=)
c.756A>G (p.Gly252=)
c.507A>G (p.Gly169=)
19g.53810735T>GCA508854846NLRP12c.924A>C (p.Gly308=)
c.756A>C (p.Gly252=)
c.507A>C (p.Gly169=)
 ClinVar dbSNP
19g.53810736C>ACA407415508NLRP12c.923G>T (p.Gly308Val)
c.755G>T (p.Gly252Val)
c.506G>T (p.Gly169Val)
 COSMIC COSMIC
19g.53810736C>GCA407415509NLRP12c.923G>C (p.Gly308Ala)
c.755G>C (p.Gly252Ala)
c.506G>C (p.Gly169Ala)
19g.53810736C>TCA407415510NLRP12c.923G>A (p.Gly308Glu)
c.755G>A (p.Gly252Glu)
c.506G>A (p.Gly169Glu)
 gnomAD v4 COSMIC COSMIC
19g.53810738dupCA2586956540NLRP12c.923dup (p.Pro309ThrfsTer17)
c.755dup (p.Pro253ThrfsTer17)
c.506dup (p.Pro170ThrfsTer17)
 gnomAD v4
19g.53810737C>ACA407415511NLRP12c.922G>T (p.Gly308Ter)
c.754G>T (p.Gly252Ter)
c.505G>T (p.Gly169Ter)
19g.53810737C=CA2342536860NLRP12c.922G= (p.Gly308=)
c.754G= (p.Gly252=)
c.505G= (p.Gly169=)
19g.53810737C>GCA407415512NLRP12c.922G>C (p.Gly308Arg)
c.754G>C (p.Gly252Arg)
c.505G>C (p.Gly169Arg)
 gnomAD v4
19g.53810737C>TCA407415513NLRP12c.922G>A (p.Gly308Arg)
c.754G>A (p.Gly252Arg)
c.505G>A (p.Gly169Arg)
 dbSNP gnomAD v2 gnomAD v4
19g.53810738C>ACA407415515NLRP12c.921G>T (p.Gln307His)
c.753G>T (p.Gln251His)
c.504G>T (p.Gln168His)
19g.53810738C>GCA407415514NLRP12c.921G>C (p.Gln307His)
c.753G>C (p.Gln251His)
c.504G>C (p.Gln168His)
 gnomAD v4
19g.53810738C>TCA508854151NLRP12c.921G>A (p.Gln307=)
c.753G>A (p.Gln251=)
c.504G>A (p.Gln168=)
19g.53810739T>ACA407415516NLRP12c.920A>T (p.Gln307Leu)
c.752A>T (p.Gln251Leu)
c.503A>T (p.Gln168Leu)
19g.53810739T>CCA9639570NLRP12c.920A>G (p.Gln307Arg)
c.752A>G (p.Gln251Arg)
c.503A>G (p.Gln168Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.53810739T>GCA407415517NLRP12c.920A>C (p.Gln307Pro)
c.752A>C (p.Gln251Pro)
c.503A>C (p.Gln168Pro)
19g.53810739T=CA2342536861NLRP12c.920A= (p.Gln307=)
c.752A= (p.Gln251=)
c.503A= (p.Gln168=)
19g.53810740G>ACA407415518NLRP12c.919C>T (p.Gln307Ter)
c.751C>T (p.Gln251Ter)
c.502C>T (p.Gln168Ter)
19g.53810740G>CCA407415519NLRP12c.919C>G (p.Gln307Glu)
c.751C>G (p.Gln251Glu)
c.502C>G (p.Gln168Glu)
19g.53810740G>TCA407415520NLRP12c.919C>A (p.Gln307Lys)
c.751C>A (p.Gln251Lys)
c.502C>A (p.Gln168Lys)
19g.53810741A>CCA508854153NLRP12c.918T>G (p.Pro306=)
c.750T>G (p.Pro250=)
c.501T>G (p.Pro167=)
19g.53810741A>GCA508854154NLRP12c.918T>C (p.Pro306=)
c.750T>C (p.Pro250=)
c.501T>C (p.Pro167=)
19g.53810741A>TCA508854155NLRP12c.918T>A (p.Pro306=)
c.750T>A (p.Pro250=)
c.501T>A (p.Pro167=)
19g.53810742G>ACA310070877NLRP12c.917C>T (p.Pro306Leu)
c.749C>T (p.Pro250Leu)
c.500C>T (p.Pro167Leu)
 ClinVar dbSNP
19g.53810742G>CCA407415522NLRP12c.917C>G (p.Pro306Arg)
c.749C>G (p.Pro250Arg)
c.500C>G (p.Pro167Arg)
19g.53810742G=CA2342536862NLRP12c.917C= (p.Pro306=)
c.749C= (p.Pro250=)
c.500C= (p.Pro167=)
19g.53810742G>TCA407415521NLRP12c.917C>A (p.Pro306His)
c.749C>A (p.Pro250His)
c.500C>A (p.Pro167His)
19g.53810743G>ACA407415523NLRP12c.916C>T (p.Pro306Ser)
c.748C>T (p.Pro250Ser)
c.499C>T (p.Pro167Ser)
 COSMIC COSMIC
19g.53810743G>CCA407415524NLRP12c.916C>G (p.Pro306Ala)
c.748C>G (p.Pro250Ala)
c.499C>G (p.Pro167Ala)
 dbSNP
19g.53810743G>TCA407415525NLRP12c.916C>A (p.Pro306Thr)
c.748C>A (p.Pro250Thr)
c.499C>A (p.Pro167Thr)
19g.53810744A>CCA407415526NLRP12c.915T>G (p.Asp305Glu)
c.747T>G (p.Asp249Glu)
c.498T>G (p.Asp166Glu)
19g.53810744A>GCA508854157NLRP12c.915T>C (p.Asp305=)
c.747T>C (p.Asp249=)
c.498T>C (p.Asp166=)
19g.53810744A>TCA407415527NLRP12c.915T>A (p.Asp305Glu)
c.747T>A (p.Asp249Glu)
c.498T>A (p.Asp166Glu)
19g.53810745T>ACA407415528NLRP12c.914A>T (p.Asp305Val)
c.746A>T (p.Asp249Val)
c.497A>T (p.Asp166Val)
19g.53810745T>CCA407415529NLRP12c.914A>G (p.Asp305Gly)
c.746A>G (p.Asp249Gly)
c.497A>G (p.Asp166Gly)
19g.53810745T>GCA407415530NLRP12c.914A>C (p.Asp305Ala)
c.746A>C (p.Asp249Ala)
c.497A>C (p.Asp166Ala)
19g.53810746C>ACA407415531NLRP12c.913G>T (p.Asp305Tyr)
c.745G>T (p.Asp249Tyr)
c.496G>T (p.Asp166Tyr)
19g.53810746C=CA2342536863NLRP12c.913G= (p.Asp305=)
c.745G= (p.Asp249=)
c.496G= (p.Asp166=)
19g.53810746C>GCA407415532NLRP12c.913G>C (p.Asp305His)
c.745G>C (p.Asp249His)
c.496G>C (p.Asp166His)
 ClinVar
19g.53810746C>TCA9639571NLRP12c.913G>A (p.Asp305Asn)
c.745G>A (p.Asp249Asn)
c.496G>A (p.Asp166Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
19g.53810747G>ACA9639572NLRP12c.912C>T (p.His304=)
c.744C>T (p.His248=)
c.495C>T (p.His165=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.53810747G>CCA407415533NLRP12c.912C>G (p.His304Gln)
c.744C>G (p.His248Gln)
c.495C>G (p.His165Gln)
19g.53810747G=CA2342536864NLRP12c.912C= (p.His304=)
c.744C= (p.His248=)
c.495C= (p.His165=)
19g.53810747G>TCA407415534NLRP12c.912C>A (p.His304Gln)
c.744C>A (p.His248Gln)
c.495C>A (p.His165Gln)
 ClinVar COSMIC
19g.53810748T>ACA407415535NLRP12c.911A>T (p.His304Leu)
c.743A>T (p.His248Leu)
c.494A>T (p.His165Leu)
19g.53810748T>CCA407415536NLRP12c.911A>G (p.His304Arg)
c.743A>G (p.His248Arg)
c.494A>G (p.His165Arg)
19g.53810748T>GCA407415537NLRP12c.911A>C (p.His304Pro)
c.743A>C (p.His248Pro)
c.494A>C (p.His165Pro)
19g.53810749G>ACA9639573NLRP12c.910C>T (p.His304Tyr)
c.742C>T (p.His248Tyr)
c.493C>T (p.His165Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.53810749G>CCA407415538NLRP12c.910C>G (p.His304Asp)
c.742C>G (p.His248Asp)
c.493C>G (p.His165Asp)
19g.53810749G=CA2342536865NLRP12c.910C= (p.His304=)
c.742C= (p.His248=)
c.493C= (p.His165=)
19g.53810749G>TCA407415539NLRP12c.910C>A (p.His304Asn)
c.742C>A (p.His248Asn)
c.493C>A (p.His165Asn)
19g.53810750delCA2735974188NLRP12c.910del (p.His304ThrfsTer24)
c.742del (p.His248ThrfsTer24)
c.493del (p.His165ThrfsTer24)
 dbSNP
19g.53810750G>ACA508854160NLRP12c.909C>T (p.Phe303=)
c.741C>T (p.Phe247=)
c.492C>T (p.Phe164=)
19g.53810750G>CCA407415540NLRP12c.909C>G (p.Phe303Leu)
c.741C>G (p.Phe247Leu)
c.492C>G (p.Phe164Leu)
19g.53810750G>TCA407415541NLRP12c.909C>A (p.Phe303Leu)
c.741C>A (p.Phe247Leu)
c.492C>A (p.Phe164Leu)
19g.53810750_53810751delinsGACA2342536866NLRP12c.908_909delinsTC (p.Phe303=)
c.740_741delinsTC (p.Phe247=)
c.491_492delinsTC (p.Phe164=)
19g.53810751A>CCA407415542NLRP12c.908T>G (p.Phe303Cys)
c.740T>G (p.Phe247Cys)
c.491T>G (p.Phe164Cys)
19g.53810751A>GCA407415544NLRP12c.908T>C (p.Phe303Ser)
c.740T>C (p.Phe247Ser)
c.491T>C (p.Phe164Ser)
19g.53810751A>TCA407415543NLRP12c.908T>A (p.Phe303Tyr)
c.740T>A (p.Phe247Tyr)
c.491T>A (p.Phe164Tyr)
19g.53810753delCA9639574NLRP12c.908del (p.Phe303SerfsTer25)
c.740del (p.Phe247SerfsTer25)
c.491del (p.Phe164SerfsTer25)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.53810751_53810754delinsAAAGCA2342536867NLRP12c.905_908delinsCTTT (p.Ser302=)
c.737_740delinsCTTT (p.Ser246=)
c.488_491delinsCTTT (p.Ser163=)
19g.53810752A>CCA407415545NLRP12c.907T>G (p.Phe303Val)
c.739T>G (p.Phe247Val)
c.490T>G (p.Phe164Val)
19g.53810752A>GCA407415546NLRP12c.907T>C (p.Phe303Leu)
c.739T>C (p.Phe247Leu)
c.490T>C (p.Phe164Leu)
19g.53810752A>TCA407415547NLRP12c.907T>A (p.Phe303Ile)
c.739T>A (p.Phe247Ile)
c.490T>A (p.Phe164Ile)
19g.53810755_53810757delCA633905314NLRP12c.905_907del (p.Ser302del)
c.737_739del (p.Ser246del)
c.488_490del (p.Ser163del)
 dbSNP gnomAD v2 gnomAD v4
19g.53810753A>CCA508854166NLRP12c.906T>G (p.Ser302=)
c.738T>G (p.Ser246=)
c.489T>G (p.Ser163=)
19g.53810753A>GCA508854167NLRP12c.906T>C (p.Ser302=)
c.738T>C (p.Ser246=)
c.489T>C (p.Ser163=)
19g.53810753A>TCA508854168NLRP12c.906T>A (p.Ser302=)
c.738T>A (p.Ser246=)
c.489T>A (p.Ser163=)
19g.53810754_53810755delCA2586956541NLRP12c.905_906del (p.Ser302PhefsTer23)
c.737_738del (p.Ser246PhefsTer23)
c.488_489del (p.Ser163PhefsTer23)
 gnomAD v4
19g.53810753_53810770delinsAGAAGGCTTGAGCTCATCCA2342536868NLRP12c.889_906delinsGATGAGCTCAAGCCTTCT (p.Asp297=)
c.721_738delinsGATGAGCTCAAGCCTTCT (p.Asp241=)
c.472_489delinsGATGAGCTCAAGCCTTCT (p.Asp158=)
19g.53810754G>ACA407415548NLRP12c.905C>T (p.Ser302Phe)
c.737C>T (p.Ser246Phe)
c.488C>T (p.Ser163Phe)
19g.53810754G>CCA407415550NLRP12c.905C>G (p.Ser302Cys)
c.737C>G (p.Ser246Cys)
c.488C>G (p.Ser163Cys)
 dbSNP gnomAD v4
19g.53810754G=CA2342536869NLRP12c.905C= (p.Ser302=)
c.737C= (p.Ser246=)
c.488C= (p.Ser163=)
19g.53810754G>TCA407415549NLRP12c.905C>A (p.Ser302Tyr)
c.737C>A (p.Ser246Tyr)
c.488C>A (p.Ser163Tyr)
19g.53810758_53810774delCA9639575NLRP12c.889_905del (p.Asp297PhefsTer23)
c.721_737del (p.Asp241PhefsTer23)
c.472_488del (p.Asp158PhefsTer23)
 dbSNP ExAC gnomAD v3 gnomAD v4
19g.53810755A=CA2342536870NLRP12c.904T= (p.Ser302=)
c.736T= (p.Ser246=)
c.487T= (p.Ser163=)
19g.53810755A>CCA407415551NLRP12c.904T>G (p.Ser302Ala)
c.736T>G (p.Ser246Ala)
c.487T>G (p.Ser163Ala)
19g.53810755A>GCA407415552NLRP12c.904T>C (p.Ser302Pro)
c.736T>C (p.Ser246Pro)
c.487T>C (p.Ser163Pro)
 ClinVar dbSNP gnomAD v4
19g.53810755A>TCA407415553NLRP12c.904T>A (p.Ser302Thr)
c.736T>A (p.Ser246Thr)
c.487T>A (p.Ser163Thr)
19g.53810756A>CCA508854171NLRP12c.903T>G (p.Pro301=)
c.735T>G (p.Pro245=)
c.486T>G (p.Pro162=)
19g.53810756A>GCA508854172NLRP12c.903T>C (p.Pro301=)
c.735T>C (p.Pro245=)
c.486T>C (p.Pro162=)
19g.53810756A>TCA508854173NLRP12c.903T>A (p.Pro301=)
c.735T>A (p.Pro245=)
c.486T>A (p.Pro162=)
19g.53810757G>ACA407415554NLRP12c.902C>T (p.Pro301Leu)
c.734C>T (p.Pro245Leu)
c.485C>T (p.Pro162Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.53810757G>CCA407415555NLRP12c.902C>G (p.Pro301Arg)
c.734C>G (p.Pro245Arg)
c.485C>G (p.Pro162Arg)
19g.53810757G=CA2342536871NLRP12c.902C= (p.Pro301=)
c.734C= (p.Pro245=)
c.485C= (p.Pro162=)
19g.53810757G>TCA407415556NLRP12c.902C>A (p.Pro301His)
c.734C>A (p.Pro245His)
c.485C>A (p.Pro162His)
19g.53810758G>ACA9639576NLRP12c.901C>T (p.Pro301Ser)
c.733C>T (p.Pro245Ser)
c.484C>T (p.Pro162Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.53810758G>CCA407415557NLRP12c.901C>G (p.Pro301Ala)
c.733C>G (p.Pro245Ala)
c.484C>G (p.Pro162Ala)
19g.53810758G=CA2342536872NLRP12c.901C= (p.Pro301=)
c.733C= (p.Pro245=)
c.484C= (p.Pro162=)
19g.53810758G>TCA407415558NLRP12c.901C>A (p.Pro301Thr)
c.733C>A (p.Pro245Thr)
c.484C>A (p.Pro162Thr)
19g.53810759C>ACA407415559NLRP12c.900G>T (p.Lys300Asn)
c.732G>T (p.Lys244Asn)
c.483G>T (p.Lys161Asn)
19g.53810759C=CA2342536874NLRP12c.900G= (p.Lys300=)
c.732G= (p.Lys244=)
c.483G= (p.Lys161=)
19g.53810759C>GCA407415560NLRP12c.900G>C (p.Lys300Asn)
c.732G>C (p.Lys244Asn)
c.483G>C (p.Lys161Asn)
19g.53810759C>TCA508854177NLRP12c.900G>A (p.Lys300=)
c.732G>A (p.Lys244=)
c.483G>A (p.Lys161=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.53810759_53810760delinsCTCA2342536873NLRP12c.899_900delinsAG (p.Lys300=)
c.731_732delinsAG (p.Lys244=)
c.482_483delinsAG (p.Lys161=)
19g.53810760T>ACA407415563NLRP12c.899A>T (p.Lys300Met)
c.731A>T (p.Lys244Met)
c.482A>T (p.Lys161Met)
19g.53810760T>CCA407415561NLRP12c.899A>G (p.Lys300Arg)
c.731A>G (p.Lys244Arg)
c.482A>G (p.Lys161Arg)
19g.53810760T>GCA407415562NLRP12c.899A>C (p.Lys300Thr)
c.731A>C (p.Lys244Thr)
c.482A>C (p.Lys161Thr)
19g.53810761delCA9639577NLRP12c.899del (p.Lys300SerfsTer28)
c.731del (p.Lys244SerfsTer28)
c.482del (p.Lys161SerfsTer28)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.53810761T>ACA407415566NLRP12c.898A>T (p.Lys300Ter)
c.730A>T (p.Lys244Ter)
c.481A>T (p.Lys161Ter)
19g.53810761T>CCA407415564NLRP12c.898A>G (p.Lys300Glu)
c.730A>G (p.Lys244Glu)
c.481A>G (p.Lys161Glu)
19g.53810761T>GCA407415565NLRP12c.898A>C (p.Lys300Gln)
c.730A>C (p.Lys244Gln)
c.481A>C (p.Lys161Gln)
19g.53810762G>ACA508854181NLRP12c.897C>T (p.Leu299=)
c.729C>T (p.Leu243=)
c.480C>T (p.Leu160=)
19g.53810762G>CCA508854182NLRP12c.897C>G (p.Leu299=)
c.729C>G (p.Leu243=)
c.480C>G (p.Leu160=)
19g.53810762G>TCA508854183NLRP12c.897C>A (p.Leu299=)
c.729C>A (p.Leu243=)
c.480C>A (p.Leu160=)
19g.53810763A=CA2342536875NLRP12c.896T= (p.Leu299=)
c.728T= (p.Leu243=)
c.479T= (p.Leu160=)
19g.53810763A>CCA407415567NLRP12c.896T>G (p.Leu299Arg)
c.728T>G (p.Leu243Arg)
c.479T>G (p.Leu160Arg)
 ClinVar dbSNP
19g.53810763A>GCA407415568NLRP12c.896T>C (p.Leu299Pro)
c.728T>C (p.Leu243Pro)
c.479T>C (p.Leu160Pro)
19g.53810763A>TCA407415569NLRP12c.896T>A (p.Leu299His)
c.728T>A (p.Leu243His)
c.479T>A (p.Leu160His)
19g.53810764G>ACA407415570NLRP12c.895C>T (p.Leu299Phe)
c.727C>T (p.Leu243Phe)
c.478C>T (p.Leu160Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.53810764G>CCA407415571NLRP12c.895C>G (p.Leu299Val)
c.727C>G (p.Leu243Val)
c.478C>G (p.Leu160Val)
 gnomAD v4
19g.53810764G=CA2342536876NLRP12c.895C= (p.Leu299=)
c.727C= (p.Leu243=)
c.478C= (p.Leu160=)
19g.53810764G>TCA407415572NLRP12c.895C>A (p.Leu299Ile)
c.727C>A (p.Leu243Ile)
c.478C>A (p.Leu160Ile)
19g.53810765C>ACA407415573NLRP12c.894G>T (p.Glu298Asp)
c.726G>T (p.Glu242Asp)
c.477G>T (p.Glu159Asp)
19g.53810765C>GCA407415574NLRP12c.894G>C (p.Glu298Asp)
c.726G>C (p.Glu242Asp)
c.477G>C (p.Glu159Asp)
 gnomAD v4
19g.53810765C>TCA508854184NLRP12c.894G>A (p.Glu298=)
c.726G>A (p.Glu242=)
c.477G>A (p.Glu159=)
19g.53810766T>ACA407415575NLRP12c.893A>T (p.Glu298Val)
c.725A>T (p.Glu242Val)
c.476A>T (p.Glu159Val)
19g.53810766T>CCA407415576NLRP12c.893A>G (p.Glu298Gly)
c.725A>G (p.Glu242Gly)
c.476A>G (p.Glu159Gly)
19g.53810766T>GCA407415577NLRP12c.893A>C (p.Glu298Ala)
c.725A>C (p.Glu242Ala)
c.476A>C (p.Glu159Ala)
19g.53810767C>ACA407415578NLRP12c.892G>T (p.Glu298Ter)
c.724G>T (p.Glu242Ter)
c.475G>T (p.Glu159Ter)
19g.53810767C=CA2342536877NLRP12c.892G= (p.Glu298=)
c.724G= (p.Glu242=)
c.475G= (p.Glu159=)
19g.53810767C>GCA407415579NLRP12c.892G>C (p.Glu298Gln)
c.724G>C (p.Glu242Gln)
c.475G>C (p.Glu159Gln)
19g.53810767C>TCA9639578NLRP12c.892G>A (p.Glu298Lys)
c.724G>A (p.Glu242Lys)
c.475G>A (p.Glu159Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.53810768A>CCA407415580NLRP12c.891T>G (p.Asp297Glu)
c.723T>G (p.Asp241Glu)
c.474T>G (p.Asp158Glu)
 dbSNP
19g.53810768A>GCA508854186NLRP12c.891T>C (p.Asp297=)
c.723T>C (p.Asp241=)
c.474T>C (p.Asp158=)
19g.53810768A>TCA407415581NLRP12c.891T>A (p.Asp297Glu)
c.723T>A (p.Asp241Glu)
c.474T>A (p.Asp158Glu)
19g.53810769T>ACA407415582NLRP12c.890A>T (p.Asp297Val)
c.722A>T (p.Asp241Val)
c.473A>T (p.Asp158Val)
19g.53810769T>CCA407415583NLRP12c.890A>G (p.Asp297Gly)
c.722A>G (p.Asp241Gly)
c.473A>G (p.Asp158Gly)
19g.53810769T>GCA407415584NLRP12c.890A>C (p.Asp297Ala)
c.722A>C (p.Asp241Ala)
c.473A>C (p.Asp158Ala)
19g.53810770C>ACA407415585NLRP12c.889G>T (p.Asp297Tyr)
c.721G>T (p.Asp241Tyr)
c.472G>T (p.Asp158Tyr)
 gnomAD v4
19g.53810770C=CA2342536878NLRP12c.889G= (p.Asp297=)
c.721G= (p.Asp241=)
c.472G= (p.Asp158=)
19g.53810770C>GCA407415586NLRP12c.889G>C (p.Asp297His)
c.721G>C (p.Asp241His)
c.472G>C (p.Asp158His)
19g.53810770C>TCA407415587NLRP12c.889G>A (p.Asp297Asn)
c.721G>A (p.Asp241Asn)
c.472G>A (p.Asp158Asn)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.53810771G>ACA310070898NLRP12c.888C>T (p.Phe296=)
c.720C>T (p.Phe240=)
c.471C>T (p.Phe157=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.53810771G>CCA407415588NLRP12c.888C>G (p.Phe296Leu)
c.720C>G (p.Phe240Leu)
c.471C>G (p.Phe157Leu)
19g.53810771G=CA2342536879NLRP12c.888C= (p.Phe296=)
c.720C= (p.Phe240=)
c.471C= (p.Phe157=)
19g.53810771G>TCA407415589NLRP12c.888C>A (p.Phe296Leu)
c.720C>A (p.Phe240Leu)
c.471C>A (p.Phe157Leu)
19g.53810772A=CA2342536880NLRP12c.887T= (p.Phe296=)
c.719T= (p.Phe240=)
c.470T= (p.Phe157=)
19g.53810772A>CCA407415591NLRP12c.887T>G (p.Phe296Cys)
c.719T>G (p.Phe240Cys)
c.470T>G (p.Phe157Cys)
19g.53810772A>GCA9639579NLRP12c.887T>C (p.Phe296Ser)
c.719T>C (p.Phe240Ser)
c.470T>C (p.Phe157Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.53810772A>TCA407415590NLRP12c.887T>A (p.Phe296Tyr)
c.719T>A (p.Phe240Tyr)
c.470T>A (p.Phe157Tyr)
19g.53810773A>CCA407415592NLRP12c.886T>G (p.Phe296Val)
c.718T>G (p.Phe240Val)
c.469T>G (p.Phe157Val)
19g.53810773A>GCA407415594NLRP12c.886T>C (p.Phe296Leu)
c.718T>C (p.Phe240Leu)
c.469T>C (p.Phe157Leu)
19g.53810773A>TCA407415593NLRP12c.886T>A (p.Phe296Ile)
c.718T>A (p.Phe240Ile)
c.469T>A (p.Phe157Ile)
19g.53810774G>ACA508854192NLRP12c.885C>T (p.Gly295=)
c.717C>T (p.Gly239=)
c.468C>T (p.Gly156=)
19g.53810774G>CCA508854190NLRP12c.885C>G (p.Gly295=)
c.717C>G (p.Gly239=)
c.468C>G (p.Gly156=)
19g.53810774G=CA2342536881NLRP12c.885C= (p.Gly295=)
c.717C= (p.Gly239=)
c.468C= (p.Gly156=)
19g.53810774G>TCA310070912NLRP12c.885C>A (p.Gly295=)
c.717C>A (p.Gly239=)
c.468C>A (p.Gly156=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.53810774_53810776delinsGCCCA2342536882NLRP12c.883_885delinsGGC (p.Gly295=)
c.715_717delinsGGC (p.Gly239=)
c.466_468delinsGGC (p.Gly156=)
19g.53810775C>ACA407415595NLRP12c.884G>T (p.Gly295Val)
c.716G>T (p.Gly239Val)
c.467G>T (p.Gly156Val)
19g.53810775C>GCA407415596NLRP12c.884G>C (p.Gly295Ala)
c.716G>C (p.Gly239Ala)
c.467G>C (p.Gly156Ala)
19g.53810775C>TCA407415597NLRP12c.884G>A (p.Gly295Asp)
c.716G>A (p.Gly239Asp)
c.467G>A (p.Gly156Asp)
19g.53810775_53810776delCA9639580NLRP12c.883_884del (p.Gly295LeufsTer3)
c.715_716del (p.Gly239LeufsTer3)
c.466_467del (p.Gly156LeufsTer3)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.53810776C>ACA407415598NLRP12c.883G>T (p.Gly295Cys)
c.715G>T (p.Gly239Cys)
c.466G>T (p.Gly156Cys)
 gnomAD v4
19g.53810776C=CA2342536883NLRP12c.883G= (p.Gly295=)
c.715G= (p.Gly239=)
c.466G= (p.Gly156=)
19g.53810776C>GCA407415599NLRP12c.883G>C (p.Gly295Arg)
c.715G>C (p.Gly239Arg)
c.466G>C (p.Gly156Arg)
 gnomAD v4
19g.53810776C>TCA9639581NLRP12c.883G>A (p.Gly295Ser)
c.715G>A (p.Gly239Ser)
c.466G>A (p.Gly156Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
19g.53810777G>ACA9639582NLRP12c.882C>T (p.Asp294=)
c.714C>T (p.Asp238=)
c.465C>T (p.Asp155=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.53810777G>CCA9639583NLRP12c.882C>G (p.Asp294Glu)
c.714C>G (p.Asp238Glu)
c.465C>G (p.Asp155Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.53810777G=CA2342536884NLRP12c.882C= (p.Asp294=)
c.714C= (p.Asp238=)
c.465C= (p.Asp155=)
19g.53810777G>TCA407415600NLRP12c.882C>A (p.Asp294Glu)
c.714C>A (p.Asp238Glu)
c.465C>A (p.Asp155Glu)
19g.53810778T>ACA407415603NLRP12c.881A>T (p.Asp294Val)
c.713A>T (p.Asp238Val)
c.464A>T (p.Asp155Val)
19g.53810778T>CCA407415602NLRP12c.881A>G (p.Asp294Gly)
c.713A>G (p.Asp238Gly)
c.464A>G (p.Asp155Gly)
19g.53810778T>GCA407415601NLRP12c.881A>C (p.Asp294Ala)
c.713A>C (p.Asp238Ala)
c.464A>C (p.Asp155Ala)
19g.53810779C>ACA407415604NLRP12c.880G>T (p.Asp294Tyr)
c.712G>T (p.Asp238Tyr)
c.463G>T (p.Asp155Tyr)
19g.53810779C>GCA407415605NLRP12c.880G>C (p.Asp294His)
c.712G>C (p.Asp238His)
c.463G>C (p.Asp155His)
19g.53810779C>TCA407415606NLRP12c.880G>A (p.Asp294Asn)
c.712G>A (p.Asp238Asn)
c.463G>A (p.Asp155Asn)
 gnomAD v4 COSMIC COSMIC
19g.53810780G>ACA310070927NLRP12c.879C>T (p.Ile293=)
c.711C>T (p.Ile237=)
c.462C>T (p.Ile154=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.53810780G>CCA407415607NLRP12c.879C>G (p.Ile293Met)
c.711C>G (p.Ile237Met)
c.462C>G (p.Ile154Met)
19g.53810780G=CA2342536885NLRP12c.879C= (p.Ile293=)
c.711C= (p.Ile237=)
c.462C= (p.Ile154=)
19g.53810780G>TCA9639584NLRP12c.879C>A (p.Ile293=)
c.711C>A (p.Ile237=)
c.462C>A (p.Ile154=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.53810781A=CA2342536886NLRP12c.878T= (p.Ile293=)
c.710T= (p.Ile237=)
c.461T= (p.Ile154=)
19g.53810781A>CCA407415608NLRP12c.878T>G (p.Ile293Ser)
c.710T>G (p.Ile237Ser)
c.461T>G (p.Ile154Ser)
19g.53810781A>GCA9639585NLRP12c.878T>C (p.Ile293Thr)
c.710T>C (p.Ile237Thr)
c.461T>C (p.Ile154Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.53810781A>TCA407415609NLRP12c.878T>A (p.Ile293Asn)
c.710T>A (p.Ile237Asn)
c.461T>A (p.Ile154Asn)
19g.53810782T>ACA407415610NLRP12c.877A>T (p.Ile293Phe)
c.709A>T (p.Ile237Phe)
c.460A>T (p.Ile154Phe)
19g.53810782T>CCA407415611NLRP12c.877A>G (p.Ile293Val)
c.709A>G (p.Ile237Val)
c.460A>G (p.Ile154Val)
19g.53810782T>GCA407415612NLRP12c.877A>C (p.Ile293Leu)
c.709A>C (p.Ile237Leu)
c.460A>C (p.Ile154Leu)
19g.53810783G>ACA508854203NLRP12c.876C>T (p.Ile292=)
c.708C>T (p.Ile236=)
c.459C>T (p.Ile153=)
 COSMIC COSMIC
19g.53810783G>CCA407415613NLRP12c.876C>G (p.Ile292Met)
c.708C>G (p.Ile236Met)
c.459C>G (p.Ile153Met)
19g.53810783G>TCA508854204NLRP12c.876C>A (p.Ile292=)
c.708C>A (p.Ile236=)
c.459C>A (p.Ile153=)
19g.53810784A>CCA407415616NLRP12c.875T>G (p.Ile292Ser)
c.707T>G (p.Ile236Ser)
c.458T>G (p.Ile153Ser)
19g.53810784A>GCA407415615NLRP12c.875T>C (p.Ile292Thr)
c.707T>C (p.Ile236Thr)
c.458T>C (p.Ile153Thr)
19g.53810784A>TCA407415614NLRP12c.875T>A (p.Ile292Asn)
c.707T>A (p.Ile236Asn)
c.458T>A (p.Ile153Asn)
19g.53810785T>ACA407415617NLRP12c.874A>T (p.Ile292Phe)
c.706A>T (p.Ile236Phe)
c.457A>T (p.Ile153Phe)
 dbSNP
19g.53810785T>CCA407415618NLRP12c.874A>G (p.Ile292Val)
c.706A>G (p.Ile236Val)
c.457A>G (p.Ile153Val)
19g.53810785T>GCA407415619NLRP12c.874A>C (p.Ile292Leu)
c.706A>C (p.Ile236Leu)
c.457A>C (p.Ile153Leu)
19g.53810785T=CA2342536887NLRP12c.874A= (p.Ile292=)
c.706A= (p.Ile236=)
c.457A= (p.Ile153=)
19g.53810786G>ACA508854207NLRP12c.873C>T (p.Phe291=)
c.705C>T (p.Phe235=)
c.456C>T (p.Phe152=)
19g.53810786G>CCA407415620NLRP12c.873C>G (p.Phe291Leu)
c.705C>G (p.Phe235Leu)
c.456C>G (p.Phe152Leu)
 gnomAD v4
19g.53810786G>TCA407415621NLRP12c.873C>A (p.Phe291Leu)
c.705C>A (p.Phe235Leu)
c.456C>A (p.Phe152Leu)
19g.53810787A=CA2342536888NLRP12c.872T= (p.Phe291=)
c.704T= (p.Phe235=)
c.455T= (p.Phe152=)
19g.53810787A>CCA407415623NLRP12c.872T>G (p.Phe291Cys)
c.704T>G (p.Phe235Cys)
c.455T>G (p.Phe152Cys)
 dbSNP gnomAD v2
19g.53810787A>GCA9639586NLRP12c.872T>C (p.Phe291Ser)
c.704T>C (p.Phe235Ser)
c.455T>C (p.Phe152Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.53810787A>TCA407415622NLRP12c.872T>A (p.Phe291Tyr)
c.704T>A (p.Phe235Tyr)
c.455T>A (p.Phe152Tyr)
19g.53810790delCA2586956542NLRP12c.872del (p.Phe291SerfsTer?)
c.704del (p.Phe235SerfsTer?)
c.455del (p.Phe152SerfsTer?)
 dbSNP gnomAD v4
19g.53810788A>CCA407415624NLRP12c.871T>G (p.Phe291Val)
c.703T>G (p.Phe235Val)
c.454T>G (p.Phe152Val)
19g.53810788A>GCA407415625NLRP12c.871T>C (p.Phe291Leu)
c.703T>C (p.Phe235Leu)
c.454T>C (p.Phe152Leu)
19g.53810788A>TCA407415626NLRP12c.871T>A (p.Phe291Ile)
c.703T>A (p.Phe235Ile)
c.454T>A (p.Phe152Ile)
19g.53810789A>CCA508854209NLRP12c.870T>G (p.Leu290=)
c.702T>G (p.Leu234=)
c.453T>G (p.Leu151=)
19g.53810789A>GCA508854210NLRP12c.870T>C (p.Leu290=)
c.702T>C (p.Leu234=)
c.453T>C (p.Leu151=)
19g.53810789A>TCA508854211NLRP12c.870T>A (p.Leu290=)
c.702T>A (p.Leu234=)
c.453T>A (p.Leu151=)
19g.53810789_53810791delCA2573156816NLRP12c.868_870del (p.Leu290del)
c.700_702del (p.Leu234del)
c.451_453del (p.Leu151del)
 ClinVar dbSNP gnomAD v4
19g.53810790A>CCA407415627NLRP12c.869T>G (p.Leu290Arg)
c.701T>G (p.Leu234Arg)
c.452T>G (p.Leu151Arg)
19g.53810790A>GCA407415628NLRP12c.869T>C (p.Leu290Pro)
c.701T>C (p.Leu234Pro)
c.452T>C (p.Leu151Pro)
19g.53810790A>TCA407415629NLRP12c.869T>A (p.Leu290His)
c.701T>A (p.Leu234His)
c.452T>A (p.Leu151His)
19g.53810791G>ACA407415630NLRP12c.868C>T (p.Leu290Phe)
c.700C>T (p.Leu234Phe)
c.451C>T (p.Leu151Phe)
 gnomAD v4
19g.53810791G>CCA407415632NLRP12c.868C>G (p.Leu290Val)
c.700C>G (p.Leu234Val)
c.451C>G (p.Leu151Val)
19g.53810791G>TCA407415631NLRP12c.868C>A (p.Leu290Ile)
c.700C>A (p.Leu234Ile)
c.451C>A (p.Leu151Ile)
19g.53810792G>ACA9639587NLRP12c.867C>T (p.Leu289=)
c.699C>T (p.Leu233=)
c.450C>T (p.Leu150=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.53810792G>CCA508854215NLRP12c.867C>G (p.Leu289=)
c.699C>G (p.Leu233=)
c.450C>G (p.Leu150=)
19g.53810792G=CA2342536889NLRP12c.867C= (p.Leu289=)
c.699C= (p.Leu233=)
c.450C= (p.Leu150=)
19g.53810792G>TCA508854217NLRP12c.867C>A (p.Leu289=)
c.699C>A (p.Leu233=)
c.450C>A (p.Leu150=)
 gnomAD v4
19g.53810799_53810830dupCA2580097747NLRP12c.836_867dup (p.Leu290SerfsTer?)
c.668_699dup (p.Leu234SerfsTer?)
c.419_450dup (p.Leu151SerfsTer?)
 ClinVar gnomAD v4
19g.53810793A>CCA407415633NLRP12c.866T>G (p.Leu289Arg)
c.698T>G (p.Leu233Arg)
c.449T>G (p.Leu150Arg)
19g.53810793A>GCA407415634NLRP12c.866T>C (p.Leu289Pro)
c.698T>C (p.Leu233Pro)
c.449T>C (p.Leu150Pro)
19g.53810793A>TCA407415635NLRP12c.866T>A (p.Leu289His)
c.698T>A (p.Leu233His)
c.449T>A (p.Leu150His)
19g.53810794G>ACA407415636NLRP12c.865C>T (p.Leu289Phe)
c.697C>T (p.Leu233Phe)
c.448C>T (p.Leu150Phe)
 gnomAD v4
19g.53810794G>CCA407415637NLRP12c.865C>G (p.Leu289Val)
c.697C>G (p.Leu233Val)
c.448C>G (p.Leu150Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.53810794G=CA2342536890NLRP12c.865C= (p.Leu289=)
c.697C= (p.Leu233=)
c.448C= (p.Leu150=)
19g.53810794G>TCA407415638NLRP12c.865C>A (p.Leu289Ile)
c.697C>A (p.Leu233Ile)
c.448C>A (p.Leu150Ile)
19g.53810795G>ACA508854220NLRP12c.864C>T (p.Arg288=)
c.696C>T (p.Arg232=)
c.447C>T (p.Arg149=)
 gnomAD v4
19g.53810795G>CCA508854219NLRP12c.864C>G (p.Arg288=)
c.696C>G (p.Arg232=)
c.447C>G (p.Arg149=)
19g.53810795G>TCA508854218NLRP12c.864C>A (p.Arg288=)
c.696C>A (p.Arg232=)
c.447C>A (p.Arg149=)
19g.53810796C>ACA407415639NLRP12c.863G>T (p.Arg288Leu)
c.695G>T (p.Arg232Leu)
c.446G>T (p.Arg149Leu)
19g.53810796C=CA2342536891NLRP12c.863G= (p.Arg288=)
c.695G= (p.Arg232=)
c.446G= (p.Arg149=)
19g.53810796C>GCA407415640NLRP12c.863G>C (p.Arg288Pro)
c.695G>C (p.Arg232Pro)
c.446G>C (p.Arg149Pro)
19g.53810796C>TCA9639588NLRP12c.863G>A (p.Arg288His)
c.695G>A (p.Arg232His)
c.446G>A (p.Arg149His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.53810797G>ACA9639589NLRP12c.862C>T (p.Arg288Cys)
c.694C>T (p.Arg232Cys)
c.445C>T (p.Arg149Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.53810797G>CCA407415642NLRP12c.862C>G (p.Arg288Gly)
c.694C>G (p.Arg232Gly)
c.445C>G (p.Arg149Gly)
19g.53810797G=CA2342536892NLRP12c.862C= (p.Arg288=)
c.694C= (p.Arg232=)
c.445C= (p.Arg149=)
19g.53810797G>TCA407415641NLRP12c.862C>A (p.Arg288Ser)
c.694C>A (p.Arg232Ser)
c.445C>A (p.Arg149Ser)
 dbSNP gnomAD v2 gnomAD v4
19g.53810798C>ACA407415643NLRP12c.861G>T (p.Glu287Asp)
c.693G>T (p.Glu231Asp)
c.444G>T (p.Glu148Asp)
19g.53810798C=CA2342536893NLRP12c.861G= (p.Glu287=)
c.693G= (p.Glu231=)
c.444G= (p.Glu148=)
19g.53810798C>GCA407415644NLRP12c.861G>C (p.Glu287Asp)
c.693G>C (p.Glu231Asp)
c.444G>C (p.Glu148Asp)
19g.53810798C>TCA9639590NLRP12c.861G>A (p.Glu287=)
c.693G>A (p.Glu231=)
c.444G>A (p.Glu148=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.53810803_53810810delCA2586956543NLRP12c.854_861del (p.Val285AlafsTer11)
c.686_693del (p.Val229AlafsTer11)
c.437_444del (p.Val146AlafsTer11)
 gnomAD v4
19g.53810799T>ACA407415645NLRP12c.860A>T (p.Glu287Val)
c.692A>T (p.Glu231Val)
c.443A>T (p.Glu148Val)
19g.53810799T>CCA407415646NLRP12c.860A>G (p.Glu287Gly)
c.692A>G (p.Glu231Gly)
c.443A>G (p.Glu148Gly)
19g.53810799T>GCA407415647NLRP12c.860A>C (p.Glu287Ala)
c.692A>C (p.Glu231Ala)
c.443A>C (p.Glu148Ala)
19g.53810800C>ACA407415648NLRP12c.859G>T (p.Glu287Ter)
c.691G>T (p.Glu231Ter)
c.442G>T (p.Glu148Ter)
19g.53810800C=CA2342536894NLRP12c.859G= (p.Glu287=)
c.691G= (p.Glu231=)
c.442G= (p.Glu148=)
19g.53810800C>GCA407415649NLRP12c.859G>C (p.Glu287Gln)
c.691G>C (p.Glu231Gln)
c.442G>C (p.Glu148Gln)
 gnomAD v4
19g.53810800C>TCA9639591NLRP12c.859G>A (p.Glu287Lys)
c.691G>A (p.Glu231Lys)
c.442G>A (p.Glu148Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.53810801G>ACA9639592NLRP12c.858C>T (p.Pro286=)
c.690C>T (p.Pro230=)
c.441C>T (p.Pro147=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.53810801G>CCA210450NLRP12c.858C>G (p.Pro286=)
c.690C>G (p.Pro230=)
c.441C>G (p.Pro147=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.53810801G=CA2342536895NLRP12c.858C= (p.Pro286=)
c.690C= (p.Pro230=)
c.441C= (p.Pro147=)
19g.53810801G>TCA508854222NLRP12c.858C>A (p.Pro286=)
c.690C>A (p.Pro230=)
c.441C>A (p.Pro147=)
19g.53810802G>ACA9639593NLRP12c.857C>T (p.Pro286Leu)
c.689C>T (p.Pro230Leu)
c.440C>T (p.Pro147Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.53810802G>CCA407415650NLRP12c.857C>G (p.Pro286Arg)
c.689C>G (p.Pro230Arg)
c.440C>G (p.Pro147Arg)
19g.53810802G=CA2342536896NLRP12c.857C= (p.Pro286=)
c.689C= (p.Pro230=)
c.440C= (p.Pro147=)
19g.53810802G>TCA407415651NLRP12c.857C>A (p.Pro286His)
c.689C>A (p.Pro230His)
c.440C>A (p.Pro147His)
19g.53810803G>ACA9639594NLRP12c.856C>T (p.Pro286Ser)
c.688C>T (p.Pro230Ser)
c.439C>T (p.Pro147Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.53810803G>CCA407415652NLRP12c.856C>G (p.Pro286Ala)
c.688C>G (p.Pro230Ala)
c.439C>G (p.Pro147Ala)
19g.53810803G=CA2342536897NLRP12c.856C= (p.Pro286=)
c.688C= (p.Pro230=)
c.439C= (p.Pro147=)
19g.53810803G>TCA407415653NLRP12c.856C>A (p.Pro286Thr)
c.688C>A (p.Pro230Thr)
c.439C>A (p.Pro147Thr)
19g.53810804A>CCA508854228NLRP12c.855T>G (p.Val285=)
c.687T>G (p.Val229=)
c.438T>G (p.Val146=)
19g.53810804A>GCA508854230NLRP12c.855T>C (p.Val285=)
c.687T>C (p.Val229=)
c.438T>C (p.Val146=)
19g.53810804A>TCA508854231NLRP12c.855T>A (p.Val285=)
c.687T>A (p.Val229=)
c.438T>A (p.Val146=)
 gnomAD v4
19g.53810805A=CA2342536898NLRP12c.854T= (p.Val285=)
c.686T= (p.Val229=)
c.437T= (p.Val146=)
19g.53810805A>CCA407415655NLRP12c.854T>G (p.Val285Gly)
c.686T>G (p.Val229Gly)
c.437T>G (p.Val146Gly)
19g.53810805A>GCA310070968NLRP12c.854T>C (p.Val285Ala)
c.686T>C (p.Val229Ala)
c.437T>C (p.Val146Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.53810805A>TCA407415654NLRP12c.854T>A (p.Val285Asp)
c.686T>A (p.Val229Asp)
c.437T>A (p.Val146Asp)
 gnomAD v4
19g.53810806C>ACA407415656NLRP12c.853G>T (p.Val285Phe)
c.685G>T (p.Val229Phe)
c.436G>T (p.Val146Phe)
19g.53810806C>GCA407415657NLRP12c.853G>C (p.Val285Leu)
c.685G>C (p.Val229Leu)
c.436G>C (p.Val146Leu)
 gnomAD v4
19g.53810806C>TCA407415658NLRP12c.853G>A (p.Val285Ile)
c.685G>A (p.Val229Ile)
c.436G>A (p.Val146Ile)
19g.53810807T>ACA508854232NLRP12c.852A>T (p.Arg284=)
c.684A>T (p.Arg228=)
c.435A>T (p.Arg145=)
19g.53810807T>CCA508854233NLRP12c.852A>G (p.Arg284=)
c.684A>G (p.Arg228=)
c.435A>G (p.Arg145=)
19g.53810807T>GCA508854234NLRP12c.852A>C (p.Arg284=)
c.684A>C (p.Arg228=)
c.435A>C (p.Arg145=)
 dbSNP gnomAD v3 gnomAD v4
19g.53810807T=CA2342536899NLRP12c.852A= (p.Arg284=)
c.684A= (p.Arg228=)
c.435A= (p.Arg145=)
19g.53810808C>ACA407415659NLRP12c.851G>T (p.Arg284Leu)
c.683G>T (p.Arg228Leu)
c.434G>T (p.Arg145Leu)
 gnomAD v4
19g.53810808C=CA2342536900NLRP12c.851G= (p.Arg284=)
c.683G= (p.Arg228=)
c.434G= (p.Arg145=)
19g.53810808C>GCA407415660NLRP12c.851G>C (p.Arg284Pro)
c.683G>C (p.Arg228Pro)
c.434G>C (p.Arg145Pro)
19g.53810808C>TCA9639595NLRP12c.851G>A (p.Arg284Gln)
c.683G>A (p.Arg228Gln)
c.434G>A (p.Arg145Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.53810809G>ACA115098NLRP12c.850C>T (p.Arg284Ter)
c.682C>T (p.Arg228Ter)
c.433C>T (p.Arg145Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.53810809G>CCA407415661NLRP12c.850C>G (p.Arg284Gly)
c.682C>G (p.Arg228Gly)
c.433C>G (p.Arg145Gly)
 gnomAD v4
19g.53810809G=CA2342536901NLRP12c.850C= (p.Arg284=)
c.682C= (p.Arg228=)
c.433C= (p.Arg145=)
19g.53810809G>TCA508854237NLRP12c.850C>A (p.Arg284=)
c.682C>A (p.Arg228=)
c.433C>A (p.Arg145=)
19g.53810810_53810813delCA2586956544NLRP12c.847_850del (p.Ile283GlufsTer?)
c.679_682del (p.Ile227GlufsTer?)
c.430_433del (p.Ile144GlufsTer?)
 gnomAD v4
19g.53810810G>ACA508854239NLRP12c.849C>T (p.Ile283=)
c.681C>T (p.Ile227=)
c.432C>T (p.Ile144=)
 COSMIC COSMIC
19g.53810810G>CCA407415662NLRP12c.849C>G (p.Ile283Met)
c.681C>G (p.Ile227Met)
c.432C>G (p.Ile144Met)
19g.53810810G>TCA508854240NLRP12c.849C>A (p.Ile283=)
c.681C>A (p.Ile227=)
c.432C>A (p.Ile144=)
19g.53810811A>CCA407415663NLRP12c.848T>G (p.Ile283Ser)
c.680T>G (p.Ile227Ser)
c.431T>G (p.Ile144Ser)
19g.53810811A>GCA407415664NLRP12c.848T>C (p.Ile283Thr)
c.680T>C (p.Ile227Thr)
c.431T>C (p.Ile144Thr)
19g.53810811A>TCA407415665NLRP12c.848T>A (p.Ile283Asn)
c.680T>A (p.Ile227Asn)
c.431T>A (p.Ile144Asn)
 gnomAD v4
19g.53810812T>ACA407415668NLRP12c.847A>T (p.Ile283Phe)
c.679A>T (p.Ile227Phe)
c.430A>T (p.Ile144Phe)
19g.53810812T>CCA407415666NLRP12c.847A>G (p.Ile283Val)
c.679A>G (p.Ile227Val)
c.430A>G (p.Ile144Val)
19g.53810812T>GCA407415667NLRP12c.847A>C (p.Ile283Leu)
c.679A>C (p.Ile227Leu)
c.430A>C (p.Ile144Leu)
 gnomAD v3 gnomAD v4

Number of alleles fetched