Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.22992736C>GCA2641247328RBBP8c.921-12C>G (n.921-12C>G)
c.99-12C>G (n.99-12C>G)
c.627-12C>G (n.627-12C>G)
 gnomAD v4
18g.22992738_22992741delCA2641247329RBBP8c.921-10_921-7del (n.921-10_921-7del)
c.99-10_99-7del (n.99-10_99-7del)
c.627-10_627-7del (n.627-10_627-7del)
 gnomAD v4
18g.22992738C>GCA2566593406RBBP8c.921-10C>G (n.921-10C>G)
c.99-10C>G (n.99-10C>G)
c.627-10C>G (n.627-10C>G)
18g.22992741delCA2641247330RBBP8c.921-7del (n.921-7del)
c.99-7del (n.99-7del)
c.627-7del (n.627-7del)
 gnomAD v4
18g.22992743_22992746delCA2641247331RBBP8c.921-5_921-2del (n.921-5_921-2del)
c.99-5_99-2del (n.99-5_99-2del)
c.627-5_627-2del (n.627-5_627-2del)
 gnomAD v4
18g.22992740T>CCA8909987RBBP8c.921-8T>C (n.921-8T>C)
c.99-8T>C (n.99-8T>C)
c.627-8T>C (n.627-8T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.22992740T=CA2289916318RBBP8c.921-8T= (n.921-8T=)
c.99-8T= (n.99-8T=)
c.627-8T= (n.627-8T=)
18g.22992741T>CCA2811798421RBBP8c.921-7T>C (n.921-7T>C)
c.99-7T>C (n.99-7T>C)
c.627-7T>C (n.627-7T>C)
18g.22992742A>GCA2641247332RBBP8c.921-6A>G (n.921-6A>G)
c.99-6A>G (n.99-6A>G)
c.627-6A>G (n.627-6A>G)
 gnomAD v4
18g.22992746A>CCA401775900RBBP8c.921-2A>C (n.921-2A>C)
c.99-2A>C (n.99-2A>C)
c.627-2A>C (n.627-2A>C)
18g.22992746A>GCA401775901RBBP8c.921-2A>G (n.921-2A>G)
c.99-2A>G (n.99-2A>G)
c.627-2A>G (n.627-2A>G)
18g.22992746A>TCA401775902RBBP8c.921-2A>T (n.921-2A>T)
c.99-2A>T (n.99-2A>T)
c.627-2A>T (n.627-2A>T)
18g.22992747G>ACA401775903RBBP8c.921-1G>A (n.921-1G>A)
c.99-1G>A (n.99-1G>A)
c.627-1G>A (n.627-1G>A)
 gnomAD v4
18g.22992747G>CCA401775904RBBP8c.921-1G>C (n.921-1G>C)
c.99-1G>C (n.99-1G>C)
c.627-1G>C (n.627-1G>C)
18g.22992747G>TCA401775905RBBP8c.921-1G>T (n.921-1G>T)
c.99-1G>T (n.99-1G>T)
c.627-1G>T (n.627-1G>T)
18g.22992748A>CCA401775906RBBP8c.921A>C (p.Arg307Ser)
c.99A>C (p.Arg33Ser)
c.627A>C (p.Arg209Ser)
18g.22992748A>GCA503520928RBBP8c.921A>G (p.Arg307=)
c.99A>G (p.Arg33=)
c.627A>G (p.Arg209=)
18g.22992748A>TCA401775907RBBP8c.921A>T (p.Arg307Ser)
c.99A>T (p.Arg33Ser)
c.627A>T (p.Arg209Ser)
18g.22992749T>ACA401775908RBBP8c.922T>A (p.Phe308Ile)
c.100T>A (p.Phe34Ile)
c.628T>A (p.Phe210Ile)
18g.22992749T>CCA401775910RBBP8c.922T>C (p.Phe308Leu)
c.100T>C (p.Phe34Leu)
c.628T>C (p.Phe210Leu)
 dbSNP gnomAD v2 gnomAD v4
18g.22992749T>GCA401775909RBBP8c.922T>G (p.Phe308Val)
c.100T>G (p.Phe34Val)
c.628T>G (p.Phe210Val)
18g.22992749T=CA2289916319RBBP8c.922T= (p.Phe308=)
c.100T= (p.Phe34=)
c.628T= (p.Phe210=)
18g.22992749_22992758dupCA2641247333RBBP8c.922_931dup (p.Ser311PhefsTer28)
c.100_109dup (p.Ser37PhefsTer28)
c.628_637dup (p.Ser213PhefsTer28)
 gnomAD v4
18g.22992750T>ACA401775911RBBP8c.923T>A (p.Phe308Tyr)
c.101T>A (p.Phe34Tyr)
c.629T>A (p.Phe210Tyr)
18g.22992750T>CCA401775913RBBP8c.923T>C (p.Phe308Ser)
c.101T>C (p.Phe34Ser)
c.629T>C (p.Phe210Ser)
18g.22992750T>GCA401775912RBBP8c.923T>G (p.Phe308Cys)
c.101T>G (p.Phe34Cys)
c.629T>G (p.Phe210Cys)
18g.22992751T>ACA401775914RBBP8c.924T>A (p.Phe308Leu)
c.102T>A (p.Phe34Leu)
c.630T>A (p.Phe210Leu)
18g.22992751T>CCA503520930RBBP8c.924T>C (p.Phe308=)
c.102T>C (p.Phe34=)
c.630T>C (p.Phe210=)
18g.22992751T>GCA401775915RBBP8c.924T>G (p.Phe308Leu)
c.102T>G (p.Phe34Leu)
c.630T>G (p.Phe210Leu)
18g.22992752T>ACA401775916RBBP8c.925T>A (p.Ser309Thr)
c.103T>A (p.Ser35Thr)
c.631T>A (p.Ser211Thr)
18g.22992752T>CCA401775917RBBP8c.925T>C (p.Ser309Pro)
c.103T>C (p.Ser35Pro)
c.631T>C (p.Ser211Pro)
18g.22992752T>GCA401775918RBBP8c.925T>G (p.Ser309Ala)
c.103T>G (p.Ser35Ala)
c.631T>G (p.Ser211Ala)
18g.22992753delCA2576468486RBBP8c.926del (p.Ser309Ter)
c.104del (p.Ser35Ter)
c.632del (p.Ser211Ter)
18g.22992753C>ACA401775919RBBP8c.926C>A (p.Ser309Ter)
c.104C>A (p.Ser35Ter)
c.632C>A (p.Ser211Ter)
18g.22992753C>GCA401775920RBBP8c.926C>G (p.Ser309Ter)
c.104C>G (p.Ser35Ter)
c.632C>G (p.Ser211Ter)
18g.22992753C>TCA401775921RBBP8c.926C>T (p.Ser309Leu)
c.104C>T (p.Ser35Leu)
c.632C>T (p.Ser211Leu)
18g.22992754A=CA2289916321RBBP8c.927A= (p.Ser309=)
c.105A= (p.Ser35=)
c.633A= (p.Ser211=)
18g.22992754A>CCA503520932RBBP8c.927A>C (p.Ser309=)
c.105A>C (p.Ser35=)
c.633A>C (p.Ser211=)
18g.22992754A>GCA8909988RBBP8c.927A>G (p.Ser309=)
c.105A>G (p.Ser35=)
c.633A>G (p.Ser211=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.22992754A>TCA503520933RBBP8c.927A>T (p.Ser309=)
c.105A>T (p.Ser35=)
c.633A>T (p.Ser211=)
18g.22992755G>ACA401775922RBBP8c.928G>A (p.Asp310Asn)
c.106G>A (p.Asp36Asn)
c.634G>A (p.Asp212Asn)
18g.22992755G>CCA401775923RBBP8c.928G>C (p.Asp310His)
c.106G>C (p.Asp36His)
c.634G>C (p.Asp212His)
18g.22992755G>TCA401775924RBBP8c.928G>T (p.Asp310Tyr)
c.106G>T (p.Asp36Tyr)
c.634G>T (p.Asp212Tyr)
18g.22992756A>CCA401775927RBBP8c.929A>C (p.Asp310Ala)
c.107A>C (p.Asp36Ala)
c.635A>C (p.Asp212Ala)
18g.22992756A>GCA401775926RBBP8c.929A>G (p.Asp310Gly)
c.107A>G (p.Asp36Gly)
c.635A>G (p.Asp212Gly)
 gnomAD v4
18g.22992756A>TCA401775925RBBP8c.929A>T (p.Asp310Val)
c.107A>T (p.Asp36Val)
c.635A>T (p.Asp212Val)
18g.22992757T>ACA401775928RBBP8c.930T>A (p.Asp310Glu)
c.108T>A (p.Asp36Glu)
c.636T>A (p.Asp212Glu)
18g.22992757T>CCA503520935RBBP8c.930T>C (p.Asp310=)
c.108T>C (p.Asp36=)
c.636T>C (p.Asp212=)
 gnomAD v4
18g.22992757T>GCA297050626RBBP8c.930T>G (p.Asp310Glu)
c.108T>G (p.Asp36Glu)
c.636T>G (p.Asp212Glu)
 dbSNP gnomAD v2
18g.22992757T=CA2289916325RBBP8c.930T= (p.Asp310=)
c.108T= (p.Asp36=)
c.636T= (p.Asp212=)
18g.22992758T>ACA401775929RBBP8c.931T>A (p.Ser311Thr)
c.109T>A (p.Ser37Thr)
c.637T>A (p.Ser213Thr)
18g.22992758T>CCA401775930RBBP8c.931T>C (p.Ser311Pro)
c.109T>C (p.Ser37Pro)
c.637T>C (p.Ser213Pro)
18g.22992758T>GCA401775931RBBP8c.931T>G (p.Ser311Ala)
c.109T>G (p.Ser37Ala)
c.637T>G (p.Ser213Ala)
18g.22992759C>ACA401775932RBBP8c.932C>A (p.Ser311Tyr)
c.110C>A (p.Ser37Tyr)
c.638C>A (p.Ser213Tyr)
 gnomAD v4
18g.22992759C>GCA401775933RBBP8c.932C>G (p.Ser311Cys)
c.110C>G (p.Ser37Cys)
c.638C>G (p.Ser213Cys)
18g.22992759C>TCA401775934RBBP8c.932C>T (p.Ser311Phe)
c.110C>T (p.Ser37Phe)
c.638C>T (p.Ser213Phe)
18g.22992760T>ACA503520937RBBP8c.933T>A (p.Ser311=)
c.111T>A (p.Ser37=)
c.639T>A (p.Ser213=)
18g.22992760T>CCA503520938RBBP8c.933T>C (p.Ser311=)
c.111T>C (p.Ser37=)
c.639T>C (p.Ser213=)
18g.22992760T>GCA503520939RBBP8c.933T>G (p.Ser311=)
c.111T>G (p.Ser37=)
c.639T>G (p.Ser213=)
18g.22992761A=CA2289916326RBBP8c.934A= (p.Thr312=)
c.112A= (p.Thr38=)
c.640A= (p.Thr214=)
18g.22992761A>CCA401775935RBBP8c.934A>C (p.Thr312Pro)
c.112A>C (p.Thr38Pro)
c.640A>C (p.Thr214Pro)
18g.22992761A>GCA8909989RBBP8c.934A>G (p.Thr312Ala)
c.112A>G (p.Thr38Ala)
c.640A>G (p.Thr214Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.22992761A>TCA401775936RBBP8c.934A>T (p.Thr312Ser)
c.112A>T (p.Thr38Ser)
c.640A>T (p.Thr214Ser)
18g.22992762C>ACA401775938RBBP8c.935C>A (p.Thr312Asn)
c.113C>A (p.Thr38Asn)
c.641C>A (p.Thr214Asn)
18g.22992762C=CA2289916328RBBP8c.935C= (p.Thr312=)
c.113C= (p.Thr38=)
c.641C= (p.Thr214=)
18g.22992762C>GCA401775939RBBP8c.935C>G (p.Thr312Ser)
c.113C>G (p.Thr38Ser)
c.641C>G (p.Thr214Ser)
18g.22992762C>TCA401775937RBBP8c.935C>T (p.Thr312Ile)
c.113C>T (p.Thr38Ile)
c.641C>T (p.Thr214Ile)
 dbSNP gnomAD v3 gnomAD v4
18g.22992763T>ACA503520943RBBP8c.936T>A (p.Thr312=)
c.114T>A (p.Thr38=)
c.642T>A (p.Thr214=)
18g.22992763T>CCA503520944RBBP8c.936T>C (p.Thr312=)
c.114T>C (p.Thr38=)
c.642T>C (p.Thr214=)
 gnomAD v4
18g.22992763T>GCA503520945RBBP8c.936T>G (p.Thr312=)
c.114T>G (p.Thr38=)
c.642T>G (p.Thr214=)
18g.22992764T>ACA401775940RBBP8c.937T>A (p.Ser313Thr)
c.115T>A (p.Ser39Thr)
c.643T>A (p.Ser215Thr)
18g.22992764T>CCA401775941RBBP8c.937T>C (p.Ser313Pro)
c.115T>C (p.Ser39Pro)
c.643T>C (p.Ser215Pro)
18g.22992764T>GCA401775942RBBP8c.937T>G (p.Ser313Ala)
c.115T>G (p.Ser39Ala)
c.643T>G (p.Ser215Ala)
18g.22992765C>ACA401775943RBBP8c.938C>A (p.Ser313Ter)
c.116C>A (p.Ser39Ter)
c.644C>A (p.Ser215Ter)
18g.22992765C>GCA401775944RBBP8c.938C>G (p.Ser313Ter)
c.116C>G (p.Ser39Ter)
c.644C>G (p.Ser215Ter)
18g.22992765C>TCA401775945RBBP8c.938C>T (p.Ser313Leu)
c.116C>T (p.Ser39Leu)
c.644C>T (p.Ser215Leu)
18g.22992766A>CCA503520947RBBP8c.939A>C (p.Ser313=)
c.117A>C (p.Ser39=)
c.645A>C (p.Ser215=)
18g.22992766A>GCA503520948RBBP8c.939A>G (p.Ser313=)
c.117A>G (p.Ser39=)
c.645A>G (p.Ser215=)
18g.22992766A>TCA503520950RBBP8c.939A>T (p.Ser313=)
c.117A>T (p.Ser39=)
c.645A>T (p.Ser215=)
18g.22992767A>CCA401775946RBBP8c.940A>C (p.Lys314Gln)
c.118A>C (p.Lys40Gln)
c.646A>C (p.Lys216Gln)
18g.22992767A>GCA401775947RBBP8c.940A>G (p.Lys314Glu)
c.118A>G (p.Lys40Glu)
c.646A>G (p.Lys216Glu)
18g.22992767A>TCA401775948RBBP8c.940A>T (p.Lys314Ter)
c.118A>T (p.Lys40Ter)
c.646A>T (p.Lys216Ter)
18g.22992768A>CCA401775949RBBP8c.941A>C (p.Lys314Thr)
c.119A>C (p.Lys40Thr)
c.647A>C (p.Lys216Thr)
18g.22992768A>GCA401775950RBBP8c.941A>G (p.Lys314Arg)
c.119A>G (p.Lys40Arg)
c.647A>G (p.Lys216Arg)
18g.22992768A>TCA401775951RBBP8c.941A>T (p.Lys314Met)
c.119A>T (p.Lys40Met)
c.647A>T (p.Lys216Met)
18g.22992769G>ACA503520951RBBP8c.942G>A (p.Lys314=)
c.120G>A (p.Lys40=)
c.648G>A (p.Lys216=)
18g.22992769G>CCA401775953RBBP8c.942G>C (p.Lys314Asn)
c.120G>C (p.Lys40Asn)
c.648G>C (p.Lys216Asn)
18g.22992769G>TCA401775952RBBP8c.942G>T (p.Lys314Asn)
c.120G>T (p.Lys40Asn)
c.648G>T (p.Lys216Asn)
18g.22992770A=CA2289916330RBBP8c.943A= (p.Thr315=)
c.121A= (p.Thr41=)
c.649A= (p.Thr217=)
18g.22992770A>CCA401775954RBBP8c.943A>C (p.Thr315Pro)
c.121A>C (p.Thr41Pro)
c.649A>C (p.Thr217Pro)
 dbSNP gnomAD v2 gnomAD v4
18g.22992770A>GCA401775955RBBP8c.943A>G (p.Thr315Ala)
c.121A>G (p.Thr41Ala)
c.649A>G (p.Thr217Ala)
18g.22992770A>TCA401775956RBBP8c.943A>T (p.Thr315Ser)
c.121A>T (p.Thr41Ser)
c.649A>T (p.Thr217Ser)
 gnomAD v4
18g.22992771C>ACA401775957RBBP8c.944C>A (p.Thr315Asn)
c.122C>A (p.Thr41Asn)
c.650C>A (p.Thr217Asn)
 gnomAD v4
18g.22992771C>GCA401775958RBBP8c.944C>G (p.Thr315Ser)
c.122C>G (p.Thr41Ser)
c.650C>G (p.Thr217Ser)
 gnomAD v4
18g.22992771C>TCA401775959RBBP8c.944C>T (p.Thr315Ile)
c.122C>T (p.Thr41Ile)
c.650C>T (p.Thr217Ile)
 gnomAD v4
18g.22992777_22992779delCA2573320406RBBP8c.950_952del (p.Pro317del)
c.128_130del (p.Pro43del)
c.656_658del (p.Pro219del)
 gnomAD v4
18g.22992772T>ACA503520954RBBP8c.945T>A (p.Thr315=)
c.123T>A (p.Thr41=)
c.651T>A (p.Thr217=)
18g.22992772T>CCA8909990RBBP8c.945T>C (p.Thr315=)
c.123T>C (p.Thr41=)
c.651T>C (p.Thr217=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.22992772T>GCA503520953RBBP8c.945T>G (p.Thr315=)
c.123T>G (p.Thr41=)
c.651T>G (p.Thr217=)
18g.22992772T=CA2289916332RBBP8c.945T= (p.Thr315=)
c.123T= (p.Thr41=)
c.651T= (p.Thr217=)
18g.22992773C>ACA401775960RBBP8c.946C>A (p.Pro316Thr)
c.124C>A (p.Pro42Thr)
c.652C>A (p.Pro218Thr)
18g.22992773C=CA2289916335RBBP8c.946C= (p.Pro316=)
c.124C= (p.Pro42=)
c.652C= (p.Pro218=)
18g.22992773C>GCA401775961RBBP8c.946C>G (p.Pro316Ala)
c.124C>G (p.Pro42Ala)
c.652C>G (p.Pro218Ala)
 gnomAD v4
18g.22992773C>TCA205924RBBP8c.946C>T (p.Pro316Ser)
c.124C>T (p.Pro42Ser)
c.652C>T (p.Pro218Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.22992774C>ACA401775962RBBP8c.947C>A (p.Pro316His)
c.125C>A (p.Pro42His)
c.653C>A (p.Pro218His)
18g.22992774C=CA2289916338RBBP8c.947C= (p.Pro316=)
c.125C= (p.Pro42=)
c.653C= (p.Pro218=)
18g.22992774C>GCA401775963RBBP8c.947C>G (p.Pro316Arg)
c.125C>G (p.Pro42Arg)
c.653C>G (p.Pro218Arg)
18g.22992774C>TCA401775964RBBP8c.947C>T (p.Pro316Leu)
c.125C>T (p.Pro42Leu)
c.653C>T (p.Pro218Leu)
 dbSNP
18g.22992775T>ACA503520956RBBP8c.948T>A (p.Pro316=)
c.126T>A (p.Pro42=)
c.654T>A (p.Pro218=)
18g.22992775T>CCA503520958RBBP8c.948T>C (p.Pro316=)
c.126T>C (p.Pro42=)
c.654T>C (p.Pro218=)
18g.22992775T>GCA503520959RBBP8c.948T>G (p.Pro316=)
c.126T>G (p.Pro42=)
c.654T>G (p.Pro218=)
18g.22992776C>ACA401775966RBBP8c.949C>A (p.Pro317Thr)
c.127C>A (p.Pro43Thr)
c.655C>A (p.Pro219Thr)
18g.22992776C>GCA401775967RBBP8c.949C>G (p.Pro317Ala)
c.127C>G (p.Pro43Ala)
c.655C>G (p.Pro219Ala)
18g.22992776C>TCA401775965RBBP8c.949C>T (p.Pro317Ser)
c.127C>T (p.Pro43Ser)
c.655C>T (p.Pro219Ser)
 gnomAD v4
18g.22992777C>ACA401775970RBBP8c.950C>A (p.Pro317His)
c.128C>A (p.Pro43His)
c.656C>A (p.Pro219His)
 gnomAD v4
18g.22992777C>GCA401775968RBBP8c.950C>G (p.Pro317Arg)
c.128C>G (p.Pro43Arg)
c.656C>G (p.Pro219Arg)
18g.22992777C>TCA401775969RBBP8c.950C>T (p.Pro317Leu)
c.128C>T (p.Pro43Leu)
c.656C>T (p.Pro219Leu)
18g.22992778T>ACA503520964RBBP8c.951T>A (p.Pro317=)
c.129T>A (p.Pro43=)
c.657T>A (p.Pro219=)
18g.22992778T>CCA503520963RBBP8c.951T>C (p.Pro317=)
c.129T>C (p.Pro43=)
c.657T>C (p.Pro219=)
 gnomAD v4
18g.22992778T>GCA503520961RBBP8c.951T>G (p.Pro317=)
c.129T>G (p.Pro43=)
c.657T>G (p.Pro219=)
18g.22992779C>ACA401775971RBBP8c.952C>A (p.Gln318Lys)
c.130C>A (p.Gln44Lys)
c.658C>A (p.Gln220Lys)
18g.22992779C=CA2289916339RBBP8c.952C= (p.Gln318=)
c.130C= (p.Gln44=)
c.658C= (p.Gln220=)
18g.22992779C>GCA401775972RBBP8c.952C>G (p.Gln318Glu)
c.130C>G (p.Gln44Glu)
c.658C>G (p.Gln220Glu)
 dbSNP gnomAD v2 gnomAD v4
18g.22992779C>TCA401775973RBBP8c.952C>T (p.Gln318Ter)
c.130C>T (p.Gln44Ter)
c.658C>T (p.Gln220Ter)
18g.22992779_22992782delinsCAAGCA2289916340RBBP8c.952_955delinsCAAG (p.Gln318=)
c.130_133delinsCAAG (p.Gln44=)
c.658_661delinsCAAG (p.Gln220=)
18g.22992780A>CCA401775974RBBP8c.953A>C (p.Gln318Pro)
c.131A>C (p.Gln44Pro)
c.659A>C (p.Gln220Pro)
18g.22992780A>GCA401775975RBBP8c.953A>G (p.Gln318Arg)
c.131A>G (p.Gln44Arg)
c.659A>G (p.Gln220Arg)
18g.22992780A>TCA401775976RBBP8c.953A>T (p.Gln318Leu)
c.131A>T (p.Gln44Leu)
c.659A>T (p.Gln220Leu)
18g.22992785_22992787delCA2289916351RBBP8c.958_960del (p.Glu320del)
c.136_138del (p.Glu46del)
c.664_666del (p.Glu222del)
 dbSNP gnomAD v4
18g.22992781A=CA2289916353RBBP8c.954A= (p.Gln318=)
c.132A= (p.Gln44=)
c.660A= (p.Gln220=)
18g.22992781A>CCA401775977RBBP8c.954A>C (p.Gln318His)
c.132A>C (p.Gln44His)
c.660A>C (p.Gln220His)
18g.22992781A>GCA503520965RBBP8c.954A>G (p.Gln318=)
c.132A>G (p.Gln44=)
c.660A>G (p.Gln220=)
18g.22992781A>TCA401775978RBBP8c.954A>T (p.Gln318His)
c.132A>T (p.Gln44His)
c.660A>T (p.Gln220His)
18g.22992782G>ACA401775979RBBP8c.955G>A (p.Glu319Lys)
c.133G>A (p.Glu45Lys)
c.661G>A (p.Glu221Lys)
18g.22992782G>CCA401775980RBBP8c.955G>C (p.Glu319Gln)
c.133G>C (p.Glu45Gln)
c.661G>C (p.Glu221Gln)
18g.22992782G>TCA401775981RBBP8c.955G>T (p.Glu319Ter)
c.133G>T (p.Glu45Ter)
c.661G>T (p.Glu221Ter)
 gnomAD v4
18g.22992782dupCA777679090RBBP8c.955dup (p.Glu319GlyfsTer17)
c.133dup (p.Glu45GlyfsTer17)
c.661dup (p.Glu221GlyfsTer17)
 dbSNP
18g.22992783A>CCA401775984RBBP8c.956A>C (p.Glu319Ala)
c.134A>C (p.Glu45Ala)
c.662A>C (p.Glu221Ala)
18g.22992783A>GCA401775982RBBP8c.956A>G (p.Glu319Gly)
c.134A>G (p.Glu45Gly)
c.662A>G (p.Glu221Gly)
18g.22992783A>TCA401775983RBBP8c.956A>T (p.Glu319Val)
c.134A>T (p.Glu45Val)
c.662A>T (p.Glu221Val)
18g.22992784A>CCA401775985RBBP8c.957A>C (p.Glu319Asp)
c.135A>C (p.Glu45Asp)
c.663A>C (p.Glu221Asp)
18g.22992784A>GCA503520967RBBP8c.957A>G (p.Glu319=)
c.135A>G (p.Glu45=)
c.663A>G (p.Glu221=)
18g.22992784A>TCA401775986RBBP8c.957A>T (p.Glu319Asp)
c.135A>T (p.Glu45Asp)
c.663A>T (p.Glu221Asp)
18g.22992785G>ACA401775987RBBP8c.958G>A (p.Glu320Lys)
c.136G>A (p.Glu46Lys)
c.664G>A (p.Glu222Lys)
 COSMIC
18g.22992785G>CCA401775988RBBP8c.958G>C (p.Glu320Gln)
c.136G>C (p.Glu46Gln)
c.664G>C (p.Glu222Gln)
18g.22992785G>TCA401775989RBBP8c.958G>T (p.Glu320Ter)
c.136G>T (p.Glu46Ter)
c.664G>T (p.Glu222Ter)
18g.22992786A=CA2289916356RBBP8c.959A= (p.Glu320=)
c.137A= (p.Glu46=)
c.665A= (p.Glu222=)
18g.22992786A>CCA401775990RBBP8c.959A>C (p.Glu320Ala)
c.137A>C (p.Glu46Ala)
c.665A>C (p.Glu222Ala)
18g.22992786A>GCA401775991RBBP8c.959A>G (p.Glu320Gly)
c.137A>G (p.Glu46Gly)
c.665A>G (p.Glu222Gly)
18g.22992786A>TCA401775992RBBP8c.959A>T (p.Glu320Val)
c.137A>T (p.Glu46Val)
c.665A>T (p.Glu222Val)
18g.22992787A>CCA401775993RBBP8c.960A>C (p.Glu320Asp)
c.138A>C (p.Glu46Asp)
c.666A>C (p.Glu222Asp)
18g.22992787A>GCA503520968RBBP8c.960A>G (p.Glu320=)
c.138A>G (p.Glu46=)
c.666A>G (p.Glu222=)
18g.22992787A>TCA401775994RBBP8c.960A>T (p.Glu320Asp)
c.138A>T (p.Glu46Asp)
c.666A>T (p.Glu222Asp)
18g.22992790_22992816dupCA2289916357RBBP8c.963_989dup (p.Val329_Phe330insLeuProThrArgValSerSerProVal)
c.141_167dup (p.Val55_Phe56insLeuProThrArgValSerSerProVal)
c.669_695dup (p.Val231_Phe232insLeuProThrArgValSerSerProVal)
 dbSNP gnomAD v3 gnomAD v4
18g.22992788T>ACA401775995RBBP8c.961T>A (p.Leu321Ile)
c.139T>A (p.Leu47Ile)
c.667T>A (p.Leu223Ile)
18g.22992788T>CCA503520969RBBP8c.961T>C (p.Leu321=)
c.139T>C (p.Leu47=)
c.667T>C (p.Leu223=)
18g.22992788T>GCA401775996RBBP8c.961T>G (p.Leu321Val)
c.139T>G (p.Leu47Val)
c.667T>G (p.Leu223Val)
18g.22992789T>ACA401775999RBBP8c.962T>A (p.Leu321Ter)
c.140T>A (p.Leu47Ter)
c.668T>A (p.Leu223Ter)
18g.22992789T>CCA401775998RBBP8c.962T>C (p.Leu321Ser)
c.140T>C (p.Leu47Ser)
c.668T>C (p.Leu223Ser)
18g.22992789T>GCA401775997RBBP8c.962T>G (p.Leu321Ter)
c.140T>G (p.Leu47Ter)
c.668T>G (p.Leu223Ter)
18g.22992790A=CA2289916359RBBP8c.963A= (p.Leu321=)
c.141A= (p.Leu47=)
c.669A= (p.Leu223=)
18g.22992790A>CCA401776000RBBP8c.963A>C (p.Leu321Phe)
c.141A>C (p.Leu47Phe)
c.669A>C (p.Leu223Phe)
18g.22992790A>GCA503520973RBBP8c.963A>G (p.Leu321=)
c.141A>G (p.Leu47=)
c.669A>G (p.Leu223=)
 dbSNP gnomAD v3 gnomAD v4
18g.22992790A>TCA401776001RBBP8c.963A>T (p.Leu321Phe)
c.141A>T (p.Leu47Phe)
c.669A>T (p.Leu223Phe)
18g.22992791C>ACA401776002RBBP8c.964C>A (p.Pro322Thr)
c.142C>A (p.Pro48Thr)
c.670C>A (p.Pro224Thr)
18g.22992791C=CA2289916361RBBP8c.964C= (p.Pro322=)
c.142C= (p.Pro48=)
c.670C= (p.Pro224=)
18g.22992791C>GCA401776003RBBP8c.964C>G (p.Pro322Ala)
c.142C>G (p.Pro48Ala)
c.670C>G (p.Pro224Ala)
 dbSNP
18g.22992791C>TCA401776004RBBP8c.964C>T (p.Pro322Ser)
c.142C>T (p.Pro48Ser)
c.670C>T (p.Pro224Ser)
 dbSNP
18g.22992792C>ACA401776005RBBP8c.965C>A (p.Pro322His)
c.143C>A (p.Pro48His)
c.671C>A (p.Pro224His)
 gnomAD v4 COSMIC COSMIC
18g.22992792C=CA2289916364RBBP8c.965C= (p.Pro322=)
c.143C= (p.Pro48=)
c.671C= (p.Pro224=)
18g.22992792C>GCA8909991RBBP8c.965C>G (p.Pro322Arg)
c.143C>G (p.Pro48Arg)
c.671C>G (p.Pro224Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.22992792C>TCA401776006RBBP8c.965C>T (p.Pro322Leu)
c.143C>T (p.Pro48Leu)
c.671C>T (p.Pro224Leu)
 gnomAD v4
18g.22992793T>ACA503520979RBBP8c.966T>A (p.Pro322=)
c.144T>A (p.Pro48=)
c.672T>A (p.Pro224=)
18g.22992793T>CCA503520978RBBP8c.966T>C (p.Pro322=)
c.144T>C (p.Pro48=)
c.672T>C (p.Pro224=)
18g.22992793T>GCA503520977RBBP8c.966T>G (p.Pro322=)
c.144T>G (p.Pro48=)
c.672T>G (p.Pro224=)
18g.22992794A>CCA401776007RBBP8c.967A>C (p.Thr323Pro)
c.145A>C (p.Thr49Pro)
c.673A>C (p.Thr225Pro)
18g.22992794A>GCA401776008RBBP8c.967A>G (p.Thr323Ala)
c.145A>G (p.Thr49Ala)
c.673A>G (p.Thr225Ala)
18g.22992794A>TCA401776009RBBP8c.967A>T (p.Thr323Ser)
c.145A>T (p.Thr49Ser)
c.673A>T (p.Thr225Ser)
18g.22992795C>ACA401776010RBBP8c.968C>A (p.Thr323Asn)
c.146C>A (p.Thr49Asn)
c.674C>A (p.Thr225Asn)
18g.22992795C=CA2289916365RBBP8c.968C= (p.Thr323=)
c.146C= (p.Thr49=)
c.674C= (p.Thr225=)
18g.22992795C>GCA401776011RBBP8c.968C>G (p.Thr323Ser)
c.146C>G (p.Thr49Ser)
c.674C>G (p.Thr225Ser)
 gnomAD v4
18g.22992795C>TCA8909992RBBP8c.968C>T (p.Thr323Ile)
c.146C>T (p.Thr49Ile)
c.674C>T (p.Thr225Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.22992796T>ACA503520985RBBP8c.969T>A (p.Thr323=)
c.147T>A (p.Thr49=)
c.675T>A (p.Thr225=)
18g.22992796T>CCA503520984RBBP8c.969T>C (p.Thr323=)
c.147T>C (p.Thr49=)
c.675T>C (p.Thr225=)
 gnomAD v4
18g.22992796T>GCA503520983RBBP8c.969T>G (p.Thr323=)
c.147T>G (p.Thr49=)
c.675T>G (p.Thr225=)
18g.22992797C>ACA503520986RBBP8c.970C>A (p.Arg324=)
c.148C>A (p.Arg50=)
c.676C>A (p.Arg226=)
18g.22992797C=CA2289916367RBBP8c.970C= (p.Arg324=)
c.148C= (p.Arg50=)
c.676C= (p.Arg226=)
18g.22992797C>GCA8909993RBBP8c.970C>G (p.Arg324Gly)
c.148C>G (p.Arg50Gly)
c.676C>G (p.Arg226Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.22992797C>TCA8909994RBBP8c.970C>T (p.Arg324Ter)
c.148C>T (p.Arg50Ter)
c.676C>T (p.Arg226Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.22992798G>ACA8909995RBBP8c.971G>A (p.Arg324Gln)
c.149G>A (p.Arg50Gln)
c.677G>A (p.Arg226Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.22992798G>CCA401776012RBBP8c.971G>C (p.Arg324Pro)
c.149G>C (p.Arg50Pro)
c.677G>C (p.Arg226Pro)
18g.22992798G=CA2289916370RBBP8c.971G= (p.Arg324=)
c.149G= (p.Arg50=)
c.677G= (p.Arg226=)
18g.22992798G>TCA401776013RBBP8c.971G>T (p.Arg324Leu)
c.149G>T (p.Arg50Leu)
c.677G>T (p.Arg226Leu)
 gnomAD v4
18g.22992799A>CCA503520988RBBP8c.972A>C (p.Arg324=)
c.150A>C (p.Arg50=)
c.678A>C (p.Arg226=)
18g.22992799A>GCA503520990RBBP8c.972A>G (p.Arg324=)
c.150A>G (p.Arg50=)
c.678A>G (p.Arg226=)
18g.22992799A>TCA503520989RBBP8c.972A>T (p.Arg324=)
c.150A>T (p.Arg50=)
c.678A>T (p.Arg226=)
18g.22992800G>ACA401776014RBBP8c.973G>A (p.Val325Met)
c.151G>A (p.Val51Met)
c.679G>A (p.Val227Met)
 dbSNP
18g.22992800G>CCA401776015RBBP8c.973G>C (p.Val325Leu)
c.151G>C (p.Val51Leu)
c.679G>C (p.Val227Leu)
18g.22992800G=CA2289916371RBBP8c.973G= (p.Val325=)
c.151G= (p.Val51=)
c.679G= (p.Val227=)
18g.22992800G>TCA401776016RBBP8c.973G>T (p.Val325Leu)
c.151G>T (p.Val51Leu)
c.679G>T (p.Val227Leu)
18g.22992801T>ACA401776017RBBP8c.974T>A (p.Val325Glu)
c.152T>A (p.Val51Glu)
c.680T>A (p.Val227Glu)
18g.22992801T>CCA401776018RBBP8c.974T>C (p.Val325Ala)
c.152T>C (p.Val51Ala)
c.680T>C (p.Val227Ala)
18g.22992801T>GCA401776019RBBP8c.974T>G (p.Val325Gly)
c.152T>G (p.Val51Gly)
c.680T>G (p.Val227Gly)
18g.22992802G>ACA503520992RBBP8c.975G>A (p.Val325=)
c.153G>A (p.Val51=)
c.681G>A (p.Val227=)
 gnomAD v4
18g.22992802G>CCA503520993RBBP8c.975G>C (p.Val325=)
c.153G>C (p.Val51=)
c.681G>C (p.Val227=)
18g.22992802G>TCA503520994RBBP8c.975G>T (p.Val325=)
c.153G>T (p.Val51=)
c.681G>T (p.Val227=)
18g.22992803T>ACA401776020RBBP8c.976T>A (p.Ser326Thr)
c.154T>A (p.Ser52Thr)
c.682T>A (p.Ser228Thr)
18g.22992803T>CCA401776021RBBP8c.976T>C (p.Ser326Pro)
c.154T>C (p.Ser52Pro)
c.682T>C (p.Ser228Pro)
18g.22992803T>GCA401776022RBBP8c.976T>G (p.Ser326Ala)
c.154T>G (p.Ser52Ala)
c.682T>G (p.Ser228Ala)
18g.22992804C>ACA401776025RBBP8c.977C>A (p.Ser326Ter)
c.155C>A (p.Ser52Ter)
c.683C>A (p.Ser228Ter)
 gnomAD v4
18g.22992804C>GCA401776024RBBP8c.977C>G (p.Ser326Ter)
c.155C>G (p.Ser52Ter)
c.683C>G (p.Ser228Ter)
18g.22992804C>TCA401776023RBBP8c.977C>T (p.Ser326Leu)
c.155C>T (p.Ser52Leu)
c.683C>T (p.Ser228Leu)
 gnomAD v4
18g.22992805A>CCA503520996RBBP8c.978A>C (p.Ser326=)
c.156A>C (p.Ser52=)
c.684A>C (p.Ser228=)
18g.22992805A>GCA503520997RBBP8c.978A>G (p.Ser326=)
c.156A>G (p.Ser52=)
c.684A>G (p.Ser228=)
18g.22992805A>TCA503520998RBBP8c.978A>T (p.Ser326=)
c.156A>T (p.Ser52=)
c.684A>T (p.Ser228=)
18g.22992806T>ACA401776026RBBP8c.979T>A (p.Ser327Thr)
c.157T>A (p.Ser53Thr)
c.685T>A (p.Ser229Thr)
18g.22992806T>CCA401776028RBBP8c.979T>C (p.Ser327Pro)
c.157T>C (p.Ser53Pro)
c.685T>C (p.Ser229Pro)
18g.22992806T>GCA401776027RBBP8c.979T>G (p.Ser327Ala)
c.157T>G (p.Ser53Ala)
c.685T>G (p.Ser229Ala)
18g.22992806_22992809delinsTCTCCA2289916373RBBP8c.979_982delinsTCTC (p.Ser327=)
c.157_160delinsTCTC (p.Ser53=)
c.685_688delinsTCTC (p.Ser229=)
18g.22992807C>ACA401776029RBBP8c.980C>A (p.Ser327Tyr)
c.158C>A (p.Ser53Tyr)
c.686C>A (p.Ser229Tyr)
18g.22992807C>GCA401776031RBBP8c.980C>G (p.Ser327Cys)
c.158C>G (p.Ser53Cys)
c.686C>G (p.Ser229Cys)
18g.22992807C>TCA401776030RBBP8c.980C>T (p.Ser327Phe)
c.158C>T (p.Ser53Phe)
c.686C>T (p.Ser229Phe)
 gnomAD v4
18g.22992809_22992811delCA2289916375RBBP8c.982_984del (p.Pro328del)
c.160_162del (p.Pro54del)
c.688_690del (p.Pro230del)
 dbSNP gnomAD v4
18g.22992808T>ACA503521000RBBP8c.981T>A (p.Ser327=)
c.159T>A (p.Ser53=)
c.687T>A (p.Ser229=)
 COSMIC COSMIC
18g.22992808T>CCA503521001RBBP8c.981T>C (p.Ser327=)
c.159T>C (p.Ser53=)
c.687T>C (p.Ser229=)
18g.22992808T>GCA503521002RBBP8c.981T>G (p.Ser327=)
c.159T>G (p.Ser53=)
c.687T>G (p.Ser229=)
18g.22992809C>ACA401776032RBBP8c.982C>A (p.Pro328Thr)
c.160C>A (p.Pro54Thr)
c.688C>A (p.Pro230Thr)
18g.22992809C=CA2289916377RBBP8c.982C= (p.Pro328=)
c.160C= (p.Pro54=)
c.688C= (p.Pro230=)
18g.22992809C>GCA401776034RBBP8c.982C>G (p.Pro328Ala)
c.160C>G (p.Pro54Ala)
c.688C>G (p.Pro230Ala)
18g.22992809C>TCA401776033RBBP8c.982C>T (p.Pro328Ser)
c.160C>T (p.Pro54Ser)
c.688C>T (p.Pro230Ser)
 dbSNP gnomAD v3 gnomAD v4
18g.22992810C>ACA401776035RBBP8c.983C>A (p.Pro328His)
c.161C>A (p.Pro54His)
c.689C>A (p.Pro230His)
18g.22992810C>GCA401776036RBBP8c.983C>G (p.Pro328Arg)
c.161C>G (p.Pro54Arg)
c.689C>G (p.Pro230Arg)
18g.22992810C>TCA401776037RBBP8c.983C>T (p.Pro328Leu)
c.161C>T (p.Pro54Leu)
c.689C>T (p.Pro230Leu)
18g.22992811T>ACA503521006RBBP8c.984T>A (p.Pro328=)
c.162T>A (p.Pro54=)
c.690T>A (p.Pro230=)
18g.22992811T>CCA8909996RBBP8c.984T>C (p.Pro328=)
c.162T>C (p.Pro54=)
c.690T>C (p.Pro230=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.22992811T>GCA8909997RBBP8c.984T>G (p.Pro328=)
c.162T>G (p.Pro54=)
c.690T>G (p.Pro230=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.22992811T=CA2289916379RBBP8c.984T= (p.Pro328=)
c.162T= (p.Pro54=)
c.690T= (p.Pro230=)
18g.22992812G>ACA8909998RBBP8c.985G>A (p.Val329Ile)
c.163G>A (p.Val55Ile)
c.691G>A (p.Val231Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.22992812G>CCA401776038RBBP8c.985G>C (p.Val329Leu)
c.163G>C (p.Val55Leu)
c.691G>C (p.Val231Leu)
18g.22992812G=CA2289916382RBBP8c.985G= (p.Val329=)
c.163G= (p.Val55=)
c.691G= (p.Val231=)
18g.22992812G>TCA401776039RBBP8c.985G>T (p.Val329Leu)
c.163G>T (p.Val55Leu)
c.691G>T (p.Val231Leu)
 dbSNP
18g.22992813T>ACA401776040RBBP8c.986T>A (p.Val329Glu)
c.164T>A (p.Val55Glu)
c.692T>A (p.Val231Glu)
18g.22992813T>CCA401776041RBBP8c.986T>C (p.Val329Ala)
c.164T>C (p.Val55Ala)
c.692T>C (p.Val231Ala)
18g.22992813T>GCA401776042RBBP8c.986T>G (p.Val329Gly)
c.164T>G (p.Val55Gly)
c.692T>G (p.Val231Gly)
18g.22992814A>CCA503521009RBBP8c.987A>C (p.Val329=)
c.165A>C (p.Val55=)
c.693A>C (p.Val231=)
18g.22992814A>GCA503521008RBBP8c.987A>G (p.Val329=)
c.165A>G (p.Val55=)
c.693A>G (p.Val231=)
18g.22992814A>TCA503521007RBBP8c.987A>T (p.Val329=)
c.165A>T (p.Val55=)
c.693A>T (p.Val231=)
18g.22992815T>ACA401776045RBBP8c.988T>A (p.Phe330Ile)
c.166T>A (p.Phe56Ile)
c.694T>A (p.Phe232Ile)
18g.22992815T>CCA401776044RBBP8c.988T>C (p.Phe330Leu)
c.166T>C (p.Phe56Leu)
c.694T>C (p.Phe232Leu)
18g.22992815T>GCA401776043RBBP8c.988T>G (p.Phe330Val)
c.166T>G (p.Phe56Val)
c.694T>G (p.Phe232Val)
18g.22992817dupCA2641247334RBBP8c.990dup (p.Gly331TrpfsTer5)
c.168dup (p.Gly57TrpfsTer5)
c.696dup (p.Gly233TrpfsTer5)
 gnomAD v4
18g.22992816T>ACA401776046RBBP8c.989T>A (p.Phe330Tyr)
c.167T>A (p.Phe56Tyr)
c.695T>A (p.Phe232Tyr)
18g.22992816T>CCA401776047RBBP8c.989T>C (p.Phe330Ser)
c.167T>C (p.Phe56Ser)
c.695T>C (p.Phe232Ser)
18g.22992816T>GCA401776048RBBP8c.989T>G (p.Phe330Cys)
c.167T>G (p.Phe56Cys)
c.695T>G (p.Phe232Cys)
18g.22992817T>ACA401776049RBBP8c.990T>A (p.Phe330Leu)
c.168T>A (p.Phe56Leu)
c.696T>A (p.Phe232Leu)
18g.22992817T>CCA503521010RBBP8c.990T>C (p.Phe330=)
c.168T>C (p.Phe56=)
c.696T>C (p.Phe232=)
18g.22992817T>GCA401776050RBBP8c.990T>G (p.Phe330Leu)
c.168T>G (p.Phe56Leu)
c.696T>G (p.Phe232Leu)
18g.22992818G>ACA401776051RBBP8c.991G>A (p.Gly331Arg)
c.169G>A (p.Gly57Arg)
c.697G>A (p.Gly233Arg)
18g.22992818G>CCA401776052RBBP8c.991G>C (p.Gly331Arg)
c.169G>C (p.Gly57Arg)
c.697G>C (p.Gly233Arg)
18g.22992818G>TCA401776053RBBP8c.991G>T (p.Gly331Ter)
c.169G>T (p.Gly57Ter)
c.697G>T (p.Gly233Ter)
18g.22992819G>ACA401776054RBBP8c.992G>A (p.Gly331Glu)
c.170G>A (p.Gly57Glu)
c.698G>A (p.Gly233Glu)
18g.22992819G>CCA8909999RBBP8c.992G>C (p.Gly331Ala)
c.170G>C (p.Gly57Ala)
c.698G>C (p.Gly233Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.22992819G=CA2289916383RBBP8c.992G= (p.Gly331=)
c.170G= (p.Gly57=)
c.698G= (p.Gly233=)
18g.22992819G>TCA401776055RBBP8c.992G>T (p.Gly331Val)
c.170G>T (p.Gly57Val)
c.698G>T (p.Gly233Val)
 COSMIC COSMIC
18g.22992820A>CCA503521014RBBP8c.993A>C (p.Gly331=)
c.171A>C (p.Gly57=)
c.699A>C (p.Gly233=)
18g.22992820A>GCA503521015RBBP8c.993A>G (p.Gly331=)
c.171A>G (p.Gly57=)
c.699A>G (p.Gly233=)
18g.22992820A>TCA503521016RBBP8c.993A>T (p.Gly331=)
c.171A>T (p.Gly57=)
c.699A>T (p.Gly233=)
18g.22992821G>ACA401776058RBBP8c.994G>A (p.Ala332Thr)
c.172G>A (p.Ala58Thr)
c.700G>A (p.Ala234Thr)
18g.22992821G>CCA401776057RBBP8c.994G>C (p.Ala332Pro)
c.172G>C (p.Ala58Pro)
c.700G>C (p.Ala234Pro)
18g.22992821G>TCA401776056RBBP8c.994G>T (p.Ala332Ser)
c.172G>T (p.Ala58Ser)
c.700G>T (p.Ala234Ser)
18g.22992822C>ACA401776059RBBP8c.995C>A (p.Ala332Asp)
c.173C>A (p.Ala58Asp)
c.701C>A (p.Ala234Asp)
18g.22992822C=CA2289916385RBBP8c.995C= (p.Ala332=)
c.173C= (p.Ala58=)
c.701C= (p.Ala234=)
18g.22992822C>GCA401776060RBBP8c.995C>G (p.Ala332Gly)
c.173C>G (p.Ala58Gly)
c.701C>G (p.Ala234Gly)
 dbSNP
18g.22992822C>TCA401776061RBBP8c.995C>T (p.Ala332Val)
c.173C>T (p.Ala58Val)
c.701C>T (p.Ala234Val)
18g.22992823T>ACA503521020RBBP8c.996T>A (p.Ala332=)
c.174T>A (p.Ala58=)
c.702T>A (p.Ala234=)
18g.22992823T>CCA503521019RBBP8c.996T>C (p.Ala332=)
c.174T>C (p.Ala58=)
c.702T>C (p.Ala234=)
18g.22992823T>GCA503521018RBBP8c.996T>G (p.Ala332=)
c.174T>G (p.Ala58=)
c.702T>G (p.Ala234=)
18g.22992824A>CCA401776062RBBP8c.997A>C (p.Thr333Pro)
c.175A>C (p.Thr59Pro)
c.703A>C (p.Thr235Pro)
18g.22992824A>GCA401776063RBBP8c.997A>G (p.Thr333Ala)
c.175A>G (p.Thr59Ala)
c.703A>G (p.Thr235Ala)
18g.22992824A>TCA401776064RBBP8c.997A>T (p.Thr333Ser)
c.175A>T (p.Thr59Ser)
c.703A>T (p.Thr235Ser)
18g.22992825C>ACA401776065RBBP8c.998C>A (p.Thr333Asn)
c.176C>A (p.Thr59Asn)
c.704C>A (p.Thr235Asn)
 dbSNP gnomAD v4
18g.22992825C=CA2289916387RBBP8c.998C= (p.Thr333=)
c.176C= (p.Thr59=)
c.704C= (p.Thr235=)
18g.22992825C>GCA401776066RBBP8c.998C>G (p.Thr333Ser)
c.176C>G (p.Thr59Ser)
c.704C>G (p.Thr235Ser)
 gnomAD v4
18g.22992825C>TCA401776067RBBP8c.998C>T (p.Thr333Ile)
c.176C>T (p.Thr59Ile)
c.704C>T (p.Thr235Ile)
18g.22992826C>ACA503521022RBBP8c.999C>A (p.Thr333=)
c.177C>A (p.Thr59=)
c.705C>A (p.Thr235=)
18g.22992826C=CA2289916389RBBP8c.999C= (p.Thr333=)
c.177C= (p.Thr59=)
c.705C= (p.Thr235=)
18g.22992826C>GCA503521023RBBP8c.999C>G (p.Thr333=)
c.177C>G (p.Thr59=)
c.705C>G (p.Thr235=)
18g.22992826C>TCA8910000RBBP8c.999C>T (p.Thr333=)
c.177C>T (p.Thr59=)
c.705C>T (p.Thr235=)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.22992827T>ACA401776068RBBP8c.1000T>A (p.Ser334Thr)
c.178T>A (p.Ser60Thr)
c.706T>A (p.Ser236Thr)
18g.22992827T>CCA401776069RBBP8c.1000T>C (p.Ser334Pro)
c.178T>C (p.Ser60Pro)
c.706T>C (p.Ser236Pro)
18g.22992827T>GCA401776070RBBP8c.1000T>G (p.Ser334Ala)
c.178T>G (p.Ser60Ala)
c.706T>G (p.Ser236Ala)
18g.22992828C>ACA401776071RBBP8c.1001C>A (p.Ser334Tyr)
c.179C>A (p.Ser60Tyr)
c.707C>A (p.Ser236Tyr)
 dbSNP gnomAD v2 gnomAD v4
18g.22992828C=CA2289916391RBBP8c.1001C= (p.Ser334=)
c.179C= (p.Ser60=)
c.707C= (p.Ser236=)
18g.22992828C>GCA8910001RBBP8c.1001C>G (p.Ser334Cys)
c.179C>G (p.Ser60Cys)
c.707C>G (p.Ser236Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.22992828C>TCA401776072RBBP8c.1001C>T (p.Ser334Phe)
c.179C>T (p.Ser60Phe)
c.707C>T (p.Ser236Phe)
18g.22992829T>ACA503521024RBBP8c.1002T>A (p.Ser334=)
c.180T>A (p.Ser60=)
c.708T>A (p.Ser236=)
18g.22992829T>CCA503521025RBBP8c.1002T>C (p.Ser334=)
c.180T>C (p.Ser60=)
c.708T>C (p.Ser236=)
18g.22992829T>GCA503521026RBBP8c.1002T>G (p.Ser334=)
c.180T>G (p.Ser60=)
c.708T>G (p.Ser236=)
18g.22992830A>CCA401776073RBBP8c.1003A>C (p.Ser335Arg)
c.181A>C (p.Ser61Arg)
c.709A>C (p.Ser237Arg)
18g.22992830A>GCA401776074RBBP8c.1003A>G (p.Ser335Gly)
c.181A>G (p.Ser61Gly)
c.709A>G (p.Ser237Gly)
18g.22992830A>TCA401776075RBBP8c.1003A>T (p.Ser335Cys)
c.181A>T (p.Ser61Cys)
c.709A>T (p.Ser237Cys)
18g.22992831G>ACA401776076RBBP8c.1004G>A (p.Ser335Asn)
c.182G>A (p.Ser61Asn)
c.710G>A (p.Ser237Asn)
18g.22992831G>CCA401776077RBBP8c.1004G>C (p.Ser335Thr)
c.182G>C (p.Ser61Thr)
c.710G>C (p.Ser237Thr)
 dbSNP gnomAD v3 gnomAD v4
18g.22992831G=CA2289916094RBBP8c.1004G= (p.Ser335=)
c.182G= (p.Ser61=)
c.710G= (p.Ser237=)
18g.22992831G>TCA401776078RBBP8c.1004G>T (p.Ser335Ile)
c.182G>T (p.Ser61Ile)
c.710G>T (p.Ser237Ile)
18g.22992832T>ACA401776079RBBP8c.1005T>A (p.Ser335Arg)
c.183T>A (p.Ser61Arg)
c.711T>A (p.Ser237Arg)
18g.22992832T>CCA503521027RBBP8c.1005T>C (p.Ser335=)
c.183T>C (p.Ser61=)
c.711T>C (p.Ser237=)
18g.22992832T>GCA401776080RBBP8c.1005T>G (p.Ser335Arg)
c.183T>G (p.Ser61Arg)
c.711T>G (p.Ser237Arg)
18g.22992833A=CA2289916095RBBP8c.1006A= (p.Ile336=)
c.184A= (p.Ile62=)
c.712A= (p.Ile238=)
18g.22992833A>CCA401776081RBBP8c.1006A>C (p.Ile336Leu)
c.184A>C (p.Ile62Leu)
c.712A>C (p.Ile238Leu)
18g.22992833A>GCA401776082RBBP8c.1006A>G (p.Ile336Val)
c.184A>G (p.Ile62Val)
c.712A>G (p.Ile238Val)
 dbSNP gnomAD v3 gnomAD v4
18g.22992833A>TCA401776083RBBP8c.1006A>T (p.Ile336Phe)
c.184A>T (p.Ile62Phe)
c.712A>T (p.Ile238Phe)
18g.22992834T>ACA401776086RBBP8c.1007T>A (p.Ile336Asn)
c.185T>A (p.Ile62Asn)
c.713T>A (p.Ile238Asn)
18g.22992834T>CCA401776085RBBP8c.1007T>C (p.Ile336Thr)
c.185T>C (p.Ile62Thr)
c.713T>C (p.Ile238Thr)
18g.22992834T>GCA401776084RBBP8c.1007T>G (p.Ile336Ser)
c.185T>G (p.Ile62Ser)
c.713T>G (p.Ile238Ser)
18g.22992835C>ACA503521028RBBP8c.1008C>A (p.Ile336=)
c.186C>A (p.Ile62=)
c.714C>A (p.Ile238=)
 gnomAD v4
18g.22992835C>GCA401776087RBBP8c.1008C>G (p.Ile336Met)
c.186C>G (p.Ile62Met)
c.714C>G (p.Ile238Met)
18g.22992835C>TCA503521029RBBP8c.1008C>T (p.Ile336=)
c.186C>T (p.Ile62=)
c.714C>T (p.Ile238=)
18g.22992836A=CA2289916096RBBP8c.1009A= (p.Lys337=)
c.187A= (p.Lys63=)
c.715A= (p.Lys239=)
18g.22992836A>CCA401776088RBBP8c.1009A>C (p.Lys337Gln)
c.187A>C (p.Lys63Gln)
c.715A>C (p.Lys239Gln)
18g.22992836A>GCA117794RBBP8c.1009A>G (p.Lys337Glu)
c.187A>G (p.Lys63Glu)
c.715A>G (p.Lys239Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.22992836A>TCA401776089RBBP8c.1009A>T (p.Lys337Ter)
c.187A>T (p.Lys63Ter)
c.715A>T (p.Lys239Ter)
18g.22992839delCA2641247335RBBP8c.1012del (p.Ser338ValfsTer3)
c.190del (p.Ser64ValfsTer3)
c.718del (p.Ser240ValfsTer3)
 gnomAD v4

Number of alleles fetched