Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.41869024_41869032delCA2695228800RPS19c.186-7_187del
c.173-7_174del
c.-50-7_-49del
c.1011-7_1012del
c.254-7_255del
19g.41869032T>ACA406029802RPS19c.187T>A (p.Phe63Ile)
c.174T>A (p.Ala58=)
c.-49T>A (n.-49T>A)
c.1012T>A (n.1012T>A)
c.255T>A (p.Ala85=)
19g.41869032T>CCA406029804RPS19c.187T>C (p.Phe63Leu)
c.174T>C (p.Ala58=)
c.-49T>C (n.-49T>C)
c.1012T>C (n.1012T>C)
c.255T>C (p.Ala85=)
19g.41869032T>GCA406029805RPS19c.187T>G (p.Phe63Val)
c.174T>G (p.Ala58=)
c.-49T>G (n.-49T>G)
c.1012T>G (n.1012T>G)
c.255T>G (p.Ala85=)
19g.41869033T>ACA406029808RPS19c.188T>A (p.Phe63Tyr)
c.175T>A (p.Ser59Thr)
c.-48T>A (n.-48T>A)
c.1013T>A (n.1013T>A)
c.256T>A (p.Ser86Thr)
19g.41869033T>CCA406029809RPS19c.188T>C (p.Phe63Ser)
c.175T>C (p.Ser59Pro)
c.-48T>C (n.-48T>C)
c.1013T>C (n.1013T>C)
c.256T>C (p.Ser86Pro)
19g.41869033T>GCA406029810RPS19c.188T>G (p.Phe63Cys)
c.175T>G (p.Ser59Ala)
c.-48T>G (n.-48T>G)
c.1013T>G (n.1013T>G)
c.256T>G (p.Ser86Ala)
19g.41869033_41869034delinsCTCA915951693RPS19c.188_189delinsCT (p.Phe63Ser)
c.175_176delinsCT (p.Ser59Leu)
c.-48_-47delinsCT (n.-48_-47delinsCT)
c.1013_1014delinsCT (n.1013_1014delinsCT)
c.256_257delinsCT (p.Ser86Leu)
 ClinVar dbSNP
19g.41869033_41869034delinsTCCA2336668840RPS19c.188_189delinsTC (p.Phe63=)
c.175_176delinsTC (p.Ser59=)
c.-48_-47delinsTC (n.-48_-47delinsTC)
c.1013_1014delinsTC (n.1013_1014delinsTC)
c.256_257delinsTC (p.Ser86=)
19g.41869034C>ACA406029813RPS19c.189C>A (p.Phe63Leu)
c.176C>A (p.Ser59Tyr)
c.-47C>A (n.-47C>A)
c.1014C>A (n.1014C>A)
c.257C>A (p.Ser86Tyr)
19g.41869034C>GCA406029815RPS19c.189C>G (p.Phe63Leu)
c.176C>G (p.Ser59Cys)
c.-47C>G (n.-47C>G)
c.1014C>G (n.1014C>G)
c.257C>G (p.Ser86Cys)
19g.41869034C>TCA406029817RPS19c.189C>T (p.Phe63=)
c.176C>T (p.Ser59Phe)
c.-47C>T (n.-47C>T)
c.1014C>T (n.1014C>T)
c.257C>T (p.Ser86Phe)
 ClinVar
19g.41869035C>ACA406029827RPS19c.190C>A (p.His64Asn)
c.177C>A (p.Ser59=)
c.-46C>A (n.-46C>A)
c.1015C>A (n.1015C>A)
c.258C>A (p.Ser86=)
19g.41869035C>GCA406029824RPS19c.190C>G (p.His64Asp)
c.177C>G (p.Ser59=)
c.-46C>G (n.-46C>G)
c.1015C>G (n.1015C>G)
c.258C>G (p.Ser86=)
19g.41869035C>TCA406029823RPS19c.190C>T (p.His64Tyr)
c.177C>T (p.Ser59=)
c.-46C>T (n.-46C>T)
c.1015C>T (n.1015C>T)
c.258C>T (p.Ser86=)
19g.41869036A=CA2336668841RPS19c.191A= (p.His64=)
c.178A= (p.Thr60=)
c.-45A= (n.-45A=)
c.1016A= (n.1016A=)
c.259A= (p.Thr87=)
19g.41869036A>CCA406029829RPS19c.191A>C (p.His64Pro)
c.178A>C (p.Thr60Pro)
c.-45A>C (n.-45A>C)
c.1016A>C (n.1016A>C)
c.259A>C (p.Thr87Pro)
 ClinVar dbSNP
19g.41869036A>GCA9465341RPS19c.191A>G (p.His64Arg)
c.178A>G (p.Thr60Ala)
c.-45A>G (n.-45A>G)
c.1016A>G (n.1016A>G)
c.259A>G (p.Thr87Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41869036A>TCA406029832RPS19c.191A>T (p.His64Leu)
c.178A>T (p.Thr60Ser)
c.-45A>T (n.-45A>T)
c.1016A>T (n.1016A>T)
c.259A>T (p.Thr87Ser)
19g.41869037C>ACA406029836RPS19c.192C>A (p.His64Gln)
c.179C>A (p.Thr60Lys)
c.-44C>A (n.-44C>A)
c.1017C>A (n.1017C>A)
c.260C>A (p.Thr87Lys)
19g.41869037C=CA2336668842RPS19c.192C= (p.His64=)
c.179C= (p.Thr60=)
c.-44C= (n.-44C=)
c.1017C= (n.1017C=)
c.260C= (p.Thr87=)
19g.41869037C>GCA406029838RPS19c.192C>G (p.His64Gln)
c.179C>G (p.Thr60Arg)
c.-44C>G (n.-44C>G)
c.1017C>G (n.1017C>G)
c.260C>G (p.Thr87Arg)
19g.41869037C>TCA9465342RPS19c.192C>T (p.His64=)
c.179C>T (p.Thr60Ile)
c.-44C>T (n.-44C>T)
c.1017C>T (n.1017C>T)
c.260C>T (p.Thr87Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41869038A>CCA406029842RPS19c.193A>C (p.Ser65Arg)
c.180A>C (p.Thr60=)
c.-43A>C (n.-43A>C)
c.1018A>C (n.1018A>C)
c.261A>C (p.Thr87=)
19g.41869038A>GCA406029844RPS19c.193A>G (p.Ser65Gly)
c.180A>G (p.Thr60=)
c.-43A>G (n.-43A>G)
c.1018A>G (n.1018A>G)
c.261A>G (p.Thr87=)
19g.41869038A>TCA406029845RPS19c.193A>T (p.Ser65Cys)
c.180A>T (p.Thr60=)
c.-43A>T (n.-43A>T)
c.1018A>T (n.1018A>T)
c.261A>T (p.Thr87=)
19g.41869039G>ACA406029852RPS19c.194G>A (p.Ser65Asn)
c.181G>A (p.Ala61Thr)
c.-42G>A (n.-42G>A)
c.1019G>A (n.1019G>A)
c.262G>A (p.Ala88Thr)
19g.41869039G>CCA406029850RPS19c.194G>C (p.Ser65Thr)
c.181G>C (p.Ala61Pro)
c.-42G>C (n.-42G>C)
c.1019G>C (n.1019G>C)
c.262G>C (p.Ala88Pro)
19g.41869039G>TCA406029848RPS19c.194G>T (p.Ser65Ile)
c.181G>T (p.Ala61Ser)
c.-42G>T (n.-42G>T)
c.1019G>T (n.1019G>T)
c.262G>T (p.Ala88Ser)
19g.41869040C>ACA406029855RPS19c.195C>A (p.Ser65Arg)
c.182C>A (p.Ala61Glu)
c.-41C>A (n.-41C>A)
c.1020C>A (n.1020C>A)
c.263C>A (p.Ala88Glu)
19g.41869040C=CA2336668843RPS19c.195C= (p.Ser65=)
c.182C= (p.Ala61=)
c.-41C= (n.-41C=)
c.1020C= (n.1020C=)
c.263C= (p.Ala88=)
19g.41869040C>GCA406029857RPS19c.195C>G (p.Ser65Arg)
c.182C>G (p.Ala61Gly)
c.-41C>G (n.-41C>G)
c.1020C>G (n.1020C>G)
c.263C>G (p.Ala88Gly)
19g.41869040C>TCA308568058RPS19c.195C>T (p.Ser65=)
c.182C>T (p.Ala61Val)
c.-41C>T (n.-41C>T)
c.1020C>T (n.1020C>T)
c.263C>T (p.Ala88Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.41869041G>ACA9465343RPS19c.196G>A (p.Ala66Thr)
c.183G>A (p.Ala61=)
c.-40G>A (n.-40G>A)
c.1021G>A (n.1021G>A)
c.264G>A (p.Ala88=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41869041G>CCA406029862RPS19c.196G>C (p.Ala66Pro)
c.183G>C (p.Ala61=)
c.-40G>C (n.-40G>C)
c.1021G>C (n.1021G>C)
c.264G>C (p.Ala88=)
 ClinVar
19g.41869041G=CA2336668844RPS19c.196G= (p.Ala66=)
c.183G= (p.Ala61=)
c.-40G= (n.-40G=)
c.1021G= (n.1021G=)
c.264G= (p.Ala88=)
19g.41869041G>TCA406029864RPS19c.196G>T (p.Ala66Ser)
c.183G>T (p.Ala61=)
c.-40G>T (n.-40G>T)
c.1021G>T (n.1021G>T)
c.264G>T (p.Ala88=)
19g.41869042C>ACA406029867RPS19c.197C>A (p.Ala66Glu)
c.184C>A (p.Arg62=)
c.-39C>A (n.-39C>A)
c.1022C>A (n.1022C>A)
c.265C>A (p.Arg89=)
 dbSNP gnomAD v4
19g.41869042C=CA2336668845RPS19c.197C= (p.Ala66=)
c.184C= (p.Arg62=)
c.-39C= (n.-39C=)
c.1022C= (n.1022C=)
c.265C= (p.Arg89=)
19g.41869042C>GCA406029869RPS19c.197C>G (p.Ala66Gly)
c.184C>G (p.Arg62Gly)
c.-39C>G (n.-39C>G)
c.1022C>G (n.1022C>G)
c.265C>G (p.Arg89Gly)
19g.41869042C>TCA130763RPS19c.197C>T (p.Ala66Val)
c.184C>T (p.Arg62Trp)
c.-39C>T (n.-39C>T)
c.1022C>T (n.1022C>T)
c.265C>T (p.Arg89Trp)
 ClinVar dbSNP
19g.41869043G>ACA406029872RPS19c.198G>A (p.Ala66=)
c.185G>A (p.Arg62Gln)
c.-38G>A (n.-38G>A)
c.1023G>A (n.1023G>A)
c.266G>A (p.Arg89Gln)
 ClinVar dbSNP
19g.41869043G>CCA406029874RPS19c.198G>C (p.Ala66=)
c.185G>C (p.Arg62Pro)
c.-38G>C (n.-38G>C)
c.1023G>C (n.1023G>C)
c.266G>C (p.Arg89Pro)
 ClinVar dbSNP
19g.41869043G=CA2336668846RPS19c.198G= (p.Ala66=)
c.185G= (p.Arg62=)
c.-38G= (n.-38G=)
c.1023G= (n.1023G=)
c.266G= (p.Arg89=)
19g.41869043G>TCA406029876RPS19c.198G>T (p.Ala66=)
c.185G>T (p.Arg62Leu)
c.-38G>T (n.-38G>T)
c.1023G>T (n.1023G>T)
c.266G>T (p.Arg89Leu)
19g.41869044G>ACA406029879RPS19c.199G>A (p.Ala67Thr)
c.186G>A (p.Arg62=)
c.-37G>A (n.-37G>A)
c.1024G>A (n.1024G>A)
c.267G>A (p.Arg89=)
 gnomAD v4
19g.41869044G>CCA406029880RPS19c.199G>C (p.Ala67Pro)
c.186G>C (p.Arg62=)
c.-37G>C (n.-37G>C)
c.1024G>C (n.1024G>C)
c.267G>C (p.Arg89=)
19g.41869044G>TCA406029882RPS19c.199G>T (p.Ala67Ser)
c.186G>T (p.Arg62=)
c.-37G>T (n.-37G>T)
c.1024G>T (n.1024G>T)
c.267G>T (p.Arg89=)
19g.41869044_41869045delCA2740097975RPS19c.199_200del (p.Ala67ThrfsTer13)
c.186_187del (p.His63ProfsTer?)
c.-37_-36del (n.-37_-36del)
c.1024_1025del (n.1024_1025del)
c.267_268del (p.His90ProfsTer?)
 ClinVar
19g.41869045C>ACA406029885RPS19c.200C>A (p.Ala67Glu)
c.187C>A (p.His63Asn)
c.-36C>A (n.-36C>A)
c.1025C>A (n.1025C>A)
c.268C>A (p.His90Asn)
19g.41869045C>GCA406029886RPS19c.200C>G (p.Ala67Gly)
c.187C>G (p.His63Asp)
c.-36C>G (n.-36C>G)
c.1025C>G (n.1025C>G)
c.268C>G (p.His90Asp)
19g.41869045C>TCA406029888RPS19c.200C>T (p.Ala67Val)
c.187C>T (p.His63Tyr)
c.-36C>T (n.-36C>T)
c.1025C>T (n.1025C>T)
c.268C>T (p.His90Tyr)
19g.41869046_41869048dupCA2695228809RPS19c.201_203dup (p.Pro68_Val69insPro)
c.188_190dup (p.His63_Leu64insHis)
c.-35_-33dup (n.-35_-33dup)
c.1026_1028dup (n.1026_1028dup)
c.269_271dup (p.His90_Leu91insHis)
19g.41869046A>CCA406029890RPS19c.201A>C (p.Ala67=)
c.188A>C (p.His63Pro)
c.-35A>C (n.-35A>C)
c.1026A>C (n.1026A>C)
c.269A>C (p.His90Pro)
 ClinVar
19g.41869046A>GCA406029893RPS19c.201A>G (p.Ala67=)
c.188A>G (p.His63Arg)
c.-35A>G (n.-35A>G)
c.1026A>G (n.1026A>G)
c.269A>G (p.His90Arg)
19g.41869046A>TCA406029895RPS19c.201A>T (p.Ala67=)
c.188A>T (p.His63Leu)
c.-35A>T (n.-35A>T)
c.1026A>T (n.1026A>T)
c.269A>T (p.His90Leu)
19g.41869047C>ACA406029897RPS19c.202C>A (p.Pro68Thr)
c.189C>A (p.His63Gln)
c.-34C>A (n.-34C>A)
c.1027C>A (n.1027C>A)
c.270C>A (p.His90Gln)
19g.41869047C=CA2336668847RPS19c.202C= (p.Pro68=)
c.189C= (p.His63=)
c.-34C= (n.-34C=)
c.1027C= (n.1027C=)
c.270C= (p.His90=)
19g.41869047C>GCA9465344RPS19c.202C>G (p.Pro68Ala)
c.189C>G (p.His63Gln)
c.-34C>G (n.-34C>G)
c.1027C>G (n.1027C>G)
c.270C>G (p.His90Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41869047C>TCA406029899RPS19c.202C>T (p.Pro68Ser)
c.189C>T (p.His63=)
c.-34C>T (n.-34C>T)
c.1027C>T (n.1027C>T)
c.270C>T (p.His90=)
 gnomAD v4
19g.41869048C>ACA406029902RPS19c.203C>A (p.Pro68His)
c.190C>A (p.Leu64Met)
c.-33C>A (n.-33C>A)
c.1028C>A (n.1028C>A)
c.271C>A (p.Leu91Met)
19g.41869048C=CA2336668848RPS19c.203C= (p.Pro68=)
c.190C= (p.Leu64=)
c.-33C= (n.-33C=)
c.1028C= (n.1028C=)
c.271C= (p.Leu91=)
19g.41869048C>GCA406029904RPS19c.203C>G (p.Pro68Arg)
c.190C>G (p.Leu64Val)
c.-33C>G (n.-33C>G)
c.1028C>G (n.1028C>G)
c.271C>G (p.Leu91Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41869048C>TCA406029906RPS19c.203C>T (p.Pro68Leu)
c.190C>T (p.Leu64=)
c.-33C>T (n.-33C>T)
c.1028C>T (n.1028C>T)
c.271C>T (p.Leu91=)
 gnomAD v4
19g.41869049T>ACA406029909RPS19c.204T>A (p.Pro68=)
c.191T>A (p.Leu64Gln)
c.-32T>A (n.-32T>A)
c.1029T>A (n.1029T>A)
c.272T>A (p.Leu91Gln)
19g.41869049T>CCA406029911RPS19c.204T>C (p.Pro68=)
c.191T>C (p.Leu64Pro)
c.-32T>C (n.-32T>C)
c.1029T>C (n.1029T>C)
c.272T>C (p.Leu91Pro)
 ClinVar dbSNP gnomAD v2
19g.41869049T>GCA406029914RPS19c.204T>G (p.Pro68=)
c.191T>G (p.Leu64Arg)
c.-32T>G (n.-32T>G)
c.1029T>G (n.1029T>G)
c.272T>G (p.Leu91Arg)
19g.41869049T=CA2336668849RPS19c.204T= (p.Pro68=)
c.191T= (p.Leu64=)
c.-32T= (n.-32T=)
c.1029T= (n.1029T=)
c.272T= (p.Leu91=)
19g.41869050G>ACA9465346RPS19c.205G>A (p.Val69Ile)
c.192G>A (p.Leu64=)
c.-31G>A (n.-31G>A)
c.1030G>A (n.1030G>A)
c.273G>A (p.Leu91=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41869050G>CCA9465345RPS19c.205G>C (p.Val69Leu)
c.192G>C (p.Leu64=)
c.-31G>C (n.-31G>C)
c.1030G>C (n.1030G>C)
c.273G>C (p.Leu91=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41869050G=CA2336668850RPS19c.205G= (p.Val69=)
c.192G= (p.Leu64=)
c.-31G= (n.-31G=)
c.1030G= (n.1030G=)
c.273G= (p.Leu91=)
19g.41869050G>TCA406029917RPS19c.205G>T (p.Val69Leu)
c.192G>T (p.Leu64=)
c.-31G>T (n.-31G>T)
c.1030G>T (n.1030G>T)
c.273G>T (p.Leu91=)
 dbSNP gnomAD v4
19g.41869051T>ACA406029919RPS19c.206T>A (p.Val69Glu)
c.193T>A (p.Tyr65Asn)
c.-30T>A (n.-30T>A)
c.1031T>A (n.1031T>A)
c.274T>A (p.Tyr92Asn)
19g.41869051T>CCA406029921RPS19c.206T>C (p.Val69Ala)
c.193T>C (p.Tyr65His)
c.-30T>C (n.-30T>C)
c.1031T>C (n.1031T>C)
c.274T>C (p.Tyr92His)
19g.41869051T>GCA406029923RPS19c.206T>G (p.Val69Gly)
c.193T>G (p.Tyr65Asp)
c.-30T>G (n.-30T>G)
c.1031T>G (n.1031T>G)
c.274T>G (p.Tyr92Asp)
19g.41869052A>CCA406029929RPS19c.207A>C (p.Val69=)
c.194A>C (p.Tyr65Ser)
c.-29A>C (n.-29A>C)
c.1032A>C (n.1032A>C)
c.275A>C (p.Tyr92Ser)
19g.41869052A>GCA406029928RPS19c.207A>G (p.Val69=)
c.194A>G (p.Tyr65Cys)
c.-29A>G (n.-29A>G)
c.1032A>G (n.1032A>G)
c.275A>G (p.Tyr92Cys)
19g.41869052A>TCA406029925RPS19c.207A>T (p.Val69=)
c.194A>T (p.Tyr65Phe)
c.-29A>T (n.-29A>T)
c.1032A>T (n.1032A>T)
c.275A>T (p.Tyr92Phe)
19g.41869053C>ACA406029932RPS19c.208C>A (p.Pro70Thr)
c.195C>A (p.Tyr65Ter)
c.-28C>A (n.-28C>A)
c.1033C>A (n.1033C>A)
c.276C>A (p.Tyr92Ter)
19g.41869053C>GCA406029933RPS19c.208C>G (p.Pro70Ala)
c.195C>G (p.Tyr65Ter)
c.-28C>G (n.-28C>G)
c.1033C>G (n.1033C>G)
c.276C>G (p.Tyr92Ter)
19g.41869053C>TCA406029935RPS19c.208C>T (p.Pro70Ser)
c.195C>T (p.Tyr65=)
c.-28C>T (n.-28C>T)
c.1033C>T (n.1033C>T)
c.276C>T (p.Tyr92=)
 gnomAD v4
19g.41869054C>ACA406029938RPS19c.209C>A (p.Pro70His)
c.196C>A (p.Leu66Ile)
c.-27C>A (n.-27C>A)
c.1034C>A (n.1034C>A)
c.277C>A (p.Leu93Ile)
19g.41869054C>GCA406029940RPS19c.209C>G (p.Pro70Arg)
c.196C>G (p.Leu66Val)
c.-27C>G (n.-27C>G)
c.1034C>G (n.1034C>G)
c.277C>G (p.Leu93Val)
19g.41869054C>TCA406029942RPS19c.209C>T (p.Pro70Leu)
c.196C>T (p.Leu66Phe)
c.-27C>T (n.-27C>T)
c.1034C>T (n.1034C>T)
c.277C>T (p.Leu93Phe)
 COSMIC
19g.41869055_41869065delCA2695228810RPS19c.210_220del (p.Pro71LeufsTer6)
c.197_207del (p.Leu66ArgfsTer?)
c.-26_-16del (n.-26_-16del)
c.1035_1045del (n.1035_1045del)
c.278_288del (p.Leu93ArgfsTer?)
19g.41869055T>ACA406029945RPS19c.210T>A (p.Pro70=)
c.197T>A (p.Leu66His)
c.-26T>A (n.-26T>A)
c.1035T>A (n.1035T>A)
c.278T>A (p.Leu93His)
19g.41869055T>CCA406029947RPS19c.210T>C (p.Pro70=)
c.197T>C (p.Leu66Pro)
c.-26T>C (n.-26T>C)
c.1035T>C (n.1035T>C)
c.278T>C (p.Leu93Pro)
19g.41869055T>GCA406029948RPS19c.210T>G (p.Pro70=)
c.197T>G (p.Leu66Arg)
c.-26T>G (n.-26T>G)
c.1035T>G (n.1035T>G)
c.278T>G (p.Leu93Arg)
19g.41869056C>ACA406029952RPS19c.211C>A (p.Pro71Thr)
c.198C>A (p.Leu66=)
c.-25C>A (n.-25C>A)
c.1036C>A (n.1036C>A)
c.279C>A (p.Leu93=)
19g.41869056C=CA2336668851RPS19c.211C= (p.Pro71=)
c.198C= (p.Leu66=)
c.-25C= (n.-25C=)
c.1036C= (n.1036C=)
c.279C= (p.Leu93=)
19g.41869056C>GCA406029954RPS19c.211C>G (p.Pro71Ala)
c.198C>G (p.Leu66=)
c.-25C>G (n.-25C>G)
c.1036C>G (n.1036C>G)
c.279C>G (p.Leu93=)
19g.41869056C>TCA406029956RPS19c.211C>T (p.Pro71Ser)
c.198C>T (p.Leu66=)
c.-25C>T (n.-25C>T)
c.1036C>T (n.1036C>T)
c.279C>T (p.Leu93=)
 ClinVar dbSNP gnomAD v4
19g.41869057C>ACA9465347RPS19c.212C>A (p.Pro71Gln)
c.199C>A (p.Arg67=)
c.-24C>A (n.-24C>A)
c.1037C>A (n.1037C>A)
c.280C>A (p.Arg94=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41869057C=CA2336668852RPS19c.212C= (p.Pro71=)
c.199C= (p.Arg67=)
c.-24C= (n.-24C=)
c.1037C= (n.1037C=)
c.280C= (p.Arg94=)
19g.41869057C>GCA406029961RPS19c.212C>G (p.Pro71Arg)
c.199C>G (p.Arg67Gly)
c.-24C>G (n.-24C>G)
c.1037C>G (n.1037C>G)
c.280C>G (p.Arg94Gly)
19g.41869057C>TCA406029959RPS19c.212C>T (p.Pro71Leu)
c.199C>T (p.Arg67Trp)
c.-24C>T (n.-24C>T)
c.1037C>T (n.1037C>T)
c.280C>T (p.Arg94Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.41869058G>ACA308568091RPS19c.213G>A (p.Pro71=)
c.200G>A (p.Arg67Gln)
c.-23G>A (n.-23G>A)
c.1038G>A (n.1038G>A)
c.281G>A (p.Arg94Gln)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.41869058G>CCA406029967RPS19c.213G>C (p.Pro71=)
c.200G>C (p.Arg67Pro)
c.-23G>C (n.-23G>C)
c.1038G>C (n.1038G>C)
c.281G>C (p.Arg94Pro)
 ClinVar
19g.41869058G=CA2336668853RPS19c.213G= (p.Pro71=)
c.200G= (p.Arg67=)
c.-23G= (n.-23G=)
c.1038G= (n.1038G=)
c.281G= (p.Arg94=)
19g.41869058G>TCA406029965RPS19c.213G>T (p.Pro71=)
c.200G>T (p.Arg67Leu)
c.-23G>T (n.-23G>T)
c.1038G>T (n.1038G>T)
c.281G>T (p.Arg94Leu)
 gnomAD v4
19g.41869061dupCA2695228811RPS19c.216dup (p.Trp73ValfsTer8)
c.203dup (p.Gly69TrpfsTer?)
c.-20dup (n.-20dup)
c.1041dup (n.1041dup)
c.284dup (p.Gly96TrpfsTer?)
19g.41869059G>ACA406029969RPS19c.214G>A (p.Gly72Arg)
c.201G>A (p.Arg67=)
c.-22G>A (n.-22G>A)
c.1039G>A (n.1039G>A)
c.282G>A (p.Arg94=)
 dbSNP
19g.41869059G>CCA9465348RPS19c.214G>C (p.Gly72Arg)
c.201G>C (p.Arg67=)
c.-22G>C (n.-22G>C)
c.1039G>C (n.1039G>C)
c.282G>C (p.Arg94=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41869059G=CA2336668854RPS19c.214G= (p.Gly72=)
c.201G= (p.Arg67=)
c.-22G= (n.-22G=)
c.1039G= (n.1039G=)
c.282G= (p.Arg94=)
19g.41869059G>TCA406029972RPS19c.214G>T (p.Gly72Trp)
c.201G>T (p.Arg67=)
c.-22G>T (n.-22G>T)
c.1039G>T (n.1039G>T)
c.282G>T (p.Arg94=)
19g.41869060G>ACA406029974RPS19c.215G>A (p.Gly72Glu)
c.202G>A (p.Gly68Ser)
c.-21G>A (n.-21G>A)
c.1040G>A (n.1040G>A)
c.283G>A (p.Gly95Ser)
19g.41869060G>CCA406029976RPS19c.215G>C (p.Gly72Ala)
c.202G>C (p.Gly68Arg)
c.-21G>C (n.-21G>C)
c.1040G>C (n.1040G>C)
c.283G>C (p.Gly95Arg)
19g.41869060G>TCA406029978RPS19c.215G>T (p.Gly72Val)
c.202G>T (p.Gly68Cys)
c.-21G>T (n.-21G>T)
c.1040G>T (n.1040G>T)
c.283G>T (p.Gly95Cys)
19g.41869061G>ACA406029981RPS19c.216G>A (p.Gly72=)
c.203G>A (p.Gly68Asp)
c.-20G>A (n.-20G>A)
c.1041G>A (n.1041G>A)
c.284G>A (p.Gly95Asp)
19g.41869061G>CCA406029983RPS19c.216G>C (p.Gly72=)
c.203G>C (p.Gly68Ala)
c.-20G>C (n.-20G>C)
c.1041G>C (n.1041G>C)
c.284G>C (p.Gly95Ala)
19g.41869061G>TCA406029985RPS19c.216G>T (p.Gly72=)
c.203G>T (p.Gly68Val)
c.-20G>T (n.-20G>T)
c.1041G>T (n.1041G>T)
c.284G>T (p.Gly95Val)
19g.41869062T>ACA406029988RPS19c.217T>A (p.Trp73Arg)
c.204T>A (p.Gly68=)
c.-19T>A (n.-19T>A)
c.1042T>A (n.1042T>A)
c.285T>A (p.Gly95=)
19g.41869062T>CCA406029990RPS19c.217T>C (p.Trp73Arg)
c.204T>C (p.Gly68=)
c.-19T>C (n.-19T>C)
c.1042T>C (n.1042T>C)
c.285T>C (p.Gly95=)
 dbSNP
19g.41869062T>GCA406029992RPS19c.217T>G (p.Trp73Gly)
c.204T>G (p.Gly68=)
c.-19T>G (n.-19T>G)
c.1042T>G (n.1042T>G)
c.285T>G (p.Gly95=)
19g.41869062T=CA2336668855RPS19c.217T= (p.Trp73=)
c.204T= (p.Gly68=)
c.-19T= (n.-19T=)
c.1042T= (n.1042T=)
c.285T= (p.Gly95=)
19g.41869063G>ACA406029994RPS19c.218G>A (p.Trp73Ter)
c.205G>A (p.Gly69Ser)
c.-18G>A (n.-18G>A)
c.1043G>A (n.1043G>A)
c.286G>A (p.Gly96Ser)
 gnomAD v4
19g.41869063G>CCA406029999RPS19c.218G>C (p.Trp73Ser)
c.205G>C (p.Gly69Arg)
c.-18G>C (n.-18G>C)
c.1043G>C (n.1043G>C)
c.286G>C (p.Gly96Arg)
19g.41869063G>TCA406029996RPS19c.218G>T (p.Trp73Leu)
c.205G>T (p.Gly69Cys)
c.-18G>T (n.-18G>T)
c.1043G>T (n.1043G>T)
c.286G>T (p.Gly96Cys)
19g.41869064G>ACA406030001RPS19c.219G>A (p.Trp73Ter)
c.206G>A (p.Gly69Asp)
c.-17G>A (n.-17G>A)
c.1044G>A (n.1044G>A)
c.287G>A (p.Gly96Asp)
19g.41869064G>CCA406030005RPS19c.219G>C (p.Trp73Cys)
c.206G>C (p.Gly69Ala)
c.-17G>C (n.-17G>C)
c.1044G>C (n.1044G>C)
c.287G>C (p.Gly96Ala)
19g.41869064G>TCA406030006RPS19c.219G>T (p.Trp73Cys)
c.206G>T (p.Gly69Val)
c.-17G>T (n.-17G>T)
c.1044G>T (n.1044G>T)
c.287G>T (p.Gly96Val)
19g.41869065C>ACA406030010RPS19c.220C>A (p.Arg74Ser)
c.207C>A (p.Gly69=)
c.-16C>A (n.-16C>A)
c.1045C>A (n.1045C>A)
c.288C>A (p.Gly96=)
19g.41869065C=CA2336668856RPS19c.220C= (p.Arg74=)
c.207C= (p.Gly69=)
c.-16C= (n.-16C=)
c.1045C= (n.1045C=)
c.288C= (p.Gly96=)
19g.41869065C>GCA406030013RPS19c.220C>G (p.Arg74Gly)
c.207C>G (p.Gly69=)
c.-16C>G (n.-16C>G)
c.1045C>G (n.1045C>G)
c.288C>G (p.Gly96=)
19g.41869065C>TCA308568116RPS19c.220C>T (p.Arg74Cys)
c.207C>T (p.Gly69=)
c.-16C>T (n.-16C>T)
c.1045C>T (n.1045C>T)
c.288C>T (p.Gly96=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.41869066G>ACA9465349RPS19c.221G>A (p.Arg74His)
c.208G>A (p.Ala70Thr)
c.-15G>A (n.-15G>A)
c.1046G>A (n.1046G>A)
c.289G>A (p.Ala97Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41869066G>CCA406030018RPS19c.221G>C (p.Arg74Pro)
c.208G>C (p.Ala70Pro)
c.-15G>C (n.-15G>C)
c.1046G>C (n.1046G>C)
c.289G>C (p.Ala97Pro)
19g.41869066G=CA2336668857RPS19c.221G= (p.Arg74=)
c.208G= (p.Ala70=)
c.-15G= (n.-15G=)
c.1046G= (n.1046G=)
c.289G= (p.Ala97=)
19g.41869066G>TCA406030020RPS19c.221G>T (p.Arg74Leu)
c.208G>T (p.Ala70Ser)
c.-15G>T (n.-15G>T)
c.1046G>T (n.1046G>T)
c.289G>T (p.Ala97Ser)
 gnomAD v4
19g.41869067C>ACA406030026RPS19c.222C>A (p.Arg74=)
c.209C>A (p.Ala70Asp)
c.-14C>A (n.-14C>A)
c.1047C>A (n.1047C>A)
c.290C>A (p.Ala97Asp)
19g.41869067C>GCA406030024RPS19c.222C>G (p.Arg74=)
c.209C>G (p.Ala70Gly)
c.-14C>G (n.-14C>G)
c.1047C>G (n.1047C>G)
c.290C>G (p.Ala97Gly)
19g.41869067C>TCA406030023RPS19c.222C>T (p.Arg74=)
c.209C>T (p.Ala70Val)
c.-14C>T (n.-14C>T)
c.1047C>T (n.1047C>T)
c.290C>T (p.Ala97Val)
 COSMIC
19g.41869068T>ACA406030029RPS19c.223T>A (p.Trp75Arg)
c.210T>A (p.Ala70=)
c.-13T>A (n.-13T>A)
c.1048T>A (n.1048T>A)
c.291T>A (p.Ala97=)
 dbSNP
19g.41869068T>CCA406030031RPS19c.223T>C (p.Trp75Arg)
c.210T>C (p.Ala70=)
c.-13T>C (n.-13T>C)
c.1048T>C (n.1048T>C)
c.291T>C (p.Ala97=)
19g.41869068T>GCA406030033RPS19c.223T>G (p.Trp75Gly)
c.210T>G (p.Ala70=)
c.-13T>G (n.-13T>G)
c.1048T>G (n.1048T>G)
c.291T>G (p.Ala97=)
19g.41869068T=CA2336668858RPS19c.223T= (p.Trp75=)
c.210T= (p.Ala70=)
c.-13T= (n.-13T=)
c.1048T= (n.1048T=)
c.291T= (p.Ala97=)
19g.41869069G>ACA406030035RPS19c.224G>A (p.Trp75Ter)
c.211G>A (p.Gly71Arg)
c.-12G>A (n.-12G>A)
c.1049G>A (n.1049G>A)
c.292G>A (p.Gly98Arg)
19g.41869069G>CCA406030037RPS19c.224G>C (p.Trp75Ser)
c.211G>C (p.Gly71Arg)
c.-12G>C (n.-12G>C)
c.1049G>C (n.1049G>C)
c.292G>C (p.Gly98Arg)
19g.41869069G>TCA406030039RPS19c.224G>T (p.Trp75Leu)
c.211G>T (p.Gly71Trp)
c.-12G>T (n.-12G>T)
c.1049G>T (n.1049G>T)
c.292G>T (p.Gly98Trp)
19g.41869072delCA2695228812RPS19c.227del (p.Gly76ValfsTer?)
c.214del (p.Val72LeufsTer4)
c.-9del (n.-9del)
c.1052del (n.1052del)
c.295del (p.Val99LeufsTer4)
19g.41869069_41869080dupCA996008870RPS19c.224_235dup (p.Leu78_His79insArgGlyTrpLeu)
c.211_222dup (p.Ser74_Met75insGlyValGlySer)
c.-12_-1dup (p.Met1insGlyValGlySer)
c.1049_1060dup (n.1049_1060dup)
c.292_303dup (p.Ser101_Met102insGlyValGlySer)
 dbSNP gnomAD v3 gnomAD v4
19g.41869070G>ACA406030042RPS19c.225G>A (p.Trp75Ter)
c.212G>A (p.Gly71Glu)
c.-11G>A (n.-11G>A)
c.1050G>A (n.1050G>A)
c.293G>A (p.Gly98Glu)
19g.41869070G>CCA406030043RPS19c.225G>C (p.Trp75Cys)
c.212G>C (p.Gly71Ala)
c.-11G>C (n.-11G>C)
c.1050G>C (n.1050G>C)
c.293G>C (p.Gly98Ala)
19g.41869070G>TCA406030046RPS19c.225G>T (p.Trp75Cys)
c.212G>T (p.Gly71Val)
c.-11G>T (n.-11G>T)
c.1050G>T (n.1050G>T)
c.293G>T (p.Gly98Val)
19g.41869071G>ACA406030049RPS19c.226G>A (p.Gly76Ser)
c.213G>A (p.Gly71=)
c.-10G>A (n.-10G>A)
c.1051G>A (n.1051G>A)
c.294G>A (p.Gly98=)
19g.41869071G>CCA406030051RPS19c.226G>C (p.Gly76Arg)
c.213G>C (p.Gly71=)
c.-10G>C (n.-10G>C)
c.1051G>C (n.1051G>C)
c.294G>C (p.Gly98=)
19g.41869071G>TCA406030053RPS19c.226G>T (p.Gly76Cys)
c.213G>T (p.Gly71=)
c.-10G>T (n.-10G>T)
c.1051G>T (n.1051G>T)
c.294G>T (p.Gly98=)
 ClinVar
19g.41869072G>ACA406030060RPS19c.227G>A (p.Gly76Asp)
c.214G>A (p.Val72Ile)
c.-9G>A (n.-9G>A)
c.1052G>A (n.1052G>A)
c.295G>A (p.Val99Ile)
 COSMIC
19g.41869072G>CCA406030056RPS19c.227G>C (p.Gly76Ala)
c.214G>C (p.Val72Leu)
c.-9G>C (n.-9G>C)
c.1052G>C (n.1052G>C)
c.295G>C (p.Val99Leu)
19g.41869072G=CA2336668859RPS19c.227G= (p.Gly76=)
c.214G= (p.Val72=)
c.-9G= (n.-9G=)
c.1052G= (n.1052G=)
c.295G= (p.Val99=)
19g.41869072G>TCA406030058RPS19c.227G>T (p.Gly76Val)
c.214G>T (p.Val72Phe)
c.-9G>T (n.-9G>T)
c.1052G>T (n.1052G>T)
c.295G>T (p.Val99Phe)
 ClinVar dbSNP
19g.41869073T>ACA406030062RPS19c.228T>A (p.Gly76=)
c.215T>A (p.Val72Asp)
c.-8T>A (n.-8T>A)
c.1053T>A (n.1053T>A)
c.296T>A (p.Val99Asp)
19g.41869073T>CCA406030064RPS19c.228T>C (p.Gly76=)
c.215T>C (p.Val72Ala)
c.-8T>C (n.-8T>C)
c.1053T>C (n.1053T>C)
c.296T>C (p.Val99Ala)
19g.41869073T>GCA406030066RPS19c.228T>G (p.Gly76=)
c.215T>G (p.Val72Gly)
c.-8T>G (n.-8T>G)
c.1053T>G (n.1053T>G)
c.296T>G (p.Val99Gly)
19g.41869074T>ACA406030068RPS19c.229T>A (p.Trp77Arg)
c.216T>A (p.Val72=)
c.-7T>A (n.-7T>A)
c.1054T>A (n.1054T>A)
c.297T>A (p.Val99=)
19g.41869074T>CCA406030070RPS19c.229T>C (p.Trp77Arg)
c.216T>C (p.Val72=)
c.-7T>C (n.-7T>C)
c.1054T>C (n.1054T>C)
c.297T>C (p.Val99=)
19g.41869074T>GCA406030072RPS19c.229T>G (p.Trp77Gly)
c.216T>G (p.Val72=)
c.-7T>G (n.-7T>G)
c.1054T>G (n.1054T>G)
c.297T>G (p.Val99=)
19g.41869075G>ACA406030075RPS19c.230G>A (p.Trp77Ter)
c.217G>A (p.Gly73Ser)
c.-6G>A (n.-6G>A)
c.1055G>A (n.1055G>A)
c.298G>A (p.Gly100Ser)
 gnomAD v4
19g.41869075G>CCA406030077RPS19c.230G>C (p.Trp77Ser)
c.217G>C (p.Gly73Arg)
c.-6G>C (n.-6G>C)
c.1055G>C (n.1055G>C)
c.298G>C (p.Gly100Arg)
19g.41869075G>TCA406030079RPS19c.230G>T (p.Trp77Leu)
c.217G>T (p.Gly73Cys)
c.-6G>T (n.-6G>T)
c.1055G>T (n.1055G>T)
c.298G>T (p.Gly100Cys)
19g.41869076G>ACA406030082RPS19c.231G>A (p.Trp77Ter)
c.218G>A (p.Gly73Asp)
c.-5G>A (n.-5G>A)
c.1056G>A (n.1056G>A)
c.299G>A (p.Gly100Asp)
 gnomAD v4
19g.41869076G>CCA406030083RPS19c.231G>C (p.Trp77Cys)
c.218G>C (p.Gly73Ala)
c.-5G>C (n.-5G>C)
c.1056G>C (n.1056G>C)
c.299G>C (p.Gly100Ala)
19g.41869076G=CA2336668860RPS19c.231G= (p.Trp77=)
c.218G= (p.Gly73=)
c.-5G= (n.-5G=)
c.1056G= (n.1056G=)
c.299G= (p.Gly100=)
19g.41869076G>TCA406030085RPS19c.231G>T (p.Trp77Cys)
c.218G>T (p.Gly73Val)
c.-5G>T (n.-5G>T)
c.1056G>T (n.1056G>T)
c.299G>T (p.Gly100Val)
 dbSNP gnomAD v4
19g.41869077C>ACA406030088RPS19c.232C>A (p.Leu78Ile)
c.219C>A (p.Gly73=)
c.-4C>A (n.-4C>A)
c.1057C>A (n.1057C>A)
c.300C>A (p.Gly100=)
19g.41869077C=CA2336668861RPS19c.232C= (p.Leu78=)
c.219C= (p.Gly73=)
c.-4C= (n.-4C=)
c.1057C= (n.1057C=)
c.300C= (p.Gly100=)
19g.41869077C>GCA406030090RPS19c.232C>G (p.Leu78Val)
c.219C>G (p.Gly73=)
c.-4C>G (n.-4C>G)
c.1057C>G (n.1057C>G)
c.300C>G (p.Gly100=)
19g.41869077C>TCA406030087RPS19c.232C>T (p.Leu78Phe)
c.219C>T (p.Gly73=)
c.-4C>T (n.-4C>T)
c.1057C>T (n.1057C>T)
c.300C>T (p.Gly100=)
 dbSNP
19g.41869078T>ACA406030092RPS19c.233T>A (p.Leu78His)
c.220T>A (p.Ser74Thr)
c.-3T>A (n.-3T>A)
c.1058T>A (n.1058T>A)
c.301T>A (p.Ser101Thr)
19g.41869078T>CCA406030094RPS19c.233T>C (p.Leu78Pro)
c.220T>C (p.Ser74Pro)
c.-3T>C (n.-3T>C)
c.1058T>C (n.1058T>C)
c.301T>C (p.Ser101Pro)
19g.41869078T>GCA406030096RPS19c.233T>G (p.Leu78Arg)
c.220T>G (p.Ser74Ala)
c.-3T>G (n.-3T>G)
c.1058T>G (n.1058T>G)
c.301T>G (p.Ser101Ala)
 gnomAD v4
19g.41869079C>ACA406030098RPS19c.234C>A (p.Leu78=)
c.221C>A (p.Ser74Tyr)
c.-2C>A (n.-2C>A)
c.1059C>A (n.1059C>A)
c.302C>A (p.Ser101Tyr)
19g.41869079C>GCA406030100RPS19c.234C>G (p.Leu78=)
c.221C>G (p.Ser74Cys)
c.-2C>G (n.-2C>G)
c.1059C>G (n.1059C>G)
c.302C>G (p.Ser101Cys)
19g.41869079C>TCA406030102RPS19c.234C>T (p.Leu78=)
c.221C>T (p.Ser74Phe)
c.-2C>T (n.-2C>T)
c.1059C>T (n.1059C>T)
c.302C>T (p.Ser101Phe)
19g.41869080delCA2695228813RPS19c.235del (p.His79MetfsTer?)
c.222del (p.Met75Ter)
c.-1del (n.-1del)
c.1060del (n.1060del)
c.303del (p.Met102Ter)
19g.41869080C>ACA406030108RPS19c.235C>A (p.His79Asn)
c.222C>A (p.Ser74=)
c.-1C>A (n.-1C>A)
c.1060C>A (n.1060C>A)
c.303C>A (p.Ser101=)
19g.41869080C>GCA406030104RPS19c.235C>G (p.His79Asp)
c.222C>G (p.Ser74=)
c.-1C>G (n.-1C>G)
c.1060C>G (n.1060C>G)
c.303C>G (p.Ser101=)
19g.41869080C>TCA406030107RPS19c.235C>T (p.His79Tyr)
c.222C>T (p.Ser74=)
c.-1C>T (n.-1C>T)
c.1060C>T (n.1060C>T)
c.303C>T (p.Ser101=)
19g.41869081A=CA2336668862RPS19c.236A= (p.His79=)
c.223A= (p.Met75=)
c.1A= (p.Met1=)
c.1061A= (n.1061A=)
c.304A= (p.Met102=)
19g.41869081A>CCA406030111RPS19c.236A>C (p.His79Pro)
c.223A>C (p.Met75Leu)
c.1A>C (p.Met1Leu)
c.1061A>C (n.1061A>C)
c.304A>C (p.Met102Leu)
 dbSNP gnomAD v2 gnomAD v4
19g.41869081A>GCA406030113RPS19c.236A>G (p.His79Arg)
c.223A>G (p.Met75Val)
c.1A>G (p.Met1Val)
c.1061A>G (n.1061A>G)
c.304A>G (p.Met102Val)
 gnomAD v4
19g.41869081A>TCA406030114RPS19c.236A>T (p.His79Leu)
c.223A>T (p.Met75Leu)
c.1A>T (p.Met1Leu)
c.1061A>T (n.1061A>T)
c.304A>T (p.Met102Leu)
19g.41869082T>ACA406030118RPS19c.237T>A (p.His79Gln)
c.224T>A (p.Met75Lys)
c.2T>A (p.Met1Lys)
c.1062T>A (n.1062T>A)
c.305T>A (p.Met102Lys)
19g.41869082T>CCA406030120RPS19c.237T>C (p.His79=)
c.224T>C (p.Met75Thr)
c.2T>C (p.Met1Thr)
c.1062T>C (n.1062T>C)
c.305T>C (p.Met102Thr)
 gnomAD v4
19g.41869082T>GCA406030121RPS19c.237T>G (p.His79Gln)
c.224T>G (p.Met75Arg)
c.2T>G (p.Met1Arg)
c.1062T>G (n.1062T>G)
c.305T>G (p.Met102Arg)
19g.41869083G>ACA406030123RPS19c.238G>A (p.Asp80Asn)
c.225G>A (p.Met75Ile)
c.3G>A (p.Met1Ile)
c.1063G>A (n.1063G>A)
c.306G>A (p.Met102Ile)
19g.41869083G>CCA406030127RPS19c.238G>C (p.Asp80His)
c.225G>C (p.Met75Ile)
c.3G>C (p.Met1Ile)
c.1063G>C (n.1063G>C)
c.306G>C (p.Met102Ile)
19g.41869083G>TCA406030126RPS19c.238G>T (p.Asp80Tyr)
c.225G>T (p.Met75Ile)
c.3G>T (p.Met1Ile)
c.1063G>T (n.1063G>T)
c.306G>T (p.Met102Ile)
 gnomAD v4
19g.41869084A=CA2336668863RPS19c.239A= (p.Asp80=)
c.226A= (p.Thr76=)
c.4A= (p.Thr2=)
c.1064A= (n.1064A=)
c.307A=
19g.41869084A>CCA406030130RPS19c.239A>C (p.Asp80Ala)
c.226A>C (p.Thr76Pro)
c.4A>C (p.Thr2Pro)
c.1064A>C (n.1064A>C)
c.307A>C
19g.41869084A>GCA9465350RPS19c.239A>G (p.Asp80Gly)
c.226A>G (p.Thr76Ala)
c.4A>G (p.Thr2Ala)
c.1064A>G (n.1064A>G)
c.307A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.41869084A>TCA406030133RPS19c.239A>T (p.Asp80Val)
c.226A>T (p.Thr76Ser)
c.4A>T (p.Thr2Ser)
c.1064A>T (n.1064A>T)
c.307A>T
19g.41869085C>ACA406030136RPS19c.240C>A (p.Asp80Glu)
c.227C>A (p.Thr76Asn)
c.5C>A (p.Thr2Asn)
c.1065C>A (n.1065C>A)
19g.41869085C=CA2336668864RPS19c.240C= (p.Asp80=)
c.227C= (p.Thr76=)
c.5C= (p.Thr2=)
c.1065C= (n.1065C=)
19g.41869085C>GCA406030138RPS19c.240C>G (p.Asp80Glu)
c.227C>G (p.Thr76Ser)
c.5C>G (p.Thr2Ser)
c.1065C>G (n.1065C>G)
 dbSNP
19g.41869085C>TCA406030140RPS19c.240C>T (p.Asp80=)
c.227C>T (p.Thr76Ile)
c.5C>T (p.Thr2Ile)
c.1065C>T (n.1065C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41869086C>ACA9465351RPS19c.241C>A (p.Gln81Lys)
c.228C>A (p.Thr76=)
c.6C>A (p.Thr2=)
c.1066C>A (n.1066C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41869086C=CA2336668865RPS19c.241C= (p.Gln81=)
c.228C= (p.Thr76=)
c.6C= (p.Thr2=)
c.1066C= (n.1066C=)
19g.41869086C>GCA406030144RPS19c.241C>G (p.Gln81Glu)
c.228C>G (p.Thr76=)
c.6C>G (p.Thr2=)
c.1066C>G (n.1066C>G)
19g.41869086C>TCA406030146RPS19c.241C>T (p.Gln81Ter)
c.228C>T (p.Thr76=)
c.6C>T (p.Thr2=)
c.1066C>T (n.1066C>T)
19g.41869087A=CA2336668866RPS19c.242A= (p.Gln81=)
c.229A= (p.Lys77=)
c.7A= (p.Lys3=)
c.1067A= (n.1067A=)
c.229A=
19g.41869087A>CCA406030148RPS19c.242A>C (p.Gln81Pro)
c.229A>C (p.Lys77Gln)
c.7A>C (p.Lys3Gln)
c.1067A>C (n.1067A>C)
c.229A>C
 dbSNP
19g.41869087A>GCA406030150RPS19c.242A>G (p.Gln81Arg)
c.229A>G (p.Lys77Glu)
c.7A>G (p.Lys3Glu)
c.1067A>G (n.1067A>G)
c.229A>G
19g.41869087A>TCA406030152RPS19c.242A>T (p.Gln81Leu)
c.229A>T (p.Lys77Ter)
c.7A>T (p.Lys3Ter)
c.1067A>T (n.1067A>T)
c.229A>T
19g.41869088A=CA2336668867RPS19c.243A= (p.Gln81=)
c.230A= (p.Lys77=)
c.8A= (p.Lys3=)
c.1068A= (n.1068A=)
19g.41869088A>CCA406030158RPS19c.243A>C (p.Gln81His)
c.230A>C (p.Lys77Thr)
c.8A>C (p.Lys3Thr)
c.1068A>C (n.1068A>C)
19g.41869088A>GCA406030155RPS19c.243A>G (p.Gln81=)
c.230A>G (p.Lys77Arg)
c.8A>G (p.Lys3Arg)
c.1068A>G (n.1068A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41869088A>TCA406030157RPS19c.243A>T (p.Gln81His)
c.230A>T (p.Lys77Met)
c.8A>T (p.Lys3Met)
c.1068A>T (n.1068A>T)
19g.41869091_41869108delCA2695228814RPS19c.246_263del (p.Asp82_Ser87del)
c.233_250del (p.Ile78_Gln83del)
c.11_28del (p.Ile4_Gln9del)
c.1071_1088del (n.1071_1088del)
19g.41869089G>ACA406030161RPS19c.244G>A (p.Asp82Asn)
c.231G>A (p.Lys77=)
c.9G>A (p.Lys3=)
c.1069G>A (n.1069G>A)
19g.41869089G>CCA308568140RPS19c.244G>C (p.Asp82His)
c.231G>C (p.Lys77Asn)
c.9G>C (p.Lys3Asn)
c.1069G>C (n.1069G>C)
 dbSNP gnomAD v3 gnomAD v4
19g.41869089G=CA2336668868RPS19c.244G= (p.Asp82=)
c.231G= (p.Lys77=)
c.9G= (p.Lys3=)
c.1069G= (n.1069G=)
19g.41869089G>TCA406030164RPS19c.244G>T (p.Asp82Tyr)
c.231G>T (p.Lys77Asn)
c.9G>T (p.Lys3Asn)
c.1069G>T (n.1069G>T)
19g.41869090A>CCA406030166RPS19c.245A>C (p.Asp82Ala)
c.232A>C (p.Ile78Leu)
c.10A>C (p.Ile4Leu)
c.1070A>C (n.1070A>C)
19g.41869090A>GCA406030168RPS19c.245A>G (p.Asp82Gly)
c.232A>G (p.Ile78Val)
c.10A>G (p.Ile4Val)
c.1070A>G (n.1070A>G)
19g.41869090A>TCA406030170RPS19c.245A>T (p.Asp82Val)
c.232A>T (p.Ile78Phe)
c.10A>T (p.Ile4Phe)
c.1070A>T (n.1070A>T)
19g.41869091T>ACA406030177RPS19c.246T>A (p.Asp82Glu)
c.233T>A (p.Ile78Asn)
c.11T>A (p.Ile4Asn)
c.1071T>A (n.1071T>A)
19g.41869091T>CCA406030173RPS19c.246T>C (p.Asp82=)
c.233T>C (p.Ile78Thr)
c.11T>C (p.Ile4Thr)
c.1071T>C (n.1071T>C)
19g.41869091T>GCA406030175RPS19c.246T>G (p.Asp82Glu)
c.233T>G (p.Ile78Ser)
c.11T>G (p.Ile4Ser)
c.1071T>G (n.1071T>G)
19g.41869092C>ACA406030179RPS19c.247C>A (p.Leu83Ile)
c.234C>A (p.Ile78=)
c.12C>A (p.Ile4=)
c.1072C>A (n.1072C>A)
19g.41869092C=CA2336668869RPS19c.247C= (p.Leu83=)
c.234C= (p.Ile78=)
c.12C= (p.Ile4=)
c.1072C= (n.1072C=)
19g.41869092C>GCA406030181RPS19c.247C>G (p.Leu83Val)
c.234C>G (p.Ile78Met)
c.12C>G (p.Ile4Met)
c.1072C>G (n.1072C>G)
 dbSNP gnomAD v2 gnomAD v4
19g.41869092C>TCA507576128RPS19c.247C>T (p.Leu83=)
c.234C>T (p.Ile78=)
c.12C>T (p.Ile4=)
c.1072C>T (n.1072C>T)
19g.41869093T>ACA406030183RPS19c.248T>A (p.Leu83Gln)
c.235T>A (p.Tyr79Asn)
c.13T>A (p.Tyr5Asn)
c.1073T>A (n.1073T>A)
19g.41869093T>CCA406030186RPS19c.248T>C (p.Leu83Pro)
c.235T>C (p.Tyr79His)
c.13T>C (p.Tyr5His)
c.1073T>C (n.1073T>C)
19g.41869093T>GCA406030188RPS19c.248T>G (p.Leu83Arg)
c.235T>G (p.Tyr79Asp)
c.13T>G (p.Tyr5Asp)
c.1073T>G (n.1073T>G)
19g.41869093dupCA308568148RPS19c.248dup (p.Trp84MetfsTer?)
c.235dup (p.Tyr79LeufsTer?)
c.13dup (p.Tyr5LeufsTer?)
c.1073dup (n.1073dup)
 dbSNP
19g.41869094A=CA2336668870RPS19c.249A= (p.Leu83=)
c.236A= (p.Tyr79=)
c.14A= (p.Tyr5=)
c.1074A= (n.1074A=)
19g.41869094A>CCA406030194RPS19c.249A>C (p.Leu83=)
c.236A>C (p.Tyr79Ser)
c.14A>C (p.Tyr5Ser)
c.1074A>C (n.1074A>C)
19g.41869094A>GCA9465352RPS19c.249A>G (p.Leu83=)
c.236A>G (p.Tyr79Cys)
c.14A>G (p.Tyr5Cys)
c.1074A>G (n.1074A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41869094A>TCA406030192RPS19c.249A>T (p.Leu83=)
c.236A>T (p.Tyr79Phe)
c.14A>T (p.Tyr5Phe)
c.1074A>T (n.1074A>T)
19g.41869095T>ACA406030197RPS19c.250T>A (p.Trp84Arg)
c.237T>A (p.Tyr79Ter)
c.15T>A (p.Tyr5Ter)
c.1075T>A (n.1075T>A)
19g.41869095T>CCA406030199RPS19c.250T>C (p.Trp84Arg)
c.237T>C (p.Tyr79=)
c.15T>C (p.Tyr5=)
c.1075T>C (n.1075T>C)
 dbSNP
19g.41869095T>GCA406030201RPS19c.250T>G (p.Trp84Gly)
c.237T>G (p.Tyr79Ter)
c.15T>G (p.Tyr5Ter)
c.1075T>G (n.1075T>G)
19g.41869095T=CA2336668871RPS19c.250T= (p.Trp84=)
c.237T= (p.Tyr79=)
c.15T= (p.Tyr5=)
c.1075T= (n.1075T=)
19g.41869096G>ACA406030204RPS19c.251G>A (p.Trp84Ter)
c.238G>A (p.Gly80Arg)
c.16G>A (p.Gly6Arg)
c.1076G>A (n.1076G>A)
19g.41869096G>CCA406030206RPS19c.251G>C (p.Trp84Ser)
c.238G>C (p.Gly80Arg)
c.16G>C (p.Gly6Arg)
c.1076G>C (n.1076G>C)
19g.41869096G>TCA406030208RPS19c.251G>T (p.Trp84Leu)
c.238G>T (p.Gly80Trp)
c.16G>T (p.Gly6Trp)
c.1076G>T (n.1076G>T)
19g.41869100dupCA2695228816RPS19c.255dup (p.Thr86AspfsTer?)
c.242dup (p.Arg82ThrfsTer?)
c.20dup (p.Arg8ThrfsTer?)
c.1080dup (n.1080dup)
c.255dup (p.Thr86AspfsTer30)
19g.41869100delCA2695228815RPS19c.255del (p.Thr86ArgfsTer?)
c.242del (p.Gly81AspfsTer30)
c.20del (p.Gly7AspfsTer30)
c.1080del (n.1080del)
19g.41869097G>ACA406030211RPS19c.252G>A (p.Trp84Ter)
c.239G>A (p.Gly80Glu)
c.17G>A (p.Gly6Glu)
c.1077G>A (n.1077G>A)
19g.41869097G>CCA406030213RPS19c.252G>C (p.Trp84Cys)
c.239G>C (p.Gly80Ala)
c.17G>C (p.Gly6Ala)
c.1077G>C (n.1077G>C)
19g.41869097G>TCA406030215RPS19c.252G>T (p.Trp84Cys)
c.239G>T (p.Gly80Val)
c.17G>T (p.Gly6Val)
c.1077G>T (n.1077G>T)
19g.41869098G>ACA9465353RPS19c.253G>A (p.Gly85Arg)
c.240G>A (p.Gly80=)
c.18G>A (p.Gly6=)
c.1078G>A (n.1078G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41869098G>CCA406030219RPS19c.253G>C (p.Gly85Arg)
c.240G>C (p.Gly80=)
c.18G>C (p.Gly6=)
c.1078G>C (n.1078G>C)
19g.41869098G=CA2336668872RPS19c.253G= (p.Gly85=)
c.240G= (p.Gly80=)
c.18G= (p.Gly6=)
c.1078G= (n.1078G=)
19g.41869098G>TCA406030220RPS19c.253G>T (p.Gly85Trp)
c.240G>T (p.Gly80=)
c.18G>T (p.Gly6=)
c.1078G>T (n.1078G>T)
19g.41869099G>ACA406030223RPS19c.254G>A (p.Gly85Glu)
c.241G>A (p.Gly81Arg)
c.19G>A (p.Gly7Arg)
c.1079G>A (n.1079G>A)
19g.41869099G>CCA406030226RPS19c.254G>C (p.Gly85Ala)
c.241G>C (p.Gly81Arg)
c.19G>C (p.Gly7Arg)
c.1079G>C (n.1079G>C)
19g.41869099G>TCA406030224RPS19c.254G>T (p.Gly85Val)
c.241G>T (p.Gly81Ter)
c.19G>T (p.Gly7Ter)
c.1079G>T (n.1079G>T)
19g.41869100G>ACA406030229RPS19c.255G>A (p.Gly85=)
c.242G>A (p.Gly81Glu)
c.20G>A (p.Gly7Glu)
c.1080G>A (n.1080G>A)
19g.41869100G>CCA406030230RPS19c.255G>C (p.Gly85=)
c.242G>C (p.Gly81Ala)
c.20G>C (p.Gly7Ala)
c.1080G>C (n.1080G>C)
19g.41869100G>TCA406030233RPS19c.255G>T (p.Gly85=)
c.242G>T (p.Gly81Val)
c.20G>T (p.Gly7Val)
c.1080G>T (n.1080G>T)
19g.41869101A=CA2336668873RPS19c.256A= (p.Thr86=)
c.243A= (p.Gly81=)
c.21A= (p.Gly7=)
c.1081A= (n.1081A=)
19g.41869101A>CCA406030235RPS19c.256A>C (p.Thr86Pro)
c.243A>C (p.Gly81=)
c.21A>C (p.Gly7=)
c.1081A>C (n.1081A>C)
19g.41869101A>GCA308568163RPS19c.256A>G (p.Thr86Ala)
c.243A>G (p.Gly81=)
c.21A>G (p.Gly7=)
c.1081A>G (n.1081A>G)
 dbSNP
19g.41869101A>TCA9465354RPS19c.256A>T (p.Thr86Ser)
c.243A>T (p.Gly81=)
c.21A>T (p.Gly7=)
c.1081A>T (n.1081A>T)
 dbSNP ExAC gnomAD v3 gnomAD v4
19g.41869101dupCA2695228817RPS19c.256dup (p.Thr86AsnfsTer?)
c.243dup (p.Arg82ThrfsTer?)
c.21dup (p.Arg8ThrfsTer?)
c.1081dup (n.1081dup)
c.256dup (p.Thr86AsnfsTer30)
19g.41869102C>ACA406030244RPS19c.257C>A (p.Thr86Lys)
c.244C>A (p.Arg82Ser)
c.22C>A (p.Arg8Ser)
c.1082C>A (n.1082C>A)
19g.41869102C=CA2336668874RPS19c.257C= (p.Thr86=)
c.244C= (p.Arg82=)
c.22C= (p.Arg8=)
c.1082C= (n.1082C=)
19g.41869102C>GCA406030242RPS19c.257C>G (p.Thr86Arg)
c.244C>G (p.Arg82Gly)
c.22C>G (p.Arg8Gly)
c.1082C>G (n.1082C>G)
19g.41869102C>TCA406030241RPS19c.257C>T (p.Thr86Met)
c.244C>T (p.Arg82Cys)
c.22C>T (p.Arg8Cys)
c.1082C>T (n.1082C>T)
 dbSNP gnomAD v2
19g.41869103G>ACA9465355RPS19c.258G>A (p.Thr86=)
c.245G>A (p.Arg82His)
c.23G>A (p.Arg8His)
c.1083G>A (n.1083G>A)
 ClinVar dbSNP ExAC gnomAD v4
19g.41869103G>CCA406030247RPS19c.258G>C (p.Thr86=)
c.245G>C (p.Arg82Pro)
c.23G>C (p.Arg8Pro)
c.1083G>C (n.1083G>C)
 dbSNP gnomAD v3 gnomAD v4
19g.41869103G=CA2336668875RPS19c.258G= (p.Thr86=)
c.245G= (p.Arg82=)
c.23G= (p.Arg8=)
c.1083G= (n.1083G=)
19g.41869103G>TCA406030249RPS19c.258G>T (p.Thr86=)
c.245G>T (p.Arg82Leu)
c.23G>T (p.Arg8Leu)
c.1083G>T (n.1083G>T)
 ClinVar
19g.41869104T>ACA406030250RPS19c.259T>A (p.Ser87Thr)
c.246T>A (p.Arg82=)
c.24T>A (p.Arg8=)
c.1084T>A (n.1084T>A)
19g.41869104T>CCA406030252RPS19c.259T>C (p.Ser87Pro)
c.246T>C (p.Arg82=)
c.24T>C (p.Arg8=)
c.1084T>C (n.1084T>C)
19g.41869104T>GCA406030254RPS19c.259T>G (p.Ser87Ala)
c.246T>G (p.Arg82=)
c.24T>G (p.Arg8=)
c.1084T>G (n.1084T>G)
 dbSNP gnomAD v3 gnomAD v4
19g.41869104T=CA2336668876RPS19c.259T= (p.Ser87=)
c.246T= (p.Arg82=)
c.24T= (p.Arg8=)
c.1084T= (n.1084T=)
19g.41869105C>ACA406030256RPS19c.260C>A (p.Ser87Ter)
c.247C>A (p.Gln83Lys)
c.25C>A (p.Gln9Lys)
c.1085C>A (n.1085C>A)
19g.41869105C>GCA406030260RPS19c.260C>G (p.Ser87Ter)
c.247C>G (p.Gln83Glu)
c.25C>G (p.Gln9Glu)
c.1085C>G (n.1085C>G)
19g.41869105C>TCA406030258RPS19c.260C>T (p.Ser87Leu)
c.247C>T (p.Gln83Ter)
c.25C>T (p.Gln9Ter)
c.1085C>T (n.1085C>T)
19g.41869106A>CCA406030261RPS19c.261A>C (p.Ser87=)
c.248A>C (p.Gln83Pro)
c.26A>C (p.Gln9Pro)
c.1086A>C (n.1086A>C)
19g.41869106A>GCA406030263RPS19c.261A>G (p.Ser87=)
c.248A>G (p.Gln83Arg)
c.26A>G (p.Gln9Arg)
c.1086A>G (n.1086A>G)
 gnomAD v4
19g.41869106A>TCA406030264RPS19c.261A>T (p.Ser87=)
c.248A>T (p.Gln83Leu)
c.26A>T (p.Gln9Leu)
c.1086A>T (n.1086A>T)
19g.41869106dupCA2695228819RPS19c.261dup (p.Glu88ArgfsTer?)
c.248dup (p.Arg84GlufsTer?)
c.26dup (p.Arg10GlufsTer?)
c.1086dup (n.1086dup)
c.261dup (p.Glu88ArgfsTer28)
19g.41869109_41869110delCA2695228818RPS19c.264_265del (p.Lys89ThrfsTer?)
c.251_252del (p.Arg84LysfsTer?)
c.29_30del (p.Arg10LysfsTer?)
c.1089_1090del (n.1089_1090del)
c.264_265del (p.Lys89ThrfsTer26)
19g.41869107G>ACA406030265RPS19c.262G>A (p.Glu88Lys)
c.249G>A (p.Gln83=)
c.27G>A (p.Gln9=)
c.1087G>A (n.1087G>A)
 dbSNP
19g.41869107G>CCA406030266RPS19c.262G>C (p.Glu88Gln)
c.249G>C (p.Gln83His)
c.27G>C (p.Gln9His)
c.1087G>C (n.1087G>C)
19g.41869107G=CA2336668877RPS19c.262G= (p.Glu88=)
c.249G= (p.Gln83=)
c.27G= (p.Gln9=)
c.1087G= (n.1087G=)
19g.41869107G>TCA406030268RPS19c.262G>T (p.Glu88Ter)
c.249G>T (p.Gln83His)
c.27G>T (p.Gln9His)
c.1087G>T (n.1087G>T)
19g.41869108A=CA2336668878RPS19c.263A= (p.Glu88=)
c.250A= (p.Arg84=)
c.28A= (p.Arg10=)
c.1088A= (n.1088A=)
19g.41869108A>CCA406030270RPS19c.263A>C (p.Glu88Ala)
c.250A>C (p.Arg84=)
c.28A>C (p.Arg10=)
c.1088A>C (n.1088A>C)
19g.41869108A>GCA406030272RPS19c.263A>G (p.Glu88Gly)
c.250A>G (p.Arg84Gly)
c.28A>G (p.Arg10Gly)
c.1088A>G (n.1088A>G)
 gnomAD v4
19g.41869108A>TCA130766RPS19c.263A>T (p.Glu88Val)
c.250A>T (p.Arg84Ter)
c.28A>T (p.Arg10Ter)
c.1088A>T (n.1088A>T)
 ClinVar dbSNP
19g.41869108dupCA2695228820RPS19c.263dup (p.Lys89GlufsTer?)
c.250dup (p.Arg84LysfsTer?)
c.28dup (p.Arg10LysfsTer?)
c.1088dup (n.1088dup)
c.263dup (p.Lys89GlufsTer27)
19g.41869109delCA2695228821RPS19c.264del (p.Lys89AsnfsTer?)
c.251del (p.Arg84LysfsTer27)
c.29del (p.Arg10LysfsTer27)
c.1089del (n.1089del)
19g.41869109G>ACA406030274RPS19c.264G>A (p.Glu88=)
c.251G>A (p.Arg84Lys)
c.29G>A (p.Arg10Lys)
c.1089G>A (n.1089G>A)
19g.41869109G>CCA406030275RPS19c.264G>C (p.Glu88Asp)
c.251G>C (p.Arg84Thr)
c.29G>C (p.Arg10Thr)
c.1089G>C (n.1089G>C)
19g.41869109G>TCA406030278RPS19c.264G>T (p.Glu88Asp)
c.251G>T (p.Arg84Ile)
c.29G>T (p.Arg10Ile)
c.1089G>T (n.1089G>T)
19g.41869110A=CA2336668879RPS19c.265A= (p.Lys89=)
c.252A= (p.Arg84=)
c.30A= (p.Arg10=)
c.1090A= (n.1090A=)
19g.41869110A>CCA406030280RPS19c.265A>C (p.Lys89Gln)
c.252A>C (p.Arg84Ser)
c.30A>C (p.Arg10Ser)
c.1090A>C (n.1090A>C)
19g.41869110A>GCA406030284RPS19c.265A>G (p.Lys89Glu)
c.252A>G (p.Arg84=)
c.30A>G (p.Arg10=)
c.1090A>G (n.1090A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41869110A>TCA406030282RPS19c.265A>T (p.Lys89Ter)
c.252A>T (p.Arg84Ser)
c.30A>T (p.Arg10Ser)
c.1090A>T (n.1090A>T)
19g.41869111A>CCA406030286RPS19c.266A>C (p.Lys89Thr)
c.253A>C (p.Asn85His)
c.31A>C (p.Asn11His)
c.1091A>C (n.1091A>C)
19g.41869111A>GCA406030288RPS19c.266A>G (p.Lys89Arg)
c.253A>G (p.Asn85Asp)
c.31A>G (p.Asn11Asp)
c.1091A>G (n.1091A>G)
19g.41869111A>TCA406030290RPS19c.266A>T (p.Lys89Ile)
c.253A>T (p.Asn85Tyr)
c.31A>T (p.Asn11Tyr)
c.1091A>T (n.1091A>T)
19g.41869112A=CA2336668880RPS19c.267A= (p.Lys89=)
c.254A= (p.Asn85=)
c.32A= (p.Asn11=)
c.1092A= (n.1092A=)
19g.41869112A>CCA406030293RPS19c.267A>C (p.Lys89Asn)
c.254A>C (p.Asn85Thr)
c.32A>C (p.Asn11Thr)
c.1092A>C (n.1092A>C)
 dbSNP
19g.41869112A>GCA406030296RPS19c.267A>G (p.Lys89=)
c.254A>G (p.Asn85Ser)
c.32A>G (p.Asn11Ser)
c.1092A>G (n.1092A>G)
19g.41869112A>TCA406030297RPS19c.267A>T (p.Lys89Asn)
c.254A>T (p.Asn85Ile)
c.32A>T (p.Asn11Ile)
c.1092A>T (n.1092A>T)
19g.41869113C>ACA406030300RPS19c.268C>A (p.Arg90=)
c.255C>A (p.Asn85Lys)
c.33C>A (p.Asn11Lys)
c.1093C>A (n.1093C>A)
19g.41869113C=CA2336668881RPS19c.268C= (p.Arg90=)
c.255C= (p.Asn85=)
c.33C= (p.Asn11=)
c.1093C= (n.1093C=)
19g.41869113C>GCA406030302RPS19c.268C>G (p.Arg90Gly)
c.255C>G (p.Asn85Lys)
c.33C>G (p.Asn11Lys)
c.1093C>G (n.1093C>G)
19g.41869113C>TCA9465356RPS19c.268C>T (p.Arg90Trp)
c.255C>T (p.Asn85=)
c.33C>T (p.Asn11=)
c.1093C>T (n.1093C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41869114G>ACA406030305RPS19c.269G>A (p.Arg90Gln)
c.256G>A (p.Gly86Ser)
c.34G>A (p.Gly12Ser)
c.1094G>A (n.1094G>A)
 dbSNP gnomAD v3 gnomAD v4
19g.41869114G>CCA406030307RPS19c.269G>C (p.Arg90Pro)
c.256G>C (p.Gly86Arg)
c.34G>C (p.Gly12Arg)
c.1094G>C (n.1094G>C)
19g.41869114G=CA2336668882RPS19c.269G= (p.Arg90=)
c.256G= (p.Gly86=)
c.34G= (p.Gly12=)
c.1094G= (n.1094G=)
19g.41869114G>TCA406030309RPS19c.269G>T (p.Arg90Leu)
c.256G>T (p.Gly86Cys)
c.34G>T (p.Gly12Cys)
c.1094G>T (n.1094G>T)
19g.41869115dupCA1139666469RPS19c.270dup (p.Arg91AlafsTer?)
c.257dup (p.Val87ArgfsTer?)
c.35dup (p.Val13ArgfsTer?)
c.1095dup (n.1095dup)
c.270dup (p.Arg91AlafsTer25)
 ClinVar dbSNP
19g.41869115G>ACA406030316RPS19c.270G>A (p.Arg90=)
c.257G>A (p.Gly86Asp)
c.35G>A (p.Gly12Asp)
c.1095G>A (n.1095G>A)
19g.41869115G>CCA406030312RPS19c.270G>C (p.Arg90=)
c.257G>C (p.Gly86Ala)
c.35G>C (p.Gly12Ala)
c.1095G>C (n.1095G>C)
19g.41869115G>TCA406030314RPS19c.270G>T (p.Arg90=)
c.257G>T (p.Gly86Val)
c.35G>T (p.Gly12Val)
c.1095G>T (n.1095G>T)
19g.41869115_41869116insACA2695228822RPS19c.270_271insA (p.Arg91ThrfsTer?)
c.257_258insA (p.Val87ArgfsTer?)
c.35_36insA (p.Val13ArgfsTer?)
c.1095_1096insA (n.1095_1096insA)
c.270_271insA (p.Arg91ThrfsTer25)
19g.41869116C>ACA406030318RPS19c.271C>A (p.Arg91Ser)
c.258C>A (p.Gly86=)
c.36C>A (p.Gly12=)
c.1096C>A (n.1096C>A)
19g.41869116C=CA2336668883RPS19c.271C= (p.Arg91=)
c.258C= (p.Gly86=)
c.36C= (p.Gly12=)
c.1096C= (n.1096C=)
19g.41869116C>GCA406030320RPS19c.271C>G (p.Arg91Gly)
c.258C>G (p.Gly86=)
c.36C>G (p.Gly12=)
c.1096C>G (n.1096C>G)
19g.41869116C>TCA9465357RPS19c.271C>T (p.Arg91Cys)
c.258C>T (p.Gly86=)
c.36C>T (p.Gly12=)
c.1096C>T (n.1096C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41869117G>ACA9465358RPS19c.272G>A (p.Arg91His)
c.259G>A (p.Val87Ile)
c.37G>A (p.Val13Ile)
c.1097G>A (n.1097G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41869117G>CCA406030328RPS19c.272G>C (p.Arg91Pro)
c.259G>C (p.Val87Leu)
c.37G>C (p.Val13Leu)
c.1097G>C (n.1097G>C)
19g.41869117G=CA2336668884RPS19c.272G= (p.Arg91=)
c.259G= (p.Val87=)
c.37G= (p.Val13=)
c.1097G= (n.1097G=)
19g.41869117G>TCA406030331RPS19c.272G>T (p.Arg91Leu)
c.259G>T (p.Val87Phe)
c.37G>T (p.Val13Phe)
c.1097G>T (n.1097G>T)
19g.41869118T>ACA406030334RPS19c.273T>A (p.Arg91=)
c.260T>A (p.Val87Asp)
c.38T>A (p.Val13Asp)
c.1098T>A (n.1098T>A)
19g.41869118T>CCA406030335RPS19c.273T>C (p.Arg91=)
c.260T>C (p.Val87Ala)
c.38T>C (p.Val13Ala)
c.1098T>C (n.1098T>C)
19g.41869118T>GCA406030337RPS19c.273T>G (p.Arg91=)
c.260T>G (p.Val87Gly)
c.38T>G (p.Val13Gly)
c.1098T>G (n.1098T>G)
19g.41869119C>ACA406030340RPS19c.274C>A (p.His92Asn)
c.261C>A (p.Val87=)
c.39C>A (p.Val13=)
c.1099C>A (n.1099C>A)
19g.41869119C>GCA406030341RPS19c.274C>G (p.His92Asp)
c.261C>G (p.Val87=)
c.39C>G (p.Val13=)
c.1099C>G (n.1099C>G)
19g.41869119C>TCA406030344RPS19c.274C>T (p.His92Tyr)
c.261C>T (p.Val87=)
c.39C>T (p.Val13=)
c.1099C>T (n.1099C>T)
19g.41869120A>CCA406030348RPS19c.275A>C (p.His92Pro)
c.262A>C (p.Met88Leu)
c.40A>C (p.Met14Leu)
c.1100A>C (n.1100A>C)
19g.41869120A>GCA406030350RPS19c.275A>G (p.His92Arg)
c.262A>G (p.Met88Val)
c.40A>G (p.Met14Val)
c.1100A>G (n.1100A>G)
19g.41869120A>TCA406030346RPS19c.275A>T (p.His92Leu)
c.262A>T (p.Met88Leu)
c.40A>T (p.Met14Leu)
c.1100A>T (n.1100A>T)
19g.41869121T>ACA406030352RPS19c.276T>A (p.His92Gln)
c.263T>A (p.Met88Lys)
c.41T>A (p.Met14Lys)
c.1101T>A (n.1101T>A)
19g.41869121T>CCA406030351RPS19c.276T>C (p.His92=)
c.263T>C (p.Met88Thr)
c.41T>C (p.Met14Thr)
c.1101T>C (n.1101T>C)
19g.41869121T>GCA406030355RPS19c.276T>G (p.His92Gln)
c.263T>G (p.Met88Arg)
c.41T>G (p.Met14Arg)
c.1101T>G (n.1101T>G)
 dbSNP gnomAD v3 gnomAD v4
19g.41869121T=CA2336668885RPS19c.276T= (p.His92=)
c.263T= (p.Met88=)
c.41T= (p.Met14=)
c.1101T= (n.1101T=)
19g.41869122G>ACA406030358RPS19c.277G>A (p.Ala93Thr)
c.264G>A (p.Met88Ile)
c.42G>A (p.Met14Ile)
c.1102G>A (n.1102G>A)
 dbSNP gnomAD v3 gnomAD v4
19g.41869122G>CCA9465359RPS19c.277G>C (p.Ala93Pro)
c.264G>C (p.Met88Ile)
c.42G>C (p.Met14Ile)
c.1102G>C (n.1102G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41869122G=CA2336668886RPS19c.277G= (p.Ala93=)
c.264G= (p.Met88=)
c.42G= (p.Met14=)
c.1102G= (n.1102G=)
19g.41869122G>TCA406030360RPS19c.277G>T (p.Ala93Ser)
c.264G>T (p.Met88Ile)
c.42G>T (p.Met14Ile)
c.1102G>T (n.1102G>T)
19g.41869125_41869129delCA1139770402RPS19c.280_284del (p.Gln94ThrfsTer?)
c.267_271del (p.Ser90LeufsTer?)
c.45_49del (p.Ser16LeufsTer?)
c.1105_1109del (n.1105_1109del)
c.280_284del (p.Gln94ThrfsTer20)
19g.41869123C>ACA406030363RPS19c.278C>A (p.Ala93Asp)
c.265C>A (p.Pro89Thr)
c.43C>A (p.Pro15Thr)
c.1103C>A (n.1103C>A)
19g.41869123C>GCA406030367RPS19c.278C>G (p.Ala93Gly)
c.265C>G (p.Pro89Ala)
c.43C>G (p.Pro15Ala)
c.1103C>G (n.1103C>G)
 gnomAD v4
19g.41869123C>TCA406030365RPS19c.278C>T (p.Ala93Val)
c.265C>T (p.Pro89Ser)
c.43C>T (p.Pro15Ser)
c.1103C>T (n.1103C>T)
19g.41869124C>ACA406030370RPS19c.279C>A (p.Ala93=)
c.266C>A (p.Pro89His)
c.44C>A (p.Pro15His)
c.1104C>A (n.1104C>A)
19g.41869124C>GCA406030372RPS19c.279C>G (p.Ala93=)
c.266C>G (p.Pro89Arg)
c.44C>G (p.Pro15Arg)
c.1104C>G (n.1104C>G)
 ClinVar
19g.41869124C>TCA406030374RPS19c.279C>T (p.Ala93=)
c.266C>T (p.Pro89Leu)
c.44C>T (p.Pro15Leu)
c.1104C>T (n.1104C>T)
19g.41869125C>ACA406030377RPS19c.280C>A (p.Gln94Lys)
c.267C>A (p.Pro89=)
c.45C>A (p.Pro15=)
c.1105C>A (n.1105C>A)
19g.41869125C>GCA406030379RPS19c.280C>G (p.Gln94Glu)
c.267C>G (p.Pro89=)
c.45C>G (p.Pro15=)
c.1105C>G (n.1105C>G)
19g.41869125C>TCA406030381RPS19c.280C>T (p.Gln94Ter)
c.267C>T (p.Pro89=)
c.45C>T (p.Pro15=)
c.1105C>T (n.1105C>T)
19g.41869126A>CCA406030384RPS19c.281A>C (p.Gln94Pro)
c.268A>C (p.Ser90Arg)
c.46A>C (p.Ser16Arg)
c.1106A>C (n.1106A>C)
19g.41869126A>GCA406030385RPS19c.281A>G (p.Gln94Arg)
c.268A>G (p.Ser90Gly)
c.46A>G (p.Ser16Gly)
c.1106A>G (n.1106A>G)
19g.41869126A>TCA406030387RPS19c.281A>T (p.Gln94Leu)
c.268A>T (p.Ser90Cys)
c.46A>T (p.Ser16Cys)
c.1106A>T (n.1106A>T)
19g.41869127G>ACA406030390RPS19c.282G>A (p.Gln94=)
c.269G>A (p.Ser90Asn)
c.47G>A (p.Ser16Asn)
c.1107G>A (n.1107G>A)
19g.41869127G>CCA406030393RPS19c.282G>C (p.Gln94His)
c.269G>C (p.Ser90Thr)
c.47G>C (p.Ser16Thr)
c.1107G>C (n.1107G>C)
19g.41869127G>TCA406030394RPS19c.282G>T (p.Gln94His)
c.269G>T (p.Ser90Ile)
c.47G>T (p.Ser16Ile)
c.1107G>T (n.1107G>T)
19g.41869128C>ACA406030398RPS19c.283C>A (p.Pro95Thr)
c.270C>A (p.Ser90Arg)
c.48C>A (p.Ser16Arg)
c.1108C>A (n.1108C>A)
19g.41869128C>GCA406030402RPS19c.283C>G (p.Pro95Ala)
c.270C>G (p.Ser90Arg)
c.48C>G (p.Ser16Arg)
c.1108C>G (n.1108C>G)
19g.41869128C>TCA406030399RPS19c.283C>T (p.Pro95Ser)
c.270C>T (p.Ser90=)
c.48C>T (p.Ser16=)
c.1108C>T (n.1108C>T)
19g.41869129C>ACA406030404RPS19c.284C>A (p.Pro95Gln)
c.271C>A (p.His91Asn)
c.49C>A (p.His17Asn)
c.1109C>A (n.1109C>A)
19g.41869129C=CA2336668887RPS19c.284C= (p.Pro95=)
c.271C= (p.His91=)
c.49C= (p.His17=)
c.1109C= (n.1109C=)
19g.41869129C>GCA406030407RPS19c.284C>G (p.Pro95Arg)
c.271C>G (p.His91Asp)
c.49C>G (p.His17Asp)
c.1109C>G (n.1109C>G)
19g.41869129C>TCA406030409RPS19c.284C>T (p.Pro95Leu)
c.271C>T (p.His91Tyr)
c.49C>T (p.His17Tyr)
c.1109C>T (n.1109C>T)
 dbSNP gnomAD v2 gnomAD v4
19g.41869130A>CCA406030411RPS19c.285A>C (p.Pro95=)
c.272A>C (p.His91Pro)
c.50A>C (p.His17Pro)
c.1110A>C (n.1110A>C)
19g.41869130A>GCA406030414RPS19c.285A>G (p.Pro95=)
c.272A>G (p.His91Arg)
c.50A>G (p.His17Arg)
c.1110A>G (n.1110A>G)
 gnomAD v4
19g.41869130A>TCA406030415RPS19c.285A>T (p.Pro95=)
c.272A>T (p.His91Leu)
c.50A>T (p.His17Leu)
c.1110A>T (n.1110A>T)
19g.41869131C>ACA406030418RPS19c.286C>A (p.Leu96Ile)
c.273C>A (p.His91Gln)
c.51C>A (p.His17Gln)
c.1111C>A (n.1111C>A)
19g.41869131C=CA2336668888RPS19c.286C= (p.Leu96=)
c.273C= (p.His91=)
c.51C= (p.His17=)
c.1111C= (n.1111C=)
19g.41869131C>GCA406030420RPS19c.286C>G (p.Leu96Val)
c.273C>G (p.His91Gln)
c.51C>G (p.His17Gln)
c.1111C>G (n.1111C>G)
19g.41869131C>TCA308568184RPS19c.286C>T (p.Leu96Phe)
c.273C>T (p.His91=)
c.51C>T (p.His17=)
c.1111C>T (n.1111C>T)
 dbSNP gnomAD v3 gnomAD v4
19g.41869132_41869162delCA2695228823RPS19c.274_304del (p.Phe92GlyfsTer9)
c.52_82del (p.Phe18GlyfsTer9)
c.1112_1142del (n.1112_1142del)
c.287_317del (p.Leu96ArgfsTer?)
19g.41869132T>ACA406030428RPS19c.287T>A (p.Leu96His)
c.274T>A (p.Phe92Ile)
c.52T>A (p.Phe18Ile)
c.1112T>A (n.1112T>A)
19g.41869132T>CCA406030426RPS19c.287T>C (p.Leu96Pro)
c.274T>C (p.Phe92Leu)
c.52T>C (p.Phe18Leu)
c.1112T>C (n.1112T>C)
19g.41869132T>GCA406030424RPS19c.287T>G (p.Leu96Arg)
c.274T>G (p.Phe92Val)
c.52T>G (p.Phe18Val)
c.1112T>G (n.1112T>G)
19g.41869133delCA2695228824RPS19c.288del (p.Gln97SerfsTer?)
c.275del (p.Phe92SerfsTer19)
c.53del (p.Phe18SerfsTer19)
c.1113del (n.1113del)

Number of alleles fetched