Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.41869033T>A | CA406029808 | RPS19 | c.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) | |
19 | g.41869033T>C | CA406029809 | RPS19 | c.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) | |
19 | g.41869033T>G | CA406029810 | RPS19 | c.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) | |
19 | g.41869033_41869034delinsCT | CA915951693 | RPS19 | c.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 |
19 | g.41869033_41869034delinsTC | CA2336668840 | RPS19 | c.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=) | |
19 | g.41869034C>A | CA406029813 | RPS19 | c.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) | |
19 | g.41869034C>G | CA406029815 | RPS19 | c.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) | |
19 | g.41869034C>T | CA406029817 | RPS19 | c.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 |
19 | g.41869035C>A | CA406029827 | RPS19 | c.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=) | |
19 | g.41869035C>G | CA406029824 | RPS19 | c.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=) | |
19 | g.41869035C>T | CA406029823 | RPS19 | c.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=) | |
19 | g.41869036A= | CA2336668841 | RPS19 | c.191A= (p.His64=) c.178A= (p.Thr60=) c.-45A= (n.-45A=) c.1016A= (n.1016A=) c.259A= (p.Thr87=) | |
19 | g.41869036A>C | CA406029829 | RPS19 | c.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 |
19 | g.41869036A>G | CA9465341 | RPS19 | c.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 |
19 | g.41869036A>T | CA406029832 | RPS19 | c.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) | |
19 | g.41869037C>A | CA406029836 | RPS19 | c.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) | |
19 | g.41869037C= | CA2336668842 | RPS19 | c.192C= (p.His64=) c.179C= (p.Thr60=) c.-44C= (n.-44C=) c.1017C= (n.1017C=) c.260C= (p.Thr87=) | |
19 | g.41869037C>G | CA406029838 | RPS19 | c.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) | |
19 | g.41869037C>T | CA9465342 | RPS19 | c.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 |
19 | g.41869038A>C | CA406029842 | RPS19 | c.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=) | |
19 | g.41869038A>G | CA406029844 | RPS19 | c.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=) | |
19 | g.41869038A>T | CA406029845 | RPS19 | c.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=) | |
19 | g.41869039G>A | CA406029852 | RPS19 | c.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) | |
19 | g.41869039G>C | CA406029850 | RPS19 | c.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) | |
19 | g.41869039G>T | CA406029848 | RPS19 | c.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) | |
19 | g.41869040C>A | CA406029855 | RPS19 | c.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) | |
19 | g.41869040C= | CA2336668843 | RPS19 | c.195C= (p.Ser65=) c.182C= (p.Ala61=) c.-41C= (n.-41C=) c.1020C= (n.1020C=) c.263C= (p.Ala88=) | |
19 | g.41869040C>G | CA406029857 | RPS19 | c.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) | |
19 | g.41869040C>T | CA308568058 | RPS19 | c.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 |
19 | g.41869041G>A | CA9465343 | RPS19 | c.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 |
19 | g.41869041G>C | CA406029862 | RPS19 | c.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 |
19 | g.41869041G= | CA2336668844 | RPS19 | c.196G= (p.Ala66=) c.183G= (p.Ala61=) c.-40G= (n.-40G=) c.1021G= (n.1021G=) c.264G= (p.Ala88=) | |
19 | g.41869041G>T | CA406029864 | RPS19 | c.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=) | |
19 | g.41869042C>A | CA406029867 | RPS19 | c.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 |
19 | g.41869042C= | CA2336668845 | RPS19 | c.197C= (p.Ala66=) c.184C= (p.Arg62=) c.-39C= (n.-39C=) c.1022C= (n.1022C=) c.265C= (p.Arg89=) | |
19 | g.41869042C>G | CA406029869 | RPS19 | c.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) | |
19 | g.41869042C>T | CA130763 | RPS19 | c.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 |
19 | g.41869043G>A | CA406029872 | RPS19 | c.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 |
19 | g.41869043G>C | CA406029874 | RPS19 | c.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 |
19 | g.41869043G= | CA2336668846 | RPS19 | c.198G= (p.Ala66=) c.185G= (p.Arg62=) c.-38G= (n.-38G=) c.1023G= (n.1023G=) c.266G= (p.Arg89=) | |
19 | g.41869043G>T | CA406029876 | RPS19 | c.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) | |
19 | g.41869044G>A | CA406029879 | RPS19 | c.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 |
19 | g.41869044G>C | CA406029880 | RPS19 | c.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=) | |
19 | g.41869044G>T | CA406029882 | RPS19 | c.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=) | |
19 | g.41869044_41869045del | CA2740097975 | RPS19 | c.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 |
19 | g.41869045C>A | CA406029885 | RPS19 | c.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) | |
19 | g.41869045C>G | CA406029886 | RPS19 | c.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) | |
19 | g.41869045C>T | CA406029888 | RPS19 | c.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) | |
19 | g.41869046_41869048dup | CA2695228809 | RPS19 | c.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) | |
19 | g.41869046A>C | CA406029890 | RPS19 | c.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 |
19 | g.41869046A>G | CA406029893 | RPS19 | c.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) | |
19 | g.41869046A>T | CA406029895 | RPS19 | c.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) | |
19 | g.41869047C>A | CA406029897 | RPS19 | c.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) | |
19 | g.41869047C= | CA2336668847 | RPS19 | c.202C= (p.Pro68=) c.189C= (p.His63=) c.-34C= (n.-34C=) c.1027C= (n.1027C=) c.270C= (p.His90=) | |
19 | g.41869047C>G | CA9465344 | RPS19 | c.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 |
19 | g.41869047C>T | CA406029899 | RPS19 | c.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 |
19 | g.41869048C>A | CA406029902 | RPS19 | c.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) | |
19 | g.41869048C= | CA2336668848 | RPS19 | c.203C= (p.Pro68=) c.190C= (p.Leu64=) c.-33C= (n.-33C=) c.1028C= (n.1028C=) c.271C= (p.Leu91=) | |
19 | g.41869048C>G | CA406029904 | RPS19 | c.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 |
19 | g.41869048C>T | CA406029906 | RPS19 | c.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 |
19 | g.41869049T>A | CA406029909 | RPS19 | c.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) | |
19 | g.41869049T>C | CA406029911 | RPS19 | c.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 |
19 | g.41869049T>G | CA406029914 | RPS19 | c.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) | |
19 | g.41869049T= | CA2336668849 | RPS19 | c.204T= (p.Pro68=) c.191T= (p.Leu64=) c.-32T= (n.-32T=) c.1029T= (n.1029T=) c.272T= (p.Leu91=) | |
19 | g.41869050G>A | CA9465346 | RPS19 | c.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 |
19 | g.41869050G>C | CA9465345 | RPS19 | c.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 |
19 | g.41869050G= | CA2336668850 | RPS19 | c.205G= (p.Val69=) c.192G= (p.Leu64=) c.-31G= (n.-31G=) c.1030G= (n.1030G=) c.273G= (p.Leu91=) | |
19 | g.41869050G>T | CA406029917 | RPS19 | c.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 |
19 | g.41869051T>A | CA406029919 | RPS19 | c.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) | |
19 | g.41869051T>C | CA406029921 | RPS19 | c.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) | |
19 | g.41869051T>G | CA406029923 | RPS19 | c.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) | |
19 | g.41869052A>C | CA406029929 | RPS19 | c.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) | |
19 | g.41869052A>G | CA406029928 | RPS19 | c.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) | |
19 | g.41869052A>T | CA406029925 | RPS19 | c.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) | |
19 | g.41869053C>A | CA406029932 | RPS19 | c.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) | |
19 | g.41869053C>G | CA406029933 | RPS19 | c.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) | |
19 | g.41869053C>T | CA406029935 | RPS19 | c.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 |
19 | g.41869054C>A | CA406029938 | RPS19 | c.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) | |
19 | g.41869054C>G | CA406029940 | RPS19 | c.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) | |
19 | g.41869054C>T | CA406029942 | RPS19 | c.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 |
19 | g.41869055_41869065del | CA2695228810 | RPS19 | c.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?) | |
19 | g.41869055T>A | CA406029945 | RPS19 | c.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) | |
19 | g.41869055T>C | CA406029947 | RPS19 | c.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) | |
19 | g.41869055T>G | CA406029948 | RPS19 | c.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) | |
19 | g.41869056C>A | CA406029952 | RPS19 | c.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=) | |
19 | g.41869056C= | CA2336668851 | RPS19 | c.211C= (p.Pro71=) c.198C= (p.Leu66=) c.-25C= (n.-25C=) c.1036C= (n.1036C=) c.279C= (p.Leu93=) | |
19 | g.41869056C>G | CA406029954 | RPS19 | c.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=) | |
19 | g.41869056C>T | CA406029956 | RPS19 | c.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 |
19 | g.41869057C>A | CA9465347 | RPS19 | c.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 |
19 | g.41869057C= | CA2336668852 | RPS19 | c.212C= (p.Pro71=) c.199C= (p.Arg67=) c.-24C= (n.-24C=) c.1037C= (n.1037C=) c.280C= (p.Arg94=) | |
19 | g.41869057C>G | CA406029961 | RPS19 | c.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) | |
19 | g.41869057C>T | CA406029959 | RPS19 | c.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 |
19 | g.41869058G>A | CA308568091 | RPS19 | c.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 |
19 | g.41869058G>C | CA406029967 | RPS19 | c.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 |
19 | g.41869058G= | CA2336668853 | RPS19 | c.213G= (p.Pro71=) c.200G= (p.Arg67=) c.-23G= (n.-23G=) c.1038G= (n.1038G=) c.281G= (p.Arg94=) | |
19 | g.41869058G>T | CA406029965 | RPS19 | c.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 |
19 | g.41869061dup | CA2695228811 | RPS19 | c.216dup (p.Trp73ValfsTer8) c.203dup (p.Gly69TrpfsTer?) c.-20dup (n.-20dup) c.1041dup (n.1041dup) c.284dup (p.Gly96TrpfsTer?) | |
19 | g.41869059G>A | CA406029969 | RPS19 | c.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 |
19 | g.41869059G>C | CA9465348 | RPS19 | c.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 |
19 | g.41869059G= | CA2336668854 | RPS19 | c.214G= (p.Gly72=) c.201G= (p.Arg67=) c.-22G= (n.-22G=) c.1039G= (n.1039G=) c.282G= (p.Arg94=) | |
19 | g.41869059G>T | CA406029972 | RPS19 | c.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=) | |
19 | g.41869060G>A | CA406029974 | RPS19 | c.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) | |
19 | g.41869060G>C | CA406029976 | RPS19 | c.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) | |
19 | g.41869060G>T | CA406029978 | RPS19 | c.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) | |
19 | g.41869061G>A | CA406029981 | RPS19 | c.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) | |
19 | g.41869061G>C | CA406029983 | RPS19 | c.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) | |
19 | g.41869061G>T | CA406029985 | RPS19 | c.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) | |
19 | g.41869062T>A | CA406029988 | RPS19 | c.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=) | |
19 | g.41869062T>C | CA406029990 | RPS19 | c.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 |
19 | g.41869062T>G | CA406029992 | RPS19 | c.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=) | |
19 | g.41869062T= | CA2336668855 | RPS19 | c.217T= (p.Trp73=) c.204T= (p.Gly68=) c.-19T= (n.-19T=) c.1042T= (n.1042T=) c.285T= (p.Gly95=) | |
19 | g.41869063G>A | CA406029994 | RPS19 | c.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 |
19 | g.41869063G>C | CA406029999 | RPS19 | c.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) | |
19 | g.41869063G>T | CA406029996 | RPS19 | c.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) | |
19 | g.41869064G>A | CA406030001 | RPS19 | c.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) | |
19 | g.41869064G>C | CA406030005 | RPS19 | c.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) | |
19 | g.41869064G>T | CA406030006 | RPS19 | c.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) | |
19 | g.41869065C>A | CA406030010 | RPS19 | c.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=) | |
19 | g.41869065C= | CA2336668856 | RPS19 | c.220C= (p.Arg74=) c.207C= (p.Gly69=) c.-16C= (n.-16C=) c.1045C= (n.1045C=) c.288C= (p.Gly96=) | |
19 | g.41869065C>G | CA406030013 | RPS19 | c.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=) | |
19 | g.41869065C>T | CA308568116 | RPS19 | c.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 |
19 | g.41869066G>A | CA9465349 | RPS19 | c.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 |
19 | g.41869066G>C | CA406030018 | RPS19 | c.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) | |
19 | g.41869066G= | CA2336668857 | RPS19 | c.221G= (p.Arg74=) c.208G= (p.Ala70=) c.-15G= (n.-15G=) c.1046G= (n.1046G=) c.289G= (p.Ala97=) | |
19 | g.41869066G>T | CA406030020 | RPS19 | c.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 |
19 | g.41869067C>A | CA406030026 | RPS19 | c.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) | |
19 | g.41869067C>G | CA406030024 | RPS19 | c.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) | |
19 | g.41869067C>T | CA406030023 | RPS19 | c.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 |
19 | g.41869068T>A | CA406030029 | RPS19 | c.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 |
19 | g.41869068T>C | CA406030031 | RPS19 | c.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=) | |
19 | g.41869068T>G | CA406030033 | RPS19 | c.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=) | |
19 | g.41869068T= | CA2336668858 | RPS19 | c.223T= (p.Trp75=) c.210T= (p.Ala70=) c.-13T= (n.-13T=) c.1048T= (n.1048T=) c.291T= (p.Ala97=) | |
19 | g.41869069G>A | CA406030035 | RPS19 | c.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) | |
19 | g.41869069G>C | CA406030037 | RPS19 | c.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) | |
19 | g.41869069G>T | CA406030039 | RPS19 | c.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) | |
19 | g.41869072del | CA2695228812 | RPS19 | c.227del (p.Gly76ValfsTer?) c.214del (p.Val72LeufsTer4) c.-9del (n.-9del) c.1052del (n.1052del) c.295del (p.Val99LeufsTer4) | |
19 | g.41869069_41869080dup | CA996008870 | RPS19 | c.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 |
19 | g.41869070G>A | CA406030042 | RPS19 | c.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) | |
19 | g.41869070G>C | CA406030043 | RPS19 | c.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) | |
19 | g.41869070G>T | CA406030046 | RPS19 | c.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) | |
19 | g.41869071G>A | CA406030049 | RPS19 | c.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=) | |
19 | g.41869071G>C | CA406030051 | RPS19 | c.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=) | |
19 | g.41869071G>T | CA406030053 | RPS19 | c.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 |
19 | g.41869072G>A | CA406030060 | RPS19 | c.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 |
19 | g.41869072G>C | CA406030056 | RPS19 | c.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) | |
19 | g.41869072G= | CA2336668859 | RPS19 | c.227G= (p.Gly76=) c.214G= (p.Val72=) c.-9G= (n.-9G=) c.1052G= (n.1052G=) c.295G= (p.Val99=) | |
19 | g.41869072G>T | CA406030058 | RPS19 | c.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 |
19 | g.41869073T>A | CA406030062 | RPS19 | c.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) | |
19 | g.41869073T>C | CA406030064 | RPS19 | c.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) | |
19 | g.41869073T>G | CA406030066 | RPS19 | c.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) | |
19 | g.41869074T>A | CA406030068 | RPS19 | c.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=) | |
19 | g.41869074T>C | CA406030070 | RPS19 | c.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=) | |
19 | g.41869074T>G | CA406030072 | RPS19 | c.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=) | |
19 | g.41869075G>A | CA406030075 | RPS19 | c.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 |
19 | g.41869075G>C | CA406030077 | RPS19 | c.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) | |
19 | g.41869075G>T | CA406030079 | RPS19 | c.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) | |
19 | g.41869076G>A | CA406030082 | RPS19 | c.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 |
19 | g.41869076G>C | CA406030083 | RPS19 | c.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) | |
19 | g.41869076G= | CA2336668860 | RPS19 | c.231G= (p.Trp77=) c.218G= (p.Gly73=) c.-5G= (n.-5G=) c.1056G= (n.1056G=) c.299G= (p.Gly100=) | |
19 | g.41869076G>T | CA406030085 | RPS19 | c.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 |
19 | g.41869077C>A | CA406030088 | RPS19 | c.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=) | |
19 | g.41869077C= | CA2336668861 | RPS19 | c.232C= (p.Leu78=) c.219C= (p.Gly73=) c.-4C= (n.-4C=) c.1057C= (n.1057C=) c.300C= (p.Gly100=) | |
19 | g.41869077C>G | CA406030090 | RPS19 | c.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=) | |
19 | g.41869077C>T | CA406030087 | RPS19 | c.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 |
19 | g.41869078T>A | CA406030092 | RPS19 | c.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) | |
19 | g.41869078T>C | CA406030094 | RPS19 | c.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) | |
19 | g.41869078T>G | CA406030096 | RPS19 | c.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 |
19 | g.41869079C>A | CA406030098 | RPS19 | c.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) | |
19 | g.41869079C>G | CA406030100 | RPS19 | c.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) | |
19 | g.41869079C>T | CA406030102 | RPS19 | c.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) | |
19 | g.41869080del | CA2695228813 | RPS19 | c.235del (p.His79MetfsTer?) c.222del (p.Met75Ter) c.-1del (n.-1del) c.1060del (n.1060del) c.303del (p.Met102Ter) | |
19 | g.41869080C>A | CA406030108 | RPS19 | c.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=) | |
19 | g.41869080C>G | CA406030104 | RPS19 | c.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=) | |
19 | g.41869080C>T | CA406030107 | RPS19 | c.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=) | |
19 | g.41869081A= | CA2336668862 | RPS19 | c.236A= (p.His79=) c.223A= (p.Met75=) c.1A= (p.Met1=) c.1061A= (n.1061A=) c.304A= (p.Met102=) | |
19 | g.41869081A>C | CA406030111 | RPS19 | c.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 |
19 | g.41869081A>G | CA406030113 | RPS19 | c.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 |
19 | g.41869081A>T | CA406030114 | RPS19 | c.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) | |
19 | g.41869082T>A | CA406030118 | RPS19 | c.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) | |
19 | g.41869082T>C | CA406030120 | RPS19 | c.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 |
19 | g.41869082T>G | CA406030121 | RPS19 | c.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) | |
19 | g.41869083G>A | CA406030123 | RPS19 | c.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) | |
19 | g.41869083G>C | CA406030127 | RPS19 | c.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) | |
19 | g.41869083G>T | CA406030126 | RPS19 | c.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 |
19 | g.41869084A= | CA2336668863 | RPS19 | c.239A= (p.Asp80=) c.226A= (p.Thr76=) c.4A= (p.Thr2=) c.1064A= (n.1064A=) c.307A= | |
19 | g.41869084A>C | CA406030130 | RPS19 | c.239A>C (p.Asp80Ala) c.226A>C (p.Thr76Pro) c.4A>C (p.Thr2Pro) c.1064A>C (n.1064A>C) c.307A>C | |
19 | g.41869084A>G | CA9465350 | RPS19 | c.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 |
19 | g.41869084A>T | CA406030133 | RPS19 | c.239A>T (p.Asp80Val) c.226A>T (p.Thr76Ser) c.4A>T (p.Thr2Ser) c.1064A>T (n.1064A>T) c.307A>T | |
19 | g.41869085C>A | CA406030136 | RPS19 | c.240C>A (p.Asp80Glu) c.227C>A (p.Thr76Asn) c.5C>A (p.Thr2Asn) c.1065C>A (n.1065C>A) | |
19 | g.41869085C= | CA2336668864 | RPS19 | c.240C= (p.Asp80=) c.227C= (p.Thr76=) c.5C= (p.Thr2=) c.1065C= (n.1065C=) | |
19 | g.41869085C>G | CA406030138 | RPS19 | c.240C>G (p.Asp80Glu) c.227C>G (p.Thr76Ser) c.5C>G (p.Thr2Ser) c.1065C>G (n.1065C>G) | dbSNP |
19 | g.41869085C>T | CA406030140 | RPS19 | c.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 |
19 | g.41869086C>A | CA9465351 | RPS19 | c.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 |
19 | g.41869086C= | CA2336668865 | RPS19 | c.241C= (p.Gln81=) c.228C= (p.Thr76=) c.6C= (p.Thr2=) c.1066C= (n.1066C=) | |
19 | g.41869086C>G | CA406030144 | RPS19 | c.241C>G (p.Gln81Glu) c.228C>G (p.Thr76=) c.6C>G (p.Thr2=) c.1066C>G (n.1066C>G) | |
19 | g.41869086C>T | CA406030146 | RPS19 | c.241C>T (p.Gln81Ter) c.228C>T (p.Thr76=) c.6C>T (p.Thr2=) c.1066C>T (n.1066C>T) | |
19 | g.41869087A= | CA2336668866 | RPS19 | c.242A= (p.Gln81=) c.229A= (p.Lys77=) c.7A= (p.Lys3=) c.1067A= (n.1067A=) c.229A= | |
19 | g.41869087A>C | CA406030148 | RPS19 | c.242A>C (p.Gln81Pro) c.229A>C (p.Lys77Gln) c.7A>C (p.Lys3Gln) c.1067A>C (n.1067A>C) c.229A>C | dbSNP |
19 | g.41869087A>G | CA406030150 | RPS19 | c.242A>G (p.Gln81Arg) c.229A>G (p.Lys77Glu) c.7A>G (p.Lys3Glu) c.1067A>G (n.1067A>G) c.229A>G | |
19 | g.41869087A>T | CA406030152 | RPS19 | c.242A>T (p.Gln81Leu) c.229A>T (p.Lys77Ter) c.7A>T (p.Lys3Ter) c.1067A>T (n.1067A>T) c.229A>T | |
19 | g.41869088A= | CA2336668867 | RPS19 | c.243A= (p.Gln81=) c.230A= (p.Lys77=) c.8A= (p.Lys3=) c.1068A= (n.1068A=) | |
19 | g.41869088A>C | CA406030158 | RPS19 | c.243A>C (p.Gln81His) c.230A>C (p.Lys77Thr) c.8A>C (p.Lys3Thr) c.1068A>C (n.1068A>C) | |
19 | g.41869088A>G | CA406030155 | RPS19 | c.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 |
19 | g.41869088A>T | CA406030157 | RPS19 | c.243A>T (p.Gln81His) c.230A>T (p.Lys77Met) c.8A>T (p.Lys3Met) c.1068A>T (n.1068A>T) | |
19 | g.41869091_41869108del | CA2695228814 | RPS19 | c.246_263del (p.Asp82_Ser87del) c.233_250del (p.Ile78_Gln83del) c.11_28del (p.Ile4_Gln9del) c.1071_1088del (n.1071_1088del) | |
19 | g.41869089G>A | CA406030161 | RPS19 | c.244G>A (p.Asp82Asn) c.231G>A (p.Lys77=) c.9G>A (p.Lys3=) c.1069G>A (n.1069G>A) | |
19 | g.41869089G>C | CA308568140 | RPS19 | c.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 |
19 | g.41869089G= | CA2336668868 | RPS19 | c.244G= (p.Asp82=) c.231G= (p.Lys77=) c.9G= (p.Lys3=) c.1069G= (n.1069G=) | |
19 | g.41869089G>T | CA406030164 | RPS19 | c.244G>T (p.Asp82Tyr) c.231G>T (p.Lys77Asn) c.9G>T (p.Lys3Asn) c.1069G>T (n.1069G>T) | |
19 | g.41869090A>C | CA406030166 | RPS19 | c.245A>C (p.Asp82Ala) c.232A>C (p.Ile78Leu) c.10A>C (p.Ile4Leu) c.1070A>C (n.1070A>C) | |
19 | g.41869090A>G | CA406030168 | RPS19 | c.245A>G (p.Asp82Gly) c.232A>G (p.Ile78Val) c.10A>G (p.Ile4Val) c.1070A>G (n.1070A>G) | |
19 | g.41869090A>T | CA406030170 | RPS19 | c.245A>T (p.Asp82Val) c.232A>T (p.Ile78Phe) c.10A>T (p.Ile4Phe) c.1070A>T (n.1070A>T) | |
19 | g.41869091T>A | CA406030177 | RPS19 | c.246T>A (p.Asp82Glu) c.233T>A (p.Ile78Asn) c.11T>A (p.Ile4Asn) c.1071T>A (n.1071T>A) | |
19 | g.41869091T>C | CA406030173 | RPS19 | c.246T>C (p.Asp82=) c.233T>C (p.Ile78Thr) c.11T>C (p.Ile4Thr) c.1071T>C (n.1071T>C) | |
19 | g.41869091T>G | CA406030175 | RPS19 | c.246T>G (p.Asp82Glu) c.233T>G (p.Ile78Ser) c.11T>G (p.Ile4Ser) c.1071T>G (n.1071T>G) | |
19 | g.41869092C>A | CA406030179 | RPS19 | c.247C>A (p.Leu83Ile) c.234C>A (p.Ile78=) c.12C>A (p.Ile4=) c.1072C>A (n.1072C>A) | |
19 | g.41869092C= | CA2336668869 | RPS19 | c.247C= (p.Leu83=) c.234C= (p.Ile78=) c.12C= (p.Ile4=) c.1072C= (n.1072C=) | |
19 | g.41869092C>G | CA406030181 | RPS19 | c.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 |
19 | g.41869092C>T | CA507576128 | RPS19 | c.247C>T (p.Leu83=) c.234C>T (p.Ile78=) c.12C>T (p.Ile4=) c.1072C>T (n.1072C>T) | |
19 | g.41869093T>A | CA406030183 | RPS19 | c.248T>A (p.Leu83Gln) c.235T>A (p.Tyr79Asn) c.13T>A (p.Tyr5Asn) c.1073T>A (n.1073T>A) | |
19 | g.41869093T>C | CA406030186 | RPS19 | c.248T>C (p.Leu83Pro) c.235T>C (p.Tyr79His) c.13T>C (p.Tyr5His) c.1073T>C (n.1073T>C) | |
19 | g.41869093T>G | CA406030188 | RPS19 | c.248T>G (p.Leu83Arg) c.235T>G (p.Tyr79Asp) c.13T>G (p.Tyr5Asp) c.1073T>G (n.1073T>G) | |
19 | g.41869093dup | CA308568148 | RPS19 | c.248dup (p.Trp84MetfsTer?) c.235dup (p.Tyr79LeufsTer?) c.13dup (p.Tyr5LeufsTer?) c.1073dup (n.1073dup) | dbSNP |
19 | g.41869094A= | CA2336668870 | RPS19 | c.249A= (p.Leu83=) c.236A= (p.Tyr79=) c.14A= (p.Tyr5=) c.1074A= (n.1074A=) | |
19 | g.41869094A>C | CA406030194 | RPS19 | c.249A>C (p.Leu83=) c.236A>C (p.Tyr79Ser) c.14A>C (p.Tyr5Ser) c.1074A>C (n.1074A>C) | |
19 | g.41869094A>G | CA9465352 | RPS19 | c.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 |
19 | g.41869094A>T | CA406030192 | RPS19 | c.249A>T (p.Leu83=) c.236A>T (p.Tyr79Phe) c.14A>T (p.Tyr5Phe) c.1074A>T (n.1074A>T) | |
19 | g.41869095T>A | CA406030197 | RPS19 | c.250T>A (p.Trp84Arg) c.237T>A (p.Tyr79Ter) c.15T>A (p.Tyr5Ter) c.1075T>A (n.1075T>A) | |
19 | g.41869095T>C | CA406030199 | RPS19 | c.250T>C (p.Trp84Arg) c.237T>C (p.Tyr79=) c.15T>C (p.Tyr5=) c.1075T>C (n.1075T>C) | dbSNP |
19 | g.41869095T>G | CA406030201 | RPS19 | c.250T>G (p.Trp84Gly) c.237T>G (p.Tyr79Ter) c.15T>G (p.Tyr5Ter) c.1075T>G (n.1075T>G) | |
19 | g.41869095T= | CA2336668871 | RPS19 | c.250T= (p.Trp84=) c.237T= (p.Tyr79=) c.15T= (p.Tyr5=) c.1075T= (n.1075T=) | |
19 | g.41869096G>A | CA406030204 | RPS19 | c.251G>A (p.Trp84Ter) c.238G>A (p.Gly80Arg) c.16G>A (p.Gly6Arg) c.1076G>A (n.1076G>A) | |
19 | g.41869096G>C | CA406030206 | RPS19 | c.251G>C (p.Trp84Ser) c.238G>C (p.Gly80Arg) c.16G>C (p.Gly6Arg) c.1076G>C (n.1076G>C) | |
19 | g.41869096G>T | CA406030208 | RPS19 | c.251G>T (p.Trp84Leu) c.238G>T (p.Gly80Trp) c.16G>T (p.Gly6Trp) c.1076G>T (n.1076G>T) | |
19 | g.41869100dup | CA2695228816 | RPS19 | c.255dup (p.Thr86AspfsTer?) c.242dup (p.Arg82ThrfsTer?) c.20dup (p.Arg8ThrfsTer?) c.1080dup (n.1080dup) c.255dup (p.Thr86AspfsTer30) | |
19 | g.41869100del | CA2695228815 | RPS19 | c.255del (p.Thr86ArgfsTer?) c.242del (p.Gly81AspfsTer30) c.20del (p.Gly7AspfsTer30) c.1080del (n.1080del) | |
19 | g.41869097G>A | CA406030211 | RPS19 | c.252G>A (p.Trp84Ter) c.239G>A (p.Gly80Glu) c.17G>A (p.Gly6Glu) c.1077G>A (n.1077G>A) | |
19 | g.41869097G>C | CA406030213 | RPS19 | c.252G>C (p.Trp84Cys) c.239G>C (p.Gly80Ala) c.17G>C (p.Gly6Ala) c.1077G>C (n.1077G>C) | |
19 | g.41869097G>T | CA406030215 | RPS19 | c.252G>T (p.Trp84Cys) c.239G>T (p.Gly80Val) c.17G>T (p.Gly6Val) c.1077G>T (n.1077G>T) | |
19 | g.41869098G>A | CA9465353 | RPS19 | c.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 |
19 | g.41869098G>C | CA406030219 | RPS19 | c.253G>C (p.Gly85Arg) c.240G>C (p.Gly80=) c.18G>C (p.Gly6=) c.1078G>C (n.1078G>C) | |
19 | g.41869098G= | CA2336668872 | RPS19 | c.253G= (p.Gly85=) c.240G= (p.Gly80=) c.18G= (p.Gly6=) c.1078G= (n.1078G=) | |
19 | g.41869098G>T | CA406030220 | RPS19 | c.253G>T (p.Gly85Trp) c.240G>T (p.Gly80=) c.18G>T (p.Gly6=) c.1078G>T (n.1078G>T) | |
19 | g.41869099G>A | CA406030223 | RPS19 | c.254G>A (p.Gly85Glu) c.241G>A (p.Gly81Arg) c.19G>A (p.Gly7Arg) c.1079G>A (n.1079G>A) | |
19 | g.41869099G>C | CA406030226 | RPS19 | c.254G>C (p.Gly85Ala) c.241G>C (p.Gly81Arg) c.19G>C (p.Gly7Arg) c.1079G>C (n.1079G>C) | |
19 | g.41869099G>T | CA406030224 | RPS19 | c.254G>T (p.Gly85Val) c.241G>T (p.Gly81Ter) c.19G>T (p.Gly7Ter) c.1079G>T (n.1079G>T) | |
19 | g.41869100G>A | CA406030229 | RPS19 | c.255G>A (p.Gly85=) c.242G>A (p.Gly81Glu) c.20G>A (p.Gly7Glu) c.1080G>A (n.1080G>A) | |
19 | g.41869100G>C | CA406030230 | RPS19 | c.255G>C (p.Gly85=) c.242G>C (p.Gly81Ala) c.20G>C (p.Gly7Ala) c.1080G>C (n.1080G>C) | |
19 | g.41869100G>T | CA406030233 | RPS19 | c.255G>T (p.Gly85=) c.242G>T (p.Gly81Val) c.20G>T (p.Gly7Val) c.1080G>T (n.1080G>T) | |
19 | g.41869101A= | CA2336668873 | RPS19 | c.256A= (p.Thr86=) c.243A= (p.Gly81=) c.21A= (p.Gly7=) c.1081A= (n.1081A=) | |
19 | g.41869101A>C | CA406030235 | RPS19 | c.256A>C (p.Thr86Pro) c.243A>C (p.Gly81=) c.21A>C (p.Gly7=) c.1081A>C (n.1081A>C) | |
19 | g.41869101A>G | CA308568163 | RPS19 | c.256A>G (p.Thr86Ala) c.243A>G (p.Gly81=) c.21A>G (p.Gly7=) c.1081A>G (n.1081A>G) | dbSNP |
19 | g.41869101A>T | CA9465354 | RPS19 | c.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 |
19 | g.41869101dup | CA2695228817 | RPS19 | c.256dup (p.Thr86AsnfsTer?) c.243dup (p.Arg82ThrfsTer?) c.21dup (p.Arg8ThrfsTer?) c.1081dup (n.1081dup) c.256dup (p.Thr86AsnfsTer30) | |
19 | g.41869102C>A | CA406030244 | RPS19 | c.257C>A (p.Thr86Lys) c.244C>A (p.Arg82Ser) c.22C>A (p.Arg8Ser) c.1082C>A (n.1082C>A) | |
19 | g.41869102C= | CA2336668874 | RPS19 | c.257C= (p.Thr86=) c.244C= (p.Arg82=) c.22C= (p.Arg8=) c.1082C= (n.1082C=) | |
19 | g.41869102C>G | CA406030242 | RPS19 | c.257C>G (p.Thr86Arg) c.244C>G (p.Arg82Gly) c.22C>G (p.Arg8Gly) c.1082C>G (n.1082C>G) | |
19 | g.41869102C>T | CA406030241 | RPS19 | c.257C>T (p.Thr86Met) c.244C>T (p.Arg82Cys) c.22C>T (p.Arg8Cys) c.1082C>T (n.1082C>T) | dbSNP gnomAD v2 |
19 | g.41869103G>A | CA9465355 | RPS19 | c.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 |
19 | g.41869103G>C | CA406030247 | RPS19 | c.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 |
19 | g.41869103G= | CA2336668875 | RPS19 | c.258G= (p.Thr86=) c.245G= (p.Arg82=) c.23G= (p.Arg8=) c.1083G= (n.1083G=) | |
19 | g.41869103G>T | CA406030249 | RPS19 | c.258G>T (p.Thr86=) c.245G>T (p.Arg82Leu) c.23G>T (p.Arg8Leu) c.1083G>T (n.1083G>T) | ClinVar |
19 | g.41869104T>A | CA406030250 | RPS19 | c.259T>A (p.Ser87Thr) c.246T>A (p.Arg82=) c.24T>A (p.Arg8=) c.1084T>A (n.1084T>A) | |
19 | g.41869104T>C | CA406030252 | RPS19 | c.259T>C (p.Ser87Pro) c.246T>C (p.Arg82=) c.24T>C (p.Arg8=) c.1084T>C (n.1084T>C) | |
19 | g.41869104T>G | CA406030254 | RPS19 | c.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 |
19 | g.41869104T= | CA2336668876 | RPS19 | c.259T= (p.Ser87=) c.246T= (p.Arg82=) c.24T= (p.Arg8=) c.1084T= (n.1084T=) | |
19 | g.41869105C>A | CA406030256 | RPS19 | c.260C>A (p.Ser87Ter) c.247C>A (p.Gln83Lys) c.25C>A (p.Gln9Lys) c.1085C>A (n.1085C>A) | |
19 | g.41869105C>G | CA406030260 | RPS19 | c.260C>G (p.Ser87Ter) c.247C>G (p.Gln83Glu) c.25C>G (p.Gln9Glu) c.1085C>G (n.1085C>G) | |
19 | g.41869105C>T | CA406030258 | RPS19 | c.260C>T (p.Ser87Leu) c.247C>T (p.Gln83Ter) c.25C>T (p.Gln9Ter) c.1085C>T (n.1085C>T) | |
19 | g.41869106A>C | CA406030261 | RPS19 | c.261A>C (p.Ser87=) c.248A>C (p.Gln83Pro) c.26A>C (p.Gln9Pro) c.1086A>C (n.1086A>C) | |
19 | g.41869106A>G | CA406030263 | RPS19 | c.261A>G (p.Ser87=) c.248A>G (p.Gln83Arg) c.26A>G (p.Gln9Arg) c.1086A>G (n.1086A>G) | gnomAD v4 |
19 | g.41869106A>T | CA406030264 | RPS19 | c.261A>T (p.Ser87=) c.248A>T (p.Gln83Leu) c.26A>T (p.Gln9Leu) c.1086A>T (n.1086A>T) | |
19 | g.41869106dup | CA2695228819 | RPS19 | c.261dup (p.Glu88ArgfsTer?) c.248dup (p.Arg84GlufsTer?) c.26dup (p.Arg10GlufsTer?) c.1086dup (n.1086dup) c.261dup (p.Glu88ArgfsTer28) | |
19 | g.41869109_41869110del | CA2695228818 | RPS19 | c.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) | |
19 | g.41869107G>A | CA406030265 | RPS19 | c.262G>A (p.Glu88Lys) c.249G>A (p.Gln83=) c.27G>A (p.Gln9=) c.1087G>A (n.1087G>A) | dbSNP |
19 | g.41869107G>C | CA406030266 | RPS19 | c.262G>C (p.Glu88Gln) c.249G>C (p.Gln83His) c.27G>C (p.Gln9His) c.1087G>C (n.1087G>C) | |
19 | g.41869107G= | CA2336668877 | RPS19 | c.262G= (p.Glu88=) c.249G= (p.Gln83=) c.27G= (p.Gln9=) c.1087G= (n.1087G=) | |
19 | g.41869107G>T | CA406030268 | RPS19 | c.262G>T (p.Glu88Ter) c.249G>T (p.Gln83His) c.27G>T (p.Gln9His) c.1087G>T (n.1087G>T) | |
19 | g.41869108A= | CA2336668878 | RPS19 | c.263A= (p.Glu88=) c.250A= (p.Arg84=) c.28A= (p.Arg10=) c.1088A= (n.1088A=) | |
19 | g.41869108A>C | CA406030270 | RPS19 | c.263A>C (p.Glu88Ala) c.250A>C (p.Arg84=) c.28A>C (p.Arg10=) c.1088A>C (n.1088A>C) | |
19 | g.41869108A>G | CA406030272 | RPS19 | c.263A>G (p.Glu88Gly) c.250A>G (p.Arg84Gly) c.28A>G (p.Arg10Gly) c.1088A>G (n.1088A>G) | gnomAD v4 |
19 | g.41869108A>T | CA130766 | RPS19 | c.263A>T (p.Glu88Val) c.250A>T (p.Arg84Ter) c.28A>T (p.Arg10Ter) c.1088A>T (n.1088A>T) | ClinVar dbSNP |
19 | g.41869108dup | CA2695228820 | RPS19 | c.263dup (p.Lys89GlufsTer?) c.250dup (p.Arg84LysfsTer?) c.28dup (p.Arg10LysfsTer?) c.1088dup (n.1088dup) c.263dup (p.Lys89GlufsTer27) | |
19 | g.41869109del | CA2695228821 | RPS19 | c.264del (p.Lys89AsnfsTer?) c.251del (p.Arg84LysfsTer27) c.29del (p.Arg10LysfsTer27) c.1089del (n.1089del) | |
19 | g.41869109G>A | CA406030274 | RPS19 | c.264G>A (p.Glu88=) c.251G>A (p.Arg84Lys) c.29G>A (p.Arg10Lys) c.1089G>A (n.1089G>A) | |
19 | g.41869109G>C | CA406030275 | RPS19 | c.264G>C (p.Glu88Asp) c.251G>C (p.Arg84Thr) c.29G>C (p.Arg10Thr) c.1089G>C (n.1089G>C) | |
19 | g.41869109G>T | CA406030278 | RPS19 | c.264G>T (p.Glu88Asp) c.251G>T (p.Arg84Ile) c.29G>T (p.Arg10Ile) c.1089G>T (n.1089G>T) | |
19 | g.41869110A= | CA2336668879 | RPS19 | c.265A= (p.Lys89=) c.252A= (p.Arg84=) c.30A= (p.Arg10=) c.1090A= (n.1090A=) | |
19 | g.41869110A>C | CA406030280 | RPS19 | c.265A>C (p.Lys89Gln) c.252A>C (p.Arg84Ser) c.30A>C (p.Arg10Ser) c.1090A>C (n.1090A>C) | |
19 | g.41869110A>G | CA406030284 | RPS19 | c.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 |
19 | g.41869110A>T | CA406030282 | RPS19 | c.265A>T (p.Lys89Ter) c.252A>T (p.Arg84Ser) c.30A>T (p.Arg10Ser) c.1090A>T (n.1090A>T) | |
19 | g.41869111A>C | CA406030286 | RPS19 | c.266A>C (p.Lys89Thr) c.253A>C (p.Asn85His) c.31A>C (p.Asn11His) c.1091A>C (n.1091A>C) | |
19 | g.41869111A>G | CA406030288 | RPS19 | c.266A>G (p.Lys89Arg) c.253A>G (p.Asn85Asp) c.31A>G (p.Asn11Asp) c.1091A>G (n.1091A>G) | |
19 | g.41869111A>T | CA406030290 | RPS19 | c.266A>T (p.Lys89Ile) c.253A>T (p.Asn85Tyr) c.31A>T (p.Asn11Tyr) c.1091A>T (n.1091A>T) | |
19 | g.41869112A= | CA2336668880 | RPS19 | c.267A= (p.Lys89=) c.254A= (p.Asn85=) c.32A= (p.Asn11=) c.1092A= (n.1092A=) | |
19 | g.41869112A>C | CA406030293 | RPS19 | c.267A>C (p.Lys89Asn) c.254A>C (p.Asn85Thr) c.32A>C (p.Asn11Thr) c.1092A>C (n.1092A>C) | dbSNP |
19 | g.41869112A>G | CA406030296 | RPS19 | c.267A>G (p.Lys89=) c.254A>G (p.Asn85Ser) c.32A>G (p.Asn11Ser) c.1092A>G (n.1092A>G) | |
19 | g.41869112A>T | CA406030297 | RPS19 | c.267A>T (p.Lys89Asn) c.254A>T (p.Asn85Ile) c.32A>T (p.Asn11Ile) c.1092A>T (n.1092A>T) | |
19 | g.41869113C>A | CA406030300 | RPS19 | c.268C>A (p.Arg90=) c.255C>A (p.Asn85Lys) c.33C>A (p.Asn11Lys) c.1093C>A (n.1093C>A) | |
19 | g.41869113C= | CA2336668881 | RPS19 | c.268C= (p.Arg90=) c.255C= (p.Asn85=) c.33C= (p.Asn11=) c.1093C= (n.1093C=) | |
19 | g.41869113C>G | CA406030302 | RPS19 | c.268C>G (p.Arg90Gly) c.255C>G (p.Asn85Lys) c.33C>G (p.Asn11Lys) c.1093C>G (n.1093C>G) | |
19 | g.41869113C>T | CA9465356 | RPS19 | c.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 |
19 | g.41869114G>A | CA406030305 | RPS19 | c.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 |
19 | g.41869114G>C | CA406030307 | RPS19 | c.269G>C (p.Arg90Pro) c.256G>C (p.Gly86Arg) c.34G>C (p.Gly12Arg) c.1094G>C (n.1094G>C) | |
19 | g.41869114G= | CA2336668882 | RPS19 | c.269G= (p.Arg90=) c.256G= (p.Gly86=) c.34G= (p.Gly12=) c.1094G= (n.1094G=) | |
19 | g.41869114G>T | CA406030309 | RPS19 | c.269G>T (p.Arg90Leu) c.256G>T (p.Gly86Cys) c.34G>T (p.Gly12Cys) c.1094G>T (n.1094G>T) | |
19 | g.41869115dup | CA1139666469 | RPS19 | c.270dup (p.Arg91AlafsTer?) c.257dup (p.Val87ArgfsTer?) c.35dup (p.Val13ArgfsTer?) c.1095dup (n.1095dup) c.270dup (p.Arg91AlafsTer25) | ClinVar dbSNP |
19 | g.41869115G>A | CA406030316 | RPS19 | c.270G>A (p.Arg90=) c.257G>A (p.Gly86Asp) c.35G>A (p.Gly12Asp) c.1095G>A (n.1095G>A) | |
19 | g.41869115G>C | CA406030312 | RPS19 | c.270G>C (p.Arg90=) c.257G>C (p.Gly86Ala) c.35G>C (p.Gly12Ala) c.1095G>C (n.1095G>C) | |
19 | g.41869115G>T | CA406030314 | RPS19 | c.270G>T (p.Arg90=) c.257G>T (p.Gly86Val) c.35G>T (p.Gly12Val) c.1095G>T (n.1095G>T) | |
19 | g.41869115_41869116insA | CA2695228822 | RPS19 | c.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) | |
19 | g.41869116C>A | CA406030318 | RPS19 | c.271C>A (p.Arg91Ser) c.258C>A (p.Gly86=) c.36C>A (p.Gly12=) c.1096C>A (n.1096C>A) | |
19 | g.41869116C= | CA2336668883 | RPS19 | c.271C= (p.Arg91=) c.258C= (p.Gly86=) c.36C= (p.Gly12=) c.1096C= (n.1096C=) | |
19 | g.41869116C>G | CA406030320 | RPS19 | c.271C>G (p.Arg91Gly) c.258C>G (p.Gly86=) c.36C>G (p.Gly12=) c.1096C>G (n.1096C>G) | |
19 | g.41869116C>T | CA9465357 | RPS19 | c.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 |
19 | g.41869117G>A | CA9465358 | RPS19 | c.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 |
19 | g.41869117G>C | CA406030328 | RPS19 | c.272G>C (p.Arg91Pro) c.259G>C (p.Val87Leu) c.37G>C (p.Val13Leu) c.1097G>C (n.1097G>C) | |
19 | g.41869117G= | CA2336668884 | RPS19 | c.272G= (p.Arg91=) c.259G= (p.Val87=) c.37G= (p.Val13=) c.1097G= (n.1097G=) | |
19 | g.41869117G>T | CA406030331 | RPS19 | c.272G>T (p.Arg91Leu) c.259G>T (p.Val87Phe) c.37G>T (p.Val13Phe) c.1097G>T (n.1097G>T) | |
19 | g.41869118T>A | CA406030334 | RPS19 | c.273T>A (p.Arg91=) c.260T>A (p.Val87Asp) c.38T>A (p.Val13Asp) c.1098T>A (n.1098T>A) | |
19 | g.41869118T>C | CA406030335 | RPS19 | c.273T>C (p.Arg91=) c.260T>C (p.Val87Ala) c.38T>C (p.Val13Ala) c.1098T>C (n.1098T>C) | |
19 | g.41869118T>G | CA406030337 | RPS19 | c.273T>G (p.Arg91=) c.260T>G (p.Val87Gly) c.38T>G (p.Val13Gly) c.1098T>G (n.1098T>G) | |
19 | g.41869119C>A | CA406030340 | RPS19 | c.274C>A (p.His92Asn) c.261C>A (p.Val87=) c.39C>A (p.Val13=) c.1099C>A (n.1099C>A) | |
19 | g.41869119C>G | CA406030341 | RPS19 | c.274C>G (p.His92Asp) c.261C>G (p.Val87=) c.39C>G (p.Val13=) c.1099C>G (n.1099C>G) | |
19 | g.41869119C>T | CA406030344 | RPS19 | c.274C>T (p.His92Tyr) c.261C>T (p.Val87=) c.39C>T (p.Val13=) c.1099C>T (n.1099C>T) | |
19 | g.41869120A>C | CA406030348 | RPS19 | c.275A>C (p.His92Pro) c.262A>C (p.Met88Leu) c.40A>C (p.Met14Leu) c.1100A>C (n.1100A>C) | |
19 | g.41869120A>G | CA406030350 | RPS19 | c.275A>G (p.His92Arg) c.262A>G (p.Met88Val) c.40A>G (p.Met14Val) c.1100A>G (n.1100A>G) | |
19 | g.41869120A>T | CA406030346 | RPS19 | c.275A>T (p.His92Leu) c.262A>T (p.Met88Leu) c.40A>T (p.Met14Leu) c.1100A>T (n.1100A>T) | |
19 | g.41869121T>A | CA406030352 | RPS19 | c.276T>A (p.His92Gln) c.263T>A (p.Met88Lys) c.41T>A (p.Met14Lys) c.1101T>A (n.1101T>A) | |
19 | g.41869121T>C | CA406030351 | RPS19 | c.276T>C (p.His92=) c.263T>C (p.Met88Thr) c.41T>C (p.Met14Thr) c.1101T>C (n.1101T>C) | |
19 | g.41869121T>G | CA406030355 | RPS19 | c.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 |
19 | g.41869121T= | CA2336668885 | RPS19 | c.276T= (p.His92=) c.263T= (p.Met88=) c.41T= (p.Met14=) c.1101T= (n.1101T=) | |
19 | g.41869122G>A | CA406030358 | RPS19 | c.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 |
19 | g.41869122G>C | CA9465359 | RPS19 | c.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 |
19 | g.41869122G= | CA2336668886 | RPS19 | c.277G= (p.Ala93=) c.264G= (p.Met88=) c.42G= (p.Met14=) c.1102G= (n.1102G=) | |
19 | g.41869122G>T | CA406030360 | RPS19 | c.277G>T (p.Ala93Ser) c.264G>T (p.Met88Ile) c.42G>T (p.Met14Ile) c.1102G>T (n.1102G>T) | |
19 | g.41869125_41869129del | CA1139770402 | RPS19 | c.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) | |
19 | g.41869123C>A | CA406030363 | RPS19 | c.278C>A (p.Ala93Asp) c.265C>A (p.Pro89Thr) c.43C>A (p.Pro15Thr) c.1103C>A (n.1103C>A) | |
19 | g.41869123C>G | CA406030367 | RPS19 | c.278C>G (p.Ala93Gly) c.265C>G (p.Pro89Ala) c.43C>G (p.Pro15Ala) c.1103C>G (n.1103C>G) | gnomAD v4 |
19 | g.41869123C>T | CA406030365 | RPS19 | c.278C>T (p.Ala93Val) c.265C>T (p.Pro89Ser) c.43C>T (p.Pro15Ser) c.1103C>T (n.1103C>T) | |
19 | g.41869124C>A | CA406030370 | RPS19 | c.279C>A (p.Ala93=) c.266C>A (p.Pro89His) c.44C>A (p.Pro15His) c.1104C>A (n.1104C>A) | |
19 | g.41869124C>G | CA406030372 | RPS19 | c.279C>G (p.Ala93=) c.266C>G (p.Pro89Arg) c.44C>G (p.Pro15Arg) c.1104C>G (n.1104C>G) | ClinVar |
19 | g.41869124C>T | CA406030374 | RPS19 | c.279C>T (p.Ala93=) c.266C>T (p.Pro89Leu) c.44C>T (p.Pro15Leu) c.1104C>T (n.1104C>T) | |
19 | g.41869125C>A | CA406030377 | RPS19 | c.280C>A (p.Gln94Lys) c.267C>A (p.Pro89=) c.45C>A (p.Pro15=) c.1105C>A (n.1105C>A) | |
19 | g.41869125C>G | CA406030379 | RPS19 | c.280C>G (p.Gln94Glu) c.267C>G (p.Pro89=) c.45C>G (p.Pro15=) c.1105C>G (n.1105C>G) | |
19 | g.41869125C>T | CA406030381 | RPS19 | c.280C>T (p.Gln94Ter) c.267C>T (p.Pro89=) c.45C>T (p.Pro15=) c.1105C>T (n.1105C>T) | |
19 | g.41869126A>C | CA406030384 | RPS19 | c.281A>C (p.Gln94Pro) c.268A>C (p.Ser90Arg) c.46A>C (p.Ser16Arg) c.1106A>C (n.1106A>C) | |
19 | g.41869126A>G | CA406030385 | RPS19 | c.281A>G (p.Gln94Arg) c.268A>G (p.Ser90Gly) c.46A>G (p.Ser16Gly) c.1106A>G (n.1106A>G) | |
19 | g.41869126A>T | CA406030387 | RPS19 | c.281A>T (p.Gln94Leu) c.268A>T (p.Ser90Cys) c.46A>T (p.Ser16Cys) c.1106A>T (n.1106A>T) | |
19 | g.41869127G>A | CA406030390 | RPS19 | c.282G>A (p.Gln94=) c.269G>A (p.Ser90Asn) c.47G>A (p.Ser16Asn) c.1107G>A (n.1107G>A) | |
19 | g.41869127G>C | CA406030393 | RPS19 | c.282G>C (p.Gln94His) c.269G>C (p.Ser90Thr) c.47G>C (p.Ser16Thr) c.1107G>C (n.1107G>C) | |
19 | g.41869127G>T | CA406030394 | RPS19 | c.282G>T (p.Gln94His) c.269G>T (p.Ser90Ile) c.47G>T (p.Ser16Ile) c.1107G>T (n.1107G>T) | |
19 | g.41869128C>A | CA406030398 | RPS19 | c.283C>A (p.Pro95Thr) c.270C>A (p.Ser90Arg) c.48C>A (p.Ser16Arg) c.1108C>A (n.1108C>A) | |
19 | g.41869128C>G | CA406030402 | RPS19 | c.283C>G (p.Pro95Ala) c.270C>G (p.Ser90Arg) c.48C>G (p.Ser16Arg) c.1108C>G (n.1108C>G) | |
19 | g.41869128C>T | CA406030399 | RPS19 | c.283C>T (p.Pro95Ser) c.270C>T (p.Ser90=) c.48C>T (p.Ser16=) c.1108C>T (n.1108C>T) | |
19 | g.41869129C>A | CA406030404 | RPS19 | c.284C>A (p.Pro95Gln) c.271C>A (p.His91Asn) c.49C>A (p.His17Asn) c.1109C>A (n.1109C>A) | |
19 | g.41869129C= | CA2336668887 | RPS19 | c.284C= (p.Pro95=) c.271C= (p.His91=) c.49C= (p.His17=) c.1109C= (n.1109C=) | |
19 | g.41869129C>G | CA406030407 | RPS19 | c.284C>G (p.Pro95Arg) c.271C>G (p.His91Asp) c.49C>G (p.His17Asp) c.1109C>G (n.1109C>G) | |
19 | g.41869129C>T | CA406030409 | RPS19 | c.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 |
19 | g.41869130A>C | CA406030411 | RPS19 | c.285A>C (p.Pro95=) c.272A>C (p.His91Pro) c.50A>C (p.His17Pro) c.1110A>C (n.1110A>C) | |
19 | g.41869130A>G | CA406030414 | RPS19 | c.285A>G (p.Pro95=) c.272A>G (p.His91Arg) c.50A>G (p.His17Arg) c.1110A>G (n.1110A>G) | gnomAD v4 |
19 | g.41869130A>T | CA406030415 | RPS19 | c.285A>T (p.Pro95=) c.272A>T (p.His91Leu) c.50A>T (p.His17Leu) c.1110A>T (n.1110A>T) | |
19 | g.41869131C>A | CA406030418 | RPS19 | c.286C>A (p.Leu96Ile) c.273C>A (p.His91Gln) c.51C>A (p.His17Gln) c.1111C>A (n.1111C>A) | |
19 | g.41869131C= | CA2336668888 | RPS19 | c.286C= (p.Leu96=) c.273C= (p.His91=) c.51C= (p.His17=) c.1111C= (n.1111C=) | |
19 | g.41869131C>G | CA406030420 | RPS19 | c.286C>G (p.Leu96Val) c.273C>G (p.His91Gln) c.51C>G (p.His17Gln) c.1111C>G (n.1111C>G) | |
19 | g.41869131C>T | CA308568184 | RPS19 | c.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 |
19 | g.41869132_41869162del | CA2695228823 | RPS19 | c.274_304del (p.Phe92GlyfsTer9) c.52_82del (p.Phe18GlyfsTer9) c.1112_1142del (n.1112_1142del) c.287_317del (p.Leu96ArgfsTer?) | |
19 | g.41869132T>A | CA406030428 | RPS19 | c.287T>A (p.Leu96His) c.274T>A (p.Phe92Ile) c.52T>A (p.Phe18Ile) c.1112T>A (n.1112T>A) | |
19 | g.41869132T>C | CA406030426 | RPS19 | c.287T>C (p.Leu96Pro) c.274T>C (p.Phe92Leu) c.52T>C (p.Phe18Leu) c.1112T>C (n.1112T>C) | |
19 | g.41869132T>G | CA406030424 | RPS19 | c.287T>G (p.Leu96Arg) c.274T>G (p.Phe92Val) c.52T>G (p.Phe18Val) c.1112T>G (n.1112T>G) | |
19 | g.41869133del | CA2695228824 | RPS19 | c.288del (p.Gln97SerfsTer?) c.275del (p.Phe92SerfsTer19) c.53del (p.Phe18SerfsTer19) c.1113del (n.1113del) | |
19 | g.41869133T>A | CA406030430 | RPS19 | c.288T>A (p.Leu96=) c.275T>A (p.Phe92Tyr) c.53T>A (p.Phe18Tyr) c.1113T>A (n.1113T>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41869133T>C | CA406030432 | RPS19 | c.288T>C (p.Leu96=) c.275T>C (p.Phe92Ser) c.53T>C (p.Phe18Ser) c.1113T>C (n.1113T>C) | |
19 | g.41869133T>G | CA406030434 | RPS19 | c.288T>G (p.Leu96=) c.275T>G (p.Phe92Cys) c.53T>G (p.Phe18Cys) c.1113T>G (n.1113T>G) | |
19 | g.41869133T= | CA2336668889 | RPS19 | c.288T= (p.Leu96=) c.275T= (p.Phe92=) c.53T= (p.Phe18=) c.1113T= (n.1113T=) |