Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.41869132_41869162delCA2695228823RPS19c.274_304del (p.Phe92GlyfsTer9)
c.52_82del (p.Phe18GlyfsTer9)
c.1112_1142del (n.1112_1142del)
c.287_317del (p.Leu96ArgfsTer?)
19g.41869142delCA2695228825RPS19c.297del (p.Arg99SerfsTer?)
c.284del (p.Gly95AlafsTer16)
c.62del (p.Gly21AlafsTer16)
c.1122del (n.1122del)
19g.41869142G>ACA406030462RPS19c.297G>A (p.Arg99=)
c.284G>A (p.Gly95Asp)
c.62G>A (p.Gly21Asp)
c.1122G>A (n.1122G>A)
19g.41869142G>CCA406030463RPS19c.297G>C (p.Arg99Ser)
c.284G>C (p.Gly95Ala)
c.62G>C (p.Gly21Ala)
c.1122G>C (n.1122G>C)
 dbSNP
19g.41869142G=CA2336668896RPS19c.297G= (p.Arg99=)
c.284G= (p.Gly95=)
c.62G= (p.Gly21=)
c.1122G= (n.1122G=)
19g.41869142G>TCA406030461RPS19c.297G>T (p.Arg99Ser)
c.284G>T (p.Gly95Val)
c.62G>T (p.Gly21Val)
c.1122G>T (n.1122G>T)
19g.41869143C>ACA406030466RPS19c.298C>A (p.Leu100Ile)
c.285C>A (p.Gly95=)
c.63C>A (p.Gly21=)
c.1123C>A (n.1123C>A)
19g.41869143C>GCA406030464RPS19c.298C>G (p.Leu100Val)
c.285C>G (p.Gly95=)
c.63C>G (p.Gly21=)
c.1123C>G (n.1123C>G)
19g.41869143C>TCA406030465RPS19c.298C>T (p.Leu100Phe)
c.285C>T (p.Gly95=)
c.63C>T (p.Gly21=)
c.1123C>T (n.1123C>T)
 ClinVar dbSNP
19g.41869144T>ACA406030467RPS19c.299T>A (p.Leu100His)
c.286T>A (p.Ser96Thr)
c.64T>A (p.Ser22Thr)
c.1124T>A (n.1124T>A)
19g.41869144T>CCA406030468RPS19c.299T>C (p.Leu100Pro)
c.286T>C (p.Ser96Pro)
c.64T>C (p.Ser22Pro)
c.1124T>C (n.1124T>C)
19g.41869144T>GCA406030469RPS19c.299T>G (p.Leu100Arg)
c.286T>G (p.Ser96Ala)
c.64T>G (p.Ser22Ala)
c.1124T>G (n.1124T>G)
19g.41869145C>ACA406030470RPS19c.300C>A (p.Leu100=)
c.287C>A (p.Ser96Tyr)
c.65C>A (p.Ser22Tyr)
c.1125C>A (n.1125C>A)
19g.41869145C>GCA406030471RPS19c.300C>G (p.Leu100=)
c.287C>G (p.Ser96Cys)
c.65C>G (p.Ser22Cys)
c.1125C>G (n.1125C>G)
19g.41869145C>TCA406030472RPS19c.300C>T (p.Leu100=)
c.287C>T (p.Ser96Phe)
c.65C>T (p.Ser22Phe)
c.1125C>T (n.1125C>T)
 gnomAD v4
19g.41869146dupCA2580097298RPS19c.288dup (p.Lys97GlnfsTer?)
c.66dup (p.Lys23GlnfsTer?)
c.1126dup (n.1126dup)
c.301dup (p.Gln101ProfsTer15)
 ClinVar
19g.41869146C>ACA507576363RPS19c.301C>A
c.288C>A (p.Ser96=)
c.66C>A (p.Ser22=)
c.1126C>A (n.1126C>A)
c.301C>A (p.Gln101Lys)
19g.41869146C=CA2336668897RPS19c.301C=
c.288C= (p.Ser96=)
c.66C= (p.Ser22=)
c.1126C= (n.1126C=)
c.301C= (p.Gln101=)
19g.41869146C>GCA9465363RPS19c.301C>G
c.288C>G (p.Ser96=)
c.66C>G (p.Ser22=)
c.1126C>G (n.1126C>G)
c.301C>G (p.Gln101Glu)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
19g.41869146C>TCA507576364RPS19c.301C>T
c.288C>T (p.Ser96=)
c.66C>T (p.Ser22=)
c.1126C>T (n.1126C>T)
c.301C>T (p.Gln101Ter)
 dbSNP gnomAD v3 gnomAD v4
19g.41869147A>CCA406030473RPS19c.289A>C (p.Lys97Gln)
c.67A>C (p.Lys23Gln)
c.1127A>C (n.1127A>C)
c.302A>C (p.Gln101Pro)
19g.41869147A>GCA406030474RPS19c.289A>G (p.Lys97Glu)
c.67A>G (p.Lys23Glu)
c.1127A>G (n.1127A>G)
c.302A>G (p.Gln101Arg)
19g.41869147A>TCA406030475RPS19c.289A>T (p.Lys97Ter)
c.67A>T (p.Lys23Ter)
c.1127A>T (n.1127A>T)
c.302A>T (p.Gln101Leu)
19g.41869148A>CCA406030477RPS19c.290A>C (p.Lys97Thr)
c.68A>C (p.Lys23Thr)
c.1128A>C (n.1128A>C)
c.303A>C (p.Gln101His)
19g.41869148A>GCA406030478RPS19c.290A>G (p.Lys97Arg)
c.68A>G (p.Lys23Arg)
c.1128A>G (n.1128A>G)
c.303A>G (p.Gln101=)
19g.41869148A>TCA406030476RPS19c.290A>T (p.Lys97Met)
c.68A>T (p.Lys23Met)
c.1128A>T (n.1128A>T)
c.303A>T (p.Gln101His)
19g.41869149_41869150insGCAGCA2695228826RPS19c.291_292insGCAG (p.Ser98AlafsTer?)
c.69_70insGCAG (p.Ser24AlafsTer?)
c.1129_1130insGCAG (n.1129_1130insGCAG)
c.304_305insGCAG (p.Glu102GlyfsTer15)
19g.41869149G>ACA507576365RPS19c.291G>A (p.Lys97=)
c.69G>A (p.Lys23=)
c.1129G>A (n.1129G>A)
c.304G>A (p.Glu102Lys)
19g.41869149G>CCA406030479RPS19c.291G>C (p.Lys97Asn)
c.69G>C (p.Lys23Asn)
c.1129G>C (n.1129G>C)
c.304G>C (p.Glu102Gln)
19g.41869149G>TCA406030480RPS19c.291G>T (p.Lys97Asn)
c.69G>T (p.Lys23Asn)
c.1129G>T (n.1129G>T)
c.304G>T (p.Glu102Ter)
19g.41869150A=CA2336668898RPS19c.292A= (p.Ser98=)
c.70A= (p.Ser24=)
c.1130A= (n.1130A=)
c.305A= (p.Glu102=)
19g.41869150A>CCA406030481RPS19c.292A>C (p.Ser98Arg)
c.70A>C (p.Ser24Arg)
c.1130A>C (n.1130A>C)
c.305A>C (p.Glu102Ala)
19g.41869150A>GCA406030482RPS19c.292A>G (p.Ser98Gly)
c.70A>G (p.Ser24Gly)
c.1130A>G (n.1130A>G)
c.305A>G (p.Glu102Gly)
19g.41869150A>TCA406030483RPS19c.292A>T (p.Ser98Cys)
c.70A>T (p.Ser24Cys)
c.1130A>T (n.1130A>T)
c.305A>T (p.Glu102Val)
19g.41869151G>ACA406030486RPS19c.293G>A (p.Ser98Asn)
c.71G>A (p.Ser24Asn)
c.1131G>A (n.1131G>A)
c.306G>A (p.Glu102=)
 dbSNP gnomAD v2 gnomAD v4
19g.41869151G>CCA406030484RPS19c.293G>C (p.Ser98Thr)
c.71G>C (p.Ser24Thr)
c.1131G>C (n.1131G>C)
c.306G>C (p.Glu102Asp)
19g.41869151G=CA2336668899RPS19c.293G= (p.Ser98=)
c.71G= (p.Ser24=)
c.1131G= (n.1131G=)
c.306G= (p.Glu102=)
19g.41869151G>TCA406030485RPS19c.293G>T (p.Ser98Ile)
c.71G>T (p.Ser24Ile)
c.1131G>T (n.1131G>T)
c.306G>T (p.Glu102Asp)
19g.41869154_41869155dupCA658656788RPS19c.296_297dup (p.Ala100TrpfsTer12)
c.74_75dup (p.Ala26TrpfsTer12)
c.1134_1135dup (n.1134_1135dup)
c.309_310dup (p.Gly104ValfsTer?)
 ClinVar dbSNP
19g.41869154_41869155delCA2580614906RPS19c.296_297del (p.Val99GlyfsTer?)
c.74_75del (p.Val25GlyfsTer?)
c.1134_1135del (n.1134_1135del)
c.309_310del (p.Cys103TrpfsTer12)
 ClinVar dbSNP
19g.41869152T>ACA308568218RPS19c.294T>A (p.Ser98Arg)
c.72T>A (p.Ser24Arg)
c.1132T>A (n.1132T>A)
c.307T>A (p.Cys103Ser)
 dbSNP
19g.41869152T>CCA507576366RPS19c.294T>C (p.Ser98=)
c.72T>C (p.Ser24=)
c.1132T>C (n.1132T>C)
c.307T>C (p.Cys103Arg)
 dbSNP
19g.41869152T>GCA406030487RPS19c.294T>G (p.Ser98Arg)
c.72T>G (p.Ser24Arg)
c.1132T>G (n.1132T>G)
c.307T>G (p.Cys103Gly)
19g.41869152T=CA2336668900RPS19c.294T= (p.Ser98=)
c.72T= (p.Ser24=)
c.1132T= (n.1132T=)
c.307T= (p.Cys103=)
19g.41869152_41869154delinsTGTCA2336668901RPS19c.294_296delinsTGT (p.Ser98=)
c.72_74delinsTGT (p.Ser24=)
c.1132_1134delinsTGT (n.1132_1134delinsTGT)
c.307_309delinsTGT (p.Cys103=)
19g.41869153G>ACA406030488RPS19c.295G>A (p.Val99Met)
c.73G>A (p.Val25Met)
c.1133G>A (n.1133G>A)
c.308G>A (p.Cys103Tyr)
19g.41869153G>CCA406030489RPS19c.295G>C (p.Val99Leu)
c.73G>C (p.Val25Leu)
c.1133G>C (n.1133G>C)
c.308G>C (p.Cys103Ser)
19g.41869153G>TCA406030490RPS19c.295G>T (p.Val99Leu)
c.73G>T (p.Val25Leu)
c.1133G>T (n.1133G>T)
c.308G>T (p.Cys103Phe)
19g.41869153_41869154delinsCAGCCGACA1139666470RPS19c.295_296delinsCAGCCGA (p.Val99GlnfsTer14)
c.73_74delinsCAGCCGA (p.Val25GlnfsTer14)
c.1133_1134delinsCAGCCGA (n.1133_1134delinsCAGCCGA)
c.308_309delinsCAGCCGA (p.Cys103SerfsTer?)
 ClinVar dbSNP
19g.41869154T>ACA406030493RPS19c.296T>A (p.Val99Glu)
c.74T>A (p.Val25Glu)
c.1134T>A (n.1134T>A)
c.309T>A (p.Cys103Ter)
19g.41869154T>CCA406030492RPS19c.296T>C (p.Val99Ala)
c.74T>C (p.Val25Ala)
c.1134T>C (n.1134T>C)
c.309T>C (p.Cys103=)
19g.41869154T>GCA406030491RPS19c.296T>G (p.Val99Gly)
c.74T>G (p.Val25Gly)
c.1134T>G (n.1134T>G)
c.309T>G (p.Cys103Trp)
19g.41869155G>ACA507576369RPS19c.297G>A (p.Val99=)
c.75G>A (p.Val25=)
c.1135G>A (n.1135G>A)
c.310G>A (p.Gly104Ser)
19g.41869155G>CCA507576368RPS19c.297G>C (p.Val99=)
c.75G>C (p.Val25=)
c.1135G>C (n.1135G>C)
c.310G>C (p.Gly104Arg)
19g.41869155G>TCA507576367RPS19c.297G>T (p.Val99=)
c.75G>T (p.Val25=)
c.1135G>T (n.1135G>T)
c.310G>T (p.Gly104Cys)
19g.41869156G>ACA406030494RPS19c.298G>A (p.Ala100Thr)
c.76G>A (p.Ala26Thr)
c.1136G>A (n.1136G>A)
c.311G>A (p.Gly104Asp)
19g.41869156G>CCA406030495RPS19c.298G>C (p.Ala100Pro)
c.76G>C (p.Ala26Pro)
c.1136G>C (n.1136G>C)
c.311G>C (p.Gly104Ala)
19g.41869156G>TCA406030496RPS19c.298G>T (p.Ala100Ser)
c.76G>T (p.Ala26Ser)
c.1136G>T (n.1136G>T)
c.311G>T (p.Gly104Val)
19g.41869160_41869177delCA2695228827RPS19c.302_319del (p.Arg101_Ala106del)
c.80_97del (p.Arg27_Ala32del)
c.1140_1157del (n.1140_1157del)
c.315_332del (p.Pro106_Pro111del)
19g.41869157C>ACA406030497RPS19c.299C>A (p.Ala100Asp)
c.77C>A (p.Ala26Asp)
c.1137C>A (n.1137C>A)
c.312C>A (p.Gly104=)
19g.41869157C>GCA406030498RPS19c.299C>G (p.Ala100Gly)
c.77C>G (p.Ala26Gly)
c.1137C>G (n.1137C>G)
c.312C>G (p.Gly104=)
19g.41869157C>TCA406030499RPS19c.299C>T (p.Ala100Val)
c.77C>T (p.Ala26Val)
c.1137C>T (n.1137C>T)
c.312C>T (p.Gly104=)
19g.41869158C>ACA507576370RPS19c.300C>A (p.Ala100=)
c.78C>A (p.Ala26=)
c.1138C>A (n.1138C>A)
c.313C>A (p.Pro105Thr)
19g.41869158C>GCA507576371RPS19c.300C>G (p.Ala100=)
c.78C>G (p.Ala26=)
c.1138C>G (n.1138C>G)
c.313C>G (p.Pro105Ala)
19g.41869158C>TCA507576372RPS19c.300C>T (p.Ala100=)
c.78C>T (p.Ala26=)
c.1138C>T (n.1138C>T)
c.313C>T (p.Pro105Ser)
 gnomAD v4
19g.41869159C>ACA406030500RPS19c.301C>A (p.Arg101Ser)
c.79C>A (p.Arg27Ser)
c.1139C>A (n.1139C>A)
c.314C>A (p.Pro105Gln)
19g.41869159C=CA2336668902RPS19c.301C= (p.Arg101=)
c.79C= (p.Arg27=)
c.1139C= (n.1139C=)
c.314C= (p.Pro105=)
19g.41869159C>GCA406030501RPS19c.301C>G (p.Arg101Gly)
c.79C>G (p.Arg27Gly)
c.1139C>G (n.1139C>G)
c.314C>G (p.Pro105Arg)
19g.41869159C>TCA9465364RPS19c.301C>T (p.Arg101Cys)
c.79C>T (p.Arg27Cys)
c.1139C>T (n.1139C>T)
c.314C>T (p.Pro105Leu)
 ClinVar dbSNP ExAC gnomAD v2
19g.41869160G>ACA406030502RPS19c.302G>A (p.Arg101His)
c.80G>A (p.Arg27His)
c.1140G>A (n.1140G>A)
c.315G>A (p.Pro105=)
 ClinVar dbSNP
19g.41869160G>CCA406030503RPS19c.302G>C (p.Arg101Pro)
c.80G>C (p.Arg27Pro)
c.1140G>C (n.1140G>C)
c.315G>C (p.Pro105=)
 ClinVar dbSNP
19g.41869160G>TCA406030504RPS19c.302G>T (p.Arg101Leu)
c.80G>T (p.Arg27Leu)
c.1140G>T (n.1140G>T)
c.315G>T (p.Pro105=)
19g.41869161C>ACA507576373RPS19c.303C>A (p.Arg101=)
c.81C>A (p.Arg27=)
c.1141C>A (n.1141C>A)
c.316C>A (p.Pro106Thr)
19g.41869161C=CA2336668903RPS19c.303C= (p.Arg101=)
c.81C= (p.Arg27=)
c.1141C= (n.1141C=)
c.316C= (p.Pro106=)
19g.41869161C>GCA507576374RPS19c.303C>G (p.Arg101=)
c.81C>G (p.Arg27=)
c.1141C>G (n.1141C>G)
c.316C>G (p.Pro106Ala)
19g.41869161C>TCA9465365RPS19c.303C>T (p.Arg101=)
c.81C>T (p.Arg27=)
c.1141C>T (n.1141C>T)
c.316C>T (p.Pro106Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.41869162delCA2695228828RPS19c.304del (p.Arg102GlyfsTer9)
c.82del (p.Arg28GlyfsTer9)
c.1142del (n.1142del)
c.317del (p.Pro106ArgfsTer?)
19g.41869162C>ACA507576375RPS19c.304C>A (p.Arg102=)
c.82C>A (p.Arg28=)
c.1142C>A (n.1142C>A)
c.317C>A (p.Pro106Gln)
19g.41869162C>GCA406030506RPS19c.304C>G (p.Arg102Gly)
c.82C>G (p.Arg28Gly)
c.1142C>G (n.1142C>G)
c.317C>G (p.Pro106Arg)
19g.41869162C>TCA406030505RPS19c.304C>T (p.Arg102Trp)
c.82C>T (p.Arg28Trp)
c.1142C>T (n.1142C>T)
c.317C>T (p.Pro106Leu)
 gnomAD v4
19g.41869162_41869163delinsCGCA2336668904RPS19c.304_305delinsCG (p.Arg102=)
c.82_83delinsCG (p.Arg28=)
c.1142_1143delinsCG (n.1142_1143delinsCG)
c.317_318delinsCG (p.Pro106=)
19g.41869163G>ACA9465366RPS19c.305G>A (p.Arg102Gln)
c.83G>A (p.Arg28Gln)
c.1143G>A (n.1143G>A)
c.318G>A (p.Pro106=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41869163G>CCA406030507RPS19c.305G>C (p.Arg102Pro)
c.83G>C (p.Arg28Pro)
c.1143G>C (n.1143G>C)
c.318G>C (p.Pro106=)
19g.41869163G=CA2336668905RPS19c.305G= (p.Arg102=)
c.83G= (p.Arg28=)
c.1143G= (n.1143G=)
c.318G= (p.Pro106=)
19g.41869163G>TCA406030508RPS19c.305G>T (p.Arg102Leu)
c.83G>T (p.Arg28Leu)
c.1143G>T (n.1143G>T)
c.318G>T (p.Pro106=)
19g.41869165delCA130768RPS19c.307del (p.Val103SerfsTer8)
c.85del (p.Val29SerfsTer8)
c.1145del (n.1145del)
c.320del (p.Gly107ValfsTer?)
 ClinVar dbSNP
19g.41869164G>ACA507576376RPS19c.306G>A (p.Arg102=)
c.84G>A (p.Arg28=)
c.1144G>A (n.1144G>A)
c.319G>A (p.Gly107Ser)
19g.41869164G>CCA507576377RPS19c.306G>C (p.Arg102=)
c.84G>C (p.Arg28=)
c.1144G>C (n.1144G>C)
c.319G>C (p.Gly107Arg)
19g.41869164G>TCA507576378RPS19c.306G>T (p.Arg102=)
c.84G>T (p.Arg28=)
c.1144G>T (n.1144G>T)
c.319G>T (p.Gly107Cys)
19g.41869165G>ACA406030510RPS19c.307G>A (p.Val103Ile)
c.85G>A (p.Val29Ile)
c.1145G>A (n.1145G>A)
c.320G>A (p.Gly107Asp)
 COSMIC
19g.41869165G>CCA406030511RPS19c.307G>C (p.Val103Leu)
c.85G>C (p.Val29Leu)
c.1145G>C (n.1145G>C)
c.320G>C (p.Gly107Ala)
19g.41869165G>TCA406030512RPS19c.307G>T (p.Val103Phe)
c.85G>T (p.Val29Phe)
c.1145G>T (n.1145G>T)
c.320G>T (p.Gly107Val)
19g.41869166T>ACA406030513RPS19c.308T>A (p.Val103Asp)
c.86T>A (p.Val29Asp)
c.1146T>A (n.1146T>A)
c.321T>A (p.Gly107=)
 ClinVar dbSNP
19g.41869166T>CCA406030514RPS19c.308T>C (p.Val103Ala)
c.86T>C (p.Val29Ala)
c.1146T>C (n.1146T>C)
c.321T>C (p.Gly107=)
19g.41869166T>GCA406030515RPS19c.308T>G (p.Val103Gly)
c.86T>G (p.Val29Gly)
c.1146T>G (n.1146T>G)
c.321T>G (p.Gly107=)
 dbSNP
19g.41869166T=CA2336668906RPS19c.308T= (p.Val103=)
c.86T= (p.Val29=)
c.1146T= (n.1146T=)
c.321T= (p.Gly107=)
19g.41869167C>ACA507576379RPS19c.309C>A (p.Val103=)
c.87C>A (p.Val29=)
c.1147C>A (n.1147C>A)
c.322C>A (p.Pro108Thr)
19g.41869167C=CA2336668907RPS19c.309C= (p.Val103=)
c.87C= (p.Val29=)
c.1147C= (n.1147C=)
c.322C= (p.Pro108=)
19g.41869167C>GCA507576380RPS19c.309C>G (p.Val103=)
c.87C>G (p.Val29=)
c.1147C>G (n.1147C>G)
c.322C>G (p.Pro108Ala)
19g.41869167C>TCA507576381RPS19c.309C>T (p.Val103=)
c.87C>T (p.Val29=)
c.1147C>T (n.1147C>T)
c.322C>T (p.Pro108Ser)
 dbSNP gnomAD v4 COSMIC
19g.41869168C>ACA406030516RPS19c.310C>A (p.Leu104Ile)
c.88C>A (p.Leu30Ile)
c.1148C>A (n.1148C>A)
c.323C>A (p.Pro108His)
 COSMIC
19g.41869168C>GCA406030517RPS19c.310C>G (p.Leu104Val)
c.88C>G (p.Leu30Val)
c.1148C>G (n.1148C>G)
c.323C>G (p.Pro108Arg)
 gnomAD v4
19g.41869168C>TCA406030518RPS19c.310C>T (p.Leu104Phe)
c.88C>T (p.Leu30Phe)
c.1148C>T (n.1148C>T)
c.323C>T (p.Pro108Leu)
19g.41869169T>ACA406030521RPS19c.311T>A (p.Leu104His)
c.89T>A (p.Leu30His)
c.1149T>A (n.1149T>A)
c.324T>A (p.Pro108=)
19g.41869169T>CCA406030520RPS19c.311T>C (p.Leu104Pro)
c.89T>C (p.Leu30Pro)
c.1149T>C (n.1149T>C)
c.324T>C (p.Pro108=)
19g.41869169T>GCA406030519RPS19c.311T>G (p.Leu104Arg)
c.89T>G (p.Leu30Arg)
c.1149T>G (n.1149T>G)
c.324T>G (p.Pro108=)
19g.41869170C>ACA507576384RPS19c.312C>A (p.Leu104=)
c.90C>A (p.Leu30=)
c.1150C>A (n.1150C>A)
c.325C>A (p.Pro109Thr)
19g.41869170C=CA2336668908RPS19c.312C= (p.Leu104=)
c.90C= (p.Leu30=)
c.1150C= (n.1150C=)
c.325C= (p.Pro109=)
19g.41869170C>GCA507576382RPS19c.312C>G (p.Leu104=)
c.90C>G (p.Leu30=)
c.1150C>G (n.1150C>G)
c.325C>G (p.Pro109Ala)
19g.41869170C>TCA507576383RPS19c.312C>T (p.Leu104=)
c.90C>T (p.Leu30=)
c.1150C>T (n.1150C>T)
c.325C>T (p.Pro109Ser)
 dbSNP gnomAD v3 gnomAD v4
19g.41869171C>ACA406030522RPS19c.313C>A (p.Gln105Lys)
c.91C>A (p.Gln31Lys)
c.1151C>A (n.1151C>A)
c.326C>A (p.Pro109Gln)
 gnomAD v4
19g.41869171C>GCA406030524RPS19c.313C>G (p.Gln105Glu)
c.91C>G (p.Gln31Glu)
c.1151C>G (n.1151C>G)
c.326C>G (p.Pro109Arg)
19g.41869171C>TCA406030523RPS19c.313C>T (p.Gln105Ter)
c.91C>T (p.Gln31Ter)
c.1151C>T (n.1151C>T)
c.326C>T (p.Pro109Leu)
19g.41869172A=CA2336668909RPS19c.314A= (p.Gln105=)
c.92A= (p.Gln31=)
c.1152A= (n.1152A=)
c.327A= (p.Pro109=)
19g.41869172A>CCA406030525RPS19c.314A>C (p.Gln105Pro)
c.92A>C (p.Gln31Pro)
c.1152A>C (n.1152A>C)
c.327A>C (p.Pro109=)
19g.41869172A>GCA9465367RPS19c.314A>G (p.Gln105Arg)
c.92A>G (p.Gln31Arg)
c.1152A>G (n.1152A>G)
c.327A>G (p.Pro109=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41869172A>TCA406030526RPS19c.314A>T (p.Gln105Leu)
c.92A>T (p.Gln31Leu)
c.1152A>T (n.1152A>T)
c.327A>T (p.Pro109=)
19g.41869173A>CCA406030527RPS19c.315A>C (p.Gln105His)
c.93A>C (p.Gln31His)
c.1153A>C (n.1153A>C)
c.328A>C (p.Ser110Arg)
19g.41869173A>GCA507576385RPS19c.315A>G (p.Gln105=)
c.93A>G (p.Gln31=)
c.1153A>G (n.1153A>G)
c.328A>G (p.Ser110Gly)
19g.41869173A>TCA406030528RPS19c.315A>T (p.Gln105His)
c.93A>T (p.Gln31His)
c.1153A>T (n.1153A>T)
c.328A>T (p.Ser110Cys)
19g.41869174delCA2573332762RPS19c.316del (p.Ala106ProfsTer5)
c.94del (p.Ala32ProfsTer5)
c.1154del (n.1154del)
c.329del (p.Ser110ThrfsTer?)
 ClinVar
19g.41869174G>ACA9465368RPS19c.316G>A (p.Ala106Thr)
c.94G>A (p.Ala32Thr)
c.1154G>A (n.1154G>A)
c.329G>A (p.Ser110Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41869174G>CCA406030529RPS19c.316G>C (p.Ala106Pro)
c.94G>C (p.Ala32Pro)
c.1154G>C (n.1154G>C)
c.329G>C (p.Ser110Thr)
19g.41869174G=CA2336668910RPS19c.316G= (p.Ala106=)
c.94G= (p.Ala32=)
c.1154G= (n.1154G=)
c.329G= (p.Ser110=)
19g.41869174G>TCA406030530RPS19c.316G>T (p.Ala106Ser)
c.94G>T (p.Ala32Ser)
c.1154G>T (n.1154G>T)
c.329G>T (p.Ser110Ile)
19g.41869175C>ACA406030531RPS19c.317C>A (p.Ala106Asp)
c.95C>A (p.Ala32Asp)
c.1155C>A (n.1155C>A)
c.330C>A (p.Ser110Arg)
19g.41869175C=CA2336668911RPS19c.317C= (p.Ala106=)
c.95C= (p.Ala32=)
c.1155C= (n.1155C=)
c.330C= (p.Ser110=)
19g.41869175C>GCA406030532RPS19c.317C>G (p.Ala106Gly)
c.95C>G (p.Ala32Gly)
c.1155C>G (n.1155C>G)
c.330C>G (p.Ser110Arg)
19g.41869175C>TCA406030533RPS19c.317C>T (p.Ala106Val)
c.95C>T (p.Ala32Val)
c.1155C>T (n.1155C>T)
c.330C>T (p.Ser110=)
 ClinVar dbSNP gnomAD v4
19g.41869176C>ACA507576386RPS19c.318C>A (p.Ala106=)
c.96C>A (p.Ala32=)
c.1156C>A (n.1156C>A)
c.331C>A (p.Pro111Thr)
19g.41869176C>GCA507576388RPS19c.318C>G (p.Ala106=)
c.96C>G (p.Ala32=)
c.1156C>G (n.1156C>G)
c.331C>G (p.Pro111Ala)
19g.41869176C>TCA507576387RPS19c.318C>T (p.Ala106=)
c.96C>T (p.Ala32=)
c.1156C>T (n.1156C>T)
c.331C>T (p.Pro111Ser)
 gnomAD v4
19g.41869177C>ACA406030534RPS19c.319C>A (p.Leu107Met)
c.97C>A (p.Leu33Met)
c.1157C>A (n.1157C>A)
c.332C>A (p.Pro111His)
19g.41869177C=CA2336668912RPS19c.319C= (p.Leu107=)
c.97C= (p.Leu33=)
c.1157C= (n.1157C=)
c.332C= (p.Pro111=)
19g.41869177C>GCA406030535RPS19c.319C>G (p.Leu107Val)
c.97C>G (p.Leu33Val)
c.1157C>G (n.1157C>G)
c.332C>G (p.Pro111Arg)
19g.41869177C>TCA507576389RPS19c.319C>T (p.Leu107=)
c.97C>T (p.Leu33=)
c.1157C>T (n.1157C>T)
c.332C>T (p.Pro111Leu)
 dbSNP
19g.41869178T>ACA406030538RPS19c.320T>A (p.Leu107Gln)
c.98T>A (p.Leu33Gln)
c.1158T>A (n.1158T>A)
c.333T>A (p.Pro111=)
19g.41869178T>CCA406030536RPS19c.320T>C (p.Leu107Pro)
c.98T>C (p.Leu33Pro)
c.1158T>C (n.1158T>C)
c.333T>C (p.Pro111=)
 ClinVar
19g.41869178T>GCA406030537RPS19c.320T>G (p.Leu107Arg)
c.98T>G (p.Leu33Arg)
c.1158T>G (n.1158T>G)
c.333T>G (p.Pro111=)
19g.41869179G>ACA507576390RPS19c.321G>A (p.Leu107=)
c.99G>A (p.Leu33=)
c.1159G>A (n.1159G>A)
c.334G>A (p.Gly112Arg)
19g.41869179G>CCA507576391RPS19c.321G>C (p.Leu107=)
c.99G>C (p.Leu33=)
c.1159G>C (n.1159G>C)
c.334G>C (p.Gly112Arg)
19g.41869179G>TCA507576392RPS19c.321G>T (p.Leu107=)
c.99G>T (p.Leu33=)
c.1159G>T (n.1159G>T)
c.334G>T (p.Gly112Ter)
19g.41869180G>ACA406030539RPS19c.322G>A (p.Glu108Lys)
c.100G>A (p.Glu34Lys)
c.1160G>A (n.1160G>A)
c.335G>A (p.Gly112Glu)
19g.41869180G>CCA406030540RPS19c.322G>C (p.Glu108Gln)
c.100G>C (p.Glu34Gln)
c.1160G>C (n.1160G>C)
c.335G>C (p.Gly112Ala)
19g.41869180G>TCA406030541RPS19c.322G>T (p.Glu108Ter)
c.100G>T (p.Glu34Ter)
c.1160G>T (n.1160G>T)
c.335G>T (p.Gly112Val)
19g.41869181A>CCA406030542RPS19c.323A>C (p.Glu108Ala)
c.101A>C (p.Glu34Ala)
c.1161A>C (n.1161A>C)
c.336A>C (p.Gly112=)
19g.41869181A>GCA406030543RPS19c.323A>G (p.Glu108Gly)
c.101A>G (p.Glu34Gly)
c.1161A>G (n.1161A>G)
c.336A>G (p.Gly112=)
19g.41869181A>TCA406030544RPS19c.323A>T (p.Glu108Val)
c.101A>T (p.Glu34Val)
c.1161A>T (n.1161A>T)
c.336A>T (p.Gly112=)
19g.41869182G>ACA9465369RPS19c.324G>A (p.Glu108=)
c.102G>A (p.Glu34=)
c.1162G>A (n.1162G>A)
c.337G>A (p.Gly113Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41869182G>CCA406030545RPS19c.324G>C (p.Glu108Asp)
c.102G>C (p.Glu34Asp)
c.1162G>C (n.1162G>C)
c.337G>C (p.Gly113Arg)
19g.41869182G=CA2336668913RPS19c.324G= (p.Glu108=)
c.102G= (p.Glu34=)
c.1162G= (n.1162G=)
c.337G= (p.Gly113=)
19g.41869182G>TCA406030546RPS19c.324G>T (p.Glu108Asp)
c.102G>T (p.Glu34Asp)
c.1162G>T (n.1162G>T)
c.337G>T (p.Gly113Trp)
19g.41869183G>ACA406030547RPS19c.325G>A (p.Gly109Arg)
c.103G>A (p.Gly35Arg)
c.1163G>A (n.1163G>A)
c.338G>A (p.Gly113Glu)
19g.41869183G>CCA406030548RPS19c.325G>C (p.Gly109Arg)
c.103G>C (p.Gly35Arg)
c.1163G>C (n.1163G>C)
c.338G>C (p.Gly113Ala)
19g.41869183G>TCA406030549RPS19c.325G>T (p.Gly109Trp)
c.103G>T (p.Gly35Trp)
c.1163G>T (n.1163G>T)
c.338G>T (p.Gly113Val)
19g.41869184G>ACA406030550RPS19c.326G>A (p.Gly109Glu)
c.104G>A (p.Gly35Glu)
c.1164G>A (n.1164G>A)
c.339G>A (p.Gly113=)
19g.41869184G>CCA406030552RPS19c.326G>C (p.Gly109Ala)
c.104G>C (p.Gly35Ala)
c.1164G>C (n.1164G>C)
c.339G>C (p.Gly113=)
19g.41869184G>TCA406030551RPS19c.326G>T (p.Gly109Val)
c.104G>T (p.Gly35Val)
c.1164G>T (n.1164G>T)
c.339G>T (p.Gly113=)
19g.41869185G>ACA507576393RPS19c.327G>A (p.Gly109=)
c.105G>A (p.Gly35=)
c.1165G>A (n.1165G>A)
c.340G>A (p.Ala114Thr)
19g.41869185G>CCA507576394RPS19c.327G>C (p.Gly109=)
c.105G>C (p.Gly35=)
c.1165G>C (n.1165G>C)
c.340G>C (p.Ala114Pro)
19g.41869185G=CA2336668914RPS19c.327G= (p.Gly109=)
c.105G= (p.Gly35=)
c.1165G= (n.1165G=)
c.340G= (p.Ala114=)
19g.41869185G>TCA507576395RPS19c.327G>T (p.Gly109=)
c.105G>T (p.Gly35=)
c.1165G>T (n.1165G>T)
c.340G>T (p.Ala114Ser)
 dbSNP gnomAD v2 gnomAD v4
19g.41869186delCA2695228829RPS19c.328del (p.Leu110Ter)
c.106del (p.Leu36Ter)
c.1166del (n.1166del)
c.341del (p.Ala114ValfsTer?)
19g.41869186C>ACA406030553RPS19c.328C>A (p.Leu110Met)
c.106C>A (p.Leu36Met)
c.1166C>A (n.1166C>A)
c.341C>A (p.Ala114Asp)
19g.41869186C=CA2336668915RPS19c.328C= (p.Leu110=)
c.106C= (p.Leu36=)
c.1166C= (n.1166C=)
c.341C= (p.Ala114=)
19g.41869186C>GCA406030554RPS19c.328C>G (p.Leu110Val)
c.106C>G (p.Leu36Val)
c.1166C>G (n.1166C>G)
c.341C>G (p.Ala114Gly)
 ClinVar
19g.41869186C>TCA507576396RPS19c.328C>T (p.Leu110=)
c.106C>T (p.Leu36=)
c.1166C>T (n.1166C>T)
c.341C>T (p.Ala114Val)
 dbSNP gnomAD v2 gnomAD v4
19g.41869187T>ACA406030555RPS19c.329T>A (p.Leu110Gln)
c.107T>A (p.Leu36Gln)
c.1167T>A (n.1167T>A)
c.342T>A (p.Ala114=)
19g.41869187T>CCA406030556RPS19c.329T>C (p.Leu110Pro)
c.107T>C (p.Leu36Pro)
c.1167T>C (n.1167T>C)
c.342T>C (p.Ala114=)
19g.41869187T>GCA406030557RPS19c.329T>G (p.Leu110Arg)
c.107T>G (p.Leu36Arg)
c.1167T>G (n.1167T>G)
c.342T>G (p.Ala114=)
19g.41869188G>ACA507576397RPS19c.330G>A (p.Leu110=)
c.108G>A (p.Leu36=)
c.1168G>A (n.1168G>A)
c.343G>A (p.Glu115Lys)
 ClinVar dbSNP
19g.41869188G>CCA507576398RPS19c.330G>C (p.Leu110=)
c.108G>C (p.Leu36=)
c.1168G>C (n.1168G>C)
c.343G>C (p.Glu115Gln)
19g.41869188G>TCA507576399RPS19c.330G>T (p.Leu110=)
c.108G>T (p.Leu36=)
c.1168G>T (n.1168G>T)
c.343G>T (p.Glu115Ter)
19g.41869189A>CCA406030558RPS19c.331A>C (p.Lys111Gln)
c.109A>C (p.Lys37Gln)
c.1169A>C (n.1169A>C)
c.344A>C (p.Glu115Ala)
 gnomAD v4
19g.41869189A>GCA406030559RPS19c.331A>G (p.Lys111Glu)
c.109A>G (p.Lys37Glu)
c.1169A>G (n.1169A>G)
c.344A>G (p.Glu115Gly)
19g.41869189A>TCA406030560RPS19c.331A>T (p.Lys111Ter)
c.109A>T (p.Lys37Ter)
c.1169A>T (n.1169A>T)
c.344A>T (p.Glu115Val)
19g.41869192dupCA2695228830RPS19c.334dup (p.Met112AsnfsTer?)
c.112dup (p.Met38AsnfsTer?)
c.347dup (p.Asn116LysfsTer13)
19g.41869190A>CCA406030561RPS19c.332A>C (p.Lys111Thr)
c.110A>C (p.Lys37Thr)
c.1170A>C (n.1170A>C)
c.345A>C (p.Glu115Asp)
 gnomAD v4
19g.41869190A>GCA406030562RPS19c.332A>G (p.Lys111Arg)
c.110A>G (p.Lys37Arg)
c.1170A>G (n.1170A>G)
c.345A>G (p.Glu115=)
19g.41869190A>TCA406030563RPS19c.332A>T (p.Lys111Ile)
c.110A>T (p.Lys37Ile)
c.1170A>T (n.1170A>T)
c.345A>T (p.Glu115Asp)
19g.41869191A=CA2336668916RPS19c.333A= (p.Lys111=)
c.111A= (p.Lys37=)
c.1171A= (n.1171A=)
c.346A= (p.Asn116=)
19g.41869191A>CCA406030565RPS19c.333A>C (p.Lys111Asn)
c.111A>C (p.Lys37Asn)
c.1171A>C (n.1171A>C)
c.346A>C (p.Asn116His)
19g.41869191A>GCA9465370RPS19c.333A>G (p.Lys111=)
c.111A>G (p.Lys37=)
c.1171A>G (n.1171A>G)
c.346A>G (p.Asn116Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41869191A>TCA406030564RPS19c.333A>T (p.Lys111Asn)
c.111A>T (p.Lys37Asn)
c.1171A>T (n.1171A>T)
c.346A>T (p.Asn116Tyr)
19g.41869192A>CCA406030566RPS19c.334A>C (p.Met112Leu)
c.112A>C (p.Met38Leu)
c.1172A>C (n.1172A>C)
c.347A>C (p.Asn116Thr)
19g.41869192A>GCA406030567RPS19c.334A>G (p.Met112Val)
c.112A>G (p.Met38Val)
c.1172A>G (n.1172A>G)
c.347A>G (p.Asn116Ser)
19g.41869192A>TCA406030569RPS19c.334A>T (p.Met112Leu)
c.112A>T (p.Met38Leu)
c.1172A>T (n.1172A>T)
c.347A>T (p.Asn116Ile)
19g.41869192_41869195delinsATGGCA2336668917RPS19c.334_337delinsATGG (p.Met112=)
c.112_115delinsATGG (p.Met38=)
c.347_350delinsATGG (p.Asn116=)
19g.41869193T>ACA406030570RPS19c.335T>A (p.Met112Lys)
c.113T>A (p.Met38Lys)
c.348T>A (p.Asn116Lys)
19g.41869193T>CCA406030571RPS19c.335T>C (p.Met112Thr)
c.113T>C (p.Met38Thr)
c.348T>C (p.Asn116=)
19g.41869193T>GCA406030572RPS19c.335T>G (p.Met112Arg)
c.113T>G (p.Met38Arg)
c.348T>G (p.Asn116Lys)
19g.41869196_41869198delCA16620855RPS19c.338_340del (p.Val113del)
c.116_118del (p.Val39del)
c.351_353del (p.Gly118del)
 ClinVar dbSNP
19g.41869194G>ACA406030573RPS19c.336G>A (p.Met112Ile)
c.114G>A (p.Met38Ile)
c.349G>A (p.Gly117Ser)
 gnomAD v4
19g.41869194G>CCA406030574RPS19c.336G>C (p.Met112Ile)
c.114G>C (p.Met38Ile)
c.349G>C (p.Gly117Arg)
19g.41869194G>TCA406030575RPS19c.336G>T (p.Met112Ile)
c.114G>T (p.Met38Ile)
c.349G>T (p.Gly117Cys)
 gnomAD v4
19g.41869195delCA2814447565RPS19c.337del (p.Val113TrpfsTer11)
c.115del (p.Val39TrpfsTer11)
c.350del (p.Gly117ValfsTer?)
19g.41869195G>ACA406030576RPS19c.337G>A (p.Val113Met)
c.115G>A (p.Val39Met)
c.350G>A (p.Gly117Asp)
 dbSNP
19g.41869195G>CCA406030577RPS19c.337G>C (p.Val113Leu)
c.115G>C (p.Val39Leu)
c.350G>C (p.Gly117Ala)
19g.41869195G=CA2336668918RPS19c.337G= (p.Val113=)
c.115G= (p.Val39=)
c.350G= (p.Gly117=)
19g.41869195G>TCA406030578RPS19c.337G>T (p.Val113Leu)
c.115G>T (p.Val39Leu)
c.350G>T (p.Gly117Val)
19g.41869196T>ACA406030580RPS19c.338T>A (p.Val113Glu)
c.116T>A (p.Val39Glu)
c.351T>A (p.Gly117=)
19g.41869196T>CCA406030582RPS19c.338T>C (p.Val113Ala)
c.116T>C (p.Val39Ala)
c.351T>C (p.Gly117=)
19g.41869196T>GCA406030579RPS19c.338T>G (p.Val113Gly)
c.116T>G (p.Val39Gly)
c.351T>G (p.Gly117=)
 dbSNP
19g.41869196T=CA2336668919RPS19c.338T= (p.Val113=)
c.116T= (p.Val39=)
c.351T= (p.Gly117=)
19g.41869197G>ACA507576400RPS19c.339G>A (p.Val113=)
c.117G>A (p.Val39=)
c.352G>A (p.Gly118Arg)
 gnomAD v4
19g.41869197G>CCA507576401RPS19c.339G>C (p.Val113=)
c.117G>C (p.Val39=)
c.352G>C (p.Gly118Arg)
19g.41869197G>TCA507576402RPS19c.339G>T (p.Val113=)
c.117G>T (p.Val39=)
c.352G>T (p.Gly118Ter)
19g.41869198G>ACA406030585RPS19c.340G>A (p.Glu114Lys)
c.118G>A (p.Glu40Lys)
c.353G>A (p.Gly118Glu)
19g.41869198G>CCA406030583RPS19c.340G>C (p.Glu114Gln)
c.118G>C (p.Glu40Gln)
c.353G>C (p.Gly118Ala)
19g.41869198G>TCA406030584RPS19c.340G>T (p.Glu114Ter)
c.118G>T (p.Glu40Ter)
c.353G>T (p.Gly118Val)
19g.41869198_41869199delinsGACA2336668920RPS19c.340_341delinsGA (p.Glu114=)
c.118_119delinsGA (p.Glu40=)
c.353_354delinsGA (p.Gly118=)
19g.41869199A>CCA406030586RPS19c.341A>C (p.Glu114Ala)
c.119A>C (p.Glu40Ala)
c.354A>C (p.Gly118=)
19g.41869199A>GCA406030587RPS19c.341A>G (p.Glu114Gly)
c.119A>G (p.Glu40Gly)
c.354A>G (p.Gly118=)
19g.41869199A>TCA406030588RPS19c.341A>T (p.Glu114Val)
c.119A>T (p.Glu40Val)
c.354A>T (p.Gly118=)
19g.41869201_41869202dupCA2695228831RPS19c.343_344dup (p.Asp116ArgfsTer9)
c.121_122dup (p.Asp42ArgfsTer9)
c.356_357dup (p.Gly120LysfsTer?)
19g.41869202delCA633185009RPS19c.344del (p.Lys115ArgfsTer9)
c.122del (p.Lys41ArgfsTer9)
c.357del (p.Gly120AspfsTer?)
 dbSNP gnomAD v2 gnomAD v4
19g.41869200A>CCA406030589RPS19c.342A>C (p.Glu114Asp)
c.120A>C (p.Glu40Asp)
c.355A>C (p.Lys119Gln)
 gnomAD v4
19g.41869200A>GCA507576403RPS19c.342A>G (p.Glu114=)
c.120A>G (p.Glu40=)
c.355A>G (p.Lys119Glu)
 ClinVar
19g.41869200A>TCA406030590RPS19c.342A>T (p.Glu114Asp)
c.120A>T (p.Glu40Asp)
c.355A>T (p.Lys119Ter)
19g.41869201A>CCA406030591RPS19c.343A>C (p.Lys115Gln)
c.121A>C (p.Lys41Gln)
c.356A>C (p.Lys119Thr)
19g.41869201A>GCA406030592RPS19c.343A>G (p.Lys115Glu)
c.121A>G (p.Lys41Glu)
c.356A>G (p.Lys119Arg)
19g.41869201A>TCA406030593RPS19c.343A>T (p.Lys115Ter)
c.121A>T (p.Lys41Ter)
c.356A>T (p.Lys119Ile)
19g.41869202A>CCA406030594RPS19c.344A>C (p.Lys115Thr)
c.122A>C (p.Lys41Thr)
c.357A>C (p.Lys119Asn)
19g.41869202A>GCA406030595RPS19c.344A>G (p.Lys115Arg)
c.122A>G (p.Lys41Arg)
c.357A>G (p.Lys119=)
 gnomAD v4
19g.41869202A>TCA406030596RPS19c.344A>T (p.Lys115Met)
c.122A>T (p.Lys41Met)
c.357A>T (p.Lys119Asn)
19g.41869203G>ACA507576404RPS19c.345G>A (p.Lys115=)
c.123G>A (p.Lys41=)
c.358G>A (p.Gly120Arg)
 dbSNP gnomAD v4
19g.41869203G>CCA406030598RPS19c.345G>C (p.Lys115Asn)
c.123G>C (p.Lys41Asn)
c.358G>C (p.Gly120Arg)
19g.41869203G=CA2336668921RPS19c.345G= (p.Lys115=)
c.123G= (p.Lys41=)
c.358G= (p.Gly120=)
19g.41869203G>TCA406030597RPS19c.345G>T (p.Lys115Asn)
c.123G>T (p.Lys41Asn)
c.358G>T (p.Gly120Ter)
 gnomAD v4
19g.41869204G>ACA406030599RPS19c.346G>A (p.Asp116Asn)
c.124G>A (p.Asp42Asn)
c.359G>A (p.Gly120Glu)
19g.41869204G>CCA406030600RPS19c.346G>C (p.Asp116His)
c.124G>C (p.Asp42His)
c.359G>C (p.Gly120Ala)
19g.41869204G>TCA406030601RPS19c.346G>T (p.Asp116Tyr)
c.124G>T (p.Asp42Tyr)
c.359G>T (p.Gly120Val)
19g.41869205delCA2580097300RPS19c.347del (p.Asp116AlafsTer8)
c.125del (p.Asp42AlafsTer8)
c.360del (p.Pro121GlnfsTer?)
 ClinVar
19g.41869205A=CA2336668922RPS19c.347A= (p.Asp116=)
c.125A= (p.Asp42=)
c.360A= (p.Gly120=)
19g.41869205A>CCA406030602RPS19c.347A>C (p.Asp116Ala)
c.125A>C (p.Asp42Ala)
c.360A>C (p.Gly120=)
19g.41869205A>GCA406030603RPS19c.347A>G (p.Asp116Gly)
c.125A>G (p.Asp42Gly)
c.360A>G (p.Gly120=)
 dbSNP gnomAD v2 gnomAD v4
19g.41869205A>TCA406030604RPS19c.347A>T (p.Asp116Val)
c.125A>T (p.Asp42Val)
c.360A>T (p.Gly120=)
19g.41869206C>ACA406030605RPS19c.348C>A (p.Asp116Glu)
c.126C>A (p.Asp42Glu)
c.361C>A (p.Pro121Thr)
19g.41869206C>GCA406030606RPS19c.348C>G (p.Asp116Glu)
c.126C>G (p.Asp42Glu)
c.361C>G (p.Pro121Ala)
19g.41869206C>TCA507576405RPS19c.348C>T (p.Asp116=)
c.126C>T (p.Asp42=)
c.361C>T (p.Pro121Ser)
 gnomAD v4
19g.41869207C>ACA406030607RPS19c.349C>A (p.Gln117Lys)
c.127C>A (p.Gln43Lys)
c.362C>A (p.Pro121Gln)
19g.41869207C=CA2336668923RPS19c.349C= (p.Gln117=)
c.127C= (p.Gln43=)
c.362C= (p.Pro121=)
19g.41869207C>GCA406030608RPS19c.349C>G (p.Gln117Glu)
c.127C>G (p.Gln43Glu)
c.362C>G (p.Pro121Arg)
 dbSNP
19g.41869207C>TCA406030609RPS19c.349C>T (p.Gln117Ter)
c.127C>T (p.Gln43Ter)
c.362C>T (p.Pro121Leu)
19g.41869208A>CCA406030610RPS19c.350A>C (p.Gln117Pro)
c.128A>C (p.Gln43Pro)
c.363A>C (p.Pro121=)
19g.41869208A>GCA406030611RPS19c.350A>G (p.Gln117Arg)
c.128A>G (p.Gln43Arg)
c.363A>G (p.Pro121=)
19g.41869208A>TCA406030612RPS19c.350A>T (p.Gln117Leu)
c.128A>T (p.Gln43Leu)
c.363A>T (p.Pro121=)
19g.41869209A>CCA406030613RPS19c.351A>C (p.Gln117His)
c.129A>C (p.Gln43His)
c.364A>C (p.Arg122=)
19g.41869209A>GCA507576406RPS19c.351A>G (p.Gln117=)
c.129A>G (p.Gln43=)
c.364A>G (p.Arg122Gly)
 ClinVar COSMIC
19g.41869209A>TCA406030614RPS19c.351A>T (p.Gln117His)
c.129A>T (p.Gln43His)
c.364A>T (p.Arg122Ter)
 gnomAD v4
19g.41869210G>ACA406030615RPS19c.352G>A (p.Asp118Asn)
c.130G>A (p.Asp44Asn)
c.365G>A (p.Arg122Lys)
 COSMIC
19g.41869210G>CCA406030616RPS19c.352G>C (p.Asp118His)
c.130G>C (p.Asp44His)
c.365G>C (p.Arg122Thr)
19g.41869210G>TCA406030617RPS19c.352G>T (p.Asp118Tyr)
c.130G>T (p.Asp44Tyr)
c.365G>T (p.Arg122Ile)
19g.41869211A>CCA406030618RPS19c.353A>C (p.Asp118Ala)
c.131A>C (p.Asp44Ala)
c.366A>C (p.Arg122Ser)
19g.41869211A>GCA406030619RPS19c.353A>G (p.Asp118Gly)
c.131A>G (p.Asp44Gly)
c.366A>G (p.Arg122=)
 ClinVar
19g.41869211A>TCA406030620RPS19c.353A>T (p.Asp118Val)
c.131A>T (p.Asp44Val)
c.366A>T (p.Arg122Ser)
19g.41869212T>ACA9465371RPS19c.354T>A (p.Asp118Glu)
c.132T>A (p.Asp44Glu)
c.367T>A (p.Trp123Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41869212T>CCA507576407RPS19c.354T>C (p.Asp118=)
c.132T>C (p.Asp44=)
c.367T>C (p.Trp123Arg)
19g.41869212T>GCA406030621RPS19c.354T>G (p.Asp118Glu)
c.132T>G (p.Asp44Glu)
c.367T>G (p.Trp123Gly)
19g.41869212T=CA2336668924RPS19c.354T= (p.Asp118=)
c.132T= (p.Asp44=)
c.367T= (p.Trp123=)
19g.41869213G>ACA406030622RPS19c.355G>A (p.Gly119Ser)
c.133G>A (p.Gly45Ser)
c.368G>A (p.Trp123Ter)
19g.41869213G>CCA406030623RPS19c.355G>C (p.Gly119Arg)
c.133G>C (p.Gly45Arg)
c.368G>C (p.Trp123Ser)
19g.41869213G>TCA406030624RPS19c.355G>T (p.Gly119Cys)
c.133G>T (p.Gly45Cys)
c.368G>T (p.Trp123Leu)
19g.41869215dupCA2695228832RPS19c.356+1dup
c.134+1dup
c.369+1dup
19g.41869214G>ACA406030625RPS19c.356G>A (p.Gly119Asp)
c.134G>A (p.Gly45Asp)
c.369G>A (p.Trp123Ter)
 gnomAD v4
19g.41869214G>CCA406030626RPS19c.356G>C (p.Gly119Ala)
c.134G>C (p.Gly45Ala)
c.369G>C (p.Trp123Cys)
19g.41869214G>TCA406030627RPS19c.356G>T (p.Gly119Val)
c.134G>T (p.Gly45Val)
c.369G>T (p.Trp123Cys)
 gnomAD v4
19g.41869214_41869215insCGGCCCA2585348955RPS19c.356_356+1insCGGCC (n.356_356+1insCGGCC)
c.134_134+1insCGGCC (n.134_134+1insCGGCC)
c.369_369+1insCGGCC (n.369_369+1insCGGCC)
 gnomAD v4
19g.41869214_41869215insCGGCCGCAAACTGACACCTCAGGGACAAACA2735985752RPS19c.356_356+1insCGGCCGCAAACTGACACCTCAGGGACAAA (n.356_356+1insCGGCCGCAAACTGACACCTCAGGGACAAA)
c.134_134+1insCGGCCGCAAACTGACACCTCAGGGACAAA (n.134_134+1insCGGCCGCAAACTGACACCTCAGGGACAAA)
c.369_369+1insCGGCCGCAAACTGACACCTCAGGGACAAA (n.369_369+1insCGGCCGCAAACTGACACCTCAGGGACAAA)
 dbSNP
19g.41869215G>ACA406030628RPS19c.356+1G>A (n.356+1G>A)
c.134+1G>A (n.134+1G>A)
c.369+1G>A (n.369+1G>A)
 ClinVar dbSNP
19g.41869215G>CCA406030630RPS19c.356+1G>C (n.356+1G>C)
c.134+1G>C (n.134+1G>C)
c.369+1G>C (n.369+1G>C)
 dbSNP
19g.41869215G=CA2336668925RPS19c.356+1G= (n.356+1G=)
c.134+1G= (n.134+1G=)
c.369+1G= (n.369+1G=)
19g.41869215G>TCA406030629RPS19c.356+1G>T (n.356+1G>T)
c.134+1G>T (n.134+1G>T)
c.369+1G>T (n.369+1G>T)
19g.41869216T>ACA406030631RPS19c.356+2T>A (n.356+2T>A)
c.134+2T>A (n.134+2T>A)
c.369+2T>A (n.369+2T>A)
19g.41869216T>CCA406030632RPS19c.356+2T>C (n.356+2T>C)
c.134+2T>C (n.134+2T>C)
c.369+2T>C (n.369+2T>C)
 gnomAD v4
19g.41869216T>GCA406030633RPS19c.356+2T>G (n.356+2T>G)
c.134+2T>G (n.134+2T>G)
c.369+2T>G (n.369+2T>G)
19g.41869217A=CA2336668926RPS19c.356+3A= (n.356+3A=)
c.134+3A= (n.134+3A=)
c.369+3A= (n.369+3A=)
19g.41869217A>CCA645372649RPS19c.356+3A>C (n.356+3A>C)
c.134+3A>C (n.134+3A>C)
c.369+3A>C (n.369+3A>C)
 ClinVar dbSNP
19g.41869219G>ACA2739276842RPS19c.356+5G>A (n.356+5G>A)
c.134+5G>A (n.134+5G>A)
c.369+5G>A (n.369+5G>A)
 ClinVar
19g.41869220C>ACA2585348956RPS19c.356+6C>A (n.356+6C>A)
c.134+6C>A (n.134+6C>A)
c.369+6C>A (n.369+6C>A)
 gnomAD v4
19g.41869220C>TCA2585348957RPS19c.356+6C>T (n.356+6C>T)
c.134+6C>T (n.134+6C>T)
c.369+6C>T (n.369+6C>T)
 gnomAD v4
19g.41869221delCA2576795726RPS19c.356+7del (n.356+7del)
c.134+7del (n.134+7del)
c.369+7del (n.369+7del)
19g.41869222G>ACA2585348959RPS19c.356+8G>A (n.356+8G>A)
c.134+8G>A (n.134+8G>A)
c.369+8G>A (n.369+8G>A)
 gnomAD v4
19g.41869222G>TCA2585348960RPS19c.356+8G>T (n.356+8G>T)
c.134+8G>T (n.134+8G>T)
c.369+8G>T (n.369+8G>T)
 gnomAD v4
19g.41869224delCA2585348958RPS19c.356+10del (n.356+10del)
c.134+10del (n.134+10del)
c.369+10del (n.369+10del)
 gnomAD v4
19g.41869223G>ACA308568318RPS19c.356+9G>A (n.356+9G>A)
c.134+9G>A (n.134+9G>A)
c.369+9G>A (n.369+9G>A)
 dbSNP gnomAD v3 gnomAD v4
19g.41869223G=CA2336668927RPS19c.356+9G= (n.356+9G=)
c.134+9G= (n.134+9G=)
c.369+9G= (n.369+9G=)
19g.41869223G>TCA2585348961RPS19c.356+9G>T (n.356+9G>T)
c.134+9G>T (n.134+9G>T)
c.369+9G>T (n.369+9G>T)
 gnomAD v4
19g.41869224G>ACA9465372RPS19c.356+10G>A (n.356+10G>A)
c.134+10G>A (n.134+10G>A)
c.369+10G>A (n.369+10G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41869224G=CA2336668928RPS19c.356+10G= (n.356+10G=)
c.134+10G= (n.134+10G=)
c.369+10G= (n.369+10G=)
19g.41869224G>TCA882375290RPS19c.356+10G>T (n.356+10G>T)
c.134+10G>T (n.134+10G>T)
c.369+10G>T (n.369+10G>T)
 dbSNP
19g.41869225T>CCA2336668929RPS19c.356+11T>C (n.356+11T>C)
c.134+11T>C (n.134+11T>C)
c.369+11T>C (n.369+11T>C)
 dbSNP
19g.41869225T>GCA2814447566RPS19c.356+11T>G (n.356+11T>G)
c.134+11T>G (n.134+11T>G)
c.369+11T>G (n.369+11T>G)
19g.41869225T=CA2336668930RPS19c.356+11T= (n.356+11T=)
c.134+11T= (n.134+11T=)
c.369+11T= (n.369+11T=)
19g.41869225dupCA9465373RPS19c.356+11dup (n.356+11dup)
c.134+11dup (n.134+11dup)
c.369+11dup (n.369+11dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41869225_41869226delinsTACA2336668931RPS19c.356+11_356+12delinsTA (n.356+11_356+12delinsTA)
c.134+11_134+12delinsTA (n.134+11_134+12delinsTA)
c.369+11_369+12delinsTA (n.369+11_369+12delinsTA)
19g.41869226delCA9465374RPS19c.356+12del (n.356+12del)
c.134+12del (n.134+12del)
c.369+12del (n.369+12del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41869226A=CA2336668932RPS19c.356+12A= (n.356+12A=)
c.134+12A= (n.134+12A=)
c.369+12A= (n.369+12A=)
19g.41869226A>GCA2580097301RPS19c.356+12A>G (n.356+12A>G)
c.134+12A>G (n.134+12A>G)
c.369+12A>G (n.369+12A>G)
 ClinVar
19g.41869226A>TCA2585348963RPS19c.356+12A>T (n.356+12A>T)
c.134+12A>T (n.134+12A>T)
c.369+12A>T (n.369+12A>T)
 gnomAD v4
19g.41869228_41869229delCA2585348962RPS19c.356+14_356+15del (n.356+14_356+15del)
c.134+14_134+15del (n.134+14_134+15del)
c.369+14_369+15del (n.369+14_369+15del)
 gnomAD v4
19g.41869227delCA308568377RPS19c.356+13del (n.356+13del)
c.134+13del (n.134+13del)
c.369+13del (n.369+13del)
 COSMIC COSMIC
19g.41869227G>ACA996008918RPS19c.356+13G>A (n.356+13G>A)
c.134+13G>A (n.134+13G>A)
c.369+13G>A (n.369+13G>A)
 dbSNP gnomAD v3 gnomAD v4
19g.41869227G>CCA9465375RPS19c.356+13G>C (n.356+13G>C)
c.134+13G>C (n.134+13G>C)
c.369+13G>C (n.369+13G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41869227G=CA2336668934RPS19c.356+13G= (n.356+13G=)
c.134+13G= (n.134+13G=)
c.369+13G= (n.369+13G=)
19g.41869227G>TCA2580097302RPS19c.356+13G>T (n.356+13G>T)
c.134+13G>T (n.134+13G>T)
c.369+13G>T (n.369+13G>T)
 ClinVar gnomAD v4
19g.41869227_41869228insGGCA2585348964RPS19c.356+13_356+14insGG (n.356+13_356+14insGG)
c.134+13_134+14insGG (n.134+13_134+14insGG)
c.369+13_369+14insGG (n.369+13_369+14insGG)
 gnomAD v4
19g.41869227dupCA308568355RPS19c.356+13dup (n.356+13dup)
c.134+13dup (n.134+13dup)
c.369+13dup (n.369+13dup)
 dbSNP gnomAD v3 gnomAD v4
19g.41869227_41869228delinsGACA2336668933RPS19c.356+13_356+14delinsGA (n.356+13_356+14delinsGA)
c.134+13_134+14delinsGA (n.134+13_134+14delinsGA)
c.369+13_369+14delinsGA (n.369+13_369+14delinsGA)
19g.41869228_41869230delCA2585348965RPS19c.356+14_356+16del (n.356+14_356+16del)
c.134+14_134+16del (n.134+14_134+16del)
c.369+14_369+16del (n.369+14_369+16del)
 gnomAD v4
19g.41869228delCA882375300RPS19c.356+14del (n.356+14del)
c.134+14del (n.134+14del)
c.369+14del (n.369+14del)
 dbSNP gnomAD v3 gnomAD v4
19g.41869228A=CA293101RPS19c.356+14A= (n.356+14A=)
c.134+14A= (n.134+14A=)
c.369+14A= (n.369+14A=)
19g.41869228A>CCA9465377RPS19c.356+14A>C (n.356+14A>C)
c.134+14A>C (n.134+14A>C)
c.369+14A>C (n.369+14A>C)
 dbSNP gnomAD v3 gnomAD v4
19g.41869228A>GCA308568386RPS19c.356+14A>G (n.356+14A>G)
c.134+14A>G (n.134+14A>G)
c.369+14A>G (n.369+14A>G)
 dbSNP gnomAD v3 gnomAD v4
19g.41869228A>TCA9465376RPS19c.356+14A>T (n.356+14A>T)
c.134+14A>T (n.134+14A>T)
c.369+14A>T (n.369+14A>T)
 dbSNP gnomAD v3 gnomAD v4
19g.41869228delinsGGCA920112610RPS19c.356+14delinsGG (n.356+14delinsGG)
c.134+14delinsGG (n.134+14delinsGG)
c.369+14delinsGG (n.369+14delinsGG)
 ClinVar dbSNP
19g.41869229G>ACA882375305RPS19c.356+15G>A (n.356+15G>A)
c.134+15G>A (n.134+15G>A)
c.369+15G>A (n.369+15G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.41869229G>CCA2576795727RPS19c.356+15G>C (n.356+15G>C)
c.134+15G>C (n.134+15G>C)
c.369+15G>C (n.369+15G>C)
 gnomAD v4
19g.41869229G=CA2336668935RPS19c.356+15G= (n.356+15G=)
c.134+15G= (n.134+15G=)
c.369+15G= (n.369+15G=)
19g.41869230G>ACA2585348966RPS19c.356+16G>A (n.356+16G>A)
c.134+16G>A (n.134+16G>A)
c.369+16G>A (n.369+16G>A)
 gnomAD v4
19g.41869232G>ACA9465379RPS19c.356+18G>A (n.356+18G>A)
c.134+18G>A (n.134+18G>A)
c.369+18G>A (n.369+18G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41869232G>CCA9465378RPS19c.356+18G>C (n.356+18G>C)
c.134+18G>C (n.134+18G>C)
c.369+18G>C (n.369+18G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41869232G=CA2336668936RPS19c.356+18G= (n.356+18G=)
c.134+18G= (n.134+18G=)
c.369+18G= (n.369+18G=)
19g.41869232G>TCA9465380RPS19c.356+18G>T (n.356+18G>T)
c.134+18G>T (n.134+18G>T)
c.369+18G>T (n.369+18G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41869232_41869233insCCA2336668937RPS19c.356+18_356+19insC (n.356+18_356+19insC)
c.134+18_134+19insC (n.134+18_134+19insC)
c.369+18_369+19insC (n.369+18_369+19insC)
 dbSNP
19g.41869233G>ACA9465381RPS19c.356+19G>A (n.356+19G>A)
c.134+19G>A (n.134+19G>A)
c.369+19G>A (n.369+19G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41869233G=CA2336668938RPS19c.356+19G= (n.356+19G=)
c.134+19G= (n.134+19G=)
c.369+19G= (n.369+19G=)
19g.41869233_41869234insACA2585348967RPS19c.356+19_356+20insA (n.356+19_356+20insA)
c.134+19_134+20insA (n.134+19_134+20insA)
c.369+19_369+20insA (n.369+19_369+20insA)
 gnomAD v4
19g.41869234C>ACA2585348968RPS19c.356+20C>A (n.356+20C>A)
c.134+20C>A (n.134+20C>A)
c.369+20C>A (n.369+20C>A)
 gnomAD v4
19g.41869235T>ACA2585348969RPS19c.356+21T>A (n.356+21T>A)
c.134+21T>A (n.134+21T>A)
c.369+21T>A (n.369+21T>A)
 gnomAD v4
19g.41869235T>CCA2585348970RPS19c.356+21T>C (n.356+21T>C)
c.134+21T>C (n.134+21T>C)
c.369+21T>C (n.369+21T>C)
 gnomAD v4
19g.41869236G>ACA2585348971RPS19c.356+22G>A (n.356+22G>A)
c.134+22G>A (n.134+22G>A)
c.369+22G>A (n.369+22G>A)
 gnomAD v4
19g.41869236G>TCA2585348972RPS19c.356+22G>T (n.356+22G>T)
c.134+22G>T (n.134+22G>T)
c.369+22G>T (n.369+22G>T)
 gnomAD v4
19g.41869237C>ACA2585348973RPS19c.356+23C>A (n.356+23C>A)
c.134+23C>A (n.134+23C>A)
c.369+23C>A (n.369+23C>A)
 gnomAD v4
19g.41869238A=CA2336668939RPS19c.356+24A= (n.356+24A=)
c.134+24A= (n.134+24A=)
c.369+24A= (n.369+24A=)
19g.41869238A>GCA9465382RPS19c.356+24A>G (n.356+24A>G)
c.134+24A>G (n.134+24A>G)
c.369+24A>G (n.369+24A>G)
 dbSNP ExAC gnomAD v2
19g.41869239T>CCA9465383RPS19c.356+25T>C (n.356+25T>C)
c.134+25T>C (n.134+25T>C)
c.369+25T>C (n.369+25T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41869239T>GCA2585348974RPS19c.356+25T>G (n.356+25T>G)
c.134+25T>G (n.134+25T>G)
c.369+25T>G (n.369+25T>G)
 gnomAD v4
19g.41869239T=CA2336668940RPS19c.356+25T= (n.356+25T=)
c.134+25T= (n.134+25T=)
c.369+25T= (n.369+25T=)
19g.41869241G>ACA2585348975RPS19c.356+27G>A (n.356+27G>A)
c.134+27G>A (n.134+27G>A)
c.369+27G>A (n.369+27G>A)
 gnomAD v4
19g.41869242A>TCA2585348976RPS19c.356+28A>T (n.356+28A>T)
c.134+28A>T (n.134+28A>T)
c.369+28A>T (n.369+28A>T)
 gnomAD v4

Number of alleles fetched