Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.139350189T>ACA354760878MRPS22c.305T>A (p.Ile102Asn)
c.515T>A (p.Ile172Asn)
n.529T>A
c.134T>A (p.Ile45Asn)
c.*156T>A (n.*156T>A)
n.2383T>A
n.538T>A
c.512T>A (p.Ile171Asn)
c.530T>A (p.Ile177Asn)
c.608T>A
c.392T>A (p.Ile131Asn)
c.54T>A
n.515T>A
n.255T>A
c.*112T>A (n.*112T>A)
c.389T>A (p.Ile130Asn)
3g.139350189T>CCA354760876MRPS22c.305T>C (p.Ile102Thr)
c.515T>C (p.Ile172Thr)
n.529T>C
c.134T>C (p.Ile45Thr)
c.*156T>C (n.*156T>C)
n.2383T>C
n.538T>C
c.512T>C (p.Ile171Thr)
c.530T>C (p.Ile177Thr)
c.608T>C
c.392T>C (p.Ile131Thr)
c.54T>C
n.515T>C
n.255T>C
c.*112T>C (n.*112T>C)
c.389T>C (p.Ile130Thr)
3g.139350189T>GCA354760879MRPS22c.305T>G (p.Ile102Ser)
c.515T>G (p.Ile172Ser)
n.529T>G
c.134T>G (p.Ile45Ser)
c.*156T>G (n.*156T>G)
n.2383T>G
n.538T>G
c.512T>G (p.Ile171Ser)
c.530T>G (p.Ile177Ser)
c.608T>G
c.392T>G (p.Ile131Ser)
c.54T>G
n.515T>G
n.255T>G
c.*112T>G (n.*112T>G)
c.389T>G (p.Ile130Ser)
3g.139350190T>ACA435881762MRPS22c.306T>A (p.Ile102=)
c.516T>A (p.Ile172=)
n.530T>A
c.135T>A (p.Ile45=)
c.*157T>A (n.*157T>A)
n.2384T>A
n.539T>A
c.513T>A (p.Ile171=)
c.531T>A (p.Ile177=)
c.609T>A
c.393T>A (p.Ile131=)
c.55T>A
n.516T>A
n.256T>A
c.*113T>A (n.*113T>A)
c.390T>A (p.Ile130=)
3g.139350190T>CCA435881764MRPS22c.306T>C (p.Ile102=)
c.516T>C (p.Ile172=)
n.530T>C
c.135T>C (p.Ile45=)
c.*157T>C (n.*157T>C)
n.2384T>C
n.539T>C
c.513T>C (p.Ile171=)
c.531T>C (p.Ile177=)
c.609T>C
c.393T>C (p.Ile131=)
c.55T>C
n.516T>C
n.256T>C
c.*113T>C (n.*113T>C)
c.390T>C (p.Ile130=)
 dbSNP
3g.139350190T>GCA354760881MRPS22c.306T>G (p.Ile102Met)
c.516T>G (p.Ile172Met)
n.530T>G
c.135T>G (p.Ile45Met)
c.*157T>G (n.*157T>G)
n.2384T>G
n.539T>G
c.513T>G (p.Ile171Met)
c.531T>G (p.Ile177Met)
c.609T>G
c.393T>G (p.Ile131Met)
c.55T>G
n.516T>G
n.256T>G
c.*113T>G (n.*113T>G)
c.390T>G (p.Ile130Met)
3g.139350190T=CA1405584388MRPS22c.306T= (p.Ile102=)
c.516T= (p.Ile172=)
n.530T=
c.135T= (p.Ile45=)
c.*157T= (n.*157T=)
n.2384T=
n.539T=
c.513T= (p.Ile171=)
c.531T= (p.Ile177=)
c.609T=
c.393T= (p.Ile131=)
c.55T=
n.516T=
n.256T=
c.*113T= (n.*113T=)
c.390T= (p.Ile130=)
3g.139350190_139350193delinsTGTCCA1405584387MRPS22c.306_309delinsTGTC (p.Ile102=)
c.516_519delinsTGTC (p.Ile172=)
n.530_533delinsTGTC
c.135_138delinsTGTC (p.Ile45=)
c.*157_*160delinsTGTC (n.*157_*160delinsTGTC)
n.2384_2387delinsTGTC
n.539_542delinsTGTC
c.513_516delinsTGTC (p.Ile171=)
c.531_534delinsTGTC (p.Ile177=)
c.609_612delinsTGTC
c.393_396delinsTGTC (p.Ile131=)
c.55_58delinsTGTC
n.516_519delinsTGTC
n.256_259delinsTGTC
c.*113_*116delinsTGTC (n.*113_*116delinsTGTC)
c.390_393delinsTGTC (p.Ile130=)
3g.139350191G>ACA354760883MRPS22c.307G>A (p.Val103Ile)
c.517G>A (p.Val173Ile)
n.531G>A
c.136G>A (p.Val46Ile)
c.*158G>A (n.*158G>A)
n.2385G>A
n.540G>A
c.514G>A (p.Val172Ile)
c.532G>A (p.Val178Ile)
c.610G>A
c.394G>A (p.Val132Ile)
c.56G>A
n.517G>A
n.257G>A
c.*114G>A (n.*114G>A)
c.391G>A (p.Val131Ile)
 dbSNP
3g.139350191G>CCA354760885MRPS22c.307G>C (p.Val103Leu)
c.517G>C (p.Val173Leu)
n.531G>C
c.136G>C (p.Val46Leu)
c.*158G>C (n.*158G>C)
n.2385G>C
n.540G>C
c.514G>C (p.Val172Leu)
c.532G>C (p.Val178Leu)
c.610G>C
c.394G>C (p.Val132Leu)
c.56G>C
n.517G>C
n.257G>C
c.*114G>C (n.*114G>C)
c.391G>C (p.Val131Leu)
3g.139350191G=CA1405584389MRPS22c.307G= (p.Val103=)
c.517G= (p.Val173=)
n.531G=
c.136G= (p.Val46=)
c.*158G= (n.*158G=)
n.2385G=
n.540G=
c.514G= (p.Val172=)
c.532G= (p.Val178=)
c.610G=
c.394G= (p.Val132=)
c.56G=
n.517G=
n.257G=
c.*114G= (n.*114G=)
c.391G= (p.Val131=)
3g.139350191G>TCA354760886MRPS22c.307G>T (p.Val103Phe)
c.517G>T (p.Val173Phe)
n.531G>T
c.136G>T (p.Val46Phe)
c.*158G>T (n.*158G>T)
n.2385G>T
n.540G>T
c.514G>T (p.Val172Phe)
c.532G>T (p.Val178Phe)
c.610G>T
c.394G>T (p.Val132Phe)
c.56G>T
n.517G>T
n.257G>T
c.*114G>T (n.*114G>T)
c.391G>T (p.Val131Phe)
3g.139350194_139350196delCA83994465MRPS22c.310_312del (p.Val104del)
c.520_522del (p.Val174del)
n.534_536del
c.139_141del (p.Val47del)
c.*161_*163del (n.*161_*163del)
n.2388_2390del
n.543_545del
c.517_519del (p.Val173del)
c.535_537del (p.Val179del)
c.613_615del
c.397_399del (p.Val133del)
c.59_61del
n.520_522del
n.260_262del
c.*117_*119del (n.*117_*119del)
c.394_396del (p.Val132del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.139350192T>ACA354760888MRPS22c.308T>A (p.Val103Asp)
c.518T>A (p.Val173Asp)
n.532T>A
c.137T>A (p.Val46Asp)
c.*159T>A (n.*159T>A)
n.2386T>A
n.541T>A
c.515T>A (p.Val172Asp)
c.533T>A (p.Val178Asp)
c.611T>A
c.395T>A (p.Val132Asp)
c.57T>A
n.518T>A
n.258T>A
c.*115T>A (n.*115T>A)
c.392T>A (p.Val131Asp)
3g.139350192T>CCA354760890MRPS22c.308T>C (p.Val103Ala)
c.518T>C (p.Val173Ala)
n.532T>C
c.137T>C (p.Val46Ala)
c.*159T>C (n.*159T>C)
n.2386T>C
n.541T>C
c.515T>C (p.Val172Ala)
c.533T>C (p.Val178Ala)
c.611T>C
c.395T>C (p.Val132Ala)
c.57T>C
n.518T>C
n.258T>C
c.*115T>C (n.*115T>C)
c.392T>C (p.Val131Ala)
3g.139350192T>GCA354760891MRPS22c.308T>G (p.Val103Gly)
c.518T>G (p.Val173Gly)
n.532T>G
c.137T>G (p.Val46Gly)
c.*159T>G (n.*159T>G)
n.2386T>G
n.541T>G
c.515T>G (p.Val172Gly)
c.533T>G (p.Val178Gly)
c.611T>G
c.395T>G (p.Val132Gly)
c.57T>G
n.518T>G
n.258T>G
c.*115T>G (n.*115T>G)
c.392T>G (p.Val131Gly)
3g.139350193C>ACA435881784MRPS22c.309C>A (p.Val103=)
c.519C>A (p.Val173=)
n.533C>A
c.138C>A (p.Val46=)
c.*160C>A (n.*160C>A)
n.2387C>A
n.542C>A
c.516C>A (p.Val172=)
c.534C>A (p.Val178=)
c.612C>A
c.396C>A (p.Val132=)
c.58C>A
n.519C>A
n.259C>A
c.*116C>A (n.*116C>A)
c.393C>A (p.Val131=)
 COSMIC
3g.139350193C=CA1405584390MRPS22c.309C= (p.Val103=)
c.519C= (p.Val173=)
n.533C=
c.138C= (p.Val46=)
c.*160C= (n.*160C=)
n.2387C=
n.542C=
c.516C= (p.Val172=)
c.534C= (p.Val178=)
c.612C=
c.396C= (p.Val132=)
c.58C=
n.519C=
n.259C=
c.*116C= (n.*116C=)
c.393C= (p.Val131=)
3g.139350193C>GCA435881790MRPS22c.309C>G (p.Val103=)
c.519C>G (p.Val173=)
n.533C>G
c.138C>G (p.Val46=)
c.*160C>G (n.*160C>G)
n.2387C>G
n.542C>G
c.516C>G (p.Val172=)
c.534C>G (p.Val178=)
c.612C>G
c.396C>G (p.Val132=)
c.58C>G
n.519C>G
n.259C>G
c.*116C>G (n.*116C>G)
c.393C>G (p.Val131=)
3g.139350193C>TCA2640746MRPS22c.309C>T (p.Val103=)
c.519C>T (p.Val173=)
n.533C>T
c.138C>T (p.Val46=)
c.*160C>T (n.*160C>T)
n.2387C>T
n.542C>T
c.516C>T (p.Val172=)
c.534C>T (p.Val178=)
c.612C>T
c.396C>T (p.Val132=)
c.58C>T
n.519C>T
n.259C>T
c.*116C>T (n.*116C>T)
c.393C>T (p.Val131=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.139350194G>ACA83994467MRPS22c.310G>A (p.Val104Ile)
c.520G>A (p.Val174Ile)
n.534G>A
c.139G>A (p.Val47Ile)
c.*161G>A (n.*161G>A)
n.2388G>A
n.543G>A
c.517G>A (p.Val173Ile)
c.535G>A (p.Val179Ile)
c.613G>A
c.397G>A (p.Val133Ile)
c.59G>A
n.520G>A
n.260G>A
c.*117G>A (n.*117G>A)
c.394G>A (p.Val132Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.139350194G>CCA354760895MRPS22c.310G>C (p.Val104Leu)
c.520G>C (p.Val174Leu)
n.534G>C
c.139G>C (p.Val47Leu)
c.*161G>C (n.*161G>C)
n.2388G>C
n.543G>C
c.517G>C (p.Val173Leu)
c.535G>C (p.Val179Leu)
c.613G>C
c.397G>C (p.Val133Leu)
c.59G>C
n.520G>C
n.260G>C
c.*117G>C (n.*117G>C)
c.394G>C (p.Val132Leu)
3g.139350194G=CA1405584391MRPS22c.310G= (p.Val104=)
c.520G= (p.Val174=)
n.534G=
c.139G= (p.Val47=)
c.*161G= (n.*161G=)
n.2388G=
n.543G=
c.517G= (p.Val173=)
c.535G= (p.Val179=)
c.613G=
c.397G= (p.Val133=)
c.59G=
n.520G=
n.260G=
c.*117G= (n.*117G=)
c.394G= (p.Val132=)
3g.139350194G>TCA354760896MRPS22c.310G>T (p.Val104Phe)
c.520G>T (p.Val174Phe)
n.534G>T
c.139G>T (p.Val47Phe)
c.*161G>T (n.*161G>T)
n.2388G>T
n.543G>T
c.517G>T (p.Val173Phe)
c.535G>T (p.Val179Phe)
c.613G>T
c.397G>T (p.Val133Phe)
c.59G>T
n.520G>T
n.260G>T
c.*117G>T (n.*117G>T)
c.394G>T (p.Val132Phe)
3g.139350195T>ACA354760898MRPS22c.311T>A (p.Val104Asp)
c.521T>A (p.Val174Asp)
n.535T>A
c.140T>A (p.Val47Asp)
c.*162T>A (n.*162T>A)
n.2389T>A
n.544T>A
c.518T>A (p.Val173Asp)
c.536T>A (p.Val179Asp)
c.614T>A
c.398T>A (p.Val133Asp)
c.60T>A
n.521T>A
n.261T>A
c.*118T>A (n.*118T>A)
c.395T>A (p.Val132Asp)
3g.139350195T>CCA354760902MRPS22c.311T>C (p.Val104Ala)
c.521T>C (p.Val174Ala)
n.535T>C
c.140T>C (p.Val47Ala)
c.*162T>C (n.*162T>C)
n.2389T>C
n.544T>C
c.518T>C (p.Val173Ala)
c.536T>C (p.Val179Ala)
c.614T>C
c.398T>C (p.Val133Ala)
c.60T>C
n.521T>C
n.261T>C
c.*118T>C (n.*118T>C)
c.395T>C (p.Val132Ala)
3g.139350195T>GCA354760900MRPS22c.311T>G (p.Val104Gly)
c.521T>G (p.Val174Gly)
n.535T>G
c.140T>G (p.Val47Gly)
c.*162T>G (n.*162T>G)
n.2389T>G
n.544T>G
c.518T>G (p.Val173Gly)
c.536T>G (p.Val179Gly)
c.614T>G
c.398T>G (p.Val133Gly)
c.60T>G
n.521T>G
n.261T>G
c.*118T>G (n.*118T>G)
c.395T>G (p.Val132Gly)
3g.139350196C>ACA435881808MRPS22c.312C>A (p.Val104=)
c.522C>A (p.Val174=)
n.536C>A
c.141C>A (p.Val47=)
c.*163C>A (n.*163C>A)
n.2390C>A
n.545C>A
c.519C>A (p.Val173=)
c.537C>A (p.Val179=)
c.615C>A
c.399C>A (p.Val133=)
c.61C>A
n.522C>A
n.262C>A
c.*119C>A (n.*119C>A)
c.396C>A (p.Val132=)
3g.139350196C=CA1405584392MRPS22c.312C= (p.Val104=)
c.522C= (p.Val174=)
n.536C=
c.141C= (p.Val47=)
c.*163C= (n.*163C=)
n.2390C=
n.545C=
c.519C= (p.Val173=)
c.537C= (p.Val179=)
c.615C=
c.399C= (p.Val133=)
c.61C=
n.522C=
n.262C=
c.*119C= (n.*119C=)
c.396C= (p.Val132=)
3g.139350196C>GCA435881810MRPS22c.312C>G (p.Val104=)
c.522C>G (p.Val174=)
n.536C>G
c.141C>G (p.Val47=)
c.*163C>G (n.*163C>G)
n.2390C>G
n.545C>G
c.519C>G (p.Val173=)
c.537C>G (p.Val179=)
c.615C>G
c.399C>G (p.Val133=)
c.61C>G
n.522C>G
n.262C>G
c.*119C>G (n.*119C>G)
c.396C>G (p.Val132=)
3g.139350196C>TCA435881813MRPS22c.312C>T (p.Val104=)
c.522C>T (p.Val174=)
n.536C>T
c.141C>T (p.Val47=)
c.*163C>T (n.*163C>T)
n.2390C>T
n.545C>T
c.519C>T (p.Val173=)
c.537C>T (p.Val179=)
c.615C>T
c.399C>T (p.Val133=)
c.61C>T
n.522C>T
n.262C>T
c.*119C>T (n.*119C>T)
c.396C>T (p.Val132=)
 dbSNP
3g.139350197A=CA1405584393MRPS22c.313A= (p.Arg105=)
c.523A= (p.Arg175=)
n.537A=
c.142A= (p.Arg48=)
c.*164A= (n.*164A=)
n.2391A=
n.546A=
c.520A= (p.Arg174=)
c.538A= (p.Arg180=)
c.616A=
c.400A= (p.Arg134=)
c.62A=
n.523A=
n.263A=
c.*120A= (n.*120A=)
c.397A= (p.Arg133=)
3g.139350197A>CCA435881817MRPS22c.313A>C (p.Arg105=)
c.523A>C (p.Arg175=)
n.537A>C
c.142A>C (p.Arg48=)
c.*164A>C (n.*164A>C)
n.2391A>C
n.546A>C
c.520A>C (p.Arg174=)
c.538A>C (p.Arg180=)
c.616A>C
c.400A>C (p.Arg134=)
c.62A>C
n.523A>C
n.263A>C
c.*120A>C (n.*120A>C)
c.397A>C (p.Arg133=)
3g.139350197A>GCA2640747MRPS22c.313A>G (p.Arg105Gly)
c.523A>G (p.Arg175Gly)
n.537A>G
c.142A>G (p.Arg48Gly)
c.*164A>G (n.*164A>G)
n.2391A>G
n.546A>G
c.520A>G (p.Arg174Gly)
c.538A>G (p.Arg180Gly)
c.616A>G
c.400A>G (p.Arg134Gly)
c.62A>G
n.523A>G
n.263A>G
c.*120A>G (n.*120A>G)
c.397A>G (p.Arg133Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.139350197A>TCA354760903MRPS22c.313A>T (p.Arg105Ter)
c.523A>T (p.Arg175Ter)
n.537A>T
c.142A>T (p.Arg48Ter)
c.*164A>T (n.*164A>T)
n.2391A>T
n.546A>T
c.520A>T (p.Arg174Ter)
c.538A>T (p.Arg180Ter)
c.616A>T
c.400A>T (p.Arg134Ter)
c.62A>T
n.523A>T
n.263A>T
c.*120A>T (n.*120A>T)
c.397A>T (p.Arg133Ter)
3g.139350198G>ACA354760905MRPS22c.314G>A (p.Arg105Lys)
c.524G>A (p.Arg175Lys)
n.538G>A
c.143G>A (p.Arg48Lys)
c.*165G>A (n.*165G>A)
n.2392G>A
n.547G>A
c.521G>A (p.Arg174Lys)
c.539G>A (p.Arg180Lys)
c.617G>A
c.401G>A (p.Arg134Lys)
c.63G>A
n.524G>A
n.264G>A
c.*121G>A (n.*121G>A)
c.398G>A (p.Arg133Lys)
3g.139350198G>CCA354760906MRPS22c.314G>C (p.Arg105Thr)
c.524G>C (p.Arg175Thr)
n.538G>C
c.143G>C (p.Arg48Thr)
c.*165G>C (n.*165G>C)
n.2392G>C
n.547G>C
c.521G>C (p.Arg174Thr)
c.539G>C (p.Arg180Thr)
c.617G>C
c.401G>C (p.Arg134Thr)
c.63G>C
n.524G>C
n.264G>C
c.*121G>C (n.*121G>C)
c.398G>C (p.Arg133Thr)
3g.139350198G>TCA354760907MRPS22c.314G>T (p.Arg105Ile)
c.524G>T (p.Arg175Ile)
n.538G>T
c.143G>T (p.Arg48Ile)
c.*165G>T (n.*165G>T)
n.2392G>T
n.547G>T
c.521G>T (p.Arg174Ile)
c.539G>T (p.Arg180Ile)
c.617G>T
c.401G>T (p.Arg134Ile)
c.63G>T
n.524G>T
n.264G>T
c.*121G>T (n.*121G>T)
c.398G>T (p.Arg133Ile)
3g.139350199A>CCA354760909MRPS22c.315A>C (p.Arg105Ser)
c.525A>C (p.Arg175Ser)
n.539A>C
c.144A>C (p.Arg48Ser)
c.*166A>C (n.*166A>C)
n.2393A>C
n.548A>C
c.522A>C (p.Arg174Ser)
c.540A>C (p.Arg180Ser)
c.618A>C
c.402A>C (p.Arg134Ser)
c.64A>C
n.525A>C
n.265A>C
c.*122A>C (n.*122A>C)
c.399A>C (p.Arg133Ser)
3g.139350199A>GCA435881834MRPS22c.315A>G (p.Arg105=)
c.525A>G (p.Arg175=)
n.539A>G
c.144A>G (p.Arg48=)
c.*166A>G (n.*166A>G)
n.2393A>G
n.548A>G
c.522A>G (p.Arg174=)
c.540A>G (p.Arg180=)
c.618A>G
c.402A>G (p.Arg134=)
c.64A>G
n.525A>G
n.265A>G
c.*122A>G (n.*122A>G)
c.399A>G (p.Arg133=)
3g.139350199A>TCA354760910MRPS22c.315A>T (p.Arg105Ser)
c.525A>T (p.Arg175Ser)
n.539A>T
c.144A>T (p.Arg48Ser)
c.*166A>T (n.*166A>T)
n.2393A>T
n.548A>T
c.522A>T (p.Arg174Ser)
c.540A>T (p.Arg180Ser)
c.618A>T
c.402A>T (p.Arg134Ser)
c.64A>T
n.525A>T
n.265A>T
c.*122A>T (n.*122A>T)
c.399A>T (p.Arg133Ser)
3g.139350200G>ACA354760911MRPS22c.316G>A (p.Glu106Lys)
c.526G>A (p.Glu176Lys)
n.540G>A
c.145G>A (p.Glu49Lys)
c.*167G>A (n.*167G>A)
n.2394G>A
n.549G>A
c.523G>A (p.Glu175Lys)
c.541G>A (p.Glu181Lys)
c.619G>A
c.403G>A (p.Glu135Lys)
c.65G>A
n.526G>A
n.266G>A
c.*123G>A (n.*123G>A)
c.400G>A (p.Glu134Lys)
3g.139350200G>CCA354760913MRPS22c.316G>C (p.Glu106Gln)
c.526G>C (p.Glu176Gln)
n.540G>C
c.145G>C (p.Glu49Gln)
c.*167G>C (n.*167G>C)
n.2394G>C
n.549G>C
c.523G>C (p.Glu175Gln)
c.541G>C (p.Glu181Gln)
c.619G>C
c.403G>C (p.Glu135Gln)
c.65G>C
n.526G>C
n.266G>C
c.*123G>C (n.*123G>C)
c.400G>C (p.Glu134Gln)
3g.139350200G>TCA354760914MRPS22c.316G>T (p.Glu106Ter)
c.526G>T (p.Glu176Ter)
n.540G>T
c.145G>T (p.Glu49Ter)
c.*167G>T (n.*167G>T)
n.2394G>T
n.549G>T
c.523G>T (p.Glu175Ter)
c.541G>T (p.Glu181Ter)
c.619G>T
c.403G>T (p.Glu135Ter)
c.65G>T
n.526G>T
n.266G>T
c.*123G>T (n.*123G>T)
c.400G>T (p.Glu134Ter)
3g.139350201A>CCA354760918MRPS22c.317A>C (p.Glu106Ala)
c.527A>C (p.Glu176Ala)
n.541A>C
c.146A>C (p.Glu49Ala)
c.*168A>C (n.*168A>C)
n.2395A>C
n.550A>C
c.524A>C (p.Glu175Ala)
c.542A>C (p.Glu181Ala)
c.620A>C
c.404A>C (p.Glu135Ala)
c.66A>C
n.527A>C
n.267A>C
c.*124A>C (n.*124A>C)
c.401A>C (p.Glu134Ala)
3g.139350201A>GCA354760920MRPS22c.317A>G (p.Glu106Gly)
c.527A>G (p.Glu176Gly)
n.541A>G
c.146A>G (p.Glu49Gly)
c.*168A>G (n.*168A>G)
n.2395A>G
n.550A>G
c.524A>G (p.Glu175Gly)
c.542A>G (p.Glu181Gly)
c.620A>G
c.404A>G (p.Glu135Gly)
c.66A>G
n.527A>G
n.267A>G
c.*124A>G (n.*124A>G)
c.401A>G (p.Glu134Gly)
3g.139350201A>TCA354760916MRPS22c.317A>T (p.Glu106Val)
c.527A>T (p.Glu176Val)
n.541A>T
c.146A>T (p.Glu49Val)
c.*168A>T (n.*168A>T)
n.2395A>T
n.550A>T
c.524A>T (p.Glu175Val)
c.542A>T (p.Glu181Val)
c.620A>T
c.404A>T (p.Glu135Val)
c.66A>T
n.527A>T
n.267A>T
c.*124A>T (n.*124A>T)
c.401A>T (p.Glu134Val)
 gnomAD v4
3g.139350202A>CCA354760921MRPS22c.318A>C (p.Glu106Asp)
c.528A>C (p.Glu176Asp)
n.542A>C
c.147A>C (p.Glu49Asp)
c.*169A>C (n.*169A>C)
n.2396A>C
n.551A>C
c.525A>C (p.Glu175Asp)
c.543A>C (p.Glu181Asp)
c.621A>C
c.405A>C (p.Glu135Asp)
c.67A>C
n.528A>C
n.268A>C
c.*125A>C (n.*125A>C)
c.402A>C (p.Glu134Asp)
3g.139350202A>GCA435881858MRPS22c.318A>G (p.Glu106=)
c.528A>G (p.Glu176=)
n.542A>G
c.147A>G (p.Glu49=)
c.*169A>G (n.*169A>G)
n.2396A>G
n.551A>G
c.525A>G (p.Glu175=)
c.543A>G (p.Glu181=)
c.621A>G
c.405A>G (p.Glu135=)
c.67A>G
n.528A>G
n.268A>G
c.*125A>G (n.*125A>G)
c.402A>G (p.Glu134=)
 gnomAD v4
3g.139350202A>TCA354760923MRPS22c.318A>T (p.Glu106Asp)
c.528A>T (p.Glu176Asp)
n.542A>T
c.147A>T (p.Glu49Asp)
c.*169A>T (n.*169A>T)
n.2396A>T
n.551A>T
c.525A>T (p.Glu175Asp)
c.543A>T (p.Glu181Asp)
c.621A>T
c.405A>T (p.Glu135Asp)
c.67A>T
n.528A>T
n.268A>T
c.*125A>T (n.*125A>T)
c.402A>T (p.Glu134Asp)
3g.139350204_139350213delCA2667939383MRPS22c.320_329del (p.Pro107HisfsTer13)
c.530_539del (p.Pro177HisfsTer13)
n.544_553del
c.149_158del (p.Pro50HisfsTer13)
c.*171_*180del (n.*171_*180del)
n.2398_2407del
n.553_562del
c.527_536del (p.Pro176HisfsTer13)
c.545_554del (p.Pro182HisfsTer13)
c.623_632del
c.407_416del (p.Pro136HisfsTer13)
c.69_78del
n.530_539del
n.270_279del
c.*127_*136del (n.*127_*136del)
c.404_413del (p.Pro135HisfsTer13)
 gnomAD v4
3g.139350203C>ACA354760925MRPS22c.319C>A (p.Pro107Thr)
c.529C>A (p.Pro177Thr)
n.543C>A
c.148C>A (p.Pro50Thr)
c.*170C>A (n.*170C>A)
n.2397C>A
n.552C>A
c.526C>A (p.Pro176Thr)
c.544C>A (p.Pro182Thr)
c.622C>A
c.406C>A (p.Pro136Thr)
c.68C>A
n.529C>A
n.269C>A
c.*126C>A (n.*126C>A)
c.403C>A (p.Pro135Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.139350203C=CA1405584394MRPS22c.319C= (p.Pro107=)
c.529C= (p.Pro177=)
n.543C=
c.148C= (p.Pro50=)
c.*170C= (n.*170C=)
n.2397C=
n.552C=
c.526C= (p.Pro176=)
c.544C= (p.Pro182=)
c.622C=
c.406C= (p.Pro136=)
c.68C=
n.529C=
n.269C=
c.*126C= (n.*126C=)
c.403C= (p.Pro135=)
3g.139350203C>GCA354760928MRPS22c.319C>G (p.Pro107Ala)
c.529C>G (p.Pro177Ala)
n.543C>G
c.148C>G (p.Pro50Ala)
c.*170C>G (n.*170C>G)
n.2397C>G
n.552C>G
c.526C>G (p.Pro176Ala)
c.544C>G (p.Pro182Ala)
c.622C>G
c.406C>G (p.Pro136Ala)
c.68C>G
n.529C>G
n.269C>G
c.*126C>G (n.*126C>G)
c.403C>G (p.Pro135Ala)
 dbSNP gnomAD v3 gnomAD v4
3g.139350203C>TCA354760930MRPS22c.319C>T (p.Pro107Ser)
c.529C>T (p.Pro177Ser)
n.543C>T
c.148C>T (p.Pro50Ser)
c.*170C>T (n.*170C>T)
n.2397C>T
n.552C>T
c.526C>T (p.Pro176Ser)
c.544C>T (p.Pro182Ser)
c.622C>T
c.406C>T (p.Pro136Ser)
c.68C>T
n.529C>T
n.269C>T
c.*126C>T (n.*126C>T)
c.403C>T (p.Pro135Ser)
 gnomAD v4
3g.139350204C>ACA354760932MRPS22c.320C>A (p.Pro107Gln)
c.530C>A (p.Pro177Gln)
n.544C>A
c.149C>A (p.Pro50Gln)
c.*171C>A (n.*171C>A)
n.2398C>A
n.553C>A
c.527C>A (p.Pro176Gln)
c.545C>A (p.Pro182Gln)
c.623C>A
c.407C>A (p.Pro136Gln)
c.69C>A
n.530C>A
n.270C>A
c.*127C>A (n.*127C>A)
c.404C>A (p.Pro135Gln)
3g.139350204C>GCA354760933MRPS22c.320C>G (p.Pro107Arg)
c.530C>G (p.Pro177Arg)
n.544C>G
c.149C>G (p.Pro50Arg)
c.*171C>G (n.*171C>G)
n.2398C>G
n.553C>G
c.527C>G (p.Pro176Arg)
c.545C>G (p.Pro182Arg)
c.623C>G
c.407C>G (p.Pro136Arg)
c.69C>G
n.530C>G
n.270C>G
c.*127C>G (n.*127C>G)
c.404C>G (p.Pro135Arg)
 gnomAD v4
3g.139350204C>TCA354760935MRPS22c.320C>T (p.Pro107Leu)
c.530C>T (p.Pro177Leu)
n.544C>T
c.149C>T (p.Pro50Leu)
c.*171C>T (n.*171C>T)
n.2398C>T
n.553C>T
c.527C>T (p.Pro176Leu)
c.545C>T (p.Pro182Leu)
c.623C>T
c.407C>T (p.Pro136Leu)
c.69C>T
n.530C>T
n.270C>T
c.*127C>T (n.*127C>T)
c.404C>T (p.Pro135Leu)
3g.139350205A>CCA435881877MRPS22c.321A>C (p.Pro107=)
c.531A>C (p.Pro177=)
n.545A>C
c.150A>C (p.Pro50=)
c.*172A>C (n.*172A>C)
n.2399A>C
n.554A>C
c.528A>C (p.Pro176=)
c.546A>C (p.Pro182=)
c.624A>C
c.408A>C (p.Pro136=)
c.70A>C
n.531A>C
n.271A>C
c.*128A>C (n.*128A>C)
c.405A>C (p.Pro135=)
3g.139350205A>GCA435881881MRPS22c.321A>G (p.Pro107=)
c.531A>G (p.Pro177=)
n.545A>G
c.150A>G (p.Pro50=)
c.*172A>G (n.*172A>G)
n.2399A>G
n.554A>G
c.528A>G (p.Pro176=)
c.546A>G (p.Pro182=)
c.624A>G
c.408A>G (p.Pro136=)
c.70A>G
n.531A>G
n.271A>G
c.*128A>G (n.*128A>G)
c.405A>G (p.Pro135=)
3g.139350205A>TCA435881887MRPS22c.321A>T (p.Pro107=)
c.531A>T (p.Pro177=)
n.545A>T
c.150A>T (p.Pro50=)
c.*172A>T (n.*172A>T)
n.2399A>T
n.554A>T
c.528A>T (p.Pro176=)
c.546A>T (p.Pro182=)
c.624A>T
c.408A>T (p.Pro136=)
c.70A>T
n.531A>T
n.271A>T
c.*128A>T (n.*128A>T)
c.405A>T (p.Pro135=)
3g.139350206A=CA1405584395MRPS22c.322A= (p.Ser108=)
c.532A= (p.Ser178=)
n.546A=
c.151A= (p.Ser51=)
c.*173A= (n.*173A=)
n.2400A=
n.555A=
c.529A= (p.Ser177=)
c.547A= (p.Ser183=)
c.625A=
c.409A= (p.Ser137=)
c.71A=
n.532A=
n.272A=
c.*129A= (n.*129A=)
c.406A= (p.Ser136=)
3g.139350206A>CCA354760936MRPS22c.322A>C (p.Ser108Arg)
c.532A>C (p.Ser178Arg)
n.546A>C
c.151A>C (p.Ser51Arg)
c.*173A>C (n.*173A>C)
n.2400A>C
n.555A>C
c.529A>C (p.Ser177Arg)
c.547A>C (p.Ser183Arg)
c.625A>C
c.409A>C (p.Ser137Arg)
c.71A>C
n.532A>C
n.272A>C
c.*129A>C (n.*129A>C)
c.406A>C (p.Ser136Arg)
3g.139350206A>GCA354760937MRPS22c.322A>G (p.Ser108Gly)
c.532A>G (p.Ser178Gly)
n.546A>G
c.151A>G (p.Ser51Gly)
c.*173A>G (n.*173A>G)
n.2400A>G
n.555A>G
c.529A>G (p.Ser177Gly)
c.547A>G (p.Ser183Gly)
c.625A>G
c.409A>G (p.Ser137Gly)
c.71A>G
n.532A>G
n.272A>G
c.*129A>G (n.*129A>G)
c.406A>G (p.Ser136Gly)
 dbSNP gnomAD v2 gnomAD v4
3g.139350206A>TCA354760939MRPS22c.322A>T (p.Ser108Cys)
c.532A>T (p.Ser178Cys)
n.546A>T
c.151A>T (p.Ser51Cys)
c.*173A>T (n.*173A>T)
n.2400A>T
n.555A>T
c.529A>T (p.Ser177Cys)
c.547A>T (p.Ser183Cys)
c.625A>T
c.409A>T (p.Ser137Cys)
c.71A>T
n.532A>T
n.272A>T
c.*129A>T (n.*129A>T)
c.406A>T (p.Ser136Cys)
3g.139350207G>ACA354760940MRPS22c.323G>A (p.Ser108Asn)
c.533G>A (p.Ser178Asn)
n.547G>A
c.152G>A (p.Ser51Asn)
c.*174G>A (n.*174G>A)
n.2401G>A
n.556G>A
c.530G>A (p.Ser177Asn)
c.548G>A (p.Ser183Asn)
c.626G>A
c.410G>A (p.Ser137Asn)
c.72G>A
n.533G>A
n.273G>A
c.*130G>A (n.*130G>A)
c.407G>A (p.Ser136Asn)
3g.139350207G>CCA354760941MRPS22c.323G>C (p.Ser108Thr)
c.533G>C (p.Ser178Thr)
n.547G>C
c.152G>C (p.Ser51Thr)
c.*174G>C (n.*174G>C)
n.2401G>C
n.556G>C
c.530G>C (p.Ser177Thr)
c.548G>C (p.Ser183Thr)
c.626G>C
c.410G>C (p.Ser137Thr)
c.72G>C
n.533G>C
n.273G>C
c.*130G>C (n.*130G>C)
c.407G>C (p.Ser136Thr)
3g.139350207G>TCA354760943MRPS22c.323G>T (p.Ser108Ile)
c.533G>T (p.Ser178Ile)
n.547G>T
c.152G>T (p.Ser51Ile)
c.*174G>T (n.*174G>T)
n.2401G>T
n.556G>T
c.530G>T (p.Ser177Ile)
c.548G>T (p.Ser183Ile)
c.626G>T
c.410G>T (p.Ser137Ile)
c.72G>T
n.533G>T
n.273G>T
c.*130G>T (n.*130G>T)
c.407G>T (p.Ser136Ile)
3g.139350208T>ACA354760944MRPS22c.324T>A (p.Ser108Arg)
c.534T>A (p.Ser178Arg)
n.548T>A
c.153T>A (p.Ser51Arg)
c.*175T>A (n.*175T>A)
n.2402T>A
n.557T>A
c.531T>A (p.Ser177Arg)
c.549T>A (p.Ser183Arg)
c.627T>A
c.411T>A (p.Ser137Arg)
c.73T>A
n.534T>A
n.274T>A
c.*131T>A (n.*131T>A)
c.408T>A (p.Ser136Arg)
3g.139350208T>CCA435881907MRPS22c.324T>C (p.Ser108=)
c.534T>C (p.Ser178=)
n.548T>C
c.153T>C (p.Ser51=)
c.*175T>C (n.*175T>C)
n.2402T>C
n.557T>C
c.531T>C (p.Ser177=)
c.549T>C (p.Ser183=)
c.627T>C
c.411T>C (p.Ser137=)
c.73T>C
n.534T>C
n.274T>C
c.*131T>C (n.*131T>C)
c.408T>C (p.Ser136=)
3g.139350208T>GCA354760946MRPS22c.324T>G (p.Ser108Arg)
c.534T>G (p.Ser178Arg)
n.548T>G
c.153T>G (p.Ser51Arg)
c.*175T>G (n.*175T>G)
n.2402T>G
n.557T>G
c.531T>G (p.Ser177Arg)
c.549T>G (p.Ser183Arg)
c.627T>G
c.411T>G (p.Ser137Arg)
c.73T>G
n.534T>G
n.274T>G
c.*131T>G (n.*131T>G)
c.408T>G (p.Ser136Arg)
3g.139350209G>ACA354760948MRPS22c.325G>A (p.Gly109Ser)
c.535G>A (p.Gly179Ser)
n.549G>A
c.154G>A (p.Gly52Ser)
c.*176G>A (n.*176G>A)
n.2403G>A
n.558G>A
c.532G>A (p.Gly178Ser)
c.550G>A (p.Gly184Ser)
c.628G>A
c.412G>A (p.Gly138Ser)
c.74G>A
n.535G>A
n.275G>A
c.*132G>A (n.*132G>A)
c.409G>A (p.Gly137Ser)
3g.139350209G>CCA354760950MRPS22c.325G>C (p.Gly109Arg)
c.535G>C (p.Gly179Arg)
n.549G>C
c.154G>C (p.Gly52Arg)
c.*176G>C (n.*176G>C)
n.2403G>C
n.558G>C
c.532G>C (p.Gly178Arg)
c.550G>C (p.Gly184Arg)
c.628G>C
c.412G>C (p.Gly138Arg)
c.74G>C
n.535G>C
n.275G>C
c.*132G>C (n.*132G>C)
c.409G>C (p.Gly137Arg)
3g.139350209G>TCA354760951MRPS22c.325G>T (p.Gly109Cys)
c.535G>T (p.Gly179Cys)
n.549G>T
c.154G>T (p.Gly52Cys)
c.*176G>T (n.*176G>T)
n.2403G>T
n.558G>T
c.532G>T (p.Gly178Cys)
c.550G>T (p.Gly184Cys)
c.628G>T
c.412G>T (p.Gly138Cys)
c.74G>T
n.535G>T
n.275G>T
c.*132G>T (n.*132G>T)
c.409G>T (p.Gly137Cys)
3g.139350210G>ACA354760953MRPS22c.326G>A (p.Gly109Asp)
c.536G>A (p.Gly179Asp)
n.550G>A
c.155G>A (p.Gly52Asp)
c.*177G>A (n.*177G>A)
n.2404G>A
n.559G>A
c.533G>A (p.Gly178Asp)
c.551G>A (p.Gly184Asp)
c.629G>A
c.413G>A (p.Gly138Asp)
c.75G>A
n.536G>A
n.276G>A
c.*133G>A (n.*133G>A)
c.410G>A (p.Gly137Asp)
 gnomAD v4
3g.139350210G>CCA354760955MRPS22c.326G>C (p.Gly109Ala)
c.536G>C (p.Gly179Ala)
n.550G>C
c.155G>C (p.Gly52Ala)
c.*177G>C (n.*177G>C)
n.2404G>C
n.559G>C
c.533G>C (p.Gly178Ala)
c.551G>C (p.Gly184Ala)
c.629G>C
c.413G>C (p.Gly138Ala)
c.75G>C
n.536G>C
n.276G>C
c.*133G>C (n.*133G>C)
c.410G>C (p.Gly137Ala)
3g.139350210G>TCA354760956MRPS22c.326G>T (p.Gly109Val)
c.536G>T (p.Gly179Val)
n.550G>T
c.155G>T (p.Gly52Val)
c.*177G>T (n.*177G>T)
n.2404G>T
n.559G>T
c.533G>T (p.Gly178Val)
c.551G>T (p.Gly184Val)
c.629G>T
c.413G>T (p.Gly138Val)
c.75G>T
n.536G>T
n.276G>T
c.*133G>T (n.*133G>T)
c.410G>T (p.Gly137Val)
3g.139350211C>ACA435881927MRPS22c.327C>A (p.Gly109=)
c.537C>A (p.Gly179=)
n.551C>A
c.156C>A (p.Gly52=)
c.*178C>A (n.*178C>A)
n.2405C>A
n.560C>A
c.534C>A (p.Gly178=)
c.552C>A (p.Gly184=)
c.630C>A
c.414C>A (p.Gly138=)
c.76C>A
n.537C>A
n.277C>A
c.*134C>A (n.*134C>A)
c.411C>A (p.Gly137=)
3g.139350211C>GCA435881930MRPS22c.327C>G (p.Gly109=)
c.537C>G (p.Gly179=)
n.551C>G
c.156C>G (p.Gly52=)
c.*178C>G (n.*178C>G)
n.2405C>G
n.560C>G
c.534C>G (p.Gly178=)
c.552C>G (p.Gly184=)
c.630C>G
c.414C>G (p.Gly138=)
c.76C>G
n.537C>G
n.277C>G
c.*134C>G (n.*134C>G)
c.411C>G (p.Gly137=)
3g.139350211C>TCA435881933MRPS22c.327C>T (p.Gly109=)
c.537C>T (p.Gly179=)
n.551C>T
c.156C>T (p.Gly52=)
c.*178C>T (n.*178C>T)
n.2405C>T
n.560C>T
c.534C>T (p.Gly178=)
c.552C>T (p.Gly184=)
c.630C>T
c.414C>T (p.Gly138=)
c.76C>T
n.537C>T
n.277C>T
c.*134C>T (n.*134C>T)
c.411C>T (p.Gly137=)
3g.139350212A>CCA354760958MRPS22c.328A>C (p.Thr110Pro)
c.538A>C (p.Thr180Pro)
n.552A>C
c.157A>C (p.Thr53Pro)
c.*179A>C (n.*179A>C)
n.2406A>C
n.561A>C
c.535A>C (p.Thr179Pro)
c.553A>C (p.Thr185Pro)
c.631A>C
c.415A>C (p.Thr139Pro)
c.77A>C
n.538A>C
n.278A>C
c.*135A>C (n.*135A>C)
c.412A>C (p.Thr138Pro)
3g.139350212A>GCA354760960MRPS22c.328A>G (p.Thr110Ala)
c.538A>G (p.Thr180Ala)
n.552A>G
c.157A>G (p.Thr53Ala)
c.*179A>G (n.*179A>G)
n.2406A>G
n.561A>G
c.535A>G (p.Thr179Ala)
c.553A>G (p.Thr185Ala)
c.631A>G
c.415A>G (p.Thr139Ala)
c.77A>G
n.538A>G
n.278A>G
c.*135A>G (n.*135A>G)
c.412A>G (p.Thr138Ala)
3g.139350212A>TCA354760961MRPS22c.328A>T (p.Thr110Ser)
c.538A>T (p.Thr180Ser)
n.552A>T
c.157A>T (p.Thr53Ser)
c.*179A>T (n.*179A>T)
n.2406A>T
n.561A>T
c.535A>T (p.Thr179Ser)
c.553A>T (p.Thr185Ser)
c.631A>T
c.415A>T (p.Thr139Ser)
c.77A>T
n.538A>T
n.278A>T
c.*135A>T (n.*135A>T)
c.412A>T (p.Thr138Ser)
3g.139350213C>ACA354760963MRPS22c.329C>A (p.Thr110Lys)
c.539C>A (p.Thr180Lys)
n.553C>A
c.158C>A (p.Thr53Lys)
c.*180C>A (n.*180C>A)
n.2407C>A
n.562C>A
c.536C>A (p.Thr179Lys)
c.554C>A (p.Thr185Lys)
c.632C>A
c.416C>A (p.Thr139Lys)
c.78C>A
n.539C>A
n.279C>A
c.*136C>A (n.*136C>A)
c.413C>A (p.Thr138Lys)
3g.139350213C>GCA354760965MRPS22c.329C>G (p.Thr110Arg)
c.539C>G (p.Thr180Arg)
n.553C>G
c.158C>G (p.Thr53Arg)
c.*180C>G (n.*180C>G)
n.2407C>G
n.562C>G
c.536C>G (p.Thr179Arg)
c.554C>G (p.Thr185Arg)
c.632C>G
c.416C>G (p.Thr139Arg)
c.78C>G
n.539C>G
n.279C>G
c.*136C>G (n.*136C>G)
c.413C>G (p.Thr138Arg)
3g.139350213C>TCA354760967MRPS22c.329C>T (p.Thr110Ile)
c.539C>T (p.Thr180Ile)
n.553C>T
c.158C>T (p.Thr53Ile)
c.*180C>T (n.*180C>T)
n.2407C>T
n.562C>T
c.536C>T (p.Thr179Ile)
c.554C>T (p.Thr185Ile)
c.632C>T
c.416C>T (p.Thr139Ile)
c.78C>T
n.539C>T
n.279C>T
c.*136C>T (n.*136C>T)
c.413C>T (p.Thr138Ile)
3g.139350214A=CA1405584396MRPS22c.330A= (p.Thr110=)
c.540A= (p.Thr180=)
n.554A=
c.159A= (p.Thr53=)
c.*181A= (n.*181A=)
n.2408A=
n.563A=
c.537A= (p.Thr179=)
c.555A= (p.Thr185=)
c.633A=
c.417A= (p.Thr139=)
c.79A=
n.540A=
n.280A=
c.*137A= (n.*137A=)
c.414A= (p.Thr138=)
3g.139350214A>CCA435881953MRPS22c.330A>C (p.Thr110=)
c.540A>C (p.Thr180=)
n.554A>C
c.159A>C (p.Thr53=)
c.*181A>C (n.*181A>C)
n.2408A>C
n.563A>C
c.537A>C (p.Thr179=)
c.555A>C (p.Thr185=)
c.633A>C
c.417A>C (p.Thr139=)
c.79A>C
n.540A>C
n.280A>C
c.*137A>C (n.*137A>C)
c.414A>C (p.Thr138=)
 ClinVar dbSNP
3g.139350214A>GCA435881951MRPS22c.330A>G (p.Thr110=)
c.540A>G (p.Thr180=)
n.554A>G
c.159A>G (p.Thr53=)
c.*181A>G (n.*181A>G)
n.2408A>G
n.563A>G
c.537A>G (p.Thr179=)
c.555A>G (p.Thr185=)
c.633A>G
c.417A>G (p.Thr139=)
c.79A>G
n.540A>G
n.280A>G
c.*137A>G (n.*137A>G)
c.414A>G (p.Thr138=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.139350214A>TCA2640748MRPS22c.330A>T (p.Thr110=)
c.540A>T (p.Thr180=)
n.554A>T
c.159A>T (p.Thr53=)
c.*181A>T (n.*181A>T)
n.2408A>T
n.563A>T
c.537A>T (p.Thr179=)
c.555A>T (p.Thr185=)
c.633A>T
c.417A>T (p.Thr139=)
c.79A>T
n.540A>T
n.280A>T
c.*137A>T (n.*137A>T)
c.414A>T (p.Thr138=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.139350215C>ACA354760970MRPS22c.331C>A (p.Leu111Ile)
c.541C>A (p.Leu181Ile)
n.555C>A
c.160C>A (p.Leu54Ile)
c.*182C>A (n.*182C>A)
n.2409C>A
n.564C>A
c.538C>A (p.Leu180Ile)
c.556C>A (p.Leu186Ile)
c.634C>A
c.418C>A (p.Leu140Ile)
c.80C>A
n.541C>A
n.281C>A
c.*138C>A (n.*138C>A)
c.415C>A (p.Leu139Ile)
3g.139350215C=CA1405584397MRPS22c.331C= (p.Leu111=)
c.541C= (p.Leu181=)
n.555C=
c.160C= (p.Leu54=)
c.*182C= (n.*182C=)
n.2409C=
n.564C=
c.538C= (p.Leu180=)
c.556C= (p.Leu186=)
c.634C=
c.418C= (p.Leu140=)
c.80C=
n.541C=
n.281C=
c.*138C= (n.*138C=)
c.415C= (p.Leu139=)
3g.139350215C>GCA354760972MRPS22c.331C>G (p.Leu111Val)
c.541C>G (p.Leu181Val)
n.555C>G
c.160C>G (p.Leu54Val)
c.*182C>G (n.*182C>G)
n.2409C>G
n.564C>G
c.538C>G (p.Leu180Val)
c.556C>G (p.Leu186Val)
c.634C>G
c.418C>G (p.Leu140Val)
c.80C>G
n.541C>G
n.281C>G
c.*138C>G (n.*138C>G)
c.415C>G (p.Leu139Val)
 dbSNP gnomAD v4
3g.139350215C>TCA2640749MRPS22c.331C>T (p.Leu111=)
c.541C>T (p.Leu181=)
n.555C>T
c.160C>T (p.Leu54=)
c.*182C>T (n.*182C>T)
n.2409C>T
n.564C>T
c.538C>T (p.Leu180=)
c.556C>T (p.Leu186=)
c.634C>T
c.418C>T (p.Leu140=)
c.80C>T
n.541C>T
n.281C>T
c.*138C>T (n.*138C>T)
c.415C>T (p.Leu139=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.139350216T>ACA354760976MRPS22c.332T>A (p.Leu111Gln)
c.542T>A (p.Leu181Gln)
n.556T>A
c.161T>A (p.Leu54Gln)
c.*183T>A (n.*183T>A)
n.2410T>A
n.565T>A
c.539T>A (p.Leu180Gln)
c.557T>A (p.Leu186Gln)
c.635T>A
c.419T>A (p.Leu140Gln)
c.81T>A
n.542T>A
n.282T>A
c.*139T>A (n.*139T>A)
c.416T>A (p.Leu139Gln)
3g.139350216T>CCA354760974MRPS22c.332T>C (p.Leu111Pro)
c.542T>C (p.Leu181Pro)
n.556T>C
c.161T>C (p.Leu54Pro)
c.*183T>C (n.*183T>C)
n.2410T>C
n.565T>C
c.539T>C (p.Leu180Pro)
c.557T>C (p.Leu186Pro)
c.635T>C
c.419T>C (p.Leu140Pro)
c.81T>C
n.542T>C
n.282T>C
c.*139T>C (n.*139T>C)
c.416T>C (p.Leu139Pro)
3g.139350216T>GCA354760975MRPS22c.332T>G (p.Leu111Arg)
c.542T>G (p.Leu181Arg)
n.556T>G
c.161T>G (p.Leu54Arg)
c.*183T>G (n.*183T>G)
n.2410T>G
n.565T>G
c.539T>G (p.Leu180Arg)
c.557T>G (p.Leu186Arg)
c.635T>G
c.419T>G (p.Leu140Arg)
c.81T>G
n.542T>G
n.282T>G
c.*139T>G (n.*139T>G)
c.416T>G (p.Leu139Arg)
3g.139350217A>CCA435881969MRPS22c.333A>C (p.Leu111=)
c.543A>C (p.Leu181=)
n.557A>C
c.162A>C (p.Leu54=)
c.*184A>C (n.*184A>C)
n.2411A>C
n.566A>C
c.540A>C (p.Leu180=)
c.558A>C (p.Leu186=)
c.636A>C
c.420A>C (p.Leu140=)
c.82A>C
n.543A>C
n.283A>C
c.*140A>C (n.*140A>C)
c.417A>C (p.Leu139=)
3g.139350217A>GCA435881972MRPS22c.333A>G (p.Leu111=)
c.543A>G (p.Leu181=)
n.557A>G
c.162A>G (p.Leu54=)
c.*184A>G (n.*184A>G)
n.2411A>G
n.566A>G
c.540A>G (p.Leu180=)
c.558A>G (p.Leu186=)
c.636A>G
c.420A>G (p.Leu140=)
c.82A>G
n.543A>G
n.283A>G
c.*140A>G (n.*140A>G)
c.417A>G (p.Leu139=)
3g.139350217A>TCA435881975MRPS22c.333A>T (p.Leu111=)
c.543A>T (p.Leu181=)
n.557A>T
c.162A>T (p.Leu54=)
c.*184A>T (n.*184A>T)
n.2411A>T
n.566A>T
c.540A>T (p.Leu180=)
c.558A>T (p.Leu186=)
c.636A>T
c.420A>T (p.Leu140=)
c.82A>T
n.543A>T
n.283A>T
c.*140A>T (n.*140A>T)
c.417A>T (p.Leu139=)
3g.139350217_139350218delinsACCA1405584399MRPS22c.333_334delinsAC (p.Leu111=)
c.543_544delinsAC (p.Leu181=)
n.557_558delinsAC
c.162_163delinsAC (p.Leu54=)
c.*184_*185delinsAC (n.*184_*185delinsAC)
n.2411_2412delinsAC
n.566_567delinsAC
c.540_541delinsAC (p.Leu180=)
c.558_559delinsAC (p.Leu186=)
c.636_637delinsAC
c.420_421delinsAC (p.Leu140=)
c.82_83delinsAC
n.543_544delinsAC
n.283_284delinsAC
c.*140_*141delinsAC (n.*140_*141delinsAC)
c.417_418delinsAC (p.Leu139=)
3g.139350217_139350219delinsACGCA1405584398MRPS22c.333_335delinsACG (p.Leu111=)
c.543_545delinsACG (p.Leu181=)
n.557_559delinsACG
c.162_164delinsACG (p.Leu54=)
c.*184_*186delinsACG (n.*184_*186delinsACG)
n.2411_2413delinsACG
n.566_568delinsACG
c.540_542delinsACG (p.Leu180=)
c.558_560delinsACG (p.Leu186=)
c.636_638delinsACG
c.420_422delinsACG (p.Leu140=)
c.82_84delinsACG
n.543_545delinsACG
n.283_285delinsACG
c.*140_*142delinsACG (n.*140_*142delinsACG)
c.417_419delinsACG (p.Leu139=)
3g.139350218delCA899647667MRPS22c.334del (p.Arg112AlafsTer11)
c.544del (p.Arg182AlafsTer11)
n.558del
c.163del (p.Arg55AlafsTer11)
c.*185del (n.*185del)
n.2412del
n.567del
c.541del (p.Arg181AlafsTer11)
c.559del (p.Arg187AlafsTer11)
c.637del
c.421del (p.Arg141AlafsTer11)
c.83del
n.544del
n.284del
c.*141del (n.*141del)
c.418del (p.Arg140AlafsTer11)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.139350218C>ACA354760977MRPS22c.334C>A (p.Arg112Ser)
c.544C>A (p.Arg182Ser)
n.558C>A
c.163C>A (p.Arg55Ser)
c.*185C>A (n.*185C>A)
n.2412C>A
n.567C>A
c.541C>A (p.Arg181Ser)
c.559C>A (p.Arg187Ser)
c.637C>A
c.421C>A (p.Arg141Ser)
c.83C>A
n.544C>A
n.284C>A
c.*141C>A (n.*141C>A)
c.418C>A (p.Arg140Ser)
3g.139350218C=CA1405584400MRPS22c.334C= (p.Arg112=)
c.544C= (p.Arg182=)
n.558C=
c.163C= (p.Arg55=)
c.*185C= (n.*185C=)
n.2412C=
n.567C=
c.541C= (p.Arg181=)
c.559C= (p.Arg187=)
c.637C=
c.421C= (p.Arg141=)
c.83C=
n.544C=
n.284C=
c.*141C= (n.*141C=)
c.418C= (p.Arg140=)
3g.139350218C>GCA2640750MRPS22c.334C>G (p.Arg112Gly)
c.544C>G (p.Arg182Gly)
n.558C>G
c.163C>G (p.Arg55Gly)
c.*185C>G (n.*185C>G)
n.2412C>G
n.567C>G
c.541C>G (p.Arg181Gly)
c.559C>G (p.Arg187Gly)
c.637C>G
c.421C>G (p.Arg141Gly)
c.83C>G
n.544C>G
n.284C>G
c.*141C>G (n.*141C>G)
c.418C>G (p.Arg140Gly)
 dbSNP ExAC gnomAD v2
3g.139350218C>TCA83994473MRPS22c.334C>T (p.Arg112Cys)
c.544C>T (p.Arg182Cys)
n.558C>T
c.163C>T (p.Arg55Cys)
c.*185C>T (n.*185C>T)
n.2412C>T
n.567C>T
c.541C>T (p.Arg181Cys)
c.559C>T (p.Arg187Cys)
c.637C>T
c.421C>T (p.Arg141Cys)
c.83C>T
n.544C>T
n.284C>T
c.*141C>T (n.*141C>T)
c.418C>T (p.Arg140Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.139350219_139350220delCA546525616MRPS22c.335_336del (p.Arg112GlnfsTer21)
c.545_546del (p.Arg182GlnfsTer21)
n.559_560del
c.164_165del (p.Arg55GlnfsTer21)
c.335_336del (p.Arg112GlnfsTer?)
c.*186_*187del (n.*186_*187del)
n.2413_2414del
n.568_569del
c.542_543del (p.Arg181GlnfsTer21)
c.560_561del (p.Arg187GlnfsTer?)
c.638_639del
c.422_423del (p.Arg141GlnfsTer21)
c.84_85del
n.545_546del
n.285_286del
c.*142_*143del (n.*142_*143del)
c.419_420del (p.Arg140GlnfsTer21)
 dbSNP gnomAD v2 gnomAD v4
3g.139350219G>ACA354760979MRPS22c.335G>A (p.Arg112His)
c.545G>A (p.Arg182His)
n.559G>A
c.164G>A (p.Arg55His)
c.*186G>A (n.*186G>A)
n.2413G>A
n.568G>A
c.542G>A (p.Arg181His)
c.560G>A (p.Arg187His)
c.638G>A
c.422G>A (p.Arg141His)
c.84G>A
n.545G>A
n.285G>A
c.*142G>A (n.*142G>A)
c.419G>A (p.Arg140His)
 dbSNP gnomAD v2 gnomAD v4
3g.139350219G>CCA354760981MRPS22c.335G>C (p.Arg112Pro)
c.545G>C (p.Arg182Pro)
n.559G>C
c.164G>C (p.Arg55Pro)
c.*186G>C (n.*186G>C)
n.2413G>C
n.568G>C
c.542G>C (p.Arg181Pro)
c.560G>C (p.Arg187Pro)
c.638G>C
c.422G>C (p.Arg141Pro)
c.84G>C
n.545G>C
n.285G>C
c.*142G>C (n.*142G>C)
c.419G>C (p.Arg140Pro)
3g.139350219G=CA1405584401MRPS22c.335G= (p.Arg112=)
c.545G= (p.Arg182=)
n.559G=
c.164G= (p.Arg55=)
c.*186G= (n.*186G=)
n.2413G=
n.568G=
c.542G= (p.Arg181=)
c.560G= (p.Arg187=)
c.638G=
c.422G= (p.Arg141=)
c.84G=
n.545G=
n.285G=
c.*142G= (n.*142G=)
c.419G= (p.Arg140=)
3g.139350219G>TCA354760982MRPS22c.335G>T (p.Arg112Leu)
c.545G>T (p.Arg182Leu)
n.559G>T
c.164G>T (p.Arg55Leu)
c.*186G>T (n.*186G>T)
n.2413G>T
n.568G>T
c.542G>T (p.Arg181Leu)
c.560G>T (p.Arg187Leu)
c.638G>T
c.422G>T (p.Arg141Leu)
c.84G>T
n.545G>T
n.285G>T
c.*142G>T (n.*142G>T)
c.419G>T (p.Arg140Leu)
 dbSNP gnomAD v4
3g.139350220C>ACA435881995MRPS22c.336C>A (p.Arg112=)
c.546C>A (p.Arg182=)
n.560C>A
c.165C>A (p.Arg55=)
c.*187C>A (n.*187C>A)
n.2414C>A
n.569C>A
c.543C>A (p.Arg181=)
c.561C>A (p.Arg187=)
c.639C>A
c.423C>A (p.Arg141=)
c.85C>A
n.546C>A
n.286C>A
c.*143C>A (n.*143C>A)
c.420C>A (p.Arg140=)
3g.139350220C>GCA435882000MRPS22c.336C>G (p.Arg112=)
c.546C>G (p.Arg182=)
n.560C>G
c.165C>G (p.Arg55=)
c.*187C>G (n.*187C>G)
n.2414C>G
n.569C>G
c.543C>G (p.Arg181=)
c.561C>G (p.Arg187=)
c.639C>G
c.423C>G (p.Arg141=)
c.85C>G
n.546C>G
n.286C>G
c.*143C>G (n.*143C>G)
c.420C>G (p.Arg140=)
3g.139350220C>TCA435881998MRPS22c.336C>T (p.Arg112=)
c.546C>T (p.Arg182=)
n.560C>T
c.165C>T (p.Arg55=)
c.*187C>T (n.*187C>T)
n.2414C>T
n.569C>T
c.543C>T (p.Arg181=)
c.561C>T (p.Arg187=)
c.639C>T
c.423C>T (p.Arg141=)
c.85C>T
n.546C>T
n.286C>T
c.*143C>T (n.*143C>T)
c.420C>T (p.Arg140=)
3g.139350221A>CCA354760984MRPS22c.337A>C (p.Lys113Gln)
c.547A>C (p.Lys183Gln)
n.561A>C
c.166A>C (p.Lys56Gln)
c.*188A>C (n.*188A>C)
n.2415A>C
n.570A>C
c.544A>C (p.Lys182Gln)
c.562A>C (p.Lys188Gln)
c.640A>C
c.424A>C (p.Lys142Gln)
c.86A>C
n.547A>C
n.287A>C
c.*144A>C (n.*144A>C)
c.421A>C (p.Lys141Gln)
 dbSNP
3g.139350221A>GCA354760986MRPS22c.337A>G (p.Lys113Glu)
c.547A>G (p.Lys183Glu)
n.561A>G
c.166A>G (p.Lys56Glu)
c.*188A>G (n.*188A>G)
n.2415A>G
n.570A>G
c.544A>G (p.Lys182Glu)
c.562A>G (p.Lys188Glu)
c.640A>G
c.424A>G (p.Lys142Glu)
c.86A>G
n.547A>G
n.287A>G
c.*144A>G (n.*144A>G)
c.421A>G (p.Lys141Glu)
3g.139350221A>TCA354760987MRPS22c.337A>T (p.Lys113Ter)
c.547A>T (p.Lys183Ter)
n.561A>T
c.166A>T (p.Lys56Ter)
c.*188A>T (n.*188A>T)
n.2415A>T
n.570A>T
c.544A>T (p.Lys182Ter)
c.562A>T (p.Lys188Ter)
c.640A>T
c.424A>T (p.Lys142Ter)
c.86A>T
n.547A>T
n.287A>T
c.*144A>T (n.*144A>T)
c.421A>T (p.Lys141Ter)
3g.139350222A>CCA354760989MRPS22c.338A>C (p.Lys113Thr)
c.548A>C (p.Lys183Thr)
n.562A>C
c.167A>C (p.Lys56Thr)
c.*189A>C (n.*189A>C)
n.2416A>C
n.571A>C
c.545A>C (p.Lys182Thr)
c.563A>C (p.Lys188Thr)
c.641A>C
c.425A>C (p.Lys142Thr)
c.87A>C
n.548A>C
n.288A>C
c.*145A>C (n.*145A>C)
c.422A>C (p.Lys141Thr)
3g.139350222A>GCA354760990MRPS22c.338A>G (p.Lys113Arg)
c.548A>G (p.Lys183Arg)
n.562A>G
c.167A>G (p.Lys56Arg)
c.*189A>G (n.*189A>G)
n.2416A>G
n.571A>G
c.545A>G (p.Lys182Arg)
c.563A>G (p.Lys188Arg)
c.641A>G
c.425A>G (p.Lys142Arg)
c.87A>G
n.548A>G
n.288A>G
c.*145A>G (n.*145A>G)
c.422A>G (p.Lys141Arg)
3g.139350222A>TCA354760991MRPS22c.338A>T (p.Lys113Ile)
c.548A>T (p.Lys183Ile)
n.562A>T
c.167A>T (p.Lys56Ile)
c.*189A>T (n.*189A>T)
n.2416A>T
n.571A>T
c.545A>T (p.Lys182Ile)
c.563A>T (p.Lys188Ile)
c.641A>T
c.425A>T (p.Lys142Ile)
c.87A>T
n.548A>T
n.288A>T
c.*145A>T (n.*145A>T)
c.422A>T (p.Lys141Ile)
3g.139350223A=CA1405584402MRPS22c.339A= (p.Lys113=)
c.549A= (p.Lys183=)
n.563A=
c.168A= (p.Lys56=)
c.*190A= (n.*190A=)
n.2417A=
n.572A=
c.546A= (p.Lys182=)
c.564A= (p.Lys188=)
c.642A=
c.426A= (p.Lys142=)
c.88A=
n.549A=
n.289A=
c.*146A= (n.*146A=)
c.423A= (p.Lys141=)
3g.139350223A>CCA354760993MRPS22c.339A>C (p.Lys113Asn)
c.549A>C (p.Lys183Asn)
n.563A>C
c.168A>C (p.Lys56Asn)
c.*190A>C (n.*190A>C)
n.2417A>C
n.572A>C
c.546A>C (p.Lys182Asn)
c.564A>C (p.Lys188Asn)
c.642A>C
c.426A>C (p.Lys142Asn)
c.88A>C
n.549A>C
n.289A>C
c.*146A>C (n.*146A>C)
c.423A>C (p.Lys141Asn)
3g.139350223A>GCA435882019MRPS22c.339A>G (p.Lys113=)
c.549A>G (p.Lys183=)
n.563A>G
c.168A>G (p.Lys56=)
c.*190A>G (n.*190A>G)
n.2417A>G
n.572A>G
c.546A>G (p.Lys182=)
c.564A>G (p.Lys188=)
c.642A>G
c.426A>G (p.Lys142=)
c.88A>G
n.549A>G
n.289A>G
c.*146A>G (n.*146A>G)
c.423A>G (p.Lys141=)
3g.139350223A>TCA2640751MRPS22c.339A>T (p.Lys113Asn)
c.549A>T (p.Lys183Asn)
n.563A>T
c.168A>T (p.Lys56Asn)
c.*190A>T (n.*190A>T)
n.2417A>T
n.572A>T
c.546A>T (p.Lys182Asn)
c.564A>T (p.Lys188Asn)
c.642A>T
c.426A>T (p.Lys142Asn)
c.88A>T
n.549A>T
n.289A>T
c.*146A>T (n.*146A>T)
c.423A>T (p.Lys141Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.139350224G>ACA354760995MRPS22c.340G>A (p.Ala114Thr)
c.550G>A (p.Ala184Thr)
n.564G>A
c.169G>A (p.Ala57Thr)
c.*191G>A (n.*191G>A)
n.2418G>A
n.573G>A
c.547G>A (p.Ala183Thr)
c.565G>A (p.Ala189Thr)
c.643G>A
c.427G>A (p.Ala143Thr)
c.89G>A
n.550G>A
n.290G>A
c.*147G>A (n.*147G>A)
c.424G>A (p.Ala142Thr)
3g.139350224G>CCA354760997MRPS22c.340G>C (p.Ala114Pro)
c.550G>C (p.Ala184Pro)
n.564G>C
c.169G>C (p.Ala57Pro)
c.*191G>C (n.*191G>C)
n.2418G>C
n.573G>C
c.547G>C (p.Ala183Pro)
c.565G>C (p.Ala189Pro)
c.643G>C
c.427G>C (p.Ala143Pro)
c.89G>C
n.550G>C
n.290G>C
c.*147G>C (n.*147G>C)
c.424G>C (p.Ala142Pro)
3g.139350224G=CA1405584403MRPS22c.340G= (p.Ala114=)
c.550G= (p.Ala184=)
n.564G=
c.169G= (p.Ala57=)
c.*191G= (n.*191G=)
n.2418G=
n.573G=
c.547G= (p.Ala183=)
c.565G= (p.Ala189=)
c.643G=
c.427G= (p.Ala143=)
c.89G=
n.550G=
n.290G=
c.*147G= (n.*147G=)
c.424G= (p.Ala142=)
3g.139350224G>TCA354760998MRPS22c.340G>T (p.Ala114Ser)
c.550G>T (p.Ala184Ser)
n.564G>T
c.169G>T (p.Ala57Ser)
c.*191G>T (n.*191G>T)
n.2418G>T
n.573G>T
c.547G>T (p.Ala183Ser)
c.565G>T (p.Ala189Ser)
c.643G>T
c.427G>T (p.Ala143Ser)
c.89G>T
n.550G>T
n.290G>T
c.*147G>T (n.*147G>T)
c.424G>T (p.Ala142Ser)
 dbSNP
3g.139350225C>ACA354761000MRPS22c.341C>A (p.Ala114Asp)
c.551C>A (p.Ala184Asp)
n.565C>A
c.170C>A (p.Ala57Asp)
c.*192C>A (n.*192C>A)
n.2419C>A
n.574C>A
c.548C>A (p.Ala183Asp)
c.566C>A (p.Ala189Asp)
c.644C>A
c.428C>A (p.Ala143Asp)
c.90C>A
n.551C>A
n.291C>A
c.*148C>A (n.*148C>A)
c.425C>A (p.Ala142Asp)
3g.139350225C>GCA354761002MRPS22c.341C>G (p.Ala114Gly)
c.551C>G (p.Ala184Gly)
n.565C>G
c.170C>G (p.Ala57Gly)
c.*192C>G (n.*192C>G)
n.2419C>G
n.574C>G
c.548C>G (p.Ala183Gly)
c.566C>G (p.Ala189Gly)
c.644C>G
c.428C>G (p.Ala143Gly)
c.90C>G
n.551C>G
n.291C>G
c.*148C>G (n.*148C>G)
c.425C>G (p.Ala142Gly)
3g.139350225C>TCA354761004MRPS22c.341C>T (p.Ala114Val)
c.551C>T (p.Ala184Val)
n.565C>T
c.170C>T (p.Ala57Val)
c.*192C>T (n.*192C>T)
n.2419C>T
n.574C>T
c.548C>T (p.Ala183Val)
c.566C>T (p.Ala189Val)
c.644C>T
c.428C>T (p.Ala143Val)
c.90C>T
n.551C>T
n.291C>T
c.*148C>T (n.*148C>T)
c.425C>T (p.Ala142Val)
 gnomAD v4
3g.139350226C>ACA435882040MRPS22c.342C>A (p.Ala114=)
c.552C>A (p.Ala184=)
n.566C>A
c.171C>A (p.Ala57=)
c.*193C>A (n.*193C>A)
n.2420C>A
n.575C>A
c.549C>A (p.Ala183=)
c.567C>A (p.Ala189=)
c.645C>A
c.429C>A (p.Ala143=)
c.91C>A
n.552C>A
n.292C>A
c.*149C>A (n.*149C>A)
c.426C>A (p.Ala142=)
 gnomAD v4
3g.139350226C>GCA435882045MRPS22c.342C>G (p.Ala114=)
c.552C>G (p.Ala184=)
n.566C>G
c.171C>G (p.Ala57=)
c.*193C>G (n.*193C>G)
n.2420C>G
n.575C>G
c.549C>G (p.Ala183=)
c.567C>G (p.Ala189=)
c.645C>G
c.429C>G (p.Ala143=)
c.91C>G
n.552C>G
n.292C>G
c.*149C>G (n.*149C>G)
c.426C>G (p.Ala142=)
3g.139350226C>TCA435882043MRPS22c.342C>T (p.Ala114=)
c.552C>T (p.Ala184=)
n.566C>T
c.171C>T (p.Ala57=)
c.*193C>T (n.*193C>T)
n.2420C>T
n.575C>T
c.549C>T (p.Ala183=)
c.567C>T (p.Ala189=)
c.645C>T
c.429C>T (p.Ala143=)
c.91C>T
n.552C>T
n.292C>T
c.*149C>T (n.*149C>T)
c.426C>T (p.Ala142=)
3g.139350227T>ACA354761006MRPS22c.343T>A (p.Ser115Thr)
c.553T>A (p.Ser185Thr)
n.567T>A
c.172T>A (p.Ser58Thr)
c.*194T>A (n.*194T>A)
n.2421T>A
n.576T>A
c.550T>A (p.Ser184Thr)
c.568T>A (p.Ser190Thr)
c.646T>A
c.430T>A (p.Ser144Thr)
c.92T>A
n.553T>A
n.293T>A
c.*150T>A (n.*150T>A)
c.427T>A (p.Ser143Thr)
3g.139350227T>CCA354761007MRPS22c.343T>C (p.Ser115Pro)
c.553T>C (p.Ser185Pro)
n.567T>C
c.172T>C (p.Ser58Pro)
c.*194T>C (n.*194T>C)
n.2421T>C
n.576T>C
c.550T>C (p.Ser184Pro)
c.568T>C (p.Ser190Pro)
c.646T>C
c.430T>C (p.Ser144Pro)
c.92T>C
n.553T>C
n.293T>C
c.*150T>C (n.*150T>C)
c.427T>C (p.Ser143Pro)
3g.139350227T>GCA354761009MRPS22c.343T>G (p.Ser115Ala)
c.553T>G (p.Ser185Ala)
n.567T>G
c.172T>G (p.Ser58Ala)
c.*194T>G (n.*194T>G)
n.2421T>G
n.576T>G
c.550T>G (p.Ser184Ala)
c.568T>G (p.Ser190Ala)
c.646T>G
c.430T>G (p.Ser144Ala)
c.92T>G
n.553T>G
n.293T>G
c.*150T>G (n.*150T>G)
c.427T>G (p.Ser143Ala)
3g.139350228C>ACA354761010MRPS22c.344C>A (p.Ser115Tyr)
c.554C>A (p.Ser185Tyr)
n.568C>A
c.173C>A (p.Ser58Tyr)
c.*195C>A (n.*195C>A)
n.2422C>A
n.577C>A
c.551C>A (p.Ser184Tyr)
c.569C>A (p.Ser190Tyr)
c.647C>A
c.431C>A (p.Ser144Tyr)
c.93C>A
n.554C>A
n.294C>A
c.*151C>A (n.*151C>A)
c.428C>A (p.Ser143Tyr)
3g.139350228C=CA1405584404MRPS22c.344C= (p.Ser115=)
c.554C= (p.Ser185=)
n.568C=
c.173C= (p.Ser58=)
c.*195C= (n.*195C=)
n.2422C=
n.577C=
c.551C= (p.Ser184=)
c.569C= (p.Ser190=)
c.647C=
c.431C= (p.Ser144=)
c.93C=
n.554C=
n.294C=
c.*151C= (n.*151C=)
c.428C= (p.Ser143=)
3g.139350228C>GCA354761011MRPS22c.344C>G (p.Ser115Cys)
c.554C>G (p.Ser185Cys)
n.568C>G
c.173C>G (p.Ser58Cys)
c.*195C>G (n.*195C>G)
n.2422C>G
n.577C>G
c.551C>G (p.Ser184Cys)
c.569C>G (p.Ser190Cys)
c.647C>G
c.431C>G (p.Ser144Cys)
c.93C>G
n.554C>G
n.294C>G
c.*151C>G (n.*151C>G)
c.428C>G (p.Ser143Cys)
3g.139350228C>TCA354761012MRPS22c.344C>T (p.Ser115Phe)
c.554C>T (p.Ser185Phe)
n.568C>T
c.173C>T (p.Ser58Phe)
c.*195C>T (n.*195C>T)
n.2422C>T
n.577C>T
c.551C>T (p.Ser184Phe)
c.569C>T (p.Ser190Phe)
c.647C>T
c.431C>T (p.Ser144Phe)
c.93C>T
n.554C>T
n.294C>T
c.*151C>T (n.*151C>T)
c.428C>T (p.Ser143Phe)
 dbSNP gnomAD v3 gnomAD v4
3g.139350229T>ACA435882059MRPS22c.345T>A (p.Ser115=)
c.555T>A (p.Ser185=)
n.569T>A
c.174T>A (p.Ser58=)
c.*196T>A (n.*196T>A)
n.2423T>A
n.578T>A
c.552T>A (p.Ser184=)
c.570T>A (p.Ser190=)
c.648T>A
c.432T>A (p.Ser144=)
c.94T>A
n.555T>A
n.295T>A
c.*152T>A (n.*152T>A)
c.429T>A (p.Ser143=)
3g.139350229T>CCA435882062MRPS22c.345T>C (p.Ser115=)
c.555T>C (p.Ser185=)
n.569T>C
c.174T>C (p.Ser58=)
c.*196T>C (n.*196T>C)
n.2423T>C
n.578T>C
c.552T>C (p.Ser184=)
c.570T>C (p.Ser190=)
c.648T>C
c.432T>C (p.Ser144=)
c.94T>C
n.555T>C
n.295T>C
c.*152T>C (n.*152T>C)
c.429T>C (p.Ser143=)
3g.139350229T>GCA435882065MRPS22c.345T>G (p.Ser115=)
c.555T>G (p.Ser185=)
n.569T>G
c.174T>G (p.Ser58=)
c.*196T>G (n.*196T>G)
n.2423T>G
n.578T>G
c.552T>G (p.Ser184=)
c.570T>G (p.Ser190=)
c.648T>G
c.432T>G (p.Ser144=)
c.94T>G
n.555T>G
n.295T>G
c.*152T>G (n.*152T>G)
c.429T>G (p.Ser143=)
3g.139350230T>ACA354761016MRPS22c.346T>A (p.Trp116Arg)
c.556T>A (p.Trp186Arg)
n.570T>A
c.175T>A (p.Trp59Arg)
c.*197T>A (n.*197T>A)
n.2424T>A
n.579T>A
c.553T>A (p.Trp185Arg)
c.571T>A (p.Trp191Arg)
c.649T>A
c.433T>A (p.Trp145Arg)
c.95T>A
n.556T>A
n.296T>A
c.*153T>A (n.*153T>A)
c.430T>A (p.Trp144Arg)
3g.139350230T>CCA354761015MRPS22c.346T>C (p.Trp116Arg)
c.556T>C (p.Trp186Arg)
n.570T>C
c.175T>C (p.Trp59Arg)
c.*197T>C (n.*197T>C)
n.2424T>C
n.579T>C
c.553T>C (p.Trp185Arg)
c.571T>C (p.Trp191Arg)
c.649T>C
c.433T>C (p.Trp145Arg)
c.95T>C
n.556T>C
n.296T>C
c.*153T>C (n.*153T>C)
c.430T>C (p.Trp144Arg)
3g.139350230T>GCA354761014MRPS22c.346T>G (p.Trp116Gly)
c.556T>G (p.Trp186Gly)
n.570T>G
c.175T>G (p.Trp59Gly)
c.*197T>G (n.*197T>G)
n.2424T>G
n.579T>G
c.553T>G (p.Trp185Gly)
c.571T>G (p.Trp191Gly)
c.649T>G
c.433T>G (p.Trp145Gly)
c.95T>G
n.556T>G
n.296T>G
c.*153T>G (n.*153T>G)
c.430T>G (p.Trp144Gly)
3g.139350231G>ACA354761018MRPS22c.347G>A (p.Trp116Ter)
c.557G>A (p.Trp186Ter)
n.571G>A
c.176G>A (p.Trp59Ter)
c.*198G>A (n.*198G>A)
n.2425G>A
n.580G>A
c.554G>A (p.Trp185Ter)
c.572G>A (p.Trp191Ter)
c.650G>A
c.434G>A (p.Trp145Ter)
c.96G>A
n.557G>A
n.297G>A
c.*154G>A (n.*154G>A)
c.431G>A (p.Trp144Ter)
3g.139350231G>CCA354761020MRPS22c.347G>C (p.Trp116Ser)
c.557G>C (p.Trp186Ser)
n.571G>C
c.176G>C (p.Trp59Ser)
c.*198G>C (n.*198G>C)
n.2425G>C
n.580G>C
c.554G>C (p.Trp185Ser)
c.572G>C (p.Trp191Ser)
c.650G>C
c.434G>C (p.Trp145Ser)
c.96G>C
n.557G>C
n.297G>C
c.*154G>C (n.*154G>C)
c.431G>C (p.Trp144Ser)
3g.139350231G>TCA354761022MRPS22c.347G>T (p.Trp116Leu)
c.557G>T (p.Trp186Leu)
n.571G>T
c.176G>T (p.Trp59Leu)
c.*198G>T (n.*198G>T)
n.2425G>T
n.580G>T
c.554G>T (p.Trp185Leu)
c.572G>T (p.Trp191Leu)
c.650G>T
c.434G>T (p.Trp145Leu)
c.96G>T
n.557G>T
n.297G>T
c.*154G>T (n.*154G>T)
c.431G>T (p.Trp144Leu)
3g.139350232G>ACA354761023MRPS22c.348G>A (p.Trp116Ter)
c.558G>A (p.Trp186Ter)
n.572G>A
c.177G>A (p.Trp59Ter)
c.*199G>A (n.*199G>A)
n.2426G>A
n.581G>A
c.555G>A (p.Trp185Ter)
c.573G>A (p.Trp191Ter)
c.651G>A
c.435G>A (p.Trp145Ter)
c.97G>A
n.558G>A
n.298G>A
c.*155G>A (n.*155G>A)
c.432G>A (p.Trp144Ter)
3g.139350232G>CCA354761024MRPS22c.348G>C (p.Trp116Cys)
c.558G>C (p.Trp186Cys)
n.572G>C
c.177G>C (p.Trp59Cys)
c.*199G>C (n.*199G>C)
n.2426G>C
n.581G>C
c.555G>C (p.Trp185Cys)
c.573G>C (p.Trp191Cys)
c.651G>C
c.435G>C (p.Trp145Cys)
c.97G>C
n.558G>C
n.298G>C
c.*155G>C (n.*155G>C)
c.432G>C (p.Trp144Cys)
3g.139350232G>TCA354761026MRPS22c.348G>T (p.Trp116Cys)
c.558G>T (p.Trp186Cys)
n.572G>T
c.177G>T (p.Trp59Cys)
c.*199G>T (n.*199G>T)
n.2426G>T
n.581G>T
c.555G>T (p.Trp185Cys)
c.573G>T (p.Trp191Cys)
c.651G>T
c.435G>T (p.Trp145Cys)
c.97G>T
n.558G>T
n.298G>T
c.*155G>T (n.*155G>T)
c.432G>T (p.Trp144Cys)
3g.139350233G>ACA354761029MRPS22c.349G>A (p.Glu117Lys)
c.559G>A (p.Glu187Lys)
n.573G>A
c.178G>A (p.Glu60Lys)
c.*200G>A (n.*200G>A)
n.2427G>A
n.582G>A
c.556G>A (p.Glu186Lys)
c.574G>A (p.Glu192Lys)
c.652G>A
c.436G>A (p.Glu146Lys)
c.98G>A
n.559G>A
n.299G>A
c.*156G>A (n.*156G>A)
c.433G>A (p.Glu145Lys)
 gnomAD v4
3g.139350233G>CCA354761030MRPS22c.349G>C (p.Glu117Gln)
c.559G>C (p.Glu187Gln)
n.573G>C
c.178G>C (p.Glu60Gln)
c.*200G>C (n.*200G>C)
n.2427G>C
n.582G>C
c.556G>C (p.Glu186Gln)
c.574G>C (p.Glu192Gln)
c.652G>C
c.436G>C (p.Glu146Gln)
c.98G>C
n.559G>C
n.299G>C
c.*156G>C (n.*156G>C)
c.433G>C (p.Glu145Gln)
3g.139350233G>TCA354761031MRPS22c.349G>T (p.Glu117Ter)
c.559G>T (p.Glu187Ter)
n.573G>T
c.178G>T (p.Glu60Ter)
c.*200G>T (n.*200G>T)
n.2427G>T
n.582G>T
c.556G>T (p.Glu186Ter)
c.574G>T (p.Glu192Ter)
c.652G>T
c.436G>T (p.Glu146Ter)
c.98G>T
n.559G>T
n.299G>T
c.*156G>T (n.*156G>T)
c.433G>T (p.Glu145Ter)
3g.139350233_139350234delinsGACA1405584405MRPS22c.349_350delinsGA (p.Glu117=)
c.559_560delinsGA (p.Glu187=)
n.573_574delinsGA
c.178_179delinsGA (p.Glu60=)
c.*200_*201delinsGA (n.*200_*201delinsGA)
n.2427_2428delinsGA
n.582_583delinsGA
c.556_557delinsGA (p.Glu186=)
c.574_575delinsGA (p.Glu192=)
c.652_653delinsGA
c.436_437delinsGA (p.Glu146=)
c.98_99delinsGA
n.559_560delinsGA
n.299_300delinsGA
c.*156_*157delinsGA (n.*156_*157delinsGA)
c.433_434delinsGA (p.Glu145=)
3g.139350234A>CCA354761034MRPS22c.350A>C (p.Glu117Ala)
c.560A>C (p.Glu187Ala)
n.574A>C
c.179A>C (p.Glu60Ala)
c.*201A>C (n.*201A>C)
n.2428A>C
n.583A>C
c.557A>C (p.Glu186Ala)
c.575A>C (p.Glu192Ala)
c.653A>C
c.437A>C (p.Glu146Ala)
c.99A>C
n.560A>C
n.300A>C
c.*157A>C (n.*157A>C)
c.434A>C (p.Glu145Ala)
 gnomAD v4
3g.139350234A>GCA354761035MRPS22c.350A>G (p.Glu117Gly)
c.560A>G (p.Glu187Gly)
n.574A>G
c.179A>G (p.Glu60Gly)
c.*201A>G (n.*201A>G)
n.2428A>G
n.583A>G
c.557A>G (p.Glu186Gly)
c.575A>G (p.Glu192Gly)
c.653A>G
c.437A>G (p.Glu146Gly)
c.99A>G
n.560A>G
n.300A>G
c.*157A>G (n.*157A>G)
c.434A>G (p.Glu145Gly)
3g.139350234A>TCA354761036MRPS22c.350A>T (p.Glu117Val)
c.560A>T (p.Glu187Val)
n.574A>T
c.179A>T (p.Glu60Val)
c.*201A>T (n.*201A>T)
n.2428A>T
n.583A>T
c.557A>T (p.Glu186Val)
c.575A>T (p.Glu192Val)
c.653A>T
c.437A>T (p.Glu146Val)
c.99A>T
n.560A>T
n.300A>T
c.*157A>T (n.*157A>T)
c.434A>T (p.Glu145Val)
3g.139350235delCA2640752MRPS22c.351del (p.Glu118AsnfsTer5)
c.561del (p.Glu188AsnfsTer5)
n.575del
c.180del (p.Glu61AsnfsTer5)
c.*202del (n.*202del)
n.2429del
n.584del
c.558del (p.Glu187AsnfsTer5)
c.576del (p.Glu193AsnfsTer5)
c.654del
c.438del (p.Glu147AsnfsTer5)
c.100del
n.561del
n.301del
c.*158del (n.*158del)
c.435del (p.Glu146AsnfsTer5)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.139350235A=CA1405584406MRPS22c.351A= (p.Glu117=)
c.561A= (p.Glu187=)
n.575A=
c.180A= (p.Glu60=)
c.*202A= (n.*202A=)
n.2429A=
n.584A=
c.558A= (p.Glu186=)
c.576A= (p.Glu192=)
c.654A=
c.438A= (p.Glu146=)
c.100A=
n.561A=
n.301A=
c.*158A= (n.*158A=)
c.435A= (p.Glu145=)
3g.139350235A>CCA354761040MRPS22c.351A>C (p.Glu117Asp)
c.561A>C (p.Glu187Asp)
n.575A>C
c.180A>C (p.Glu60Asp)
c.*202A>C (n.*202A>C)
n.2429A>C
n.584A>C
c.558A>C (p.Glu186Asp)
c.576A>C (p.Glu192Asp)
c.654A>C
c.438A>C (p.Glu146Asp)
c.100A>C
n.561A>C
n.301A>C
c.*158A>C (n.*158A>C)
c.435A>C (p.Glu145Asp)
3g.139350235A>GCA2640753MRPS22c.351A>G (p.Glu117=)
c.561A>G (p.Glu187=)
n.575A>G
c.180A>G (p.Glu60=)
c.*202A>G (n.*202A>G)
n.2429A>G
n.584A>G
c.558A>G (p.Glu186=)
c.576A>G (p.Glu192=)
c.654A>G
c.438A>G (p.Glu146=)
c.100A>G
n.561A>G
n.301A>G
c.*158A>G (n.*158A>G)
c.435A>G (p.Glu145=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.139350235A>TCA354761039MRPS22c.351A>T (p.Glu117Asp)
c.561A>T (p.Glu187Asp)
n.575A>T
c.180A>T (p.Glu60Asp)
c.*202A>T (n.*202A>T)
n.2429A>T
n.584A>T
c.558A>T (p.Glu186Asp)
c.576A>T (p.Glu192Asp)
c.654A>T
c.438A>T (p.Glu146Asp)
c.100A>T
n.561A>T
n.301A>T
c.*158A>T (n.*158A>T)
c.435A>T (p.Glu145Asp)
3g.139350236G>ACA354761042MRPS22c.352G>A (p.Glu118Lys)
c.562G>A (p.Glu188Lys)
n.576G>A
c.181G>A (p.Glu61Lys)
c.*203G>A (n.*203G>A)
n.2430G>A
n.585G>A
c.559G>A (p.Glu187Lys)
c.577G>A (p.Glu193Lys)
c.655G>A
c.439G>A (p.Glu147Lys)
c.101G>A
n.562G>A
n.302G>A
c.*159G>A (n.*159G>A)
c.436G>A (p.Glu146Lys)
3g.139350236G>CCA354761043MRPS22c.352G>C (p.Glu118Gln)
c.562G>C (p.Glu188Gln)
n.576G>C
c.181G>C (p.Glu61Gln)
c.*203G>C (n.*203G>C)
n.2430G>C
n.585G>C
c.559G>C (p.Glu187Gln)
c.577G>C (p.Glu193Gln)
c.655G>C
c.439G>C (p.Glu147Gln)
c.101G>C
n.562G>C
n.302G>C
c.*159G>C (n.*159G>C)
c.436G>C (p.Glu146Gln)
3g.139350236G>TCA354761045MRPS22c.352G>T (p.Glu118Ter)
c.562G>T (p.Glu188Ter)
n.576G>T
c.181G>T (p.Glu61Ter)
c.*203G>T (n.*203G>T)
n.2430G>T
n.585G>T
c.559G>T (p.Glu187Ter)
c.577G>T (p.Glu193Ter)
c.655G>T
c.439G>T (p.Glu147Ter)
c.101G>T
n.562G>T
n.302G>T
c.*159G>T (n.*159G>T)
c.436G>T (p.Glu146Ter)
3g.139350237A>CCA354761047MRPS22c.353A>C (p.Glu118Ala)
c.563A>C (p.Glu188Ala)
n.577A>C
c.182A>C (p.Glu61Ala)
c.*204A>C (n.*204A>C)
n.2431A>C
n.586A>C
c.560A>C (p.Glu187Ala)
c.578A>C (p.Glu193Ala)
c.656A>C
c.440A>C (p.Glu147Ala)
c.102A>C
n.563A>C
n.303A>C
c.*160A>C (n.*160A>C)
c.437A>C (p.Glu146Ala)
3g.139350237A>GCA354761049MRPS22c.353A>G (p.Glu118Gly)
c.563A>G (p.Glu188Gly)
n.577A>G
c.182A>G (p.Glu61Gly)
c.*204A>G (n.*204A>G)
n.2431A>G
n.586A>G
c.560A>G (p.Glu187Gly)
c.578A>G (p.Glu193Gly)
c.656A>G
c.440A>G (p.Glu147Gly)
c.102A>G
n.563A>G
n.303A>G
c.*160A>G (n.*160A>G)
c.437A>G (p.Glu146Gly)
3g.139350237A>TCA354761051MRPS22c.353A>T (p.Glu118Val)
c.563A>T (p.Glu188Val)
n.577A>T
c.182A>T (p.Glu61Val)
c.*204A>T (n.*204A>T)
n.2431A>T
n.586A>T
c.560A>T (p.Glu187Val)
c.578A>T (p.Glu193Val)
c.656A>T
c.440A>T (p.Glu147Val)
c.102A>T
n.563A>T
n.303A>T
c.*160A>T (n.*160A>T)
c.437A>T (p.Glu146Val)
3g.139350238A>CCA354761053MRPS22c.354A>C (p.Glu118Asp)
c.564A>C (p.Glu188Asp)
n.578A>C
c.183A>C (p.Glu61Asp)
c.*205A>C (n.*205A>C)
n.2432A>C
n.587A>C
c.561A>C (p.Glu187Asp)
c.579A>C (p.Glu193Asp)
c.657A>C
c.441A>C (p.Glu147Asp)
c.103A>C
n.564A>C
n.304A>C
c.*161A>C (n.*161A>C)
c.438A>C (p.Glu146Asp)
3g.139350238A>GCA435882130MRPS22c.354A>G (p.Glu118=)
c.564A>G (p.Glu188=)
n.578A>G
c.183A>G (p.Glu61=)
c.*205A>G (n.*205A>G)
n.2432A>G
n.587A>G
c.561A>G (p.Glu187=)
c.579A>G (p.Glu193=)
c.657A>G
c.441A>G (p.Glu147=)
c.103A>G
n.564A>G
n.304A>G
c.*161A>G (n.*161A>G)
c.438A>G (p.Glu146=)
3g.139350238A>TCA354761054MRPS22c.354A>T (p.Glu118Asp)
c.564A>T (p.Glu188Asp)
n.578A>T
c.183A>T (p.Glu61Asp)
c.*205A>T (n.*205A>T)
n.2432A>T
n.587A>T
c.561A>T (p.Glu187Asp)
c.579A>T (p.Glu193Asp)
c.657A>T
c.441A>T (p.Glu147Asp)
c.103A>T
n.564A>T
n.304A>T
c.*161A>T (n.*161A>T)
c.438A>T (p.Glu146Asp)
3g.139350239C>ACA435882135MRPS22c.355C>A (p.Arg119=)
c.565C>A (p.Arg189=)
n.579C>A
c.184C>A (p.Arg62=)
c.*206C>A (n.*206C>A)
n.2433C>A
n.588C>A
c.562C>A (p.Arg188=)
c.580C>A (p.Arg194=)
c.658C>A
c.442C>A (p.Arg148=)
c.104C>A
n.565C>A
n.305C>A
c.*162C>A (n.*162C>A)
c.439C>A (p.Arg147=)
3g.139350239C=CA1405584407MRPS22c.355C= (p.Arg119=)
c.565C= (p.Arg189=)
n.579C=
c.184C= (p.Arg62=)
c.*206C= (n.*206C=)
n.2433C=
n.588C=
c.562C= (p.Arg188=)
c.580C= (p.Arg194=)
c.658C=
c.442C= (p.Arg148=)
c.104C=
n.565C=
n.305C=
c.*162C= (n.*162C=)
c.439C= (p.Arg147=)
3g.139350239C>GCA354761056MRPS22c.355C>G (p.Arg119Gly)
c.565C>G (p.Arg189Gly)
n.579C>G
c.184C>G (p.Arg62Gly)
c.*206C>G (n.*206C>G)
n.2433C>G
n.588C>G
c.562C>G (p.Arg188Gly)
c.580C>G (p.Arg194Gly)
c.658C>G
c.442C>G (p.Arg148Gly)
c.104C>G
n.565C>G
n.305C>G
c.*162C>G (n.*162C>G)
c.439C>G (p.Arg147Gly)
 gnomAD v4
3g.139350239C>TCA2640754MRPS22c.355C>T (p.Arg119Trp)
c.565C>T (p.Arg189Trp)
n.579C>T
c.184C>T (p.Arg62Trp)
c.*206C>T (n.*206C>T)
n.2433C>T
n.588C>T
c.562C>T (p.Arg188Trp)
c.580C>T (p.Arg194Trp)
c.658C>T
c.442C>T (p.Arg148Trp)
c.104C>T
n.565C>T
n.305C>T
c.*162C>T (n.*162C>T)
c.439C>T (p.Arg147Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.139350240G>ACA354761058MRPS22c.356G>A (p.Arg119Gln)
c.566G>A (p.Arg189Gln)
n.580G>A
c.185G>A (p.Arg62Gln)
c.*207G>A (n.*207G>A)
n.2434G>A
n.589G>A
c.563G>A (p.Arg188Gln)
c.581G>A (p.Arg194Gln)
c.659G>A
c.443G>A (p.Arg148Gln)
c.105G>A
n.566G>A
n.306G>A
c.*163G>A (n.*163G>A)
c.440G>A (p.Arg147Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.139350240G>CCA354761059MRPS22c.356G>C (p.Arg119Pro)
c.566G>C (p.Arg189Pro)
n.580G>C
c.185G>C (p.Arg62Pro)
c.*207G>C (n.*207G>C)
n.2434G>C
n.589G>C
c.563G>C (p.Arg188Pro)
c.581G>C (p.Arg194Pro)
c.659G>C
c.443G>C (p.Arg148Pro)
c.105G>C
n.566G>C
n.306G>C
c.*163G>C (n.*163G>C)
c.440G>C (p.Arg147Pro)
3g.139350240G=CA1405584408MRPS22c.356G= (p.Arg119=)
c.566G= (p.Arg189=)
n.580G=
c.185G= (p.Arg62=)
c.*207G= (n.*207G=)
n.2434G=
n.589G=
c.563G= (p.Arg188=)
c.581G= (p.Arg194=)
c.659G=
c.443G= (p.Arg148=)
c.105G=
n.566G=
n.306G=
c.*163G= (n.*163G=)
c.440G= (p.Arg147=)
3g.139350240G>TCA354761061MRPS22c.356G>T (p.Arg119Leu)
c.566G>T (p.Arg189Leu)
n.580G>T
c.185G>T (p.Arg62Leu)
c.*207G>T (n.*207G>T)
n.2434G>T
n.589G>T
c.563G>T (p.Arg188Leu)
c.581G>T (p.Arg194Leu)
c.659G>T
c.443G>T (p.Arg148Leu)
c.105G>T
n.566G>T
n.306G>T
c.*163G>T (n.*163G>T)
c.440G>T (p.Arg147Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.139350241G>ACA435882159MRPS22c.357G>A (p.Arg119=)
c.567G>A (p.Arg189=)
n.581G>A
c.186G>A (p.Arg62=)
c.*208G>A (n.*208G>A)
n.2435G>A
n.590G>A
c.564G>A (p.Arg188=)
c.582G>A (p.Arg194=)
c.660G>A
c.444G>A (p.Arg148=)
c.106G>A
n.567G>A
n.307G>A
c.*164G>A (n.*164G>A)
c.441G>A (p.Arg147=)
3g.139350241G>CCA435882161MRPS22c.357G>C (p.Arg119=)
c.567G>C (p.Arg189=)
n.581G>C
c.186G>C (p.Arg62=)
c.*208G>C (n.*208G>C)
n.2435G>C
n.590G>C
c.564G>C (p.Arg188=)
c.582G>C (p.Arg194=)
c.660G>C
c.444G>C (p.Arg148=)
c.106G>C
n.567G>C
n.307G>C
c.*164G>C (n.*164G>C)
c.441G>C (p.Arg147=)
3g.139350241G>TCA435882166MRPS22c.357G>T (p.Arg119=)
c.567G>T (p.Arg189=)
n.581G>T
c.186G>T (p.Arg62=)
c.*208G>T (n.*208G>T)
n.2435G>T
n.590G>T
c.564G>T (p.Arg188=)
c.582G>T (p.Arg194=)
c.660G>T
c.444G>T (p.Arg148=)
c.106G>T
n.567G>T
n.307G>T
c.*164G>T (n.*164G>T)
c.441G>T (p.Arg147=)
3g.139350242G>ACA354761066MRPS22c.358G>A (p.Asp120Asn)
c.568G>A (p.Asp190Asn)
n.582G>A
c.187G>A (p.Asp63Asn)
c.*209G>A (n.*209G>A)
n.2436G>A
n.591G>A
c.565G>A (p.Asp189Asn)
c.583G>A (p.Asp195Asn)
c.661G>A
c.445G>A (p.Asp149Asn)
c.107G>A
n.568G>A
n.308G>A
c.*165G>A (n.*165G>A)
c.442G>A (p.Asp148Asn)
3g.139350242G>CCA354761064MRPS22c.358G>C (p.Asp120His)
c.568G>C (p.Asp190His)
n.582G>C
c.187G>C (p.Asp63His)
c.*209G>C (n.*209G>C)
n.2436G>C
n.591G>C
c.565G>C (p.Asp189His)
c.583G>C (p.Asp195His)
c.661G>C
c.445G>C (p.Asp149His)
c.107G>C
n.568G>C
n.308G>C
c.*165G>C (n.*165G>C)
c.442G>C (p.Asp148His)
3g.139350242G>TCA354761063MRPS22c.358G>T (p.Asp120Tyr)
c.568G>T (p.Asp190Tyr)
n.582G>T
c.187G>T (p.Asp63Tyr)
c.*209G>T (n.*209G>T)
n.2436G>T
n.591G>T
c.565G>T (p.Asp189Tyr)
c.583G>T (p.Asp195Tyr)
c.661G>T
c.445G>T (p.Asp149Tyr)
c.107G>T
n.568G>T
n.308G>T
c.*165G>T (n.*165G>T)
c.442G>T (p.Asp148Tyr)
3g.139350243A>CCA354761067MRPS22c.359A>C (p.Asp120Ala)
c.569A>C (p.Asp190Ala)
n.583A>C
c.188A>C (p.Asp63Ala)
c.*210A>C (n.*210A>C)
n.2437A>C
n.592A>C
c.566A>C (p.Asp189Ala)
c.584A>C (p.Asp195Ala)
c.662A>C
c.446A>C (p.Asp149Ala)
c.108A>C
n.569A>C
n.309A>C
c.*166A>C (n.*166A>C)
c.443A>C (p.Asp148Ala)
3g.139350243A>GCA354761069MRPS22c.359A>G (p.Asp120Gly)
c.569A>G (p.Asp190Gly)
n.583A>G
c.188A>G (p.Asp63Gly)
c.*210A>G (n.*210A>G)
n.2437A>G
n.592A>G
c.566A>G (p.Asp189Gly)
c.584A>G (p.Asp195Gly)
c.662A>G
c.446A>G (p.Asp149Gly)
c.108A>G
n.569A>G
n.309A>G
c.*166A>G (n.*166A>G)
c.443A>G (p.Asp148Gly)
3g.139350243A>TCA354761068MRPS22c.359A>T (p.Asp120Val)
c.569A>T (p.Asp190Val)
n.583A>T
c.188A>T (p.Asp63Val)
c.*210A>T (n.*210A>T)
n.2437A>T
n.592A>T
c.566A>T (p.Asp189Val)
c.584A>T (p.Asp195Val)
c.662A>T
c.446A>T (p.Asp149Val)
c.108A>T
n.569A>T
n.309A>T
c.*166A>T (n.*166A>T)
c.443A>T (p.Asp148Val)
3g.139350244C>ACA354761071MRPS22c.360C>A (p.Asp120Glu)
c.570C>A (p.Asp190Glu)
n.584C>A
c.189C>A (p.Asp63Glu)
c.*211C>A (n.*211C>A)
n.2438C>A
n.593C>A
c.567C>A (p.Asp189Glu)
c.585C>A (p.Asp195Glu)
c.663C>A
c.447C>A (p.Asp149Glu)
c.109C>A
n.570C>A
n.310C>A
c.*167C>A (n.*167C>A)
c.444C>A (p.Asp148Glu)
3g.139350244C>GCA354761073MRPS22c.360C>G (p.Asp120Glu)
c.570C>G (p.Asp190Glu)
n.584C>G
c.189C>G (p.Asp63Glu)
c.*211C>G (n.*211C>G)
n.2438C>G
n.593C>G
c.567C>G (p.Asp189Glu)
c.585C>G (p.Asp195Glu)
c.663C>G
c.447C>G (p.Asp149Glu)
c.109C>G
n.570C>G
n.310C>G
c.*167C>G (n.*167C>G)
c.444C>G (p.Asp148Glu)
3g.139350244C>TCA435882186MRPS22c.360C>T (p.Asp120=)
c.570C>T (p.Asp190=)
n.584C>T
c.189C>T (p.Asp63=)
c.*211C>T (n.*211C>T)
n.2438C>T
n.593C>T
c.567C>T (p.Asp189=)
c.585C>T (p.Asp195=)
c.663C>T
c.447C>T (p.Asp149=)
c.109C>T
n.570C>T
n.310C>T
c.*167C>T (n.*167C>T)
c.444C>T (p.Asp148=)
3g.139350245C>ACA435882190MRPS22c.361C>A (p.Arg121=)
c.571C>A (p.Arg191=)
n.585C>A
c.190C>A (p.Arg64=)
c.*212C>A (n.*212C>A)
n.2439C>A
n.594C>A
c.568C>A (p.Arg190=)
c.586C>A (p.Arg196=)
c.664C>A
c.448C>A (p.Arg150=)
c.110C>A
n.571C>A
n.311C>A
c.*168C>A (n.*168C>A)
c.445C>A (p.Arg149=)
3g.139350245C=CA1405584409MRPS22c.361C= (p.Arg121=)
c.571C= (p.Arg191=)
n.585C=
c.190C= (p.Arg64=)
c.*212C= (n.*212C=)
n.2439C=
n.594C=
c.568C= (p.Arg190=)
c.586C= (p.Arg196=)
c.664C=
c.448C= (p.Arg150=)
c.110C=
n.571C=
n.311C=
c.*168C= (n.*168C=)
c.445C= (p.Arg149=)
3g.139350245C>GCA354761075MRPS22c.361C>G (p.Arg121Gly)
c.571C>G (p.Arg191Gly)
n.585C>G
c.190C>G (p.Arg64Gly)
c.*212C>G (n.*212C>G)
n.2439C>G
n.594C>G
c.568C>G (p.Arg190Gly)
c.586C>G (p.Arg196Gly)
c.664C>G
c.448C>G (p.Arg150Gly)
c.110C>G
n.571C>G
n.311C>G
c.*168C>G (n.*168C>G)
c.445C>G (p.Arg149Gly)
3g.139350245C>TCA2640755MRPS22c.361C>T (p.Arg121Ter)
c.571C>T (p.Arg191Ter)
n.585C>T
c.190C>T (p.Arg64Ter)
c.*212C>T (n.*212C>T)
n.2439C>T
n.594C>T
c.568C>T (p.Arg190Ter)
c.586C>T (p.Arg196Ter)
c.664C>T
c.448C>T (p.Arg150Ter)
c.110C>T
n.571C>T
n.311C>T
c.*168C>T (n.*168C>T)
c.445C>T (p.Arg149Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.139350246G>ACA2640756MRPS22c.362G>A (p.Arg121Gln)
c.572G>A (p.Arg191Gln)
n.586G>A
c.191G>A (p.Arg64Gln)
c.*213G>A (n.*213G>A)
n.2440G>A
n.595G>A
c.569G>A (p.Arg190Gln)
c.587G>A (p.Arg196Gln)
c.665G>A
c.449G>A (p.Arg150Gln)
c.111G>A
n.572G>A
n.312G>A
c.*169G>A (n.*169G>A)
c.446G>A (p.Arg149Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
3g.139350246G>CCA354761078MRPS22c.362G>C (p.Arg121Pro)
c.572G>C (p.Arg191Pro)
n.586G>C
c.191G>C (p.Arg64Pro)
c.*213G>C (n.*213G>C)
n.2440G>C
n.595G>C
c.569G>C (p.Arg190Pro)
c.587G>C (p.Arg196Pro)
c.665G>C
c.449G>C (p.Arg150Pro)
c.111G>C
n.572G>C
n.312G>C
c.*169G>C (n.*169G>C)
c.446G>C (p.Arg149Pro)
3g.139350246G=CA1405584410MRPS22c.362G= (p.Arg121=)
c.572G= (p.Arg191=)
n.586G=
c.191G= (p.Arg64=)
c.*213G= (n.*213G=)
n.2440G=
n.595G=
c.569G= (p.Arg190=)
c.587G= (p.Arg196=)
c.665G=
c.449G= (p.Arg150=)
c.111G=
n.572G=
n.312G=
c.*169G= (n.*169G=)
c.446G= (p.Arg149=)
3g.139350246G>TCA354761079MRPS22c.362G>T (p.Arg121Leu)
c.572G>T (p.Arg191Leu)
n.586G>T
c.191G>T (p.Arg64Leu)
c.*213G>T (n.*213G>T)
n.2440G>T
n.595G>T
c.569G>T (p.Arg190Leu)
c.587G>T (p.Arg196Leu)
c.665G>T
c.449G>T (p.Arg150Leu)
c.111G>T
n.572G>T
n.312G>T
c.*169G>T (n.*169G>T)
c.446G>T (p.Arg149Leu)
3g.139350247A>CCA435882208MRPS22c.363A>C (p.Arg121=)
c.573A>C (p.Arg191=)
n.587A>C
c.192A>C (p.Arg64=)
c.*214A>C (n.*214A>C)
n.2441A>C
n.596A>C
c.570A>C (p.Arg190=)
c.588A>C (p.Arg196=)
c.666A>C
c.450A>C (p.Arg150=)
c.112A>C
n.573A>C
n.313A>C
c.*170A>C (n.*170A>C)
c.447A>C (p.Arg149=)
3g.139350247A>GCA435882211MRPS22c.363A>G (p.Arg121=)
c.573A>G (p.Arg191=)
n.587A>G
c.192A>G (p.Arg64=)
c.*214A>G (n.*214A>G)
n.2441A>G
n.596A>G
c.570A>G (p.Arg190=)
c.588A>G (p.Arg196=)
c.666A>G
c.450A>G (p.Arg150=)
c.112A>G
n.573A>G
n.313A>G
c.*170A>G (n.*170A>G)
c.447A>G (p.Arg149=)
3g.139350247A>TCA435882213MRPS22c.363A>T (p.Arg121=)
c.573A>T (p.Arg191=)
n.587A>T
c.192A>T (p.Arg64=)
c.*214A>T (n.*214A>T)
n.2441A>T
n.596A>T
c.570A>T (p.Arg190=)
c.588A>T (p.Arg196=)
c.666A>T
c.450A>T (p.Arg150=)
c.112A>T
n.573A>T
n.313A>T
c.*170A>T (n.*170A>T)
c.447A>T (p.Arg149=)
3g.139350248A=CA1405584411MRPS22c.364A= (p.Met122=)
c.574A= (p.Met192=)
n.588A=
c.193A= (p.Met65=)
c.*215A= (n.*215A=)
n.2442A=
n.597A=
c.571A= (p.Met191=)
c.589A= (p.Met197=)
c.667A=
c.451A= (p.Met151=)
c.113A=
n.574A=
n.314A=
c.*171A= (n.*171A=)
c.448A= (p.Met150=)
3g.139350248A>CCA354761081MRPS22c.364A>C (p.Met122Leu)
c.574A>C (p.Met192Leu)
n.588A>C
c.193A>C (p.Met65Leu)
c.*215A>C (n.*215A>C)
n.2442A>C
n.597A>C
c.571A>C (p.Met191Leu)
c.589A>C (p.Met197Leu)
c.667A>C
c.451A>C (p.Met151Leu)
c.113A>C
n.574A>C
n.314A>C
c.*171A>C (n.*171A>C)
c.448A>C (p.Met150Leu)
3g.139350248A>GCA2640757MRPS22c.364A>G (p.Met122Val)
c.574A>G (p.Met192Val)
n.588A>G
c.193A>G (p.Met65Val)
c.*215A>G (n.*215A>G)
n.2442A>G
n.597A>G
c.571A>G (p.Met191Val)
c.589A>G (p.Met197Val)
c.667A>G
c.451A>G (p.Met151Val)
c.113A>G
n.574A>G
n.314A>G
c.*171A>G (n.*171A>G)
c.448A>G (p.Met150Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.139350248A>TCA354761082MRPS22c.364A>T (p.Met122Leu)
c.574A>T (p.Met192Leu)
n.588A>T
c.193A>T (p.Met65Leu)
c.*215A>T (n.*215A>T)
n.2442A>T
n.597A>T
c.571A>T (p.Met191Leu)
c.589A>T (p.Met197Leu)
c.667A>T
c.451A>T (p.Met151Leu)
c.113A>T
n.574A>T
n.314A>T
c.*171A>T (n.*171A>T)
c.448A>T (p.Met150Leu)
3g.139350249T>ACA354761084MRPS22c.365T>A (p.Met122Lys)
c.575T>A (p.Met192Lys)
n.589T>A
c.194T>A (p.Met65Lys)
c.*216T>A (n.*216T>A)
n.2443T>A
n.598T>A
c.572T>A (p.Met191Lys)
c.590T>A (p.Met197Lys)
c.668T>A
c.452T>A (p.Met151Lys)
c.114T>A
n.575T>A
n.315T>A
c.*172T>A (n.*172T>A)
c.449T>A (p.Met150Lys)
3g.139350249T>CCA354761086MRPS22c.365T>C (p.Met122Thr)
c.575T>C (p.Met192Thr)
n.589T>C
c.194T>C (p.Met65Thr)
c.*216T>C (n.*216T>C)
n.2443T>C
n.598T>C
c.572T>C (p.Met191Thr)
c.590T>C (p.Met197Thr)
c.668T>C
c.452T>C (p.Met151Thr)
c.114T>C
n.575T>C
n.315T>C
c.*172T>C (n.*172T>C)
c.449T>C (p.Met150Thr)
 dbSNP gnomAD v2
3g.139350249T>GCA354761088MRPS22c.365T>G (p.Met122Arg)
c.575T>G (p.Met192Arg)
n.589T>G
c.194T>G (p.Met65Arg)
c.*216T>G (n.*216T>G)
n.2443T>G
n.598T>G
c.572T>G (p.Met191Arg)
c.590T>G (p.Met197Arg)
c.668T>G
c.452T>G (p.Met151Arg)
c.114T>G
n.575T>G
n.315T>G
c.*172T>G (n.*172T>G)
c.449T>G (p.Met150Arg)
3g.139350249T=CA1405584412MRPS22c.365T= (p.Met122=)
c.575T= (p.Met192=)
n.589T=
c.194T= (p.Met65=)
c.*216T= (n.*216T=)
n.2443T=
n.598T=
c.572T= (p.Met191=)
c.590T= (p.Met197=)
c.668T=
c.452T= (p.Met151=)
c.114T=
n.575T=
n.315T=
c.*172T= (n.*172T=)
c.449T= (p.Met150=)
3g.139350250G>ACA354761089MRPS22c.366G>A (p.Met122Ile)
c.576G>A (p.Met192Ile)
n.590G>A
c.195G>A (p.Met65Ile)
c.*217G>A (n.*217G>A)
n.2444G>A
n.599G>A
c.573G>A (p.Met191Ile)
c.591G>A (p.Met197Ile)
c.669G>A
c.453G>A (p.Met151Ile)
c.115G>A
n.576G>A
n.316G>A
c.*173G>A (n.*173G>A)
c.450G>A (p.Met150Ile)
3g.139350250G>CCA354761090MRPS22c.366G>C (p.Met122Ile)
c.576G>C (p.Met192Ile)
n.590G>C
c.195G>C (p.Met65Ile)
c.*217G>C (n.*217G>C)
n.2444G>C
n.599G>C
c.573G>C (p.Met191Ile)
c.591G>C (p.Met197Ile)
c.669G>C
c.453G>C (p.Met151Ile)
c.115G>C
n.576G>C
n.316G>C
c.*173G>C (n.*173G>C)
c.450G>C (p.Met150Ile)
3g.139350250G>TCA354761091MRPS22c.366G>T (p.Met122Ile)
c.576G>T (p.Met192Ile)
n.590G>T
c.195G>T (p.Met65Ile)
c.*217G>T (n.*217G>T)
n.2444G>T
n.599G>T
c.573G>T (p.Met191Ile)
c.591G>T (p.Met197Ile)
c.669G>T
c.453G>T (p.Met151Ile)
c.115G>T
n.576G>T
n.316G>T
c.*173G>T (n.*173G>T)
c.450G>T (p.Met150Ile)
3g.139350251A>CCA354761094MRPS22c.367A>C (p.Ile123Leu)
c.577A>C (p.Ile193Leu)
n.591A>C
c.196A>C (p.Ile66Leu)
c.*218A>C (n.*218A>C)
n.2445A>C
n.600A>C
c.574A>C (p.Ile192Leu)
c.592A>C (p.Ile198Leu)
c.670A>C
c.454A>C (p.Ile152Leu)
c.116A>C
n.577A>C
n.317A>C
c.*174A>C (n.*174A>C)
c.451A>C (p.Ile151Leu)
3g.139350251A>GCA354761093MRPS22c.367A>G (p.Ile123Val)
c.577A>G (p.Ile193Val)
n.591A>G
c.196A>G (p.Ile66Val)
c.*218A>G (n.*218A>G)
n.2445A>G
n.600A>G
c.574A>G (p.Ile192Val)
c.592A>G (p.Ile198Val)
c.670A>G
c.454A>G (p.Ile152Val)
c.116A>G
n.577A>G
n.317A>G
c.*174A>G (n.*174A>G)
c.451A>G (p.Ile151Val)
3g.139350251A>TCA354761092MRPS22c.367A>T (p.Ile123Leu)
c.577A>T (p.Ile193Leu)
n.591A>T
c.196A>T (p.Ile66Leu)
c.*218A>T (n.*218A>T)
n.2445A>T
n.600A>T
c.574A>T (p.Ile192Leu)
c.592A>T (p.Ile198Leu)
c.670A>T
c.454A>T (p.Ile152Leu)
c.116A>T
n.577A>T
n.317A>T
c.*174A>T (n.*174A>T)
c.451A>T (p.Ile151Leu)
 gnomAD v4
3g.139350252T>ACA354761095MRPS22c.368T>A (p.Ile123Lys)
c.578T>A (p.Ile193Lys)
n.592T>A
c.197T>A (p.Ile66Lys)
c.*219T>A (n.*219T>A)
n.2446T>A
n.601T>A
c.575T>A (p.Ile192Lys)
c.593T>A (p.Ile198Lys)
c.671T>A
c.455T>A (p.Ile152Lys)
c.117T>A
n.578T>A
n.318T>A
c.*175T>A (n.*175T>A)
c.452T>A (p.Ile151Lys)
3g.139350252T>CCA354761096MRPS22c.368T>C (p.Ile123Thr)
c.578T>C (p.Ile193Thr)
n.592T>C
c.197T>C (p.Ile66Thr)
c.*219T>C (n.*219T>C)
n.2446T>C
n.601T>C
c.575T>C (p.Ile192Thr)
c.593T>C (p.Ile198Thr)
c.671T>C
c.455T>C (p.Ile152Thr)
c.117T>C
n.578T>C
n.318T>C
c.*175T>C (n.*175T>C)
c.452T>C (p.Ile151Thr)
3g.139350252T>GCA354761097MRPS22c.368T>G (p.Ile123Arg)
c.578T>G (p.Ile193Arg)
n.592T>G
c.197T>G (p.Ile66Arg)
c.*219T>G (n.*219T>G)
n.2446T>G
n.601T>G
c.575T>G (p.Ile192Arg)
c.593T>G (p.Ile198Arg)
c.671T>G
c.455T>G (p.Ile152Arg)
c.117T>G
n.578T>G
n.318T>G
c.*175T>G (n.*175T>G)
c.452T>G (p.Ile151Arg)
3g.139350253A=CA1405584413MRPS22c.369A= (p.Ile123=)
c.579A= (p.Ile193=)
n.593A=
c.198A= (p.Ile66=)
c.*220A= (n.*220A=)
n.2447A=
n.602A=
c.576A= (p.Ile192=)
c.594A= (p.Ile198=)
c.672A=
c.456A= (p.Ile152=)
c.118A=
n.579A=
n.319A=
c.*176A= (n.*176A=)
c.453A= (p.Ile151=)
3g.139350253A>CCA435882254MRPS22c.369A>C (p.Ile123=)
c.579A>C (p.Ile193=)
n.593A>C
c.198A>C (p.Ile66=)
c.*220A>C (n.*220A>C)
n.2447A>C
n.602A>C
c.576A>C (p.Ile192=)
c.594A>C (p.Ile198=)
c.672A>C
c.456A>C (p.Ile152=)
c.118A>C
n.579A>C
n.319A>C
c.*176A>C (n.*176A>C)
c.453A>C (p.Ile151=)
3g.139350253A>GCA2640758MRPS22c.369A>G (p.Ile123Met)
c.579A>G (p.Ile193Met)
n.593A>G
c.198A>G (p.Ile66Met)
c.*220A>G (n.*220A>G)
n.2447A>G
n.602A>G
c.576A>G (p.Ile192Met)
c.594A>G (p.Ile198Met)
c.672A>G
c.456A>G (p.Ile152Met)
c.118A>G
n.579A>G
n.319A>G
c.*176A>G (n.*176A>G)
c.453A>G (p.Ile151Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.139350253A>TCA2640759MRPS22c.369A>T (p.Ile123=)
c.579A>T (p.Ile193=)
n.593A>T
c.198A>T (p.Ile66=)
c.*220A>T (n.*220A>T)
n.2447A>T
n.602A>T
c.576A>T (p.Ile192=)
c.594A>T (p.Ile198=)
c.672A>T
c.456A>T (p.Ile152=)
c.118A>T
n.579A>T
n.319A>T
c.*176A>T (n.*176A>T)
c.453A>T (p.Ile151=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.139350254C>ACA354761098MRPS22c.370C>A (p.Gln124Lys)
c.580C>A (p.Gln194Lys)
n.594C>A
c.199C>A (p.Gln67Lys)
c.*221C>A (n.*221C>A)
n.2448C>A
n.603C>A
c.577C>A (p.Gln193Lys)
c.595C>A (p.Gln199Lys)
c.673C>A
c.457C>A (p.Gln153Lys)
c.119C>A
n.580C>A
n.320C>A
c.*177C>A (n.*177C>A)
c.454C>A (p.Gln152Lys)
3g.139350254C=CA1405584414MRPS22c.370C= (p.Gln124=)
c.580C= (p.Gln194=)
n.594C=
c.199C= (p.Gln67=)
c.*221C= (n.*221C=)
n.2448C=
n.603C=
c.577C= (p.Gln193=)
c.595C= (p.Gln199=)
c.673C=
c.457C= (p.Gln153=)
c.119C=
n.580C=
n.320C=
c.*177C= (n.*177C=)
c.454C= (p.Gln152=)
3g.139350254C>GCA2640760MRPS22c.370C>G (p.Gln124Glu)
c.580C>G (p.Gln194Glu)
n.594C>G
c.199C>G (p.Gln67Glu)
c.*221C>G (n.*221C>G)
n.2448C>G
n.603C>G
c.577C>G (p.Gln193Glu)
c.595C>G (p.Gln199Glu)
c.673C>G
c.457C>G (p.Gln153Glu)
c.119C>G
n.580C>G
n.320C>G
c.*177C>G (n.*177C>G)
c.454C>G (p.Gln152Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.139350254C>TCA354761099MRPS22c.370C>T (p.Gln124Ter)
c.580C>T (p.Gln194Ter)
n.594C>T
c.199C>T (p.Gln67Ter)
c.*221C>T (n.*221C>T)
n.2448C>T
n.603C>T
c.577C>T (p.Gln193Ter)
c.595C>T (p.Gln199Ter)
c.673C>T
c.457C>T (p.Gln153Ter)
c.119C>T
n.580C>T
n.320C>T
c.*177C>T (n.*177C>T)
c.454C>T (p.Gln152Ter)
3g.139350255A>CCA354761100MRPS22c.371A>C (p.Gln124Pro)
c.581A>C (p.Gln194Pro)
n.595A>C
c.200A>C (p.Gln67Pro)
c.*222A>C (n.*222A>C)
n.2449A>C
n.604A>C
c.578A>C (p.Gln193Pro)
c.596A>C (p.Gln199Pro)
c.674A>C
c.458A>C (p.Gln153Pro)
c.120A>C
n.581A>C
n.321A>C
c.*178A>C (n.*178A>C)
c.455A>C (p.Gln152Pro)
3g.139350255A>GCA354761101MRPS22c.371A>G (p.Gln124Arg)
c.581A>G (p.Gln194Arg)
n.595A>G
c.200A>G (p.Gln67Arg)
c.*222A>G (n.*222A>G)
n.2449A>G
n.604A>G
c.578A>G (p.Gln193Arg)
c.596A>G (p.Gln199Arg)
c.674A>G
c.458A>G (p.Gln153Arg)
c.120A>G
n.581A>G
n.321A>G
c.*178A>G (n.*178A>G)
c.455A>G (p.Gln152Arg)
 gnomAD v4
3g.139350255A>TCA354761102MRPS22c.371A>T (p.Gln124Leu)
c.581A>T (p.Gln194Leu)
n.595A>T
c.200A>T (p.Gln67Leu)
c.*222A>T (n.*222A>T)
n.2449A>T
n.604A>T
c.578A>T (p.Gln193Leu)
c.596A>T (p.Gln199Leu)
c.674A>T
c.458A>T (p.Gln153Leu)
c.120A>T
n.581A>T
n.321A>T
c.*178A>T (n.*178A>T)
c.455A>T (p.Gln152Leu)
3g.139350256A=CA1405584415MRPS22c.372A= (p.Gln124=)
c.582A= (p.Gln194=)
n.596A=
c.201A= (p.Gln67=)
c.*223A= (n.*223A=)
n.2450A=
n.605A=
c.579A= (p.Gln193=)
c.597A= (p.Gln199=)
c.675A=
c.459A= (p.Gln153=)
c.121A=
n.582A=
n.322A=
c.*179A= (n.*179A=)
c.456A= (p.Gln152=)
3g.139350256A>CCA2640761MRPS22c.372A>C (p.Gln124His)
c.582A>C (p.Gln194His)
n.596A>C
c.201A>C (p.Gln67His)
c.*223A>C (n.*223A>C)
n.2450A>C
n.605A>C
c.579A>C (p.Gln193His)
c.597A>C (p.Gln199His)
c.675A>C
c.459A>C (p.Gln153His)
c.121A>C
n.582A>C
n.322A>C
c.*179A>C (n.*179A>C)
c.456A>C (p.Gln152His)
 dbSNP ExAC gnomAD v2
3g.139350256A>GCA435882274MRPS22c.372A>G (p.Gln124=)
c.582A>G (p.Gln194=)
n.596A>G
c.201A>G (p.Gln67=)
c.*223A>G (n.*223A>G)
n.2450A>G
n.605A>G
c.579A>G (p.Gln193=)
c.597A>G (p.Gln199=)
c.675A>G
c.459A>G (p.Gln153=)
c.121A>G
n.582A>G
n.322A>G
c.*179A>G (n.*179A>G)
c.456A>G (p.Gln152=)
3g.139350256A>TCA354761103MRPS22c.372A>T (p.Gln124His)
c.582A>T (p.Gln194His)
n.596A>T
c.201A>T (p.Gln67His)
c.*223A>T (n.*223A>T)
n.2450A>T
n.605A>T
c.579A>T (p.Gln193His)
c.597A>T (p.Gln199His)
c.675A>T
c.459A>T (p.Gln153His)
c.121A>T
n.582A>T
n.322A>T
c.*179A>T (n.*179A>T)
c.456A>T (p.Gln152His)
 COSMIC
3g.139350257G>ACA354761105MRPS22c.373G>A (p.Val125Ile)
c.583G>A (p.Val195Ile)
n.597G>A
c.202G>A (p.Val68Ile)
c.*224G>A (n.*224G>A)
n.2451G>A
n.606G>A
c.580G>A (p.Val194Ile)
c.598G>A (p.Val200Ile)
c.676G>A
c.460G>A (p.Val154Ile)
c.122G>A
n.583G>A
n.323G>A
c.*180G>A (n.*180G>A)
c.457G>A (p.Val153Ile)
 dbSNP gnomAD v3 gnomAD v4
3g.139350257G>CCA354761106MRPS22c.373G>C (p.Val125Leu)
c.583G>C (p.Val195Leu)
n.597G>C
c.202G>C (p.Val68Leu)
c.*224G>C (n.*224G>C)
n.2451G>C
n.606G>C
c.580G>C (p.Val194Leu)
c.598G>C (p.Val200Leu)
c.676G>C
c.460G>C (p.Val154Leu)
c.122G>C
n.583G>C
n.323G>C
c.*180G>C (n.*180G>C)
c.457G>C (p.Val153Leu)
 dbSNP gnomAD v3 gnomAD v4
3g.139350257G=CA1405584416MRPS22c.373G= (p.Val125=)
c.583G= (p.Val195=)
n.597G=
c.202G= (p.Val68=)
c.*224G= (n.*224G=)
n.2451G=
n.606G=
c.580G= (p.Val194=)
c.598G= (p.Val200=)
c.676G=
c.460G= (p.Val154=)
c.122G=
n.583G=
n.323G=
c.*180G= (n.*180G=)
c.457G= (p.Val153=)
3g.139350257G>TCA354761104MRPS22c.373G>T (p.Val125Phe)
c.583G>T (p.Val195Phe)
n.597G>T
c.202G>T (p.Val68Phe)
c.*224G>T (n.*224G>T)
n.2451G>T
n.606G>T
c.580G>T (p.Val194Phe)
c.598G>T (p.Val200Phe)
c.676G>T
c.460G>T (p.Val154Phe)
c.122G>T
n.583G>T
n.323G>T
c.*180G>T (n.*180G>T)
c.457G>T (p.Val153Phe)
3g.139350258T>ACA354761107MRPS22c.374T>A (p.Val125Asp)
c.584T>A (p.Val195Asp)
n.598T>A
c.203T>A (p.Val68Asp)
c.*225T>A (n.*225T>A)
n.2452T>A
n.607T>A
c.581T>A (p.Val194Asp)
c.599T>A (p.Val200Asp)
c.677T>A
c.461T>A (p.Val154Asp)
c.123T>A
n.584T>A
n.324T>A
c.*181T>A (n.*181T>A)
c.458T>A (p.Val153Asp)
3g.139350258T>CCA354761108MRPS22c.374T>C (p.Val125Ala)
c.584T>C (p.Val195Ala)
n.598T>C
c.203T>C (p.Val68Ala)
c.*225T>C (n.*225T>C)
n.2452T>C
n.607T>C
c.581T>C (p.Val194Ala)
c.599T>C (p.Val200Ala)
c.677T>C
c.461T>C (p.Val154Ala)
c.123T>C
n.584T>C
n.324T>C
c.*181T>C (n.*181T>C)
c.458T>C (p.Val153Ala)
3g.139350258T>GCA354761109MRPS22c.374T>G (p.Val125Gly)
c.584T>G (p.Val195Gly)
n.598T>G
c.203T>G (p.Val68Gly)
c.*225T>G (n.*225T>G)
n.2452T>G
n.607T>G
c.581T>G (p.Val194Gly)
c.599T>G (p.Val200Gly)
c.677T>G
c.461T>G (p.Val154Gly)
c.123T>G
n.584T>G
n.324T>G
c.*181T>G (n.*181T>G)
c.458T>G (p.Val153Gly)
3g.139350260delCA2667939482MRPS22c.376del (p.Tyr126IlefsTer10)
c.586del (p.Tyr196IlefsTer10)
n.600del
c.205del (p.Tyr69IlefsTer10)
c.376del (p.Tyr126IlefsTer?)
c.*227del (n.*227del)
n.2454del
n.609del
c.583del (p.Tyr195IlefsTer10)
c.679del
c.463del (p.Tyr155IlefsTer10)
c.125del
n.586del
n.326del
c.*183del (n.*183del)
c.460del (p.Tyr154IlefsTer10)
 gnomAD v4
3g.139350259T>ACA435882292MRPS22c.375T>A (p.Val125=)
c.585T>A (p.Val195=)
n.599T>A
c.204T>A (p.Val68=)
c.*226T>A (n.*226T>A)
n.2453T>A
n.608T>A
c.582T>A (p.Val194=)
c.600T>A (p.Val200=)
c.678T>A
c.462T>A (p.Val154=)
c.124T>A
n.585T>A
n.325T>A
c.*182T>A (n.*182T>A)
c.459T>A (p.Val153=)
3g.139350259T>CCA435882299MRPS22c.375T>C (p.Val125=)
c.585T>C (p.Val195=)
n.599T>C
c.204T>C (p.Val68=)
c.*226T>C (n.*226T>C)
n.2453T>C
n.608T>C
c.582T>C (p.Val194=)
c.600T>C (p.Val200=)
c.678T>C
c.462T>C (p.Val154=)
c.124T>C
n.585T>C
n.325T>C
c.*182T>C (n.*182T>C)
c.459T>C (p.Val153=)
3g.139350259T>GCA435882302MRPS22c.375T>G (p.Val125=)
c.585T>G (p.Val195=)
n.599T>G
c.204T>G (p.Val68=)
c.*226T>G (n.*226T>G)
n.2453T>G
n.608T>G
c.582T>G (p.Val194=)
c.600T>G (p.Val200=)
c.678T>G
c.462T>G (p.Val154=)
c.124T>G
n.585T>G
n.325T>G
c.*182T>G (n.*182T>G)
c.459T>G (p.Val153=)
3g.139350260T>ACA354761110MRPS22c.376T>A (p.Tyr126Asn)
c.586T>A (p.Tyr196Asn)
n.600T>A
c.205T>A (p.Tyr69Asn)
c.*227T>A (n.*227T>A)
n.2454T>A
n.609T>A
c.583T>A (p.Tyr195Asn)
c.679T>A
c.463T>A (p.Tyr155Asn)
c.125T>A
n.586T>A
n.326T>A
c.*183T>A (n.*183T>A)
c.460T>A (p.Tyr154Asn)
3g.139350260T>CCA2640762MRPS22c.376T>C (p.Tyr126His)
c.586T>C (p.Tyr196His)
n.600T>C
c.205T>C (p.Tyr69His)
c.*227T>C (n.*227T>C)
n.2454T>C
n.609T>C
c.583T>C (p.Tyr195His)
c.679T>C
c.463T>C (p.Tyr155His)
c.125T>C
n.586T>C
n.326T>C
c.*183T>C (n.*183T>C)
c.460T>C (p.Tyr154His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.139350260T>GCA354761111MRPS22c.376T>G (p.Tyr126Asp)
c.586T>G (p.Tyr196Asp)
n.600T>G
c.205T>G (p.Tyr69Asp)
c.*227T>G (n.*227T>G)
n.2454T>G
n.609T>G
c.583T>G (p.Tyr195Asp)
c.679T>G
c.463T>G (p.Tyr155Asp)
c.125T>G
n.586T>G
n.326T>G
c.*183T>G (n.*183T>G)
c.460T>G (p.Tyr154Asp)
3g.139350260T=CA1405584417MRPS22c.376T= (p.Tyr126=)
c.586T= (p.Tyr196=)
n.600T=
c.205T= (p.Tyr69=)
c.*227T= (n.*227T=)
n.2454T=
n.609T=
c.583T= (p.Tyr195=)
c.679T=
c.463T= (p.Tyr155=)
c.125T=
n.586T=
n.326T=
c.*183T= (n.*183T=)
c.460T= (p.Tyr154=)
3g.139350261A=CA1405584418MRPS22c.377A= (p.Tyr126=)
c.587A= (p.Tyr196=)
n.601A=
c.206A= (p.Tyr69=)
c.*228A= (n.*228A=)
n.2455A=
n.610A=
c.584A= (p.Tyr195=)
c.680A=
c.464A= (p.Tyr155=)
c.126A=
n.587A=
n.327A=
c.*184A= (n.*184A=)
c.461A= (p.Tyr154=)
3g.139350261A>CCA354761112MRPS22c.377A>C (p.Tyr126Ser)
c.587A>C (p.Tyr196Ser)
n.601A>C
c.206A>C (p.Tyr69Ser)
c.*228A>C (n.*228A>C)
n.2455A>C
n.610A>C
c.584A>C (p.Tyr195Ser)
c.680A>C
c.464A>C (p.Tyr155Ser)
c.126A>C
n.587A>C
n.327A>C
c.*184A>C (n.*184A>C)
c.461A>C (p.Tyr154Ser)
3g.139350261A>GCA354761113MRPS22c.377A>G (p.Tyr126Cys)
c.587A>G (p.Tyr196Cys)
n.601A>G
c.206A>G (p.Tyr69Cys)
c.*228A>G (n.*228A>G)
n.2455A>G
n.610A>G
c.584A>G (p.Tyr195Cys)
c.680A>G
c.464A>G (p.Tyr155Cys)
c.126A>G
n.587A>G
n.327A>G
c.*184A>G (n.*184A>G)
c.461A>G (p.Tyr154Cys)
 dbSNP
3g.139350261A>TCA354761114MRPS22c.377A>T (p.Tyr126Phe)
c.587A>T (p.Tyr196Phe)
n.601A>T
c.206A>T (p.Tyr69Phe)
c.*228A>T (n.*228A>T)
n.2455A>T
n.610A>T
c.584A>T (p.Tyr195Phe)
c.680A>T
c.464A>T (p.Tyr155Phe)
c.126A>T
n.587A>T
n.327A>T
c.*184A>T (n.*184A>T)
c.461A>T (p.Tyr154Phe)
3g.139350262T>ACA354761115MRPS22c.378T>A (p.Tyr126Ter)
c.588T>A (p.Tyr196Ter)
n.602T>A
c.207T>A (p.Tyr69Ter)
c.*229T>A (n.*229T>A)
n.2456T>A
n.611T>A
c.585T>A (p.Tyr195Ter)
c.681T>A
c.465T>A (p.Tyr155Ter)
c.127T>A
n.588T>A
n.328T>A
c.*185T>A (n.*185T>A)
c.462T>A (p.Tyr154Ter)
3g.139350262T>CCA435882323MRPS22c.378T>C (p.Tyr126=)
c.588T>C (p.Tyr196=)
n.602T>C
c.207T>C (p.Tyr69=)
c.*229T>C (n.*229T>C)
n.2456T>C
n.611T>C
c.585T>C (p.Tyr195=)
c.681T>C
c.465T>C (p.Tyr155=)
c.127T>C
n.588T>C
n.328T>C
c.*185T>C (n.*185T>C)
c.462T>C (p.Tyr154=)
3g.139350262T>GCA354761116MRPS22c.378T>G (p.Tyr126Ter)
c.588T>G (p.Tyr196Ter)
n.602T>G
c.207T>G (p.Tyr69Ter)
c.*229T>G (n.*229T>G)
n.2456T>G
n.611T>G
c.585T>G (p.Tyr195Ter)
c.681T>G
c.465T>G (p.Tyr155Ter)
c.127T>G
n.588T>G
n.328T>G
c.*185T>G (n.*185T>G)
c.462T>G (p.Tyr154Ter)
3g.139350263T>ACA354761119MRPS22c.379T>A (p.Phe127Ile)
c.589T>A (p.Phe197Ile)
n.603T>A
c.208T>A (p.Phe70Ile)
c.*230T>A (n.*230T>A)
n.2457T>A
n.612T>A
c.586T>A (p.Phe196Ile)
c.682T>A
c.466T>A (p.Phe156Ile)
c.128T>A
n.589T>A
n.329T>A
c.*186T>A (n.*186T>A)
c.463T>A (p.Phe155Ile)
3g.139350263T>CCA354761118MRPS22c.379T>C (p.Phe127Leu)
c.589T>C (p.Phe197Leu)
n.603T>C
c.208T>C (p.Phe70Leu)
c.*230T>C (n.*230T>C)
n.2457T>C
n.612T>C
c.586T>C (p.Phe196Leu)
c.682T>C
c.466T>C (p.Phe156Leu)
c.128T>C
n.589T>C
n.329T>C
c.*186T>C (n.*186T>C)
c.463T>C (p.Phe155Leu)
 gnomAD v4
3g.139350263T>GCA354761117MRPS22c.379T>G (p.Phe127Val)
c.589T>G (p.Phe197Val)
n.603T>G
c.208T>G (p.Phe70Val)
c.*230T>G (n.*230T>G)
n.2457T>G
n.612T>G
c.586T>G (p.Phe196Val)
c.682T>G
c.466T>G (p.Phe156Val)
c.128T>G
n.589T>G
n.329T>G
c.*186T>G (n.*186T>G)
c.463T>G (p.Phe155Val)
3g.139350264T>ACA354761120MRPS22c.380T>A (p.Phe127Tyr)
c.590T>A (p.Phe197Tyr)
n.604T>A
c.209T>A (p.Phe70Tyr)
c.*231T>A (n.*231T>A)
n.2458T>A
n.613T>A
c.587T>A (p.Phe196Tyr)
c.683T>A
c.467T>A (p.Phe156Tyr)
c.129T>A
n.590T>A
n.330T>A
c.*187T>A (n.*187T>A)
c.464T>A (p.Phe155Tyr)
3g.139350264T>CCA354761121MRPS22c.380T>C (p.Phe127Ser)
c.590T>C (p.Phe197Ser)
n.604T>C
c.209T>C (p.Phe70Ser)
c.*231T>C (n.*231T>C)
n.2458T>C
n.613T>C
c.587T>C (p.Phe196Ser)
c.683T>C
c.467T>C (p.Phe156Ser)
c.129T>C
n.590T>C
n.330T>C
c.*187T>C (n.*187T>C)
c.464T>C (p.Phe155Ser)
3g.139350264T>GCA354761122MRPS22c.380T>G (p.Phe127Cys)
c.590T>G (p.Phe197Cys)
n.604T>G
c.209T>G (p.Phe70Cys)
c.*231T>G (n.*231T>G)
n.2458T>G
n.613T>G
c.587T>G (p.Phe196Cys)
c.683T>G
c.467T>G (p.Phe156Cys)
c.129T>G
n.590T>G
n.330T>G
c.*187T>G (n.*187T>G)
c.464T>G (p.Phe155Cys)
3g.139350265C>ACA354761123MRPS22c.381C>A (p.Phe127Leu)
c.591C>A (p.Phe197Leu)
n.605C>A
c.210C>A (p.Phe70Leu)
c.*232C>A (n.*232C>A)
n.2459C>A
n.614C>A
c.588C>A (p.Phe196Leu)
c.684C>A
c.468C>A (p.Phe156Leu)
c.130C>A
n.591C>A
n.331C>A
c.*188C>A (n.*188C>A)
c.465C>A (p.Phe155Leu)
3g.139350265C>GCA354761124MRPS22c.381C>G (p.Phe127Leu)
c.591C>G (p.Phe197Leu)
n.605C>G
c.210C>G (p.Phe70Leu)
c.*232C>G (n.*232C>G)
n.2459C>G
n.614C>G
c.588C>G (p.Phe196Leu)
c.684C>G
c.468C>G (p.Phe156Leu)
c.130C>G
n.591C>G
n.331C>G
c.*188C>G (n.*188C>G)
c.465C>G (p.Phe155Leu)
3g.139350265C>TCA435882333MRPS22c.381C>T (p.Phe127=)
c.591C>T (p.Phe197=)
n.605C>T
c.210C>T (p.Phe70=)
c.*232C>T (n.*232C>T)
n.2459C>T
n.614C>T
c.588C>T (p.Phe196=)
c.684C>T
c.468C>T (p.Phe156=)
c.130C>T
n.591C>T
n.331C>T
c.*188C>T (n.*188C>T)
c.465C>T (p.Phe155=)
 dbSNP
3g.139350267delCA2577918667MRPS22c.383del (p.Pro128GlnfsTer8)
c.593del (p.Pro198GlnfsTer8)
n.607del
c.212del (p.Pro71GlnfsTer8)
c.383del (p.Pro128GlnfsTer?)
c.*234del (n.*234del)
n.2461del
n.616del
c.590del (p.Pro197GlnfsTer8)
c.686del
c.470del (p.Pro157GlnfsTer8)
c.132del
n.593del
n.333del
c.*190del (n.*190del)
c.467del (p.Pro156GlnfsTer8)
3g.139350266_139350267delCA2667939490MRPS22c.382_383del (p.Pro128LysfsTer5)
c.592_593del (p.Pro198LysfsTer5)
n.606_607del
c.211_212del (p.Pro71LysfsTer5)
c.382_383del (p.Pro128LysfsTer?)
c.*233_*234del (n.*233_*234del)
n.2460_2461del
n.615_616del
c.589_590del (p.Pro197LysfsTer5)
c.685_686del
c.469_470del (p.Pro157LysfsTer5)
c.131_132del
n.592_593del
n.332_333del
c.*189_*190del (n.*189_*190del)
c.466_467del (p.Pro156LysfsTer5)
 gnomAD v4
3g.139350266C>ACA354761125MRPS22c.382C>A (p.Pro128Thr)
c.592C>A (p.Pro198Thr)
n.606C>A
c.211C>A (p.Pro71Thr)
c.*233C>A (n.*233C>A)
n.2460C>A
n.615C>A
c.589C>A (p.Pro197Thr)
c.685C>A
c.469C>A (p.Pro157Thr)
c.131C>A
n.592C>A
n.332C>A
c.*189C>A (n.*189C>A)
c.466C>A (p.Pro156Thr)
3g.139350266C=CA1405584419MRPS22c.382C= (p.Pro128=)
c.592C= (p.Pro198=)
n.606C=
c.211C= (p.Pro71=)
c.*233C= (n.*233C=)
n.2460C=
n.615C=
c.589C= (p.Pro197=)
c.685C=
c.469C= (p.Pro157=)
c.131C=
n.592C=
n.332C=
c.*189C= (n.*189C=)
c.466C= (p.Pro156=)
3g.139350266C>GCA354761126MRPS22c.382C>G (p.Pro128Ala)
c.592C>G (p.Pro198Ala)
n.606C>G
c.211C>G (p.Pro71Ala)
c.*233C>G (n.*233C>G)
n.2460C>G
n.615C>G
c.589C>G (p.Pro197Ala)
c.685C>G
c.469C>G (p.Pro157Ala)
c.131C>G
n.592C>G
n.332C>G
c.*189C>G (n.*189C>G)
c.466C>G (p.Pro156Ala)
3g.139350266C>TCA2640763MRPS22c.382C>T (p.Pro128Ser)
c.592C>T (p.Pro198Ser)
n.606C>T
c.211C>T (p.Pro71Ser)
c.*233C>T (n.*233C>T)
n.2460C>T
n.615C>T
c.589C>T (p.Pro197Ser)
c.685C>T
c.469C>T (p.Pro157Ser)
c.131C>T
n.592C>T
n.332C>T
c.*189C>T (n.*189C>T)
c.466C>T (p.Pro156Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.139350267C>ACA354761127MRPS22c.383C>A (p.Pro128Gln)
c.593C>A (p.Pro198Gln)
n.607C>A
c.212C>A (p.Pro71Gln)
c.*234C>A (n.*234C>A)
n.2461C>A
n.616C>A
c.590C>A (p.Pro197Gln)
c.686C>A
c.470C>A (p.Pro157Gln)
c.132C>A
n.593C>A
n.333C>A
c.*190C>A (n.*190C>A)
c.467C>A (p.Pro156Gln)
3g.139350267C>GCA354761128MRPS22c.383C>G (p.Pro128Arg)
c.593C>G (p.Pro198Arg)
n.607C>G
c.212C>G (p.Pro71Arg)
c.*234C>G (n.*234C>G)
n.2461C>G
n.616C>G
c.590C>G (p.Pro197Arg)
c.686C>G
c.470C>G (p.Pro157Arg)
c.132C>G
n.593C>G
n.333C>G
c.*190C>G (n.*190C>G)
c.467C>G (p.Pro156Arg)
3g.139350267C>TCA354761129MRPS22c.383C>T (p.Pro128Leu)
c.593C>T (p.Pro198Leu)
n.607C>T
c.212C>T (p.Pro71Leu)
c.*234C>T (n.*234C>T)
n.2461C>T
n.616C>T
c.590C>T (p.Pro197Leu)
c.686C>T
c.470C>T (p.Pro157Leu)
c.132C>T
n.593C>T
n.333C>T
c.*190C>T (n.*190C>T)
c.467C>T (p.Pro156Leu)
 COSMIC
3g.139350268A=CA1405584420MRPS22c.384A= (p.Pro128=)
c.594A= (p.Pro198=)
n.608A=
c.213A= (p.Pro71=)
c.*235A= (n.*235A=)
n.2462A=
n.617A=
c.591A= (p.Pro197=)
c.687A=
c.471A= (p.Pro157=)
c.133A=
n.594A=
n.334A=
c.*191A= (n.*191A=)
c.468A= (p.Pro156=)
3g.139350268A>CCA2640764MRPS22c.384A>C (p.Pro128=)
c.594A>C (p.Pro198=)
n.608A>C
c.213A>C (p.Pro71=)
c.*235A>C (n.*235A>C)
n.2462A>C
n.617A>C
c.591A>C (p.Pro197=)
c.687A>C
c.471A>C (p.Pro157=)
c.133A>C
n.594A>C
n.334A>C
c.*191A>C (n.*191A>C)
c.468A>C (p.Pro156=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.139350268A>GCA83994499MRPS22c.384A>G (p.Pro128=)
c.594A>G (p.Pro198=)
n.608A>G
c.213A>G (p.Pro71=)
c.*235A>G (n.*235A>G)
n.2462A>G
n.617A>G
c.591A>G (p.Pro197=)
c.687A>G
c.471A>G (p.Pro157=)
c.133A>G
n.594A>G
n.334A>G
c.*191A>G (n.*191A>G)
c.468A>G (p.Pro156=)
 dbSNP gnomAD v3 gnomAD v4
3g.139350268A>TCA435882344MRPS22c.384A>T (p.Pro128=)
c.594A>T (p.Pro198=)
n.608A>T
c.213A>T (p.Pro71=)
c.*235A>T (n.*235A>T)
n.2462A>T
n.617A>T
c.591A>T (p.Pro197=)
c.687A>T
c.471A>T (p.Pro157=)
c.133A>T
n.594A>T
n.334A>T
c.*191A>T (n.*191A>T)
c.468A>T (p.Pro156=)
3g.139350269A=CA1405584421MRPS22c.385A= (p.Lys129=)
c.595A= (p.Lys199=)
n.609A=
c.214A= (p.Lys72=)
c.*236A= (n.*236A=)
n.2463A=
n.618A=
c.592A= (p.Lys198=)
c.688A=
c.472A= (p.Lys158=)
c.134A=
n.595A=
n.335A=
c.*192A= (n.*192A=)
c.469A= (p.Lys157=)
3g.139350269A>CCA354761131MRPS22c.385A>C (p.Lys129Gln)
c.595A>C (p.Lys199Gln)
n.609A>C
c.214A>C (p.Lys72Gln)
c.*236A>C (n.*236A>C)
n.2463A>C
n.618A>C
c.592A>C (p.Lys198Gln)
c.688A>C
c.472A>C (p.Lys158Gln)
c.134A>C
n.595A>C
n.335A>C
c.*192A>C (n.*192A>C)
c.469A>C (p.Lys157Gln)
3g.139350269A>GCA354761132MRPS22c.385A>G (p.Lys129Glu)
c.595A>G (p.Lys199Glu)
n.609A>G
c.214A>G (p.Lys72Glu)
c.*236A>G (n.*236A>G)
n.2463A>G
n.618A>G
c.592A>G (p.Lys198Glu)
c.688A>G
c.472A>G (p.Lys158Glu)
c.134A>G
n.595A>G
n.335A>G
c.*192A>G (n.*192A>G)
c.469A>G (p.Lys157Glu)
 dbSNP gnomAD v2 gnomAD v4
3g.139350269A>TCA354761130MRPS22c.385A>T (p.Lys129Ter)
c.595A>T (p.Lys199Ter)
n.609A>T
c.214A>T (p.Lys72Ter)
c.*236A>T (n.*236A>T)
n.2463A>T
n.618A>T
c.592A>T (p.Lys198Ter)
c.688A>T
c.472A>T (p.Lys158Ter)
c.134A>T
n.595A>T
n.335A>T
c.*192A>T (n.*192A>T)
c.469A>T (p.Lys157Ter)
3g.139350270A>CCA354761135MRPS22c.386A>C (p.Lys129Thr)
c.596A>C (p.Lys199Thr)
n.610A>C
c.215A>C (p.Lys72Thr)
c.*237A>C (n.*237A>C)
n.2464A>C
n.619A>C
c.593A>C (p.Lys198Thr)
c.689A>C
c.473A>C (p.Lys158Thr)
c.135A>C
n.596A>C
n.336A>C
c.*193A>C (n.*193A>C)
c.470A>C (p.Lys157Thr)
3g.139350270A>GCA354761133MRPS22c.386A>G (p.Lys129Arg)
c.596A>G (p.Lys199Arg)
n.610A>G
c.215A>G (p.Lys72Arg)
c.*237A>G (n.*237A>G)
n.2464A>G
n.619A>G
c.593A>G (p.Lys198Arg)
c.689A>G
c.473A>G (p.Lys158Arg)
c.135A>G
n.596A>G
n.336A>G
c.*193A>G (n.*193A>G)
c.470A>G (p.Lys157Arg)
3g.139350270A>TCA354761134MRPS22c.386A>T (p.Lys129Ile)
c.596A>T (p.Lys199Ile)
n.610A>T
c.215A>T (p.Lys72Ile)
c.*237A>T (n.*237A>T)
n.2464A>T
n.619A>T
c.593A>T (p.Lys198Ile)
c.689A>T
c.473A>T (p.Lys158Ile)
c.135A>T
n.596A>T
n.336A>T
c.*193A>T (n.*193A>T)
c.470A>T (p.Lys157Ile)
3g.139350271A>CCA354761136MRPS22c.387A>C (p.Lys129Asn)
c.597A>C (p.Lys199Asn)
n.611A>C
c.216A>C (p.Lys72Asn)
c.*238A>C (n.*238A>C)
n.2465A>C
n.620A>C
c.594A>C (p.Lys198Asn)
c.690A>C
c.474A>C (p.Lys158Asn)
c.136A>C
n.597A>C
n.337A>C
c.*194A>C (n.*194A>C)
c.471A>C (p.Lys157Asn)
3g.139350271A>GCA435882353MRPS22c.387A>G (p.Lys129=)
c.597A>G (p.Lys199=)
n.611A>G
c.216A>G (p.Lys72=)
c.*238A>G (n.*238A>G)
n.2465A>G
n.620A>G
c.594A>G (p.Lys198=)
c.690A>G
c.474A>G (p.Lys158=)
c.136A>G
n.597A>G
n.337A>G
c.*194A>G (n.*194A>G)
c.471A>G (p.Lys157=)
3g.139350271A>TCA354761137MRPS22c.387A>T (p.Lys129Asn)
c.597A>T (p.Lys199Asn)
n.611A>T
c.216A>T (p.Lys72Asn)
c.*238A>T (n.*238A>T)
n.2465A>T
n.620A>T
c.594A>T (p.Lys198Asn)
c.690A>T
c.474A>T (p.Lys158Asn)
c.136A>T
n.597A>T
n.337A>T
c.*194A>T (n.*194A>T)
c.471A>T (p.Lys157Asn)
3g.139350272G>ACA354761138MRPS22c.388G>A (p.Glu130Lys)
c.598G>A (p.Glu200Lys)
n.612G>A
c.217G>A (p.Glu73Lys)
c.*239G>A (n.*239G>A)
n.2466G>A
n.621G>A
c.595G>A (p.Glu199Lys)
c.691G>A
c.475G>A (p.Glu159Lys)
c.137G>A
n.598G>A
n.338G>A
c.*195G>A (n.*195G>A)
c.472G>A (p.Glu158Lys)
3g.139350272G>CCA354761139MRPS22c.388G>C (p.Glu130Gln)
c.598G>C (p.Glu200Gln)
n.612G>C
c.217G>C (p.Glu73Gln)
c.*239G>C (n.*239G>C)
n.2466G>C
n.621G>C
c.595G>C (p.Glu199Gln)
c.691G>C
c.475G>C (p.Glu159Gln)
c.137G>C
n.598G>C
n.338G>C
c.*195G>C (n.*195G>C)
c.472G>C (p.Glu158Gln)
3g.139350272G>TCA354761140MRPS22c.388G>T (p.Glu130Ter)
c.598G>T (p.Glu200Ter)
n.612G>T
c.217G>T (p.Glu73Ter)
c.*239G>T (n.*239G>T)
n.2466G>T
n.621G>T
c.595G>T (p.Glu199Ter)
c.691G>T
c.475G>T (p.Glu159Ter)
c.137G>T
n.598G>T
n.338G>T
c.*195G>T (n.*195G>T)
c.472G>T (p.Glu158Ter)
3g.139350273A>CCA354761141MRPS22c.389A>C (p.Glu130Ala)
c.599A>C (p.Glu200Ala)
n.613A>C
c.218A>C (p.Glu73Ala)
c.*240A>C (n.*240A>C)
n.2467A>C
n.622A>C
c.596A>C (p.Glu199Ala)
c.692A>C
c.476A>C (p.Glu159Ala)
c.138A>C
n.599A>C
n.339A>C
c.*196A>C (n.*196A>C)
c.473A>C (p.Glu158Ala)
3g.139350273A>GCA354761142MRPS22c.389A>G (p.Glu130Gly)
c.599A>G (p.Glu200Gly)
n.613A>G
c.218A>G (p.Glu73Gly)
c.*240A>G (n.*240A>G)
n.2467A>G
n.622A>G
c.596A>G (p.Glu199Gly)
c.692A>G
c.476A>G (p.Glu159Gly)
c.138A>G
n.599A>G
n.339A>G
c.*196A>G (n.*196A>G)
c.473A>G (p.Glu158Gly)
 gnomAD v4
3g.139350273A>TCA354761143MRPS22c.389A>T (p.Glu130Val)
c.599A>T (p.Glu200Val)
n.613A>T
c.218A>T (p.Glu73Val)
c.*240A>T (n.*240A>T)
n.2467A>T
n.622A>T
c.596A>T (p.Glu199Val)
c.692A>T
c.476A>T (p.Glu159Val)
c.138A>T
n.599A>T
n.339A>T
c.*196A>T (n.*196A>T)
c.473A>T (p.Glu158Val)
3g.139350274A=CA1405584422MRPS22c.390A= (p.Glu130=)
c.600A= (p.Glu200=)
n.614A=
c.219A= (p.Glu73=)
c.*241A= (n.*241A=)
n.2468A=
n.623A=
c.597A= (p.Glu199=)
c.693A=
c.477A= (p.Glu159=)
c.139A=
n.600A=
n.340A=
c.*197A= (n.*197A=)
c.474A= (p.Glu158=)
3g.139350274A>CCA354761144MRPS22c.390A>C (p.Glu130Asp)
c.600A>C (p.Glu200Asp)
n.614A>C
c.219A>C (p.Glu73Asp)
c.*241A>C (n.*241A>C)
n.2468A>C
n.623A>C
c.597A>C (p.Glu199Asp)
c.693A>C
c.477A>C (p.Glu159Asp)
c.139A>C
n.600A>C
n.340A>C
c.*197A>C (n.*197A>C)
c.474A>C (p.Glu158Asp)
 ClinVar dbSNP
3g.139350274A>GCA435882364MRPS22c.390A>G (p.Glu130=)
c.600A>G (p.Glu200=)
n.614A>G
c.219A>G (p.Glu73=)
c.*241A>G (n.*241A>G)
n.2468A>G
n.623A>G
c.597A>G (p.Glu199=)
c.693A>G
c.477A>G (p.Glu159=)
c.139A>G
n.600A>G
n.340A>G
c.*197A>G (n.*197A>G)
c.474A>G (p.Glu158=)
3g.139350274A>TCA354761145MRPS22c.390A>T (p.Glu130Asp)
c.600A>T (p.Glu200Asp)
n.614A>T
c.219A>T (p.Glu73Asp)
c.*241A>T (n.*241A>T)
n.2468A>T
n.623A>T
c.597A>T (p.Glu199Asp)
c.693A>T
c.477A>T (p.Glu159Asp)
c.139A>T
n.600A>T
n.340A>T
c.*197A>T (n.*197A>T)
c.474A>T (p.Glu158Asp)
3g.139350275G>ACA354761147MRPS22c.391G>A (p.Gly131Ser)
c.601G>A (p.Gly201Ser)
n.615G>A
c.220G>A (p.Gly74Ser)
c.391G>A (p.Asp131Asn)
c.*242G>A (n.*242G>A)
n.2469G>A
n.624G>A
c.598G>A (p.Gly200Ser)
c.694G>A
c.478G>A (p.Gly160Ser)
c.140G>A
n.601G>A
n.341G>A
c.*198G>A (n.*198G>A)
c.475G>A (p.Gly159Ser)
 dbSNP gnomAD v4
3g.139350275G>CCA354761148MRPS22c.391G>C (p.Gly131Arg)
c.601G>C (p.Gly201Arg)
n.615G>C
c.220G>C (p.Gly74Arg)
c.391G>C (p.Asp131His)
c.*242G>C (n.*242G>C)
n.2469G>C
n.624G>C
c.598G>C (p.Gly200Arg)
c.694G>C
c.478G>C (p.Gly160Arg)
c.140G>C
n.601G>C
n.341G>C
c.*198G>C (n.*198G>C)
c.475G>C (p.Gly159Arg)
3g.139350275G=CA1405584423MRPS22c.391G= (p.Gly131=)
c.601G= (p.Gly201=)
n.615G=
c.220G= (p.Gly74=)
c.391G= (p.Asp131=)
c.*242G= (n.*242G=)
n.2469G=
n.624G=
c.598G= (p.Gly200=)
c.694G=
c.478G= (p.Gly160=)
c.140G=
n.601G=
n.341G=
c.*198G= (n.*198G=)
c.475G= (p.Gly159=)
3g.139350275G>TCA354761146MRPS22c.391G>T (p.Gly131Cys)
c.601G>T (p.Gly201Cys)
n.615G>T
c.220G>T (p.Gly74Cys)
c.391G>T (p.Asp131Tyr)
c.*242G>T (n.*242G>T)
n.2469G>T
n.624G>T
c.598G>T (p.Gly200Cys)
c.694G>T
c.478G>T (p.Gly160Cys)
c.140G>T
n.601G>T
n.341G>T
c.*198G>T (n.*198G>T)
c.475G>T (p.Gly159Cys)
3g.139350276G>ACA354761149MRPS22c.392G>A (p.Gly131Asp)
c.602G>A (p.Gly201Asp)
n.616G>A
c.221G>A (p.Gly74Asp)
c.391+1G>A (n.391+1G>A)
c.*243G>A (n.*243G>A)
n.2470G>A
n.625G>A
c.599G>A (p.Gly200Asp)
c.695G>A
c.479G>A (p.Gly160Asp)
c.141G>A
n.602G>A
n.342G>A
c.*199G>A (n.*199G>A)
c.476G>A (p.Gly159Asp)
 dbSNP gnomAD v4
3g.139350276G>CCA354761150MRPS22c.392G>C (p.Gly131Ala)
c.602G>C (p.Gly201Ala)
n.616G>C
c.221G>C (p.Gly74Ala)
c.391+1G>C (n.391+1G>C)
c.*243G>C (n.*243G>C)
n.2470G>C
n.625G>C
c.599G>C (p.Gly200Ala)
c.695G>C
c.479G>C (p.Gly160Ala)
c.141G>C
n.602G>C
n.342G>C
c.*199G>C (n.*199G>C)
c.476G>C (p.Gly159Ala)
3g.139350276G=CA1405584424MRPS22c.392G= (p.Gly131=)
c.602G= (p.Gly201=)
n.616G=
c.221G= (p.Gly74=)
c.391+1G= (n.391+1G=)
c.*243G= (n.*243G=)
n.2470G=
n.625G=
c.599G= (p.Gly200=)
c.695G=
c.479G= (p.Gly160=)
c.141G=
n.602G=
n.342G=
c.*199G= (n.*199G=)
c.476G= (p.Gly159=)
3g.139350276G>TCA83994503MRPS22c.392G>T (p.Gly131Val)
c.602G>T (p.Gly201Val)
n.616G>T
c.221G>T (p.Gly74Val)
c.391+1G>T (n.391+1G>T)
c.*243G>T (n.*243G>T)
n.2470G>T
n.625G>T
c.599G>T (p.Gly200Val)
c.695G>T
c.479G>T (p.Gly160Val)
c.141G>T
n.602G>T
n.342G>T
c.*199G>T (n.*199G>T)
c.476G>T (p.Gly159Val)
 dbSNP
3g.139350277T>ACA435882374MRPS22c.393T>A (p.Gly131=)
c.603T>A (p.Gly201=)
n.617T>A
c.222T>A (p.Gly74=)
c.391+2T>A (n.391+2T>A)
c.*244T>A (n.*244T>A)
n.2471T>A
n.626T>A
c.600T>A (p.Gly200=)
c.696T>A
c.480T>A (p.Gly160=)
c.142T>A
n.603T>A
n.343T>A
c.*200T>A (n.*200T>A)
c.477T>A (p.Gly159=)
3g.139350277T>CCA435882376MRPS22c.393T>C (p.Gly131=)
c.603T>C (p.Gly201=)
n.617T>C
c.222T>C (p.Gly74=)
c.391+2T>C (n.391+2T>C)
c.*244T>C (n.*244T>C)
n.2471T>C
n.626T>C
c.600T>C (p.Gly200=)
c.696T>C
c.480T>C (p.Gly160=)
c.142T>C
n.603T>C
n.343T>C
c.*200T>C (n.*200T>C)
c.477T>C (p.Gly159=)
3g.139350277T>GCA2640765MRPS22c.393T>G (p.Gly131=)
c.603T>G (p.Gly201=)
n.617T>G
c.222T>G (p.Gly74=)
c.391+2T>G (n.391+2T>G)
c.*244T>G (n.*244T>G)
n.2471T>G
n.626T>G
c.600T>G (p.Gly200=)
c.696T>G
c.480T>G (p.Gly160=)
c.142T>G
n.603T>G
n.343T>G
c.*200T>G (n.*200T>G)
c.477T>G (p.Gly159=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.139350277T=CA1405584425MRPS22c.393T= (p.Gly131=)
c.603T= (p.Gly201=)
n.617T=
c.222T= (p.Gly74=)
c.391+2T= (n.391+2T=)
c.*244T= (n.*244T=)
n.2471T=
n.626T=
c.600T= (p.Gly200=)
c.696T=
c.480T= (p.Gly160=)
c.142T=
n.603T=
n.343T=
c.*200T= (n.*200T=)
c.477T= (p.Gly159=)
3g.139350278C>ACA354761152MRPS22c.394C>A (p.Arg132Ser)
c.604C>A (p.Arg202Ser)
n.618C>A
c.223C>A (p.Arg75Ser)
c.391+3C>A (n.391+3C>A)
c.*245C>A (n.*245C>A)
n.2472C>A
n.627C>A
c.601C>A (p.Arg201Ser)
c.697C>A
c.481C>A (p.Arg161Ser)
c.143C>A
n.604C>A
n.344C>A
c.*201C>A (n.*201C>A)
c.478C>A (p.Arg160Ser)
3g.139350278C=CA1405584426MRPS22c.394C= (p.Arg132=)
c.604C= (p.Arg202=)
n.618C=
c.223C= (p.Arg75=)
c.391+3C= (n.391+3C=)
c.*245C= (n.*245C=)
n.2472C=
n.627C=
c.601C= (p.Arg201=)
c.697C=
c.481C= (p.Arg161=)
c.143C=
n.604C=
n.344C=
c.*201C= (n.*201C=)
c.478C= (p.Arg160=)
3g.139350278C>GCA354761151MRPS22c.394C>G (p.Arg132Gly)
c.604C>G (p.Arg202Gly)
n.618C>G
c.223C>G (p.Arg75Gly)
c.391+3C>G (n.391+3C>G)
c.*245C>G (n.*245C>G)
n.2472C>G
n.627C>G
c.601C>G (p.Arg201Gly)
c.697C>G
c.481C>G (p.Arg161Gly)
c.143C>G
n.604C>G
n.344C>G
c.*201C>G (n.*201C>G)
c.478C>G (p.Arg160Gly)
3g.139350278C>TCA83994505MRPS22c.394C>T (p.Arg132Cys)
c.604C>T (p.Arg202Cys)
n.618C>T
c.223C>T (p.Arg75Cys)
c.391+3C>T (n.391+3C>T)
c.*245C>T (n.*245C>T)
n.2472C>T
n.627C>T
c.601C>T (p.Arg201Cys)
c.697C>T
c.481C>T (p.Arg161Cys)
c.143C>T
n.604C>T
n.344C>T
c.*201C>T (n.*201C>T)
c.478C>T (p.Arg160Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.139350279G>ACA2640766MRPS22c.395G>A (p.Arg132His)
c.605G>A (p.Arg202His)
n.619G>A
c.224G>A (p.Arg75His)
c.391+4G>A (n.391+4G>A)
c.*246G>A (n.*246G>A)
n.2473G>A
n.628G>A
c.602G>A (p.Arg201His)
c.698G>A
c.482G>A (p.Arg161His)
c.144G>A
n.605G>A
n.345G>A
c.*202G>A (n.*202G>A)
c.479G>A (p.Arg160His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.139350279G>CCA354761153MRPS22c.395G>C (p.Arg132Pro)
c.605G>C (p.Arg202Pro)
n.619G>C
c.224G>C (p.Arg75Pro)
c.391+4G>C (n.391+4G>C)
c.*246G>C (n.*246G>C)
n.2473G>C
n.628G>C
c.602G>C (p.Arg201Pro)
c.698G>C
c.482G>C (p.Arg161Pro)
c.144G>C
n.605G>C
n.345G>C
c.*202G>C (n.*202G>C)
c.479G>C (p.Arg160Pro)
3g.139350279G=CA1405584427MRPS22c.395G= (p.Arg132=)
c.605G= (p.Arg202=)
n.619G=
c.224G= (p.Arg75=)
c.391+4G= (n.391+4G=)
c.*246G= (n.*246G=)
n.2473G=
n.628G=
c.602G= (p.Arg201=)
c.698G=
c.482G= (p.Arg161=)
c.144G=
n.605G=
n.345G=
c.*202G= (n.*202G=)
c.479G= (p.Arg160=)
3g.139350279G>TCA354761154MRPS22c.395G>T (p.Arg132Leu)
c.605G>T (p.Arg202Leu)
n.619G>T
c.224G>T (p.Arg75Leu)
c.391+4G>T (n.391+4G>T)
c.*246G>T (n.*246G>T)
n.2473G>T
n.628G>T
c.602G>T (p.Arg201Leu)
c.698G>T
c.482G>T (p.Arg161Leu)
c.144G>T
n.605G>T
n.345G>T
c.*202G>T (n.*202G>T)
c.479G>T (p.Arg160Leu)
 dbSNP gnomAD v2
3g.139350280T>ACA435882386MRPS22c.396T>A (p.Arg132=)
c.606T>A (p.Arg202=)
n.620T>A
c.225T>A (p.Arg75=)
c.391+5T>A (n.391+5T>A)
c.*247T>A (n.*247T>A)
n.2474T>A
n.629T>A
c.603T>A (p.Arg201=)
c.699T>A
c.483T>A (p.Arg161=)
c.145T>A
n.606T>A
n.346T>A
c.*203T>A (n.*203T>A)
c.480T>A (p.Arg160=)
3g.139350280T>CCA435882387MRPS22c.396T>C (p.Arg132=)
c.606T>C (p.Arg202=)
n.620T>C
c.225T>C (p.Arg75=)
c.391+5T>C (n.391+5T>C)
c.*247T>C (n.*247T>C)
n.2474T>C
n.629T>C
c.603T>C (p.Arg201=)
c.699T>C
c.483T>C (p.Arg161=)
c.145T>C
n.606T>C
n.346T>C
c.*203T>C (n.*203T>C)
c.480T>C (p.Arg160=)
3g.139350280T>GCA435882389MRPS22c.396T>G (p.Arg132=)
c.606T>G (p.Arg202=)
n.620T>G
c.225T>G (p.Arg75=)
c.391+5T>G (n.391+5T>G)
c.*247T>G (n.*247T>G)
n.2474T>G
n.629T>G
c.603T>G (p.Arg201=)
c.699T>G
c.483T>G (p.Arg161=)
c.145T>G
n.606T>G
n.346T>G
c.*203T>G (n.*203T>G)
c.480T>G (p.Arg160=)
3g.139350280_139350281delinsTACA1405584428MRPS22c.396_397delinsTA (p.Arg132=)
c.606_607delinsTA (p.Arg202=)
n.620_621delinsTA
c.225_226delinsTA (p.Arg75=)
c.391+5_391+6delinsTA (n.391+5_391+6delinsTA)
c.*247_*248delinsTA (n.*247_*248delinsTA)
n.2474_2475delinsTA
n.629_630delinsTA
c.603_604delinsTA (p.Arg201=)
c.699_700delinsTA
c.483_484delinsTA (p.Arg161=)
c.145_146delinsTA
n.606_607delinsTA
n.346_347delinsTA
c.*203_*204delinsTA (n.*203_*204delinsTA)
c.480_481delinsTA (p.Arg160=)
3g.139350281A=CA1405584430MRPS22c.397A= (p.Lys133=)
c.607A= (p.Lys203=)
n.621A=
c.226A= (p.Lys76=)
c.391+6A= (n.391+6A=)
c.*248A= (n.*248A=)
n.2475A=
n.630A=
c.604A= (p.Lys202=)
c.700A=
c.484A= (p.Lys162=)
c.146A=
n.607A=
n.347A=
c.*204A= (n.*204A=)
c.481A= (p.Lys161=)
3g.139350281A>CCA354761155MRPS22c.397A>C (p.Lys133Gln)
c.607A>C (p.Lys203Gln)
n.621A>C
c.226A>C (p.Lys76Gln)
c.391+6A>C (n.391+6A>C)
c.*248A>C (n.*248A>C)
n.2475A>C
n.630A>C
c.604A>C (p.Lys202Gln)
c.700A>C
c.484A>C (p.Lys162Gln)
c.146A>C
n.607A>C
n.347A>C
c.*204A>C (n.*204A>C)
c.481A>C (p.Lys161Gln)
 dbSNP gnomAD v2 gnomAD v4
3g.139350281A>GCA354761156MRPS22c.397A>G (p.Lys133Glu)
c.607A>G (p.Lys203Glu)
n.621A>G
c.226A>G (p.Lys76Glu)
c.391+6A>G (n.391+6A>G)
c.*248A>G (n.*248A>G)
n.2475A>G
n.630A>G
c.604A>G (p.Lys202Glu)
c.700A>G
c.484A>G (p.Lys162Glu)
c.146A>G
n.607A>G
n.347A>G
c.*204A>G (n.*204A>G)
c.481A>G (p.Lys161Glu)
 dbSNP
3g.139350281A>TCA354761157MRPS22c.397A>T (p.Lys133Ter)
c.607A>T (p.Lys203Ter)
n.621A>T
c.226A>T (p.Lys76Ter)
c.391+6A>T (n.391+6A>T)
c.*248A>T (n.*248A>T)
n.2475A>T
n.630A>T
c.604A>T (p.Lys202Ter)
c.700A>T
c.484A>T (p.Lys162Ter)
c.146A>T
n.607A>T
n.347A>T
c.*204A>T (n.*204A>T)
c.481A>T (p.Lys161Ter)
3g.139350284delCA1405584429MRPS22c.400del (p.Ile134PhefsTer2)
c.610del (p.Ile204PhefsTer2)
n.624del
c.229del (p.Ile77PhefsTer2)
c.391+9del (n.391+9del)
c.*251del (n.*251del)
n.2478del
n.633del
c.607del (p.Ile203PhefsTer2)
c.703del
c.487del (p.Ile163PhefsTer2)
c.149del
n.610del
n.350del
c.*207del (n.*207del)
c.484del (p.Ile162PhefsTer2)
 dbSNP
3g.139350282A>CCA354761160MRPS22c.398A>C (p.Lys133Thr)
c.608A>C (p.Lys203Thr)
n.622A>C
c.227A>C (p.Lys76Thr)
c.391+7A>C (n.391+7A>C)
c.*249A>C (n.*249A>C)
n.2476A>C
n.631A>C
c.605A>C (p.Lys202Thr)
c.701A>C
c.485A>C (p.Lys162Thr)
c.147A>C
n.608A>C
n.348A>C
c.*205A>C (n.*205A>C)
c.482A>C (p.Lys161Thr)
3g.139350282A>GCA354761159MRPS22c.398A>G (p.Lys133Arg)
c.608A>G (p.Lys203Arg)
n.622A>G
c.227A>G (p.Lys76Arg)
c.391+7A>G (n.391+7A>G)
c.*249A>G (n.*249A>G)
n.2476A>G
n.631A>G
c.605A>G (p.Lys202Arg)
c.701A>G
c.485A>G (p.Lys162Arg)
c.147A>G
n.608A>G
n.348A>G
c.*205A>G (n.*205A>G)
c.482A>G (p.Lys161Arg)
3g.139350282A>TCA354761158MRPS22c.398A>T (p.Lys133Ile)
c.608A>T (p.Lys203Ile)
n.622A>T
c.227A>T (p.Lys76Ile)
c.391+7A>T (n.391+7A>T)
c.*249A>T (n.*249A>T)
n.2476A>T
n.631A>T
c.605A>T (p.Lys202Ile)
c.701A>T
c.485A>T (p.Lys162Ile)
c.147A>T
n.608A>T
n.348A>T
c.*205A>T (n.*205A>T)
c.482A>T (p.Lys161Ile)
3g.139350283A>CCA354761161MRPS22c.399A>C (p.Lys133Asn)
c.609A>C (p.Lys203Asn)
n.623A>C
c.228A>C (p.Lys76Asn)
c.391+8A>C (n.391+8A>C)
c.*250A>C (n.*250A>C)
n.2477A>C
n.632A>C
c.606A>C (p.Lys202Asn)
c.702A>C
c.486A>C (p.Lys162Asn)
c.148A>C
n.609A>C
n.349A>C
c.*206A>C (n.*206A>C)
c.483A>C (p.Lys161Asn)
 COSMIC
3g.139350283A>GCA435882397MRPS22c.399A>G (p.Lys133=)
c.609A>G (p.Lys203=)
n.623A>G
c.228A>G (p.Lys76=)
c.391+8A>G (n.391+8A>G)
c.*250A>G (n.*250A>G)
n.2477A>G
n.632A>G
c.606A>G (p.Lys202=)
c.702A>G
c.486A>G (p.Lys162=)
c.148A>G
n.609A>G
n.349A>G
c.*206A>G (n.*206A>G)
c.483A>G (p.Lys161=)
 gnomAD v4
3g.139350283A>TCA354761162MRPS22c.399A>T (p.Lys133Asn)
c.609A>T (p.Lys203Asn)
n.623A>T
c.228A>T (p.Lys76Asn)
c.391+8A>T (n.391+8A>T)
c.*250A>T (n.*250A>T)
n.2477A>T
n.632A>T
c.606A>T (p.Lys202Asn)
c.702A>T
c.486A>T (p.Lys162Asn)
c.148A>T
n.609A>T
n.349A>T
c.*206A>T (n.*206A>T)
c.483A>T (p.Lys161Asn)
3g.139350284A=CA1405584431MRPS22c.400A= (p.Ile134=)
c.610A= (p.Ile204=)
n.624A=
c.229A= (p.Ile77=)
c.391+9A= (n.391+9A=)
c.*251A= (n.*251A=)
n.2478A=
n.633A=
c.607A= (p.Ile203=)
c.703A=
c.487A= (p.Ile163=)
c.149A=
n.610A=
n.350A=
c.*207A= (n.*207A=)
c.484A= (p.Ile162=)
3g.139350284A>CCA354761163MRPS22c.400A>C (p.Ile134Leu)
c.610A>C (p.Ile204Leu)
n.624A>C
c.229A>C (p.Ile77Leu)
c.391+9A>C (n.391+9A>C)
c.*251A>C (n.*251A>C)
n.2478A>C
n.633A>C
c.607A>C (p.Ile203Leu)
c.703A>C
c.487A>C (p.Ile163Leu)
c.149A>C
n.610A>C
n.350A>C
c.*207A>C (n.*207A>C)
c.484A>C (p.Ile162Leu)
3g.139350284A>GCA354761164MRPS22c.400A>G (p.Ile134Val)
c.610A>G (p.Ile204Val)
n.624A>G
c.229A>G (p.Ile77Val)
c.391+9A>G (n.391+9A>G)
c.*251A>G (n.*251A>G)
n.2478A>G
n.633A>G
c.607A>G (p.Ile203Val)
c.703A>G
c.487A>G (p.Ile163Val)
c.149A>G
n.610A>G
n.350A>G
c.*207A>G (n.*207A>G)
c.484A>G (p.Ile162Val)
 dbSNP
3g.139350284A>TCA354761165MRPS22c.400A>T (p.Ile134Phe)
c.610A>T (p.Ile204Phe)
n.624A>T
c.229A>T (p.Ile77Phe)
c.391+9A>T (n.391+9A>T)
c.*251A>T (n.*251A>T)
n.2478A>T
n.633A>T
c.607A>T (p.Ile203Phe)
c.703A>T
c.487A>T (p.Ile163Phe)
c.149A>T
n.610A>T
n.350A>T
c.*207A>T (n.*207A>T)
c.484A>T (p.Ile162Phe)
3g.139350285T>ACA354761166MRPS22c.401T>A (p.Ile134Asn)
c.611T>A (p.Ile204Asn)
n.625T>A
c.230T>A (p.Ile77Asn)
c.391+10T>A (n.391+10T>A)
c.*252T>A (n.*252T>A)
n.2479T>A
n.634T>A
c.608T>A (p.Ile203Asn)
c.704T>A
c.488T>A (p.Ile163Asn)
c.150T>A
n.611T>A
n.351T>A
c.*208T>A (n.*208T>A)
c.485T>A (p.Ile162Asn)
3g.139350285T>CCA354761167MRPS22c.401T>C (p.Ile134Thr)
c.611T>C (p.Ile204Thr)
n.625T>C
c.230T>C (p.Ile77Thr)
c.391+10T>C (n.391+10T>C)
c.*252T>C (n.*252T>C)
n.2479T>C
n.634T>C
c.608T>C (p.Ile203Thr)
c.704T>C
c.488T>C (p.Ile163Thr)
c.150T>C
n.611T>C
n.351T>C
c.*208T>C (n.*208T>C)
c.485T>C (p.Ile162Thr)
3g.139350285T>GCA354761168MRPS22c.401T>G (p.Ile134Ser)
c.611T>G (p.Ile204Ser)
n.625T>G
c.230T>G (p.Ile77Ser)
c.391+10T>G (n.391+10T>G)
c.*252T>G (n.*252T>G)
n.2479T>G
n.634T>G
c.608T>G (p.Ile203Ser)
c.704T>G
c.488T>G (p.Ile163Ser)
c.150T>G
n.611T>G
n.351T>G
c.*208T>G (n.*208T>G)
c.485T>G (p.Ile162Ser)
3g.139350286T>ACA435882408MRPS22c.402T>A (p.Ile134=)
c.612T>A (p.Ile204=)
n.626T>A
c.231T>A (p.Ile77=)
c.391+11T>A (n.391+11T>A)
c.*253T>A (n.*253T>A)
n.2480T>A
n.635T>A
c.609T>A (p.Ile203=)
c.705T>A
c.489T>A (p.Ile163=)
c.151T>A
n.612T>A
n.352T>A
c.*209T>A (n.*209T>A)
c.486T>A (p.Ile162=)
3g.139350286T>CCA435882407MRPS22c.402T>C (p.Ile134=)
c.612T>C (p.Ile204=)
n.626T>C
c.231T>C (p.Ile77=)
c.391+11T>C (n.391+11T>C)
c.*253T>C (n.*253T>C)
n.2480T>C
n.635T>C
c.609T>C (p.Ile203=)
c.705T>C
c.489T>C (p.Ile163=)
c.151T>C
n.612T>C
n.352T>C
c.*209T>C (n.*209T>C)
c.486T>C (p.Ile162=)
3g.139350286T>GCA354761169MRPS22c.402T>G (p.Ile134Met)
c.612T>G (p.Ile204Met)
n.626T>G
c.231T>G (p.Ile77Met)
c.391+11T>G (n.391+11T>G)
c.*253T>G (n.*253T>G)
n.2480T>G
n.635T>G
c.609T>G (p.Ile203Met)
c.705T>G
c.489T>G (p.Ile163Met)
c.151T>G
n.612T>G
n.352T>G
c.*209T>G (n.*209T>G)
c.486T>G (p.Ile162Met)
3g.139350287T>ACA354761170MRPS22c.403T>A (p.Leu135Met)
c.613T>A (p.Leu205Met)
n.627T>A
c.232T>A (p.Leu78Met)
c.391+12T>A (n.391+12T>A)
c.*254T>A (n.*254T>A)
n.2481T>A
n.636T>A
c.610T>A (p.Leu204Met)
c.706T>A
c.490T>A (p.Leu164Met)
c.152T>A
n.613T>A
n.353T>A
c.*210T>A (n.*210T>A)
c.487T>A (p.Leu163Met)
3g.139350287T>CCA435882411MRPS22c.403T>C (p.Leu135=)
c.613T>C (p.Leu205=)
n.627T>C
c.232T>C (p.Leu78=)
c.391+12T>C (n.391+12T>C)
c.*254T>C (n.*254T>C)
n.2481T>C
n.636T>C
c.610T>C (p.Leu204=)
c.706T>C
c.490T>C (p.Leu164=)
c.152T>C
n.613T>C
n.353T>C
c.*210T>C (n.*210T>C)
c.487T>C (p.Leu163=)
3g.139350287T>GCA354761171MRPS22c.403T>G (p.Leu135Val)
c.613T>G (p.Leu205Val)
n.627T>G
c.232T>G (p.Leu78Val)
c.391+12T>G (n.391+12T>G)
c.*254T>G (n.*254T>G)
n.2481T>G
n.636T>G
c.610T>G (p.Leu204Val)
c.706T>G
c.490T>G (p.Leu164Val)
c.152T>G
n.613T>G
n.353T>G
c.*210T>G (n.*210T>G)
c.487T>G (p.Leu163Val)
3g.139350288T>ACA354761173MRPS22c.404T>A (p.Leu135Ter)
c.614T>A (p.Leu205Ter)
n.628T>A
c.233T>A (p.Leu78Ter)
c.391+13T>A (n.391+13T>A)
c.*255T>A (n.*255T>A)
n.2482T>A
n.637T>A
c.611T>A (p.Leu204Ter)
c.707T>A
c.491T>A (p.Leu164Ter)
c.153T>A
n.614T>A
n.354T>A
c.*211T>A (n.*211T>A)
c.488T>A (p.Leu163Ter)
3g.139350288T>CCA354761175MRPS22c.404T>C (p.Leu135Ser)
c.614T>C (p.Leu205Ser)
n.628T>C
c.233T>C (p.Leu78Ser)
c.391+13T>C (n.391+13T>C)
c.*255T>C (n.*255T>C)
n.2482T>C
n.637T>C
c.611T>C (p.Leu204Ser)
c.707T>C
c.491T>C (p.Leu164Ser)
c.153T>C
n.614T>C
n.354T>C
c.*211T>C (n.*211T>C)
c.488T>C (p.Leu163Ser)
3g.139350288T>GCA354761177MRPS22c.404T>G (p.Leu135Trp)
c.614T>G (p.Leu205Trp)
n.628T>G
c.233T>G (p.Leu78Trp)
c.391+13T>G (n.391+13T>G)
c.*255T>G (n.*255T>G)
n.2482T>G
n.637T>G
c.611T>G (p.Leu204Trp)
c.707T>G
c.491T>G (p.Leu164Trp)
c.153T>G
n.614T>G
n.354T>G
c.*211T>G (n.*211T>G)
c.488T>G (p.Leu163Trp)
3g.139350289G>ACA435882417MRPS22c.405G>A (p.Leu135=)
c.615G>A (p.Leu205=)
n.629G>A
c.234G>A (p.Leu78=)
c.391+14G>A (n.391+14G>A)
c.*256G>A (n.*256G>A)
n.2483G>A
n.638G>A
c.612G>A (p.Leu204=)
c.708G>A
c.492G>A (p.Leu164=)
c.154G>A
n.615G>A
n.355G>A
c.*212G>A (n.*212G>A)
c.489G>A (p.Leu163=)
3g.139350289G>CCA354761178MRPS22c.405G>C (p.Leu135Phe)
c.615G>C (p.Leu205Phe)
n.629G>C
c.234G>C (p.Leu78Phe)
c.391+14G>C (n.391+14G>C)
c.*256G>C (n.*256G>C)
n.2483G>C
n.638G>C
c.612G>C (p.Leu204Phe)
c.708G>C
c.492G>C (p.Leu164Phe)
c.154G>C
n.615G>C
n.355G>C
c.*212G>C (n.*212G>C)
c.489G>C (p.Leu163Phe)
3g.139350289G=CA1405584432MRPS22c.405G= (p.Leu135=)
c.615G= (p.Leu205=)
n.629G=
c.234G= (p.Leu78=)
c.391+14G= (n.391+14G=)
c.*256G= (n.*256G=)
n.2483G=
n.638G=
c.612G= (p.Leu204=)
c.708G=
c.492G= (p.Leu164=)
c.154G=
n.615G=
n.355G=
c.*212G= (n.*212G=)
c.489G= (p.Leu163=)
3g.139350289G>TCA354761179MRPS22c.405G>T (p.Leu135Phe)
c.615G>T (p.Leu205Phe)
n.629G>T
c.234G>T (p.Leu78Phe)
c.391+14G>T (n.391+14G>T)
c.*256G>T (n.*256G>T)
n.2483G>T
n.638G>T
c.612G>T (p.Leu204Phe)
c.708G>T
c.492G>T (p.Leu164Phe)
c.154G>T
n.615G>T
n.355G>T
c.*212G>T (n.*212G>T)
c.489G>T (p.Leu163Phe)
 dbSNP

Number of alleles fetched