Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.41869198_41869199delinsGACA2336668920RPS19c.340_341delinsGA (p.Glu114=)
c.118_119delinsGA (p.Glu40=)
c.353_354delinsGA (p.Gly118=)
19g.41869199A>CCA406030586RPS19c.341A>C (p.Glu114Ala)
c.119A>C (p.Glu40Ala)
c.354A>C (p.Gly118=)
19g.41869199A>GCA406030587RPS19c.341A>G (p.Glu114Gly)
c.119A>G (p.Glu40Gly)
c.354A>G (p.Gly118=)
19g.41869199A>TCA406030588RPS19c.341A>T (p.Glu114Val)
c.119A>T (p.Glu40Val)
c.354A>T (p.Gly118=)
19g.41869201_41869202dupCA2695228831RPS19c.343_344dup (p.Asp116ArgfsTer9)
c.121_122dup (p.Asp42ArgfsTer9)
c.356_357dup (p.Gly120LysfsTer?)
19g.41869202delCA633185009RPS19c.344del (p.Lys115ArgfsTer9)
c.122del (p.Lys41ArgfsTer9)
c.357del (p.Gly120AspfsTer?)
 dbSNP gnomAD v2 gnomAD v4
19g.41869200A>CCA406030589RPS19c.342A>C (p.Glu114Asp)
c.120A>C (p.Glu40Asp)
c.355A>C (p.Lys119Gln)
 gnomAD v4
19g.41869200A>GCA507576403RPS19c.342A>G (p.Glu114=)
c.120A>G (p.Glu40=)
c.355A>G (p.Lys119Glu)
 ClinVar
19g.41869200A>TCA406030590RPS19c.342A>T (p.Glu114Asp)
c.120A>T (p.Glu40Asp)
c.355A>T (p.Lys119Ter)
19g.41869201A>CCA406030591RPS19c.343A>C (p.Lys115Gln)
c.121A>C (p.Lys41Gln)
c.356A>C (p.Lys119Thr)
19g.41869201A>GCA406030592RPS19c.343A>G (p.Lys115Glu)
c.121A>G (p.Lys41Glu)
c.356A>G (p.Lys119Arg)
19g.41869201A>TCA406030593RPS19c.343A>T (p.Lys115Ter)
c.121A>T (p.Lys41Ter)
c.356A>T (p.Lys119Ile)
19g.41869202A>CCA406030594RPS19c.344A>C (p.Lys115Thr)
c.122A>C (p.Lys41Thr)
c.357A>C (p.Lys119Asn)
19g.41869202A>GCA406030595RPS19c.344A>G (p.Lys115Arg)
c.122A>G (p.Lys41Arg)
c.357A>G (p.Lys119=)
 gnomAD v4
19g.41869202A>TCA406030596RPS19c.344A>T (p.Lys115Met)
c.122A>T (p.Lys41Met)
c.357A>T (p.Lys119Asn)
19g.41869203G>ACA507576404RPS19c.345G>A (p.Lys115=)
c.123G>A (p.Lys41=)
c.358G>A (p.Gly120Arg)
 dbSNP gnomAD v4
19g.41869203G>CCA406030598RPS19c.345G>C (p.Lys115Asn)
c.123G>C (p.Lys41Asn)
c.358G>C (p.Gly120Arg)
19g.41869203G=CA2336668921RPS19c.345G= (p.Lys115=)
c.123G= (p.Lys41=)
c.358G= (p.Gly120=)
19g.41869203G>TCA406030597RPS19c.345G>T (p.Lys115Asn)
c.123G>T (p.Lys41Asn)
c.358G>T (p.Gly120Ter)
 gnomAD v4
19g.41869204G>ACA406030599RPS19c.346G>A (p.Asp116Asn)
c.124G>A (p.Asp42Asn)
c.359G>A (p.Gly120Glu)
19g.41869204G>CCA406030600RPS19c.346G>C (p.Asp116His)
c.124G>C (p.Asp42His)
c.359G>C (p.Gly120Ala)
19g.41869204G>TCA406030601RPS19c.346G>T (p.Asp116Tyr)
c.124G>T (p.Asp42Tyr)
c.359G>T (p.Gly120Val)
19g.41869205delCA2580097300RPS19c.347del (p.Asp116AlafsTer8)
c.125del (p.Asp42AlafsTer8)
c.360del (p.Pro121GlnfsTer?)
 ClinVar
19g.41869205A=CA2336668922RPS19c.347A= (p.Asp116=)
c.125A= (p.Asp42=)
c.360A= (p.Gly120=)
19g.41869205A>CCA406030602RPS19c.347A>C (p.Asp116Ala)
c.125A>C (p.Asp42Ala)
c.360A>C (p.Gly120=)
19g.41869205A>GCA406030603RPS19c.347A>G (p.Asp116Gly)
c.125A>G (p.Asp42Gly)
c.360A>G (p.Gly120=)
 dbSNP gnomAD v2 gnomAD v4
19g.41869205A>TCA406030604RPS19c.347A>T (p.Asp116Val)
c.125A>T (p.Asp42Val)
c.360A>T (p.Gly120=)
19g.41869206C>ACA406030605RPS19c.348C>A (p.Asp116Glu)
c.126C>A (p.Asp42Glu)
c.361C>A (p.Pro121Thr)
19g.41869206C>GCA406030606RPS19c.348C>G (p.Asp116Glu)
c.126C>G (p.Asp42Glu)
c.361C>G (p.Pro121Ala)
19g.41869206C>TCA507576405RPS19c.348C>T (p.Asp116=)
c.126C>T (p.Asp42=)
c.361C>T (p.Pro121Ser)
 gnomAD v4
19g.41869207C>ACA406030607RPS19c.349C>A (p.Gln117Lys)
c.127C>A (p.Gln43Lys)
c.362C>A (p.Pro121Gln)
19g.41869207C=CA2336668923RPS19c.349C= (p.Gln117=)
c.127C= (p.Gln43=)
c.362C= (p.Pro121=)
19g.41869207C>GCA406030608RPS19c.349C>G (p.Gln117Glu)
c.127C>G (p.Gln43Glu)
c.362C>G (p.Pro121Arg)
 dbSNP
19g.41869207C>TCA406030609RPS19c.349C>T (p.Gln117Ter)
c.127C>T (p.Gln43Ter)
c.362C>T (p.Pro121Leu)
19g.41869208A>CCA406030610RPS19c.350A>C (p.Gln117Pro)
c.128A>C (p.Gln43Pro)
c.363A>C (p.Pro121=)
19g.41869208A>GCA406030611RPS19c.350A>G (p.Gln117Arg)
c.128A>G (p.Gln43Arg)
c.363A>G (p.Pro121=)
19g.41869208A>TCA406030612RPS19c.350A>T (p.Gln117Leu)
c.128A>T (p.Gln43Leu)
c.363A>T (p.Pro121=)
19g.41869209A>CCA406030613RPS19c.351A>C (p.Gln117His)
c.129A>C (p.Gln43His)
c.364A>C (p.Arg122=)
19g.41869209A>GCA507576406RPS19c.351A>G (p.Gln117=)
c.129A>G (p.Gln43=)
c.364A>G (p.Arg122Gly)
 ClinVar COSMIC
19g.41869209A>TCA406030614RPS19c.351A>T (p.Gln117His)
c.129A>T (p.Gln43His)
c.364A>T (p.Arg122Ter)
 gnomAD v4
19g.41869210G>ACA406030615RPS19c.352G>A (p.Asp118Asn)
c.130G>A (p.Asp44Asn)
c.365G>A (p.Arg122Lys)
 COSMIC
19g.41869210G>CCA406030616RPS19c.352G>C (p.Asp118His)
c.130G>C (p.Asp44His)
c.365G>C (p.Arg122Thr)
19g.41869210G>TCA406030617RPS19c.352G>T (p.Asp118Tyr)
c.130G>T (p.Asp44Tyr)
c.365G>T (p.Arg122Ile)
19g.41869211A>CCA406030618RPS19c.353A>C (p.Asp118Ala)
c.131A>C (p.Asp44Ala)
c.366A>C (p.Arg122Ser)
19g.41869211A>GCA406030619RPS19c.353A>G (p.Asp118Gly)
c.131A>G (p.Asp44Gly)
c.366A>G (p.Arg122=)
19g.41869211A>TCA406030620RPS19c.353A>T (p.Asp118Val)
c.131A>T (p.Asp44Val)
c.366A>T (p.Arg122Ser)
19g.41869212T>ACA9465371RPS19c.354T>A (p.Asp118Glu)
c.132T>A (p.Asp44Glu)
c.367T>A (p.Trp123Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41869212T>CCA507576407RPS19c.354T>C (p.Asp118=)
c.132T>C (p.Asp44=)
c.367T>C (p.Trp123Arg)
19g.41869212T>GCA406030621RPS19c.354T>G (p.Asp118Glu)
c.132T>G (p.Asp44Glu)
c.367T>G (p.Trp123Gly)
19g.41869212T=CA2336668924RPS19c.354T= (p.Asp118=)
c.132T= (p.Asp44=)
c.367T= (p.Trp123=)

Number of alleles fetched