| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41869196_41869198del | CA16620855 | RPS19 | c.338_340del (p.Val113del) c.116_118del (p.Val39del) c.351_353del (p.Gly118del) | ClinVar dbSNP |
| 19 | g.41869196T>A | CA406030580 | RPS19 | c.338T>A (p.Val113Glu) c.116T>A (p.Val39Glu) c.351T>A (p.Gly117=) | |
| 19 | g.41869196T>C | CA406030582 | RPS19 | c.338T>C (p.Val113Ala) c.116T>C (p.Val39Ala) c.351T>C (p.Gly117=) | |
| 19 | g.41869196T>G | CA406030579 | RPS19 | c.338T>G (p.Val113Gly) c.116T>G (p.Val39Gly) c.351T>G (p.Gly117=) | dbSNP |
| 19 | g.41869196T= | CA2336668919 | RPS19 | c.338T= (p.Val113=) c.116T= (p.Val39=) c.351T= (p.Gly117=) | |
| 19 | g.41869197G>A | CA507576400 | RPS19 | c.339G>A (p.Val113=) c.117G>A (p.Val39=) c.352G>A (p.Gly118Arg) | gnomAD v4 |
| 19 | g.41869197G>C | CA507576401 | RPS19 | c.339G>C (p.Val113=) c.117G>C (p.Val39=) c.352G>C (p.Gly118Arg) | |
| 19 | g.41869197G>T | CA507576402 | RPS19 | c.339G>T (p.Val113=) c.117G>T (p.Val39=) c.352G>T (p.Gly118Ter) | |
| 19 | g.41869198G>A | CA406030585 | RPS19 | c.340G>A (p.Glu114Lys) c.118G>A (p.Glu40Lys) c.353G>A (p.Gly118Glu) | |
| 19 | g.41869198G>C | CA406030583 | RPS19 | c.340G>C (p.Glu114Gln) c.118G>C (p.Glu40Gln) c.353G>C (p.Gly118Ala) | |
| 19 | g.41869198G>T | CA406030584 | RPS19 | c.340G>T (p.Glu114Ter) c.118G>T (p.Glu40Ter) c.353G>T (p.Gly118Val) | |
| 19 | g.41869198_41869199delinsGA | CA2336668920 | RPS19 | c.340_341delinsGA (p.Glu114=) c.118_119delinsGA (p.Glu40=) c.353_354delinsGA (p.Gly118=) | |
| 19 | g.41869199A>C | CA406030586 | RPS19 | c.341A>C (p.Glu114Ala) c.119A>C (p.Glu40Ala) c.354A>C (p.Gly118=) | |
| 19 | g.41869199A>G | CA406030587 | RPS19 | c.341A>G (p.Glu114Gly) c.119A>G (p.Glu40Gly) c.354A>G (p.Gly118=) | |
| 19 | g.41869199A>T | CA406030588 | RPS19 | c.341A>T (p.Glu114Val) c.119A>T (p.Glu40Val) c.354A>T (p.Gly118=) | |
| 19 | g.41869201_41869202dup | CA2695228831 | RPS19 | c.343_344dup (p.Asp116ArgfsTer9) c.121_122dup (p.Asp42ArgfsTer9) c.356_357dup (p.Gly120LysfsTer?) | |
| 19 | g.41869202del | CA633185009 | RPS19 | c.344del (p.Lys115ArgfsTer9) c.122del (p.Lys41ArgfsTer9) c.357del (p.Gly120AspfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.41869200A>C | CA406030589 | RPS19 | c.342A>C (p.Glu114Asp) c.120A>C (p.Glu40Asp) c.355A>C (p.Lys119Gln) | gnomAD v4 |
| 19 | g.41869200A>G | CA507576403 | RPS19 | c.342A>G (p.Glu114=) c.120A>G (p.Glu40=) c.355A>G (p.Lys119Glu) | ClinVar |
| 19 | g.41869200A>T | CA406030590 | RPS19 | c.342A>T (p.Glu114Asp) c.120A>T (p.Glu40Asp) c.355A>T (p.Lys119Ter) | |
| 19 | g.41869201A>C | CA406030591 | RPS19 | c.343A>C (p.Lys115Gln) c.121A>C (p.Lys41Gln) c.356A>C (p.Lys119Thr) | |
| 19 | g.41869201A>G | CA406030592 | RPS19 | c.343A>G (p.Lys115Glu) c.121A>G (p.Lys41Glu) c.356A>G (p.Lys119Arg) | |
| 19 | g.41869201A>T | CA406030593 | RPS19 | c.343A>T (p.Lys115Ter) c.121A>T (p.Lys41Ter) c.356A>T (p.Lys119Ile) | |
| 19 | g.41869202A>C | CA406030594 | RPS19 | c.344A>C (p.Lys115Thr) c.122A>C (p.Lys41Thr) c.357A>C (p.Lys119Asn) | |
| 19 | g.41869202A>G | CA406030595 | RPS19 | c.344A>G (p.Lys115Arg) c.122A>G (p.Lys41Arg) c.357A>G (p.Lys119=) | gnomAD v4 |
| 19 | g.41869202A>T | CA406030596 | RPS19 | c.344A>T (p.Lys115Met) c.122A>T (p.Lys41Met) c.357A>T (p.Lys119Asn) | |
| 19 | g.41869203G>A | CA507576404 | RPS19 | c.345G>A (p.Lys115=) c.123G>A (p.Lys41=) c.358G>A (p.Gly120Arg) | dbSNP gnomAD v4 |
| 19 | g.41869203G>C | CA406030598 | RPS19 | c.345G>C (p.Lys115Asn) c.123G>C (p.Lys41Asn) c.358G>C (p.Gly120Arg) | |
| 19 | g.41869203G= | CA2336668921 | RPS19 | c.345G= (p.Lys115=) c.123G= (p.Lys41=) c.358G= (p.Gly120=) | |
| 19 | g.41869203G>T | CA406030597 | RPS19 | c.345G>T (p.Lys115Asn) c.123G>T (p.Lys41Asn) c.358G>T (p.Gly120Ter) | gnomAD v4 |
| 19 | g.41869204G>A | CA406030599 | RPS19 | c.346G>A (p.Asp116Asn) c.124G>A (p.Asp42Asn) c.359G>A (p.Gly120Glu) | |
| 19 | g.41869204G>C | CA406030600 | RPS19 | c.346G>C (p.Asp116His) c.124G>C (p.Asp42His) c.359G>C (p.Gly120Ala) | |
| 19 | g.41869204G>T | CA406030601 | RPS19 | c.346G>T (p.Asp116Tyr) c.124G>T (p.Asp42Tyr) c.359G>T (p.Gly120Val) | |
| 19 | g.41869205del | CA2580097300 | RPS19 | c.347del (p.Asp116AlafsTer8) c.125del (p.Asp42AlafsTer8) c.360del (p.Pro121GlnfsTer?) | ClinVar |
| 19 | g.41869205A= | CA2336668922 | RPS19 | c.347A= (p.Asp116=) c.125A= (p.Asp42=) c.360A= (p.Gly120=) | |
| 19 | g.41869205A>C | CA406030602 | RPS19 | c.347A>C (p.Asp116Ala) c.125A>C (p.Asp42Ala) c.360A>C (p.Gly120=) | |
| 19 | g.41869205A>G | CA406030603 | RPS19 | c.347A>G (p.Asp116Gly) c.125A>G (p.Asp42Gly) c.360A>G (p.Gly120=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.41869205A>T | CA406030604 | RPS19 | c.347A>T (p.Asp116Val) c.125A>T (p.Asp42Val) c.360A>T (p.Gly120=) | |
| 19 | g.41869206C>A | CA406030605 | RPS19 | c.348C>A (p.Asp116Glu) c.126C>A (p.Asp42Glu) c.361C>A (p.Pro121Thr) | |
| 19 | g.41869206C>G | CA406030606 | RPS19 | c.348C>G (p.Asp116Glu) c.126C>G (p.Asp42Glu) c.361C>G (p.Pro121Ala) | |
| 19 | g.41869206C>T | CA507576405 | RPS19 | c.348C>T (p.Asp116=) c.126C>T (p.Asp42=) c.361C>T (p.Pro121Ser) | gnomAD v4 |
| 19 | g.41869207C>A | CA406030607 | RPS19 | c.349C>A (p.Gln117Lys) c.127C>A (p.Gln43Lys) c.362C>A (p.Pro121Gln) | |
| 19 | g.41869207C= | CA2336668923 | RPS19 | c.349C= (p.Gln117=) c.127C= (p.Gln43=) c.362C= (p.Pro121=) | |
| 19 | g.41869207C>G | CA406030608 | RPS19 | c.349C>G (p.Gln117Glu) c.127C>G (p.Gln43Glu) c.362C>G (p.Pro121Arg) | dbSNP |
| 19 | g.41869207C>T | CA406030609 | RPS19 | c.349C>T (p.Gln117Ter) c.127C>T (p.Gln43Ter) c.362C>T (p.Pro121Leu) | |
| 19 | g.41869208A>C | CA406030610 | RPS19 | c.350A>C (p.Gln117Pro) c.128A>C (p.Gln43Pro) c.363A>C (p.Pro121=) | |
| 19 | g.41869208A>G | CA406030611 | RPS19 | c.350A>G (p.Gln117Arg) c.128A>G (p.Gln43Arg) c.363A>G (p.Pro121=) | |
| 19 | g.41869208A>T | CA406030612 | RPS19 | c.350A>T (p.Gln117Leu) c.128A>T (p.Gln43Leu) c.363A>T (p.Pro121=) | |
| 19 | g.41869209A>C | CA406030613 | RPS19 | c.351A>C (p.Gln117His) c.129A>C (p.Gln43His) c.364A>C (p.Arg122=) | |
| 19 | g.41869209A>G | CA507576406 | RPS19 | c.351A>G (p.Gln117=) c.129A>G (p.Gln43=) c.364A>G (p.Arg122Gly) | ClinVar COSMIC |