OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.5691360G>A | CA505179856 | RPL36 | c.135G>A (p.Arg45=) n.877G>A | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.5691360G>C | CA505179857 | RPL36 | c.135G>C (p.Arg45=) n.877G>C | |
| 19 | g.5691360G= | CA2320057897 | RPL36 | c.135G= (p.Arg45=) n.877G= | |
| 19 | g.5691360G>T | CA505179858 | RPL36 | c.135G>T (p.Arg45=) n.877G>T | |
| 19 | g.5691361G>A | CA403523688 | RPL36 | c.136G>A (p.Glu46Lys) n.878G>A | |
| 19 | g.5691361G>C | CA403523689 | RPL36 | c.136G>C (p.Glu46Gln) n.878G>C | |
| 19 | g.5691361G>T | CA403523690 | RPL36 | c.136G>T (p.Glu46Ter) n.878G>T | |
| 19 | g.5691362A>C | CA403523691 | RPL36 | c.137A>C (p.Glu46Ala) n.879A>C | gnomAD v4 |
| 19 | g.5691362A>G | CA403523692 | RPL36 | c.137A>G (p.Glu46Gly) n.879A>G | |
| 19 | g.5691362A>T | CA403523693 | RPL36 | c.137A>T (p.Glu46Val) n.879A>T | |
| 19 | g.5691363G>A | CA9113805 | RPL36 | c.138G>A (p.Glu46=) n.880G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691363G>C | CA403523694 | RPL36 | c.138G>C (p.Glu46Asp) n.880G>C | |
| 19 | g.5691363G= | CA2320057898 | RPL36 | c.138G= (p.Glu46=) n.880G= | |
| 19 | g.5691363G>T | CA403523695 | RPL36 | c.138G>T (p.Glu46Asp) n.880G>T | |
| 19 | g.5691364G>A | CA403523696 | RPL36 | c.139G>A (p.Val47Met) n.881G>A | |
| 19 | g.5691364G>C | CA403523697 | RPL36 | c.139G>C (p.Val47Leu) n.881G>C | |
| 19 | g.5691364G>T | CA403523698 | RPL36 | c.139G>T (p.Val47Leu) n.881G>T | |
| 19 | g.5691365T>A | CA403523701 | RPL36 | c.140T>A (p.Val47Glu) n.882T>A | |
| 19 | g.5691365T>C | CA403523700 | RPL36 | c.140T>C (p.Val47Ala) n.882T>C | |
| 19 | g.5691365T>G | CA403523699 | RPL36 | c.140T>G (p.Val47Gly) n.882T>G | |
| 19 | g.5691366G>A | CA505179859 | RPL36 | c.141G>A (p.Val47=) n.883G>A | gnomAD v4 |
| 19 | g.5691366G>C | CA505179860 | RPL36 | c.141G>C (p.Val47=) n.883G>C | |
| 19 | g.5691366G>T | CA505179861 | RPL36 | c.141G>T (p.Val47=) n.883G>T | gnomAD v4 |
| 19 | g.5691367T>A | CA403523704 | RPL36 | c.142T>A (p.Cys48Ser) n.884T>A | |
| 19 | g.5691367T>C | CA403523702 | RPL36 | c.142T>C (p.Cys48Arg) n.884T>C | |
| 19 | g.5691367T>G | CA403523703 | RPL36 | c.142T>G (p.Cys48Gly) n.884T>G | |
| 19 | g.5691368G>A | CA403523705 | RPL36 | c.143G>A (p.Cys48Tyr) n.885G>A | |
| 19 | g.5691368G>C | CA403523706 | RPL36 | c.143G>C (p.Cys48Ser) n.885G>C | |
| 19 | g.5691368G>T | CA403523707 | RPL36 | c.143G>T (p.Cys48Phe) n.885G>T | |
| 19 | g.5691369T>A | CA403523708 | RPL36 | c.144T>A (p.Cys48Ter) n.886T>A | |
| 19 | g.5691369T>C | CA505179863 | RPL36 | c.144T>C (p.Cys48=) n.886T>C | |
| 19 | g.5691369T>G | CA403523709 | RPL36 | c.144T>G (p.Cys48Trp) n.886T>G | |
| 19 | g.5691370G>A | CA403523710 | RPL36 | c.145G>A (p.Gly49Ser) n.887G>A | |
| 19 | g.5691370G>C | CA403523711 | RPL36 | c.145G>C (p.Gly49Arg) n.887G>C | |
| 19 | g.5691370G>T | CA403523712 | RPL36 | c.145G>T (p.Gly49Cys) n.887G>T | |
| 19 | g.5691371G>A | CA403523713 | RPL36 | c.146G>A (p.Gly49Asp) n.888G>A | |
| 19 | g.5691371G>C | CA403523714 | RPL36 | c.146G>C (p.Gly49Ala) n.888G>C | |
| 19 | g.5691371G>T | CA403523715 | RPL36 | c.146G>T (p.Gly49Val) n.888G>T | |
| 19 | g.5691372C>A | CA505179865 | RPL36 | c.147C>A (p.Gly49=) n.889C>A | |
| 19 | g.5691372C= | CA2320057899 | RPL36 | c.147C= (p.Gly49=) n.889C= | |
| 19 | g.5691372C>G | CA9113806 | RPL36 | c.147C>G (p.Gly49=) n.889C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691372C>T | CA505179864 | RPL36 | c.147C>T (p.Gly49=) n.889C>T | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.5691373T>A | CA403523718 | RPL36 | c.148T>A (p.Phe50Ile) n.890T>A | |
| 19 | g.5691373T>C | CA403523717 | RPL36 | c.148T>C (p.Phe50Leu) n.890T>C | |
| 19 | g.5691373T>G | CA403523716 | RPL36 | c.148T>G (p.Phe50Val) n.890T>G | |
| 19 | g.5691374T>A | CA403523719 | RPL36 | c.149T>A (p.Phe50Tyr) n.891T>A | |
| 19 | g.5691374T>C | CA403523720 | RPL36 | c.149T>C (p.Phe50Ser) n.891T>C | |
| 19 | g.5691374T>G | CA403523721 | RPL36 | c.149T>G (p.Phe50Cys) n.891T>G | |
| 19 | g.5691375T>A | CA403523722 | RPL36 | c.150T>A (p.Phe50Leu) n.892T>A | |
| 19 | g.5691375T>C | CA505179866 | RPL36 | c.150T>C (p.Phe50=) n.892T>C | |
| 19 | g.5691375T>G | CA403523723 | RPL36 | c.150T>G (p.Phe50Leu) n.892T>G | |
| 19 | g.5691376G>A | CA403523724 | RPL36 | c.151G>A (p.Ala51Thr) n.893G>A | |
| 19 | g.5691376G>C | CA403523725 | RPL36 | c.151G>C (p.Ala51Pro) n.893G>C | |
| 19 | g.5691376G>T | CA403523726 | RPL36 | c.151G>T (p.Ala51Ser) n.893G>T | |
| 19 | g.5691377C>A | CA403523727 | RPL36 | c.152C>A (p.Ala51Asp) n.894C>A | |
| 19 | g.5691377C>G | CA403523728 | RPL36 | c.152C>G (p.Ala51Gly) n.894C>G | |
| 19 | g.5691377C>T | CA403523729 | RPL36 | c.152C>T (p.Ala51Val) n.894C>T | |
| 19 | g.5691378C>A | CA505179867 | RPL36 | c.153C>A (p.Ala51=) n.895C>A | |
| 19 | g.5691378C>G | CA505179868 | RPL36 | c.153C>G (p.Ala51=) n.895C>G | |
| 19 | g.5691378C>T | CA505179869 | RPL36 | c.153C>T (p.Ala51=) n.895C>T | |
| 19 | g.5691379C>A | CA403523730 | RPL36 | c.154C>A (p.Pro52Thr) n.896C>A | |
| 19 | g.5691379C>G | CA403523731 | RPL36 | c.154C>G (p.Pro52Ala) n.896C>G | |
| 19 | g.5691379C>T | CA403523732 | RPL36 | c.154C>T (p.Pro52Ser) n.896C>T | |
| 19 | g.5691380C>A | CA403523733 | RPL36 | c.155C>A (p.Pro52Gln) n.897C>A | |
| 19 | g.5691380C= | CA2320057900 | RPL36 | c.155C= (p.Pro52=) n.897C= | |
| 19 | g.5691380C>G | CA403523734 | RPL36 | c.155C>G (p.Pro52Arg) n.897C>G | gnomAD v4 |
| 19 | g.5691380C>T | CA9113807 | RPL36 | c.155C>T (p.Pro52Leu) n.897C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691381G>A | CA505179871 | RPL36 | c.156G>A (p.Pro52=) n.898G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691381G>C | CA505179872 | RPL36 | c.156G>C (p.Pro52=) n.898G>C | dbSNP |
| 19 | g.5691381G= | CA2320057901 | RPL36 | c.156G= (p.Pro52=) n.898G= | |
| 19 | g.5691381G>T | CA505179873 | RPL36 | c.156G>T (p.Pro52=) n.898G>T | gnomAD v4 |
| 19 | g.5691382T>A | CA403523735 | RPL36 | c.157T>A (p.Tyr53Asn) n.899T>A | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.5691382T>C | CA304607172 | RPL36 | c.157T>C (p.Tyr53His) n.899T>C | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.5691382T>G | CA403523736 | RPL36 | c.157T>G (p.Tyr53Asp) n.899T>G | |
| 19 | g.5691382T= | CA2320057902 | RPL36 | c.157T= (p.Tyr53=) n.899T= | |
| 19 | g.5691383A>C | CA403523737 | RPL36 | c.158A>C (p.Tyr53Ser) n.900A>C | |
| 19 | g.5691383A>G | CA403523738 | RPL36 | c.158A>G (p.Tyr53Cys) n.900A>G | |
| 19 | g.5691383A>T | CA403523739 | RPL36 | c.158A>T (p.Tyr53Phe) n.900A>T | |
| 19 | g.5691384C>A | CA403523740 | RPL36 | c.159C>A (p.Tyr53Ter) n.901C>A | |
| 19 | g.5691384C= | CA2320057903 | RPL36 | c.159C= (p.Tyr53=) n.901C= | |
| 19 | g.5691384C>G | CA403523741 | RPL36 | c.159C>G (p.Tyr53Ter) n.901C>G | |
| 19 | g.5691384C>T | CA9113808 | RPL36 | c.159C>T (p.Tyr53=) n.901C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691385G>A | CA403523742 | RPL36 | c.160G>A (p.Glu54Lys) n.902G>A | gnomAD v4 |
| 19 | g.5691385G>C | CA403523743 | RPL36 | c.160G>C (p.Glu54Gln) n.902G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691385G= | CA2320057904 | RPL36 | c.160G= (p.Glu54=) n.902G= | |
| 19 | g.5691385G>T | CA403523744 | RPL36 | c.160G>T (p.Glu54Ter) n.902G>T | |
| 19 | g.5691386A>C | CA403523746 | RPL36 | c.161A>C (p.Glu54Ala) n.903A>C | |
| 19 | g.5691386A>G | CA403523747 | RPL36 | c.161A>G (p.Glu54Gly) n.903A>G | |
| 19 | g.5691386A>T | CA403523745 | RPL36 | c.161A>T (p.Glu54Val) n.903A>T | |
| 19 | g.5691387G>A | CA505179874 | RPL36 | c.162G>A (p.Glu54=) n.904G>A | |
| 19 | g.5691387G>C | CA403523748 | RPL36 | c.162G>C (p.Glu54Asp) n.904G>C | dbSNP |
| 19 | g.5691387G= | CA2320057905 | RPL36 | c.162G= (p.Glu54=) n.904G= | |
| 19 | g.5691387G>T | CA403523749 | RPL36 | c.162G>T (p.Glu54Asp) n.904G>T | |
| 19 | g.5691388C>A | CA505179875 | RPL36 | c.163C>A (p.Arg55=) n.905C>A | |
| 19 | g.5691388C>G | CA403523750 | RPL36 | c.163C>G (p.Arg55Gly) n.905C>G | |
| 19 | g.5691388C>T | CA403523751 | RPL36 | c.163C>T (p.Arg55Trp) n.905C>T | |
| 19 | g.5691389G>A | CA403523754 | RPL36 | c.164G>A (p.Arg55Gln) n.906G>A | |
| 19 | g.5691389G>C | CA403523753 | RPL36 | c.164G>C (p.Arg55Pro) n.906G>C | |
| 19 | g.5691389G>T | CA403523752 | RPL36 | c.164G>T (p.Arg55Leu) n.906G>T | |
| 19 | g.5691390G>A | CA505179878 | RPL36 | c.165G>A (p.Arg55=) n.907G>A | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.5691390G>C | CA505179877 | RPL36 | c.165G>C (p.Arg55=) n.907G>C | |
| 19 | g.5691390G= | CA2320057906 | RPL36 | c.165G= (p.Arg55=) n.907G= | |
| 19 | g.5691390G>T | CA505179876 | RPL36 | c.165G>T (p.Arg55=) n.907G>T | |
| 19 | g.5691391C>A | CA403523755 | RPL36 | c.166C>A (p.Arg56Ser) | |
| 19 | g.5691391C>G | CA403523756 | RPL36 | c.166C>G (p.Arg56Gly) | |
| 19 | g.5691391C>T | CA403523757 | RPL36 | c.166C>T (p.Arg56Cys) | |
| 19 | g.5691392G>A | CA403523758 | RPL36 | c.167G>A (p.Arg56His) | |
| 19 | g.5691392G>C | CA403523759 | RPL36 | c.167G>C (p.Arg56Pro) | |
| 19 | g.5691392G>T | CA403523760 | RPL36 | c.167G>T (p.Arg56Leu) | |
| 19 | g.5691393C>A | CA505179879 | RPL36 | c.168C>A (p.Arg56=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.5691393C= | CA2320057907 | RPL36 | c.168C= (p.Arg56=) | |
| 19 | g.5691393C>G | CA505179880 | RPL36 | c.168C>G (p.Arg56=) | |
| 19 | g.5691393C>T | CA505179881 | RPL36 | c.168C>T (p.Arg56=) | dbSNP |
| 19 | g.5691394G>A | CA403523762 | RPL36 | c.169G>A (p.Ala57Thr) | |
| 19 | g.5691394G>C | CA403523761 | RPL36 | c.169G>C (p.Ala57Pro) | |
| 19 | g.5691394G= | CA2320057908 | RPL36 | c.169G= (p.Ala57=) | |
| 19 | g.5691394G>T | CA9113809 | RPL36 | c.169G>T (p.Ala57Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691395C>A | CA403523763 | RPL36 | c.170C>A (p.Ala57Asp) | |
| 19 | g.5691395C= | CA2320057909 | RPL36 | c.170C= (p.Ala57=) | |
| 19 | g.5691395C>G | CA403523765 | RPL36 | c.170C>G (p.Ala57Gly) | |
| 19 | g.5691395C>T | CA403523764 | RPL36 | c.170C>T (p.Ala57Val) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.5691396C>A | CA505179886 | RPL36 | c.171C>A (p.Ala57=) | |
| 19 | g.5691396C= | CA2320057910 | RPL36 | c.171C= (p.Ala57=) | |
| 19 | g.5691396C>G | CA505179884 | RPL36 | c.171C>G (p.Ala57=) | |
| 19 | g.5691396C>T | CA505179885 | RPL36 | c.171C>T (p.Ala57=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.5691397A= | CA2320057911 | RPL36 | c.172A= (p.Met58=) | |
| 19 | g.5691397A>C | CA403523766 | RPL36 | c.172A>C (p.Met58Leu) | |
| 19 | g.5691397A>G | CA403523767 | RPL36 | c.172A>G (p.Met58Val) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.5691397A>T | CA403523768 | RPL36 | c.172A>T (p.Met58Leu) | |
| 19 | g.5691398T>A | CA403523769 | RPL36 | c.173T>A (p.Met58Lys) | |
| 19 | g.5691398T>C | CA403523770 | RPL36 | c.173T>C (p.Met58Thr) | gnomAD v4 |
| 19 | g.5691398T>G | CA403523771 | RPL36 | c.173T>G (p.Met58Arg) | |
| 19 | g.5691399G>A | CA403523772 | RPL36 | c.174G>A (p.Met58Ile) | |
| 19 | g.5691399G>C | CA403523773 | RPL36 | c.174G>C (p.Met58Ile) | |
| 19 | g.5691399G>T | CA403523774 | RPL36 | c.174G>T (p.Met58Ile) | gnomAD v4 |
| 19 | g.5691400G>A | CA403523775 | RPL36 | c.175G>A (p.Glu59Lys) | |
| 19 | g.5691400G>C | CA403523776 | RPL36 | c.175G>C (p.Glu59Gln) | |
| 19 | g.5691400G>T | CA403523777 | RPL36 | c.175G>T (p.Glu59Ter) | |
| 19 | g.5691401A>C | CA403523780 | RPL36 | c.176A>C (p.Glu59Ala) | |
| 19 | g.5691401A>G | CA403523778 | RPL36 | c.176A>G (p.Glu59Gly) | |
| 19 | g.5691401A>T | CA403523779 | RPL36 | c.176A>T (p.Glu59Val) | |
| 19 | g.5691402G>A | CA505179893 | RPL36 | c.177G>A (p.Glu59=) | gnomAD v4 |
| 19 | g.5691402G>C | CA403523781 | RPL36 | c.177G>C (p.Glu59Asp) | |
| 19 | g.5691402G>T | CA403523782 | RPL36 | c.177G>T (p.Glu59Asp) | |
| 19 | g.5691403T>A | CA403523783 | RPL36 | c.178T>A (p.Leu60Ile) | |
| 19 | g.5691403T>C | CA505179895 | RPL36 | c.178T>C (p.Leu60=) | COSMIC |
| 19 | g.5691403T>G | CA403523784 | RPL36 | c.178T>G (p.Leu60Val) | |
| 19 | g.5691404T>A | CA403523785 | RPL36 | c.179T>A (p.Leu60Ter) | |
| 19 | g.5691404T>C | CA403523786 | RPL36 | c.179T>C (p.Leu60Ser) | gnomAD v4 |
| 19 | g.5691404T>G | CA403523787 | RPL36 | c.179T>G (p.Leu60Ter) | |
| 19 | g.5691405A>C | CA403523788 | RPL36 | c.180A>C (p.Leu60Phe) | |
| 19 | g.5691405A>G | CA505179898 | RPL36 | c.180A>G (p.Leu60=) | |
| 19 | g.5691405A>T | CA403523789 | RPL36 | c.180A>T (p.Leu60Phe) | |
| 19 | g.5691406C>A | CA403523790 | RPL36 | c.181C>A (p.Leu61Met) | |
| 19 | g.5691406C>G | CA403523791 | RPL36 | c.181C>G (p.Leu61Val) | |
| 19 | g.5691406C>T | CA505179900 | RPL36 | c.181C>T (p.Leu61=) | gnomAD v4 |
| 19 | g.5691407T>A | CA403523794 | RPL36 | c.182T>A (p.Leu61Gln) | |
| 19 | g.5691407T>C | CA403523793 | RPL36 | c.182T>C (p.Leu61Pro) | |
| 19 | g.5691407T>G | CA403523792 | RPL36 | c.182T>G (p.Leu61Arg) | |
| 19 | g.5691408G>A | CA505179903 | RPL36 | c.183G>A (p.Leu61=) | gnomAD v4 |
| 19 | g.5691408G>C | CA505179904 | RPL36 | c.183G>C (p.Leu61=) | dbSNP |
| 19 | g.5691408G= | CA2320057912 | RPL36 | c.183G= (p.Leu61=) | |
| 19 | g.5691408G>T | CA505179906 | RPL36 | c.183G>T (p.Leu61=) | |
| 19 | g.5691409A>C | CA403523797 | RPL36 | c.184A>C (p.Lys62Gln) | |
| 19 | g.5691409A>G | CA403523795 | RPL36 | c.184A>G (p.Lys62Glu) | |
| 19 | g.5691409A>T | CA403523796 | RPL36 | c.184A>T (p.Lys62Ter) | |
| 19 | g.5691410A>C | CA403523798 | RPL36 | c.185A>C (p.Lys62Thr) | |
| 19 | g.5691410A>G | CA403523799 | RPL36 | c.185A>G (p.Lys62Arg) | |
| 19 | g.5691410A>T | CA403523800 | RPL36 | c.185A>T (p.Lys62Met) | |
| 19 | g.5691411G>A | CA9113810 | RPL36 | c.186G>A (p.Lys62=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.5691411G>C | CA403523801 | RPL36 | c.186G>C (p.Lys62Asn) | |
| 19 | g.5691411G= | CA2320057913 | RPL36 | c.186G= (p.Lys62=) | |
| 19 | g.5691411G>T | CA403523802 | RPL36 | c.186G>T (p.Lys62Asn) | |
| 19 | g.5691412G>A | CA403523803 | RPL36 | c.187G>A (p.Val63Ile) | dbSNP |
| 19 | g.5691412G>C | CA403523804 | RPL36 | c.187G>C (p.Val63Leu) | |
| 19 | g.5691412G= | CA2320057914 | RPL36 | c.187G= (p.Val63=) | |
| 19 | g.5691412G>T | CA403523805 | RPL36 | c.187G>T (p.Val63Phe) | |
| 19 | g.5691413T>A | CA403523806 | RPL36 | c.188T>A (p.Val63Asp) | |
| 19 | g.5691413T>C | CA403523807 | RPL36 | c.188T>C (p.Val63Ala) | |
| 19 | g.5691413T>G | CA403523808 | RPL36 | c.188T>G (p.Val63Gly) | |
| 19 | g.5691414C>A | CA505179912 | RPL36 | c.189C>A (p.Val63=) | |
| 19 | g.5691414C= | CA2320057915 | RPL36 | c.189C= (p.Val63=) | |
| 19 | g.5691414C>G | CA505179913 | RPL36 | c.189C>G (p.Val63=) | dbSNP |
| 19 | g.5691414C>T | CA9113811 | RPL36 | c.189C>T (p.Val63=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.5691415T>A | CA403523809 | RPL36 | c.190T>A (p.Ser64Thr) | |
| 19 | g.5691415T>C | CA403523810 | RPL36 | c.190T>C (p.Ser64Pro) | |
| 19 | g.5691415T>G | CA403523811 | RPL36 | c.190T>G (p.Ser64Ala) | |
| 19 | g.5691416C>A | CA403523812 | RPL36 | c.191C>A (p.Ser64Tyr) | |
| 19 | g.5691416C>G | CA403523813 | RPL36 | c.191C>G (p.Ser64Cys) | |
| 19 | g.5691416C>T | CA403523814 | RPL36 | c.191C>T (p.Ser64Phe) | |
| 19 | g.5691417C>A | CA505179915 | RPL36 | c.192C>A (p.Ser64=) | |
| 19 | g.5691417C= | CA2320057916 | RPL36 | c.192C= (p.Ser64=) | |
| 19 | g.5691417C>G | CA505179916 | RPL36 | c.192C>G (p.Ser64=) | |
| 19 | g.5691417C>T | CA9113812 | RPL36 | c.192C>T (p.Ser64=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691418A>C | CA403523815 | RPL36 | c.193A>C (p.Lys65Gln) | |
| 19 | g.5691418A>G | CA403523816 | RPL36 | c.193A>G (p.Lys65Glu) | |
| 19 | g.5691418A>T | CA403523817 | RPL36 | c.193A>T (p.Lys65Ter) | |
| 19 | g.5691419A>C | CA403523818 | RPL36 | c.194A>C (p.Lys65Thr) | |
| 19 | g.5691419A>G | CA403523819 | RPL36 | c.194A>G (p.Lys65Arg) | |
| 19 | g.5691419A>T | CA403523820 | RPL36 | c.194A>T (p.Lys65Met) | gnomAD v4 |
| 19 | g.5691420G>A | CA9113813 | RPL36 | c.195G>A (p.Lys65=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691420G>C | CA403523822 | RPL36 | c.195G>C (p.Lys65Asn) | |
| 19 | g.5691420G= | CA2320057917 | RPL36 | c.195G= (p.Lys65=) | |
| 19 | g.5691420G>T | CA403523821 | RPL36 | c.195G>T (p.Lys65Asn) | |
| 19 | g.5691420_5691421del | CA2813410195 | RPL36 | c.195_196del (p.Asp66GlnfsTer?) | |
| 19 | g.5691421G>A | CA403523823 | RPL36 | c.196G>A (p.Asp66Asn) | |
| 19 | g.5691421G>C | CA403523825 | RPL36 | c.196G>C (p.Asp66His) | |
| 19 | g.5691421G>T | CA403523824 | RPL36 | c.196G>T (p.Asp66Tyr) | |
| 19 | g.5691422A>C | CA403523826 | RPL36 | c.197A>C (p.Asp66Ala) | |
| 19 | g.5691422A>G | CA403523827 | RPL36 | c.197A>G (p.Asp66Gly) | |
| 19 | g.5691422A>T | CA403523828 | RPL36 | c.197A>T (p.Asp66Val) | |
| 19 | g.5691423C>A | CA403523829 | RPL36 | c.198C>A (p.Asp66Glu) | |
| 19 | g.5691423C>G | CA403523830 | RPL36 | c.198C>G (p.Asp66Glu) | |
| 19 | g.5691423C>T | CA505179924 | RPL36 | c.198C>T (p.Asp66=) | gnomAD v4 |
| 19 | g.5691424A= | CA2320057918 | RPL36 | c.199A= (p.Lys67=) | |
| 19 | g.5691424A>C | CA403523831 | RPL36 | c.199A>C (p.Lys67Gln) | |
| 19 | g.5691424A>G | CA304607173 | RPL36 | c.199A>G (p.Lys67Glu) | dbSNP |
| 19 | g.5691424A>T | CA403523832 | RPL36 | c.199A>T (p.Lys67Ter) | |
| 19 | g.5691425A>C | CA403523833 | RPL36 | c.200A>C (p.Lys67Thr) | |
| 19 | g.5691425A>G | CA403523834 | RPL36 | c.200A>G (p.Lys67Arg) | |
| 19 | g.5691425A>T | CA403523835 | RPL36 | c.200A>T (p.Lys67Ile) | |
| 19 | g.5691426A= | CA2320057919 | RPL36 | c.201A= (p.Lys67=) | |
| 19 | g.5691426A>C | CA403523836 | RPL36 | c.201A>C (p.Lys67Asn) | |
| 19 | g.5691426A>G | CA505179932 | RPL36 | c.201A>G (p.Lys67=) | dbSNP gnomAD v4 |
| 19 | g.5691426A>T | CA403523837 | RPL36 | c.201A>T (p.Lys67Asn) | |
| 19 | g.5691427C>A | CA505179933 | RPL36 | c.202C>A (p.Arg68=) | |
| 19 | g.5691427C>G | CA403523838 | RPL36 | c.202C>G (p.Arg68Gly) | gnomAD v4 |
| 19 | g.5691427C>T | CA403523839 | RPL36 | c.202C>T (p.Arg68Trp) | gnomAD v4 |
| 19 | g.5691428G>A | CA403523840 | RPL36 | c.203G>A (p.Arg68Gln) | |
| 19 | g.5691428G>C | CA403523841 | RPL36 | c.203G>C (p.Arg68Pro) | |
| 19 | g.5691428G>T | CA403523842 | RPL36 | c.203G>T (p.Arg68Leu) | |
| 19 | g.5691429G>A | CA9113814 | RPL36 | c.204G>A (p.Arg68=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.5691429G>C | CA505179940 | RPL36 | c.204G>C (p.Arg68=) | dbSNP |
| 19 | g.5691429G= | CA2320057920 | RPL36 | c.204G= (p.Arg68=) | |
| 19 | g.5691429G>T | CA505179941 | RPL36 | c.204G>T (p.Arg68=) | |
| 19 | g.5691430G>A | CA403523843 | RPL36 | c.205G>A (p.Ala69Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.5691430G>C | CA403523844 | RPL36 | c.205G>C (p.Ala69Pro) | |
| 19 | g.5691430G= | CA2320057921 | RPL36 | c.205G= (p.Ala69=) | |
| 19 | g.5691430G>T | CA403523845 | RPL36 | c.205G>T (p.Ala69Ser) | |
| 19 | g.5691431C>A | CA403523846 | RPL36 | c.206C>A (p.Ala69Asp) | |
| 19 | g.5691431C>G | CA403523847 | RPL36 | c.206C>G (p.Ala69Gly) | |
| 19 | g.5691431C>T | CA403523848 | RPL36 | c.206C>T (p.Ala69Val) | |
| 19 | g.5691432C>A | CA505179943 | RPL36 | c.207C>A (p.Ala69=) | dbSNP |
| 19 | g.5691432C= | CA2320057922 | RPL36 | c.207C= (p.Ala69=) | |
| 19 | g.5691432C>G | CA505179944 | RPL36 | c.207C>G (p.Ala69=) | |
| 19 | g.5691432C>T | CA505179946 | RPL36 | c.207C>T (p.Ala69=) | dbSNP gnomAD v4 |
| 19 | g.5691433C>A | CA403523849 | RPL36 | c.208C>A (p.Leu70Ile) | |
| 19 | g.5691433C>G | CA403523850 | RPL36 | c.208C>G (p.Leu70Val) | |
| 19 | g.5691433C>T | CA403523851 | RPL36 | c.208C>T (p.Leu70Phe) | |
| 19 | g.5691434T>A | CA403523852 | RPL36 | c.209T>A (p.Leu70His) | |
| 19 | g.5691434T>C | CA403523854 | RPL36 | c.209T>C (p.Leu70Pro) | |
| 19 | g.5691434T>G | CA403523853 | RPL36 | c.209T>G (p.Leu70Arg) | |
| 19 | g.5691435C>A | CA505179948 | RPL36 | c.210C>A (p.Leu70=) | gnomAD v4 |
| 19 | g.5691435C= | CA2320057923 | RPL36 | c.210C= (p.Leu70=) | |
| 19 | g.5691435C>G | CA505179949 | RPL36 | c.210C>G (p.Leu70=) | |
| 19 | g.5691435C>T | CA9113815 | RPL36 | c.210C>T (p.Leu70=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.5691436A= | CA2320057924 | RPL36 | c.211A= (p.Lys71=) | |
| 19 | g.5691436A>C | CA403523855 | RPL36 | c.211A>C (p.Lys71Gln) | |
| 19 | g.5691436A>G | CA304607174 | RPL36 | c.211A>G (p.Lys71Glu) | dbSNP gnomAD v4 |
| 19 | g.5691436A>T | CA403523856 | RPL36 | c.211A>T (p.Lys71Ter) | |
| 19 | g.5691437A= | CA2320057925 | RPL36 | c.212A= (p.Lys71=) | |
| 19 | g.5691437A>C | CA403523857 | RPL36 | c.212A>C (p.Lys71Thr) | COSMIC |
| 19 | g.5691437A>G | CA403523858 | RPL36 | c.212A>G (p.Lys71Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.5691437A>T | CA403523859 | RPL36 | c.212A>T (p.Lys71Ile) | |
| 19 | g.5691438A= | CA2320057926 | RPL36 | c.213A= (p.Lys71=) | |
| 19 | g.5691438A>C | CA403523860 | RPL36 | c.213A>C (p.Lys71Asn) | |
| 19 | g.5691438A>G | CA505179956 | RPL36 | c.213A>G (p.Lys71=) | dbSNP |
| 19 | g.5691438A>T | CA403523861 | RPL36 | c.213A>T (p.Lys71Asn) | |
| 19 | g.5691438_5691439insCACACCCAACACA | CA2813410197 | RPL36 | c.213_214insCACACCCAACACA (p.Phe72HisfsTer?) | |
| 19 | g.5691438_5691439insAAACACCAAACACACCCAACACA | CA2813410196 | RPL36 | c.213_214insAAACACCAAACACACCCAACACA (p.Phe72LysfsTer27) c.213_214insAAACACCAAACACACCCAACACA (p.Phe72LysfsTer14) | |
| 19 | g.5691439T>A | CA403523862 | RPL36 | c.214T>A (p.Phe72Ile) | |
| 19 | g.5691439T>C | CA403523863 | RPL36 | c.214T>C (p.Phe72Leu) | gnomAD v4 |
| 19 | g.5691439T>G | CA403523864 | RPL36 | c.214T>G (p.Phe72Val) | |
| 19 | g.5691440T>A | CA9113816 | RPL36 | c.215T>A (p.Phe72Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691440T>C | CA403523866 | RPL36 | c.215T>C (p.Phe72Ser) | |
| 19 | g.5691440T>G | CA403523865 | RPL36 | c.215T>G (p.Phe72Cys) | |
| 19 | g.5691440T= | CA2320057927 | RPL36 | c.215T= (p.Phe72=) | |
| 19 | g.5691441T>A | CA403523867 | RPL36 | c.216T>A (p.Phe72Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691441T>C | CA505179844 | RPL36 | c.216T>C (p.Phe72=) | dbSNP |
| 19 | g.5691441T>G | CA403523868 | RPL36 | c.216T>G (p.Phe72Leu) | |
| 19 | g.5691441T= | CA2320057928 | RPL36 | c.216T= (p.Phe72=) | |
| 19 | g.5691442A= | CA2320057929 | RPL36 | c.217A= (p.Ile73=) | |
| 19 | g.5691442A>C | CA403523869 | RPL36 | c.217A>C (p.Ile73Leu) | |
| 19 | g.5691442A>G | CA403523870 | RPL36 | c.217A>G (p.Ile73Val) | dbSNP |
| 19 | g.5691442A>T | CA403523871 | RPL36 | c.217A>T (p.Ile73Phe) | |
| 19 | g.5691443T>A | CA403523872 | RPL36 | c.218T>A (p.Ile73Asn) | |
| 19 | g.5691443T>C | CA403523873 | RPL36 | c.218T>C (p.Ile73Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691443T>G | CA403523874 | RPL36 | c.218T>G (p.Ile73Ser) | |
| 19 | g.5691443T= | CA2320057930 | RPL36 | c.218T= (p.Ile73=) | |
| 19 | g.5691444C>A | CA505179846 | RPL36 | c.219C>A (p.Ile73=) | |
| 19 | g.5691444C>G | CA403523875 | RPL36 | c.219C>G (p.Ile73Met) | |
| 19 | g.5691444C>T | CA505179845 | RPL36 | c.219C>T (p.Ile73=) | gnomAD v4 |
| 19 | g.5691444_5691447delinsCAAG | CA2320057931 | RPL36 | c.219_222delinsCAAG (p.Ile73=) | |
| 19 | g.5691445A>C | CA403523876 | RPL36 | c.220A>C (p.Lys74Gln) | |
| 19 | g.5691445A>G | CA403523877 | RPL36 | c.220A>G (p.Lys74Glu) | |
| 19 | g.5691445A>T | CA403523878 | RPL36 | c.220A>T (p.Lys74Ter) | |
| 19 | g.5691447_5691449del | CA992978114 | RPL36 | c.222_224del (p.Lys75del) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.5691446A>C | CA403523879 | RPL36 | c.221A>C (p.Lys74Thr) | |
| 19 | g.5691446A>G | CA403523881 | RPL36 | c.221A>G (p.Lys74Arg) | |
| 19 | g.5691446A>T | CA403523880 | RPL36 | c.221A>T (p.Lys74Met) | |
| 19 | g.5691447G>A | CA505179848 | RPL36 | c.222G>A (p.Lys74=) | |
| 19 | g.5691447G>C | CA403523882 | RPL36 | c.222G>C (p.Lys74Asn) | gnomAD v4 |
| 19 | g.5691447G>T | CA403523883 | RPL36 | c.222G>T (p.Lys74Asn) | |
| 19 | g.5691448A= | CA2320057932 | RPL36 | c.223A= (p.Lys75=) | |
| 19 | g.5691448A>C | CA403523884 | RPL36 | c.223A>C (p.Lys75Gln) | dbSNP |
| 19 | g.5691448A>G | CA403523885 | RPL36 | c.223A>G (p.Lys75Glu) | gnomAD v4 |
| 19 | g.5691448A>T | CA403523886 | RPL36 | c.223A>T (p.Lys75Ter) | |
| 19 | g.5691449A>C | CA403523887 | RPL36 | c.224A>C (p.Lys75Thr) | |
| 19 | g.5691449A>G | CA403523888 | RPL36 | c.224A>G (p.Lys75Arg) | |
| 19 | g.5691449A>T | CA403523889 | RPL36 | c.224A>T (p.Lys75Ile) | |
| 19 | g.5691449_5691473delinsAAAGGGTAGGTGGGCGCTGCCGGCC | CA2320057933 | RPL36 | c.224_228+20delinsAAAGGGTAGGTGGGCGCTGCCGGCC c.224_248delinsAAAGGGTAGGTGGGCGCTGCCGGCC (p.Lys75=) | |
| 19 | g.5691450A>C | CA403523890 | RPL36 | c.225A>C (p.Lys75Asn) | |
| 19 | g.5691450A>G | CA505179849 | RPL36 | c.225A>G (p.Lys75=) | |
| 19 | g.5691450A>T | CA403523891 | RPL36 | c.225A>T (p.Lys75Asn) | |
| 19 | g.5691450_5691473del | CA2320057934 | RPL36 | c.225_228+20del c.225_248del (p.Arg76_Pro83del) | dbSNP |
| 19 | g.5691451A= | CA2320057935 | RPL36 | c.226A= (p.Arg76=) | |
| 19 | g.5691451A>C | CA505179850 | RPL36 | c.226A>C (p.Arg76=) | |
| 19 | g.5691451A>G | CA403523892 | RPL36 | c.226A>G (p.Arg76Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.5691451A>T | CA403523893 | RPL36 | c.226A>T (p.Arg76Trp) | gnomAD v4 |
| 19 | g.5691452G>A | CA403523896 | RPL36 | c.227G>A (p.Arg76Lys) | dbSNP |
| 19 | g.5691452G>C | CA403523895 | RPL36 | c.227G>C (p.Arg76Thr) | gnomAD v4 |
| 19 | g.5691452G= | CA2320057936 | RPL36 | c.227G= (p.Arg76=) | |
| 19 | g.5691452G>T | CA403523894 | RPL36 | c.227G>T (p.Arg76Met) | |
| 19 | g.5691452_5691530delinsGGGTAGGTGGGCGCTGCCGGCCGAGGGGCGGGGTGGGATGGGAGTCAGGGCCGGGCTGACGGCGGCCTCGTCCCTGGCA | CA2320057937 | RPL36 | c.227_229-2delinsGGGTAGGTGGGCGCTGCCGGCCGAGGGGCGGGGTGGGATGGGAGTCAGGGCCGGGCTGACGGCGGCCTCGTCCCTGGCA c.227_*20delinsGGGTAGGTGGGCGCTGCCGGCCGAGGGGCGGGGTGGGATGGGAGTCAGGGCCGGGCTGACGGCGGCCTCGTCCCTGGCA (n.[c.227_*20delinsGGGTAGGTGGGCGCTGCCGGCCGAGGGGCGGGGTGGGATGGGAGTCAGGGCCGGGCTGACGGCGGCCTCGTCCCTGGCA;Arg76=]) | |
| 19 | g.5691453G>A | CA505179851 | RPL36 | c.228G>A (p.Arg76=) | gnomAD v4 |
| 19 | g.5691453G>C | CA403523897 | RPL36 | c.228G>C (p.Arg76Ser) | |
| 19 | g.5691453G>T | CA403523898 | RPL36 | c.228G>T (p.Arg76Ser) | |
| 19 | g.5691456_5691533del | CA9113817 | RPL36 | c.228+3_230del c.231_*23del (n.[c.231_*23del;Gly79ThrfsTer28]) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691454G>A | CA403523899 | RPL36 | c.228+1G>A (n.228+1G>A) c.229G>A (p.Val77Ile) | |
| 19 | g.5691454G>C | CA403523900 | RPL36 | c.228+1G>C (n.228+1G>C) c.229G>C (p.Val77Leu) | |
| 19 | g.5691454G= | CA2320057938 | RPL36 | c.228+1G= (n.228+1G=) c.229G= (p.Val77=) | |
| 19 | g.5691454G>T | CA403523901 | RPL36 | c.228+1G>T (n.228+1G>T) c.229G>T (p.Val77Leu) | |
| 19 | g.5691455T>A | CA403523902 | RPL36 | c.228+2T>A (n.228+2T>A) c.230T>A (p.Val77Glu) | |
| 19 | g.5691455T>C | CA403523903 | RPL36 | c.228+2T>C (n.228+2T>C) c.230T>C (p.Val77Ala) | |
| 19 | g.5691455T>G | CA403523904 | RPL36 | c.228+2T>G (n.228+2T>G) c.230T>G (p.Val77Gly) | |
| 19 | g.5691455T= | CA2320057939 | RPL36 | c.228+2T= (n.228+2T=) c.230T= (p.Val77=) | |
| 19 | g.5691455_5691459dup | CA505179855 | RPL36 | c.228+2_228+6dup (n.228+2_228+6dup) c.230_234dup (p.Gly79Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.5691455_5691456insGGGGACGCAC | CA2587404962 | RPL36 | c.228+2_228+3insGGGGACGCAC (n.228+2_228+3insGGGGACGCAC) c.230_231insGGGGACGCAC (p.Gly79ThrfsTer?) | gnomAD v4 |
| 19 | g.5691456del | CA2587404963 | RPL36 | c.228+3del (n.228+3del) c.231del (p.Gly78ValfsTer?) | gnomAD v4 |
| 19 | g.5691456A= | CA2320057940 | RPL36 | c.228+3A= (n.228+3A=) c.231A= (p.Val77=) | |
| 19 | g.5691456A>G | CA304607175 | RPL36 | c.228+3A>G (n.228+3A>G) c.231A>G (p.Val77=) | dbSNP gnomAD v4 |
| 19 | g.5691456A>T | CA992978125 | RPL36 | c.228+3A>T (n.228+3A>T) c.231A>T (p.Val77=) | gnomAD v3 gnomAD v4 |
| 19 | g.5691459_5691477dup | CA920046092 | RPL36 | c.228+6_228+24dup (n.228+6_228+24dup) c.234_252dup (p.Gly85TrpfsTer?) | dbSNP gnomAD v4 |
| 19 | g.5691457G>A | CA403523905 | RPL36 | c.228+4G>A (n.228+4G>A) c.232G>A (p.Gly78Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.5691457G>C | CA403523906 | RPL36 | c.228+4G>C (n.228+4G>C) c.232G>C (p.Gly78Arg) | |
| 19 | g.5691457G= | CA2320057941 | RPL36 | c.228+4G= (n.228+4G=) c.232G= (p.Gly78=) | |
| 19 | g.5691457G>T | CA403523907 | RPL36 | c.228+4G>T (n.228+4G>T) c.232G>T (p.Gly78Cys) | |
| 19 | g.5691458G>A | CA403523909 | RPL36 | c.228+5G>A (n.228+5G>A) c.233G>A (p.Gly78Asp) | gnomAD v4 |
| 19 | g.5691458G>C | CA403523910 | RPL36 | c.228+5G>C (n.228+5G>C) c.233G>C (p.Gly78Ala) | |
| 19 | g.5691458G>T | CA403523908 | RPL36 | c.228+5G>T (n.228+5G>T) c.233G>T (p.Gly78Val) | |
| 19 | g.5691458_5691459insGACGCACA | CA2587404964 | RPL36 | c.228+5_228+6insGACGCACA (n.228+5_228+6insGACGCACA) c.233_234insGACGCACA (p.Gly79ThrfsTer?) | gnomAD v4 |
| 19 | g.5691459del | CA2587404966 | RPL36 | c.228+6del (n.228+6del) c.234del (p.Arg80AlafsTer?) | gnomAD v4 |
| 19 | g.5691459T>A | CA9113818 | RPL36 | c.228+6T>A (n.228+6T>A) c.234T>A (p.Gly78=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.5691459T>C | CA2587404965 | RPL36 | c.228+6T>C (n.228+6T>C) c.234T>C (p.Gly78=) | gnomAD v4 |
| 19 | g.5691459T>G | CA2320057943 | RPL36 | c.228+6T>G (n.228+6T>G) c.234T>G (p.Gly78=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.5691459T= | CA2320057942 | RPL36 | c.228+6T= (n.228+6T=) c.234T= (p.Gly78=) | |
| 19 | g.5691460G>A | CA403523911 | RPL36 | c.228+7G>A (n.228+7G>A) c.235G>A (p.Gly79Arg) | dbSNP |
| 19 | g.5691460G>C | CA403523912 | RPL36 | c.228+7G>C (n.228+7G>C) c.235G>C (p.Gly79Arg) | |
| 19 | g.5691460G= | CA2320057944 | RPL36 | c.228+7G= (n.228+7G=) c.235G= (p.Gly79=) | |
| 19 | g.5691460G>T | CA403523913 | RPL36 | c.228+7G>T (n.228+7G>T) c.235G>T (p.Gly79Trp) |