| 5 | g.69419917_69419919del | CA2674131222 | MARVELD2 | c.532_534del (p.Glu178del)
| gnomAD v4 |
| 5 | g.69419915A= | CA1553916610 | MARVELD2 | c.530A= (p.Glu177=)
| |
| 5 | g.69419915A>C | CA359923750 | MARVELD2 | c.530A>C (p.Glu177Ala)
| |
| 5 | g.69419915A>G | CA3294069 | MARVELD2 | c.530A>G (p.Glu177Gly)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419915A>T | CA359923751 | MARVELD2 | c.530A>T (p.Glu177Val)
| |
| 5 | g.69419916G>A | CA3294070 | MARVELD2 | c.531G>A (p.Glu177=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69419916G>C | CA359923752 | MARVELD2 | c.531G>C (p.Glu177Asp)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69419916G= | CA1553916612 | MARVELD2 | c.531G= (p.Glu177=)
| |
| 5 | g.69419916G>T | CA359923753 | MARVELD2 | c.531G>T (p.Glu177Asp)
| |
| 5 | g.69419917G>A | CA359923756 | MARVELD2 | c.532G>A (p.Glu178Lys)
| |
| 5 | g.69419917G>C | CA359923755 | MARVELD2 | c.532G>C (p.Glu178Gln)
| |
| 5 | g.69419917G>T | CA359923754 | MARVELD2 | c.532G>T (p.Glu178Ter)
| |
| 5 | g.69419918A= | CA1553916618 | MARVELD2 | c.533A= (p.Glu178=)
| |
| 5 | g.69419918A>C | CA359923757 | MARVELD2 | c.533A>C (p.Glu178Ala)
| |
| 5 | g.69419918A>G | CA3294071 | MARVELD2 | c.533A>G (p.Glu178Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69419918A>T | CA359923758 | MARVELD2 | c.533A>T (p.Glu178Val)
| |
| 5 | g.69419919G>A | CA3294072 | MARVELD2 | c.534G>A (p.Glu178=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419919G>C | CA359923759 | MARVELD2 | c.534G>C (p.Glu178Asp)
| |
| 5 | g.69419919G= | CA1553916620 | MARVELD2 | c.534G= (p.Glu178=)
| |
| 5 | g.69419919G>T | CA359923760 | MARVELD2 | c.534G>T (p.Glu178Asp)
| |
| 5 | g.69419920T>A | CA359923761 | MARVELD2 | c.535T>A (p.Tyr179Asn)
| |
| 5 | g.69419920T>C | CA359923762 | MARVELD2 | c.535T>C (p.Tyr179His)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.69419920T>G | CA359923763 | MARVELD2 | c.535T>G (p.Tyr179Asp)
| |
| 5 | g.69419920T= | CA1553916623 | MARVELD2 | c.535T= (p.Tyr179=)
| |
| 5 | g.69419921A>C | CA359923764 | MARVELD2 | c.536A>C (p.Tyr179Ser)
| |
| 5 | g.69419921A>G | CA359923765 | MARVELD2 | c.536A>G (p.Tyr179Cys)
| |
| 5 | g.69419921A>T | CA359923766 | MARVELD2 | c.536A>T (p.Tyr179Phe)
| |
| 5 | g.69419922T>A | CA359923767 | MARVELD2 | c.537T>A (p.Tyr179Ter)
| |
| 5 | g.69419922T>C | CA445083989 | MARVELD2 | c.537T>C (p.Tyr179=)
| |
| 5 | g.69419922T>G | CA359923768 | MARVELD2 | c.537T>G (p.Tyr179Ter)
| |
| 5 | g.69419923A= | CA1553916625 | MARVELD2 | c.538A= (p.Asn180=)
| |
| 5 | g.69419923A>C | CA359923770 | MARVELD2 | c.538A>C (p.Asn180His)
| |
| 5 | g.69419923A>G | CA359923771 | MARVELD2 | c.538A>G (p.Asn180Asp)
| |
| 5 | g.69419923A>T | CA359923769 | MARVELD2 | c.538A>T (p.Asn180Tyr)
| |
| 5 | g.69419924A>C | CA359923772 | MARVELD2 | c.539A>C (p.Asn180Thr)
| |
| 5 | g.69419924A>G | CA359923773 | MARVELD2 | c.539A>G (p.Asn180Ser)
| |
| 5 | g.69419924A>T | CA359923774 | MARVELD2 | c.539A>T (p.Asn180Ile)
| |
| 5 | g.69419926_69419934dup | CA813532978 | MARVELD2 | c.541_549dup (p.Tyr183_Ser184insLeuArgTyr)
| dbSNP |
| 5 | g.69419925C>A | CA359923775 | MARVELD2 | c.540C>A (p.Asn180Lys)
| |
| 5 | g.69419925C>G | CA359923776 | MARVELD2 | c.540C>G (p.Asn180Lys)
| |
| 5 | g.69419925C>T | CA445083994 | MARVELD2 | c.540C>T (p.Asn180=)
| |
| 5 | g.69419926C>A | CA359923777 | MARVELD2 | c.541C>A (p.Leu181Met)
| |
| 5 | g.69419926C= | CA1553916629 | MARVELD2 | c.541C= (p.Leu181=)
| |
| 5 | g.69419926C>G | CA3294073 | MARVELD2 | c.541C>G (p.Leu181Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69419926C>T | CA445083996 | MARVELD2 | c.541C>T (p.Leu181=)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.69419927T>A | CA359923778 | MARVELD2 | c.542T>A (p.Leu181Gln)
| |
| 5 | g.69419927T>C | CA359923779 | MARVELD2 | c.542T>C (p.Leu181Pro)
| |
| 5 | g.69419927T>G | CA359923780 | MARVELD2 | c.542T>G (p.Leu181Arg)
| |
| 5 | g.69419928G>A | CA445084003 | MARVELD2 | c.543G>A (p.Leu181=)
| |
| 5 | g.69419928G>C | CA445084004 | MARVELD2 | c.543G>C (p.Leu181=)
| |
| 5 | g.69419928G>T | CA445084005 | MARVELD2 | c.543G>T (p.Leu181=)
| |
| 5 | g.69419929A= | CA1553916631 | MARVELD2 | c.544A= (p.Arg182=)
| |
| 5 | g.69419929A>C | CA445084006 | MARVELD2 | c.544A>C (p.Arg182=)
| dbSNP gnomAD v4 |
| 5 | g.69419929A>G | CA359923781 | MARVELD2 | c.544A>G (p.Arg182Gly)
| |
| 5 | g.69419929A>T | CA359923782 | MARVELD2 | c.544A>T (p.Arg182Ter)
| |
| 5 | g.69419930G>A | CA359923785 | MARVELD2 | c.545G>A (p.Arg182Lys)
| gnomAD v4 |
| 5 | g.69419930G>C | CA359923784 | MARVELD2 | c.545G>C (p.Arg182Thr)
| |
| 5 | g.69419930G>T | CA359923783 | MARVELD2 | c.545G>T (p.Arg182Ile)
| gnomAD v4 |
| 5 | g.69419931A>C | CA359923786 | MARVELD2 | c.546A>C (p.Arg182Ser)
| |
| 5 | g.69419931A>G | CA445084012 | MARVELD2 | c.546A>G (p.Arg182=)
| gnomAD v4 |
| 5 | g.69419931A>T | CA359923787 | MARVELD2 | c.546A>T (p.Arg182Ser)
| |
| 5 | g.69419932T>A | CA359923788 | MARVELD2 | c.547T>A (p.Tyr183Asn)
| |
| 5 | g.69419932T>C | CA359923789 | MARVELD2 | c.547T>C (p.Tyr183His)
| gnomAD v4 |
| 5 | g.69419932T>G | CA359923790 | MARVELD2 | c.547T>G (p.Tyr183Asp)
| |
| 5 | g.69419933A= | CA1553916633 | MARVELD2 | c.548A= (p.Tyr183=)
| |
| 5 | g.69419933A>C | CA359923791 | MARVELD2 | c.548A>C (p.Tyr183Ser)
| |
| 5 | g.69419933A>G | CA119991615 | MARVELD2 | c.548A>G (p.Tyr183Cys)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.69419933A>T | CA359923792 | MARVELD2 | c.548A>T (p.Tyr183Phe)
| |
| 5 | g.69419934C>A | CA359923793 | MARVELD2 | c.549C>A (p.Tyr183Ter)
| |
| 5 | g.69419934C>G | CA359923794 | MARVELD2 | c.549C>G (p.Tyr183Ter)
| gnomAD v4 |
| 5 | g.69419934C>T | CA445084017 | MARVELD2 | c.549C>T (p.Tyr183=)
| gnomAD v4 |
| 5 | g.69419935T>A | CA359923795 | MARVELD2 | c.550T>A (p.Ser184Thr)
| |
| 5 | g.69419935T>C | CA359923796 | MARVELD2 | c.550T>C (p.Ser184Pro)
| |
| 5 | g.69419935T>G | CA359923797 | MARVELD2 | c.550T>G (p.Ser184Ala)
| |
| 5 | g.69419936C>A | CA359923799 | MARVELD2 | c.551C>A (p.Ser184Tyr)
| |
| 5 | g.69419936C>G | CA359923800 | MARVELD2 | c.551C>G (p.Ser184Cys)
| |
| 5 | g.69419936C>T | CA359923798 | MARVELD2 | c.551C>T (p.Ser184Phe)
| |
| 5 | g.69419937C>A | CA445084021 | MARVELD2 | c.552C>A (p.Ser184=)
| |
| 5 | g.69419937C>G | CA445084022 | MARVELD2 | c.552C>G (p.Ser184=)
| |
| 5 | g.69419937C>T | CA445084023 | MARVELD2 | c.552C>T (p.Ser184=)
| |
| 5 | g.69419938T>A | CA359923802 | MARVELD2 | c.553T>A (p.Tyr185Asn)
| |
| 5 | g.69419938T>C | CA359923801 | MARVELD2 | c.553T>C (p.Tyr185His)
| dbSNP |
| 5 | g.69419938T>G | CA359923803 | MARVELD2 | c.553T>G (p.Tyr185Asp)
| |
| 5 | g.69419938T= | CA1553916636 | MARVELD2 | c.553T= (p.Tyr185=)
| |
| 5 | g.69419939A= | CA1553916638 | MARVELD2 | c.554A= (p.Tyr185=)
| |
| 5 | g.69419939A>C | CA359923804 | MARVELD2 | c.554A>C (p.Tyr185Ser)
| |
| 5 | g.69419939A>G | CA359923805 | MARVELD2 | c.554A>G (p.Tyr185Cys)
| dbSNP |
| 5 | g.69419939A>T | CA359923806 | MARVELD2 | c.554A>T (p.Tyr185Phe)
| |
| 5 | g.69419940C>A | CA359923807 | MARVELD2 | c.555C>A (p.Tyr185Ter)
| |
| 5 | g.69419940C>G | CA359923808 | MARVELD2 | c.555C>G (p.Tyr185Ter)
| |
| 5 | g.69419940C>T | CA445084033 | MARVELD2 | c.555C>T (p.Tyr185=)
| gnomAD v4 |
| 5 | g.69419941A= | CA1553916642 | MARVELD2 | c.556A= (p.Met186=)
| |
| 5 | g.69419941A>C | CA359923810 | MARVELD2 | c.556A>C (p.Met186Leu)
| dbSNP |
| 5 | g.69419941A>G | CA3294074 | MARVELD2 | c.556A>G (p.Met186Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69419941A>T | CA359923809 | MARVELD2 | c.556A>T (p.Met186Leu)
| |
| 5 | g.69419942T>A | CA359923811 | MARVELD2 | c.557T>A (p.Met186Lys)
| |
| 5 | g.69419942T>C | CA359923812 | MARVELD2 | c.557T>C (p.Met186Thr)
| |
| 5 | g.69419942T>G | CA359923813 | MARVELD2 | c.557T>G (p.Met186Arg)
| |
| 5 | g.69419943G>A | CA359923814 | MARVELD2 | c.558G>A (p.Met186Ile)
| |
| 5 | g.69419943G>C | CA359923815 | MARVELD2 | c.558G>C (p.Met186Ile)
| |
| 5 | g.69419943G>T | CA359923816 | MARVELD2 | c.558G>T (p.Met186Ile)
| |
| 5 | g.69419944A>C | CA359923817 | MARVELD2 | c.559A>C (p.Lys187Gln)
| |
| 5 | g.69419944A>G | CA359923819 | MARVELD2 | c.559A>G (p.Lys187Glu)
| |
| 5 | g.69419944A>T | CA359923818 | MARVELD2 | c.559A>T (p.Lys187Ter)
| |
| 5 | g.69419945A= | CA1553916645 | MARVELD2 | c.560A= (p.Lys187=)
| |
| 5 | g.69419945A>C | CA359923820 | MARVELD2 | c.560A>C (p.Lys187Thr)
| |
| 5 | g.69419945A>G | CA3294075 | MARVELD2 | c.560A>G (p.Lys187Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69419945A>T | CA359923821 | MARVELD2 | c.560A>T (p.Lys187Met)
| |
| 5 | g.69419946G>A | CA445084045 | MARVELD2 | c.561G>A (p.Lys187=)
| gnomAD v4 |
| 5 | g.69419946G>C | CA359923822 | MARVELD2 | c.561G>C (p.Lys187Asn)
| |
| 5 | g.69419946G>T | CA359923823 | MARVELD2 | c.561G>T (p.Lys187Asn)
| |
| 5 | g.69419947T>A | CA359923824 | MARVELD2 | c.562T>A (p.Ser188Thr)
| |
| 5 | g.69419947T>C | CA359923825 | MARVELD2 | c.562T>C (p.Ser188Pro)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69419947T>G | CA359923826 | MARVELD2 | c.562T>G (p.Ser188Ala)
| |
| 5 | g.69419947T= | CA1553916649 | MARVELD2 | c.562T= (p.Ser188=)
| |
| 5 | g.69419948C>A | CA359923827 | MARVELD2 | c.563C>A (p.Ser188Ter)
| |
| 5 | g.69419948C= | CA1553916653 | MARVELD2 | c.563C= (p.Ser188=)
| |
| 5 | g.69419948C>G | CA359923828 | MARVELD2 | c.563C>G (p.Ser188Trp)
| |
| 5 | g.69419948C>T | CA359923829 | MARVELD2 | c.563C>T (p.Ser188Leu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.69419949G>A | CA3294076 | MARVELD2 | c.564G>A (p.Ser188=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69419949G>C | CA445084048 | MARVELD2 | c.564G>C (p.Ser188=)
| |
| 5 | g.69419949G= | CA1553916657 | MARVELD2 | c.564G= (p.Ser188=)
| |
| 5 | g.69419949G>T | CA445084049 | MARVELD2 | c.564G>T (p.Ser188=)
| gnomAD v4 |
| 5 | g.69419950T>A | CA359923832 | MARVELD2 | c.565T>A (p.Trp189Arg)
| |
| 5 | g.69419950T>C | CA359923830 | MARVELD2 | c.565T>C (p.Trp189Arg)
| |
| 5 | g.69419950T>G | CA359923831 | MARVELD2 | c.565T>G (p.Trp189Gly)
| |
| 5 | g.69419951G>A | CA359923833 | MARVELD2 | c.566G>A (p.Trp189Ter)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69419951G>C | CA359923834 | MARVELD2 | c.566G>C (p.Trp189Ser)
| |
| 5 | g.69419951G= | CA1553916661 | MARVELD2 | c.566G= (p.Trp189=)
| |
| 5 | g.69419951G>T | CA359923835 | MARVELD2 | c.566G>T (p.Trp189Leu)
| |
| 5 | g.69419952G>A | CA3294077 | MARVELD2 | c.567G>A (p.Trp189Ter)
| dbSNP ExAC gnomAD v3 gnomAD v4 |
| 5 | g.69419952G>C | CA359923837 | MARVELD2 | c.567G>C (p.Trp189Cys)
| |
| 5 | g.69419952G= | CA1553916665 | MARVELD2 | c.567G= (p.Trp189=)
| |
| 5 | g.69419952G>T | CA359923836 | MARVELD2 | c.567G>T (p.Trp189Cys)
| |
| 5 | g.69419953G>A | CA359923838 | MARVELD2 | c.568G>A (p.Ala190Thr)
| gnomAD v4 |
| 5 | g.69419953G>C | CA359923839 | MARVELD2 | c.568G>C (p.Ala190Pro)
| |
| 5 | g.69419953G>T | CA359923840 | MARVELD2 | c.568G>T (p.Ala190Ser)
| |
| 5 | g.69419954C>A | CA359923841 | MARVELD2 | c.569C>A (p.Ala190Glu)
| |
| 5 | g.69419954C>G | CA359923842 | MARVELD2 | c.569C>G (p.Ala190Gly)
| |
| 5 | g.69419954C>T | CA359923843 | MARVELD2 | c.569C>T (p.Ala190Val)
| |
| 5 | g.69419955A= | CA1553916672 | MARVELD2 | c.570A= (p.Ala190=)
| |
| 5 | g.69419955A>C | CA445083407 | MARVELD2 | c.570A>C (p.Ala190=)
| |
| 5 | g.69419955A>G | CA445083404 | MARVELD2 | c.570A>G (p.Ala190=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419955A>T | CA445083401 | MARVELD2 | c.570A>T (p.Ala190=)
| |
| 5 | g.69419956G>A | CA3294078 | MARVELD2 | c.571G>A (p.Gly191Ser)
| dbSNP ExAC gnomAD v2 |
| 5 | g.69419956G>C | CA359923845 | MARVELD2 | c.571G>C (p.Gly191Arg)
| gnomAD v4 |
| 5 | g.69419956G= | CA1553916678 | MARVELD2 | c.571G= (p.Gly191=)
| |
| 5 | g.69419956G>T | CA359923844 | MARVELD2 | c.571G>T (p.Gly191Cys)
| |
| 5 | g.69419957G>A | CA359923846 | MARVELD2 | c.572G>A (p.Gly191Asp)
| gnomAD v4 |
| 5 | g.69419957G>C | CA359923847 | MARVELD2 | c.572G>C (p.Gly191Ala)
| |
| 5 | g.69419957G= | CA1553916680 | MARVELD2 | c.572G= (p.Gly191=)
| |
| 5 | g.69419957G>T | CA3294079 | MARVELD2 | c.572G>T (p.Gly191Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69419958C>A | CA445083413 | MARVELD2 | c.573C>A (p.Gly191=)
| |
| 5 | g.69419958C= | CA1553916685 | MARVELD2 | c.573C= (p.Gly191=)
| |
| 5 | g.69419958C>G | CA445083412 | MARVELD2 | c.573C>G (p.Gly191=)
| |
| 5 | g.69419958C>T | CA3294080 | MARVELD2 | c.573C>T (p.Gly191=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419959C>A | CA359923848 | MARVELD2 | c.574C>A (p.Leu192Met)
| |
| 5 | g.69419959C>G | CA359923849 | MARVELD2 | c.574C>G (p.Leu192Val)
| |
| 5 | g.69419959C>T | CA445083418 | MARVELD2 | c.574C>T (p.Leu192=)
| |
| 5 | g.69419960T>A | CA359923850 | MARVELD2 | c.575T>A (p.Leu192Gln)
| |
| 5 | g.69419960T>C | CA359923851 | MARVELD2 | c.575T>C (p.Leu192Pro)
| |
| 5 | g.69419960T>G | CA359923852 | MARVELD2 | c.575T>G (p.Leu192Arg)
| |
| 5 | g.69419961G>A | CA445083420 | MARVELD2 | c.576G>A (p.Leu192=)
| |
| 5 | g.69419961G>C | CA445083424 | MARVELD2 | c.576G>C (p.Leu192=)
| |
| 5 | g.69419961G>T | CA445083422 | MARVELD2 | c.576G>T (p.Leu192=)
| |
| 5 | g.69419962C>A | CA359923853 | MARVELD2 | c.577C>A (p.Leu193Met)
| |
| 5 | g.69419962C>G | CA359923854 | MARVELD2 | c.577C>G (p.Leu193Val)
| |
| 5 | g.69419962C>T | CA445083425 | MARVELD2 | c.577C>T (p.Leu193=)
| |
| 5 | g.69419963T>A | CA359923857 | MARVELD2 | c.578T>A (p.Leu193Gln)
| |
| 5 | g.69419963T>C | CA359923856 | MARVELD2 | c.578T>C (p.Leu193Pro)
| |
| 5 | g.69419963T>G | CA359923855 | MARVELD2 | c.578T>G (p.Leu193Arg)
| gnomAD v4 |
| 5 | g.69419964G>A | CA445083432 | MARVELD2 | c.579G>A (p.Leu193=)
| gnomAD v4 |
| 5 | g.69419964G>C | CA445083433 | MARVELD2 | c.579G>C (p.Leu193=)
| |
| 5 | g.69419964G>T | CA445083434 | MARVELD2 | c.579G>T (p.Leu193=)
| |
| 5 | g.69419965A>C | CA445083435 | MARVELD2 | c.580A>C (p.Arg194=)
| |
| 5 | g.69419965A>G | CA359923858 | MARVELD2 | c.580A>G (p.Arg194Gly)
| |
| 5 | g.69419965A>T | CA359923859 | MARVELD2 | c.580A>T (p.Arg194Ter)
| |
| 5 | g.69419966G>A | CA359923860 | MARVELD2 | c.581G>A (p.Arg194Lys)
| |
| 5 | g.69419966G>C | CA359923861 | MARVELD2 | c.581G>C (p.Arg194Thr)
| |
| 5 | g.69419966G>T | CA359923862 | MARVELD2 | c.581G>T (p.Arg194Ile)
| |
| 5 | g.69419967A>C | CA359923863 | MARVELD2 | c.582A>C (p.Arg194Ser)
| |
| 5 | g.69419967A>G | CA445083445 | MARVELD2 | c.582A>G (p.Arg194=)
| |
| 5 | g.69419967A>T | CA359923864 | MARVELD2 | c.582A>T (p.Arg194Ser)
| |
| 5 | g.69419968A>C | CA359923867 | MARVELD2 | c.583A>C (p.Ile195Leu)
| |
| 5 | g.69419968A>G | CA359923865 | MARVELD2 | c.583A>G (p.Ile195Val)
| |
| 5 | g.69419968A>T | CA359923866 | MARVELD2 | c.583A>T (p.Ile195Leu)
| |
| 5 | g.69419969T>A | CA359923868 | MARVELD2 | c.584T>A (p.Ile195Lys)
| |
| 5 | g.69419969T>C | CA359923869 | MARVELD2 | c.584T>C (p.Ile195Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419969T>G | CA359923870 | MARVELD2 | c.584T>G (p.Ile195Arg)
| |
| 5 | g.69419969T= | CA1553916689 | MARVELD2 | c.584T= (p.Ile195=)
| |
| 5 | g.69419969dup | CA2578329378 | MARVELD2 | c.584dup (p.Leu196ThrfsTer25)
| |
| 5 | g.69419970A= | CA1553916694 | MARVELD2 | c.585A= (p.Ile195=)
| |
| 5 | g.69419970A>C | CA119991645 | MARVELD2 | c.585A>C (p.Ile195=)
| dbSNP gnomAD v4 |
| 5 | g.69419970A>G | CA182268 | MARVELD2 | c.585A>G (p.Ile195Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419970A>T | CA445083457 | MARVELD2 | c.585A>T (p.Ile195=)
| |
| 5 | g.69419971C>A | CA359923871 | MARVELD2 | c.586C>A (p.Leu196Met)
| |
| 5 | g.69419971C= | CA1553916703 | MARVELD2 | c.586C= (p.Leu196=)
| |
| 5 | g.69419971C>G | CA359923872 | MARVELD2 | c.586C>G (p.Leu196Val)
| |
| 5 | g.69419971C>T | CA3294081 | MARVELD2 | c.586C>T (p.Leu196=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419972T>A | CA359923873 | MARVELD2 | c.587T>A (p.Leu196Gln)
| |
| 5 | g.69419972T>C | CA359923874 | MARVELD2 | c.587T>C (p.Leu196Pro)
| |
| 5 | g.69419972T>G | CA359923875 | MARVELD2 | c.587T>G (p.Leu196Arg)
| |
| 5 | g.69419973G>A | CA445083470 | MARVELD2 | c.588G>A (p.Leu196=)
| |
| 5 | g.69419973G>C | CA445083472 | MARVELD2 | c.588G>C (p.Leu196=)
| gnomAD v4 |
| 5 | g.69419973G>T | CA445083473 | MARVELD2 | c.588G>T (p.Leu196=)
| |
| 5 | g.69419974G>A | CA359923876 | MARVELD2 | c.589G>A (p.Gly197Ser)
| gnomAD v4 |
| 5 | g.69419974G>C | CA359923877 | MARVELD2 | c.589G>C (p.Gly197Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419974G= | CA1553916708 | MARVELD2 | c.589G= (p.Gly197=)
| |
| 5 | g.69419974G>T | CA359923878 | MARVELD2 | c.589G>T (p.Gly197Cys)
| |
| 5 | g.69419975G>A | CA359923879 | MARVELD2 | c.590G>A (p.Gly197Asp)
| gnomAD v4 |
| 5 | g.69419975G>C | CA359923880 | MARVELD2 | c.590G>C (p.Gly197Ala)
| |
| 5 | g.69419975G>T | CA359923881 | MARVELD2 | c.590G>T (p.Gly197Val)
| COSMIC |
| 5 | g.69419976T>A | CA445083481 | MARVELD2 | c.591T>A (p.Gly197=)
| |
| 5 | g.69419976T>C | CA445083482 | MARVELD2 | c.591T>C (p.Gly197=)
| |
| 5 | g.69419976T>G | CA445083480 | MARVELD2 | c.591T>G (p.Gly197=)
| |
| 5 | g.69419977G>A | CA176716 | MARVELD2 | c.592G>A (p.Val198Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419977G>C | CA359923882 | MARVELD2 | c.592G>C (p.Val198Leu)
| |
| 5 | g.69419977G= | CA1553916713 | MARVELD2 | c.592G= (p.Val198=)
| |
| 5 | g.69419977G>T | CA359923883 | MARVELD2 | c.592G>T (p.Val198Leu)
| |
| 5 | g.69419978T>A | CA359923884 | MARVELD2 | c.593T>A (p.Val198Glu)
| |
| 5 | g.69419978T>C | CA359923886 | MARVELD2 | c.593T>C (p.Val198Ala)
| |
| 5 | g.69419978T>G | CA359923885 | MARVELD2 | c.593T>G (p.Val198Gly)
| |
| 5 | g.69419978_69419979delinsTG | CA1553916718 | MARVELD2 | c.593_594delinsTG (p.Val198=)
| |
| 5 | g.69419979G>A | CA445083490 | MARVELD2 | c.594G>A (p.Val198=)
| |
| 5 | g.69419979G>C | CA445083493 | MARVELD2 | c.594G>C (p.Val198=)
| |
| 5 | g.69419979G>T | CA445083496 | MARVELD2 | c.594G>T (p.Val198=)
| |
| 5 | g.69419980del | CA658657448 | MARVELD2 | c.595del (p.Val199TrpfsTer?)
| ClinVar dbSNP |
| 5 | g.69419980G>A | CA359923887 | MARVELD2 | c.595G>A (p.Val199Met)
| |
| 5 | g.69419980G>C | CA359923888 | MARVELD2 | c.595G>C (p.Val199Leu)
| |
| 5 | g.69419980G>T | CA359923889 | MARVELD2 | c.595G>T (p.Val199Leu)
| |
| 5 | g.69419981T>A | CA359923890 | MARVELD2 | c.596T>A (p.Val199Glu)
| |
| 5 | g.69419981T>C | CA359923891 | MARVELD2 | c.596T>C (p.Val199Ala)
| |
| 5 | g.69419981T>G | CA359923892 | MARVELD2 | c.596T>G (p.Val199Gly)
| |
| 5 | g.69419982G>A | CA119991653 | MARVELD2 | c.597G>A (p.Val199=)
| dbSNP gnomAD v4 |
| 5 | g.69419982G>C | CA445083501 | MARVELD2 | c.597G>C (p.Val199=)
| |
| 5 | g.69419982G= | CA1553916724 | MARVELD2 | c.597G= (p.Val199=)
| |
| 5 | g.69419982G>T | CA445083503 | MARVELD2 | c.597G>T (p.Val199=)
| |
| 5 | g.69419983G>A | CA359923893 | MARVELD2 | c.598G>A (p.Glu200Lys)
| |
| 5 | g.69419983G>C | CA359923894 | MARVELD2 | c.598G>C (p.Glu200Gln)
| |
| 5 | g.69419983G>T | CA359923895 | MARVELD2 | c.598G>T (p.Glu200Ter)
| |
| 5 | g.69419984A= | CA1553916727 | MARVELD2 | c.599A= (p.Glu200=)
| |
| 5 | g.69419984A>C | CA359923896 | MARVELD2 | c.599A>C (p.Glu200Ala)
| |
| 5 | g.69419984A>G | CA359923897 | MARVELD2 | c.599A>G (p.Glu200Gly)
| dbSNP |
| 5 | g.69419984A>T | CA359923898 | MARVELD2 | c.599A>T (p.Glu200Val)
| COSMIC |
| 5 | g.69419985G>A | CA445083513 | MARVELD2 | c.600G>A (p.Glu200=)
| |
| 5 | g.69419985G>C | CA359923900 | MARVELD2 | c.600G>C (p.Glu200Asp)
| |
| 5 | g.69419985G>T | CA359923899 | MARVELD2 | c.600G>T (p.Glu200Asp)
| |
| 5 | g.69419986C>A | CA359923901 | MARVELD2 | c.601C>A (p.Leu201Met)
| |
| 5 | g.69419986C>G | CA359923902 | MARVELD2 | c.601C>G (p.Leu201Val)
| |
| 5 | g.69419986C>T | CA445083523 | MARVELD2 | c.601C>T (p.Leu201=)
| |
| 5 | g.69419987T>A | CA359923903 | MARVELD2 | c.602T>A (p.Leu201Gln)
| |
| 5 | g.69419987T>C | CA359923904 | MARVELD2 | c.602T>C (p.Leu201Pro)
| |
| 5 | g.69419987T>G | CA359923905 | MARVELD2 | c.602T>G (p.Leu201Arg)
| |
| 5 | g.69419988G>A | CA445083528 | MARVELD2 | c.603G>A (p.Leu201=)
| |
| 5 | g.69419988G>C | CA445083531 | MARVELD2 | c.603G>C (p.Leu201=)
| |
| 5 | g.69419988G>T | CA445083532 | MARVELD2 | c.603G>T (p.Leu201=)
| |
| 5 | g.69419989C>A | CA359923906 | MARVELD2 | c.604C>A (p.Leu202Ile)
| |
| 5 | g.69419989C>G | CA359923907 | MARVELD2 | c.604C>G (p.Leu202Val)
| |
| 5 | g.69419989C>T | CA359923908 | MARVELD2 | c.604C>T (p.Leu202Phe)
| gnomAD v4 |
| 5 | g.69419990T>A | CA359923909 | MARVELD2 | c.605T>A (p.Leu202His)
| |
| 5 | g.69419990T>C | CA359923910 | MARVELD2 | c.605T>C (p.Leu202Pro)
| |
| 5 | g.69419990T>G | CA359923911 | MARVELD2 | c.605T>G (p.Leu202Arg)
| |
| 5 | g.69419993dup | CA2499217882 | MARVELD2 | c.608dup (p.Leu203PhefsTer18)
| ClinVar dbSNP |
| 5 | g.69419991T>A | CA445083546 | MARVELD2 | c.606T>A (p.Leu202=)
| |
| 5 | g.69419991T>C | CA445083551 | MARVELD2 | c.606T>C (p.Leu202=)
| |
| 5 | g.69419991T>G | CA445083552 | MARVELD2 | c.606T>G (p.Leu202=)
| |
| 5 | g.69419992T>A | CA359923912 | MARVELD2 | c.607T>A (p.Leu203Met)
| |
| 5 | g.69419992T>C | CA445083555 | MARVELD2 | c.607T>C (p.Leu203=)
| |
| 5 | g.69419992T>G | CA359923913 | MARVELD2 | c.607T>G (p.Leu203Val)
| |
| 5 | g.69419993T>A | CA359923915 | MARVELD2 | c.608T>A (p.Leu203Ter)
| |
| 5 | g.69419993T>C | CA359923916 | MARVELD2 | c.608T>C (p.Leu203Ser)
| |
| 5 | g.69419993T>G | CA359923914 | MARVELD2 | c.608T>G (p.Leu203Trp)
| |
| 5 | g.69419994G>A | CA119991657 | MARVELD2 | c.609G>A (p.Leu203=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419994G>C | CA359923918 | MARVELD2 | c.609G>C (p.Leu203Phe)
| |
| 5 | g.69419994G= | CA1553916730 | MARVELD2 | c.609G= (p.Leu203=)
| |
| 5 | g.69419994G>T | CA359923917 | MARVELD2 | c.609G>T (p.Leu203Phe)
| |
| 5 | g.69419998dup | CA2674131315 | MARVELD2 | c.613dup (p.Ala205GlyfsTer16)
| gnomAD v4 |
| 5 | g.69419998del | CA445083566 | MARVELD2 | c.613del (p.Ala205ProfsTer?)
| COSMIC |
| 5 | g.69419994_69420007delinsGGGGGCCGGTGTCT | CA1553916732 | MARVELD2 | c.609_622delinsGGGGGCCGGTGTCT (p.Leu203=)
| |
| 5 | g.69419995G>A | CA359923919 | MARVELD2 | c.610G>A (p.Gly204Arg)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69419995G>C | CA359923921 | MARVELD2 | c.610G>C (p.Gly204Arg)
| |
| 5 | g.69419995G= | CA1553916738 | MARVELD2 | c.610G= (p.Gly204=)
| |
| 5 | g.69419995G>T | CA359923920 | MARVELD2 | c.610G>T (p.Gly204Trp)
| |
| 5 | g.69419995_69420007del | CA917497883 | MARVELD2 | c.610_622del (p.Gly204LeufsTer?)
| dbSNP gnomAD v4 |
| 5 | g.69419996G>A | CA359923922 | MARVELD2 | c.611G>A (p.Gly204Glu)
| |
| 5 | g.69419996G>C | CA359923924 | MARVELD2 | c.611G>C (p.Gly204Ala)
| gnomAD v4 |
| 5 | g.69419996G>T | CA359923923 | MARVELD2 | c.611G>T (p.Gly204Val)
| gnomAD v4 |
| 5 | g.69419997G>A | CA3294082 | MARVELD2 | c.612G>A (p.Gly204=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419997G>C | CA445083576 | MARVELD2 | c.612G>C (p.Gly204=)
| |
| 5 | g.69419997G= | CA1553916742 | MARVELD2 | c.612G= (p.Gly204=)
| |
| 5 | g.69419997G>T | CA445083573 | MARVELD2 | c.612G>T (p.Gly204=)
| |
| 5 | g.69419998G>A | CA3294083 | MARVELD2 | c.613G>A (p.Ala205Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69419998G>C | CA359923925 | MARVELD2 | c.613G>C (p.Ala205Pro)
| COSMIC |
| 5 | g.69419998G= | CA1553916746 | MARVELD2 | c.613G= (p.Ala205=)
| |
| 5 | g.69419998G>T | CA359923926 | MARVELD2 | c.613G>T (p.Ala205Ser)
| |
| 5 | g.69419999C>A | CA359923927 | MARVELD2 | c.614C>A (p.Ala205Asp)
| |
| 5 | g.69419999C>G | CA359923928 | MARVELD2 | c.614C>G (p.Ala205Gly)
| |
| 5 | g.69419999C>T | CA359923929 | MARVELD2 | c.614C>T (p.Ala205Val)
| |
| 5 | g.69420000C>A | CA445083596 | MARVELD2 | c.615C>A (p.Ala205=)
| |
| 5 | g.69420000C= | CA1553916753 | MARVELD2 | c.615C= (p.Ala205=)
| |
| 5 | g.69420000C>G | CA445083594 | MARVELD2 | c.615C>G (p.Ala205=)
| |
| 5 | g.69420000C>T | CA133017 | MARVELD2 | c.615C>T (p.Ala205=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420001G>A | CA359923930 | MARVELD2 | c.616G>A (p.Gly206Ser)
| dbSNP gnomAD v4 |
| 5 | g.69420001G>C | CA359923931 | MARVELD2 | c.616G>C (p.Gly206Arg)
| |
| 5 | g.69420001G= | CA1553916761 | MARVELD2 | c.616G= (p.Gly206=)
| |
| 5 | g.69420001G>T | CA359923932 | MARVELD2 | c.616G>T (p.Gly206Cys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420002G>A | CA3294084 | MARVELD2 | c.617G>A (p.Gly206Asp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69420002G>C | CA359923933 | MARVELD2 | c.617G>C (p.Gly206Ala)
| |
| 5 | g.69420002G= | CA1553916767 | MARVELD2 | c.617G= (p.Gly206=)
| |
| 5 | g.69420002G>T | CA359923934 | MARVELD2 | c.617G>T (p.Gly206Val)
| |
| 5 | g.69420003T>A | CA445083608 | MARVELD2 | c.618T>A (p.Gly206=)
| |
| 5 | g.69420003T>C | CA445083612 | MARVELD2 | c.618T>C (p.Gly206=)
| |
| 5 | g.69420003T>G | CA445083610 | MARVELD2 | c.618T>G (p.Gly206=)
| |
| 5 | g.69420004G>A | CA359923939 | MARVELD2 | c.619G>A (p.Val207Ile)
| |
| 5 | g.69420004G>C | CA359923936 | MARVELD2 | c.619G>C (p.Val207Leu)
| |
| 5 | g.69420004G>T | CA359923937 | MARVELD2 | c.619G>T (p.Val207Phe)
| |
| 5 | g.69420005T>A | CA359923941 | MARVELD2 | c.620T>A (p.Val207Asp)
| |
| 5 | g.69420005T>C | CA359923943 | MARVELD2 | c.620T>C (p.Val207Ala)
| |
| 5 | g.69420005T>G | CA359923945 | MARVELD2 | c.620T>G (p.Val207Gly)
| |
| 5 | g.69420006C>A | CA445083621 | MARVELD2 | c.621C>A (p.Val207=)
| |
| 5 | g.69420006C= | CA1553916770 | MARVELD2 | c.621C= (p.Val207=)
| |
| 5 | g.69420006C>G | CA445083625 | MARVELD2 | c.621C>G (p.Val207=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420006C>T | CA445083626 | MARVELD2 | c.621C>T (p.Val207=)
| |
| 5 | g.69420007T>A | CA359923947 | MARVELD2 | c.622T>A (p.Phe208Ile)
| |
| 5 | g.69420007T>C | CA359923949 | MARVELD2 | c.622T>C (p.Phe208Leu)
| |
| 5 | g.69420007T>G | CA359923951 | MARVELD2 | c.622T>G (p.Phe208Val)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.69420008T>A | CA359923954 | MARVELD2 | c.623T>A (p.Phe208Tyr)
| |
| 5 | g.69420008T>C | CA359923955 | MARVELD2 | c.623T>C (p.Phe208Ser)
| |
| 5 | g.69420008T>G | CA359923957 | MARVELD2 | c.623T>G (p.Phe208Cys)
| |
| 5 | g.69420011_69420014del | CA2674131316 | MARVELD2 | c.626_629del (p.Ala209ValfsTer?)
| gnomAD v4 |
| 5 | g.69420009T>A | CA359923959 | MARVELD2 | c.624T>A (p.Phe208Leu)
| |
| 5 | g.69420009T>C | CA445083636 | MARVELD2 | c.624T>C (p.Phe208=)
| |
| 5 | g.69420009T>G | CA359923961 | MARVELD2 | c.624T>G (p.Phe208Leu)
| |
| 5 | g.69420010G>A | CA359923967 | MARVELD2 | c.625G>A (p.Ala209Thr)
| gnomAD v4 |
| 5 | g.69420010G>C | CA359923965 | MARVELD2 | c.625G>C (p.Ala209Pro)
| gnomAD v4 |
| 5 | g.69420010G>T | CA359923963 | MARVELD2 | c.625G>T (p.Ala209Ser)
| |
| 5 | g.69420011C>A | CA359923969 | MARVELD2 | c.626C>A (p.Ala209Asp)
| |
| 5 | g.69420011C>G | CA359923971 | MARVELD2 | c.626C>G (p.Ala209Gly)
| |
| 5 | g.69420011C>T | CA359923973 | MARVELD2 | c.626C>T (p.Ala209Val)
| gnomAD v4 |
| 5 | g.69420012T>A | CA445083643 | MARVELD2 | c.627T>A (p.Ala209=)
| |
| 5 | g.69420012T>C | CA445083645 | MARVELD2 | c.627T>C (p.Ala209=)
| |
| 5 | g.69420012T>G | CA445083648 | MARVELD2 | c.627T>G (p.Ala209=)
| |
| 5 | g.69420013T>A | CA359923975 | MARVELD2 | c.628T>A (p.Cys210Ser)
| |
| 5 | g.69420013T>C | CA359923978 | MARVELD2 | c.628T>C (p.Cys210Arg)
| |
| 5 | g.69420013T>G | CA359923979 | MARVELD2 | c.628T>G (p.Cys210Gly)
| |
| 5 | g.69420014G>A | CA3294085 | MARVELD2 | c.629G>A (p.Cys210Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420014G>C | CA359923984 | MARVELD2 | c.629G>C (p.Cys210Ser)
| dbSNP |
| 5 | g.69420014G= | CA1553916774 | MARVELD2 | c.629G= (p.Cys210=)
| |
| 5 | g.69420014G>T | CA359923986 | MARVELD2 | c.629G>T (p.Cys210Phe)
| |
| 5 | g.69420015T>A | CA359923988 | MARVELD2 | c.630T>A (p.Cys210Ter)
| gnomAD v4 |
| 5 | g.69420015T>C | CA445083659 | MARVELD2 | c.630T>C (p.Cys210=)
| |
| 5 | g.69420015T>G | CA359923990 | MARVELD2 | c.630T>G (p.Cys210Trp)
| |
