UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.138762891_138762904del | CA2685129914 | ATP6V0A4 | c.414_417+10del n.663_666+10del | gnomAD v4 |
| 7 | g.138762892G>A | CA4505143 | ATP6V0A4 | c.417+8C>T (n.417+8C>T) n.666+8C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.138762892G= | CA1746790616 | ATP6V0A4 | c.417+8C= (n.417+8C=) n.666+8C= | |
| 7 | g.138762894G>T | CA2685129915 | ATP6V0A4 | c.417+6C>A (n.417+6C>A) n.666+6C>A | gnomAD v4 |
| 7 | g.138762895A>T | CA2685129916 | ATP6V0A4 | c.417+5T>A (n.417+5T>A) n.666+5T>A | gnomAD v4 |
| 7 | g.138762897C>A | CA4505144 | ATP6V0A4 | c.417+3G>T (n.417+3G>T) n.666+3G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.138762897C= | CA1746790617 | ATP6V0A4 | c.417+3G= (n.417+3G=) n.666+3G= | |
| 7 | g.138762898A>C | CA369376675 | ATP6V0A4 | c.417+2T>G (n.417+2T>G) n.666+2T>G | |
| 7 | g.138762898A>G | CA369376676 | ATP6V0A4 | c.417+2T>C (n.417+2T>C) n.666+2T>C | |
| 7 | g.138762898A>T | CA369376677 | ATP6V0A4 | c.417+2T>A (n.417+2T>A) n.666+2T>A | |
| 7 | g.138762899C>A | CA369376678 | ATP6V0A4 | c.417+1G>T (n.417+1G>T) n.666+1G>T | |
| 7 | g.138762899C>G | CA369376679 | ATP6V0A4 | c.417+1G>C (n.417+1G>C) n.666+1G>C | |
| 7 | g.138762899C>T | CA369376680 | ATP6V0A4 | c.417+1G>A (n.417+1G>A) n.666+1G>A | gnomAD v4 |
| 7 | g.138762900C>A | CA369376681 | ATP6V0A4 | c.417G>T (p.Glu139Asp) n.666G>T | |
| 7 | g.138762900C= | CA1746790618 | ATP6V0A4 | c.417G= (p.Glu139=) n.666G= | |
| 7 | g.138762900C>G | CA369376682 | ATP6V0A4 | c.417G>C (p.Glu139Asp) n.666G>C | |
| 7 | g.138762900C>T | CA167130075 | ATP6V0A4 | c.417G>A (p.Glu139=) n.666G>A | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.138762901T>A | CA369376684 | ATP6V0A4 | c.416A>T (p.Glu139Val) n.665A>T | |
| 7 | g.138762901T>C | CA369376685 | ATP6V0A4 | c.416A>G (p.Glu139Gly) n.665A>G | |
| 7 | g.138762901T>G | CA369376683 | ATP6V0A4 | c.416A>C (p.Glu139Ala) n.665A>C | |
| 7 | g.138762902C>A | CA369376688 | ATP6V0A4 | c.415G>T (p.Glu139Ter) n.664G>T | |
| 7 | g.138762902C>G | CA369376686 | ATP6V0A4 | c.415G>C (p.Glu139Gln) n.664G>C | COSMIC |
| 7 | g.138762902C>T | CA369376687 | ATP6V0A4 | c.415G>A (p.Glu139Lys) n.664G>A | |
| 7 | g.138762903A>C | CA369376689 | ATP6V0A4 | c.414T>G (p.Phe138Leu) n.663T>G | |
| 7 | g.138762903A>G | CA457942006 | ATP6V0A4 | c.414T>C (p.Phe138=) n.663T>C | |
| 7 | g.138762903A>T | CA369376690 | ATP6V0A4 | c.414T>A (p.Phe138Leu) n.663T>A | |
| 7 | g.138762904A>C | CA369376691 | ATP6V0A4 | c.413T>G (p.Phe138Cys) n.662T>G | |
| 7 | g.138762904A>G | CA369376692 | ATP6V0A4 | c.413T>C (p.Phe138Ser) n.662T>C | gnomAD v4 |
| 7 | g.138762904A>T | CA369376693 | ATP6V0A4 | c.413T>A (p.Phe138Tyr) n.662T>A | |
| 7 | g.138762905A= | CA1746790619 | ATP6V0A4 | c.412T= (p.Phe138=) n.661T= | |
| 7 | g.138762905A>C | CA369376694 | ATP6V0A4 | c.412T>G (p.Phe138Val) n.661T>G | |
| 7 | g.138762905A>G | CA369376695 | ATP6V0A4 | c.412T>C (p.Phe138Leu) n.661T>C | dbSNP |
| 7 | g.138762905A>T | CA369376696 | ATP6V0A4 | c.412T>A (p.Phe138Ile) n.661T>A | |
| 7 | g.138762906G>A | CA457942011 | ATP6V0A4 | c.411C>T (p.Phe137=) n.660C>T | gnomAD v3 gnomAD v4 |
| 7 | g.138762906G>C | CA369376697 | ATP6V0A4 | c.411C>G (p.Phe137Leu) n.660C>G | |
| 7 | g.138762906G= | CA1746790620 | ATP6V0A4 | c.411C= (p.Phe137=) n.660C= | |
| 7 | g.138762906G>T | CA369376698 | ATP6V0A4 | c.411C>A (p.Phe137Leu) n.660C>A | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.138762907A= | CA1746790621 | ATP6V0A4 | c.410T= (p.Phe137=) n.659T= | |
| 7 | g.138762907A>C | CA369376700 | ATP6V0A4 | c.410T>G (p.Phe137Cys) n.659T>G | |
| 7 | g.138762907A>G | CA369376701 | ATP6V0A4 | c.410T>C (p.Phe137Ser) n.659T>C | dbSNP |
| 7 | g.138762907A>T | CA369376699 | ATP6V0A4 | c.410T>A (p.Phe137Tyr) n.659T>A | |
| 7 | g.138762908A= | CA1746790622 | ATP6V0A4 | c.409T= (p.Phe137=) n.658T= | |
| 7 | g.138762908A>C | CA369376702 | ATP6V0A4 | c.409T>G (p.Phe137Val) n.658T>G | dbSNP |
| 7 | g.138762908A>G | CA369376703 | ATP6V0A4 | c.409T>C (p.Phe137Leu) n.658T>C | |
| 7 | g.138762908A>T | CA369376704 | ATP6V0A4 | c.409T>A (p.Phe137Ile) n.658T>A | |
| 7 | g.138762909G>A | CA457942017 | ATP6V0A4 | c.408C>T (p.Asp136=) n.657C>T | gnomAD v4 |
| 7 | g.138762909G>C | CA369376705 | ATP6V0A4 | c.408C>G (p.Asp136Glu) n.657C>G | |
| 7 | g.138762909G>T | CA369376706 | ATP6V0A4 | c.408C>A (p.Asp136Glu) n.657C>A | |
| 7 | g.138762910T>A | CA369376709 | ATP6V0A4 | c.407A>T (p.Asp136Val) n.656A>T | |
| 7 | g.138762910T>C | CA369376707 | ATP6V0A4 | c.407A>G (p.Asp136Gly) n.656A>G | gnomAD v4 |
| 7 | g.138762910T>G | CA369376708 | ATP6V0A4 | c.407A>C (p.Asp136Ala) n.656A>C | |
| 7 | g.138762911C>A | CA369376710 | ATP6V0A4 | c.406G>T (p.Asp136Tyr) n.655G>T | |
| 7 | g.138762911C>G | CA369376711 | ATP6V0A4 | c.406G>C (p.Asp136His) n.655G>C | |
| 7 | g.138762911C>T | CA369376712 | ATP6V0A4 | c.406G>A (p.Asp136Asn) n.655G>A | |
| 7 | g.138762912T>A | CA369376713 | ATP6V0A4 | c.405A>T (p.Gln135His) n.654A>T | |
| 7 | g.138762912T>C | CA457942021 | ATP6V0A4 | c.405A>G (p.Gln135=) n.654A>G | |
| 7 | g.138762912T>G | CA4505145 | ATP6V0A4 | c.405A>C (p.Gln135His) n.654A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.138762912T= | CA1746790623 | ATP6V0A4 | c.405A= (p.Gln135=) n.654A= | |
| 7 | g.138762913T>A | CA369376716 | ATP6V0A4 | c.404A>T (p.Gln135Leu) n.653A>T | |
| 7 | g.138762913T>C | CA369376715 | ATP6V0A4 | c.404A>G (p.Gln135Arg) n.653A>G | |
| 7 | g.138762913T>G | CA369376714 | ATP6V0A4 | c.404A>C (p.Gln135Pro) n.653A>C | |
| 7 | g.138762914G>A | CA369376717 | ATP6V0A4 | c.403C>T (p.Gln135Ter) n.652C>T | |
| 7 | g.138762914G>C | CA369376718 | ATP6V0A4 | c.403C>G (p.Gln135Glu) n.652C>G | |
| 7 | g.138762914G>T | CA369376719 | ATP6V0A4 | c.403C>A (p.Gln135Lys) n.652C>A | |
| 7 | g.138762915G>A | CA4505146 | ATP6V0A4 | c.402C>T (p.Thr134=) n.651C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.138762915G>C | CA457942024 | ATP6V0A4 | c.402C>G (p.Thr134=) n.651C>G | |
| 7 | g.138762915G= | CA1746790624 | ATP6V0A4 | c.402C= (p.Thr134=) n.651C= | |
| 7 | g.138762915G>T | CA457942025 | ATP6V0A4 | c.402C>A (p.Thr134=) n.651C>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.138762916G>A | CA4505147 | ATP6V0A4 | c.401C>T (p.Thr134Ile) n.650C>T | dbSNP ExAC gnomAD v2 |
| 7 | g.138762916G>C | CA369376720 | ATP6V0A4 | c.401C>G (p.Thr134Ser) n.650C>G | |
| 7 | g.138762916G= | CA1746790625 | ATP6V0A4 | c.401C= (p.Thr134=) n.650C= | |
| 7 | g.138762916G>T | CA369376721 | ATP6V0A4 | c.401C>A (p.Thr134Asn) n.650C>A | |
| 7 | g.138762917T>A | CA369376722 | ATP6V0A4 | c.400A>T (p.Thr134Ser) n.649A>T | |
| 7 | g.138762917T>C | CA369376723 | ATP6V0A4 | c.400A>G (p.Thr134Ala) n.649A>G | |
| 7 | g.138762917T>G | CA369376724 | ATP6V0A4 | c.400A>C (p.Thr134Pro) n.649A>C | |
| 7 | g.138762918T>A | CA369376725 | ATP6V0A4 | c.399A>T (p.Lys133Asn) n.648A>T | |
| 7 | g.138762918T>C | CA457942032 | ATP6V0A4 | c.399A>G (p.Lys133=) n.648A>G | |
| 7 | g.138762918T>G | CA369376726 | ATP6V0A4 | c.399A>C (p.Lys133Asn) n.648A>C | |
| 7 | g.138762919T>A | CA369376728 | ATP6V0A4 | c.398A>T (p.Lys133Ile) n.647A>T | |
| 7 | g.138762919T>C | CA369376729 | ATP6V0A4 | c.398A>G (p.Lys133Arg) n.647A>G | |
| 7 | g.138762919T>G | CA369376727 | ATP6V0A4 | c.398A>C (p.Lys133Thr) n.647A>C | |
| 7 | g.138762920T>A | CA369376730 | ATP6V0A4 | c.397A>T (p.Lys133Ter) n.646A>T | |
| 7 | g.138762920T>C | CA369376731 | ATP6V0A4 | c.397A>G (p.Lys133Glu) n.646A>G | gnomAD v4 |
| 7 | g.138762920T>G | CA369376732 | ATP6V0A4 | c.397A>C (p.Lys133Gln) n.646A>C | |
| 7 | g.138762921C>A | CA369376733 | ATP6V0A4 | c.396G>T (p.Lys132Asn) n.645G>T | |
| 7 | g.138762921C>G | CA369376734 | ATP6V0A4 | c.396G>C (p.Lys132Asn) n.645G>C | |
| 7 | g.138762921C>T | CA457942036 | ATP6V0A4 | c.396G>A (p.Lys132=) n.645G>A | gnomAD v4 |
| 7 | g.138762922T>A | CA369376737 | ATP6V0A4 | c.395A>T (p.Lys132Met) n.644A>T | |
| 7 | g.138762922T>C | CA369376735 | ATP6V0A4 | c.395A>G (p.Lys132Arg) n.644A>G | dbSNP |
| 7 | g.138762922T>G | CA369376736 | ATP6V0A4 | c.395A>C (p.Lys132Thr) n.644A>C | |
| 7 | g.138762922T= | CA1746790626 | ATP6V0A4 | c.395A= (p.Lys132=) n.644A= | |
| 7 | g.138762923T>A | CA369376738 | ATP6V0A4 | c.394A>T (p.Lys132Ter) n.643A>T | |
| 7 | g.138762923T>C | CA369376739 | ATP6V0A4 | c.394A>G (p.Lys132Glu) n.643A>G | |
| 7 | g.138762923T>G | CA369376740 | ATP6V0A4 | c.394A>C (p.Lys132Gln) n.643A>C | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.138762923T= | CA1746790627 | ATP6V0A4 | c.394A= (p.Lys132=) n.643A= | |
| 7 | g.138762924C>A | CA457942037 | ATP6V0A4 | c.393G>T (p.Leu131=) n.642G>T | |
| 7 | g.138762924C= | CA1746790628 | ATP6V0A4 | c.393G= (p.Leu131=) n.642G= | |
| 7 | g.138762924C>G | CA457942038 | ATP6V0A4 | c.393G>C (p.Leu131=) n.642G>C | |
| 7 | g.138762924C>T | CA457942039 | ATP6V0A4 | c.393G>A (p.Leu131=) n.642G>A | dbSNP |
| 7 | g.138762925A>C | CA369376741 | ATP6V0A4 | c.392T>G (p.Leu131Arg) n.641T>G | |
| 7 | g.138762925A>G | CA369376742 | ATP6V0A4 | c.392T>C (p.Leu131Pro) n.641T>C | |
| 7 | g.138762925A>T | CA369376743 | ATP6V0A4 | c.392T>A (p.Leu131Gln) n.641T>A | |
| 7 | g.138762926G>A | CA457942042 | ATP6V0A4 | c.391C>T (p.Leu131=) n.640C>T | |
| 7 | g.138762926G>C | CA369376745 | ATP6V0A4 | c.391C>G (p.Leu131Val) n.640C>G | gnomAD v4 |
| 7 | g.138762926G>T | CA369376744 | ATP6V0A4 | c.391C>A (p.Leu131Met) n.640C>A | |
| 7 | g.138762927G>A | CA457942043 | ATP6V0A4 | c.390C>T (p.Leu130=) n.639C>T | dbSNP gnomAD v4 |
| 7 | g.138762927G>C | CA457942044 | ATP6V0A4 | c.390C>G (p.Leu130=) n.639C>G | gnomAD v4 |
| 7 | g.138762927G= | CA1746790629 | ATP6V0A4 | c.390C= (p.Leu130=) n.639C= | |
| 7 | g.138762927G>T | CA457942045 | ATP6V0A4 | c.390C>A (p.Leu130=) n.639C>A | |
| 7 | g.138762928A>C | CA369376746 | ATP6V0A4 | c.389T>G (p.Leu130Arg) n.638T>G | |
| 7 | g.138762928A>G | CA369376748 | ATP6V0A4 | c.389T>C (p.Leu130Pro) n.638T>C | |
| 7 | g.138762928A>T | CA369376747 | ATP6V0A4 | c.389T>A (p.Leu130His) n.638T>A | |
| 7 | g.138762929G>A | CA369376749 | ATP6V0A4 | c.388C>T (p.Leu130Phe) n.637C>T | |
| 7 | g.138762929G>C | CA4505148 | ATP6V0A4 | c.388C>G (p.Leu130Val) n.637C>G | dbSNP ExAC gnomAD v2 |
| 7 | g.138762929G= | CA1746790630 | ATP6V0A4 | c.388C= (p.Leu130=) n.637C= | |
| 7 | g.138762929G>T | CA369376750 | ATP6V0A4 | c.388C>A (p.Leu130Ile) n.637C>A | gnomAD v4 |
| 7 | g.138762930G>A | CA4505149 | ATP6V0A4 | c.387C>T (p.Tyr129=) n.636C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.138762930G>C | CA369376751 | ATP6V0A4 | c.387C>G (p.Tyr129Ter) n.636C>G | |
| 7 | g.138762930G= | CA1746790631 | ATP6V0A4 | c.387C= (p.Tyr129=) n.636C= | |
| 7 | g.138762930G>T | CA369376752 | ATP6V0A4 | c.387C>A (p.Tyr129Ter) n.636C>A | gnomAD v4 |
| 7 | g.138762931T>A | CA369376755 | ATP6V0A4 | c.386A>T (p.Tyr129Phe) n.635A>T | |
| 7 | g.138762931T>C | CA369376753 | ATP6V0A4 | c.386A>G (p.Tyr129Cys) n.635A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.138762931T>G | CA369376754 | ATP6V0A4 | c.386A>C (p.Tyr129Ser) n.635A>C | |
| 7 | g.138762931T= | CA1746790632 | ATP6V0A4 | c.386A= (p.Tyr129=) n.635A= | |
| 7 | g.138762932A= | CA1746790633 | ATP6V0A4 | c.385T= (p.Tyr129=) n.634T= | |
| 7 | g.138762932A>C | CA369376756 | ATP6V0A4 | c.385T>G (p.Tyr129Asp) n.634T>G | |
| 7 | g.138762932A>G | CA369376757 | ATP6V0A4 | c.385T>C (p.Tyr129His) n.634T>C | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.138762932A>T | CA369376758 | ATP6V0A4 | c.385T>A (p.Tyr129Asn) n.634T>A | |
| 7 | g.138762933T>A | CA369376759 | ATP6V0A4 | c.384A>T (p.Lys128Asn) n.633A>T | |
| 7 | g.138762933T>C | CA457942046 | ATP6V0A4 | c.384A>G (p.Lys128=) n.633A>G | |
| 7 | g.138762933T>G | CA369376760 | ATP6V0A4 | c.384A>C (p.Lys128Asn) n.633A>C | |
| 7 | g.138762934T>A | CA369376763 | ATP6V0A4 | c.383A>T (p.Lys128Ile) n.632A>T | |
| 7 | g.138762934T>C | CA369376761 | ATP6V0A4 | c.383A>G (p.Lys128Arg) n.632A>G | |
| 7 | g.138762934T>G | CA369376762 | ATP6V0A4 | c.383A>C (p.Lys128Thr) n.632A>C | |
| 7 | g.138762935T>A | CA369376764 | ATP6V0A4 | c.382A>T (p.Lys128Ter) n.631A>T | |
| 7 | g.138762935T>C | CA369376765 | ATP6V0A4 | c.382A>G (p.Lys128Glu) n.631A>G | |
| 7 | g.138762935T>G | CA369376766 | ATP6V0A4 | c.382A>C (p.Lys128Gln) n.631A>C | |
| 7 | g.138762943_138762951del | CA645563561 | ATP6V0A4 | c.374_382del (p.Thr125_Leu127del) n.623_631del | gnomAD v4 COSMIC |
| 7 | g.138762936C>A | CA457942047 | ATP6V0A4 | c.381G>T (p.Leu127=) n.630G>T | |
| 7 | g.138762936C>G | CA457942049 | ATP6V0A4 | c.381G>C (p.Leu127=) n.630G>C | |
| 7 | g.138762936C>T | CA457942048 | ATP6V0A4 | c.381G>A (p.Leu127=) n.630G>A | COSMIC |
| 7 | g.138762937A>C | CA369376767 | ATP6V0A4 | c.380T>G (p.Leu127Arg) n.629T>G | |
| 7 | g.138762937A>G | CA369376768 | ATP6V0A4 | c.380T>C (p.Leu127Pro) n.629T>C | |
| 7 | g.138762937A>T | CA369376769 | ATP6V0A4 | c.380T>A (p.Leu127Gln) n.629T>A | gnomAD v4 |
| 7 | g.138762938G>A | CA457942050 | ATP6V0A4 | c.379C>T (p.Leu127=) n.628C>T | ClinVar |
| 7 | g.138762938G>C | CA369376770 | ATP6V0A4 | c.379C>G (p.Leu127Val) n.628C>G | |
| 7 | g.138762938G>T | CA369376771 | ATP6V0A4 | c.379C>A (p.Leu127Met) n.628C>A | |
| 7 | g.138762939T>A | CA369376772 | ATP6V0A4 | c.378A>T (p.Glu126Asp) n.627A>T | |
| 7 | g.138762939T>C | CA457942051 | ATP6V0A4 | c.378A>G (p.Glu126=) n.627A>G | |
| 7 | g.138762939T>G | CA369376773 | ATP6V0A4 | c.378A>C (p.Glu126Asp) n.627A>C | |
| 7 | g.138762940T>A | CA369376774 | ATP6V0A4 | c.377A>T (p.Glu126Val) n.626A>T | |
| 7 | g.138762940T>C | CA369376775 | ATP6V0A4 | c.377A>G (p.Glu126Gly) n.626A>G | |
| 7 | g.138762940T>G | CA369376776 | ATP6V0A4 | c.377A>C (p.Glu126Ala) n.626A>C | |
| 7 | g.138762941C>A | CA369376779 | ATP6V0A4 | c.376G>T (p.Glu126Ter) n.625G>T | |
| 7 | g.138762941C>G | CA369376777 | ATP6V0A4 | c.376G>C (p.Glu126Gln) n.625G>C | |
| 7 | g.138762941C>T | CA369376778 | ATP6V0A4 | c.376G>A (p.Glu126Lys) n.625G>A | |
| 7 | g.138762942T>A | CA457942052 | ATP6V0A4 | c.375A>T (p.Thr125=) n.624A>T | |
| 7 | g.138762942T>C | CA457942053 | ATP6V0A4 | c.375A>G (p.Thr125=) n.624A>G | |
| 7 | g.138762942T>G | CA457942054 | ATP6V0A4 | c.375A>C (p.Thr125=) n.624A>C | gnomAD v4 |
| 7 | g.138762943G>A | CA369376780 | ATP6V0A4 | c.374C>T (p.Thr125Ile) n.623C>T | |
| 7 | g.138762943G>C | CA369376781 | ATP6V0A4 | c.374C>G (p.Thr125Arg) n.623C>G | |
| 7 | g.138762943G>T | CA369376782 | ATP6V0A4 | c.374C>A (p.Thr125Lys) n.623C>A | |
| 7 | g.138762943_138762948delinsGTCAGT | CA1746790634 | ATP6V0A4 | c.369_374delinsACTGAC (p.Glu123=) n.618_623delinsACTGAC | |
| 7 | g.138762944T>A | CA369376783 | ATP6V0A4 | c.373A>T (p.Thr125Ser) n.622A>T | |
| 7 | g.138762944T>C | CA369376784 | ATP6V0A4 | c.373A>G (p.Thr125Ala) n.622A>G | |
| 7 | g.138762944T>G | CA369376785 | ATP6V0A4 | c.373A>C (p.Thr125Pro) n.622A>C | |
| 7 | g.138762946_138762950del | CA915945530 | ATP6V0A4 | c.369_373del (p.Glu123AspfsTer15) n.618_622del | ClinVar dbSNP |
| 7 | g.138762945C>A | CA167130110 | ATP6V0A4 | c.372G>T (p.Leu124=) n.621G>T | dbSNP |
| 7 | g.138762945C= | CA1746790635 | ATP6V0A4 | c.372G= (p.Leu124=) n.621G= | |
| 7 | g.138762945C>G | CA457942055 | ATP6V0A4 | c.372G>C (p.Leu124=) n.621G>C | |
| 7 | g.138762945C>T | CA457942056 | ATP6V0A4 | c.372G>A (p.Leu124=) n.621G>A | |
| 7 | g.138762946A= | CA1746790636 | ATP6V0A4 | c.371T= (p.Leu124=) n.620T= | |
| 7 | g.138762946A>C | CA369376786 | ATP6V0A4 | c.371T>G (p.Leu124Arg) n.620T>G | dbSNP |
| 7 | g.138762946A>G | CA369376787 | ATP6V0A4 | c.371T>C (p.Leu124Pro) n.620T>C | |
| 7 | g.138762946A>T | CA369376788 | ATP6V0A4 | c.371T>A (p.Leu124Gln) n.620T>A | |
| 7 | g.138762947G>A | CA457942057 | ATP6V0A4 | c.370C>T (p.Leu124=) n.619C>T | |
| 7 | g.138762947G>C | CA369376789 | ATP6V0A4 | c.370C>G (p.Leu124Val) n.619C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.138762947G= | CA1746790637 | ATP6V0A4 | c.370C= (p.Leu124=) n.619C= | |
| 7 | g.138762947G>T | CA369376790 | ATP6V0A4 | c.370C>A (p.Leu124Met) n.619C>A | |
| 7 | g.138762948T>A | CA369376791 | ATP6V0A4 | c.369A>T (p.Glu123Asp) n.618A>T | |
| 7 | g.138762948T>C | CA457942058 | ATP6V0A4 | c.369A>G (p.Glu123=) n.618A>G | |
| 7 | g.138762948T>G | CA369376793 | ATP6V0A4 | c.369A>C (p.Glu123Asp) n.618A>C | |
| 7 | g.138762949T>A | CA369376796 | ATP6V0A4 | c.368A>T (p.Glu123Val) n.617A>T | |
| 7 | g.138762949T>C | CA369376795 | ATP6V0A4 | c.368A>G (p.Glu123Gly) n.617A>G | |
| 7 | g.138762949T>G | CA369376794 | ATP6V0A4 | c.368A>C (p.Glu123Ala) n.617A>C | |
| 7 | g.138762950C>A | CA369376797 | ATP6V0A4 | c.367G>T (p.Glu123Ter) n.616G>T | gnomAD v4 |
| 7 | g.138762950C>G | CA369376798 | ATP6V0A4 | c.367G>C (p.Glu123Gln) n.616G>C | |
| 7 | g.138762950C>T | CA369376799 | ATP6V0A4 | c.367G>A (p.Glu123Lys) n.616G>A | COSMIC |
| 7 | g.138762951T>A | CA457942059 | ATP6V0A4 | c.366A>T (p.Leu122=) n.615A>T | |
| 7 | g.138762951T>C | CA457942060 | ATP6V0A4 | c.366A>G (p.Leu122=) n.615A>G | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.138762951T>G | CA457942061 | ATP6V0A4 | c.366A>C (p.Leu122=) n.615A>C | |
| 7 | g.138762951T= | CA1746790638 | ATP6V0A4 | c.366A= (p.Leu122=) n.615A= | |
| 7 | g.138762952A>C | CA369376800 | ATP6V0A4 | c.365T>G (p.Leu122Arg) n.614T>G | |
| 7 | g.138762952A>G | CA369376801 | ATP6V0A4 | c.365T>C (p.Leu122Pro) n.614T>C | |
| 7 | g.138762952A>T | CA369376802 | ATP6V0A4 | c.365T>A (p.Leu122Gln) n.614T>A | |
| 7 | g.138762953G>A | CA457942062 | ATP6V0A4 | c.364C>T (p.Leu122=) n.613C>T | |
| 7 | g.138762953G>C | CA369376803 | ATP6V0A4 | c.364C>G (p.Leu122Val) n.613C>G | |
| 7 | g.138762953G>T | CA369376804 | ATP6V0A4 | c.364C>A (p.Leu122Ile) n.613C>A | |
| 7 | g.138762954G>A | CA457942063 | ATP6V0A4 | c.363C>T (p.Phe121=) n.612C>T | |
| 7 | g.138762954G>C | CA369376805 | ATP6V0A4 | c.363C>G (p.Phe121Leu) n.612C>G | |
| 7 | g.138762954G>T | CA369376806 | ATP6V0A4 | c.363C>A (p.Phe121Leu) n.612C>A | |
| 7 | g.138762955A>C | CA369376807 | ATP6V0A4 | c.362T>G (p.Phe121Cys) n.611T>G | |
| 7 | g.138762955A>G | CA369376808 | ATP6V0A4 | c.362T>C (p.Phe121Ser) n.611T>C | |
| 7 | g.138762955A>T | CA369376809 | ATP6V0A4 | c.362T>A (p.Phe121Tyr) n.611T>A | |
| 7 | g.138762956A>C | CA369376812 | ATP6V0A4 | c.361T>G (p.Phe121Val) n.610T>G | |
| 7 | g.138762956A>G | CA369376811 | ATP6V0A4 | c.361T>C (p.Phe121Leu) n.610T>C | |
| 7 | g.138762956A>T | CA369376810 | ATP6V0A4 | c.361T>A (p.Phe121Ile) n.610T>A | |
| 7 | g.138762957G>A | CA457942064 | ATP6V0A4 | c.360C>T (p.Ser120=) n.609C>T | gnomAD v4 |
| 7 | g.138762957G>C | CA369376813 | ATP6V0A4 | c.360C>G (p.Ser120Arg) n.609C>G | |
| 7 | g.138762957G>T | CA369376814 | ATP6V0A4 | c.360C>A (p.Ser120Arg) n.609C>A | |
| 7 | g.138762958C>A | CA369376815 | ATP6V0A4 | c.359G>T (p.Ser120Ile) n.608G>T | |
| 7 | g.138762958C= | CA1746790639 | ATP6V0A4 | c.359G= (p.Ser120=) n.608G= | |
| 7 | g.138762958C>G | CA369376816 | ATP6V0A4 | c.359G>C (p.Ser120Thr) n.608G>C | |
| 7 | g.138762958C>T | CA369376817 | ATP6V0A4 | c.359G>A (p.Ser120Asn) n.608G>A | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.138762959T>A | CA369376818 | ATP6V0A4 | c.358A>T (p.Ser120Cys) n.607A>T | |
| 7 | g.138762959T>C | CA369376819 | ATP6V0A4 | c.358A>G (p.Ser120Gly) n.607A>G | |
| 7 | g.138762959T>G | CA369376820 | ATP6V0A4 | c.358A>C (p.Ser120Arg) n.607A>C | |
| 7 | g.138762960T>A | CA369376821 | ATP6V0A4 | c.357A>T (p.Gln119His) n.606A>T | |
| 7 | g.138762960T>C | CA457942065 | ATP6V0A4 | c.357A>G (p.Gln119=) n.606A>G | |
| 7 | g.138762960T>G | CA369376822 | ATP6V0A4 | c.357A>C (p.Gln119His) n.606A>C | |
| 7 | g.138762961T>A | CA369376823 | ATP6V0A4 | c.356A>T (p.Gln119Leu) n.605A>T | |
| 7 | g.138762961T>C | CA369376824 | ATP6V0A4 | c.356A>G (p.Gln119Arg) n.605A>G | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.138762961T>G | CA369376825 | ATP6V0A4 | c.356A>C (p.Gln119Pro) n.605A>C | |
| 7 | g.138762961T= | CA1746790640 | ATP6V0A4 | c.356A= (p.Gln119=) n.605A= | |
| 7 | g.138762962G>A | CA369376828 | ATP6V0A4 | c.355C>T (p.Gln119Ter) n.604C>T | gnomAD v4 |
| 7 | g.138762962G>C | CA369376827 | ATP6V0A4 | c.355C>G (p.Gln119Glu) n.604C>G | |
| 7 | g.138762962G>T | CA369376826 | ATP6V0A4 | c.355C>A (p.Gln119Lys) n.604C>A | |
| 7 | g.138762963T>A | CA369376829 | ATP6V0A4 | c.354A>T (p.Lys118Asn) n.603A>T | |
| 7 | g.138762963T>C | CA457942066 | ATP6V0A4 | c.354A>G (p.Lys118=) n.603A>G | |
| 7 | g.138762963T>G | CA369376830 | ATP6V0A4 | c.354A>C (p.Lys118Asn) n.603A>C | |
| 7 | g.138762964T>A | CA369376831 | ATP6V0A4 | c.353A>T (p.Lys118Ile) n.602A>T | |
| 7 | g.138762964T>C | CA369376832 | ATP6V0A4 | c.353A>G (p.Lys118Arg) n.602A>G | |
| 7 | g.138762964T>G | CA369376833 | ATP6V0A4 | c.353A>C (p.Lys118Thr) n.602A>C | |
| 7 | g.138762965T>A | CA369376834 | ATP6V0A4 | c.352A>T (p.Lys118Ter) n.601A>T | |
| 7 | g.138762965T>C | CA369376835 | ATP6V0A4 | c.352A>G (p.Lys118Glu) n.601A>G | |
| 7 | g.138762965T>G | CA4505150 | ATP6V0A4 | c.352A>C (p.Lys118Gln) n.601A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.138762965T= | CA1746790641 | ATP6V0A4 | c.352A= (p.Lys118=) n.601A= | |
| 7 | g.138762966C>A | CA369376836 | ATP6V0A4 | c.351G>T (p.Leu117Phe) n.600G>T | gnomAD v4 |
| 7 | g.138762966C= | CA1746790642 | ATP6V0A4 | c.351G= (p.Leu117=) n.600G= | |
| 7 | g.138762966C>G | CA369376837 | ATP6V0A4 | c.351G>C (p.Leu117Phe) n.600G>C | COSMIC |
| 7 | g.138762966C>T | CA457942067 | ATP6V0A4 | c.351G>A (p.Leu117=) n.600G>A | dbSNP |
| 7 | g.138762967A>C | CA369376838 | ATP6V0A4 | c.350T>G (p.Leu117Trp) n.599T>G | |
| 7 | g.138762967A>G | CA369376839 | ATP6V0A4 | c.350T>C (p.Leu117Ser) n.599T>C | |
| 7 | g.138762967A>T | CA369376840 | ATP6V0A4 | c.350T>A (p.Leu117Ter) n.599T>A | |
| 7 | g.138762968A>C | CA369376842 | ATP6V0A4 | c.349T>G (p.Leu117Val) n.598T>G | |
| 7 | g.138762968A>G | CA457942068 | ATP6V0A4 | c.349T>C (p.Leu117=) n.598T>C | |
| 7 | g.138762968A>T | CA369376841 | ATP6V0A4 | c.349T>A (p.Leu117Met) n.598T>A | |
| 7 | g.138762969G>A | CA457942069 | ATP6V0A4 | c.348C>T (p.Ala116=) n.597C>T | gnomAD v4 |
| 7 | g.138762969G>C | CA457942070 | ATP6V0A4 | c.348C>G (p.Ala116=) n.597C>G | |
| 7 | g.138762969G>T | CA457942071 | ATP6V0A4 | c.348C>A (p.Ala116=) n.597C>A | |
| 7 | g.138762970G>A | CA369376843 | ATP6V0A4 | c.347C>T (p.Ala116Val) n.596C>T | gnomAD v4 |
| 7 | g.138762970G>C | CA4505151 | ATP6V0A4 | c.347C>G (p.Ala116Gly) n.596C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.138762970G= | CA1746790643 | ATP6V0A4 | c.347C= (p.Ala116=) n.596C= | |
| 7 | g.138762970G>T | CA369376844 | ATP6V0A4 | c.347C>A (p.Ala116Asp) n.596C>A | |
| 7 | g.138762971C>A | CA369376845 | ATP6V0A4 | c.346G>T (p.Ala116Ser) n.595G>T | |
| 7 | g.138762971C= | CA1746790644 | ATP6V0A4 | c.346G= (p.Ala116=) n.595G= | |
| 7 | g.138762971C>G | CA369376846 | ATP6V0A4 | c.346G>C (p.Ala116Pro) n.595G>C | gnomAD v4 |
| 7 | g.138762971C>T | CA369376847 | ATP6V0A4 | c.346G>A (p.Ala116Thr) n.595G>A | dbSNP gnomAD v4 COSMIC |
| 7 | g.138762972del | CA2685129917 | ATP6V0A4 | c.346del (p.Ala116ProfsTer2) n.595del | gnomAD v4 |
| 7 | g.138762972C>A | CA369376848 | ATP6V0A4 | c.345G>T (p.Gln115His) n.594G>T | |
| 7 | g.138762972C= | CA1746790645 | ATP6V0A4 | c.345G= (p.Gln115=) n.594G= | |
| 7 | g.138762972C>G | CA369376849 | ATP6V0A4 | c.345G>C (p.Gln115His) n.594G>C | |
| 7 | g.138762972C>T | CA4505152 | ATP6V0A4 | c.345G>A (p.Gln115=) n.594G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.138762973T>A | CA4505153 | ATP6V0A4 | c.344A>T (p.Gln115Leu) n.593A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.138762973T>C | CA369376850 | ATP6V0A4 | c.344A>G (p.Gln115Arg) n.593A>G | |
| 7 | g.138762973T>G | CA369376851 | ATP6V0A4 | c.344A>C (p.Gln115Pro) n.593A>C | |
| 7 | g.138762973T= | CA1746790646 | ATP6V0A4 | c.344A= (p.Gln115=) n.593A= | |
| 7 | g.138762974G>A | CA369376852 | ATP6V0A4 | c.343C>T (p.Gln115Ter) n.592C>T | |
| 7 | g.138762974G>C | CA369376853 | ATP6V0A4 | c.343C>G (p.Gln115Glu) n.592C>G | dbSNP gnomAD v4 |
| 7 | g.138762974G= | CA1746790647 | ATP6V0A4 | c.343C= (p.Gln115=) n.592C= | |
| 7 | g.138762974G>T | CA369376854 | ATP6V0A4 | c.343C>A (p.Gln115Lys) n.592C>A | |
| 7 | g.138762975C>A | CA369376855 | ATP6V0A4 | c.342G>T (p.Gln114His) n.591G>T | dbSNP |
| 7 | g.138762975C>G | CA369376856 | ATP6V0A4 | c.342G>C (p.Gln114His) n.591G>C | |
| 7 | g.138762975C>T | CA457942072 | ATP6V0A4 | c.342G>A (p.Gln114=) n.591G>A | |
| 7 | g.138762976T>A | CA369376857 | ATP6V0A4 | c.341A>T (p.Gln114Leu) n.590A>T | |
| 7 | g.138762976T>C | CA369376858 | ATP6V0A4 | c.341A>G (p.Gln114Arg) n.590A>G | dbSNP |
| 7 | g.138762976T>G | CA369376859 | ATP6V0A4 | c.341A>C (p.Gln114Pro) n.590A>C | |
| 7 | g.138762976T= | CA1746790648 | ATP6V0A4 | c.341A= (p.Gln114=) n.590A= | |
| 7 | g.138762977G>A | CA369376860 | ATP6V0A4 | c.340C>T (p.Gln114Ter) n.589C>T | |
| 7 | g.138762977G>C | CA369376861 | ATP6V0A4 | c.340C>G (p.Gln114Glu) n.589C>G | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.138762977G= | CA1746790649 | ATP6V0A4 | c.340C= (p.Gln114=) n.589C= | |
| 7 | g.138762977G>T | CA369376862 | ATP6V0A4 | c.340C>A (p.Gln114Lys) n.589C>A | |
| 7 | g.138762978G>A | CA4505154 | ATP6V0A4 | c.339C>T (p.Asn113=) n.588C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.138762978G>C | CA369376863 | ATP6V0A4 | c.339C>G (p.Asn113Lys) n.588C>G | |
| 7 | g.138762978G= | CA1746790650 | ATP6V0A4 | c.339C= (p.Asn113=) n.588C= | |
| 7 | g.138762978G>T | CA369376864 | ATP6V0A4 | c.339C>A (p.Asn113Lys) n.588C>A | |
| 7 | g.138762979T>A | CA369376865 | ATP6V0A4 | c.338A>T (p.Asn113Ile) n.587A>T | |
| 7 | g.138762979T>C | CA369376866 | ATP6V0A4 | c.338A>G (p.Asn113Ser) n.587A>G | |
| 7 | g.138762979T>G | CA369376867 | ATP6V0A4 | c.338A>C (p.Asn113Thr) n.587A>C | |
| 7 | g.138762980del | CA658820830 | ATP6V0A4 | c.338del (p.Asn113ThrfsTer5) n.587del | ClinVar |
| 7 | g.138762980T>A | CA369376868 | ATP6V0A4 | c.337A>T (p.Asn113Tyr) n.586A>T | |
| 7 | g.138762980T>C | CA369376870 | ATP6V0A4 | c.337A>G (p.Asn113Asp) n.586A>G | |
| 7 | g.138762980T>G | CA369376869 | ATP6V0A4 | c.337A>C (p.Asn113His) n.586A>C | |
| 7 | g.138762981C>A | CA369376871 | ATP6V0A4 | c.336G>T (p.Gln112His) n.585G>T | |
| 7 | g.138762981C>G | CA369376872 | ATP6V0A4 | c.336G>C (p.Gln112His) n.585G>C | |
| 7 | g.138762981C>T | CA457942073 | ATP6V0A4 | c.336G>A (p.Gln112=) n.585G>A | |
| 7 | g.138762982T>A | CA369376873 | ATP6V0A4 | c.335A>T (p.Gln112Leu) n.584A>T | |
| 7 | g.138762982T>C | CA369376875 | ATP6V0A4 | c.335A>G (p.Gln112Arg) n.584A>G | |
| 7 | g.138762982T>G | CA369376874 | ATP6V0A4 | c.335A>C (p.Gln112Pro) n.584A>C | |
| 7 | g.138762983G>A | CA4505156 | ATP6V0A4 | c.334C>T (p.Gln112Ter) n.583C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.138762983G>C | CA4505155 | ATP6V0A4 | c.334C>G (p.Gln112Glu) n.583C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.138762983G= | CA1746790651 | ATP6V0A4 | c.334C= (p.Gln112=) n.583C= | |
| 7 | g.138762983G>T | CA369376876 | ATP6V0A4 | c.334C>A (p.Gln112Lys) n.583C>A | |
| 7 | g.138762984G>A | CA457942074 | ATP6V0A4 | c.333C>T (p.Asn111=) n.582C>T | gnomAD v4 |
| 7 | g.138762984G>C | CA369376877 | ATP6V0A4 | c.333C>G (p.Asn111Lys) n.582C>G | |
| 7 | g.138762984G>T | CA369376878 | ATP6V0A4 | c.333C>A (p.Asn111Lys) n.582C>A | |
| 7 | g.138762985T>A | CA369376879 | ATP6V0A4 | c.332A>T (p.Asn111Ile) n.581A>T | |
| 7 | g.138762985T>C | CA369376880 | ATP6V0A4 | c.332A>G (p.Asn111Ser) n.581A>G | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.138762985T>G | CA369376881 | ATP6V0A4 | c.332A>C (p.Asn111Thr) n.581A>C | |
| 7 | g.138762985T= | CA1746790652 | ATP6V0A4 | c.332A= (p.Asn111=) n.581A= | |
| 7 | g.138762986T>A | CA369376882 | ATP6V0A4 | c.331A>T (p.Asn111Tyr) n.580A>T | |
| 7 | g.138762986T>C | CA369376883 | ATP6V0A4 | c.331A>G (p.Asn111Asp) n.580A>G | |
| 7 | g.138762986T>G | CA369376884 | ATP6V0A4 | c.331A>C (p.Asn111His) n.580A>C | |
| 7 | g.138762987G>A | CA4505157 | ATP6V0A4 | c.330C>T (p.Ala110=) n.579C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.138762987G>C | CA457942078 | ATP6V0A4 | c.330C>G (p.Ala110=) n.579C>G | |
| 7 | g.138762987G= | CA1746790653 | ATP6V0A4 | c.330C= (p.Ala110=) n.579C= | |
| 7 | g.138762987G>T | CA457942079 | ATP6V0A4 | c.330C>A (p.Ala110=) n.579C>A | |
| 7 | g.138762988G>A | CA369376887 | ATP6V0A4 | c.329C>T (p.Ala110Val) n.578C>T | |
| 7 | g.138762988G>C | CA369376885 | ATP6V0A4 | c.329C>G (p.Ala110Gly) n.578C>G | |
| 7 | g.138762988G>T | CA369376886 | ATP6V0A4 | c.329C>A (p.Ala110Asp) n.578C>A | |
| 7 | g.138762989C>A | CA369376888 | ATP6V0A4 | c.328G>T (p.Ala110Ser) n.577G>T | |
| 7 | g.138762989C>G | CA369376889 | ATP6V0A4 | c.328G>C (p.Ala110Pro) n.577G>C | |
| 7 | g.138762989C>T | CA369376890 | ATP6V0A4 | c.328G>A (p.Ala110Thr) n.577G>A | gnomAD v4 |
| 7 | g.138762990T>A | CA369376891 | ATP6V0A4 | c.327A>T (p.Glu109Asp) n.576A>T | |
| 7 | g.138762990T>C | CA457942083 | ATP6V0A4 | c.327A>G (p.Glu109=) n.576A>G | |
| 7 | g.138762990T>G | CA369376892 | ATP6V0A4 | c.327A>C (p.Glu109Asp) n.576A>C | |
| 7 | g.138762991T>A | CA369376894 | ATP6V0A4 | c.326A>T (p.Glu109Val) n.575A>T | |
| 7 | g.138762991T>C | CA369376896 | ATP6V0A4 | c.326A>G (p.Glu109Gly) n.575A>G | |
| 7 | g.138762991T>G | CA369376898 | ATP6V0A4 | c.326A>C (p.Glu109Ala) n.575A>C | |
| 7 | g.138762992C>A | CA369376902 | ATP6V0A4 | c.325G>T (p.Glu109Ter) n.574G>T | |
| 7 | g.138762992C>G | CA369376906 | ATP6V0A4 | c.325G>C (p.Glu109Gln) n.574G>C | |
| 7 | g.138762992C>T | CA369376908 | ATP6V0A4 | c.325G>A (p.Glu109Lys) n.574G>A | gnomAD v4 COSMIC |