| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.138762943_138762951del | CA645563561 | ATP6V0A4 | c.374_382del (p.Thr125_Leu127del) n.623_631del | gnomAD v4 COSMIC |
| 7 | g.138762943_138762948delinsGTCAGT | CA1746790634 | ATP6V0A4 | c.369_374delinsACTGAC (p.Glu123=) n.618_623delinsACTGAC | |
| 7 | g.138762946_138762950del | CA915945530 | ATP6V0A4 | c.369_373del (p.Glu123AspfsTer15) n.618_622del | ClinVar dbSNP |
| 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 | ClinVar 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 |
| 7 | g.138762993C>A | CA369377460 | ATP6V0A4 | c.324G>T (p.Gln108His) n.573G>T | |
| 7 | g.138762993C>G | CA369377463 | ATP6V0A4 | c.324G>C (p.Gln108His) n.573G>C | |
| 7 | g.138762993C>T | CA457942185 | ATP6V0A4 | c.324G>A (p.Gln108=) n.573G>A | |
| 7 | g.138762994T>A | CA369377467 | ATP6V0A4 | c.323A>T (p.Gln108Leu) n.572A>T | |
| 7 | g.138762994T>C | CA369377470 | ATP6V0A4 | c.323A>G (p.Gln108Arg) n.572A>G | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.138762994T>G | CA369377473 | ATP6V0A4 | c.323A>C (p.Gln108Pro) n.572A>C | |
| 7 | g.138762994T= | CA1746790654 | ATP6V0A4 | c.323A= (p.Gln108=) n.572A= | |
| 7 | g.138762995G>A | CA369377477 | ATP6V0A4 | c.322C>T (p.Gln108Ter) n.571C>T | gnomAD v4 |
| 7 | g.138762995G>C | CA369377480 | ATP6V0A4 | c.322C>G (p.Gln108Glu) n.571C>G | |
| 7 | g.138762995G>T | CA369377483 | ATP6V0A4 | c.322C>A (p.Gln108Lys) n.571C>A | |
| 7 | g.138762996T>A | CA369377486 | ATP6V0A4 | c.321A>T (p.Leu107Phe) n.570A>T | |
| 7 | g.138762996T>C | CA457942186 | ATP6V0A4 | c.321A>G (p.Leu107=) n.570A>G | |
| 7 | g.138762996T>G | CA369377488 | ATP6V0A4 | c.321A>C (p.Leu107Phe) n.570A>C | |
| 7 | g.138762997A>C | CA369377491 | ATP6V0A4 | c.320T>G (p.Leu107Ter) n.569T>G | |
| 7 | g.138762997A>G | CA369377492 | ATP6V0A4 | c.320T>C (p.Leu107Ser) n.569T>C | gnomAD v4 |
| 7 | g.138762997A>T | CA369377495 | ATP6V0A4 | c.320T>A (p.Leu107Ter) n.569T>A | |
| 7 | g.138762998A>C | CA369377498 | ATP6V0A4 | c.319T>G (p.Leu107Val) n.568T>G | |
| 7 | g.138762998A>G | CA457942187 | ATP6V0A4 | c.319T>C (p.Leu107=) n.568T>C | |
| 7 | g.138762998A>T | CA369377500 | ATP6V0A4 | c.319T>A (p.Leu107Ile) n.568T>A | |
| 7 | g.138762999C>A | CA369377504 | ATP6V0A4 | c.318G>T (p.Glu106Asp) n.567G>T | |
| 7 | g.138762999C>G | CA369377507 | ATP6V0A4 | c.318G>C (p.Glu106Asp) n.567G>C | gnomAD v4 |
| 7 | g.138762999C>T | CA457942188 | ATP6V0A4 | c.318G>A (p.Glu106=) n.567G>A | gnomAD v4 |
| 7 | g.138763000T>A | CA369377513 | ATP6V0A4 | c.317A>T (p.Glu106Val) n.566A>T | |
| 7 | g.138763000T>C | CA369377516 | ATP6V0A4 | c.317A>G (p.Glu106Gly) n.566A>G | dbSNP |
| 7 | g.138763000T>G | CA369377519 | ATP6V0A4 | c.317A>C (p.Glu106Ala) n.566A>C | |
| 7 | g.138763000T= | CA1746790655 | ATP6V0A4 | c.317A= (p.Glu106=) n.566A= | |
| 7 | g.138763001C>A | CA369377521 | ATP6V0A4 | c.316G>T (p.Glu106Ter) n.565G>T | |
| 7 | g.138763001C>G | CA369377523 | ATP6V0A4 | c.316G>C (p.Glu106Gln) n.565G>C | |
| 7 | g.138763001C>T | CA369377527 | ATP6V0A4 | c.316G>A (p.Glu106Lys) n.565G>A | |
| 7 | g.138763002T>A | CA457942189 | ATP6V0A4 | c.315A>T (p.Gly105=) n.564A>T | |
| 7 | g.138763002T>C | CA457942191 | ATP6V0A4 | c.315A>G (p.Gly105=) n.564A>G | |
| 7 | g.138763002T>G | CA457942190 | ATP6V0A4 | c.315A>C (p.Gly105=) n.564A>C | |
| 7 | g.138763003C>A | CA369377528 | ATP6V0A4 | c.314G>T (p.Gly105Val) n.563G>T | |
| 7 | g.138763003C= | CA1746790656 | ATP6V0A4 | c.314G= (p.Gly105=) n.563G= | |
| 7 | g.138763003C>G | CA4505158 | ATP6V0A4 | c.314G>C (p.Gly105Ala) n.563G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.138763003C>T | CA369377534 | ATP6V0A4 | c.314G>A (p.Gly105Glu) n.563G>A | |
| 7 | g.138763004C>A | CA369377537 | ATP6V0A4 | c.313G>T (p.Gly105Ter) n.562G>T | |
| 7 | g.138763004C>G | CA369377539 | ATP6V0A4 | c.313G>C (p.Gly105Arg) n.562G>C | |
| 7 | g.138763004C>T | CA369377542 | ATP6V0A4 | c.313G>A (p.Gly105Arg) n.562G>A | |
| 7 | g.138763005T>A | CA369377546 | ATP6V0A4 | c.312A>T (p.Glu104Asp) n.561A>T | |
| 7 | g.138763005T>C | CA457942192 | ATP6V0A4 | c.312A>G (p.Glu104=) n.561A>G | |
| 7 | g.138763005T>G | CA369377544 | ATP6V0A4 | c.312A>C (p.Glu104Asp) n.561A>C | gnomAD v4 |
| 7 | g.138763006T>A | CA369377549 | ATP6V0A4 | c.311A>T (p.Glu104Val) n.560A>T | |
| 7 | g.138763006T>C | CA369377552 | ATP6V0A4 | c.311A>G (p.Glu104Gly) n.560A>G | |
| 7 | g.138763006T>G | CA369377553 | ATP6V0A4 | c.311A>C (p.Glu104Ala) n.560A>C | |
| 7 | g.138763007C>A | CA369377556 | ATP6V0A4 | c.310G>T (p.Glu104Ter) n.559G>T | |
| 7 | g.138763007C>G | CA369377558 | ATP6V0A4 | c.310G>C (p.Glu104Gln) n.559G>C | |
| 7 | g.138763007C>T | CA369377562 | ATP6V0A4 | c.310G>A (p.Glu104Lys) n.559G>A | |
| 7 | g.138763008C>A | CA457942193 | ATP6V0A4 | c.309G>T (p.Leu103=) n.558G>T | |
| 7 | g.138763008C>G | CA457942194 | ATP6V0A4 | c.309G>C (p.Leu103=) n.558G>C | |
| 7 | g.138763008C>T | CA457942195 | ATP6V0A4 | c.309G>A (p.Leu103=) n.558G>A | COSMIC |
| 7 | g.138763009A>C | CA369377566 | ATP6V0A4 | c.308T>G (p.Leu103Arg) n.557T>G | gnomAD v4 |
| 7 | g.138763009A>G | CA369377568 | ATP6V0A4 | c.308T>C (p.Leu103Pro) n.557T>C | |
| 7 | g.138763009A>T | CA369377571 | ATP6V0A4 | c.308T>A (p.Leu103Gln) n.557T>A | |
| 7 | g.138763010G>A | CA457942196 | ATP6V0A4 | c.307C>T (p.Leu103=) n.556C>T | |
| 7 | g.138763010G>C | CA369377573 | ATP6V0A4 | c.307C>G (p.Leu103Val) n.556C>G | |
| 7 | g.138763010G>T | CA369377575 | ATP6V0A4 | c.307C>A (p.Leu103Met) n.556C>A | |
| 7 | g.138763011T>A | CA369377578 | ATP6V0A4 | c.306A>T (p.Lys102Asn) n.555A>T | |
| 7 | g.138763011T>C | CA457942197 | ATP6V0A4 | c.306A>G (p.Lys102=) n.555A>G | |
| 7 | g.138763011T>G | CA369377580 | ATP6V0A4 | c.306A>C (p.Lys102Asn) n.555A>C | |
| 7 | g.138763015dup | CA2685129918 | ATP6V0A4 | c.306dup (p.Leu103ThrfsTer?) n.555dup | gnomAD v4 |
| 7 | g.138763012T>A | CA369377589 | ATP6V0A4 | c.305A>T (p.Lys102Ile) n.554A>T | |
| 7 | g.138763012T>C | CA369377586 | ATP6V0A4 | c.305A>G (p.Lys102Arg) n.554A>G | |
| 7 | g.138763012T>G | CA369377583 | ATP6V0A4 | c.305A>C (p.Lys102Thr) n.554A>C | |
| 7 | g.138763013T>A | CA369377593 | ATP6V0A4 | c.304A>T (p.Lys102Ter) n.553A>T | |
| 7 | g.138763013T>C | CA167130147 | ATP6V0A4 | c.304A>G (p.Lys102Glu) n.553A>G | dbSNP gnomAD v4 |
| 7 | g.138763013T>G | CA369377598 | ATP6V0A4 | c.304A>C (p.Lys102Gln) n.553A>C | |
| 7 | g.138763013T= | CA1746790657 | ATP6V0A4 | c.304A= (p.Lys102=) n.553A= | |
| 7 | g.138763014T>A | CA369377601 | ATP6V0A4 | c.303A>T (p.Glu101Asp) n.552A>T | |
| 7 | g.138763014T>C | CA457942198 | ATP6V0A4 | c.303A>G (p.Glu101=) n.552A>G | |
| 7 | g.138763014T>G | CA369377604 | ATP6V0A4 | c.303A>C (p.Glu101Asp) n.552A>C | |
| 7 | g.138763015T>A | CA369377608 | ATP6V0A4 | c.302A>T (p.Glu101Val) n.551A>T | |
| 7 | g.138763015T>C | CA369377610 | ATP6V0A4 | c.302A>G (p.Glu101Gly) n.551A>G | |
| 7 | g.138763015T>G | CA369377612 | ATP6V0A4 | c.302A>C (p.Glu101Ala) n.551A>C | |
| 7 | g.138763016C>A | CA369377616 | ATP6V0A4 | c.301G>T (p.Glu101Ter) n.550G>T | |
| 7 | g.138763016C>G | CA369377618 | ATP6V0A4 | c.301G>C (p.Glu101Gln) n.550G>C | gnomAD v4 |
| 7 | g.138763016C>T | CA369377621 | ATP6V0A4 | c.301G>A (p.Glu101Lys) n.550G>A | |
| 7 | g.138763017T>A | CA457942199 | ATP6V0A4 | c.300A>T (p.Leu100=) n.549A>T | |
| 7 | g.138763017T>C | CA457942200 | ATP6V0A4 | c.300A>G (p.Leu100=) n.549A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.138763017T>G | CA457942201 | ATP6V0A4 | c.300A>C (p.Leu100=) n.549A>C | |
| 7 | g.138763017T= | CA1746790658 | ATP6V0A4 | c.300A= (p.Leu100=) n.549A= | |
| 7 | g.138763018A>C | CA369377625 | ATP6V0A4 | c.299T>G (p.Leu100Arg) n.548T>G | |
| 7 | g.138763018A>G | CA369377629 | ATP6V0A4 | c.299T>C (p.Leu100Pro) n.548T>C | |
| 7 | g.138763018A>T | CA369377632 | ATP6V0A4 | c.299T>A (p.Leu100Gln) n.548T>A | |
| 7 | g.138763019G>A | CA4505159 | ATP6V0A4 | c.298C>T (p.Leu100=) n.547C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.138763019G>C | CA369377647 | ATP6V0A4 | c.298C>G (p.Leu100Val) n.547C>G | |
| 7 | g.138763019G= | CA1746790659 | ATP6V0A4 | c.298C= (p.Leu100=) n.547C= | |
| 7 | g.138763019G>T | CA369377637 | ATP6V0A4 | c.298C>A (p.Leu100Ile) n.547C>A | |
| 7 | g.138763020A>C | CA457942202 | ATP6V0A4 | c.297T>G (p.Val99=) n.546T>G | |
| 7 | g.138763020A>G | CA457942203 | ATP6V0A4 | c.297T>C (p.Val99=) n.546T>C | |
| 7 | g.138763020A>T | CA457942204 | ATP6V0A4 | c.297T>A (p.Val99=) n.546T>A | |
| 7 | g.138763021A= | CA1746790660 | ATP6V0A4 | c.296T= (p.Val99=) n.545T= | |
| 7 | g.138763021A>C | CA4505160 | ATP6V0A4 | c.296T>G (p.Val99Gly) n.545T>G | dbSNP ExAC gnomAD v2 |
| 7 | g.138763021A>G | CA369377654 | ATP6V0A4 | c.296T>C (p.Val99Ala) n.545T>C | |
| 7 | g.138763021A>T | CA369377658 | ATP6V0A4 | c.296T>A (p.Val99Asp) n.545T>A | |
| 7 | g.138763022C>A | CA369377661 | ATP6V0A4 | c.295G>T (p.Val99Phe) n.544G>T | |
| 7 | g.138763022C= | CA1746790661 | ATP6V0A4 | c.295G= (p.Val99=) n.544G= | |
| 7 | g.138763022C>G | CA4505161 | ATP6V0A4 | c.295G>C (p.Val99Leu) n.544G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.138763022C>T | CA369377666 | ATP6V0A4 | c.295G>A (p.Val99Ile) n.544G>A | |
| 7 | g.138763023A= | CA1746790662 | ATP6V0A4 | c.294T= (p.Thr98=) n.543T= | |
| 7 | g.138763023A>C | CA457942205 | ATP6V0A4 | c.294T>G (p.Thr98=) n.543T>G | |
| 7 | g.138763023A>G | CA4505162 | ATP6V0A4 | c.294T>C (p.Thr98=) n.543T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.138763023A>T | CA4505163 | ATP6V0A4 | c.294T>A (p.Thr98=) n.543T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.138763024G>A | CA369377672 | ATP6V0A4 | c.293C>T (p.Thr98Ile) n.542C>T | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.138763024G>C | CA369377675 | ATP6V0A4 | c.293C>G (p.Thr98Ser) n.542C>G | |
| 7 | g.138763024G= | CA1746790663 | ATP6V0A4 | c.293C= (p.Thr98=) n.542C= | |
| 7 | g.138763024G>T | CA369377677 | ATP6V0A4 | c.293C>A (p.Thr98Asn) n.542C>A | |
| 7 | g.138763025T>A | CA369377682 | ATP6V0A4 | c.292A>T (p.Thr98Ser) n.541A>T | |
| 7 | g.138763025T>C | CA369377684 | ATP6V0A4 | c.292A>G (p.Thr98Ala) n.541A>G | gnomAD v4 |
| 7 | g.138763025T>G | CA369377686 | ATP6V0A4 | c.292A>C (p.Thr98Pro) n.541A>C | |
| 7 | g.138763026C>A | CA369377689 | ATP6V0A4 | c.292-1G>T (n.292-1G>T) n.541-1G>T | |
| 7 | g.138763026C= | CA1746790664 | ATP6V0A4 | c.292-1G= (n.292-1G=) n.541-1G= | |
| 7 | g.138763026C>G | CA369377693 | ATP6V0A4 | c.292-1G>C (n.292-1G>C) n.541-1G>C | |
| 7 | g.138763026C>T | CA4505164 | ATP6V0A4 | c.292-1G>A (n.292-1G>A) n.541-1G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.138763027T>A | CA369377696 | ATP6V0A4 | c.292-2A>T (n.292-2A>T) n.541-2A>T | |
| 7 | g.138763027T>C | CA369377699 | ATP6V0A4 | c.292-2A>G (n.292-2A>G) n.541-2A>G | dbSNP |
| 7 | g.138763027T>G | CA369377702 | ATP6V0A4 | c.292-2A>C (n.292-2A>C) n.541-2A>C | gnomAD v4 |
| 7 | g.138763027T= | CA1746790665 | ATP6V0A4 | c.292-2A= (n.292-2A=) n.541-2A= | |
| 7 | g.138763028A= | CA1746790666 | ATP6V0A4 | c.292-3T= (n.292-3T=) n.541-3T= | |
| 7 | g.138763028A>G | CA4505165 | ATP6V0A4 | c.292-3T>C (n.292-3T>C) n.541-3T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.138763028A>T | CA167130169 | ATP6V0A4 | c.292-3T>A (n.292-3T>A) n.541-3T>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.138763029T>C | CA2685129919 | ATP6V0A4 | c.292-4A>G (n.292-4A>G) n.541-4A>G | gnomAD v4 |
| 7 | g.138763030G>A | CA4505166 | ATP6V0A4 | c.292-5C>T (n.292-5C>T) n.541-5C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.138763030G>C | CA2778106559 | ATP6V0A4 | c.292-5C>G (n.292-5C>G) n.541-5C>G | |
| 7 | g.138763030G= | CA1746790667 | ATP6V0A4 | c.292-5C= (n.292-5C=) n.541-5C= | |
| 7 | g.138763030_138763055dup | CA2685129920 | ATP6V0A4 | c.292-30_292-5dup (n.292-30_292-5dup) n.541-30_541-5dup | gnomAD v4 |
| 7 | g.138763032del | CA2685129921 | ATP6V0A4 | c.292-7del (n.292-7del) n.541-7del | gnomAD v4 |
| 7 | g.138763033G>A | CA4505167 | ATP6V0A4 | c.292-8C>T (n.292-8C>T) n.541-8C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.138763033G= | CA1746790668 | ATP6V0A4 | c.292-8C= (n.292-8C=) n.541-8C= | |
| 7 | g.138763034G= | CA1746790669 | ATP6V0A4 | c.292-9C= (n.292-9C=) n.541-9C= | |
| 7 | g.138763034G>T | CA578206277 | ATP6V0A4 | c.292-9C>A (n.292-9C>A) n.541-9C>A | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.138763036A>G | CA2685129922 | ATP6V0A4 | c.292-11T>C (n.292-11T>C) n.541-11T>C | gnomAD v4 |
| 7 | g.138763038del | CA2685129923 | ATP6V0A4 | c.292-12del (n.292-12del) n.541-12del | gnomAD v4 |
| 7 | g.138763039A= | CA1746790670 | ATP6V0A4 | c.292-14T= (n.292-14T=) n.541-14T= | |
| 7 | g.138763039A>T | CA1746790671 | ATP6V0A4 | c.292-14T>A (n.292-14T>A) n.541-14T>A | dbSNP |
| 7 | g.138763040A= | CA1746790672 | ATP6V0A4 | c.292-15T= (n.292-15T=) n.541-15T= | |
| 7 | g.138763040A>C | CA578206279 | ATP6V0A4 | c.292-15T>G (n.292-15T>G) n.541-15T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.138763040A>G | CA2685129924 | ATP6V0A4 | c.292-15T>C (n.292-15T>C) n.541-15T>C | gnomAD v4 |
| 7 | g.138763042A= | CA1746790673 | ATP6V0A4 | c.292-17T= (n.292-17T=) n.541-17T= | |
| 7 | g.138763042A>G | CA1107811344 | ATP6V0A4 | c.292-17T>C (n.292-17T>C) n.541-17T>C | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.138763044G>A | CA1746790675 | ATP6V0A4 | c.292-19C>T (n.292-19C>T) n.541-19C>T | dbSNP gnomAD v4 |
| 7 | g.138763044G= | CA1746790674 | ATP6V0A4 | c.292-19C= (n.292-19C=) n.541-19C= | |
| 7 | g.138763047G>A | CA167130194 | ATP6V0A4 | c.292-22C>T (n.292-22C>T) n.541-22C>T | dbSNP gnomAD v4 |
| 7 | g.138763047G= | CA1746790676 | ATP6V0A4 | c.292-22C= (n.292-22C=) n.541-22C= |