Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.138762852G>C | CA2685129906 | ATP6V0A4 | c.417+48C>G (n.417+48C>G) n.666+48C>G | gnomAD v4 |
7 | g.138762855G>C | CA1746790590 | ATP6V0A4 | c.417+45C>G (n.417+45C>G) n.666+45C>G | dbSNP gnomAD v4 |
7 | g.138762855G= | CA1746790589 | ATP6V0A4 | c.417+45C= (n.417+45C=) n.666+45C= | |
7 | g.138762855G>T | CA4505136 | ATP6V0A4 | c.417+45C>A (n.417+45C>A) n.666+45C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.138762860G>A | CA2579035998 | ATP6V0A4 | c.417+40C>T (n.417+40C>T) n.666+40C>T | |
7 | g.138762860G= | CA1746790591 | ATP6V0A4 | c.417+40C= (n.417+40C=) n.666+40C= | |
7 | g.138762860G>T | CA1746790592 | ATP6V0A4 | c.417+40C>A (n.417+40C>A) n.666+40C>A | dbSNP |
7 | g.138762861A= | CA1746790593 | ATP6V0A4 | c.417+39T= (n.417+39T=) n.666+39T= | |
7 | g.138762861A>C | CA2685129907 | ATP6V0A4 | c.417+39T>G (n.417+39T>G) n.666+39T>G | gnomAD v4 |
7 | g.138762861A>G | CA1746790594 | ATP6V0A4 | c.417+39T>C (n.417+39T>C) n.666+39T>C | dbSNP |
7 | g.138762861A>T | CA2778106537 | ATP6V0A4 | c.417+39T>A (n.417+39T>A) n.666+39T>A | |
7 | g.138762863G>A | CA4505137 | ATP6V0A4 | c.417+37C>T (n.417+37C>T) n.666+37C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138762863G= | CA1746790595 | ATP6V0A4 | c.417+37C= (n.417+37C=) n.666+37C= | |
7 | g.138762864A= | CA1746790596 | ATP6V0A4 | c.417+36T= (n.417+36T=) n.666+36T= | |
7 | g.138762864A>G | CA1746790597 | ATP6V0A4 | c.417+36T>C (n.417+36T>C) n.666+36T>C | dbSNP |
7 | g.138762865A= | CA1746790598 | ATP6V0A4 | c.417+35T= (n.417+35T=) n.666+35T= | |
7 | g.138762865A>C | CA2579035999 | ATP6V0A4 | c.417+35T>G (n.417+35T>G) n.666+35T>G | gnomAD v4 |
7 | g.138762865A>G | CA578206052 | ATP6V0A4 | c.417+35T>C (n.417+35T>C) n.666+35T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138762866C= | CA1746790599 | ATP6V0A4 | c.417+34G= (n.417+34G=) n.666+34G= | |
7 | g.138762866C>T | CA4505138 | ATP6V0A4 | c.417+34G>A (n.417+34G>A) n.666+34G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138762867G>A | CA4505139 | ATP6V0A4 | c.417+33C>T (n.417+33C>T) n.666+33C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
7 | g.138762867G>C | CA167130064 | ATP6V0A4 | c.417+33C>G (n.417+33C>G) n.666+33C>G | dbSNP gnomAD v3 gnomAD v4 |
7 | g.138762867G= | CA1746790600 | ATP6V0A4 | c.417+33C= (n.417+33C=) n.666+33C= | |
7 | g.138762869G>A | CA1746790602 | ATP6V0A4 | c.417+31C>T (n.417+31C>T) n.666+31C>T | dbSNP |
7 | g.138762869G>C | CA1746790603 | ATP6V0A4 | c.417+31C>G (n.417+31C>G) n.666+31C>G | dbSNP gnomAD v4 |
7 | g.138762869G= | CA1746790601 | ATP6V0A4 | c.417+31C= (n.417+31C=) n.666+31C= | |
7 | g.138762870C>A | CA4505140 | ATP6V0A4 | c.417+30G>T (n.417+30G>T) n.666+30G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.138762870C= | CA1746790604 | ATP6V0A4 | c.417+30G= (n.417+30G=) n.666+30G= | |
7 | g.138762870C>G | CA2685129908 | ATP6V0A4 | c.417+30G>C (n.417+30G>C) n.666+30G>C | gnomAD v4 |
7 | g.138762872C= | CA1746790605 | ATP6V0A4 | c.417+28G= (n.417+28G=) n.666+28G= | |
7 | g.138762872C>G | CA578206054 | ATP6V0A4 | c.417+28G>C (n.417+28G>C) n.666+28G>C | dbSNP gnomAD v2 gnomAD v4 |
7 | g.138762872C>T | CA1746790606 | ATP6V0A4 | c.417+28G>A (n.417+28G>A) n.666+28G>A | dbSNP gnomAD v4 |
7 | g.138762873T>C | CA2685129909 | ATP6V0A4 | c.417+27A>G (n.417+27A>G) n.666+27A>G | gnomAD v4 |
7 | g.138762876A= | CA1746790607 | ATP6V0A4 | c.417+24T= (n.417+24T=) n.666+24T= | |
7 | g.138762876A>T | CA167130070 | ATP6V0A4 | c.417+24T>A (n.417+24T>A) n.666+24T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138762877G>C | CA1746790609 | ATP6V0A4 | c.417+23C>G (n.417+23C>G) n.666+23C>G | dbSNP |
7 | g.138762877G= | CA1746790608 | ATP6V0A4 | c.417+23C= (n.417+23C=) n.666+23C= | |
7 | g.138762879A>G | CA2685129910 | ATP6V0A4 | c.417+21T>C (n.417+21T>C) n.666+21T>C | gnomAD v4 |
7 | g.138762881C>A | CA2715726023 | ATP6V0A4 | c.417+19G>T (n.417+19G>T) n.666+19G>T | dbSNP |
7 | g.138762881C= | CA1746790610 | ATP6V0A4 | c.417+19G= (n.417+19G=) n.666+19G= | |
7 | g.138762881C>G | CA2685129911 | ATP6V0A4 | c.417+19G>C (n.417+19G>C) n.666+19G>C | gnomAD v4 |
7 | g.138762881C>T | CA1107811290 | ATP6V0A4 | c.417+19G>A (n.417+19G>A) n.666+19G>A | dbSNP gnomAD v3 gnomAD v4 |
7 | g.138762884A= | CA1746790611 | ATP6V0A4 | c.417+16T= (n.417+16T=) n.666+16T= | |
7 | g.138762884A>C | CA578206058 | ATP6V0A4 | c.417+16T>G (n.417+16T>G) n.666+16T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138762884A>G | CA2685129912 | ATP6V0A4 | c.417+16T>C (n.417+16T>C) n.666+16T>C | gnomAD v4 |
7 | g.138762886C>A | CA2685129913 | ATP6V0A4 | c.417+14G>T (n.417+14G>T) n.666+14G>T | gnomAD v4 |
7 | g.138762886C= | CA1746790612 | ATP6V0A4 | c.417+14G= (n.417+14G=) n.666+14G= | |
7 | g.138762886C>G | CA4505141 | ATP6V0A4 | c.417+14G>C (n.417+14G>C) n.666+14G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138762887C>T | CA2740892773 | ATP6V0A4 | c.417+13G>A (n.417+13G>A) n.666+13G>A | |
7 | g.138762888C>G | CA2579036000 | ATP6V0A4 | c.417+12G>C (n.417+12G>C) n.666+12G>C | |
7 | g.138762889C>A | CA2529143877 | ATP6V0A4 | c.417+11G>T (n.417+11G>T) n.666+11G>T | |
7 | g.138762889C= | CA1746790613 | ATP6V0A4 | c.417+11G= (n.417+11G=) n.666+11G= | |
7 | g.138762889C>T | CA1746790614 | ATP6V0A4 | c.417+11G>A (n.417+11G>A) n.666+11G>A | dbSNP |
7 | g.138762891_138762904del | CA2685129914 | ATP6V0A4 | c.414_417+10del n.663_666+10del | gnomAD v4 |
7 | g.138762891C>A | CA578206061 | ATP6V0A4 | c.417+9G>T (n.417+9G>T) n.666+9G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138762891C= | CA1746790615 | ATP6V0A4 | c.417+9G= (n.417+9G=) n.666+9G= | |
7 | g.138762891C>T | CA4505142 | ATP6V0A4 | c.417+9G>A (n.417+9G>A) n.666+9G>A | dbSNP ExAC gnomAD v2 gnomAD v3 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 |