Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.138732981C>ACA369379174ATP6V0A4c.1804G>T (p.Asp602Tyr)
c.1030G>T (p.Asp344Tyr)
c.697G>T (p.Asp233Tyr)
7g.138732981C=CA1746776860ATP6V0A4c.1804G= (p.Asp602=)
c.1030G= (p.Asp344=)
c.697G= (p.Asp233=)
7g.138732981C>GCA369379171ATP6V0A4c.1804G>C (p.Asp602His)
c.1030G>C (p.Asp344His)
c.697G>C (p.Asp233His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.138732981C>TCA369379173ATP6V0A4c.1804G>A (p.Asp602Asn)
c.1030G>A (p.Asp344Asn)
c.697G>A (p.Asp233Asn)
 gnomAD v4
7g.138732982A=CA1746776861ATP6V0A4c.1803T= (p.Phe601=)
c.1029T= (p.Phe343=)
c.696T= (p.Phe232=)
7g.138732982A>CCA167133101ATP6V0A4c.1803T>G (p.Phe601Leu)
c.1029T>G (p.Phe343Leu)
c.696T>G (p.Phe232Leu)
 dbSNP
7g.138732982A>GCA458150233ATP6V0A4c.1803T>C (p.Phe601=)
c.1029T>C (p.Phe343=)
c.696T>C (p.Phe232=)
7g.138732982A>TCA369379178ATP6V0A4c.1803T>A (p.Phe601Leu)
c.1029T>A (p.Phe343Leu)
c.696T>A (p.Phe232Leu)
7g.138732983A>CCA369379181ATP6V0A4c.1802T>G (p.Phe601Cys)
c.1028T>G (p.Phe343Cys)
c.695T>G (p.Phe232Cys)
7g.138732983A>GCA369379183ATP6V0A4c.1802T>C (p.Phe601Ser)
c.1028T>C (p.Phe343Ser)
c.695T>C (p.Phe232Ser)
 gnomAD v4
7g.138732983A>TCA369379184ATP6V0A4c.1802T>A (p.Phe601Tyr)
c.1028T>A (p.Phe343Tyr)
c.695T>A (p.Phe232Tyr)
7g.138732984A>CCA369379187ATP6V0A4c.1801T>G (p.Phe601Val)
c.1027T>G (p.Phe343Val)
c.694T>G (p.Phe232Val)
7g.138732984A>GCA369379191ATP6V0A4c.1801T>C (p.Phe601Leu)
c.1027T>C (p.Phe343Leu)
c.694T>C (p.Phe232Leu)
7g.138732984A>TCA369379189ATP6V0A4c.1801T>A (p.Phe601Ile)
c.1027T>A (p.Phe343Ile)
c.694T>A (p.Phe232Ile)
7g.138732985G>ACA458150234ATP6V0A4c.1800C>T (p.Cys600=)
c.1026C>T (p.Cys342=)
c.693C>T (p.Cys231=)
7g.138732985G>CCA369379194ATP6V0A4c.1800C>G (p.Cys600Trp)
c.1026C>G (p.Cys342Trp)
c.693C>G (p.Cys231Trp)
7g.138732985G>TCA369379196ATP6V0A4c.1800C>A (p.Cys600Ter)
c.1026C>A (p.Cys342Ter)
c.693C>A (p.Cys231Ter)
7g.138732986C>ACA369379199ATP6V0A4c.1799G>T (p.Cys600Phe)
c.1025G>T (p.Cys342Phe)
c.692G>T (p.Cys231Phe)
 dbSNP
7g.138732986C=CA1746776862ATP6V0A4c.1799G= (p.Cys600=)
c.1025G= (p.Cys342=)
c.692G= (p.Cys231=)
7g.138732986C>GCA369379202ATP6V0A4c.1799G>C (p.Cys600Ser)
c.1025G>C (p.Cys342Ser)
c.692G>C (p.Cys231Ser)
7g.138732986C>TCA369379204ATP6V0A4c.1799G>A (p.Cys600Tyr)
c.1025G>A (p.Cys342Tyr)
c.692G>A (p.Cys231Tyr)
7g.138732987A>CCA369379207ATP6V0A4c.1798T>G (p.Cys600Gly)
c.1024T>G (p.Cys342Gly)
c.691T>G (p.Cys231Gly)
7g.138732987A>GCA369379208ATP6V0A4c.1798T>C (p.Cys600Arg)
c.1024T>C (p.Cys342Arg)
c.691T>C (p.Cys231Arg)
7g.138732987A>TCA369379209ATP6V0A4c.1798T>A (p.Cys600Ser)
c.1024T>A (p.Cys342Ser)
c.691T>A (p.Cys231Ser)
7g.138732988G>ACA458150235ATP6V0A4c.1797C>T (p.Cys599=)
c.1023C>T (p.Cys341=)
c.690C>T (p.Cys230=)
7g.138732988G>CCA369379213ATP6V0A4c.1797C>G (p.Cys599Trp)
c.1023C>G (p.Cys341Trp)
c.690C>G (p.Cys230Trp)
7g.138732988G>TCA369379216ATP6V0A4c.1797C>A (p.Cys599Ter)
c.1023C>A (p.Cys341Ter)
c.690C>A (p.Cys230Ter)
 gnomAD v4
7g.138732989C>ACA369379221ATP6V0A4c.1796G>T (p.Cys599Phe)
c.1022G>T (p.Cys341Phe)
c.689G>T (p.Cys230Phe)
7g.138732989C>GCA369379219ATP6V0A4c.1796G>C (p.Cys599Ser)
c.1022G>C (p.Cys341Ser)
c.689G>C (p.Cys230Ser)
7g.138732989C>TCA369379218ATP6V0A4c.1796G>A (p.Cys599Tyr)
c.1022G>A (p.Cys341Tyr)
c.689G>A (p.Cys230Tyr)
7g.138732990A>CCA369379225ATP6V0A4c.1795T>G (p.Cys599Gly)
c.1021T>G (p.Cys341Gly)
c.688T>G (p.Cys230Gly)
7g.138732990A>GCA369379227ATP6V0A4c.1795T>C (p.Cys599Arg)
c.1021T>C (p.Cys341Arg)
c.688T>C (p.Cys230Arg)
 gnomAD v4
7g.138732990A>TCA369379228ATP6V0A4c.1795T>A (p.Cys599Ser)
c.1021T>A (p.Cys341Ser)
c.688T>A (p.Cys230Ser)
7g.138732991C>ACA369379233ATP6V0A4c.1794G>T (p.Trp598Cys)
c.1020G>T (p.Trp340Cys)
c.687G>T (p.Trp229Cys)
7g.138732991C=CA1746776863ATP6V0A4c.1794G= (p.Trp598=)
c.1020G= (p.Trp340=)
c.687G= (p.Trp229=)
7g.138732991C>GCA369379240ATP6V0A4c.1794G>C (p.Trp598Cys)
c.1020G>C (p.Trp340Cys)
c.687G>C (p.Trp229Cys)
7g.138732991C>TCA369379243ATP6V0A4c.1794G>A (p.Trp598Ter)
c.1020G>A (p.Trp340Ter)
c.687G>A (p.Trp229Ter)
 dbSNP gnomAD v4
7g.138732992C>ACA369379250ATP6V0A4c.1793G>T (p.Trp598Leu)
c.1019G>T (p.Trp340Leu)
c.686G>T (p.Trp229Leu)
7g.138732992C>GCA369379246ATP6V0A4c.1793G>C (p.Trp598Ser)
c.1019G>C (p.Trp340Ser)
c.686G>C (p.Trp229Ser)
7g.138732992C>TCA369379248ATP6V0A4c.1793G>A (p.Trp598Ter)
c.1019G>A (p.Trp340Ter)
c.686G>A (p.Trp229Ter)
 dbSNP gnomAD v4
7g.138732993A=CA1746776864ATP6V0A4c.1792T= (p.Trp598=)
c.1018T= (p.Trp340=)
c.685T= (p.Trp229=)
7g.138732993A>CCA369379253ATP6V0A4c.1792T>G (p.Trp598Gly)
c.1018T>G (p.Trp340Gly)
c.685T>G (p.Trp229Gly)
 gnomAD v4
7g.138732993A>GCA4504653ATP6V0A4c.1792T>C (p.Trp598Arg)
c.1018T>C (p.Trp340Arg)
c.685T>C (p.Trp229Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.138732993A>TCA369379257ATP6V0A4c.1792T>A (p.Trp598Arg)
c.1018T>A (p.Trp340Arg)
c.685T>A (p.Trp229Arg)
7g.138732994T>ACA369379261ATP6V0A4c.1791A>T (p.Lys597Asn)
c.1017A>T (p.Lys339Asn)
c.684A>T (p.Lys228Asn)
7g.138732994T>CCA458150236ATP6V0A4c.1791A>G (p.Lys597=)
c.1017A>G (p.Lys339=)
c.684A>G (p.Lys228=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.138732994T>GCA369379262ATP6V0A4c.1791A>C (p.Lys597Asn)
c.1017A>C (p.Lys339Asn)
c.684A>C (p.Lys228Asn)
7g.138732994T=CA1746776865ATP6V0A4c.1791A= (p.Lys597=)
c.1017A= (p.Lys339=)
c.684A= (p.Lys228=)
7g.138732995T>ACA369379272ATP6V0A4c.1790A>T (p.Lys597Ile)
c.1016A>T (p.Lys339Ile)
c.683A>T (p.Lys228Ile)
7g.138732995T>CCA167133139ATP6V0A4c.1790A>G (p.Lys597Arg)
c.1016A>G (p.Lys339Arg)
c.683A>G (p.Lys228Arg)
 dbSNP gnomAD v3 gnomAD v4
7g.138732995T>GCA369379274ATP6V0A4c.1790A>C (p.Lys597Thr)
c.1016A>C (p.Lys339Thr)
c.683A>C (p.Lys228Thr)
7g.138732995T=CA1746776866ATP6V0A4c.1790A= (p.Lys597=)
c.1016A= (p.Lys339=)
c.683A= (p.Lys228=)
7g.138732996T>ACA369379277ATP6V0A4c.1789A>T (p.Lys597Ter)
c.1015A>T (p.Lys339Ter)
c.682A>T (p.Lys228Ter)
7g.138732996T>CCA369379278ATP6V0A4c.1789A>G (p.Lys597Glu)
c.1015A>G (p.Lys339Glu)
c.682A>G (p.Lys228Glu)
7g.138732996T>GCA369379280ATP6V0A4c.1789A>C (p.Lys597Gln)
c.1015A>C (p.Lys339Gln)
c.682A>C (p.Lys228Gln)
 dbSNP
7g.138732996T=CA1746776867ATP6V0A4c.1789A= (p.Lys597=)
c.1015A= (p.Lys339=)
c.682A= (p.Lys228=)
7g.138732997G>ACA458150239ATP6V0A4c.1788C>T (p.Phe596=)
c.1014C>T (p.Phe338=)
c.681C>T (p.Phe227=)
7g.138732997G>CCA369379281ATP6V0A4c.1788C>G (p.Phe596Leu)
c.1014C>G (p.Phe338Leu)
c.681C>G (p.Phe227Leu)
7g.138732997G>TCA369379283ATP6V0A4c.1788C>A (p.Phe596Leu)
c.1014C>A (p.Phe338Leu)
c.681C>A (p.Phe227Leu)
7g.138732998A>CCA369379285ATP6V0A4c.1787T>G (p.Phe596Cys)
c.1013T>G (p.Phe338Cys)
c.680T>G (p.Phe227Cys)
7g.138732998A>GCA369379286ATP6V0A4c.1787T>C (p.Phe596Ser)
c.1013T>C (p.Phe338Ser)
c.680T>C (p.Phe227Ser)
7g.138732998A>TCA369379288ATP6V0A4c.1787T>A (p.Phe596Tyr)
c.1013T>A (p.Phe338Tyr)
c.680T>A (p.Phe227Tyr)
7g.138732999A>CCA369379290ATP6V0A4c.1786T>G (p.Phe596Val)
c.1012T>G (p.Phe338Val)
c.679T>G (p.Phe227Val)
7g.138732999A>GCA369379292ATP6V0A4c.1786T>C (p.Phe596Leu)
c.1012T>C (p.Phe338Leu)
c.679T>C (p.Phe227Leu)
7g.138732999A>TCA369379293ATP6V0A4c.1786T>A (p.Phe596Ile)
c.1012T>A (p.Phe338Ile)
c.679T>A (p.Phe227Ile)
7g.138733000A>CCA369379294ATP6V0A4c.1785T>G (p.Ile595Met)
c.1011T>G (p.Ile337Met)
c.678T>G (p.Ile226Met)
7g.138733000A>GCA458150241ATP6V0A4c.1785T>C (p.Ile595=)
c.1011T>C (p.Ile337=)
c.678T>C (p.Ile226=)
7g.138733000A>TCA458150242ATP6V0A4c.1785T>A (p.Ile595=)
c.1011T>A (p.Ile337=)
c.678T>A (p.Ile226=)
7g.138733001A>CCA369379297ATP6V0A4c.1784T>G (p.Ile595Ser)
c.1010T>G (p.Ile337Ser)
c.677T>G (p.Ile226Ser)
7g.138733001A>GCA369379298ATP6V0A4c.1784T>C (p.Ile595Thr)
c.1010T>C (p.Ile337Thr)
c.677T>C (p.Ile226Thr)
7g.138733001A>TCA369379296ATP6V0A4c.1784T>A (p.Ile595Asn)
c.1010T>A (p.Ile337Asn)
c.677T>A (p.Ile226Asn)
7g.138733002T>ACA369379299ATP6V0A4c.1783A>T (p.Ile595Phe)
c.1009A>T (p.Ile337Phe)
c.676A>T (p.Ile226Phe)
7g.138733002T>CCA369379302ATP6V0A4c.1783A>G (p.Ile595Val)
c.1009A>G (p.Ile337Val)
c.676A>G (p.Ile226Val)
 gnomAD v4
7g.138733002T>GCA369379300ATP6V0A4c.1783A>C (p.Ile595Leu)
c.1009A>C (p.Ile337Leu)
c.676A>C (p.Ile226Leu)
7g.138733003G>ACA458150245ATP6V0A4c.1782C>T (p.Ile594=)
c.1008C>T (p.Ile336=)
c.675C>T (p.Ile225=)
7g.138733003G>CCA369379303ATP6V0A4c.1782C>G (p.Ile594Met)
c.1008C>G (p.Ile336Met)
c.675C>G (p.Ile225Met)
7g.138733003G=CA1746776868ATP6V0A4c.1782C= (p.Ile594=)
c.1008C= (p.Ile336=)
c.675C= (p.Ile225=)
7g.138733003G>TCA458150247ATP6V0A4c.1782C>A (p.Ile594=)
c.1008C>A (p.Ile336=)
c.675C>A (p.Ile225=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.138733004A=CA1746776869ATP6V0A4c.1781T= (p.Ile594=)
c.1007T= (p.Ile336=)
c.674T= (p.Ile225=)
7g.138733004A>CCA369379307ATP6V0A4c.1781T>G (p.Ile594Ser)
c.1007T>G (p.Ile336Ser)
c.674T>G (p.Ile225Ser)
7g.138733004A>GCA4504654ATP6V0A4c.1781T>C (p.Ile594Thr)
c.1007T>C (p.Ile336Thr)
c.674T>C (p.Ile225Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.138733004A>TCA369379306ATP6V0A4c.1781T>A (p.Ile594Asn)
c.1007T>A (p.Ile336Asn)
c.674T>A (p.Ile225Asn)
 gnomAD v4
7g.138733005T>ACA369379308ATP6V0A4c.1780A>T (p.Ile594Phe)
c.1006A>T (p.Ile336Phe)
c.673A>T (p.Ile225Phe)
7g.138733005T>CCA369379309ATP6V0A4c.1780A>G (p.Ile594Val)
c.1006A>G (p.Ile336Val)
c.673A>G (p.Ile225Val)
7g.138733005T>GCA369379311ATP6V0A4c.1780A>C (p.Ile594Leu)
c.1006A>C (p.Ile336Leu)
c.673A>C (p.Ile225Leu)
7g.138733006C>ACA4504655ATP6V0A4c.1779G>T (p.Met593Ile)
c.1005G>T (p.Met335Ile)
c.672G>T (p.Met224Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.138733006C=CA1746776870ATP6V0A4c.1779G= (p.Met593=)
c.1005G= (p.Met335=)
c.672G= (p.Met224=)
7g.138733006C>GCA369379313ATP6V0A4c.1779G>C (p.Met593Ile)
c.1005G>C (p.Met335Ile)
c.672G>C (p.Met224Ile)
7g.138733006C>TCA369379315ATP6V0A4c.1779G>A (p.Met593Ile)
c.1005G>A (p.Met335Ile)
c.672G>A (p.Met224Ile)
7g.138733007A>CCA369379317ATP6V0A4c.1778T>G (p.Met593Arg)
c.1004T>G (p.Met335Arg)
c.671T>G (p.Met224Arg)
7g.138733007A>GCA369379318ATP6V0A4c.1778T>C (p.Met593Thr)
c.1004T>C (p.Met335Thr)
c.671T>C (p.Met224Thr)
 gnomAD v4
7g.138733007A>TCA369379319ATP6V0A4c.1778T>A (p.Met593Lys)
c.1004T>A (p.Met335Lys)
c.671T>A (p.Met224Lys)
7g.138733008T>ACA369379322ATP6V0A4c.1777A>T (p.Met593Leu)
c.1003A>T (p.Met335Leu)
c.670A>T (p.Met224Leu)
 gnomAD v4
7g.138733008T>CCA369379320ATP6V0A4c.1777A>G (p.Met593Val)
c.1003A>G (p.Met335Val)
c.670A>G (p.Met224Val)
 gnomAD v4
7g.138733008T>GCA369379321ATP6V0A4c.1777A>C (p.Met593Leu)
c.1003A>C (p.Met335Leu)
c.670A>C (p.Met224Leu)
7g.138733009G>ACA458150252ATP6V0A4c.1776C>T (p.Phe592=)
c.1002C>T (p.Phe334=)
c.669C>T (p.Phe223=)
7g.138733009G>CCA369379323ATP6V0A4c.1776C>G (p.Phe592Leu)
c.1002C>G (p.Phe334Leu)
c.669C>G (p.Phe223Leu)
7g.138733009G>TCA369379324ATP6V0A4c.1776C>A (p.Phe592Leu)
c.1002C>A (p.Phe334Leu)
c.669C>A (p.Phe223Leu)
7g.138733010A>CCA369379325ATP6V0A4c.1775T>G (p.Phe592Cys)
c.1001T>G (p.Phe334Cys)
c.668T>G (p.Phe223Cys)
7g.138733010A>GCA369379326ATP6V0A4c.1775T>C (p.Phe592Ser)
c.1001T>C (p.Phe334Ser)
c.668T>C (p.Phe223Ser)
7g.138733010A>TCA369379327ATP6V0A4c.1775T>A (p.Phe592Tyr)
c.1001T>A (p.Phe334Tyr)
c.668T>A (p.Phe223Tyr)
7g.138733011A>CCA369379328ATP6V0A4c.1774T>G (p.Phe592Val)
c.1000T>G (p.Phe334Val)
c.667T>G (p.Phe223Val)
7g.138733011A>GCA369379329ATP6V0A4c.1774T>C (p.Phe592Leu)
c.1000T>C (p.Phe334Leu)
c.667T>C (p.Phe223Leu)
7g.138733011A>TCA369379330ATP6V0A4c.1774T>A (p.Phe592Ile)
c.1000T>A (p.Phe334Ile)
c.667T>A (p.Phe223Ile)
7g.138733012A>CCA458150254ATP6V0A4c.1773T>G (p.Val591=)
c.999T>G (p.Val333=)
c.666T>G (p.Val222=)
7g.138733012A>GCA458150255ATP6V0A4c.1773T>C (p.Val591=)
c.999T>C (p.Val333=)
c.666T>C (p.Val222=)
7g.138733012A>TCA458150256ATP6V0A4c.1773T>A (p.Val591=)
c.999T>A (p.Val333=)
c.666T>A (p.Val222=)
7g.138733013A>CCA369379331ATP6V0A4c.1772T>G (p.Val591Gly)
c.998T>G (p.Val333Gly)
c.665T>G (p.Val222Gly)
7g.138733013A>GCA369379332ATP6V0A4c.1772T>C (p.Val591Ala)
c.998T>C (p.Val333Ala)
c.665T>C (p.Val222Ala)
7g.138733013A>TCA369379333ATP6V0A4c.1772T>A (p.Val591Asp)
c.998T>A (p.Val333Asp)
c.665T>A (p.Val222Asp)
7g.138733014C>ACA369379335ATP6V0A4c.1771G>T (p.Val591Phe)
c.997G>T (p.Val333Phe)
c.664G>T (p.Val222Phe)
7g.138733014C>GCA369379336ATP6V0A4c.1771G>C (p.Val591Leu)
c.997G>C (p.Val333Leu)
c.664G>C (p.Val222Leu)
7g.138733014C>TCA369379334ATP6V0A4c.1771G>A (p.Val591Ile)
c.997G>A (p.Val333Ile)
c.664G>A (p.Val222Ile)
7g.138733015C>ACA458150257ATP6V0A4c.1770G>T (p.Leu590=)
c.996G>T (p.Leu332=)
c.663G>T (p.Leu221=)
7g.138733015C>GCA458150258ATP6V0A4c.1770G>C (p.Leu590=)
c.996G>C (p.Leu332=)
c.663G>C (p.Leu221=)
7g.138733015C>TCA458150259ATP6V0A4c.1770G>A (p.Leu590=)
c.996G>A (p.Leu332=)
c.663G>A (p.Leu221=)
7g.138733016A>CCA369379337ATP6V0A4c.1769T>G (p.Leu590Arg)
c.995T>G (p.Leu332Arg)
c.662T>G (p.Leu221Arg)
7g.138733016A>GCA369379338ATP6V0A4c.1769T>C (p.Leu590Pro)
c.995T>C (p.Leu332Pro)
c.662T>C (p.Leu221Pro)
7g.138733016A>TCA369379339ATP6V0A4c.1769T>A (p.Leu590Gln)
c.995T>A (p.Leu332Gln)
c.662T>A (p.Leu221Gln)
 gnomAD v4
7g.138733017G>ACA458150264ATP6V0A4c.1768C>T (p.Leu590=)
c.994C>T (p.Leu332=)
c.661C>T (p.Leu221=)
 gnomAD v4
7g.138733017G>CCA369379340ATP6V0A4c.1768C>G (p.Leu590Val)
c.994C>G (p.Leu332Val)
c.661C>G (p.Leu221Val)
7g.138733017G>TCA369379341ATP6V0A4c.1768C>A (p.Leu590Met)
c.994C>A (p.Leu332Met)
c.661C>A (p.Leu221Met)
7g.138733018G>ACA458150266ATP6V0A4c.1767C>T (p.Tyr589=)
c.993C>T (p.Tyr331=)
c.660C>T (p.Tyr220=)
 dbSNP
7g.138733018G>CCA369379342ATP6V0A4c.1767C>G (p.Tyr589Ter)
c.993C>G (p.Tyr331Ter)
c.660C>G (p.Tyr220Ter)
7g.138733018G=CA1746776871ATP6V0A4c.1767C= (p.Tyr589=)
c.993C= (p.Tyr331=)
c.660C= (p.Tyr220=)
7g.138733018G>TCA369379343ATP6V0A4c.1767C>A (p.Tyr589Ter)
c.993C>A (p.Tyr331Ter)
c.660C>A (p.Tyr220Ter)
7g.138733019T>ACA369379344ATP6V0A4c.1766A>T (p.Tyr589Phe)
c.992A>T (p.Tyr331Phe)
c.659A>T (p.Tyr220Phe)
7g.138733019T>CCA369379346ATP6V0A4c.1766A>G (p.Tyr589Cys)
c.992A>G (p.Tyr331Cys)
c.659A>G (p.Tyr220Cys)
7g.138733019T>GCA369379345ATP6V0A4c.1766A>C (p.Tyr589Ser)
c.992A>C (p.Tyr331Ser)
c.659A>C (p.Tyr220Ser)
7g.138733020A>CCA369379347ATP6V0A4c.1765T>G (p.Tyr589Asp)
c.991T>G (p.Tyr331Asp)
c.658T>G (p.Tyr220Asp)
7g.138733020A>GCA369379348ATP6V0A4c.1765T>C (p.Tyr589His)
c.991T>C (p.Tyr331His)
c.658T>C (p.Tyr220His)
7g.138733020A>TCA369379349ATP6V0A4c.1765T>A (p.Tyr589Asn)
c.991T>A (p.Tyr331Asn)
c.658T>A (p.Tyr220Asn)
7g.138733021T>ACA4504656ATP6V0A4c.1764A>T (p.Gly588=)
c.990A>T (p.Gly330=)
c.657A>T (p.Gly219=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.138733021T>CCA458150271ATP6V0A4c.1764A>G (p.Gly588=)
c.990A>G (p.Gly330=)
c.657A>G (p.Gly219=)
 gnomAD v4
7g.138733021T>GCA458150272ATP6V0A4c.1764A>C (p.Gly588=)
c.990A>C (p.Gly330=)
c.657A>C (p.Gly219=)
7g.138733021T=CA1746776872ATP6V0A4c.1764A= (p.Gly588=)
c.990A= (p.Gly330=)
c.657A= (p.Gly219=)
7g.138733021_138733022insTTCTGCTATTTTTTTTTTTTTTACA1746776873ATP6V0A4c.1763_1764insTAAAAAAAAAAAAAATAGCAGAA (p.Tyr589LysfsTer13)
c.989_990insTAAAAAAAAAAAAAATAGCAGAA (p.Tyr331LysfsTer13)
c.656_657insTAAAAAAAAAAAAAATAGCAGAA (p.Tyr220LysfsTer13)
 dbSNP
7g.138733022C>ACA369379350ATP6V0A4c.1763G>T (p.Gly588Val)
c.989G>T (p.Gly330Val)
c.656G>T (p.Gly219Val)
7g.138733022C>GCA369379352ATP6V0A4c.1763G>C (p.Gly588Ala)
c.989G>C (p.Gly330Ala)
c.656G>C (p.Gly219Ala)
7g.138733022C>TCA369379351ATP6V0A4c.1763G>A (p.Gly588Glu)
c.989G>A (p.Gly330Glu)
c.656G>A (p.Gly219Glu)
7g.138733023C>ACA369379353ATP6V0A4c.1762G>T (p.Gly588Ter)
c.988G>T (p.Gly330Ter)
c.655G>T (p.Gly219Ter)
7g.138733023C>GCA369379354ATP6V0A4c.1762G>C (p.Gly588Arg)
c.988G>C (p.Gly330Arg)
c.655G>C (p.Gly219Arg)
7g.138733023C>TCA369379355ATP6V0A4c.1762G>A (p.Gly588Arg)
c.988G>A (p.Gly330Arg)
c.655G>A (p.Gly219Arg)
7g.138733024A=CA1746776874ATP6V0A4c.1761T= (p.Phe587=)
c.987T= (p.Phe329=)
c.654T= (p.Phe218=)
7g.138733024A>CCA369379356ATP6V0A4c.1761T>G (p.Phe587Leu)
c.987T>G (p.Phe329Leu)
c.654T>G (p.Phe218Leu)
7g.138733024A>GCA458150276ATP6V0A4c.1761T>C (p.Phe587=)
c.987T>C (p.Phe329=)
c.654T>C (p.Phe218=)
7g.138733024A>TCA369379357ATP6V0A4c.1761T>A (p.Phe587Leu)
c.987T>A (p.Phe329Leu)
c.654T>A (p.Phe218Leu)
 dbSNP gnomAD v2 gnomAD v4
7g.138733025A>CCA369379358ATP6V0A4c.1760T>G (p.Phe587Cys)
c.986T>G (p.Phe329Cys)
c.653T>G (p.Phe218Cys)
 gnomAD v4
7g.138733025A>GCA369379359ATP6V0A4c.1760T>C (p.Phe587Ser)
c.986T>C (p.Phe329Ser)
c.653T>C (p.Phe218Ser)
 gnomAD v4
7g.138733025A>TCA369379360ATP6V0A4c.1760T>A (p.Phe587Tyr)
c.986T>A (p.Phe329Tyr)
c.653T>A (p.Phe218Tyr)
7g.138733026A=CA1746776875ATP6V0A4c.1759T= (p.Phe587=)
c.985T= (p.Phe329=)
c.652T= (p.Phe218=)
7g.138733026A>CCA369379361ATP6V0A4c.1759T>G (p.Phe587Val)
c.985T>G (p.Phe329Val)
c.652T>G (p.Phe218Val)
7g.138733026A>GCA4504657ATP6V0A4c.1759T>C (p.Phe587Leu)
c.985T>C (p.Phe329Leu)
c.652T>C (p.Phe218Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.138733026A>TCA369379362ATP6V0A4c.1759T>A (p.Phe587Ile)
c.985T>A (p.Phe329Ile)
c.652T>A (p.Phe218Ile)
7g.138733027C>ACA458150280ATP6V0A4c.1758G>T (p.Leu586=)
c.984G>T (p.Leu328=)
c.651G>T (p.Leu217=)
7g.138733027C>GCA458150281ATP6V0A4c.1758G>C (p.Leu586=)
c.984G>C (p.Leu328=)
c.651G>C (p.Leu217=)
 COSMIC
7g.138733027C>TCA458150279ATP6V0A4c.1758G>A (p.Leu586=)
c.984G>A (p.Leu328=)
c.651G>A (p.Leu217=)
 COSMIC
7g.138733028A>CCA369379365ATP6V0A4c.1757T>G (p.Leu586Arg)
c.983T>G (p.Leu328Arg)
c.650T>G (p.Leu217Arg)
7g.138733028A>GCA369379364ATP6V0A4c.1757T>C (p.Leu586Pro)
c.983T>C (p.Leu328Pro)
c.650T>C (p.Leu217Pro)
7g.138733028A>TCA369379363ATP6V0A4c.1757T>A (p.Leu586Gln)
c.983T>A (p.Leu328Gln)
c.650T>A (p.Leu217Gln)
7g.138733028_138733029insCACCCCA2778102838ATP6V0A4c.1756_1757insGGGTG (p.Leu586ArgfsTer10)
c.982_983insGGGTG (p.Leu328ArgfsTer10)
c.649_650insGGGTG (p.Leu217ArgfsTer10)
7g.138733029G>ACA4504658ATP6V0A4c.1756C>T (p.Leu586=)
c.982C>T (p.Leu328=)
c.649C>T (p.Leu217=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.138733029G>CCA369379367ATP6V0A4c.1756C>G (p.Leu586Val)
c.982C>G (p.Leu328Val)
c.649C>G (p.Leu217Val)
7g.138733029G=CA1746776876ATP6V0A4c.1756C= (p.Leu586=)
c.982C= (p.Leu328=)
c.649C= (p.Leu217=)
7g.138733029G>TCA369379366ATP6V0A4c.1756C>A (p.Leu586Met)
c.982C>A (p.Leu328Met)
c.649C>A (p.Leu217Met)
7g.138733030A=CA1746776877ATP6V0A4c.1755T= (p.Cys585=)
c.981T= (p.Cys327=)
c.648T= (p.Cys216=)
7g.138733030A>CCA369379368ATP6V0A4c.1755T>G (p.Cys585Trp)
c.981T>G (p.Cys327Trp)
c.648T>G (p.Cys216Trp)
7g.138733030A>GCA458150284ATP6V0A4c.1755T>C (p.Cys585=)
c.981T>C (p.Cys327=)
c.648T>C (p.Cys216=)
 dbSNP gnomAD v4
7g.138733030A>TCA369379369ATP6V0A4c.1755T>A (p.Cys585Ter)
c.981T>A (p.Cys327Ter)
c.648T>A (p.Cys216Ter)
 ClinVar dbSNP
7g.138733031C>ACA369379370ATP6V0A4c.1754G>T (p.Cys585Phe)
c.980G>T (p.Cys327Phe)
c.647G>T (p.Cys216Phe)
7g.138733031C>GCA369379371ATP6V0A4c.1754G>C (p.Cys585Ser)
c.980G>C (p.Cys327Ser)
c.647G>C (p.Cys216Ser)
7g.138733031C>TCA369379372ATP6V0A4c.1754G>A (p.Cys585Tyr)
c.980G>A (p.Cys327Tyr)
c.647G>A (p.Cys216Tyr)
7g.138733032A>CCA369379373ATP6V0A4c.1753T>G (p.Cys585Gly)
c.979T>G (p.Cys327Gly)
c.646T>G (p.Cys216Gly)
7g.138733032A>GCA369379374ATP6V0A4c.1753T>C (p.Cys585Arg)
c.979T>C (p.Cys327Arg)
c.646T>C (p.Cys216Arg)
7g.138733032A>TCA369379375ATP6V0A4c.1753T>A (p.Cys585Ser)
c.979T>A (p.Cys327Ser)
c.646T>A (p.Cys216Ser)
7g.138733033C>ACA458150286ATP6V0A4c.1752G>T (p.Leu584=)
c.978G>T (p.Leu326=)
c.645G>T (p.Leu215=)
7g.138733033C>GCA458150288ATP6V0A4c.1752G>C (p.Leu584=)
c.978G>C (p.Leu326=)
c.645G>C (p.Leu215=)
7g.138733033C>TCA458150289ATP6V0A4c.1752G>A (p.Leu584=)
c.978G>A (p.Leu326=)
c.645G>A (p.Leu215=)
7g.138733034A>CCA369379376ATP6V0A4c.1751T>G (p.Leu584Arg)
c.977T>G (p.Leu326Arg)
c.644T>G (p.Leu215Arg)
7g.138733034A>GCA369379377ATP6V0A4c.1751T>C (p.Leu584Pro)
c.977T>C (p.Leu326Pro)
c.644T>C (p.Leu215Pro)
7g.138733034A>TCA369379378ATP6V0A4c.1751T>A (p.Leu584Gln)
c.977T>A (p.Leu326Gln)
c.644T>A (p.Leu215Gln)
7g.138733035G>ACA458150291ATP6V0A4c.1750C>T (p.Leu584=)
c.976C>T (p.Leu326=)
c.643C>T (p.Leu215=)
7g.138733035G>CCA369379380ATP6V0A4c.1750C>G (p.Leu584Val)
c.976C>G (p.Leu326Val)
c.643C>G (p.Leu215Val)
 dbSNP gnomAD v4
7g.138733035G=CA1746776878ATP6V0A4c.1750C= (p.Leu584=)
c.976C= (p.Leu326=)
c.643C= (p.Leu215=)
7g.138733035G>TCA369379379ATP6V0A4c.1750C>A (p.Leu584Met)
c.976C>A (p.Leu326Met)
c.643C>A (p.Leu215Met)
 COSMIC
7g.138733036G>ACA458150292ATP6V0A4c.1749C>T (p.Ile583=)
c.975C>T (p.Ile325=)
c.642C>T (p.Ile214=)
 dbSNP COSMIC
7g.138733036G>CCA4504659ATP6V0A4c.1749C>G (p.Ile583Met)
c.975C>G (p.Ile325Met)
c.642C>G (p.Ile214Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.138733036G=CA1746776879ATP6V0A4c.1749C= (p.Ile583=)
c.975C= (p.Ile325=)
c.642C= (p.Ile214=)
7g.138733036G>TCA458150294ATP6V0A4c.1749C>A (p.Ile583=)
c.975C>A (p.Ile325=)
c.642C>A (p.Ile214=)
7g.138733037A>CCA369379381ATP6V0A4c.1748T>G (p.Ile583Ser)
c.974T>G (p.Ile325Ser)
c.641T>G (p.Ile214Ser)
7g.138733037A>GCA369379382ATP6V0A4c.1748T>C (p.Ile583Thr)
c.974T>C (p.Ile325Thr)
c.641T>C (p.Ile214Thr)
7g.138733037A>TCA369379383ATP6V0A4c.1748T>A (p.Ile583Asn)
c.974T>A (p.Ile325Asn)
c.641T>A (p.Ile214Asn)
7g.138733038T>ACA369379384ATP6V0A4c.1747A>T (p.Ile583Phe)
c.973A>T (p.Ile325Phe)
c.640A>T (p.Ile214Phe)
7g.138733038T>CCA369379385ATP6V0A4c.1747A>G (p.Ile583Val)
c.973A>G (p.Ile325Val)
c.640A>G (p.Ile214Val)
7g.138733038T>GCA369379386ATP6V0A4c.1747A>C (p.Ile583Leu)
c.973A>C (p.Ile325Leu)
c.640A>C (p.Ile214Leu)
7g.138733039A>CCA369379387ATP6V0A4c.1746T>G (p.Phe582Leu)
c.972T>G (p.Phe324Leu)
c.639T>G (p.Phe213Leu)
7g.138733039A>GCA458150301ATP6V0A4c.1746T>C (p.Phe582=)
c.972T>C (p.Phe324=)
c.639T>C (p.Phe213=)
7g.138733039A>TCA369379388ATP6V0A4c.1746T>A (p.Phe582Leu)
c.972T>A (p.Phe324Leu)
c.639T>A (p.Phe213Leu)
7g.138733040A>CCA369379389ATP6V0A4c.1745T>G (p.Phe582Cys)
c.971T>G (p.Phe324Cys)
c.638T>G (p.Phe213Cys)
 COSMIC
7g.138733040A>GCA369379390ATP6V0A4c.1745T>C (p.Phe582Ser)
c.971T>C (p.Phe324Ser)
c.638T>C (p.Phe213Ser)
7g.138733040A>TCA369379391ATP6V0A4c.1745T>A (p.Phe582Tyr)
c.971T>A (p.Phe324Tyr)
c.638T>A (p.Phe213Tyr)
7g.138733041A>CCA369379393ATP6V0A4c.1744T>G (p.Phe582Val)
c.970T>G (p.Phe324Val)
c.637T>G (p.Phe213Val)
7g.138733041A>GCA369379394ATP6V0A4c.1744T>C (p.Phe582Leu)
c.970T>C (p.Phe324Leu)
c.637T>C (p.Phe213Leu)
7g.138733041A>TCA369379392ATP6V0A4c.1744T>A (p.Phe582Ile)
c.970T>A (p.Phe324Ile)
c.637T>A (p.Phe213Ile)
7g.138733042A>CCA369379395ATP6V0A4c.1743T>G (p.Ile581Met)
c.969T>G (p.Ile323Met)
c.636T>G (p.Ile212Met)
7g.138733042A>GCA458150243ATP6V0A4c.1743T>C (p.Ile581=)
c.969T>C (p.Ile323=)
c.636T>C (p.Ile212=)
7g.138733042A>TCA458150244ATP6V0A4c.1743T>A (p.Ile581=)
c.969T>A (p.Ile323=)
c.636T>A (p.Ile212=)
7g.138733043A>CCA369379396ATP6V0A4c.1742T>G (p.Ile581Ser)
c.968T>G (p.Ile323Ser)
c.635T>G (p.Ile212Ser)
7g.138733043A>GCA369379397ATP6V0A4c.1742T>C (p.Ile581Thr)
c.968T>C (p.Ile323Thr)
c.635T>C (p.Ile212Thr)
7g.138733043A>TCA369379398ATP6V0A4c.1742T>A (p.Ile581Asn)
c.968T>A (p.Ile323Asn)
c.635T>A (p.Ile212Asn)
7g.138733044T>ACA369379399ATP6V0A4c.1741A>T (p.Ile581Phe)
c.967A>T (p.Ile323Phe)
c.634A>T (p.Ile212Phe)
7g.138733044T>CCA369379400ATP6V0A4c.1741A>G (p.Ile581Val)
c.967A>G (p.Ile323Val)
c.634A>G (p.Ile212Val)
 dbSNP gnomAD v3 gnomAD v4
7g.138733044T>GCA369379401ATP6V0A4c.1741A>C (p.Ile581Leu)
c.967A>C (p.Ile323Leu)
c.634A>C (p.Ile212Leu)
7g.138733044T=CA1746776880ATP6V0A4c.1741A= (p.Ile581=)
c.967A= (p.Ile323=)
c.634A= (p.Ile212=)
7g.138733045C>ACA369379402ATP6V0A4c.1740G>T (p.Met580Ile)
c.966G>T (p.Met322Ile)
c.633G>T (p.Met211Ile)
7g.138733045C=CA1746776881ATP6V0A4c.1740G= (p.Met580=)
c.966G= (p.Met322=)
c.633G= (p.Met211=)
7g.138733045C>GCA369379403ATP6V0A4c.1740G>C (p.Met580Ile)
c.966G>C (p.Met322Ile)
c.633G>C (p.Met211Ile)
 gnomAD v4
7g.138733045C>TCA4504660ATP6V0A4c.1740G>A (p.Met580Ile)
c.966G>A (p.Met322Ile)
c.633G>A (p.Met211Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.138733045_138733046delinsTGCA2580077501ATP6V0A4c.1739_1740delinsCA (p.Met580Thr)
c.965_966delinsCA (p.Met322Thr)
c.632_633delinsCA (p.Met211Thr)
 ClinVar
7g.138733046A=CA1630834986ATP6V0A4c.1739T= (p.Met580=)
c.965T= (p.Met322=)
c.632T= (p.Met211=)
7g.138733046A>CCA369379404ATP6V0A4c.1739T>G (p.Met580Arg)
c.965T>G (p.Met322Arg)
c.632T>G (p.Met211Arg)
7g.138733046A>GCA117293ATP6V0A4c.1739T>C (p.Met580Thr)
c.965T>C (p.Met322Thr)
c.632T>C (p.Met211Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.138733046A>TCA369379405ATP6V0A4c.1739T>A (p.Met580Lys)
c.965T>A (p.Met322Lys)
c.632T>A (p.Met211Lys)
7g.138733047T>ACA369379408ATP6V0A4c.1738A>T (p.Met580Leu)
c.964A>T (p.Met322Leu)
c.631A>T (p.Met211Leu)
7g.138733047T>CCA369379407ATP6V0A4c.1738A>G (p.Met580Val)
c.964A>G (p.Met322Val)
c.631A>G (p.Met211Val)
7g.138733047T>GCA369379406ATP6V0A4c.1738A>C (p.Met580Leu)
c.964A>C (p.Met322Leu)
c.631A>C (p.Met211Leu)
7g.138733048C>ACA369379409ATP6V0A4c.1737G>T (p.Glu579Asp)
c.963G>T (p.Glu321Asp)
c.630G>T (p.Glu210Asp)
7g.138733048C=CA1746776882ATP6V0A4c.1737G= (p.Glu579=)
c.963G= (p.Glu321=)
c.630G= (p.Glu210=)
7g.138733048C>GCA369379410ATP6V0A4c.1737G>C (p.Glu579Asp)
c.963G>C (p.Glu321Asp)
c.630G>C (p.Glu210Asp)
7g.138733048C>TCA4504661ATP6V0A4c.1737G>A (p.Glu579=)
c.963G>A (p.Glu321=)
c.630G>A (p.Glu210=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.138733049T>ACA369379411ATP6V0A4c.1736A>T (p.Glu579Val)
c.962A>T (p.Glu321Val)
c.629A>T (p.Glu210Val)
7g.138733049T>CCA369379412ATP6V0A4c.1736A>G (p.Glu579Gly)
c.962A>G (p.Glu321Gly)
c.629A>G (p.Glu210Gly)
 gnomAD v4
7g.138733049T>GCA369379413ATP6V0A4c.1736A>C (p.Glu579Ala)
c.962A>C (p.Glu321Ala)
c.629A>C (p.Glu210Ala)
 gnomAD v4
7g.138733050C>ACA369379414ATP6V0A4c.1735G>T (p.Glu579Ter)
c.961G>T (p.Glu321Ter)
c.628G>T (p.Glu210Ter)
7g.138733050C=CA1746776883ATP6V0A4c.1735G= (p.Glu579=)
c.961G= (p.Glu321=)
c.628G= (p.Glu210=)
7g.138733050C>GCA369379415ATP6V0A4c.1735G>C (p.Glu579Gln)
c.961G>C (p.Glu321Gln)
c.628G>C (p.Glu210Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.138733050C>TCA369379416ATP6V0A4c.1735G>A (p.Glu579Lys)
c.961G>A (p.Glu321Lys)
c.628G>A (p.Glu210Lys)
7g.138733051A>CCA458150260ATP6V0A4c.1734T>G (p.Pro578=)
c.960T>G (p.Pro320=)
c.627T>G (p.Pro209=)
 gnomAD v4
7g.138733051A>GCA458150261ATP6V0A4c.1734T>C (p.Pro578=)
c.960T>C (p.Pro320=)
c.627T>C (p.Pro209=)
7g.138733051A>TCA458150263ATP6V0A4c.1734T>A (p.Pro578=)
c.960T>A (p.Pro320=)
c.627T>A (p.Pro209=)
7g.138733052G>ACA369379417ATP6V0A4c.1733C>T (p.Pro578Leu)
c.959C>T (p.Pro320Leu)
c.626C>T (p.Pro209Leu)
 ClinVar dbSNP
7g.138733052G>CCA369379418ATP6V0A4c.1733C>G (p.Pro578Arg)
c.959C>G (p.Pro320Arg)
c.626C>G (p.Pro209Arg)
7g.138733052G=CA1746776884ATP6V0A4c.1733C= (p.Pro578=)
c.959C= (p.Pro320=)
c.626C= (p.Pro209=)
7g.138733052G>TCA369379419ATP6V0A4c.1733C>A (p.Pro578His)
c.959C>A (p.Pro320His)
c.626C>A (p.Pro209His)
7g.138733053G>ACA369379422ATP6V0A4c.1732C>T (p.Pro578Ser)
c.958C>T (p.Pro320Ser)
c.625C>T (p.Pro209Ser)
 dbSNP gnomAD v2
7g.138733053G>CCA369379421ATP6V0A4c.1732C>G (p.Pro578Ala)
c.958C>G (p.Pro320Ala)
c.625C>G (p.Pro209Ala)
 gnomAD v4
7g.138733053G=CA1746776885ATP6V0A4c.1732C= (p.Pro578=)
c.958C= (p.Pro320=)
c.625C= (p.Pro209=)
7g.138733053G>TCA369379420ATP6V0A4c.1732C>A (p.Pro578Thr)
c.958C>A (p.Pro320Thr)
c.625C>A (p.Pro209Thr)
 COSMIC
7g.138733054G>ACA458150270ATP6V0A4c.1731C>T (p.Ile577=)
c.957C>T (p.Ile319=)
c.624C>T (p.Ile208=)
 dbSNP gnomAD v4
7g.138733054G>CCA369379423ATP6V0A4c.1731C>G (p.Ile577Met)
c.957C>G (p.Ile319Met)
c.624C>G (p.Ile208Met)
7g.138733054G=CA1746776886ATP6V0A4c.1731C= (p.Ile577=)
c.957C= (p.Ile319=)
c.624C= (p.Ile208=)
7g.138733054G>TCA458150273ATP6V0A4c.1731C>A (p.Ile577=)
c.957C>A (p.Ile319=)
c.624C>A (p.Ile208=)
7g.138733055A>CCA369379425ATP6V0A4c.1730T>G (p.Ile577Ser)
c.956T>G (p.Ile319Ser)
c.623T>G (p.Ile208Ser)
7g.138733055A>GCA369379424ATP6V0A4c.1730T>C (p.Ile577Thr)
c.956T>C (p.Ile319Thr)
c.623T>C (p.Ile208Thr)
7g.138733055A>TCA369379426ATP6V0A4c.1730T>A (p.Ile577Asn)
c.956T>A (p.Ile319Asn)
c.623T>A (p.Ile208Asn)
7g.138733055_138733056delinsATCA1746776887ATP6V0A4c.1729_1730delinsAT (p.Ile577=)
c.955_956delinsAT (p.Ile319=)
c.622_623delinsAT (p.Ile208=)
7g.138733056delCA913189644ATP6V0A4c.1729del (p.Ile577SerfsTer4)
c.955del (p.Ile319SerfsTer4)
c.622del (p.Ile208SerfsTer4)
 ClinVar dbSNP
7g.138733056T>ACA369379427ATP6V0A4c.1729A>T (p.Ile577Phe)
c.955A>T (p.Ile319Phe)
c.622A>T (p.Ile208Phe)
7g.138733056T>CCA369379429ATP6V0A4c.1729A>G (p.Ile577Val)
c.955A>G (p.Ile319Val)
c.622A>G (p.Ile208Val)
7g.138733056T>GCA369379428ATP6V0A4c.1729A>C (p.Ile577Leu)
c.955A>C (p.Ile319Leu)
c.622A>C (p.Ile208Leu)
 gnomAD v4
7g.138733057A>CCA369379430ATP6V0A4c.1728T>G (p.Phe576Leu)
c.954T>G (p.Phe318Leu)
c.621T>G (p.Phe207Leu)
7g.138733057A>GCA458150278ATP6V0A4c.1728T>C (p.Phe576=)
c.954T>C (p.Phe318=)
c.621T>C (p.Phe207=)
7g.138733057A>TCA369379431ATP6V0A4c.1728T>A (p.Phe576Leu)
c.954T>A (p.Phe318Leu)
c.621T>A (p.Phe207Leu)
7g.138733058A=CA1746776888ATP6V0A4c.1727T= (p.Phe576=)
c.953T= (p.Phe318=)
c.620T= (p.Phe207=)
7g.138733058A>CCA369379432ATP6V0A4c.1727T>G (p.Phe576Cys)
c.953T>G (p.Phe318Cys)
c.620T>G (p.Phe207Cys)
7g.138733058A>GCA369379433ATP6V0A4c.1727T>C (p.Phe576Ser)
c.953T>C (p.Phe318Ser)
c.620T>C (p.Phe207Ser)
7g.138733058A>TCA369379434ATP6V0A4c.1727T>A (p.Phe576Tyr)
c.953T>A (p.Phe318Tyr)
c.620T>A (p.Phe207Tyr)
 dbSNP gnomAD v2 gnomAD v4
7g.138733059A>CCA369379435ATP6V0A4c.1726T>G (p.Phe576Val)
c.952T>G (p.Phe318Val)
c.619T>G (p.Phe207Val)
7g.138733059A>GCA369379436ATP6V0A4c.1726T>C (p.Phe576Leu)
c.952T>C (p.Phe318Leu)
c.619T>C (p.Phe207Leu)
7g.138733059A>TCA369379437ATP6V0A4c.1726T>A (p.Phe576Ile)
c.952T>A (p.Phe318Ile)
c.619T>A (p.Phe207Ile)
7g.138733060T>ACA369379438ATP6V0A4c.1725A>T (p.Gln575His)
c.951A>T (p.Gln317His)
c.618A>T (p.Gln206His)
7g.138733060T>CCA4504662ATP6V0A4c.1725A>G (p.Gln575=)
c.951A>G (p.Gln317=)
c.618A>G (p.Gln206=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.138733060T>GCA369379439ATP6V0A4c.1725A>C (p.Gln575His)
c.951A>C (p.Gln317His)
c.618A>C (p.Gln206His)
7g.138733060T=CA1746776889ATP6V0A4c.1725A= (p.Gln575=)
c.951A= (p.Gln317=)
c.618A= (p.Gln206=)
7g.138733061T>ACA369379440ATP6V0A4c.1724A>T (p.Gln575Leu)
c.950A>T (p.Gln317Leu)
c.617A>T (p.Gln206Leu)
7g.138733061T>CCA369379441ATP6V0A4c.1724A>G (p.Gln575Arg)
c.950A>G (p.Gln317Arg)
c.617A>G (p.Gln206Arg)
 gnomAD v4
7g.138733061T>GCA369379442ATP6V0A4c.1724A>C (p.Gln575Pro)
c.950A>C (p.Gln317Pro)
c.617A>C (p.Gln206Pro)
7g.138733062G>ACA369379445ATP6V0A4c.1723C>T (p.Gln575Ter)
c.949C>T (p.Gln317Ter)
c.616C>T (p.Gln206Ter)
 dbSNP gnomAD v3 gnomAD v4
7g.138733062G>CCA369379443ATP6V0A4c.1723C>G (p.Gln575Glu)
c.949C>G (p.Gln317Glu)
c.616C>G (p.Gln206Glu)
7g.138733062G=CA1746776890ATP6V0A4c.1723C= (p.Gln575=)
c.949C= (p.Gln317=)
c.616C= (p.Gln206=)
7g.138733062G>TCA369379444ATP6V0A4c.1723C>A (p.Gln575Lys)
c.949C>A (p.Gln317Lys)
c.616C>A (p.Gln206Lys)
7g.138733063C>ACA458150293ATP6V0A4c.1722G>T (p.Leu574=)
c.948G>T (p.Leu316=)
c.615G>T (p.Leu205=)
7g.138733063C>GCA458150295ATP6V0A4c.1722G>C (p.Leu574=)
c.948G>C (p.Leu316=)
c.615G>C (p.Leu205=)
7g.138733063C>TCA458150296ATP6V0A4c.1722G>A (p.Leu574=)
c.948G>A (p.Leu316=)
c.615G>A (p.Leu205=)
 gnomAD v4
7g.138733064A>CCA369379446ATP6V0A4c.1721T>G (p.Leu574Arg)
c.947T>G (p.Leu316Arg)
c.614T>G (p.Leu205Arg)
7g.138733064A>GCA369379447ATP6V0A4c.1721T>C (p.Leu574Pro)
c.947T>C (p.Leu316Pro)
c.614T>C (p.Leu205Pro)
7g.138733064A>TCA369379448ATP6V0A4c.1721T>A (p.Leu574Gln)
c.947T>A (p.Leu316Gln)
c.614T>A (p.Leu205Gln)
7g.138733065G>ACA458150302ATP6V0A4c.1720C>T (p.Leu574=)
c.946C>T (p.Leu316=)
c.613C>T (p.Leu205=)
7g.138733065G>CCA369379449ATP6V0A4c.1720C>G (p.Leu574Val)
c.946C>G (p.Leu316Val)
c.613C>G (p.Leu205Val)
7g.138733065G>TCA369379450ATP6V0A4c.1720C>A (p.Leu574Met)
c.946C>A (p.Leu316Met)
c.613C>A (p.Leu205Met)
7g.138733066_138733072dupCA2685127695ATP6V0A4c.1714_1720dup (p.Leu574HisfsTer8)
c.940_946dup (p.Leu316HisfsTer8)
c.607_613dup (p.Leu205HisfsTer8)
 gnomAD v4
7g.138733066A=CA1746776891ATP6V0A4c.1719T= (p.Ile573=)
c.945T= (p.Ile315=)
c.612T= (p.Ile204=)
7g.138733066A>CCA369379451ATP6V0A4c.1719T>G (p.Ile573Met)
c.945T>G (p.Ile315Met)
c.612T>G (p.Ile204Met)
7g.138733066A>GCA4504663ATP6V0A4c.1719T>C (p.Ile573=)
c.945T>C (p.Ile315=)
c.612T>C (p.Ile204=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.138733066A>TCA458150304ATP6V0A4c.1719T>A (p.Ile573=)
c.945T>A (p.Ile315=)
c.612T>A (p.Ile204=)
7g.138733067A>CCA369379452ATP6V0A4c.1718T>G (p.Ile573Ser)
c.944T>G (p.Ile315Ser)
c.611T>G (p.Ile204Ser)
7g.138733067A>GCA369379453ATP6V0A4c.1718T>C (p.Ile573Thr)
c.944T>C (p.Ile315Thr)
c.611T>C (p.Ile204Thr)
7g.138733067A>TCA369379454ATP6V0A4c.1718T>A (p.Ile573Asn)
c.944T>A (p.Ile315Asn)
c.611T>A (p.Ile204Asn)
7g.138733068T>ACA369379456ATP6V0A4c.1717A>T (p.Ile573Phe)
c.943A>T (p.Ile315Phe)
c.610A>T (p.Ile204Phe)
7g.138733068T>CCA4504664ATP6V0A4c.1717A>G (p.Ile573Val)
c.943A>G (p.Ile315Val)
c.610A>G (p.Ile204Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.138733068T>GCA369379455ATP6V0A4c.1717A>C (p.Ile573Leu)
c.943A>C (p.Ile315Leu)
c.610A>C (p.Ile204Leu)
7g.138733068T=CA1746776892ATP6V0A4c.1717A= (p.Ile573=)
c.943A= (p.Ile315=)
c.610A= (p.Ile204=)
7g.138733069G>ACA458150306ATP6V0A4c.1716C>T (p.Ile572=)
c.942C>T (p.Ile314=)
c.609C>T (p.Ile203=)
 gnomAD v4
7g.138733069G>CCA369379457ATP6V0A4c.1716C>G (p.Ile572Met)
c.942C>G (p.Ile314Met)
c.609C>G (p.Ile203Met)
7g.138733069G>TCA458150307ATP6V0A4c.1716C>A (p.Ile572=)
c.942C>A (p.Ile314=)
c.609C>A (p.Ile203=)
7g.138733070A>CCA369379458ATP6V0A4c.1715T>G (p.Ile572Ser)
c.941T>G (p.Ile314Ser)
c.608T>G (p.Ile203Ser)
7g.138733070A>GCA369379459ATP6V0A4c.1715T>C (p.Ile572Thr)
c.941T>C (p.Ile314Thr)
c.608T>C (p.Ile203Thr)
7g.138733070A>TCA369379460ATP6V0A4c.1715T>A (p.Ile572Asn)
c.941T>A (p.Ile314Asn)
c.608T>A (p.Ile203Asn)
7g.138733071T>ACA369379461ATP6V0A4c.1714A>T (p.Ile572Phe)
c.940A>T (p.Ile314Phe)
c.607A>T (p.Ile203Phe)
7g.138733071T>CCA369379462ATP6V0A4c.1714A>G (p.Ile572Val)
c.940A>G (p.Ile314Val)
c.607A>G (p.Ile203Val)
7g.138733071T>GCA369379463ATP6V0A4c.1714A>C (p.Ile572Leu)
c.940A>C (p.Ile314Leu)
c.607A>C (p.Ile203Leu)
7g.138733072G>ACA458150309ATP6V0A4c.1713C>T (p.Asn571=)
c.939C>T (p.Asn313=)
c.606C>T (p.Asn202=)
 gnomAD v4
7g.138733072G>CCA369379464ATP6V0A4c.1713C>G (p.Asn571Lys)
c.939C>G (p.Asn313Lys)
c.606C>G (p.Asn202Lys)
7g.138733072G>TCA369379465ATP6V0A4c.1713C>A (p.Asn571Lys)
c.939C>A (p.Asn313Lys)
c.606C>A (p.Asn202Lys)
7g.138733073T>ACA369379466ATP6V0A4c.1712A>T (p.Asn571Ile)
c.938A>T (p.Asn313Ile)
c.605A>T (p.Asn202Ile)
 gnomAD v4
7g.138733073T>CCA369379467ATP6V0A4c.1712A>G (p.Asn571Ser)
c.938A>G (p.Asn313Ser)
c.605A>G (p.Asn202Ser)
 dbSNP gnomAD v4
7g.138733073T>GCA369379468ATP6V0A4c.1712A>C (p.Asn571Thr)
c.938A>C (p.Asn313Thr)
c.605A>C (p.Asn202Thr)
7g.138733073T=CA1746776893ATP6V0A4c.1712A= (p.Asn571=)
c.938A= (p.Asn313=)
c.605A= (p.Asn202=)
7g.138733074T>ACA369379470ATP6V0A4c.1711A>T (p.Asn571Tyr)
c.937A>T (p.Asn313Tyr)
c.604A>T (p.Asn202Tyr)
7g.138733074T>CCA167133199ATP6V0A4c.1711A>G (p.Asn571Asp)
c.937A>G (p.Asn313Asp)
c.604A>G (p.Asn202Asp)
 dbSNP
7g.138733074T>GCA369379469ATP6V0A4c.1711A>C (p.Asn571His)
c.937A>C (p.Asn313His)
c.604A>C (p.Asn202His)
7g.138733074T=CA1746776894ATP6V0A4c.1711A= (p.Asn571=)
c.937A= (p.Asn313=)
c.604A= (p.Asn202=)
7g.138733075G>ACA458150312ATP6V0A4c.1710C>T (p.Leu570=)
c.936C>T (p.Leu312=)
c.603C>T (p.Leu201=)
 dbSNP
7g.138733075G>CCA458150313ATP6V0A4c.1710C>G (p.Leu570=)
c.936C>G (p.Leu312=)
c.603C>G (p.Leu201=)
7g.138733075G>TCA458150314ATP6V0A4c.1710C>A (p.Leu570=)
c.936C>A (p.Leu312=)
c.603C>A (p.Leu201=)
7g.138733076A>CCA369379471ATP6V0A4c.1709T>G (p.Leu570Arg)
c.935T>G (p.Leu312Arg)
c.602T>G (p.Leu201Arg)
7g.138733076A>GCA369379472ATP6V0A4c.1709T>C (p.Leu570Pro)
c.935T>C (p.Leu312Pro)
c.602T>C (p.Leu201Pro)
7g.138733076A>TCA369379473ATP6V0A4c.1709T>A (p.Leu570His)
c.935T>A (p.Leu312His)
c.602T>A (p.Leu201His)
7g.138733077G>ACA167133204ATP6V0A4c.1708C>T (p.Leu570Phe)
c.934C>T (p.Leu312Phe)
c.601C>T (p.Leu201Phe)
 dbSNP gnomAD v2 gnomAD v4
7g.138733077G>CCA369379474ATP6V0A4c.1708C>G (p.Leu570Val)
c.934C>G (p.Leu312Val)
c.601C>G (p.Leu201Val)
7g.138733077G=CA1746776895ATP6V0A4c.1708C= (p.Leu570=)
c.934C= (p.Leu312=)
c.601C= (p.Leu201=)
7g.138733077G>TCA369379475ATP6V0A4c.1708C>A (p.Leu570Ile)
c.934C>A (p.Leu312Ile)
c.601C>A (p.Leu201Ile)
7g.138733078A=CA1746776896ATP6V0A4c.1707T= (p.Thr569=)
c.933T= (p.Thr311=)
c.600T= (p.Thr200=)
7g.138733078A>CCA458150320ATP6V0A4c.1707T>G (p.Thr569=)
c.933T>G (p.Thr311=)
c.600T>G (p.Thr200=)
7g.138733078A>GCA458150318ATP6V0A4c.1707T>C (p.Thr569=)
c.933T>C (p.Thr311=)
c.600T>C (p.Thr200=)
7g.138733078A>TCA458150316ATP6V0A4c.1707T>A (p.Thr569=)
c.933T>A (p.Thr311=)
c.600T>A (p.Thr200=)
 dbSNP
7g.138733079G>ACA369379476ATP6V0A4c.1706C>T (p.Thr569Ile)
c.932C>T (p.Thr311Ile)
c.599C>T (p.Thr200Ile)
7g.138733079G>CCA369379477ATP6V0A4c.1706C>G (p.Thr569Ser)
c.932C>G (p.Thr311Ser)
c.599C>G (p.Thr200Ser)
7g.138733079G>TCA369379478ATP6V0A4c.1706C>A (p.Thr569Asn)
c.932C>A (p.Thr311Asn)
c.599C>A (p.Thr200Asn)
7g.138733080T>ACA369379479ATP6V0A4c.1705A>T (p.Thr569Ser)
c.931A>T (p.Thr311Ser)
c.598A>T (p.Thr200Ser)
7g.138733080T>CCA369379480ATP6V0A4c.1705A>G (p.Thr569Ala)
c.931A>G (p.Thr311Ala)
c.598A>G (p.Thr200Ala)
7g.138733080T>GCA369379481ATP6V0A4c.1705A>C (p.Thr569Pro)
c.931A>C (p.Thr311Pro)
c.598A>C (p.Thr200Pro)
7g.138733081T>ACA369379483ATP6V0A4c.1704A>T (p.Arg568Ser)
c.930A>T (p.Arg310Ser)
c.597A>T (p.Arg199Ser)
 gnomAD v4
7g.138733081T>CCA458150325ATP6V0A4c.1704A>G (p.Arg568=)
c.930A>G (p.Arg310=)
c.597A>G (p.Arg199=)
 dbSNP gnomAD v2 gnomAD v4
7g.138733081T>GCA369379482ATP6V0A4c.1704A>C (p.Arg568Ser)
c.930A>C (p.Arg310Ser)
c.597A>C (p.Arg199Ser)
7g.138733081T=CA1746776898ATP6V0A4c.1704A= (p.Arg568=)
c.930A= (p.Arg310=)
c.597A= (p.Arg199=)
7g.138733081_138733082delinsTCCA1746776897ATP6V0A4c.1703_1704delinsGA (p.Arg568=)
c.929_930delinsGA (p.Arg310=)
c.596_597delinsGA (p.Arg199=)

Number of alleles fetched