Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.138732945T>ACA369378959ATP6V0A4c.1840A>T (p.Ile614Phe)
c.1066A>T (p.Ile356Phe)
c.733A>T (p.Ile245Phe)
7g.138732945T>CCA369378962ATP6V0A4c.1840A>G (p.Ile614Val)
c.1066A>G (p.Ile356Val)
c.733A>G (p.Ile245Val)
7g.138732945T>GCA4504641ATP6V0A4c.1840A>C (p.Ile614Leu)
c.1066A>C (p.Ile356Leu)
c.733A>C (p.Ile245Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.138732945T=CA1746776846ATP6V0A4c.1840A= (p.Ile614=)
c.1066A= (p.Ile356=)
c.733A= (p.Ile245=)
7g.138732946G>ACA4504642ATP6V0A4c.1839C>T (p.Leu613=)
c.1065C>T (p.Leu355=)
c.732C>T (p.Leu244=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.138732946G>CCA458150212ATP6V0A4c.1839C>G (p.Leu613=)
c.1065C>G (p.Leu355=)
c.732C>G (p.Leu244=)
7g.138732946G=CA1746776847ATP6V0A4c.1839C= (p.Leu613=)
c.1065C= (p.Leu355=)
c.732C= (p.Leu244=)
7g.138732946G>TCA458150213ATP6V0A4c.1839C>A (p.Leu613=)
c.1065C>A (p.Leu355=)
c.732C>A (p.Leu244=)
7g.138732947A>CCA369378969ATP6V0A4c.1838T>G (p.Leu613Arg)
c.1064T>G (p.Leu355Arg)
c.731T>G (p.Leu244Arg)
7g.138732947A>GCA369378971ATP6V0A4c.1838T>C (p.Leu613Pro)
c.1064T>C (p.Leu355Pro)
c.731T>C (p.Leu244Pro)
7g.138732947A>TCA369378974ATP6V0A4c.1838T>A (p.Leu613His)
c.1064T>A (p.Leu355His)
c.731T>A (p.Leu244His)
7g.138732948G>ACA369378977ATP6V0A4c.1837C>T (p.Leu613Phe)
c.1063C>T (p.Leu355Phe)
c.730C>T (p.Leu244Phe)
7g.138732948G>CCA369378979ATP6V0A4c.1837C>G (p.Leu613Val)
c.1063C>G (p.Leu355Val)
c.730C>G (p.Leu244Val)
7g.138732948G>TCA369378981ATP6V0A4c.1837C>A (p.Leu613Ile)
c.1063C>A (p.Leu355Ile)
c.730C>A (p.Leu244Ile)
7g.138732949G>ACA458150214ATP6V0A4c.1836C>T (p.Ile612=)
c.1062C>T (p.Ile354=)
c.729C>T (p.Ile243=)
7g.138732949G>CCA369378983ATP6V0A4c.1836C>G (p.Ile612Met)
c.1062C>G (p.Ile354Met)
c.729C>G (p.Ile243Met)
7g.138732949G>TCA458150215ATP6V0A4c.1836C>A (p.Ile612=)
c.1062C>A (p.Ile354=)
c.729C>A (p.Ile243=)
7g.138732950A=CA1746776848ATP6V0A4c.1835T= (p.Ile612=)
c.1061T= (p.Ile354=)
c.728T= (p.Ile243=)
7g.138732950A>CCA369378987ATP6V0A4c.1835T>G (p.Ile612Ser)
c.1061T>G (p.Ile354Ser)
c.728T>G (p.Ile243Ser)
7g.138732950A>GCA369378990ATP6V0A4c.1835T>C (p.Ile612Thr)
c.1061T>C (p.Ile354Thr)
c.728T>C (p.Ile243Thr)
7g.138732950A>TCA369378986ATP6V0A4c.1835T>A (p.Ile612Asn)
c.1061T>A (p.Ile354Asn)
c.728T>A (p.Ile243Asn)
 dbSNP gnomAD v2 gnomAD v4
7g.138732951T>ACA369378998ATP6V0A4c.1834A>T (p.Ile612Phe)
c.1060A>T (p.Ile354Phe)
c.727A>T (p.Ile243Phe)
7g.138732951T>CCA369378993ATP6V0A4c.1834A>G (p.Ile612Val)
c.1060A>G (p.Ile354Val)
c.727A>G (p.Ile243Val)
7g.138732951T>GCA369379002ATP6V0A4c.1834A>C (p.Ile612Leu)
c.1060A>C (p.Ile354Leu)
c.727A>C (p.Ile243Leu)
7g.138732952G>ACA458150216ATP6V0A4c.1833C>T (p.Ser611=)
c.1059C>T (p.Ser353=)
c.726C>T (p.Ser242=)
 gnomAD v4
7g.138732952G>CCA369379005ATP6V0A4c.1833C>G (p.Ser611Arg)
c.1059C>G (p.Ser353Arg)
c.726C>G (p.Ser242Arg)
7g.138732952G=CA1746776849ATP6V0A4c.1833C= (p.Ser611=)
c.1059C= (p.Ser353=)
c.726C= (p.Ser242=)
7g.138732952G>TCA4504643ATP6V0A4c.1833C>A (p.Ser611Arg)
c.1059C>A (p.Ser353Arg)
c.726C>A (p.Ser242Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.138732953C>ACA369379009ATP6V0A4c.1832G>T (p.Ser611Ile)
c.1058G>T (p.Ser353Ile)
c.725G>T (p.Ser242Ile)
7g.138732953C>GCA369379011ATP6V0A4c.1832G>C (p.Ser611Thr)
c.1058G>C (p.Ser353Thr)
c.725G>C (p.Ser242Thr)
7g.138732953C>TCA369379013ATP6V0A4c.1832G>A (p.Ser611Asn)
c.1058G>A (p.Ser353Asn)
c.725G>A (p.Ser242Asn)
7g.138732953_138732954delinsACA2695208555ATP6V0A4c.1831_1832delinsT (p.Ile612SerfsTer?)
c.1057_1058delinsT (p.Ile354SerfsTer?)
c.724_725delinsT (p.Ile243SerfsTer?)
7g.138732954T>ACA369379016ATP6V0A4c.1831A>T (p.Ser611Cys)
c.1057A>T (p.Ser353Cys)
c.724A>T (p.Ser242Cys)
7g.138732954T>CCA369379017ATP6V0A4c.1831A>G (p.Ser611Gly)
c.1057A>G (p.Ser353Gly)
c.724A>G (p.Ser242Gly)
7g.138732954T>GCA369379020ATP6V0A4c.1831A>C (p.Ser611Arg)
c.1057A>C (p.Ser353Arg)
c.724A>C (p.Ser242Arg)
7g.138732955G>ACA458150219ATP6V0A4c.1830C>T (p.Pro610=)
c.1056C>T (p.Pro352=)
c.723C>T (p.Pro241=)
 gnomAD v4
7g.138732955G>CCA458150218ATP6V0A4c.1830C>G (p.Pro610=)
c.1056C>G (p.Pro352=)
c.723C>G (p.Pro241=)
7g.138732955G>TCA458150217ATP6V0A4c.1830C>A (p.Pro610=)
c.1056C>A (p.Pro352=)
c.723C>A (p.Pro241=)
7g.138732959delCA2579035692ATP6V0A4c.1830del (p.Ser611AlafsTer?)
c.1056del (p.Ser353AlafsTer?)
c.723del (p.Ser242AlafsTer?)
7g.138732956G>ACA369379024ATP6V0A4c.1829C>T (p.Pro610Leu)
c.1055C>T (p.Pro352Leu)
c.722C>T (p.Pro241Leu)
7g.138732956G>CCA369379026ATP6V0A4c.1829C>G (p.Pro610Arg)
c.1055C>G (p.Pro352Arg)
c.722C>G (p.Pro241Arg)
7g.138732956G>TCA369379029ATP6V0A4c.1829C>A (p.Pro610His)
c.1055C>A (p.Pro352His)
c.722C>A (p.Pro241His)
7g.138732957G>ACA369379036ATP6V0A4c.1828C>T (p.Pro610Ser)
c.1054C>T (p.Pro352Ser)
c.721C>T (p.Pro241Ser)
 dbSNP gnomAD v3 gnomAD v4
7g.138732957G>CCA369379035ATP6V0A4c.1828C>G (p.Pro610Ala)
c.1054C>G (p.Pro352Ala)
c.721C>G (p.Pro241Ala)
7g.138732957G=CA1746776850ATP6V0A4c.1828C= (p.Pro610=)
c.1054C= (p.Pro352=)
c.721C= (p.Pro241=)
7g.138732957G>TCA369379033ATP6V0A4c.1828C>A (p.Pro610Thr)
c.1054C>A (p.Pro352Thr)
c.721C>A (p.Pro241Thr)
7g.138732958G>ACA458150220ATP6V0A4c.1827C>T (p.Ala609=)
c.1053C>T (p.Ala351=)
c.720C>T (p.Ala240=)
7g.138732958G>CCA458150222ATP6V0A4c.1827C>G (p.Ala609=)
c.1053C>G (p.Ala351=)
c.720C>G (p.Ala240=)
7g.138732958G>TCA458150221ATP6V0A4c.1827C>A (p.Ala609=)
c.1053C>A (p.Ala351=)
c.720C>A (p.Ala240=)
 gnomAD v4
7g.138732959G>ACA167133066ATP6V0A4c.1826C>T (p.Ala609Val)
c.1052C>T (p.Ala351Val)
c.719C>T (p.Ala240Val)
 dbSNP gnomAD v4
7g.138732959G>CCA369379040ATP6V0A4c.1826C>G (p.Ala609Gly)
c.1052C>G (p.Ala351Gly)
c.719C>G (p.Ala240Gly)
7g.138732959G=CA1746776851ATP6V0A4c.1826C= (p.Ala609=)
c.1052C= (p.Ala351=)
c.719C= (p.Ala240=)
7g.138732959G>TCA369379042ATP6V0A4c.1826C>A (p.Ala609Asp)
c.1052C>A (p.Ala351Asp)
c.719C>A (p.Ala240Asp)
7g.138732960C>ACA369379045ATP6V0A4c.1825G>T (p.Ala609Ser)
c.1051G>T (p.Ala351Ser)
c.718G>T (p.Ala240Ser)
 gnomAD v4
7g.138732960C=CA1746776852ATP6V0A4c.1825G= (p.Ala609=)
c.1051G= (p.Ala351=)
c.718G= (p.Ala240=)
7g.138732960C>GCA369379048ATP6V0A4c.1825G>C (p.Ala609Pro)
c.1051G>C (p.Ala351Pro)
c.718G>C (p.Ala240Pro)
7g.138732960C>TCA4504644ATP6V0A4c.1825G>A (p.Ala609Thr)
c.1051G>A (p.Ala351Thr)
c.718G>A (p.Ala240Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.138732961G>ACA4504645ATP6V0A4c.1824C>T (p.His608=)
c.1050C>T (p.His350=)
c.717C>T (p.His239=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.138732961G>CCA369379054ATP6V0A4c.1824C>G (p.His608Gln)
c.1050C>G (p.His350Gln)
c.717C>G (p.His239Gln)
7g.138732961G=CA1746776853ATP6V0A4c.1824C= (p.His608=)
c.1050C= (p.His350=)
c.717C= (p.His239=)
7g.138732961G>TCA369379055ATP6V0A4c.1824C>A (p.His608Gln)
c.1050C>A (p.His350Gln)
c.717C>A (p.His239Gln)
7g.138732962T>ACA369379059ATP6V0A4c.1823A>T (p.His608Leu)
c.1049A>T (p.His350Leu)
c.716A>T (p.His239Leu)
7g.138732962T>CCA369379061ATP6V0A4c.1823A>G (p.His608Arg)
c.1049A>G (p.His350Arg)
c.716A>G (p.His239Arg)
7g.138732962T>GCA369379066ATP6V0A4c.1823A>C (p.His608Pro)
c.1049A>C (p.His350Pro)
c.716A>C (p.His239Pro)
7g.138732963G>ACA369379069ATP6V0A4c.1822C>T (p.His608Tyr)
c.1048C>T (p.His350Tyr)
c.715C>T (p.His239Tyr)
7g.138732963G>CCA369379071ATP6V0A4c.1822C>G (p.His608Asp)
c.1048C>G (p.His350Asp)
c.715C>G (p.His239Asp)
7g.138732963G>TCA369379068ATP6V0A4c.1822C>A (p.His608Asn)
c.1048C>A (p.His350Asn)
c.715C>A (p.His239Asn)
7g.138732964C>ACA369379074ATP6V0A4c.1821G>T (p.Gln607His)
c.1047G>T (p.Gln349His)
c.714G>T (p.Gln238His)
7g.138732964C>GCA369379077ATP6V0A4c.1821G>C (p.Gln607His)
c.1047G>C (p.Gln349His)
c.714G>C (p.Gln238His)
7g.138732964C>TCA458150223ATP6V0A4c.1821G>A (p.Gln607=)
c.1047G>A (p.Gln349=)
c.714G>A (p.Gln238=)
7g.138732965T>ACA369379080ATP6V0A4c.1820A>T (p.Gln607Leu)
c.1046A>T (p.Gln349Leu)
c.713A>T (p.Gln238Leu)
7g.138732965T>CCA369379083ATP6V0A4c.1820A>G (p.Gln607Arg)
c.1046A>G (p.Gln349Arg)
c.713A>G (p.Gln238Arg)
7g.138732965T>GCA369379085ATP6V0A4c.1820A>C (p.Gln607Pro)
c.1046A>C (p.Gln349Pro)
c.713A>C (p.Gln238Pro)
7g.138732966G>ACA369379092ATP6V0A4c.1819C>T (p.Gln607Ter)
c.1045C>T (p.Gln349Ter)
c.712C>T (p.Gln238Ter)
7g.138732966G>CCA369379090ATP6V0A4c.1819C>G (p.Gln607Glu)
c.1045C>G (p.Gln349Glu)
c.712C>G (p.Gln238Glu)
7g.138732966G>TCA369379088ATP6V0A4c.1819C>A (p.Gln607Lys)
c.1045C>A (p.Gln349Lys)
c.712C>A (p.Gln238Lys)
7g.138732967A>CCA458150224ATP6V0A4c.1818T>G (p.Ser606=)
c.1044T>G (p.Ser348=)
c.711T>G (p.Ser237=)
7g.138732967A>GCA458150225ATP6V0A4c.1818T>C (p.Ser606=)
c.1044T>C (p.Ser348=)
c.711T>C (p.Ser237=)
7g.138732967A>TCA458150226ATP6V0A4c.1818T>A (p.Ser606=)
c.1044T>A (p.Ser348=)
c.711T>A (p.Ser237=)
7g.138732968G>ACA369379095ATP6V0A4c.1817C>T (p.Ser606Phe)
c.1043C>T (p.Ser348Phe)
c.710C>T (p.Ser237Phe)
7g.138732968G>CCA369379097ATP6V0A4c.1817C>G (p.Ser606Cys)
c.1043C>G (p.Ser348Cys)
c.710C>G (p.Ser237Cys)
7g.138732968G>TCA369379098ATP6V0A4c.1817C>A (p.Ser606Tyr)
c.1043C>A (p.Ser348Tyr)
c.710C>A (p.Ser237Tyr)
7g.138732969A>CCA369379101ATP6V0A4c.1816T>G (p.Ser606Ala)
c.1042T>G (p.Ser348Ala)
c.709T>G (p.Ser237Ala)
7g.138732969A>GCA369379103ATP6V0A4c.1816T>C (p.Ser606Pro)
c.1042T>C (p.Ser348Pro)
c.709T>C (p.Ser237Pro)
7g.138732969A>TCA369379106ATP6V0A4c.1816T>A (p.Ser606Thr)
c.1042T>A (p.Ser348Thr)
c.709T>A (p.Ser237Thr)
7g.138732970T>ACA458150227ATP6V0A4c.1815A>T (p.Val605=)
c.1041A>T (p.Val347=)
c.708A>T (p.Val236=)
 gnomAD v4
7g.138732970T>CCA458150228ATP6V0A4c.1815A>G (p.Val605=)
c.1041A>G (p.Val347=)
c.708A>G (p.Val236=)
 dbSNP gnomAD v2
7g.138732970T>GCA458150229ATP6V0A4c.1815A>C (p.Val605=)
c.1041A>C (p.Val347=)
c.708A>C (p.Val236=)
7g.138732970T=CA1746776854ATP6V0A4c.1815A= (p.Val605=)
c.1041A= (p.Val347=)
c.708A= (p.Val236=)
7g.138732971A>CCA369379110ATP6V0A4c.1814T>G (p.Val605Gly)
c.1040T>G (p.Val347Gly)
c.707T>G (p.Val236Gly)
7g.138732971A>GCA369379116ATP6V0A4c.1814T>C (p.Val605Ala)
c.1040T>C (p.Val347Ala)
c.707T>C (p.Val236Ala)
7g.138732971A>TCA369379113ATP6V0A4c.1814T>A (p.Val605Glu)
c.1040T>A (p.Val347Glu)
c.707T>A (p.Val236Glu)
 gnomAD v4
7g.138732972C>ACA369379119ATP6V0A4c.1813G>T (p.Val605Leu)
c.1039G>T (p.Val347Leu)
c.706G>T (p.Val236Leu)
7g.138732972C=CA1746776855ATP6V0A4c.1813G= (p.Val605=)
c.1039G= (p.Val347=)
c.706G= (p.Val236=)
7g.138732972C>GCA4504647ATP6V0A4c.1813G>C (p.Val605Leu)
c.1039G>C (p.Val347Leu)
c.706G>C (p.Val236Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.138732972C>TCA4504646ATP6V0A4c.1813G>A (p.Val605Ile)
c.1039G>A (p.Val347Ile)
c.706G>A (p.Val236Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.138732973A=CA1746776856ATP6V0A4c.1812T= (p.His604=)
c.1038T= (p.His346=)
c.705T= (p.His235=)
7g.138732973A>CCA369379126ATP6V0A4c.1812T>G (p.His604Gln)
c.1038T>G (p.His346Gln)
c.705T>G (p.His235Gln)
7g.138732973A>GCA4504648ATP6V0A4c.1812T>C (p.His604=)
c.1038T>C (p.His346=)
c.705T>C (p.His235=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.138732973A>TCA369379128ATP6V0A4c.1812T>A (p.His604Gln)
c.1038T>A (p.His346Gln)
c.705T>A (p.His235Gln)
7g.138732974T>ACA369379133ATP6V0A4c.1811A>T (p.His604Leu)
c.1037A>T (p.His346Leu)
c.704A>T (p.His235Leu)
7g.138732974T>CCA4504649ATP6V0A4c.1811A>G (p.His604Arg)
c.1037A>G (p.His346Arg)
c.704A>G (p.His235Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.138732974T>GCA369379139ATP6V0A4c.1811A>C (p.His604Pro)
c.1037A>C (p.His346Pro)
c.704A>C (p.His235Pro)
7g.138732974T=CA1746776857ATP6V0A4c.1811A= (p.His604=)
c.1037A= (p.His346=)
c.704A= (p.His235=)
7g.138732975G>ACA369379143ATP6V0A4c.1810C>T (p.His604Tyr)
c.1036C>T (p.His346Tyr)
c.703C>T (p.His235Tyr)
7g.138732975G>CCA369379145ATP6V0A4c.1810C>G (p.His604Asp)
c.1036C>G (p.His346Asp)
c.703C>G (p.His235Asp)
7g.138732975G>TCA369379146ATP6V0A4c.1810C>A (p.His604Asn)
c.1036C>A (p.His346Asn)
c.703C>A (p.His235Asn)
 COSMIC
7g.138732976G>ACA458150230ATP6V0A4c.1809C>T (p.Val603=)
c.1035C>T (p.Val345=)
c.702C>T (p.Val234=)
7g.138732976G>CCA458150231ATP6V0A4c.1809C>G (p.Val603=)
c.1035C>G (p.Val345=)
c.702C>G (p.Val234=)
7g.138732976G>TCA458150232ATP6V0A4c.1809C>A (p.Val603=)
c.1035C>A (p.Val345=)
c.702C>A (p.Val234=)
7g.138732977A>CCA369379152ATP6V0A4c.1808T>G (p.Val603Gly)
c.1034T>G (p.Val345Gly)
c.701T>G (p.Val234Gly)
7g.138732977A>GCA369379150ATP6V0A4c.1808T>C (p.Val603Ala)
c.1034T>C (p.Val345Ala)
c.701T>C (p.Val234Ala)
 gnomAD v4
7g.138732977A>TCA369379147ATP6V0A4c.1808T>A (p.Val603Asp)
c.1034T>A (p.Val345Asp)
c.701T>A (p.Val234Asp)
7g.138732978C>ACA369379155ATP6V0A4c.1807G>T (p.Val603Phe)
c.1033G>T (p.Val345Phe)
c.700G>T (p.Val234Phe)
7g.138732978C=CA1746776858ATP6V0A4c.1807G= (p.Val603=)
c.1033G= (p.Val345=)
c.700G= (p.Val234=)
7g.138732978C>GCA4504651ATP6V0A4c.1807G>C (p.Val603Leu)
c.1033G>C (p.Val345Leu)
c.700G>C (p.Val234Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.138732978C>TCA4504650ATP6V0A4c.1807G>A (p.Val603Ile)
c.1033G>A (p.Val345Ile)
c.700G>A (p.Val234Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.138732979G>ACA4504652ATP6V0A4c.1806C>T (p.Asp602=)
c.1032C>T (p.Asp344=)
c.699C>T (p.Asp233=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.138732979G>CCA369379160ATP6V0A4c.1806C>G (p.Asp602Glu)
c.1032C>G (p.Asp344Glu)
c.699C>G (p.Asp233Glu)
7g.138732979G=CA1746776859ATP6V0A4c.1806C= (p.Asp602=)
c.1032C= (p.Asp344=)
c.699C= (p.Asp233=)
7g.138732979G>TCA369379162ATP6V0A4c.1806C>A (p.Asp602Glu)
c.1032C>A (p.Asp344Glu)
c.699C>A (p.Asp233Glu)
7g.138732980T>ACA369379164ATP6V0A4c.1805A>T (p.Asp602Val)
c.1031A>T (p.Asp344Val)
c.698A>T (p.Asp233Val)
7g.138732980T>CCA369379166ATP6V0A4c.1805A>G (p.Asp602Gly)
c.1031A>G (p.Asp344Gly)
c.698A>G (p.Asp233Gly)
7g.138732980T>GCA369379168ATP6V0A4c.1805A>C (p.Asp602Ala)
c.1031A>C (p.Asp344Ala)
c.698A>C (p.Asp233Ala)
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

Number of alleles fetched