Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.17005454G>ACA637732ATP13A2c.208C>T (p.Leu70=)
c.227C>T (p.Pro76Leu)
c.185C>T
c.134C>T
c.-639C>T (n.-639C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17005454G>CCA338264439ATP13A2c.208C>G (p.Leu70Val)
c.227C>G (p.Pro76Arg)
c.185C>G
c.134C>G
c.-639C>G (n.-639C>G)
1g.17005454G=CA1156068466ATP13A2c.208C= (p.Leu70=)
c.227C= (p.Pro76=)
c.185C=
c.134C=
c.-639C= (n.-639C=)
1g.17005454G>TCA338264441ATP13A2c.208C>A (p.Leu70Met)
c.227C>A (p.Pro76His)
c.185C>A
c.134C>A
c.-639C>A (n.-639C>A)
1g.17005455G>ACA416075194ATP13A2c.207C>T (p.Pro69=)
c.226C>T (p.Pro76Ser)
c.184C>T
c.133C>T
c.-640C>T (n.-640C>T)
 dbSNP
1g.17005455G>CCA416075196ATP13A2c.207C>G (p.Pro69=)
c.226C>G (p.Pro76Ala)
c.184C>G
c.133C>G
c.-640C>G (n.-640C>G)
 gnomAD v4
1g.17005455G=CA1156068468ATP13A2c.207C= (p.Pro69=)
c.226C= (p.Pro76=)
c.184C=
c.133C=
c.-640C= (n.-640C=)
1g.17005455G>TCA416075198ATP13A2c.207C>A (p.Pro69=)
c.226C>A (p.Pro76Thr)
c.184C>A
c.133C>A
c.-640C>A (n.-640C>A)
1g.17005456G>ACA338264461ATP13A2c.206C>T (p.Pro69Leu)
c.225C>T (p.Ala75=)
c.183C>T
c.132C>T
c.-641C>T (n.-641C>T)
1g.17005456G>CCA338264462ATP13A2c.206C>G (p.Pro69Arg)
c.225C>G (p.Ala75=)
c.183C>G
c.132C>G
c.-641C>G (n.-641C>G)
1g.17005456G>TCA338264463ATP13A2c.206C>A (p.Pro69His)
c.225C>A (p.Ala75=)
c.183C>A
c.132C>A
c.-641C>A (n.-641C>A)
1g.17005457G>ACA338264465ATP13A2c.205C>T (p.Pro69Ser)
c.224C>T (p.Ala75Val)
c.182C>T
c.131C>T
c.-642C>T (n.-642C>T)
1g.17005457G>CCA338264474ATP13A2c.205C>G (p.Pro69Ala)
c.224C>G (p.Ala75Gly)
c.182C>G
c.131C>G
c.-642C>G (n.-642C>G)
1g.17005457G>TCA338264477ATP13A2c.205C>A (p.Pro69Thr)
c.224C>A (p.Ala75Asp)
c.182C>A
c.131C>A
c.-642C>A (n.-642C>A)
1g.17005458C>ACA338264481ATP13A2c.204G>T (p.Lys68Asn)
c.223G>T (p.Ala75Ser)
c.181G>T
c.130G>T
c.-643G>T (n.-643G>T)
 COSMIC COSMIC
1g.17005458C>GCA338264480ATP13A2c.204G>C (p.Lys68Asn)
c.223G>C (p.Ala75Pro)
c.181G>C
c.130G>C
c.-643G>C (n.-643G>C)
1g.17005458C>TCA416075203ATP13A2c.204G>A (p.Lys68=)
c.223G>A (p.Ala75Thr)
c.181G>A
c.130G>A
c.-643G>A (n.-643G>A)
1g.17005459T>ACA338264482ATP13A2c.203A>T (p.Lys68Met)
c.222A>T (p.Glu74Asp)
c.180A>T
c.129A>T
c.-644A>T (n.-644A>T)
1g.17005459T>CCA338264483ATP13A2c.203A>G (p.Lys68Arg)
c.222A>G (p.Glu74=)
c.180A>G
c.129A>G
c.-644A>G (n.-644A>G)
1g.17005459T>GCA338264485ATP13A2c.203A>C (p.Lys68Thr)
c.222A>C (p.Glu74Asp)
c.180A>C
c.129A>C
c.-644A>C (n.-644A>C)
1g.17005460T>ACA338264488ATP13A2c.202A>T (p.Lys68Ter)
c.221A>T (p.Glu74Val)
c.179A>T
c.128A>T
c.-645A>T (n.-645A>T)
1g.17005460T>CCA637733ATP13A2c.202A>G (p.Lys68Glu)
c.221A>G (p.Glu74Gly)
c.179A>G
c.128A>G
c.-645A>G (n.-645A>G)
 dbSNP ExAC
1g.17005460T>GCA338264492ATP13A2c.202A>C (p.Lys68Gln)
c.221A>C (p.Glu74Ala)
c.179A>C
c.128A>C
c.-645A>C (n.-645A>C)
 COSMIC COSMIC
1g.17005460T=CA1156068469ATP13A2c.202A= (p.Lys68=)
c.221A= (p.Glu74=)
c.179A=
c.128A=
c.-645A= (n.-645A=)
1g.17005461C>ACA338264497ATP13A2c.201G>T (p.Trp67Cys)
c.220G>T (p.Glu74Ter)
c.178G>T
c.127G>T
c.-646G>T (n.-646G>T)
1g.17005461C>GCA338264494ATP13A2c.201G>C (p.Trp67Cys)
c.220G>C (p.Glu74Gln)
c.178G>C
c.127G>C
c.-646G>C (n.-646G>C)
1g.17005461C>TCA338264496ATP13A2c.201G>A (p.Trp67Ter)
c.220G>A (p.Glu74Lys)
c.178G>A
c.127G>A
c.-646G>A (n.-646G>A)
1g.17005462C>ACA338264500ATP13A2c.200G>T (p.Trp67Leu)
c.219G>T (p.Leu73Phe)
c.177G>T
c.126G>T
c.-647G>T (n.-647G>T)
1g.17005462C>GCA338264503ATP13A2c.200G>C (p.Trp67Ser)
c.219G>C (p.Leu73Phe)
c.177G>C
c.126G>C
c.-647G>C (n.-647G>C)
1g.17005462C>TCA338264511ATP13A2c.200G>A (p.Trp67Ter)
c.219G>A (p.Leu73=)
c.177G>A
c.126G>A
c.-647G>A (n.-647G>A)
 COSMIC COSMIC
1g.17005463A>CCA338264516ATP13A2c.199T>G (p.Trp67Gly)
c.218T>G (p.Leu73Trp)
c.176T>G
c.125T>G
c.-648T>G (n.-648T>G)
1g.17005463A>GCA338264518ATP13A2c.199T>C (p.Trp67Arg)
c.218T>C (p.Leu73Ser)
c.176T>C
c.125T>C
c.-648T>C (n.-648T>C)
1g.17005463A>TCA338264519ATP13A2c.199T>A (p.Trp67Arg)
c.218T>A (p.Leu73Ter)
c.176T>A
c.125T>A
c.-648T>A (n.-648T>A)
1g.17005464A>CCA416075228ATP13A2c.198T>G (p.Arg66=)
c.217T>G (p.Leu73Val)
c.175T>G
c.124T>G
c.-649T>G (n.-649T>G)
1g.17005464A>GCA416075229ATP13A2c.198T>C (p.Arg66=)
c.217T>C (p.Leu73=)
c.175T>C
c.124T>C
c.-649T>C (n.-649T>C)
 gnomAD v4
1g.17005464A>TCA416075231ATP13A2c.198T>A (p.Arg66=)
c.217T>A (p.Leu73Met)
c.175T>A
c.124T>A
c.-649T>A (n.-649T>A)
1g.17005465C>ACA338264522ATP13A2c.197G>T (p.Arg66Leu)
c.216G>T (p.Pro72=)
c.174G>T
c.123G>T
c.-650G>T (n.-650G>T)
1g.17005465C=CA1143551593ATP13A2c.197G= (p.Arg66=)
c.216G= (p.Pro72=)
c.174G=
c.123G=
c.-650G= (n.-650G=)
1g.17005465C>GCA338264528ATP13A2c.197G>C (p.Arg66Pro)
c.216G>C (p.Pro72=)
c.174G>C
c.123G>C
c.-650G>C (n.-650G>C)
1g.17005465C>TCA637734ATP13A2c.197G>A (p.Arg66His)
c.216G>A (p.Pro72=)
c.174G>A
c.123G>A
c.-650G>A (n.-650G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17005466G>ACA338264536ATP13A2c.196C>T (p.Arg66Cys)
c.215C>T (p.Pro72Leu)
c.173C>T
c.122C>T
c.-651C>T (n.-651C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.17005466G>CCA637735ATP13A2c.196C>G (p.Arg66Gly)
c.215C>G (p.Pro72Arg)
c.173C>G
c.122C>G
c.-651C>G (n.-651C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.17005466G=CA1156068473ATP13A2c.196C= (p.Arg66=)
c.215C= (p.Pro72=)
c.173C=
c.122C=
c.-651C= (n.-651C=)
1g.17005466G>TCA338264541ATP13A2c.196C>A (p.Arg66Ser)
c.215C>A (p.Pro72Gln)
c.173C>A
c.122C>A
c.-651C>A (n.-651C>A)
1g.17005466_17005478delinsGGAAGAGCAGCAACA1156068474ATP13A2c.184_196delinsTTGCTGCTCTTCC (p.Leu62=)
c.203_215delinsTTGCTGCTCTTCC (p.Phe68=)
c.161_173delinsTTGCTGCTCTTCC
c.110_122delinsTTGCTGCTCTTCC
c.-663_-651delinsTTGCTGCTCTTCC (n.-663_-651delinsTTGCTGCTCTTCC)
1g.17005467G>ACA637736ATP13A2c.195C>T (p.Phe65=)
c.214C>T (p.Pro72Ser)
c.172C>T
c.121C>T
c.-652C>T (n.-652C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17005467G>CCA338264559ATP13A2c.195C>G (p.Phe65Leu)
c.214C>G (p.Pro72Ala)
c.172C>G
c.121C>G
c.-652C>G (n.-652C>G)
 dbSNP
1g.17005467G=CA1143490349ATP13A2c.195C= (p.Phe65=)
c.214C= (p.Pro72=)
c.172C=
c.121C=
c.-652C= (n.-652C=)
1g.17005467G>TCA338264561ATP13A2c.195C>A (p.Phe65Leu)
c.214C>A (p.Pro72Thr)
c.172C>A
c.121C>A
c.-652C>A (n.-652C>A)
1g.17005467_17005478delCA521449972ATP13A2c.184_195del (p.Leu62_Phe65del)
c.203_214del (p.Phe68_Pro72delinsSer)
c.161_172del
c.110_121del
c.-663_-652del (n.-663_-652del)
 dbSNP gnomAD v2 gnomAD v4
1g.17005468A>CCA338264566ATP13A2c.194T>G (p.Phe65Cys)
c.213T>G (p.Leu71=)
c.171T>G
c.120T>G
c.-653T>G (n.-653T>G)
 gnomAD v4
1g.17005468A>GCA338264583ATP13A2c.194T>C (p.Phe65Ser)
c.213T>C (p.Leu71=)
c.171T>C
c.120T>C
c.-653T>C (n.-653T>C)
1g.17005468A>TCA338264576ATP13A2c.194T>A (p.Phe65Tyr)
c.213T>A (p.Leu71=)
c.171T>A
c.120T>A
c.-653T>A (n.-653T>A)
1g.17005469A>CCA338264586ATP13A2c.193T>G (p.Phe65Val)
c.212T>G (p.Leu71Arg)
c.170T>G
c.119T>G
c.-654T>G (n.-654T>G)
1g.17005469A>GCA338264588ATP13A2c.193T>C (p.Phe65Leu)
c.212T>C (p.Leu71Pro)
c.170T>C
c.119T>C
c.-654T>C (n.-654T>C)
1g.17005469A>TCA338264590ATP13A2c.193T>A (p.Phe65Ile)
c.212T>A (p.Leu71His)
c.170T>A
c.119T>A
c.-654T>A (n.-654T>A)
1g.17005470G>ACA637737ATP13A2c.192C>T (p.Leu64=)
c.211C>T (p.Leu71Phe)
c.169C>T
c.118C>T
c.-655C>T (n.-655C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17005470G>CCA416075253ATP13A2c.192C>G (p.Leu64=)
c.211C>G (p.Leu71Val)
c.169C>G
c.118C>G
c.-655C>G (n.-655C>G)
1g.17005470G=CA1147956019ATP13A2c.192C= (p.Leu64=)
c.211C= (p.Leu71=)
c.169C=
c.118C=
c.-655C= (n.-655C=)
1g.17005470G>TCA416075258ATP13A2c.192C>A (p.Leu64=)
c.211C>A (p.Leu71Ile)
c.169C>A
c.118C>A
c.-655C>A (n.-655C>A)
1g.17005471A=CA1156068475ATP13A2c.191T= (p.Leu64=)
c.210T= (p.Ala70=)
c.168T=
c.117T=
c.-656T= (n.-656T=)
1g.17005471A>CCA338264594ATP13A2c.191T>G (p.Leu64Arg)
c.210T>G (p.Ala70=)
c.168T>G
c.117T>G
c.-656T>G (n.-656T>G)
1g.17005471A>GCA338264595ATP13A2c.191T>C (p.Leu64Pro)
c.210T>C (p.Ala70=)
c.168T>C
c.117T>C
c.-656T>C (n.-656T>C)
1g.17005471A>TCA338264596ATP13A2c.191T>A (p.Leu64His)
c.210T>A (p.Ala70=)
c.168T>A
c.117T>A
c.-656T>A (n.-656T>A)
 dbSNP
1g.17005472G>ACA637738ATP13A2c.190C>T (p.Leu64Phe)
c.209C>T (p.Ala70Val)
c.167C>T
c.116C>T
c.-657C>T (n.-657C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.17005472G>CCA338264598ATP13A2c.190C>G (p.Leu64Val)
c.209C>G (p.Ala70Gly)
c.167C>G
c.116C>G
c.-657C>G (n.-657C>G)
1g.17005472G=CA1156068476ATP13A2c.190C= (p.Leu64=)
c.209C= (p.Ala70=)
c.167C=
c.116C=
c.-657C= (n.-657C=)
1g.17005472G>TCA338264601ATP13A2c.190C>A (p.Leu64Ile)
c.209C>A (p.Ala70Asp)
c.167C>A
c.116C>A
c.-657C>A (n.-657C>A)
1g.17005473C>ACA416075269ATP13A2c.189G>T (p.Leu63=)
c.208G>T (p.Ala70Ser)
c.166G>T
c.115G>T
c.-658G>T (n.-658G>T)
1g.17005473C>GCA416075271ATP13A2c.189G>C (p.Leu63=)
c.208G>C (p.Ala70Pro)
c.166G>C
c.115G>C
c.-658G>C (n.-658G>C)
 gnomAD v4
1g.17005473C>TCA416075273ATP13A2c.189G>A (p.Leu63=)
c.208G>A (p.Ala70Thr)
c.166G>A
c.115G>A
c.-658G>A (n.-658G>A)
 COSMIC COSMIC
1g.17005473_17005474delinsCACA1156068477ATP13A2c.188_189delinsTG (p.Leu63=)
c.207_208delinsTG (p.Ala69=)
c.165_166delinsTG
c.114_115delinsTG
c.-659_-658delinsTG (n.-659_-658delinsTG)
1g.17005474delCA916118860ATP13A2c.188del (p.Leu63ArgfsTer30)
c.207del (p.Ala70LeufsTer?)
c.165del
c.114del
c.-659del (n.-659del)
 dbSNP gnomAD v4
1g.17005474A>CCA338264604ATP13A2c.188T>G (p.Leu63Arg)
c.207T>G (p.Ala69=)
c.165T>G
c.114T>G
c.-659T>G (n.-659T>G)
1g.17005474A>GCA338264611ATP13A2c.188T>C (p.Leu63Pro)
c.207T>C (p.Ala69=)
c.165T>C
c.114T>C
c.-659T>C (n.-659T>C)
1g.17005474A>TCA338264614ATP13A2c.188T>A (p.Leu63Gln)
c.207T>A (p.Ala69=)
c.165T>A
c.114T>A
c.-659T>A (n.-659T>A)
1g.17005475G>ACA416075277ATP13A2c.187C>T (p.Leu63=)
c.206C>T (p.Ala69Val)
c.164C>T
c.113C>T
c.-660C>T (n.-660C>T)
1g.17005475G>CCA338264620ATP13A2c.187C>G (p.Leu63Val)
c.206C>G (p.Ala69Gly)
c.164C>G
c.113C>G
c.-660C>G (n.-660C>G)
1g.17005475G>TCA338264615ATP13A2c.187C>A (p.Leu63Met)
c.206C>A (p.Ala69Asp)
c.164C>A
c.113C>A
c.-660C>A (n.-660C>A)
1g.17005476C>ACA338264621ATP13A2c.186G>T (p.Leu62Phe)
c.205G>T (p.Ala69Ser)
c.163G>T
c.112G>T
c.-661G>T (n.-661G>T)
1g.17005476C>GCA338264622ATP13A2c.186G>C (p.Leu62Phe)
c.205G>C (p.Ala69Pro)
c.163G>C
c.112G>C
c.-661G>C (n.-661G>C)
1g.17005476C>TCA416075285ATP13A2c.186G>A (p.Leu62=)
c.205G>A (p.Ala69Thr)
c.163G>A
c.112G>A
c.-661G>A (n.-661G>A)
1g.17005477A>CCA338264625ATP13A2c.185T>G (p.Leu62Trp)
c.204T>G (p.Phe68Leu)
c.162T>G
c.111T>G
c.-662T>G (n.-662T>G)
1g.17005477A>GCA338264626ATP13A2c.185T>C (p.Leu62Ser)
c.204T>C (p.Phe68=)
c.162T>C
c.111T>C
c.-662T>C (n.-662T>C)
1g.17005477A>TCA338264628ATP13A2c.185T>A (p.Leu62Ter)
c.204T>A (p.Phe68Leu)
c.162T>A
c.111T>A
c.-662T>A (n.-662T>A)
1g.17005478A>CCA338264631ATP13A2c.184T>G (p.Leu62Val)
c.203T>G (p.Phe68Cys)
c.161T>G
c.110T>G
c.-663T>G (n.-663T>G)
1g.17005478A>GCA416075294ATP13A2c.184T>C (p.Leu62=)
c.203T>C (p.Phe68Ser)
c.161T>C
c.110T>C
c.-663T>C (n.-663T>C)
 gnomAD v4
1g.17005478A>TCA338264642ATP13A2c.184T>A (p.Leu62Met)
c.203T>A (p.Phe68Tyr)
c.161T>A
c.110T>A
c.-663T>A (n.-663T>A)
1g.17005479A=CA1156068480ATP13A2c.183T= (p.Pro61=)
c.202T= (p.Phe68=)
c.160T=
c.109T=
c.-664T= (n.-664T=)
1g.17005479A>CCA416075295ATP13A2c.183T>G (p.Pro61=)
c.202T>G (p.Phe68Val)
c.160T>G
c.109T>G
c.-664T>G (n.-664T>G)
1g.17005479A>GCA18647065ATP13A2c.183T>C (p.Pro61=)
c.202T>C (p.Phe68Leu)
c.160T>C
c.109T>C
c.-664T>C (n.-664T>C)
 dbSNP gnomAD v2 gnomAD v4
1g.17005479A>TCA416075298ATP13A2c.183T>A (p.Pro61=)
c.202T>A (p.Phe68Ile)
c.160T>A
c.109T>A
c.-664T>A (n.-664T>A)
1g.17005480G>ACA338264646ATP13A2c.182C>T (p.Pro61Leu)
c.201C>T (p.Pro67=)
c.159C>T
c.108C>T
c.-665C>T (n.-665C>T)
1g.17005480G>CCA338264655ATP13A2c.182C>G (p.Pro61Arg)
c.201C>G (p.Pro67=)
c.159C>G
c.108C>G
c.-665C>G (n.-665C>G)
1g.17005480G>TCA338264656ATP13A2c.182C>A (p.Pro61His)
c.201C>A (p.Pro67=)
c.159C>A
c.108C>A
c.-665C>A (n.-665C>A)
1g.17005481G>ACA338264658ATP13A2c.181C>T (p.Pro61Ser)
c.200C>T (p.Pro67Leu)
c.158C>T
c.107C>T
c.-666C>T (n.-666C>T)
1g.17005481G>CCA338264661ATP13A2c.181C>G (p.Pro61Ala)
c.200C>G (p.Pro67Arg)
c.158C>G
c.107C>G
c.-666C>G (n.-666C>G)
1g.17005481G>TCA338264663ATP13A2c.181C>A (p.Pro61Thr)
c.200C>A (p.Pro67His)
c.158C>A
c.107C>A
c.-666C>A (n.-666C>A)
1g.17005482G>ACA416075312ATP13A2c.180C>T (p.Ile60=)
c.199C>T (p.Pro67Ser)
c.157C>T
c.106C>T
c.-667C>T (n.-667C>T)
 COSMIC COSMIC
1g.17005482G>CCA338264665ATP13A2c.180C>G (p.Ile60Met)
c.199C>G (p.Pro67Ala)
c.157C>G
c.106C>G
c.-667C>G (n.-667C>G)
1g.17005482G>TCA416075309ATP13A2c.180C>A (p.Ile60=)
c.199C>A (p.Pro67Thr)
c.157C>A
c.106C>A
c.-667C>A (n.-667C>A)
 gnomAD v4
1g.17005483A>CCA338264669ATP13A2c.179T>G (p.Ile60Ser)
c.198T>G (p.Asp66Glu)
c.156T>G
c.105T>G
c.-668T>G (n.-668T>G)
1g.17005483A>GCA338264667ATP13A2c.179T>C (p.Ile60Thr)
c.198T>C (p.Asp66=)
c.156T>C
c.105T>C
c.-668T>C (n.-668T>C)
1g.17005483A>TCA338264672ATP13A2c.179T>A (p.Ile60Asn)
c.198T>A (p.Asp66Glu)
c.156T>A
c.105T>A
c.-668T>A (n.-668T>A)
1g.17005484T>ACA338264674ATP13A2c.178A>T (p.Ile60Phe)
c.197A>T (p.Asp66Val)
c.155A>T
c.104A>T
c.-669A>T (n.-669A>T)
 gnomAD v4
1g.17005484T>CCA338264677ATP13A2c.178A>G (p.Ile60Val)
c.197A>G (p.Asp66Gly)
c.155A>G
c.104A>G
c.-669A>G (n.-669A>G)
1g.17005484T>GCA338264681ATP13A2c.178A>C (p.Ile60Leu)
c.197A>C (p.Asp66Ala)
c.155A>C
c.104A>C
c.-669A>C (n.-669A>C)
1g.17005485C>ACA416075324ATP13A2c.177G>T (p.Gly59=)
c.196G>T (p.Asp66Tyr)
c.154G>T
c.103G>T
c.-670G>T (n.-670G>T)
1g.17005485C=CA1156068482ATP13A2c.177G= (p.Gly59=)
c.196G= (p.Asp66=)
c.154G=
c.103G=
c.-670G= (n.-670G=)
1g.17005485C>GCA416075322ATP13A2c.177G>C (p.Gly59=)
c.196G>C (p.Asp66His)
c.154G>C
c.103G>C
c.-670G>C (n.-670G>C)
 dbSNP
1g.17005485C>TCA416075321ATP13A2c.177G>A (p.Gly59=)
c.196G>A (p.Asp66Asn)
c.154G>A
c.103G>A
c.-670G>A (n.-670G>A)
 gnomAD v4
1g.17005486C>ACA338264683ATP13A2c.176G>T (p.Gly59Val)
c.195G>T (p.Trp65Cys)
c.153G>T
c.102G>T
c.-671G>T (n.-671G>T)
1g.17005486C=CA1156068484ATP13A2c.176G= (p.Gly59=)
c.195G= (p.Trp65=)
c.153G=
c.102G=
c.-671G= (n.-671G=)
1g.17005486C>GCA338264685ATP13A2c.176G>C (p.Gly59Ala)
c.195G>C (p.Trp65Cys)
c.153G>C
c.102G>C
c.-671G>C (n.-671G>C)
 dbSNP
1g.17005486C>TCA338264688ATP13A2c.176G>A (p.Gly59Glu)
c.195G>A (p.Trp65Ter)
c.153G>A
c.102G>A
c.-671G>A (n.-671G>A)
1g.17005487C>ACA338264691ATP13A2c.175G>T (p.Gly59Trp)
c.194G>T (p.Trp65Leu)
c.152G>T
c.101G>T
c.-672G>T (n.-672G>T)
 dbSNP gnomAD v2 gnomAD v4
1g.17005487C=CA1156068485ATP13A2c.175G= (p.Gly59=)
c.194G= (p.Trp65=)
c.152G=
c.101G=
c.-672G= (n.-672G=)
1g.17005487C>GCA338264695ATP13A2c.175G>C (p.Gly59Arg)
c.194G>C (p.Trp65Ser)
c.152G>C
c.101G>C
c.-672G>C (n.-672G>C)
1g.17005487C>TCA338264696ATP13A2c.175G>A (p.Gly59Arg)
c.194G>A (p.Trp65Ter)
c.152G>A
c.101G>A
c.-672G>A (n.-672G>A)
1g.17005488A=CA1156068487ATP13A2c.174T= (p.Ala58=)
c.193T= (p.Trp65=)
c.151T=
c.100T=
c.-673T= (n.-673T=)
1g.17005488A>CCA416075333ATP13A2c.174T>G (p.Ala58=)
c.193T>G (p.Trp65Gly)
c.151T>G
c.100T>G
c.-673T>G (n.-673T>G)
1g.17005488A>GCA416075335ATP13A2c.174T>C (p.Ala58=)
c.193T>C (p.Trp65Arg)
c.151T>C
c.100T>C
c.-673T>C (n.-673T>C)
 dbSNP gnomAD v3 gnomAD v4
1g.17005488A>TCA416075336ATP13A2c.174T>A (p.Ala58=)
c.193T>A (p.Trp65Arg)
c.151T>A
c.100T>A
c.-673T>A (n.-673T>A)
1g.17005489G>ACA338264700ATP13A2c.173C>T (p.Ala58Val)
c.192C>T (p.Gly64=)
c.150C>T
c.99C>T
c.-674C>T (n.-674C>T)
 COSMIC COSMIC
1g.17005489G>CCA338264708ATP13A2c.173C>G (p.Ala58Gly)
c.192C>G (p.Gly64=)
c.150C>G
c.99C>G
c.-674C>G (n.-674C>G)
 dbSNP gnomAD v3 gnomAD v4
1g.17005489G=CA1156068489ATP13A2c.173C= (p.Ala58=)
c.192C= (p.Gly64=)
c.150C=
c.99C=
c.-674C= (n.-674C=)
1g.17005489G>TCA338264710ATP13A2c.173C>A (p.Ala58Asp)
c.192C>A (p.Gly64=)
c.150C>A
c.99C>A
c.-674C>A (n.-674C>A)
1g.17005490C>ACA338264720ATP13A2c.172G>T (p.Ala58Ser)
c.191G>T (p.Gly64Val)
c.149G>T
c.98G>T
c.-675G>T (n.-675G>T)
 COSMIC COSMIC
1g.17005490C>GCA338264718ATP13A2c.172G>C (p.Ala58Pro)
c.191G>C (p.Gly64Ala)
c.149G>C
c.98G>C
c.-675G>C (n.-675G>C)
1g.17005490C>TCA338264713ATP13A2c.172G>A (p.Ala58Thr)
c.191G>A (p.Gly64Asp)
c.149G>A
c.98G>A
c.-675G>A (n.-675G>A)
1g.17005491C>ACA338264723ATP13A2c.171G>T (p.Met57Ile)
c.190G>T (p.Gly64Cys)
c.148G>T
c.97G>T
c.-676G>T (n.-676G>T)
1g.17005491C>GCA338264727ATP13A2c.171G>C (p.Met57Ile)
c.190G>C (p.Gly64Arg)
c.148G>C
c.97G>C
c.-676G>C (n.-676G>C)
1g.17005491C>TCA338264729ATP13A2c.171G>A (p.Met57Ile)
c.190G>A (p.Gly64Ser)
c.148G>A
c.97G>A
c.-676G>A (n.-676G>A)
1g.17005492A>CCA338264732ATP13A2c.170T>G (p.Met57Arg)
c.189T>G (p.Asp63Glu)
c.147T>G
c.96T>G
c.-677T>G (n.-677T>G)
1g.17005492A>GCA338264735ATP13A2c.170T>C (p.Met57Thr)
c.189T>C (p.Asp63=)
c.147T>C
c.96T>C
c.-677T>C (n.-677T>C)
 gnomAD v4
1g.17005492A>TCA338264737ATP13A2c.170T>A (p.Met57Lys)
c.189T>A (p.Asp63Glu)
c.147T>A
c.96T>A
c.-677T>A (n.-677T>A)
1g.17005493T>ACA338264741ATP13A2c.169A>T (p.Met57Leu)
c.188A>T (p.Asp63Val)
c.146A>T
c.95A>T
c.-678A>T (n.-678A>T)
1g.17005493T>CCA338264743ATP13A2c.169A>G (p.Met57Val)
c.188A>G (p.Asp63Gly)
c.146A>G
c.95A>G
c.-678A>G (n.-678A>G)
1g.17005493T>GCA338264746ATP13A2c.169A>C (p.Met57Leu)
c.188A>C (p.Asp63Ala)
c.146A>C
c.95A>C
c.-678A>C (n.-678A>C)
1g.17005494C>ACA338264749ATP13A2c.168G>T (p.Met56Ile)
c.187G>T (p.Asp63Tyr)
c.145G>T
c.94G>T
c.-679G>T (n.-679G>T)
1g.17005494C>GCA338264753ATP13A2c.168G>C (p.Met56Ile)
c.187G>C (p.Asp63His)
c.145G>C
c.94G>C
c.-679G>C (n.-679G>C)
1g.17005494C>TCA338264755ATP13A2c.168G>A (p.Met56Ile)
c.187G>A (p.Asp63Asn)
c.145G>A
c.94G>A
c.-679G>A (n.-679G>A)
1g.17005495A>CCA338264759ATP13A2c.167T>G (p.Met56Arg)
c.186T>G (p.Asp62Glu)
c.144T>G
c.93T>G
c.-680T>G (n.-680T>G)
1g.17005495A>GCA338264764ATP13A2c.167T>C (p.Met56Thr)
c.186T>C (p.Asp62=)
c.144T>C
c.93T>C
c.-680T>C (n.-680T>C)
1g.17005495A>TCA338264762ATP13A2c.167T>A (p.Met56Lys)
c.186T>A (p.Asp62Glu)
c.144T>A
c.93T>A
c.-680T>A (n.-680T>A)
1g.17005496T>ACA338264767ATP13A2c.166A>T (p.Met56Leu)
c.185A>T (p.Asp62Val)
c.143A>T
c.92A>T
c.-681A>T (n.-681A>T)
1g.17005496T>CCA338264776ATP13A2c.166A>G (p.Met56Val)
c.185A>G (p.Asp62Gly)
c.143A>G
c.92A>G
c.-681A>G (n.-681A>G)
 dbSNP gnomAD v2 gnomAD v4
1g.17005496T>GCA338264769ATP13A2c.166A>C (p.Met56Leu)
c.185A>C (p.Asp62Ala)
c.143A>C
c.92A>C
c.-681A>C (n.-681A>C)
1g.17005496T=CA1156068491ATP13A2c.166A= (p.Met56=)
c.185A= (p.Asp62=)
c.143A=
c.92A=
c.-681A= (n.-681A=)
1g.17005497C>ACA338264779ATP13A2c.165G>T (p.Trp55Cys)
c.184G>T (p.Asp62Tyr)
c.142G>T
c.91G>T
c.-682G>T (n.-682G>T)
1g.17005497C=CA1156068492ATP13A2c.165G= (p.Trp55=)
c.184G= (p.Asp62=)
c.142G=
c.91G=
c.-682G= (n.-682G=)
1g.17005497C>GCA338264788ATP13A2c.165G>C (p.Trp55Cys)
c.184G>C (p.Asp62His)
c.142G>C
c.91G>C
c.-682G>C (n.-682G>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.17005497C>TCA338264782ATP13A2c.165G>A (p.Trp55Ter)
c.184G>A (p.Asp62Asn)
c.142G>A
c.91G>A
c.-682G>A (n.-682G>A)
1g.17005498C>ACA338264789ATP13A2c.164G>T (p.Trp55Leu)
c.183G>T (p.Leu61=)
c.141G>T
c.90G>T
c.-683G>T (n.-683G>T)
1g.17005498C>GCA338264790ATP13A2c.164G>C (p.Trp55Ser)
c.183G>C (p.Leu61=)
c.141G>C
c.90G>C
c.-683G>C (n.-683G>C)
1g.17005498C>TCA338264791ATP13A2c.164G>A (p.Trp55Ter)
c.183G>A (p.Leu61=)
c.141G>A
c.90G>A
c.-683G>A (n.-683G>A)
1g.17005499A>CCA338264804ATP13A2c.163T>G (p.Trp55Gly)
c.182T>G (p.Leu61Arg)
c.140T>G
c.89T>G
c.-684T>G (n.-684T>G)
1g.17005499A>GCA338264806ATP13A2c.163T>C (p.Trp55Arg)
c.182T>C (p.Leu61Pro)
c.140T>C
c.89T>C
c.-684T>C (n.-684T>C)
 gnomAD v4
1g.17005499A>TCA338264809ATP13A2c.163T>A (p.Trp55Arg)
c.182T>A (p.Leu61Gln)
c.140T>A
c.89T>A
c.-684T>A (n.-684T>A)
 gnomAD v4
1g.17005499_17005505delinsAGACCACCA1156068494ATP13A2c.157_163delinsGTGGTCT (p.Val53=)
c.176_182delinsGTGGTCT (p.Arg59=)
c.134_140delinsGTGGTCT
c.83_89delinsGTGGTCT
c.-690_-684delinsGTGGTCT (n.-690_-684delinsGTGGTCT)
1g.17005500G>ACA416075387ATP13A2c.162C>T (p.Val54=)
c.181C>T (p.Leu61=)
c.139C>T
c.88C>T
c.-685C>T (n.-685C>T)
 gnomAD v4
1g.17005500G>CCA416075389ATP13A2c.162C>G (p.Val54=)
c.181C>G (p.Leu61Val)
c.139C>G
c.88C>G
c.-685C>G (n.-685C>G)
1g.17005500G>TCA416075385ATP13A2c.162C>A (p.Val54=)
c.181C>A (p.Leu61Met)
c.139C>A
c.88C>A
c.-685C>A (n.-685C>A)
1g.17005503_17005508delCA637739ATP13A2c.157_162del (p.Val53_Val54del)
c.176_181del (p.Arg59_Gly60del)
c.134_139del
c.83_88del
c.-690_-685del (n.-690_-685del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17005501A>CCA338264814ATP13A2c.161T>G (p.Val54Gly)
c.180T>G (p.Gly60=)
c.138T>G
c.87T>G
c.-686T>G (n.-686T>G)
1g.17005501A>GCA338264817ATP13A2c.161T>C (p.Val54Ala)
c.180T>C (p.Gly60=)
c.138T>C
c.87T>C
c.-686T>C (n.-686T>C)
1g.17005501A>TCA338264819ATP13A2c.161T>A (p.Val54Asp)
c.180T>A (p.Gly60=)
c.138T>A
c.87T>A
c.-686T>A (n.-686T>A)
1g.17005502C>ACA338264829ATP13A2c.160G>T (p.Val54Phe)
c.179G>T (p.Gly60Val)
c.137G>T
c.86G>T
c.-687G>T (n.-687G>T)
1g.17005502C=CA1156068497ATP13A2c.160G= (p.Val54=)
c.179G= (p.Gly60=)
c.137G=
c.86G=
c.-687G= (n.-687G=)
1g.17005502C>GCA338264824ATP13A2c.160G>C (p.Val54Leu)
c.179G>C (p.Gly60Ala)
c.137G>C
c.86G>C
c.-687G>C (n.-687G>C)
1g.17005502C>TCA338264827ATP13A2c.160G>A (p.Val54Ile)
c.179G>A (p.Gly60Asp)
c.137G>A
c.86G>A
c.-687G>A (n.-687G>A)
 dbSNP
1g.17005503C>ACA416075399ATP13A2c.159G>T (p.Val53=)
c.178G>T (p.Gly60Cys)
c.136G>T
c.85G>T
c.-688G>T (n.-688G>T)
 COSMIC
1g.17005503C>GCA416075401ATP13A2c.159G>C (p.Val53=)
c.178G>C (p.Gly60Arg)
c.136G>C
c.85G>C
c.-688G>C (n.-688G>C)
1g.17005503C>TCA416075402ATP13A2c.159G>A (p.Val53=)
c.178G>A (p.Gly60Ser)
c.136G>A
c.85G>A
c.-688G>A (n.-688G>A)
1g.17005504A>CCA338264831ATP13A2c.158T>G (p.Val53Gly)
c.177T>G (p.Arg59=)
c.135T>G
c.84T>G
c.-689T>G (n.-689T>G)
1g.17005504A>GCA338264833ATP13A2c.158T>C (p.Val53Ala)
c.177T>C (p.Arg59=)
c.135T>C
c.84T>C
c.-689T>C (n.-689T>C)
1g.17005504A>TCA338264838ATP13A2c.158T>A (p.Val53Glu)
c.177T>A (p.Arg59=)
c.135T>A
c.84T>A
c.-689T>A (n.-689T>A)
1g.17005505C>ACA338264842ATP13A2c.157G>T (p.Val53Leu)
c.176G>T (p.Arg59Leu)
c.134G>T
c.83G>T
c.-690G>T (n.-690G>T)
1g.17005505C=CA1141883316ATP13A2c.157G= (p.Val53=)
c.176G= (p.Arg59=)
c.134G=
c.83G=
c.-690G= (n.-690G=)
1g.17005505C>GCA338264845ATP13A2c.157G>C (p.Val53Leu)
c.176G>C (p.Arg59Pro)
c.134G>C
c.83G>C
c.-690G>C (n.-690G>C)
 gnomAD v4
1g.17005505C>TCA637740ATP13A2c.157G>A (p.Val53Met)
c.176G>A (p.Arg59His)
c.134G>A
c.83G>A
c.-690G>A (n.-690G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.17005506G>ACA637741ATP13A2c.156C>T (p.Val52=)
c.175C>T (p.Arg59Cys)
c.133C>T
c.82C>T
c.-691C>T (n.-691C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17005506G>CCA416075415ATP13A2c.156C>G (p.Val52=)
c.175C>G (p.Arg59Gly)
c.133C>G
c.82C>G
c.-691C>G (n.-691C>G)
1g.17005506G=CA1156068502ATP13A2c.156C= (p.Val52=)
c.175C= (p.Arg59=)
c.133C=
c.82C=
c.-691C= (n.-691C=)
1g.17005506G>TCA416075417ATP13A2c.156C>A (p.Val52=)
c.175C>A (p.Arg59Ser)
c.133C>A
c.82C>A
c.-691C>A (n.-691C>A)
1g.17005507A=CA1156068504ATP13A2c.155T= (p.Val52=)
c.174T= (p.Arg58=)
c.132T=
c.81T=
c.-692T= (n.-692T=)
1g.17005507A>CCA338264857ATP13A2c.155T>G (p.Val52Gly)
c.174T>G (p.Arg58=)
c.132T>G
c.81T>G
c.-692T>G (n.-692T>G)
1g.17005507A>GCA338264860ATP13A2c.155T>C (p.Val52Ala)
c.174T>C (p.Arg58=)
c.132T>C
c.81T>C
c.-692T>C (n.-692T>C)
 dbSNP
1g.17005507A>TCA338264864ATP13A2c.155T>A (p.Val52Asp)
c.174T>A (p.Arg58=)
c.132T>A
c.81T>A
c.-692T>A (n.-692T>A)
1g.17005508C>ACA637742ATP13A2c.154G>T (p.Val52Phe)
c.173G>T (p.Arg58Leu)
c.131G>T
c.80G>T
c.-693G>T (n.-693G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17005508C=CA1156068505ATP13A2c.154G= (p.Val52=)
c.173G= (p.Arg58=)
c.131G=
c.80G=
c.-693G= (n.-693G=)
1g.17005508C>GCA338264874ATP13A2c.154G>C (p.Val52Leu)
c.173G>C (p.Arg58Pro)
c.131G>C
c.80G>C
c.-693G>C (n.-693G>C)
1g.17005508C>TCA637743ATP13A2c.154G>A (p.Val52Ile)
c.173G>A (p.Arg58His)
c.131G>A
c.80G>A
c.-693G>A (n.-693G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17005509G>ACA637744ATP13A2c.153C>T (p.His51=)
c.172C>T (p.Arg58Cys)
c.130C>T
c.79C>T
c.-694C>T (n.-694C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17005509G>CCA338264879ATP13A2c.153C>G (p.His51Gln)
c.172C>G (p.Arg58Gly)
c.130C>G
c.79C>G
c.-694C>G (n.-694C>G)
1g.17005509G=CA1156068507ATP13A2c.153C= (p.His51=)
c.172C= (p.Arg58=)
c.130C=
c.79C=
c.-694C= (n.-694C=)
1g.17005509G>TCA338264882ATP13A2c.153C>A (p.His51Gln)
c.172C>A (p.Arg58Ser)
c.130C>A
c.79C>A
c.-694C>A (n.-694C>A)
1g.17005509_17005510insAAACACCA2523566899ATP13A2c.152_153insGTGTTT (p.His51delinsGlnCysPhe)
c.171_172insGTGTTT (p.Ser57_Arg58insValPhe)
c.129_130insGTGTTT
c.78_79insGTGTTT
c.-695_-694insGTGTTT (n.-695_-694insGTGTTT)
1g.17005510T>ACA338264887ATP13A2c.152A>T (p.His51Leu)
c.171A>T (p.Ser57=)
c.129A>T
c.78A>T
c.-695A>T (n.-695A>T)
1g.17005510T>CCA338264890ATP13A2c.152A>G (p.His51Arg)
c.171A>G (p.Ser57=)
c.129A>G
c.78A>G
c.-695A>G (n.-695A>G)
1g.17005510T>GCA338264892ATP13A2c.152A>C (p.His51Pro)
c.171A>C (p.Ser57=)
c.129A>C
c.78A>C
c.-695A>C (n.-695A>C)
1g.17005511G>ACA338264896ATP13A2c.151C>T (p.His51Tyr)
c.170C>T (p.Ser57Leu)
c.128C>T
c.77C>T
c.-696C>T (n.-696C>T)
 COSMIC COSMIC
1g.17005511G>CCA338264897ATP13A2c.151C>G (p.His51Asp)
c.170C>G (p.Ser57Ter)
c.128C>G
c.77C>G
c.-696C>G (n.-696C>G)
1g.17005511G>TCA338264901ATP13A2c.151C>A (p.His51Asn)
c.170C>A (p.Ser57Ter)
c.128C>A
c.77C>A
c.-696C>A (n.-696C>A)
1g.17005512A>CCA338264903ATP13A2c.150T>G (p.Tyr50Ter)
c.169T>G (p.Ser57Ala)
c.127T>G
c.76T>G
c.-697T>G (n.-697T>G)
1g.17005512A>GCA416075440ATP13A2c.150T>C (p.Tyr50=)
c.169T>C (p.Ser57Pro)
c.127T>C
c.76T>C
c.-697T>C (n.-697T>C)
1g.17005512A>TCA338264906ATP13A2c.150T>A (p.Tyr50Ter)
c.169T>A (p.Ser57Thr)
c.127T>A
c.76T>A
c.-697T>A (n.-697T>A)
1g.17005513T>ACA338264910ATP13A2c.149A>T (p.Tyr50Phe)
c.168A>T (p.Leu56=)
c.126A>T
c.75A>T
c.-698A>T (n.-698A>T)
 gnomAD v4
1g.17005513T>CCA18647099ATP13A2c.149A>G (p.Tyr50Cys)
c.168A>G (p.Leu56=)
c.126A>G
c.75A>G
c.-698A>G (n.-698A>G)
 dbSNP
1g.17005513T>GCA338264908ATP13A2c.149A>C (p.Tyr50Ser)
c.168A>C (p.Leu56=)
c.126A>C
c.75A>C
c.-698A>C (n.-698A>C)
1g.17005513T=CA1156068508ATP13A2c.149A= (p.Tyr50=)
c.168A= (p.Leu56=)
c.126A=
c.75A=
c.-698A= (n.-698A=)
1g.17005514A>CCA338264915ATP13A2c.148T>G (p.Tyr50Asp)
c.167T>G (p.Leu56Arg)
c.125T>G
c.74T>G
c.-699T>G (n.-699T>G)
1g.17005514A>GCA338264918ATP13A2c.148T>C (p.Tyr50His)
c.167T>C (p.Leu56Pro)
c.125T>C
c.74T>C
c.-699T>C (n.-699T>C)
 ClinVar dbSNP gnomAD v4
1g.17005514A>TCA338264920ATP13A2c.148T>A (p.Tyr50Asn)
c.167T>A (p.Leu56Gln)
c.125T>A
c.74T>A
c.-699T>A (n.-699T>A)
1g.17005515G>ACA416075453ATP13A2c.147C>T (p.Gly49=)
c.166C>T (p.Leu56=)
c.124C>T
c.73C>T
c.-700C>T (n.-700C>T)
1g.17005515G>CCA416075456ATP13A2c.147C>G (p.Gly49=)
c.166C>G (p.Leu56Val)
c.124C>G
c.73C>G
c.-700C>G (n.-700C>G)
1g.17005515G>TCA416075454ATP13A2c.147C>A (p.Gly49=)
c.166C>A (p.Leu56Ile)
c.124C>A
c.73C>A
c.-700C>A (n.-700C>A)
1g.17005516C>ACA637745ATP13A2c.146G>T (p.Gly49Val)
c.165G>T (p.Arg55=)
c.123G>T
c.72G>T
c.-701G>T (n.-701G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17005516C=CA1143849965ATP13A2c.146G= (p.Gly49=)
c.165G= (p.Arg55=)
c.123G=
c.72G=
c.-701G= (n.-701G=)
1g.17005516C>GCA338264924ATP13A2c.146G>C (p.Gly49Ala)
c.165G>C (p.Arg55=)
c.123G>C
c.72G>C
c.-701G>C (n.-701G>C)
1g.17005516C>TCA338264927ATP13A2c.146G>A (p.Gly49Asp)
c.165G>A (p.Arg55=)
c.123G>A
c.72G>A
c.-701G>A (n.-701G>A)
1g.17005517C>ACA338264928ATP13A2c.145G>T (p.Gly49Cys)
c.164G>T (p.Arg55Leu)
c.122G>T
c.71G>T
c.-702G>T (n.-702G>T)
1g.17005517C=CA1140642454ATP13A2c.145G= (p.Gly49=)
c.164G= (p.Arg55=)
c.122G=
c.71G=
c.-702G= (n.-702G=)
1g.17005517C>GCA338264929ATP13A2c.145G>C (p.Gly49Arg)
c.164G>C (p.Arg55Pro)
c.122G>C
c.71G>C
c.-702G>C (n.-702G>C)
 dbSNP
1g.17005517C>TCA637746ATP13A2c.145G>A (p.Gly49Ser)
c.164G>A (p.Arg55Gln)
c.122G>A
c.71G>A
c.-702G>A (n.-702G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17005518G>ACA637747ATP13A2c.144C>T (p.Ile48=)
c.163C>T (p.Arg55Trp)
c.121C>T
c.70C>T
c.-703C>T (n.-703C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.17005518G>CCA338264930ATP13A2c.144C>G (p.Ile48Met)
c.163C>G (p.Arg55Gly)
c.121C>G
c.70C>G
c.-703C>G (n.-703C>G)
1g.17005518G=CA1144071311ATP13A2c.144C= (p.Ile48=)
c.163C= (p.Arg55=)
c.121C=
c.70C=
c.-703C= (n.-703C=)
1g.17005518G>TCA416075470ATP13A2c.144C>A (p.Ile48=)
c.163C>A (p.Arg55=)
c.121C>A
c.70C>A
c.-703C>A (n.-703C>A)
 dbSNP
1g.17005519A>CCA338264933ATP13A2c.143T>G (p.Ile48Ser)
c.162T>G (p.His54Gln)
c.120T>G
c.69T>G
c.-704T>G (n.-704T>G)
1g.17005519A>GCA338264936ATP13A2c.143T>C (p.Ile48Thr)
c.162T>C (p.His54=)
c.120T>C
c.69T>C
c.-704T>C (n.-704T>C)
1g.17005519A>TCA338264941ATP13A2c.143T>A (p.Ile48Asn)
c.162T>A (p.His54Gln)
c.120T>A
c.69T>A
c.-704T>A (n.-704T>A)
1g.17005520T>ACA338264946ATP13A2c.142A>T (p.Ile48Phe)
c.161A>T (p.His54Leu)
c.119A>T
c.68A>T
c.-705A>T (n.-705A>T)
1g.17005520T>CCA637748ATP13A2c.142A>G (p.Ile48Val)
c.161A>G (p.His54Arg)
c.119A>G
c.68A>G
c.-705A>G (n.-705A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.17005520T>GCA338264944ATP13A2c.142A>C (p.Ile48Leu)
c.161A>C (p.His54Pro)
c.119A>C
c.68A>C
c.-705A>C (n.-705A>C)
1g.17005520T=CA1156068516ATP13A2c.142A= (p.Ile48=)
c.161A= (p.His54=)
c.119A=
c.68A=
c.-705A= (n.-705A=)
1g.17005521G>ACA637749ATP13A2c.141C>T (p.Val47=)
c.160C>T (p.His54Tyr)
c.118C>T
c.67C>T
c.-706C>T (n.-706C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.17005521G>CCA416075482ATP13A2c.141C>G (p.Val47=)
c.160C>G (p.His54Asp)
c.118C>G
c.67C>G
c.-706C>G (n.-706C>G)
1g.17005521G=CA1156068517ATP13A2c.141C= (p.Val47=)
c.160C= (p.His54=)
c.118C=
c.67C=
c.-706C= (n.-706C=)
1g.17005521G>TCA416075484ATP13A2c.141C>A (p.Val47=)
c.160C>A (p.His54Asn)
c.118C>A
c.67C>A
c.-706C>A (n.-706C>A)
1g.17005522A>CCA338264952ATP13A2c.140T>G (p.Val47Gly)
c.159T>G (p.Gly53=)
c.117T>G
c.66T>G
c.-707T>G (n.-707T>G)
1g.17005522A>GCA338264958ATP13A2c.140T>C (p.Val47Ala)
c.159T>C (p.Gly53=)
c.117T>C
c.66T>C
c.-707T>C (n.-707T>C)
1g.17005522A>TCA338264963ATP13A2c.140T>A (p.Val47Asp)
c.159T>A (p.Gly53=)
c.117T>A
c.66T>A
c.-707T>A (n.-707T>A)
1g.17005523C>ACA338264964ATP13A2c.139G>T (p.Val47Phe)
c.158G>T (p.Gly53Val)
c.116G>T
c.65G>T
c.-708G>T (n.-708G>T)
1g.17005523C>GCA338264966ATP13A2c.139G>C (p.Val47Leu)
c.158G>C (p.Gly53Ala)
c.116G>C
c.65G>C
c.-708G>C (n.-708G>C)
1g.17005523C>TCA338264974ATP13A2c.139G>A (p.Val47Ile)
c.158G>A (p.Gly53Asp)
c.116G>A
c.65G>A
c.-708G>A (n.-708G>A)
1g.17005524C>ACA338264977ATP13A2c.138G>T (p.Arg46Ser)
c.157G>T (p.Gly53Cys)
c.115G>T
c.64G>T
c.-709G>T (n.-709G>T)
1g.17005524C>GCA338264979ATP13A2c.138G>C (p.Arg46Ser)
c.157G>C (p.Gly53Arg)
c.115G>C
c.64G>C
c.-709G>C (n.-709G>C)
1g.17005524C>TCA416075499ATP13A2c.138G>A (p.Arg46=)
c.157G>A (p.Gly53Ser)
c.115G>A
c.64G>A
c.-709G>A (n.-709G>A)
1g.17005525C>ACA338264983ATP13A2c.137G>T (p.Arg46Met)
c.156G>T (p.Glu52Asp)
c.114G>T
c.63G>T
c.-710G>T (n.-710G>T)
 gnomAD v4
1g.17005525C=CA1156068520ATP13A2c.137G= (p.Arg46=)
c.156G= (p.Glu52=)
c.114G=
c.63G=
c.-710G= (n.-710G=)
1g.17005525C>GCA338264985ATP13A2c.137G>C (p.Arg46Thr)
c.156G>C (p.Glu52Asp)
c.114G>C
c.63G>C
c.-710G>C (n.-710G>C)
 gnomAD v4
1g.17005525C>TCA338264989ATP13A2c.137G>A (p.Arg46Lys)
c.156G>A (p.Glu52=)
c.114G>A
c.63G>A
c.-710G>A (n.-710G>A)
 dbSNP gnomAD v2 gnomAD v4
1g.17005526T>ACA338264991ATP13A2c.136A>T (p.Arg46Trp)
c.155A>T (p.Glu52Val)
c.113A>T
c.62A>T
c.-711A>T (n.-711A>T)
1g.17005526T>CCA338264992ATP13A2c.136A>G (p.Arg46Gly)
c.155A>G (p.Glu52Gly)
c.113A>G
c.62A>G
c.-711A>G (n.-711A>G)
 dbSNP gnomAD v3 gnomAD v4
1g.17005526T>GCA416075509ATP13A2c.136A>C (p.Arg46=)
c.155A>C (p.Glu52Ala)
c.113A>C
c.62A>C
c.-711A>C (n.-711A>C)
1g.17005526T=CA1156068522ATP13A2c.136A= (p.Arg46=)
c.155A= (p.Glu52=)
c.113A=
c.62A=
c.-711A= (n.-711A=)
1g.17005527C>ACA338264999ATP13A2c.135G>T (p.Trp45Cys)
c.154G>T (p.Glu52Ter)
c.112G>T
c.61G>T
c.-712G>T (n.-712G>T)
1g.17005527C>GCA338264995ATP13A2c.135G>C (p.Trp45Cys)
c.154G>C (p.Glu52Gln)
c.112G>C
c.61G>C
c.-712G>C (n.-712G>C)
1g.17005527C>TCA338264997ATP13A2c.135G>A (p.Trp45Ter)
c.154G>A (p.Glu52Lys)
c.112G>A
c.61G>A
c.-712G>A (n.-712G>A)
1g.17005528C>ACA338265003ATP13A2c.134G>T (p.Trp45Leu)
c.153G>T (p.Met51Ile)
c.111G>T
c.60G>T
c.-713G>T (n.-713G>T)
1g.17005528C>GCA338265011ATP13A2c.134G>C (p.Trp45Ser)
c.153G>C (p.Met51Ile)
c.111G>C
c.60G>C
c.-713G>C (n.-713G>C)
1g.17005528C>TCA338265013ATP13A2c.134G>A (p.Trp45Ter)
c.153G>A (p.Met51Ile)
c.111G>A
c.60G>A
c.-713G>A (n.-713G>A)
1g.17005529A=CA1156068524ATP13A2c.133T= (p.Trp45=)
c.152T= (p.Met51=)
c.110T=
c.59T=
c.-714T= (n.-714T=)
1g.17005529A>CCA338265028ATP13A2c.133T>G (p.Trp45Gly)
c.152T>G (p.Met51Arg)
c.110T>G
c.59T>G
c.-714T>G (n.-714T>G)
1g.17005529A>GCA637750ATP13A2c.133T>C (p.Trp45Arg)
c.152T>C (p.Met51Thr)
c.110T>C
c.59T>C
c.-714T>C (n.-714T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.17005529A>TCA338265035ATP13A2c.133T>A (p.Trp45Arg)
c.152T>A (p.Met51Lys)
c.110T>A
c.59T>A
c.-714T>A (n.-714T>A)
 gnomAD v4
1g.17005530T>ACA416075529ATP13A2c.132A>T (p.Pro44=)
c.151A>T (p.Met51Leu)
c.109A>T
c.58A>T
c.-715A>T (n.-715A>T)
1g.17005530T>CCA637751ATP13A2c.132A>G (p.Pro44=)
c.151A>G (p.Met51Val)
c.109A>G
c.58A>G
c.-715A>G (n.-715A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17005530T>GCA416075528ATP13A2c.132A>C (p.Pro44=)
c.151A>C (p.Met51Leu)
c.109A>C
c.58A>C
c.-715A>C (n.-715A>C)
1g.17005530T=CA1143442165ATP13A2c.132A= (p.Pro44=)
c.151A= (p.Met51=)
c.109A=
c.58A=
c.-715A= (n.-715A=)
1g.17005531G>ACA338265041ATP13A2c.131C>T (p.Pro44Leu)
c.150C>T (p.Ser50=)
c.108C>T
c.57C>T
c.-716C>T (n.-716C>T)
 dbSNP
1g.17005531G>CCA338265046ATP13A2c.131C>G (p.Pro44Arg)
c.150C>G (p.Ser50=)
c.108C>G
c.57C>G
c.-716C>G (n.-716C>G)
1g.17005531G=CA1156068530ATP13A2c.131C= (p.Pro44=)
c.150C= (p.Ser50=)
c.108C=
c.57C=
c.-716C= (n.-716C=)
1g.17005531G>TCA338265047ATP13A2c.131C>A (p.Pro44Gln)
c.150C>A (p.Ser50=)
c.108C>A
c.57C>A
c.-716C>A (n.-716C>A)
1g.17005532G>ACA338265048ATP13A2c.130C>T (p.Pro44Ser)
c.149C>T (p.Ser50Phe)
c.107C>T
c.56C>T
c.-717C>T (n.-717C>T)
1g.17005532G>CCA338265049ATP13A2c.130C>G (p.Pro44Ala)
c.149C>G (p.Ser50Cys)
c.107C>G
c.56C>G
c.-717C>G (n.-717C>G)
1g.17005532G>TCA338265050ATP13A2c.130C>A (p.Pro44Thr)
c.149C>A (p.Ser50Tyr)
c.107C>A
c.56C>A
c.-717C>A (n.-717C>A)
1g.17005533A=CA1156068533ATP13A2c.129T= (p.Ser43=)
c.148T= (p.Ser50=)
c.106T=
c.55T=
c.-718T= (n.-718T=)
1g.17005533A>CCA338265051ATP13A2c.129T>G (p.Ser43Arg)
c.148T>G (p.Ser50Ala)
c.106T>G
c.55T>G
c.-718T>G (n.-718T>G)
1g.17005533A>GCA416075540ATP13A2c.129T>C (p.Ser43=)
c.148T>C (p.Ser50Pro)
c.106T>C
c.55T>C
c.-718T>C (n.-718T>C)
1g.17005533A>TCA338265054ATP13A2c.129T>A (p.Ser43Arg)
c.148T>A (p.Ser50Thr)
c.106T>A
c.55T>A
c.-718T>A (n.-718T>A)
1g.17005534C>ACA338265077ATP13A2c.128G>T (p.Ser43Ile)
c.147G>T (p.Gln49His)
c.105G>T
c.54G>T
c.-719G>T (n.-719G>T)
1g.17005534C=CA1142115623ATP13A2c.128G= (p.Ser43=)
c.147G= (p.Gln49=)
c.105G=
c.54G=
c.-719G= (n.-719G=)
1g.17005534C>GCA338265080ATP13A2c.128G>C (p.Ser43Thr)
c.147G>C (p.Gln49His)
c.105G>C
c.54G>C
c.-719G>C (n.-719G>C)
1g.17005534C>TCA338265082ATP13A2c.128G>A (p.Ser43Asn)
c.147G>A (p.Gln49=)
c.105G>A
c.54G>A
c.-719G>A (n.-719G>A)
1g.17005534dupCA18647127ATP13A2c.128dup (p.Ser43ArgfsTer?)
c.147dup (p.Ser50ValfsTer14)
c.105dup
c.54dup
c.-719dup (n.-719dup)
 dbSNP
1g.17005535T>ACA338265083ATP13A2c.127A>T (p.Ser43Cys)
c.146A>T (p.Gln49Leu)
c.104A>T
c.53A>T
c.-720A>T (n.-720A>T)
1g.17005535T>CCA338265085ATP13A2c.127A>G (p.Ser43Gly)
c.146A>G (p.Gln49Arg)
c.104A>G
c.53A>G
c.-720A>G (n.-720A>G)
1g.17005535T>GCA338265091ATP13A2c.127A>C (p.Ser43Arg)
c.146A>C (p.Gln49Pro)
c.104A>C
c.53A>C
c.-720A>C (n.-720A>C)
1g.17005536G>ACA416075553ATP13A2c.126C>T (p.Gly42=)
c.145C>T (p.Gln49Ter)
c.103C>T
c.52C>T
c.-721C>T (n.-721C>T)
1g.17005536G>CCA416075554ATP13A2c.126C>G (p.Gly42=)
c.145C>G (p.Gln49Glu)
c.103C>G
c.52C>G
c.-721C>G (n.-721C>G)
 ClinVar
1g.17005536G>TCA416075556ATP13A2c.126C>A (p.Gly42=)
c.145C>A (p.Gln49Lys)
c.103C>A
c.52C>A
c.-721C>A (n.-721C>A)
1g.17005537C>ACA338265098ATP13A2c.125G>T (p.Gly42Val)
c.144G>T (p.Trp48Cys)
c.102G>T
c.51G>T
c.-722G>T (n.-722G>T)
1g.17005537C>GCA338265094ATP13A2c.125G>C (p.Gly42Ala)
c.144G>C (p.Trp48Cys)
c.102G>C
c.51G>C
c.-722G>C (n.-722G>C)
1g.17005537C>TCA338265096ATP13A2c.125G>A (p.Gly42Asp)
c.144G>A (p.Trp48Ter)
c.102G>A
c.51G>A
c.-722G>A (n.-722G>A)
 gnomAD v4 COSMIC COSMIC
1g.17005538C>ACA338265100ATP13A2c.124G>T (p.Gly42Cys)
c.143G>T (p.Trp48Leu)
c.101G>T
c.50G>T
c.-723G>T (n.-723G>T)
1g.17005538C>GCA338265102ATP13A2c.124G>C (p.Gly42Arg)
c.143G>C (p.Trp48Ser)
c.101G>C
c.50G>C
c.-723G>C (n.-723G>C)
1g.17005538C>TCA338265104ATP13A2c.124G>A (p.Gly42Ser)
c.143G>A (p.Trp48Ter)
c.101G>A
c.50G>A
c.-723G>A (n.-723G>A)
1g.17005539A>CCA338265107ATP13A2c.123T>G (p.Cys41Trp)
c.142T>G (p.Trp48Gly)
c.100T>G
c.49T>G
c.-724T>G (n.-724T>G)
1g.17005539A>GCA416075566ATP13A2c.123T>C (p.Cys41=)
c.142T>C (p.Trp48Arg)
c.100T>C
c.49T>C
c.-724T>C (n.-724T>C)
1g.17005539A>TCA338265109ATP13A2c.123T>A (p.Cys41Ter)
c.142T>A (p.Trp48Arg)
c.100T>A
c.49T>A
c.-724T>A (n.-724T>A)
1g.17005540C>ACA338265112ATP13A2c.122G>T (p.Cys41Phe)
c.141G>T (p.Leu47=)
c.99G>T
c.48G>T
c.-725G>T (n.-725G>T)
 dbSNP gnomAD v2 gnomAD v4
1g.17005540C=CA1156068534ATP13A2c.122G= (p.Cys41=)
c.141G= (p.Leu47=)
c.99G=
c.48G=
c.-725G= (n.-725G=)
1g.17005540C>GCA338265118ATP13A2c.122G>C (p.Cys41Ser)
c.141G>C (p.Leu47=)
c.99G>C
c.48G>C
c.-725G>C (n.-725G>C)
1g.17005540C>TCA338265116ATP13A2c.122G>A (p.Cys41Tyr)
c.141G>A (p.Leu47=)
c.99G>A
c.48G>A
c.-725G>A (n.-725G>A)
1g.17005541A>CCA338265119ATP13A2c.121T>G (p.Cys41Gly)
c.140T>G (p.Leu47Arg)
c.98T>G
c.47T>G
c.-726T>G (n.-726T>G)
1g.17005541A>GCA338265121ATP13A2c.121T>C (p.Cys41Arg)
c.140T>C (p.Leu47Pro)
c.98T>C
c.47T>C
c.-726T>C (n.-726T>C)
1g.17005541A>TCA338265124ATP13A2c.121T>A (p.Cys41Ser)
c.140T>A (p.Leu47Gln)
c.98T>A
c.47T>A
c.-726T>A (n.-726T>A)
1g.17005542G>ACA416075578ATP13A2c.120C>T (p.Tyr40=)
c.139C>T (p.Leu47=)
c.97C>T
c.46C>T
c.-727C>T (n.-727C>T)
1g.17005542G>CCA338265127ATP13A2c.120C>G (p.Tyr40Ter)
c.139C>G (p.Leu47Val)
c.97C>G
c.46C>G
c.-727C>G (n.-727C>G)
1g.17005542G=CA1156068536ATP13A2c.120C= (p.Tyr40=)
c.139C= (p.Leu47=)
c.97C=
c.46C=
c.-727C= (n.-727C=)
1g.17005542G>TCA637752ATP13A2c.120C>A (p.Tyr40Ter)
c.139C>A (p.Leu47Met)
c.97C>A
c.46C>A
c.-727C>A (n.-727C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.17005543T>ACA338265129ATP13A2c.119A>T (p.Tyr40Phe)
c.138A>T (p.Leu46=)
c.96A>T
c.45A>T
c.-728A>T (n.-728A>T)
1g.17005543T>CCA338265130ATP13A2c.119A>G (p.Tyr40Cys)
c.138A>G (p.Leu46=)
c.96A>G
c.45A>G
c.-728A>G (n.-728A>G)
 gnomAD v4
1g.17005543T>GCA338265131ATP13A2c.119A>C (p.Tyr40Ser)
c.138A>C (p.Leu46=)
c.96A>C
c.45A>C
c.-728A>C (n.-728A>C)
1g.17005544A>CCA338265132ATP13A2c.118T>G (p.Tyr40Asp)
c.137T>G (p.Leu46Arg)
c.95T>G
c.44T>G
c.-729T>G (n.-729T>G)
1g.17005544A>GCA338265133ATP13A2c.118T>C (p.Tyr40His)
c.137T>C (p.Leu46Pro)
c.95T>C
c.44T>C
c.-729T>C (n.-729T>C)
1g.17005544A>TCA338265134ATP13A2c.118T>A (p.Tyr40Asn)
c.137T>A (p.Leu46Gln)
c.95T>A
c.44T>A
c.-729T>A (n.-729T>A)
1g.17005545G>ACA416075587ATP13A2c.117C>T (p.Gly39=)
c.136C>T (p.Leu46=)
c.94C>T
c.43C>T
c.-730C>T (n.-730C>T)
 gnomAD v4
1g.17005545G>CCA416075591ATP13A2c.117C>G (p.Gly39=)
c.136C>G (p.Leu46Val)
c.94C>G
c.43C>G
c.-730C>G (n.-730C>G)
1g.17005545G>TCA416075589ATP13A2c.117C>A (p.Gly39=)
c.136C>A (p.Leu46Ile)
c.94C>A
c.43C>A
c.-730C>A (n.-730C>A)
1g.17005546C>ACA338265135ATP13A2c.116G>T (p.Gly39Val)
c.135G>T (p.Arg45=)
c.93G>T
c.42G>T
c.-731G>T (n.-731G>T)
 gnomAD v4
1g.17005546C=CA1156068538ATP13A2c.116G= (p.Gly39=)
c.135G= (p.Arg45=)
c.93G=
c.42G=
c.-731G= (n.-731G=)
1g.17005546C>GCA338265137ATP13A2c.116G>C (p.Gly39Ala)
c.135G>C (p.Arg45=)
c.93G>C
c.42G>C
c.-731G>C (n.-731G>C)
 dbSNP gnomAD v3 gnomAD v4
1g.17005546C>TCA338265136ATP13A2c.116G>A (p.Gly39Asp)
c.135G>A (p.Arg45=)
c.93G>A
c.42G>A
c.-731G>A (n.-731G>A)
 dbSNP gnomAD v2 gnomAD v4
1g.17005547C>ACA338265138ATP13A2c.115G>T (p.Gly39Cys)
c.134G>T (p.Arg45Leu)
c.92G>T
c.41G>T
c.-732G>T (n.-732G>T)
 gnomAD v4
1g.17005547C=CA1156068541ATP13A2c.115G= (p.Gly39=)
c.134G= (p.Arg45=)
c.92G=
c.41G=
c.-732G= (n.-732G=)
1g.17005547C>GCA338265140ATP13A2c.115G>C (p.Gly39Arg)
c.134G>C (p.Arg45Pro)
c.92G>C
c.41G>C
c.-732G>C (n.-732G>C)
1g.17005547C>TCA338265139ATP13A2c.115G>A (p.Gly39Ser)
c.134G>A (p.Arg45Gln)
c.92G>A
c.41G>A
c.-732G>A (n.-732G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.17005548G>ACA637753ATP13A2c.114C>T (p.Ser38=)
c.133C>T (p.Arg45Trp)
c.91C>T
c.40C>T
c.-733C>T (n.-733C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17005548G>CCA338265147ATP13A2c.114C>G (p.Ser38Arg)
c.133C>G (p.Arg45Gly)
c.91C>G
c.40C>G
c.-733C>G (n.-733C>G)
 gnomAD v4
1g.17005548G=CA1143586183ATP13A2c.114C= (p.Ser38=)
c.133C= (p.Arg45=)
c.91C=
c.40C=
c.-733C= (n.-733C=)
1g.17005548G>TCA338265144ATP13A2c.114C>A (p.Ser38Arg)
c.133C>A (p.Arg45=)
c.91C>A
c.40C>A
c.-733C>A (n.-733C>A)
1g.17005549C>ACA338265154ATP13A2c.113G>T (p.Ser38Ile)
c.132G>T (p.Gln44His)
c.90G>T
c.39G>T
c.-734G>T (n.-734G>T)
1g.17005549C=CA1156068544ATP13A2c.113G= (p.Ser38=)
c.132G= (p.Gln44=)
c.90G=
c.39G=
c.-734G= (n.-734G=)
1g.17005549C>GCA338265160ATP13A2c.113G>C (p.Ser38Thr)
c.132G>C (p.Gln44His)
c.90G>C
c.39G>C
c.-734G>C (n.-734G>C)
1g.17005549C>TCA338265155ATP13A2c.113G>A (p.Ser38Asn)
c.132G>A (p.Gln44=)
c.90G>A
c.39G>A
c.-734G>A (n.-734G>A)
 dbSNP gnomAD v4
1g.17005550T>ACA338265163ATP13A2c.112A>T (p.Ser38Cys)
c.131A>T (p.Gln44Leu)
c.89A>T
c.38A>T
c.-735A>T (n.-735A>T)
1g.17005550T>CCA637754ATP13A2c.112A>G (p.Ser38Gly)
c.131A>G (p.Gln44Arg)
c.89A>G
c.38A>G
c.-735A>G (n.-735A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.17005550T>GCA338265172ATP13A2c.112A>C (p.Ser38Arg)
c.131A>C (p.Gln44Pro)
c.89A>C
c.38A>C
c.-735A>C (n.-735A>C)
1g.17005550T=CA1156068548ATP13A2c.112A= (p.Ser38=)
c.131A= (p.Gln44=)
c.89A=
c.38A=
c.-735A= (n.-735A=)
1g.17005551G>ACA416075615ATP13A2c.111C>T (p.Leu37=)
c.130C>T (p.Gln44Ter)
c.88C>T
c.37C>T
c.-736C>T (n.-736C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.17005551G>CCA416075617ATP13A2c.111C>G (p.Leu37=)
c.130C>G (p.Gln44Glu)
c.88C>G
c.37C>G
c.-736C>G (n.-736C>G)
1g.17005551G=CA1156068551ATP13A2c.111C= (p.Leu37=)
c.130C= (p.Gln44=)
c.88C=
c.37C=
c.-736C= (n.-736C=)
1g.17005551G>TCA416075619ATP13A2c.111C>A (p.Leu37=)
c.130C>A (p.Gln44Lys)
c.88C>A
c.37C>A
c.-736C>A (n.-736C>A)
1g.17005552A>CCA338265175ATP13A2c.110T>G (p.Leu37Arg)
c.129T>G (p.Ala43=)
c.87T>G
c.36T>G
c.-737T>G (n.-737T>G)
1g.17005552A>GCA338265176ATP13A2c.110T>C (p.Leu37Pro)
c.129T>C (p.Ala43=)
c.87T>C
c.36T>C
c.-737T>C (n.-737T>C)
1g.17005552A>TCA338265177ATP13A2c.110T>A (p.Leu37His)
c.129T>A (p.Ala43=)
c.87T>A
c.36T>A
c.-737T>A (n.-737T>A)
1g.17005553G>ACA338265178ATP13A2c.109C>T (p.Leu37Phe)
c.128C>T (p.Ala43Val)
c.86C>T
c.35C>T
c.-738C>T (n.-738C>T)
1g.17005553G>CCA338265179ATP13A2c.109C>G (p.Leu37Val)
c.128C>G (p.Ala43Gly)
c.86C>G
c.35C>G
c.-738C>G (n.-738C>G)
1g.17005553G>TCA338265180ATP13A2c.109C>A (p.Leu37Ile)
c.128C>A (p.Ala43Asp)
c.86C>A
c.35C>A
c.-738C>A (n.-738C>A)
1g.17005554C>ACA338265182ATP13A2c.108G>T (p.Arg36Ser)
c.127G>T (p.Ala43Ser)
c.85G>T
c.34G>T
c.-739G>T (n.-739G>T)
1g.17005554C>GCA338265183ATP13A2c.108G>C (p.Arg36Ser)
c.127G>C (p.Ala43Pro)
c.85G>C
c.34G>C
c.-739G>C (n.-739G>C)
1g.17005554C>TCA416075629ATP13A2c.108G>A (p.Arg36=)
c.127G>A (p.Ala43Thr)
c.85G>A
c.34G>A
c.-739G>A (n.-739G>A)
 gnomAD v4

Number of alleles fetched