Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.17005022G>ACA637684ATP13A2c.339C>T (p.Gly113=)
c.73C>T
c.316C>T
c.265C>T
c.51C>T (p.Gly17=)
c.-508C>T (n.-508C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17005022G>CCA416073569ATP13A2c.339C>G (p.Gly113=)
c.73C>G
c.316C>G
c.265C>G
c.51C>G (p.Gly17=)
c.-508C>G (n.-508C>G)
1g.17005022G=CA1142093795ATP13A2c.339C= (p.Gly113=)
c.73C=
c.316C=
c.265C=
c.51C= (p.Gly17=)
c.-508C= (n.-508C=)
1g.17005022G>TCA416073572ATP13A2c.339C>A (p.Gly113=)
c.73C>A
c.316C>A
c.265C>A
c.51C>A (p.Gly17=)
c.-508C>A (n.-508C>A)
1g.17005023C>ACA338263740ATP13A2c.338G>T (p.Gly113Val)
c.72G>T
c.315G>T
c.264G>T
c.50G>T (p.Gly17Val)
c.-509G>T (n.-509G>T)
 gnomAD v4
1g.17005023C>GCA338263737ATP13A2c.338G>C (p.Gly113Ala)
c.72G>C
c.315G>C
c.264G>C
c.50G>C (p.Gly17Ala)
c.-509G>C (n.-509G>C)
1g.17005023C>TCA338263738ATP13A2c.338G>A (p.Gly113Asp)
c.72G>A
c.315G>A
c.264G>A
c.50G>A (p.Gly17Asp)
c.-509G>A (n.-509G>A)
1g.17005024C>ACA637686ATP13A2c.337G>T (p.Gly113Cys)
c.71G>T
c.314G>T
c.263G>T
c.49G>T (p.Gly17Cys)
c.-510G>T (n.-510G>T)
 dbSNP ExAC gnomAD v2
1g.17005024C=CA1156072851ATP13A2c.337G= (p.Gly113=)
c.71G=
c.314G=
c.263G=
c.49G= (p.Gly17=)
c.-510G= (n.-510G=)
1g.17005024C>GCA338263743ATP13A2c.337G>C (p.Gly113Arg)
c.71G>C
c.314G>C
c.263G>C
c.49G>C (p.Gly17Arg)
c.-510G>C (n.-510G>C)
1g.17005024C>TCA637685ATP13A2c.337G>A (p.Gly113Ser)
c.71G>A
c.314G>A
c.263G>A
c.49G>A (p.Gly17Ser)
c.-510G>A (n.-510G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17005025G>ACA637687ATP13A2c.336C>T (p.Ile112=)
c.70C>T
c.313C>T
c.262C>T
c.48C>T (p.Ile16=)
c.-511C>T (n.-511C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17005025G>CCA338263746ATP13A2c.336C>G (p.Ile112Met)
c.70C>G
c.313C>G
c.262C>G
c.48C>G (p.Ile16Met)
c.-511C>G (n.-511C>G)
1g.17005025G=CA1143405276ATP13A2c.336C= (p.Ile112=)
c.70C=
c.313C=
c.262C=
c.48C= (p.Ile16=)
c.-511C= (n.-511C=)
1g.17005025G>TCA416073589ATP13A2c.336C>A (p.Ile112=)
c.70C>A
c.313C>A
c.262C>A
c.48C>A (p.Ile16=)
c.-511C>A (n.-511C>A)
1g.17005026A>CCA338263749ATP13A2c.335T>G (p.Ile112Ser)
c.69T>G
c.312T>G
c.261T>G
c.47T>G (p.Ile16Ser)
c.-512T>G (n.-512T>G)
1g.17005026A>GCA338263751ATP13A2c.335T>C (p.Ile112Thr)
c.69T>C
c.312T>C
c.261T>C
c.47T>C (p.Ile16Thr)
c.-512T>C (n.-512T>C)
1g.17005026A>TCA338263755ATP13A2c.335T>A (p.Ile112Asn)
c.69T>A
c.312T>A
c.261T>A
c.47T>A (p.Ile16Asn)
c.-512T>A (n.-512T>A)
1g.17005027T>ACA338263758ATP13A2c.334A>T (p.Ile112Phe)
c.68A>T
c.311A>T
c.260A>T
c.46A>T (p.Ile16Phe)
c.-513A>T (n.-513A>T)
1g.17005027T>CCA637688ATP13A2c.334A>G (p.Ile112Val)
c.68A>G
c.311A>G
c.260A>G
c.46A>G (p.Ile16Val)
c.-513A>G (n.-513A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.17005027T>GCA338263761ATP13A2c.334A>C (p.Ile112Leu)
c.68A>C
c.311A>C
c.260A>C
c.46A>C (p.Ile16Leu)
c.-513A>C (n.-513A>C)
1g.17005027T=CA1148454556ATP13A2c.334A= (p.Ile112=)
c.68A=
c.311A=
c.260A=
c.46A= (p.Ile16=)
c.-513A= (n.-513A=)
1g.17005028G>ACA416073608ATP13A2c.333C>T (p.Ala111=)
c.67C>T
c.310C>T
c.259C>T
c.45C>T (p.Ala15=)
c.-514C>T (n.-514C>T)
1g.17005028G>CCA416073610ATP13A2c.333C>G (p.Ala111=)
c.67C>G
c.310C>G
c.259C>G
c.45C>G (p.Ala15=)
c.-514C>G (n.-514C>G)
1g.17005028G>TCA416073605ATP13A2c.333C>A (p.Ala111=)
c.67C>A
c.310C>A
c.259C>A
c.45C>A (p.Ala15=)
c.-514C>A (n.-514C>A)
1g.17005029G>ACA338263766ATP13A2c.332C>T (p.Ala111Val)
c.66C>T
c.309C>T
c.258C>T
c.44C>T (p.Ala15Val)
c.-515C>T (n.-515C>T)
1g.17005029G>CCA338263765ATP13A2c.332C>G (p.Ala111Gly)
c.66C>G
c.309C>G
c.258C>G
c.44C>G (p.Ala15Gly)
c.-515C>G (n.-515C>G)
1g.17005029G>TCA338263764ATP13A2c.332C>A (p.Ala111Asp)
c.66C>A
c.309C>A
c.258C>A
c.44C>A (p.Ala15Asp)
c.-515C>A (n.-515C>A)
1g.17005030C>ACA338263767ATP13A2c.331G>T (p.Ala111Ser)
c.65G>T
c.308G>T
c.257G>T
c.43G>T (p.Ala15Ser)
c.-516G>T (n.-516G>T)
1g.17005030C=CA1156072860ATP13A2c.331G= (p.Ala111=)
c.65G=
c.308G=
c.257G=
c.43G= (p.Ala15=)
c.-516G= (n.-516G=)
1g.17005030C>GCA338263768ATP13A2c.331G>C (p.Ala111Pro)
c.65G>C
c.308G>C
c.257G>C
c.43G>C (p.Ala15Pro)
c.-516G>C (n.-516G>C)
1g.17005030C>TCA338263769ATP13A2c.331G>A (p.Ala111Thr)
c.65G>A
c.308G>A
c.257G>A
c.43G>A (p.Ala15Thr)
c.-516G>A (n.-516G>A)
 dbSNP
1g.17005031C>ACA338263770ATP13A2c.330G>T (p.Glu110Asp)
c.64G>T
c.307G>T
c.256G>T
c.42G>T (p.Glu14Asp)
c.-517G>T (n.-517G>T)
1g.17005031C>GCA338263771ATP13A2c.330G>C (p.Glu110Asp)
c.64G>C
c.307G>C
c.256G>C
c.42G>C (p.Glu14Asp)
c.-517G>C (n.-517G>C)
 gnomAD v4
1g.17005031C>TCA416073636ATP13A2c.330G>A (p.Glu110=)
c.64G>A
c.307G>A
c.256G>A
c.42G>A (p.Glu14=)
c.-517G>A (n.-517G>A)
1g.17005032T>ACA338263773ATP13A2c.329A>T (p.Glu110Val)
c.63A>T
c.306A>T
c.255A>T
c.41A>T (p.Glu14Val)
c.-518A>T (n.-518A>T)
1g.17005032T>CCA338263774ATP13A2c.329A>G (p.Glu110Gly)
c.63A>G
c.306A>G
c.255A>G
c.41A>G (p.Glu14Gly)
c.-518A>G (n.-518A>G)
 gnomAD v4
1g.17005032T>GCA338263775ATP13A2c.329A>C (p.Glu110Ala)
c.63A>C
c.306A>C
c.255A>C
c.41A>C (p.Glu14Ala)
c.-518A>C (n.-518A>C)
1g.17005033C>ACA338263776ATP13A2c.328G>T (p.Glu110Ter)
c.62G>T
c.305G>T
c.254G>T
c.40G>T (p.Glu14Ter)
c.-519G>T (n.-519G>T)
1g.17005033C>GCA338263777ATP13A2c.328G>C (p.Glu110Gln)
c.62G>C
c.305G>C
c.254G>C
c.40G>C (p.Glu14Gln)
c.-519G>C (n.-519G>C)
1g.17005033C>TCA338263778ATP13A2c.328G>A (p.Glu110Lys)
c.62G>A
c.305G>A
c.254G>A
c.40G>A (p.Glu14Lys)
c.-519G>A (n.-519G>A)
1g.17005034A=CA1156072864ATP13A2c.327T= (p.Thr109=)
c.61T=
c.304T=
c.253T=
c.39T= (p.Thr13=)
c.-520T= (n.-520T=)
1g.17005034A>CCA416073656ATP13A2c.327T>G (p.Thr109=)
c.61T>G
c.304T>G
c.253T>G
c.39T>G (p.Thr13=)
c.-520T>G (n.-520T>G)
1g.17005034A>GCA416073659ATP13A2c.327T>C (p.Thr109=)
c.61T>C
c.304T>C
c.253T>C
c.39T>C (p.Thr13=)
c.-520T>C (n.-520T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.17005034A>TCA416073662ATP13A2c.327T>A (p.Thr109=)
c.61T>A
c.304T>A
c.253T>A
c.39T>A (p.Thr13=)
c.-520T>A (n.-520T>A)
1g.17005035G>ACA338263779ATP13A2c.326C>T (p.Thr109Ile)
c.60C>T
c.303C>T
c.252C>T
c.38C>T (p.Thr13Ile)
c.-521C>T (n.-521C>T)
1g.17005035G>CCA338263781ATP13A2c.326C>G (p.Thr109Ser)
c.60C>G
c.303C>G
c.252C>G
c.38C>G (p.Thr13Ser)
c.-521C>G (n.-521C>G)
1g.17005035G>TCA338263784ATP13A2c.326C>A (p.Thr109Asn)
c.60C>A
c.303C>A
c.252C>A
c.38C>A (p.Thr13Asn)
c.-521C>A (n.-521C>A)
1g.17005036T>ACA338263787ATP13A2c.325A>T (p.Thr109Ser)
c.59A>T
c.302A>T
c.251A>T
c.37A>T (p.Thr13Ser)
c.-522A>T (n.-522A>T)
1g.17005036T>CCA338263788ATP13A2c.325A>G (p.Thr109Ala)
c.59A>G
c.302A>G
c.251A>G
c.37A>G (p.Thr13Ala)
c.-522A>G (n.-522A>G)
1g.17005036T>GCA338263786ATP13A2c.325A>C (p.Thr109Pro)
c.59A>C
c.302A>C
c.251A>C
c.37A>C (p.Thr13Pro)
c.-522A>C (n.-522A>C)
1g.17005037C>ACA338263789ATP13A2c.324G>T (p.Gln108His)
c.58G>T
c.301G>T
c.250G>T
c.36G>T (p.Gln12His)
c.-523G>T (n.-523G>T)
1g.17005037C>GCA338263790ATP13A2c.324G>C (p.Gln108His)
c.58G>C
c.301G>C
c.250G>C
c.36G>C (p.Gln12His)
c.-523G>C (n.-523G>C)
1g.17005037C>TCA416073681ATP13A2c.324G>A (p.Gln108=)
c.58G>A
c.301G>A
c.250G>A
c.36G>A (p.Gln12=)
c.-523G>A (n.-523G>A)
 gnomAD v4
1g.17005038T>ACA338263791ATP13A2c.323A>T (p.Gln108Leu)
c.57A>T
c.300A>T
c.249A>T
c.35A>T (p.Gln12Leu)
c.-524A>T (n.-524A>T)
1g.17005038T>CCA338263792ATP13A2c.323A>G (p.Gln108Arg)
c.57A>G
c.300A>G
c.249A>G
c.35A>G (p.Gln12Arg)
c.-524A>G (n.-524A>G)
1g.17005038T>GCA338263793ATP13A2c.323A>C (p.Gln108Pro)
c.57A>C
c.300A>C
c.249A>C
c.35A>C (p.Gln12Pro)
c.-524A>C (n.-524A>C)
1g.17005039G>ACA338263798ATP13A2c.322C>T (p.Gln108Ter)
c.56C>T
c.299C>T
c.248C>T
c.34C>T (p.Gln12Ter)
c.-525C>T (n.-525C>T)
1g.17005039G>CCA338263800ATP13A2c.322C>G (p.Gln108Glu)
c.56C>G
c.299C>G
c.248C>G
c.34C>G (p.Gln12Glu)
c.-525C>G (n.-525C>G)
1g.17005039G>TCA338263801ATP13A2c.322C>A (p.Gln108Lys)
c.56C>A
c.299C>A
c.248C>A
c.34C>A (p.Gln12Lys)
c.-525C>A (n.-525C>A)
1g.17005040C>ACA416073698ATP13A2c.321G>T (p.Val107=)
c.55G>T
c.298G>T
c.247G>T
c.33G>T (p.Val11=)
c.-526G>T (n.-526G>T)
1g.17005040C>GCA416073704ATP13A2c.321G>C (p.Val107=)
c.55G>C
c.298G>C
c.247G>C
c.33G>C (p.Val11=)
c.-526G>C (n.-526G>C)
1g.17005040C>TCA416073701ATP13A2c.321G>A (p.Val107=)
c.55G>A
c.298G>A
c.247G>A
c.33G>A (p.Val11=)
c.-526G>A (n.-526G>A)
1g.17005041A>CCA338263804ATP13A2c.320T>G (p.Val107Gly)
c.54T>G
c.297T>G
c.246T>G
c.32T>G (p.Val11Gly)
c.-527T>G (n.-527T>G)
1g.17005041A>GCA338263806ATP13A2c.320T>C (p.Val107Ala)
c.54T>C
c.297T>C
c.246T>C
c.32T>C (p.Val11Ala)
c.-527T>C (n.-527T>C)
1g.17005041A>TCA338263808ATP13A2c.320T>A (p.Val107Glu)
c.54T>A
c.297T>A
c.246T>A
c.32T>A (p.Val11Glu)
c.-527T>A (n.-527T>A)
1g.17005042C>ACA338263811ATP13A2c.319G>T (p.Val107Leu)
c.53G>T
c.296G>T
c.245G>T
c.31G>T (p.Val11Leu)
c.-528G>T (n.-528G>T)
1g.17005042C>GCA338263814ATP13A2c.319G>C (p.Val107Leu)
c.53G>C
c.296G>C
c.245G>C
c.31G>C (p.Val11Leu)
c.-528G>C (n.-528G>C)
1g.17005042C>TCA338263817ATP13A2c.319G>A (p.Val107Met)
c.53G>A
c.296G>A
c.245G>A
c.31G>A (p.Val11Met)
c.-528G>A (n.-528G>A)
1g.17005043C>ACA338263820ATP13A2c.318G>T (p.Gln106His)
c.52G>T
c.295G>T
c.244G>T
c.30G>T (p.Gln10His)
c.-529G>T (n.-529G>T)
 COSMIC COSMIC
1g.17005043C=CA1156072869ATP13A2c.318G= (p.Gln106=)
c.52G=
c.295G=
c.244G=
c.30G= (p.Gln10=)
c.-529G= (n.-529G=)
1g.17005043C>GCA338263822ATP13A2c.318G>C (p.Gln106His)
c.52G>C
c.295G>C
c.244G>C
c.30G>C (p.Gln10His)
c.-529G>C (n.-529G>C)
1g.17005043C>TCA416073722ATP13A2c.318G>A (p.Gln106=)
c.52G>A
c.295G>A
c.244G>A
c.30G>A (p.Gln10=)
c.-529G>A (n.-529G>A)
 dbSNP
1g.17005044T>ACA338263824ATP13A2c.317A>T (p.Gln106Leu)
c.51A>T
c.294A>T
c.243A>T
c.29A>T (p.Gln10Leu)
c.-530A>T (n.-530A>T)
1g.17005044T>CCA338263825ATP13A2c.317A>G (p.Gln106Arg)
c.51A>G
c.294A>G
c.243A>G
c.29A>G (p.Gln10Arg)
c.-530A>G (n.-530A>G)
1g.17005044T>GCA338263832ATP13A2c.317A>C (p.Gln106Pro)
c.51A>C
c.294A>C
c.243A>C
c.29A>C (p.Gln10Pro)
c.-530A>C (n.-530A>C)
1g.17005045G>ACA338263834ATP13A2c.316C>T (p.Gln106Ter)
c.50C>T
c.293C>T
c.242C>T
c.28C>T (p.Gln10Ter)
c.-531C>T (n.-531C>T)
 dbSNP
1g.17005045G>CCA338263835ATP13A2c.316C>G (p.Gln106Glu)
c.50C>G
c.293C>G
c.242C>G
c.28C>G (p.Gln10Glu)
c.-531C>G (n.-531C>G)
1g.17005045G=CA1156072873ATP13A2c.316C= (p.Gln106=)
c.50C=
c.293C=
c.242C=
c.28C= (p.Gln10=)
c.-531C= (n.-531C=)
1g.17005045G>TCA338263836ATP13A2c.316C>A (p.Gln106Lys)
c.50C>A
c.293C>A
c.242C>A
c.28C>A (p.Gln10Lys)
c.-531C>A (n.-531C>A)
1g.17005046G>ACA416073764ATP13A2c.315C>T (p.Val105=)
c.49C>T
c.292C>T
c.241C>T
c.27C>T (p.Val9=)
c.-532C>T (n.-532C>T)
 dbSNP
1g.17005046G>CCA416073766ATP13A2c.315C>G (p.Val105=)
c.49C>G
c.292C>G
c.241C>G
c.27C>G (p.Val9=)
c.-532C>G (n.-532C>G)
1g.17005046G=CA1156072875ATP13A2c.315C= (p.Val105=)
c.49C=
c.292C=
c.241C=
c.27C= (p.Val9=)
c.-532C= (n.-532C=)
1g.17005046G>TCA416073768ATP13A2c.315C>A (p.Val105=)
c.49C>A
c.292C>A
c.241C>A
c.27C>A (p.Val9=)
c.-532C>A (n.-532C>A)
1g.17005047A>CCA338263837ATP13A2c.314T>G (p.Val105Gly)
c.48T>G
c.291T>G
c.240T>G
c.26T>G (p.Val9Gly)
c.-533T>G (n.-533T>G)
1g.17005047A>GCA338263839ATP13A2c.314T>C (p.Val105Ala)
c.48T>C
c.291T>C
c.240T>C
c.26T>C (p.Val9Ala)
c.-533T>C (n.-533T>C)
1g.17005047A>TCA338263841ATP13A2c.314T>A (p.Val105Asp)
c.48T>A
c.291T>A
c.240T>A
c.26T>A (p.Val9Asp)
c.-533T>A (n.-533T>A)
1g.17005048C>ACA338263842ATP13A2c.313G>T (p.Val105Phe)
c.47G>T
c.290G>T
c.239G>T
c.25G>T (p.Val9Phe)
c.-534G>T (n.-534G>T)
1g.17005048C=CA1156072877ATP13A2c.313G= (p.Val105=)
c.47G=
c.290G=
c.239G=
c.25G= (p.Val9=)
c.-534G= (n.-534G=)
1g.17005048C>GCA338263843ATP13A2c.313G>C (p.Val105Leu)
c.47G>C
c.290G>C
c.239G>C
c.25G>C (p.Val9Leu)
c.-534G>C (n.-534G>C)
1g.17005048C>TCA338263848ATP13A2c.313G>A (p.Val105Ile)
c.47G>A
c.290G>A
c.239G>A
c.25G>A (p.Val9Ile)
c.-534G>A (n.-534G>A)
 dbSNP gnomAD v2 gnomAD v4
1g.17005049A>CCA416073800ATP13A2c.312T>G (p.Thr104=)
c.46T>G
c.289T>G
c.238T>G
c.24T>G (p.Thr8=)
c.-535T>G (n.-535T>G)
1g.17005049A>GCA416073805ATP13A2c.312T>C (p.Thr104=)
c.46T>C
c.289T>C
c.238T>C
c.24T>C (p.Thr8=)
c.-535T>C (n.-535T>C)
1g.17005049A>TCA416073807ATP13A2c.312T>A (p.Thr104=)
c.46T>A
c.289T>A
c.238T>A
c.24T>A (p.Thr8=)
c.-535T>A (n.-535T>A)
1g.17005050G>ACA338263853ATP13A2c.311C>T (p.Thr104Ile)
c.45C>T
c.288C>T
c.237C>T
c.23C>T (p.Thr8Ile)
c.-536C>T (n.-536C>T)
1g.17005050G>CCA338263857ATP13A2c.311C>G (p.Thr104Ser)
c.45C>G
c.288C>G
c.237C>G
c.23C>G (p.Thr8Ser)
c.-536C>G (n.-536C>G)
1g.17005050G>TCA338263851ATP13A2c.311C>A (p.Thr104Asn)
c.45C>A
c.288C>A
c.237C>A
c.23C>A (p.Thr8Asn)
c.-536C>A (n.-536C>A)
1g.17005051T>ACA338263859ATP13A2c.310A>T (p.Thr104Ser)
c.44A>T
c.287A>T
c.236A>T
c.22A>T (p.Thr8Ser)
c.-537A>T (n.-537A>T)
1g.17005051T>CCA338263864ATP13A2c.310A>G (p.Thr104Ala)
c.44A>G
c.287A>G
c.236A>G
c.22A>G (p.Thr8Ala)
c.-537A>G (n.-537A>G)
1g.17005051T>GCA338263861ATP13A2c.310A>C (p.Thr104Pro)
c.44A>C
c.287A>C
c.236A>C
c.22A>C (p.Thr8Pro)
c.-537A>C (n.-537A>C)
1g.17005052G>ACA416073826ATP13A2c.309C>T (p.Phe103=)
c.43C>T
c.286C>T
c.235C>T
c.21C>T (p.Phe7=)
c.-538C>T (n.-538C>T)
 gnomAD v4
1g.17005052G>CCA338263865ATP13A2c.309C>G (p.Phe103Leu)
c.43C>G
c.286C>G
c.235C>G
c.21C>G (p.Phe7Leu)
c.-538C>G (n.-538C>G)
 dbSNP
1g.17005052G=CA1156072879ATP13A2c.309C= (p.Phe103=)
c.43C=
c.286C=
c.235C=
c.21C= (p.Phe7=)
c.-538C= (n.-538C=)
1g.17005052G>TCA338263868ATP13A2c.309C>A (p.Phe103Leu)
c.43C>A
c.286C>A
c.235C>A
c.21C>A (p.Phe7Leu)
c.-538C>A (n.-538C>A)
1g.17005053A>CCA338263873ATP13A2c.308T>G (p.Phe103Cys)
c.42T>G
c.285T>G
c.234T>G
c.20T>G (p.Phe7Cys)
c.-539T>G (n.-539T>G)
1g.17005053A>GCA338263875ATP13A2c.308T>C (p.Phe103Ser)
c.42T>C
c.285T>C
c.234T>C
c.20T>C (p.Phe7Ser)
c.-539T>C (n.-539T>C)
1g.17005053A>TCA338263876ATP13A2c.308T>A (p.Phe103Tyr)
c.42T>A
c.285T>A
c.234T>A
c.20T>A (p.Phe7Tyr)
c.-539T>A (n.-539T>A)
1g.17005054A>CCA338263878ATP13A2c.307T>G (p.Phe103Val)
c.41T>G
c.284T>G
c.233T>G
c.19T>G (p.Phe7Val)
c.-540T>G (n.-540T>G)
1g.17005054A>GCA338263880ATP13A2c.307T>C (p.Phe103Leu)
c.41T>C
c.284T>C
c.233T>C
c.19T>C (p.Phe7Leu)
c.-540T>C (n.-540T>C)
1g.17005054A>TCA338263881ATP13A2c.307T>A (p.Phe103Ile)
c.41T>A
c.284T>A
c.233T>A
c.19T>A (p.Phe7Ile)
c.-540T>A (n.-540T>A)
1g.17005055G>ACA416073847ATP13A2c.306C>T (p.Leu102=)
c.40C>T
c.283C>T
c.232C>T
c.18C>T (p.Leu6=)
c.-541C>T (n.-541C>T)
1g.17005055G>CCA416073861ATP13A2c.306C>G (p.Leu102=)
c.40C>G
c.283C>G
c.232C>G
c.18C>G (p.Leu6=)
c.-541C>G (n.-541C>G)
1g.17005055G>TCA416073859ATP13A2c.306C>A (p.Leu102=)
c.40C>A
c.283C>A
c.232C>A
c.18C>A (p.Leu6=)
c.-541C>A (n.-541C>A)
1g.17005056A>CCA338263891ATP13A2c.305T>G (p.Leu102Arg)
c.39T>G
c.282T>G
c.231T>G
c.17T>G (p.Leu6Arg)
c.-542T>G (n.-542T>G)
1g.17005056A>GCA338263883ATP13A2c.305T>C (p.Leu102Pro)
c.39T>C
c.282T>C
c.231T>C
c.17T>C (p.Leu6Pro)
c.-542T>C (n.-542T>C)
1g.17005056A>TCA338263885ATP13A2c.305T>A (p.Leu102His)
c.39T>A
c.282T>A
c.231T>A
c.17T>A (p.Leu6His)
c.-542T>A (n.-542T>A)
1g.17005057G>ACA637689ATP13A2c.304C>T (p.Leu102Phe)
c.38C>T
c.281C>T
c.230C>T
c.16C>T (p.Leu6Phe)
c.-543C>T (n.-543C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.17005057G>CCA338263898ATP13A2c.304C>G (p.Leu102Val)
c.38C>G
c.281C>G
c.230C>G
c.16C>G (p.Leu6Val)
c.-543C>G (n.-543C>G)
1g.17005057G=CA1156072884ATP13A2c.304C= (p.Leu102=)
c.38C=
c.281C=
c.230C=
c.16C= (p.Leu6=)
c.-543C= (n.-543C=)
1g.17005057G>TCA338263900ATP13A2c.304C>A (p.Leu102Ile)
c.38C>A
c.281C>A
c.230C>A
c.16C>A (p.Leu6Ile)
c.-543C>A (n.-543C>A)
1g.17005058C>ACA338263902ATP13A2c.303G>T (p.Gln101His)
c.37G>T
c.280G>T
c.229G>T
c.15G>T (p.Gln5His)
c.-544G>T (n.-544G>T)
 gnomAD v4
1g.17005058C>GCA338263903ATP13A2c.303G>C (p.Gln101His)
c.37G>C
c.280G>C
c.229G>C
c.15G>C (p.Gln5His)
c.-544G>C (n.-544G>C)
 gnomAD v4
1g.17005058C>TCA416074601ATP13A2c.303G>A (p.Gln101=)
c.37G>A
c.280G>A
c.229G>A
c.15G>A (p.Gln5=)
c.-544G>A (n.-544G>A)
1g.17005059T>ACA338263909ATP13A2c.302A>T (p.Gln101Leu)
c.36A>T
c.279A>T
c.228A>T
c.14A>T (p.Gln5Leu)
c.-545A>T (n.-545A>T)
1g.17005059T>CCA338263915ATP13A2c.302A>G (p.Gln101Arg)
c.36A>G
c.279A>G
c.228A>G
c.14A>G (p.Gln5Arg)
c.-545A>G (n.-545A>G)
1g.17005059T>GCA338263912ATP13A2c.302A>C (p.Gln101Pro)
c.36A>C
c.279A>C
c.228A>C
c.14A>C (p.Gln5Pro)
c.-545A>C (n.-545A>C)
1g.17005060G>ACA338263919ATP13A2c.301C>T (p.Gln101Ter)
c.35C>T
c.278C>T
c.227C>T
c.13C>T (p.Gln5Ter)
c.-546C>T (n.-546C>T)
1g.17005060G>CCA338263925ATP13A2c.301C>G (p.Gln101Glu)
c.35C>G
c.278C>G
c.227C>G
c.13C>G (p.Gln5Glu)
c.-546C>G (n.-546C>G)
1g.17005060G=CA1156072887ATP13A2c.301C= (p.Gln101=)
c.35C=
c.278C=
c.227C=
c.13C= (p.Gln5=)
c.-546C= (n.-546C=)
1g.17005060G>TCA338263926ATP13A2c.301C>A (p.Gln101Lys)
c.35C>A
c.278C>A
c.227C>A
c.13C>A (p.Gln5Lys)
c.-546C>A (n.-546C>A)
 dbSNP gnomAD v4
1g.17005061C>ACA338263930ATP13A2c.300G>T (p.Trp100Cys)
c.34G>T
c.277G>T
c.226G>T
c.12G>T (p.Trp4Cys)
c.-547G>T (n.-547G>T)
1g.17005061C>GCA338263932ATP13A2c.300G>C (p.Trp100Cys)
c.34G>C
c.277G>C
c.226G>C
c.12G>C (p.Trp4Cys)
c.-547G>C (n.-547G>C)
1g.17005061C>TCA338263937ATP13A2c.300G>A (p.Trp100Ter)
c.34G>A
c.277G>A
c.226G>A
c.12G>A (p.Trp4Ter)
c.-547G>A (n.-547G>A)
1g.17005062dupCA637690ATP13A2c.300dup (p.Gln101AlafsTer10)
c.34dup
c.277dup
c.226dup
c.12dup (p.Gln5AlafsTer10)
c.-547dup (n.-547dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17005062C>ACA338263941ATP13A2c.299G>T (p.Trp100Leu)
c.33G>T
c.276G>T
c.225G>T
c.11G>T (p.Trp4Leu)
c.-548G>T (n.-548G>T)
1g.17005062C>GCA338263942ATP13A2c.299G>C (p.Trp100Ser)
c.33G>C
c.276G>C
c.225G>C
c.11G>C (p.Trp4Ser)
c.-548G>C (n.-548G>C)
1g.17005062C>TCA338263944ATP13A2c.299G>A (p.Trp100Ter)
c.33G>A
c.276G>A
c.225G>A
c.11G>A (p.Trp4Ter)
c.-548G>A (n.-548G>A)
1g.17005063A=CA1156072894ATP13A2c.298T= (p.Trp100=)
c.32T=
c.275T=
c.224T=
c.10T= (p.Trp4=)
c.-549T= (n.-549T=)
1g.17005063A>CCA338263946ATP13A2c.298T>G (p.Trp100Gly)
c.32T>G
c.275T>G
c.224T>G
c.10T>G (p.Trp4Gly)
c.-549T>G (n.-549T>G)
1g.17005063A>GCA338263945ATP13A2c.298T>C (p.Trp100Arg)
c.32T>C
c.275T>C
c.224T>C
c.10T>C (p.Trp4Arg)
c.-549T>C (n.-549T>C)
1g.17005063A>TCA637691ATP13A2c.298T>A (p.Trp100Arg)
c.32T>A
c.275T>A
c.224T>A
c.10T>A (p.Trp4Arg)
c.-549T>A (n.-549T>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17005064G>ACA416074630ATP13A2c.297C>T (p.Ser99=)
c.31C>T
c.274C>T
c.223C>T
c.9C>T (p.Ser3=)
c.-550C>T (n.-550C>T)
 COSMIC COSMIC
1g.17005064G>CCA416074631ATP13A2c.297C>G (p.Ser99=)
c.31C>G
c.274C>G
c.223C>G
c.9C>G (p.Ser3=)
c.-550C>G (n.-550C>G)
1g.17005064G>TCA416074632ATP13A2c.297C>A (p.Ser99=)
c.31C>A
c.274C>A
c.223C>A
c.9C>A (p.Ser3=)
c.-550C>A (n.-550C>A)
1g.17005065delCA2508154014ATP13A2c.297del (p.Trp100GlyfsTer?)
c.31del
c.274del
c.223del
c.9del (p.Trp4GlyfsTer?)
c.-550del (n.-550del)
1g.17005065G>ACA338263948ATP13A2c.296C>T (p.Ser99Phe)
c.30C>T
c.273C>T
c.222C>T
c.8C>T (p.Ser3Phe)
c.-551C>T (n.-551C>T)
 COSMIC COSMIC
1g.17005065G>CCA338263949ATP13A2c.296C>G (p.Ser99Cys)
c.30C>G
c.273C>G
c.222C>G
c.8C>G (p.Ser3Cys)
c.-551C>G (n.-551C>G)
1g.17005065G>TCA338263951ATP13A2c.296C>A (p.Ser99Tyr)
c.30C>A
c.273C>A
c.222C>A
c.8C>A (p.Ser3Tyr)
c.-551C>A (n.-551C>A)
1g.17005066A>CCA338263953ATP13A2c.295T>G (p.Ser99Ala)
c.29T>G
c.272T>G
c.221T>G
c.7T>G (p.Ser3Ala)
c.-552T>G (n.-552T>G)
1g.17005066A>GCA338263954ATP13A2c.295T>C (p.Ser99Pro)
c.29T>C
c.272T>C
c.221T>C
c.7T>C (p.Ser3Pro)
c.-552T>C (n.-552T>C)
 gnomAD v4
1g.17005066A>TCA338263955ATP13A2c.295T>A (p.Ser99Thr)
c.29T>A
c.272T>A
c.221T>A
c.7T>A (p.Ser3Thr)
c.-552T>A (n.-552T>A)
1g.17005067A>CCA338263956ATP13A2c.294T>G (p.Ser98Arg)
c.28T>G
c.271T>G
c.220T>G
c.6T>G (p.Ser2Arg)
c.-553T>G (n.-553T>G)
1g.17005067A>GCA416074639ATP13A2c.294T>C (p.Ser98=)
c.28T>C
c.271T>C
c.220T>C
c.6T>C (p.Ser2=)
c.-553T>C (n.-553T>C)
1g.17005067A>TCA338263957ATP13A2c.294T>A (p.Ser98Arg)
c.28T>A
c.271T>A
c.220T>A
c.6T>A (p.Ser2Arg)
c.-553T>A (n.-553T>A)
1g.17005068C>ACA338263958ATP13A2c.293G>T (p.Ser98Ile)
c.312G>T (p.Ter104Tyr)
c.27G>T
c.270G>T
c.219G>T
c.5G>T (p.Ser2Ile)
c.-554G>T (n.-554G>T)
1g.17005068C>GCA338263959ATP13A2c.293G>C (p.Ser98Thr)
c.312G>C (p.Ter104Tyr)
c.27G>C
c.270G>C
c.219G>C
c.5G>C (p.Ser2Thr)
c.-554G>C (n.-554G>C)
1g.17005068C>TCA338263960ATP13A2c.293G>A (p.Ser98Asn)
c.312G>A (p.Ter104=)
c.27G>A
c.270G>A
c.219G>A
c.5G>A (p.Ser2Asn)
c.-554G>A (n.-554G>A)
1g.17005069T>ACA338263961ATP13A2c.292A>T (p.Ser98Cys)
c.311A>T (p.Ter104Leu)
c.26A>T
c.269A>T
c.218A>T
c.4A>T (p.Ser2Cys)
c.-555A>T (n.-555A>T)
1g.17005069T>CCA338263963ATP13A2c.292A>G (p.Ser98Gly)
c.311A>G (p.Ter104Trp)
c.26A>G
c.269A>G
c.218A>G
c.4A>G (p.Ser2Gly)
c.-555A>G (n.-555A>G)
1g.17005069T>GCA338263964ATP13A2c.292A>C (p.Ser98Arg)
c.311A>C (p.Ter104Ser)
c.26A>C
c.269A>C
c.218A>C
c.4A>C (p.Ser2Arg)
c.-555A>C (n.-555A>C)
1g.17005070A>CCA338263965ATP13A2c.291T>G (p.Asp97Glu)
c.310T>G (p.Ter104Glu)
c.25T>G
c.268T>G
c.217T>G
c.3T>G (p.Asp1Glu)
c.-556T>G (n.-556T>G)
1g.17005070A>GCA416074649ATP13A2c.291T>C (p.Asp97=)
c.310T>C (p.Ter104Gln)
c.25T>C
c.268T>C
c.217T>C
c.3T>C (p.Asp1=)
c.-556T>C (n.-556T>C)
1g.17005070A>TCA338263966ATP13A2c.291T>A (p.Asp97Glu)
c.310T>A (p.Ter104Lys)
c.25T>A
c.268T>A
c.217T>A
c.3T>A (p.Asp1Glu)
c.-556T>A (n.-556T>A)
1g.17005071T>ACA338263968ATP13A2c.290A>T (p.Asp97Val)
c.309A>T (p.Gly103=)
c.24A>T
c.267A>T
c.216A>T
c.2A>T (p.Asp1Val)
c.-557A>T (n.-557A>T)
1g.17005071T>CCA338263969ATP13A2c.290A>G (p.Asp97Gly)
c.309A>G (p.Gly103=)
c.24A>G
c.267A>G
c.216A>G
c.2A>G (p.Asp1Gly)
c.-557A>G (n.-557A>G)
 gnomAD v4
1g.17005071T>GCA338263970ATP13A2c.290A>C (p.Asp97Ala)
c.309A>C (p.Gly103=)
c.24A>C
c.267A>C
c.216A>C
c.2A>C (p.Asp1Ala)
c.-557A>C (n.-557A>C)
1g.17005072C>ACA338263971ATP13A2c.289G>T (p.Asp97Tyr)
c.308G>T (p.Gly103Val)
c.23G>T
c.266G>T
c.215G>T
c.1G>T (p.Asp1Tyr)
c.-558G>T (n.-558G>T)
1g.17005072C>GCA338263973ATP13A2c.289G>C (p.Asp97His)
c.308G>C (p.Gly103Ala)
c.23G>C
c.266G>C
c.215G>C
c.1G>C (p.Asp1His)
c.-558G>C (n.-558G>C)
 gnomAD v4
1g.17005072C>TCA338263974ATP13A2c.289G>A (p.Asp97Asn)
c.308G>A (p.Gly103Glu)
c.23G>A
c.266G>A
c.215G>A
c.1G>A (p.Asp1Asn)
c.-558G>A (n.-558G>A)
1g.17005073C>ACA338263976ATP13A2c.289-1G>T (n.289-1G>T)
c.308-1G>T (n.308-1G>T)
c.23-1G>T
c.266-1G>T
c.215-1G>T
c.-558-1G>T (n.-558-1G>T)
1g.17005073C=CA1156072897ATP13A2c.289-1G= (n.289-1G=)
c.308-1G= (n.308-1G=)
c.23-1G=
c.266-1G=
c.215-1G=
c.-558-1G= (n.-558-1G=)
1g.17005073C>GCA338263978ATP13A2c.289-1G>C (n.289-1G>C)
c.308-1G>C (n.308-1G>C)
c.23-1G>C
c.266-1G>C
c.215-1G>C
c.-558-1G>C (n.-558-1G>C)
1g.17005073C>TCA338263979ATP13A2c.289-1G>A (n.289-1G>A)
c.308-1G>A (n.308-1G>A)
c.23-1G>A
c.266-1G>A
c.215-1G>A
c.-558-1G>A (n.-558-1G>A)
 dbSNP gnomAD v3 gnomAD v4
1g.17005074T>ACA338263980ATP13A2c.289-2A>T (n.289-2A>T)
c.308-2A>T (n.308-2A>T)
c.23-2A>T
c.266-2A>T
c.215-2A>T
c.-558-2A>T (n.-558-2A>T)
1g.17005074T>CCA338263981ATP13A2c.289-2A>G (n.289-2A>G)
c.308-2A>G (n.308-2A>G)
c.23-2A>G
c.266-2A>G
c.215-2A>G
c.-558-2A>G (n.-558-2A>G)
1g.17005074T>GCA338263983ATP13A2c.289-2A>C (n.289-2A>C)
c.308-2A>C (n.308-2A>C)
c.23-2A>C
c.266-2A>C
c.215-2A>C
c.-558-2A>C (n.-558-2A>C)
1g.17005074_17005075delinsTGCA1156072899ATP13A2c.289-3_289-2delinsCA (n.289-3_289-2delinsCA)
c.308-3_308-2delinsCA (n.308-3_308-2delinsCA)
c.23-3_23-2delinsCA
c.266-3_266-2delinsCA
c.215-3_215-2delinsCA
c.-558-3_-558-2delinsCA (n.-558-3_-558-2delinsCA)
1g.17005074_17005075insCTTTGTCTCTTATTTCGATAACGAGTGTTTCGGCGTGGGCCACA2643675547ATP13A2c.289-3_289-2insTGGCCCACGCCGAAACACTCGTTATCGAAATAAGAGACAAAG (n.289-3_289-2insTGGCCCACGCCGAAACACTCGTTATCGAAATAAGAGACAAAG)
c.308-3_308-2insTGGCCCACGCCGAAACACTCGTTATCGAAATAAGAGACAAAG (n.308-3_308-2insTGGCCCACGCCGAAACACTCGTTATCGAAATAAGAGACAAAG)
c.23-3_23-2insTGGCCCACGCCGAAACACTCGTTATCGAAATAAGAGACAAAG
c.266-3_266-2insTGGCCCACGCCGAAACACTCGTTATCGAAATAAGAGACAAAG
c.215-3_215-2insTGGCCCACGCCGAAACACTCGTTATCGAAATAAGAGACAAAG
c.-558-3_-558-2insTGGCCCACGCCGAAACACTCGTTATCGAAATAAGAGACAAAG (n.-558-3_-558-2insTGGCCCACGCCGAAACACTCGTTATCGAAATAAGAGACAAAG)
 gnomAD v4
1g.17005075G>ACA416074671ATP13A2c.289-3C>T (n.289-3C>T)
c.308-3C>T (n.308-3C>T)
c.23-3C>T
c.266-3C>T
c.215-3C>T
c.-558-3C>T (n.-558-3C>T)
 ClinVar dbSNP gnomAD v4
1g.17005075G>CCA416074673ATP13A2c.289-3C>G (n.289-3C>G)
c.308-3C>G (n.308-3C>G)
c.23-3C>G
c.266-3C>G
c.215-3C>G
c.-558-3C>G (n.-558-3C>G)
1g.17005075G>TCA416074674ATP13A2c.289-3C>A (n.289-3C>A)
c.308-3C>A (n.308-3C>A)
c.23-3C>A
c.266-3C>A
c.215-3C>A
c.-558-3C>A (n.-558-3C>A)
1g.17005075_17005076delinsGGCA1148885469ATP13A2c.289-4_289-3delinsCC (n.289-4_289-3delinsCC)
c.308-4_308-3delinsCC (n.308-4_308-3delinsCC)
c.23-4_23-3delinsCC
c.266-4_266-3delinsCC
c.215-4_215-3delinsCC
c.-558-4_-558-3delinsCC (n.-558-4_-558-3delinsCC)
1g.17005076delCA637692ATP13A2c.289-3del (n.289-3del)
c.308-3del (n.308-3del)
c.23-3del
c.266-3del
c.215-3del
c.-558-3del (n.-558-3del)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.17005076G>ACA416074678ATP13A2c.289-4C>T (n.289-4C>T)
c.308-4C>T (n.308-4C>T)
c.23-4C>T
c.266-4C>T
c.215-4C>T
c.-558-4C>T (n.-558-4C>T)
1g.17005076G>CCA416074680ATP13A2c.289-4C>G (n.289-4C>G)
c.308-4C>G (n.308-4C>G)
c.23-4C>G
c.266-4C>G
c.215-4C>G
c.-558-4C>G (n.-558-4C>G)
1g.17005076G=CA1149035736ATP13A2c.289-4C= (n.289-4C=)
c.308-4C= (n.308-4C=)
c.23-4C=
c.266-4C=
c.215-4C=
c.-558-4C= (n.-558-4C=)
1g.17005076G>TCA637693ATP13A2c.289-4C>A (n.289-4C>A)
c.308-4C>A (n.308-4C>A)
c.23-4C>A
c.266-4C>A
c.215-4C>A
c.-558-4C>A (n.-558-4C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.17005077A>CCA416074691ATP13A2c.289-5T>G (n.289-5T>G)
c.308-5T>G (n.308-5T>G)
c.23-5T>G
c.266-5T>G
c.215-5T>G
c.-558-5T>G (n.-558-5T>G)
1g.17005077A>GCA416074683ATP13A2c.289-5T>C (n.289-5T>C)
c.308-5T>C (n.308-5T>C)
c.23-5T>C
c.266-5T>C
c.215-5T>C
c.-558-5T>C (n.-558-5T>C)
1g.17005077A>TCA416074686ATP13A2c.289-5T>A (n.289-5T>A)
c.308-5T>A (n.308-5T>A)
c.23-5T>A
c.266-5T>A
c.215-5T>A
c.-558-5T>A (n.-558-5T>A)
1g.17005078A>CCA416074694ATP13A2c.289-6T>G (n.289-6T>G)
c.308-6T>G (n.308-6T>G)
c.23-6T>G
c.266-6T>G
c.215-6T>G
c.-558-6T>G (n.-558-6T>G)
1g.17005078A>GCA416074696ATP13A2c.289-6T>C (n.289-6T>C)
c.308-6T>C (n.308-6T>C)
c.23-6T>C
c.266-6T>C
c.215-6T>C
c.-558-6T>C (n.-558-6T>C)
1g.17005078A>TCA416074699ATP13A2c.289-6T>A (n.289-6T>A)
c.308-6T>A (n.308-6T>A)
c.23-6T>A
c.266-6T>A
c.215-6T>A
c.-558-6T>A (n.-558-6T>A)
1g.17005079C>ACA416074701ATP13A2c.289-7G>T (n.289-7G>T)
c.308-7G>T (n.308-7G>T)
c.23-7G>T
c.266-7G>T
c.215-7G>T
c.-558-7G>T (n.-558-7G>T)
1g.17005079C>GCA416074702ATP13A2c.289-7G>C (n.289-7G>C)
c.308-7G>C (n.308-7G>C)
c.23-7G>C
c.266-7G>C
c.215-7G>C
c.-558-7G>C (n.-558-7G>C)
1g.17005079C>TCA416074705ATP13A2c.289-7G>A (n.289-7G>A)
c.308-7G>A (n.308-7G>A)
c.23-7G>A
c.266-7G>A
c.215-7G>A
c.-558-7G>A (n.-558-7G>A)
1g.17005080A>CCA416074708ATP13A2c.289-8T>G (n.289-8T>G)
c.308-8T>G (n.308-8T>G)
c.23-8T>G
c.266-8T>G
c.215-8T>G
c.-558-8T>G (n.-558-8T>G)
1g.17005080A>GCA416074712ATP13A2c.289-8T>C (n.289-8T>C)
c.308-8T>C (n.308-8T>C)
c.23-8T>C
c.266-8T>C
c.215-8T>C
c.-558-8T>C (n.-558-8T>C)
1g.17005080A>TCA416074713ATP13A2c.289-8T>A (n.289-8T>A)
c.308-8T>A (n.308-8T>A)
c.23-8T>A
c.266-8T>A
c.215-8T>A
c.-558-8T>A (n.-558-8T>A)
1g.17005081C>ACA416074715ATP13A2c.289-9G>T (n.289-9G>T)
c.308-9G>T (n.308-9G>T)
c.23-9G>T
c.266-9G>T
c.215-9G>T
c.-558-9G>T (n.-558-9G>T)
1g.17005081C=CA1156072908ATP13A2c.289-9G= (n.289-9G=)
c.308-9G= (n.308-9G=)
c.23-9G=
c.266-9G=
c.215-9G=
c.-558-9G= (n.-558-9G=)
1g.17005081C>GCA416074725ATP13A2c.289-9G>C (n.289-9G>C)
c.308-9G>C (n.308-9G>C)
c.23-9G>C
c.266-9G>C
c.215-9G>C
c.-558-9G>C (n.-558-9G>C)
1g.17005081C>TCA416074722ATP13A2c.289-9G>A (n.289-9G>A)
c.308-9G>A (n.308-9G>A)
c.23-9G>A
c.266-9G>A
c.215-9G>A
c.-558-9G>A (n.-558-9G>A)
 dbSNP gnomAD v2 gnomAD v4
1g.17005082A>CCA416074728ATP13A2c.289-10T>G (n.289-10T>G)
c.308-10T>G (n.308-10T>G)
c.23-10T>G
c.266-10T>G
c.215-10T>G
c.-558-10T>G (n.-558-10T>G)
1g.17005082A>GCA416074730ATP13A2c.289-10T>C (n.289-10T>C)
c.308-10T>C (n.308-10T>C)
c.23-10T>C
c.266-10T>C
c.215-10T>C
c.-558-10T>C (n.-558-10T>C)
1g.17005082A>TCA416074733ATP13A2c.289-10T>A (n.289-10T>A)
c.308-10T>A (n.308-10T>A)
c.23-10T>A
c.266-10T>A
c.215-10T>A
c.-558-10T>A (n.-558-10T>A)
1g.17005083G>ACA416074735ATP13A2c.289-11C>T (n.289-11C>T)
c.308-11C>T (n.308-11C>T)
c.23-11C>T
c.266-11C>T
c.215-11C>T
c.-558-11C>T (n.-558-11C>T)
1g.17005083G>CCA416074737ATP13A2c.289-11C>G (n.289-11C>G)
c.308-11C>G (n.308-11C>G)
c.23-11C>G
c.266-11C>G
c.215-11C>G
c.-558-11C>G (n.-558-11C>G)
1g.17005083G>TCA416074739ATP13A2c.289-11C>A (n.289-11C>A)
c.308-11C>A (n.308-11C>A)
c.23-11C>A
c.266-11C>A
c.215-11C>A
c.-558-11C>A (n.-558-11C>A)
1g.17005084A>CCA416074742ATP13A2c.289-12T>G (n.289-12T>G)
c.308-12T>G (n.308-12T>G)
c.23-12T>G
c.266-12T>G
c.215-12T>G
c.-558-12T>G (n.-558-12T>G)
1g.17005084A>GCA416074744ATP13A2c.289-12T>C (n.289-12T>C)
c.308-12T>C (n.308-12T>C)
c.23-12T>C
c.266-12T>C
c.215-12T>C
c.-558-12T>C (n.-558-12T>C)
 ClinVar gnomAD v4
1g.17005084A>TCA416074745ATP13A2c.289-12T>A (n.289-12T>A)
c.308-12T>A (n.308-12T>A)
c.23-12T>A
c.266-12T>A
c.215-12T>A
c.-558-12T>A (n.-558-12T>A)
1g.17005084_17005086delinsAGGCA1156072911ATP13A2c.289-14_289-12delinsCCT (n.289-14_289-12delinsCCT)
c.308-14_308-12delinsCCT (n.308-14_308-12delinsCCT)
c.23-14_23-12delinsCCT
c.266-14_266-12delinsCCT
c.215-14_215-12delinsCCT
c.-558-14_-558-12delinsCCT (n.-558-14_-558-12delinsCCT)
1g.17005085G>ACA637694ATP13A2c.289-13C>T (n.289-13C>T)
c.308-13C>T (n.308-13C>T)
c.23-13C>T
c.266-13C>T
c.215-13C>T
c.-558-13C>T (n.-558-13C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17005085G>CCA416074746ATP13A2c.289-13C>G (n.289-13C>G)
c.308-13C>G (n.308-13C>G)
c.23-13C>G
c.266-13C>G
c.215-13C>G
c.-558-13C>G (n.-558-13C>G)
1g.17005085G=CA1156072913ATP13A2c.289-13C= (n.289-13C=)
c.308-13C= (n.308-13C=)
c.23-13C=
c.266-13C=
c.215-13C=
c.-558-13C= (n.-558-13C=)
1g.17005085G>TCA416074747ATP13A2c.289-13C>A (n.289-13C>A)
c.308-13C>A (n.308-13C>A)
c.23-13C>A
c.266-13C>A
c.215-13C>A
c.-558-13C>A (n.-558-13C>A)
1g.17005085_17005086delCA521449947ATP13A2c.289-14_289-13del (n.289-14_289-13del)
c.308-14_308-13del (n.308-14_308-13del)
c.23-14_23-13del
c.266-14_266-13del
c.215-14_215-13del
c.-558-14_-558-13del (n.-558-14_-558-13del)
 dbSNP gnomAD v2
1g.17005086G>ACA416074753ATP13A2c.289-14C>T (n.289-14C>T)
c.308-14C>T (n.308-14C>T)
c.23-14C>T
c.266-14C>T
c.215-14C>T
c.-558-14C>T (n.-558-14C>T)
 gnomAD v4
1g.17005086G>CCA416074755ATP13A2c.289-14C>G (n.289-14C>G)
c.308-14C>G (n.308-14C>G)
c.23-14C>G
c.266-14C>G
c.215-14C>G
c.-558-14C>G (n.-558-14C>G)
1g.17005086G=CA1156072916ATP13A2c.289-14C= (n.289-14C=)
c.308-14C= (n.308-14C=)
c.23-14C=
c.266-14C=
c.215-14C=
c.-558-14C= (n.-558-14C=)
1g.17005086G>TCA416074758ATP13A2c.289-14C>A (n.289-14C>A)
c.308-14C>A (n.308-14C>A)
c.23-14C>A
c.266-14C>A
c.215-14C>A
c.-558-14C>A (n.-558-14C>A)
 dbSNP gnomAD v3 gnomAD v4
1g.17005087T>ACA416074763ATP13A2c.289-15A>T (n.289-15A>T)
c.308-15A>T (n.308-15A>T)
c.23-15A>T
c.266-15A>T
c.215-15A>T
c.-558-15A>T (n.-558-15A>T)
1g.17005087T>CCA416074770ATP13A2c.289-15A>G (n.289-15A>G)
c.308-15A>G (n.308-15A>G)
c.23-15A>G
c.266-15A>G
c.215-15A>G
c.-558-15A>G (n.-558-15A>G)
1g.17005087T>GCA416074772ATP13A2c.289-15A>C (n.289-15A>C)
c.308-15A>C (n.308-15A>C)
c.23-15A>C
c.266-15A>C
c.215-15A>C
c.-558-15A>C (n.-558-15A>C)
1g.17005088_17005089dupCA637695ATP13A2c.289-16_289-15dup (n.289-16_289-15dup)
c.308-16_308-15dup (n.308-16_308-15dup)
c.23-16_23-15dup
c.266-16_266-15dup
c.215-16_215-15dup
c.-558-16_-558-15dup (n.-558-16_-558-15dup)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.17005088A>CCA416074774ATP13A2c.289-16T>G (n.289-16T>G)
c.308-16T>G (n.308-16T>G)
c.23-16T>G
c.266-16T>G
c.215-16T>G
c.-558-16T>G (n.-558-16T>G)
1g.17005088A>GCA416074779ATP13A2c.289-16T>C (n.289-16T>C)
c.308-16T>C (n.308-16T>C)
c.23-16T>C
c.266-16T>C
c.215-16T>C
c.-558-16T>C (n.-558-16T>C)
1g.17005088A>TCA416074775ATP13A2c.289-16T>A (n.289-16T>A)
c.308-16T>A (n.308-16T>A)
c.23-16T>A
c.266-16T>A
c.215-16T>A
c.-558-16T>A (n.-558-16T>A)
1g.17005089T>ACA416074784ATP13A2c.289-17A>T (n.289-17A>T)
c.308-17A>T (n.308-17A>T)
c.23-17A>T
c.266-17A>T
c.215-17A>T
c.-558-17A>T (n.-558-17A>T)
1g.17005089T>CCA637696ATP13A2c.289-17A>G (n.289-17A>G)
c.308-17A>G (n.308-17A>G)
c.23-17A>G
c.266-17A>G
c.215-17A>G
c.-558-17A>G (n.-558-17A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17005089T>GCA416074786ATP13A2c.289-17A>C (n.289-17A>C)
c.308-17A>C (n.308-17A>C)
c.23-17A>C
c.266-17A>C
c.215-17A>C
c.-558-17A>C (n.-558-17A>C)
1g.17005089T=CA1144643870ATP13A2c.289-17A= (n.289-17A=)
c.308-17A= (n.308-17A=)
c.23-17A=
c.266-17A=
c.215-17A=
c.-558-17A= (n.-558-17A=)
1g.17005090G>ACA416074787ATP13A2c.289-18C>T (n.289-18C>T)
c.308-18C>T (n.308-18C>T)
c.23-18C>T
c.266-18C>T
c.215-18C>T
c.-558-18C>T (n.-558-18C>T)
 gnomAD v4
1g.17005090G>CCA416074789ATP13A2c.289-18C>G (n.289-18C>G)
c.308-18C>G (n.308-18C>G)
c.23-18C>G
c.266-18C>G
c.215-18C>G
c.-558-18C>G (n.-558-18C>G)
1g.17005090G>TCA416074791ATP13A2c.289-18C>A (n.289-18C>A)
c.308-18C>A (n.308-18C>A)
c.23-18C>A
c.266-18C>A
c.215-18C>A
c.-558-18C>A (n.-558-18C>A)
1g.17005091G>ACA416074793ATP13A2c.289-19C>T (n.289-19C>T)
c.308-19C>T (n.308-19C>T)
c.23-19C>T
c.266-19C>T
c.215-19C>T
c.-558-19C>T (n.-558-19C>T)
 gnomAD v4
1g.17005091G>CCA416074794ATP13A2c.289-19C>G (n.289-19C>G)
c.308-19C>G (n.308-19C>G)
c.23-19C>G
c.266-19C>G
c.215-19C>G
c.-558-19C>G (n.-558-19C>G)
1g.17005091G>TCA416074797ATP13A2c.289-19C>A (n.289-19C>A)
c.308-19C>A (n.308-19C>A)
c.23-19C>A
c.266-19C>A
c.215-19C>A
c.-558-19C>A (n.-558-19C>A)
1g.17005093C=CA1156072918ATP13A2c.289-21G= (n.289-21G=)
c.308-21G= (n.308-21G=)
c.23-21G=
c.266-21G=
c.215-21G=
c.-558-21G= (n.-558-21G=)
1g.17005093C>TCA890973249ATP13A2c.289-21G>A (n.289-21G>A)
c.308-21G>A (n.308-21G>A)
c.23-21G>A
c.266-21G>A
c.215-21G>A
c.-558-21G>A (n.-558-21G>A)
 dbSNP
1g.17005094T>CCA2574234544ATP13A2c.289-22A>G (n.289-22A>G)
c.308-22A>G (n.308-22A>G)
c.23-22A>G
c.266-22A>G
c.215-22A>G
c.-558-22A>G (n.-558-22A>G)
1g.17005095C=CA1141220215ATP13A2c.289-23G= (n.289-23G=)
c.308-23G= (n.308-23G=)
c.23-23G=
c.266-23G=
c.215-23G=
c.-558-23G= (n.-558-23G=)
1g.17005095C>TCA637697ATP13A2c.289-23G>A (n.289-23G>A)
c.308-23G>A (n.308-23G>A)
c.23-23G>A
c.266-23G>A
c.215-23G>A
c.-558-23G>A (n.-558-23G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17005096A=CA1156072920ATP13A2c.289-24T= (n.289-24T=)
c.308-24T= (n.308-24T=)
c.23-24T=
c.266-24T=
c.215-24T=
c.-558-24T= (n.-558-24T=)
1g.17005096A>CCA2574234549ATP13A2c.289-24T>G (n.289-24T>G)
c.308-24T>G (n.308-24T>G)
c.23-24T>G
c.266-24T>G
c.215-24T>G
c.-558-24T>G (n.-558-24T>G)
 gnomAD v4
1g.17005096A>GCA2643675585ATP13A2c.289-24T>C (n.289-24T>C)
c.308-24T>C (n.308-24T>C)
c.23-24T>C
c.266-24T>C
c.215-24T>C
c.-558-24T>C (n.-558-24T>C)
 gnomAD v4
1g.17005096A>TCA999069471ATP13A2c.289-24T>A (n.289-24T>A)
c.308-24T>A (n.308-24T>A)
c.23-24T>A
c.266-24T>A
c.215-24T>A
c.-558-24T>A (n.-558-24T>A)
 dbSNP gnomAD v3 gnomAD v4
1g.17005097G>ACA890973252ATP13A2c.289-25C>T (n.289-25C>T)
c.308-25C>T (n.308-25C>T)
c.23-25C>T
c.266-25C>T
c.215-25C>T
c.-558-25C>T (n.-558-25C>T)
 dbSNP gnomAD v3 gnomAD v4
1g.17005097G=CA1156072922ATP13A2c.289-25C= (n.289-25C=)
c.308-25C= (n.308-25C=)
c.23-25C=
c.266-25C=
c.215-25C=
c.-558-25C= (n.-558-25C=)
1g.17005098T>ACA521449948ATP13A2c.289-26A>T (n.289-26A>T)
c.308-26A>T (n.308-26A>T)
c.23-26A>T
c.266-26A>T
c.215-26A>T
c.-558-26A>T (n.-558-26A>T)
 dbSNP gnomAD v2 gnomAD v4
1g.17005098T=CA1156072923ATP13A2c.289-26A= (n.289-26A=)
c.308-26A= (n.308-26A=)
c.23-26A=
c.266-26A=
c.215-26A=
c.-558-26A= (n.-558-26A=)
1g.17005099C=CA1156072926ATP13A2c.289-27G= (n.289-27G=)
c.308-27G= (n.308-27G=)
c.23-27G=
c.266-27G=
c.215-27G=
c.-558-27G= (n.-558-27G=)
1g.17005099C>TCA637698ATP13A2c.289-27G>A (n.289-27G>A)
c.308-27G>A (n.308-27G>A)
c.23-27G>A
c.266-27G>A
c.215-27G>A
c.-558-27G>A (n.-558-27G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.17005101C=CA1156072927ATP13A2c.289-29G= (n.289-29G=)
c.308-29G= (n.308-29G=)
c.23-29G=
c.266-29G=
c.215-29G=
c.-558-29G= (n.-558-29G=)
1g.17005101C>TCA521449949ATP13A2c.289-29G>A (n.289-29G>A)
c.308-29G>A (n.308-29G>A)
c.23-29G>A
c.266-29G>A
c.215-29G>A
c.-558-29G>A (n.-558-29G>A)
 dbSNP gnomAD v2 gnomAD v4
1g.17005103G>ACA637699ATP13A2c.289-31C>T (n.289-31C>T)
c.308-31C>T (n.308-31C>T)
c.23-31C>T
c.266-31C>T
c.215-31C>T
c.-558-31C>T (n.-558-31C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17005103G=CA1140610304ATP13A2c.289-31C= (n.289-31C=)
c.308-31C= (n.308-31C=)
c.23-31C=
c.266-31C=
c.215-31C=
c.-558-31C= (n.-558-31C=)
1g.17005103G>TCA18646662ATP13A2c.289-31C>A (n.289-31C>A)
c.308-31C>A (n.308-31C>A)
c.23-31C>A
c.266-31C>A
c.215-31C>A
c.-558-31C>A (n.-558-31C>A)
 dbSNP
1g.17005104A=CA1156072931ATP13A2c.289-32T= (n.289-32T=)
c.308-32T= (n.308-32T=)
c.23-32T=
c.266-32T=
c.215-32T=
c.-558-32T= (n.-558-32T=)
1g.17005104A>GCA2643675588ATP13A2c.289-32T>C (n.289-32T>C)
c.308-32T>C (n.308-32T>C)
c.23-32T>C
c.266-32T>C
c.215-32T>C
c.-558-32T>C (n.-558-32T>C)
 gnomAD v4
1g.17005104A>TCA890973263ATP13A2c.289-32T>A (n.289-32T>A)
c.308-32T>A (n.308-32T>A)
c.23-32T>A
c.266-32T>A
c.215-32T>A
c.-558-32T>A (n.-558-32T>A)
 dbSNP
1g.17005105A=CA1156072933ATP13A2c.289-33T= (n.289-33T=)
c.308-33T= (n.308-33T=)
c.23-33T=
c.266-33T=
c.215-33T=
c.-558-33T= (n.-558-33T=)
1g.17005105_17005106insCTCA999069473ATP13A2c.289-34_289-33insAG (n.289-34_289-33insAG)
c.308-34_308-33insAG (n.308-34_308-33insAG)
c.23-34_23-33insAG
c.266-34_266-33insAG
c.215-34_215-33insAG
c.-558-34_-558-33insAG (n.-558-34_-558-33insAG)
 dbSNP gnomAD v3 gnomAD v4
1g.17005106G>ACA999069480ATP13A2c.289-34C>T (n.289-34C>T)
c.308-34C>T (n.308-34C>T)
c.23-34C>T
c.266-34C>T
c.215-34C>T
c.-558-34C>T (n.-558-34C>T)
 dbSNP gnomAD v3 gnomAD v4
1g.17005106G=CA1156072935ATP13A2c.289-34C= (n.289-34C=)
c.308-34C= (n.308-34C=)
c.23-34C=
c.266-34C=
c.215-34C=
c.-558-34C= (n.-558-34C=)
1g.17005108G>ACA637700ATP13A2c.289-36C>T (n.289-36C>T)
c.308-36C>T (n.308-36C>T)
c.23-36C>T
c.266-36C>T
c.215-36C>T
c.-558-36C>T (n.-558-36C>T)
 dbSNP ExAC gnomAD v2
1g.17005108G=CA1156072937ATP13A2c.289-36C= (n.289-36C=)
c.308-36C= (n.308-36C=)
c.23-36C=
c.266-36C=
c.215-36C=
c.-558-36C= (n.-558-36C=)
1g.17005109T>ACA2574234556ATP13A2c.289-37A>T (n.289-37A>T)
c.308-37A>T (n.308-37A>T)
c.23-37A>T
c.266-37A>T
c.215-37A>T
c.-558-37A>T (n.-558-37A>T)
1g.17005109T>CCA18646668ATP13A2c.289-37A>G (n.289-37A>G)
c.308-37A>G (n.308-37A>G)
c.23-37A>G
c.266-37A>G
c.215-37A>G
c.-558-37A>G (n.-558-37A>G)
 dbSNP gnomAD v3 gnomAD v4
1g.17005109T=CA1144565013ATP13A2c.289-37A= (n.289-37A=)
c.308-37A= (n.308-37A=)
c.23-37A=
c.266-37A=
c.215-37A=
c.-558-37A= (n.-558-37A=)
1g.17005112C>GCA2643675589ATP13A2c.289-40G>C (n.289-40G>C)
c.308-40G>C (n.308-40G>C)
c.23-40G>C
c.266-40G>C
c.215-40G>C
c.-558-40G>C (n.-558-40G>C)
 gnomAD v4
1g.17005113C=CA1156072938ATP13A2c.289-41G= (n.289-41G=)
c.308-41G= (n.308-41G=)
c.23-41G=
c.266-41G=
c.215-41G=
c.-558-41G= (n.-558-41G=)
1g.17005113C>TCA999069483ATP13A2c.289-41G>A (n.289-41G>A)
c.308-41G>A (n.308-41G>A)
c.23-41G>A
c.266-41G>A
c.215-41G>A
c.-558-41G>A (n.-558-41G>A)
 dbSNP gnomAD v3 gnomAD v4
1g.17005114delCA2574234560ATP13A2c.289-42del (n.289-42del)
c.308-42del (n.308-42del)
c.23-42del
c.266-42del
c.215-42del
c.-558-42del (n.-558-42del)
1g.17005115C=CA1156072940ATP13A2c.289-43G= (n.289-43G=)
c.308-43G= (n.308-43G=)
c.23-43G=
c.266-43G=
c.215-43G=
c.-558-43G= (n.-558-43G=)
1g.17005115C>GCA637701ATP13A2c.289-43G>C (n.289-43G>C)
c.308-43G>C (n.308-43G>C)
c.23-43G>C
c.266-43G>C
c.215-43G>C
c.-558-43G>C (n.-558-43G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.17005117C>TCA2643675590ATP13A2c.289-45G>A (n.289-45G>A)
c.308-45G>A (n.308-45G>A)
c.23-45G>A
c.266-45G>A
c.215-45G>A
c.-558-45G>A (n.-558-45G>A)
 gnomAD v4
1g.17005118C=CA1156072941ATP13A2c.289-46G= (n.289-46G=)
c.308-46G= (n.308-46G=)
c.23-46G=
c.266-46G=
c.215-46G=
c.-558-46G= (n.-558-46G=)
1g.17005118C>GCA521449951ATP13A2c.289-46G>C (n.289-46G>C)
c.308-46G>C (n.308-46G>C)
c.23-46G>C
c.266-46G>C
c.215-46G>C
c.-558-46G>C (n.-558-46G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.17005121C>TCA2643675591ATP13A2c.289-49G>A (n.289-49G>A)
c.308-49G>A (n.308-49G>A)
c.23-49G>A
c.266-49G>A
c.215-49G>A
c.-558-49G>A (n.-558-49G>A)
 gnomAD v4
1g.17005122C=CA1156072943ATP13A2c.289-50G= (n.289-50G=)
c.308-50G= (n.308-50G=)
c.23-50G=
c.266-50G=
c.215-50G=
c.-558-50G= (n.-558-50G=)
1g.17005122C>TCA1156072945ATP13A2c.289-50G>A (n.289-50G>A)
c.308-50G>A (n.308-50G>A)
c.23-50G>A
c.266-50G>A
c.215-50G>A
c.-558-50G>A (n.-558-50G>A)
 dbSNP gnomAD v4

Number of alleles fetched