Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.17000107C>ACA338257124ATP13A2c.943G>T (p.Gly315Ter)
c.928G>T (p.Gly310Ter)
n.551G>T
n.82G>T
c.103G>T (p.Gly35Ter)
c.866G>T
c.82G>T (p.Gly28Ter)
c.940G>T (p.Gly314Ter)
c.916G>T (p.Gly306Ter)
c.925G>T (p.Gly309Ter)
c.901G>T (p.Gly301Ter)
c.913G>T (p.Gly305Ter)
1g.17000107C=CA1142368882ATP13A2c.943G= (p.Gly315=)
c.928G= (p.Gly310=)
n.551G=
n.82G=
c.103G= (p.Gly35=)
c.866G=
c.82G= (p.Gly28=)
c.940G= (p.Gly314=)
c.916G= (p.Gly306=)
c.925G= (p.Gly309=)
c.901G= (p.Gly301=)
c.913G= (p.Gly305=)
1g.17000107C>GCA338257126ATP13A2c.943G>C (p.Gly315Arg)
c.928G>C (p.Gly310Arg)
n.551G>C
n.82G>C
c.103G>C (p.Gly35Arg)
c.866G>C
c.82G>C (p.Gly28Arg)
c.940G>C (p.Gly314Arg)
c.916G>C (p.Gly306Arg)
c.925G>C (p.Gly309Arg)
c.901G>C (p.Gly301Arg)
c.913G>C (p.Gly305Arg)
1g.17000107C>TCA276126ATP13A2c.943G>A (p.Gly315Arg)
c.928G>A (p.Gly310Arg)
n.551G>A
n.82G>A
c.103G>A (p.Gly35Arg)
c.866G>A
c.82G>A (p.Gly28Arg)
c.940G>A (p.Gly314Arg)
c.916G>A (p.Gly306Arg)
c.925G>A (p.Gly309Arg)
c.901G>A (p.Gly301Arg)
c.913G>A (p.Gly305Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.17000108G>ACA18641729ATP13A2c.942C>T (p.Pro314=)
c.927C>T (p.Pro309=)
n.550C>T
n.81C>T
c.102C>T (p.Pro34=)
c.865C>T
c.81C>T (p.Pro27=)
c.939C>T (p.Pro313=)
c.915C>T (p.Pro305=)
c.924C>T (p.Pro308=)
c.900C>T (p.Pro300=)
c.912C>T (p.Pro304=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.17000108G>CCA637413ATP13A2c.942C>G (p.Pro314=)
c.927C>G (p.Pro309=)
n.550C>G
n.81C>G
c.102C>G (p.Pro34=)
c.865C>G
c.81C>G (p.Pro27=)
c.939C>G (p.Pro313=)
c.915C>G (p.Pro305=)
c.924C>G (p.Pro308=)
c.900C>G (p.Pro300=)
c.912C>G (p.Pro304=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17000108G=CA1146087016ATP13A2c.942C= (p.Pro314=)
c.927C= (p.Pro309=)
n.550C=
n.81C=
c.102C= (p.Pro34=)
c.865C=
c.81C= (p.Pro27=)
c.939C= (p.Pro313=)
c.915C= (p.Pro305=)
c.924C= (p.Pro308=)
c.900C= (p.Pro300=)
c.912C= (p.Pro304=)
1g.17000108G>TCA416094746ATP13A2c.942C>A (p.Pro314=)
c.927C>A (p.Pro309=)
n.550C>A
n.81C>A
c.102C>A (p.Pro34=)
c.865C>A
c.81C>A (p.Pro27=)
c.939C>A (p.Pro313=)
c.915C>A (p.Pro305=)
c.924C>A (p.Pro308=)
c.900C>A (p.Pro300=)
c.912C>A (p.Pro304=)
1g.17000109G>ACA338257160ATP13A2c.941C>T (p.Pro314Leu)
c.926C>T (p.Pro309Leu)
n.549C>T
n.80C>T
c.101C>T (p.Pro34Leu)
c.864C>T
c.80C>T (p.Pro27Leu)
c.938C>T (p.Pro313Leu)
c.914C>T (p.Pro305Leu)
c.923C>T (p.Pro308Leu)
c.899C>T (p.Pro300Leu)
c.911C>T (p.Pro304Leu)
1g.17000109G>CCA338257161ATP13A2c.941C>G (p.Pro314Arg)
c.926C>G (p.Pro309Arg)
n.549C>G
n.80C>G
c.101C>G (p.Pro34Arg)
c.864C>G
c.80C>G (p.Pro27Arg)
c.938C>G (p.Pro313Arg)
c.914C>G (p.Pro305Arg)
c.923C>G (p.Pro308Arg)
c.899C>G (p.Pro300Arg)
c.911C>G (p.Pro304Arg)
1g.17000109G>TCA338257166ATP13A2c.941C>A (p.Pro314His)
c.926C>A (p.Pro309His)
n.549C>A
n.80C>A
c.101C>A (p.Pro34His)
c.864C>A
c.80C>A (p.Pro27His)
c.938C>A (p.Pro313His)
c.914C>A (p.Pro305His)
c.923C>A (p.Pro308His)
c.899C>A (p.Pro300His)
c.911C>A (p.Pro304His)
 gnomAD v4
1g.17000110G>ACA338257179ATP13A2c.940C>T (p.Pro314Ser)
c.925C>T (p.Pro309Ser)
n.548C>T
n.79C>T
c.100C>T (p.Pro34Ser)
c.863C>T
c.79C>T (p.Pro27Ser)
c.937C>T (p.Pro313Ser)
c.913C>T (p.Pro305Ser)
c.922C>T (p.Pro308Ser)
c.898C>T (p.Pro300Ser)
c.910C>T (p.Pro304Ser)
 ClinVar dbSNP gnomAD v4
1g.17000110G>CCA637414ATP13A2c.940C>G (p.Pro314Ala)
c.925C>G (p.Pro309Ala)
n.548C>G
n.79C>G
c.100C>G (p.Pro34Ala)
c.863C>G
c.79C>G (p.Pro27Ala)
c.937C>G (p.Pro313Ala)
c.913C>G (p.Pro305Ala)
c.922C>G (p.Pro308Ala)
c.898C>G (p.Pro300Ala)
c.910C>G (p.Pro304Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.17000110G=CA1156038494ATP13A2c.940C= (p.Pro314=)
c.925C= (p.Pro309=)
n.548C=
n.79C=
c.100C= (p.Pro34=)
c.863C=
c.79C= (p.Pro27=)
c.937C= (p.Pro313=)
c.913C= (p.Pro305=)
c.922C= (p.Pro308=)
c.898C= (p.Pro300=)
c.910C= (p.Pro304=)
1g.17000110G>TCA338257174ATP13A2c.940C>A (p.Pro314Thr)
c.925C>A (p.Pro309Thr)
n.548C>A
n.79C>A
c.100C>A (p.Pro34Thr)
c.863C>A
c.79C>A (p.Pro27Thr)
c.937C>A (p.Pro313Thr)
c.913C>A (p.Pro305Thr)
c.922C>A (p.Pro308Thr)
c.898C>A (p.Pro300Thr)
c.910C>A (p.Pro304Thr)
1g.17000111C>ACA637415ATP13A2c.939G>T (p.Val313=)
c.924G>T (p.Val308=)
n.547G>T
n.78G>T
c.99G>T (p.Val33=)
c.862G>T
c.78G>T (p.Val26=)
c.936G>T (p.Val312=)
c.912G>T (p.Val304=)
c.921G>T (p.Val307=)
c.897G>T (p.Val299=)
c.909G>T (p.Val303=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.17000111C=CA1156038497ATP13A2c.939G= (p.Val313=)
c.924G= (p.Val308=)
n.547G=
n.78G=
c.99G= (p.Val33=)
c.862G=
c.78G= (p.Val26=)
c.936G= (p.Val312=)
c.912G= (p.Val304=)
c.921G= (p.Val307=)
c.897G= (p.Val299=)
c.909G= (p.Val303=)
1g.17000111C>GCA416094751ATP13A2c.939G>C (p.Val313=)
c.924G>C (p.Val308=)
n.547G>C
n.78G>C
c.99G>C (p.Val33=)
c.862G>C
c.78G>C (p.Val26=)
c.936G>C (p.Val312=)
c.912G>C (p.Val304=)
c.921G>C (p.Val307=)
c.897G>C (p.Val299=)
c.909G>C (p.Val303=)
1g.17000111C>TCA416094752ATP13A2c.939G>A (p.Val313=)
c.924G>A (p.Val308=)
n.547G>A
n.78G>A
c.99G>A (p.Val33=)
c.862G>A
c.78G>A (p.Val26=)
c.936G>A (p.Val312=)
c.912G>A (p.Val304=)
c.921G>A (p.Val307=)
c.897G>A (p.Val299=)
c.909G>A (p.Val303=)
 dbSNP gnomAD v2 gnomAD v4
1g.17000112A>CCA338257193ATP13A2c.938T>G (p.Val313Gly)
c.923T>G (p.Val308Gly)
n.546T>G
n.77T>G
c.98T>G (p.Val33Gly)
c.861T>G
c.77T>G (p.Val26Gly)
c.935T>G (p.Val312Gly)
c.911T>G (p.Val304Gly)
c.920T>G (p.Val307Gly)
c.896T>G (p.Val299Gly)
c.908T>G (p.Val303Gly)
 gnomAD v4
1g.17000112A>GCA338257197ATP13A2c.938T>C (p.Val313Ala)
c.923T>C (p.Val308Ala)
n.546T>C
n.77T>C
c.98T>C (p.Val33Ala)
c.861T>C
c.77T>C (p.Val26Ala)
c.935T>C (p.Val312Ala)
c.911T>C (p.Val304Ala)
c.920T>C (p.Val307Ala)
c.896T>C (p.Val299Ala)
c.908T>C (p.Val303Ala)
1g.17000112A>TCA338257200ATP13A2c.938T>A (p.Val313Glu)
c.923T>A (p.Val308Glu)
n.546T>A
n.77T>A
c.98T>A (p.Val33Glu)
c.861T>A
c.77T>A (p.Val26Glu)
c.935T>A (p.Val312Glu)
c.911T>A (p.Val304Glu)
c.920T>A (p.Val307Glu)
c.896T>A (p.Val299Glu)
c.908T>A (p.Val303Glu)
1g.17000113C>ACA338257201ATP13A2c.937G>T (p.Val313Leu)
c.922G>T (p.Val308Leu)
n.545G>T
n.76G>T
c.97G>T (p.Val33Leu)
c.860G>T
c.76G>T (p.Val26Leu)
c.934G>T (p.Val312Leu)
c.910G>T (p.Val304Leu)
c.919G>T (p.Val307Leu)
c.895G>T (p.Val299Leu)
c.907G>T (p.Val303Leu)
1g.17000113C=CA1156038505ATP13A2c.937G= (p.Val313=)
c.922G= (p.Val308=)
n.545G=
n.76G=
c.97G= (p.Val33=)
c.860G=
c.76G= (p.Val26=)
c.934G= (p.Val312=)
c.910G= (p.Val304=)
c.919G= (p.Val307=)
c.895G= (p.Val299=)
c.907G= (p.Val303=)
1g.17000113C>GCA338257202ATP13A2c.937G>C (p.Val313Leu)
c.922G>C (p.Val308Leu)
n.545G>C
n.76G>C
c.97G>C (p.Val33Leu)
c.860G>C
c.76G>C (p.Val26Leu)
c.934G>C (p.Val312Leu)
c.910G>C (p.Val304Leu)
c.919G>C (p.Val307Leu)
c.895G>C (p.Val299Leu)
c.907G>C (p.Val303Leu)
 dbSNP gnomAD v3 gnomAD v4
1g.17000113C>TCA338257203ATP13A2c.937G>A (p.Val313Met)
c.922G>A (p.Val308Met)
n.545G>A
n.76G>A
c.97G>A (p.Val33Met)
c.860G>A
c.76G>A (p.Val26Met)
c.934G>A (p.Val312Met)
c.910G>A (p.Val304Met)
c.919G>A (p.Val307Met)
c.895G>A (p.Val299Met)
c.907G>A (p.Val303Met)
 dbSNP
1g.17000114T>ACA416094757ATP13A2c.936A>T (p.Leu312=)
c.921A>T (p.Leu307=)
n.544A>T
n.75A>T
c.96A>T (p.Leu32=)
c.859A>T
c.75A>T (p.Leu25=)
c.933A>T (p.Leu311=)
c.909A>T (p.Leu303=)
c.918A>T (p.Leu306=)
c.894A>T (p.Leu298=)
c.906A>T (p.Leu302=)
1g.17000114T>CCA416094758ATP13A2c.936A>G (p.Leu312=)
c.921A>G (p.Leu307=)
n.544A>G
n.75A>G
c.96A>G (p.Leu32=)
c.859A>G
c.75A>G (p.Leu25=)
c.933A>G (p.Leu311=)
c.909A>G (p.Leu303=)
c.918A>G (p.Leu306=)
c.894A>G (p.Leu298=)
c.906A>G (p.Leu302=)
1g.17000114T>GCA416094759ATP13A2c.936A>C (p.Leu312=)
c.921A>C (p.Leu307=)
n.544A>C
n.75A>C
c.96A>C (p.Leu32=)
c.859A>C
c.75A>C (p.Leu25=)
c.933A>C (p.Leu311=)
c.909A>C (p.Leu303=)
c.918A>C (p.Leu306=)
c.894A>C (p.Leu298=)
c.906A>C (p.Leu302=)
1g.17000115A>CCA338257204ATP13A2c.935T>G (p.Leu312Arg)
c.920T>G (p.Leu307Arg)
n.543T>G
n.74T>G
c.95T>G (p.Leu32Arg)
c.858T>G
c.74T>G (p.Leu25Arg)
c.932T>G (p.Leu311Arg)
c.908T>G (p.Leu303Arg)
c.917T>G (p.Leu306Arg)
c.893T>G (p.Leu298Arg)
c.905T>G (p.Leu302Arg)
 gnomAD v4
1g.17000115A>GCA338257208ATP13A2c.935T>C (p.Leu312Pro)
c.920T>C (p.Leu307Pro)
n.543T>C
n.74T>C
c.95T>C (p.Leu32Pro)
c.858T>C
c.74T>C (p.Leu25Pro)
c.932T>C (p.Leu311Pro)
c.908T>C (p.Leu303Pro)
c.917T>C (p.Leu306Pro)
c.893T>C (p.Leu298Pro)
c.905T>C (p.Leu302Pro)
 gnomAD v4
1g.17000115A>TCA338257207ATP13A2c.935T>A (p.Leu312Gln)
c.920T>A (p.Leu307Gln)
n.543T>A
n.74T>A
c.95T>A (p.Leu32Gln)
c.858T>A
c.74T>A (p.Leu25Gln)
c.932T>A (p.Leu311Gln)
c.908T>A (p.Leu303Gln)
c.917T>A (p.Leu306Gln)
c.893T>A (p.Leu298Gln)
c.905T>A (p.Leu302Gln)
1g.17000117_17000126delCA2643675460ATP13A2c.926_935del (p.Ser309Ter)
c.911_920del (p.Ser304Ter)
n.534_543del
n.65_74del
c.86_95del (p.Ser29Ter)
c.849_858del
c.65_74del (p.Ser22Ter)
c.923_932del (p.Ser308Ter)
c.899_908del (p.Ser300Ter)
c.908_917del (p.Ser303Ter)
c.884_893del (p.Ser295Ter)
c.896_905del (p.Ser299Ter)
 gnomAD v4
1g.17000116G>ACA416094764ATP13A2c.934C>T (p.Leu312=)
c.919C>T (p.Leu307=)
n.542C>T
n.73C>T
c.94C>T (p.Leu32=)
c.857C>T
c.73C>T (p.Leu25=)
c.931C>T (p.Leu311=)
c.907C>T (p.Leu303=)
c.916C>T (p.Leu306=)
c.892C>T (p.Leu298=)
c.904C>T (p.Leu302=)
 ClinVar
1g.17000116G>CCA338257211ATP13A2c.934C>G (p.Leu312Val)
c.919C>G (p.Leu307Val)
n.542C>G
n.73C>G
c.94C>G (p.Leu32Val)
c.857C>G
c.73C>G (p.Leu25Val)
c.931C>G (p.Leu311Val)
c.907C>G (p.Leu303Val)
c.916C>G (p.Leu306Val)
c.892C>G (p.Leu298Val)
c.904C>G (p.Leu302Val)
 ClinVar gnomAD v4
1g.17000116G>TCA338257218ATP13A2c.934C>A (p.Leu312Ile)
c.919C>A (p.Leu307Ile)
n.542C>A
n.73C>A
c.94C>A (p.Leu32Ile)
c.857C>A
c.73C>A (p.Leu25Ile)
c.931C>A (p.Leu311Ile)
c.907C>A (p.Leu303Ile)
c.916C>A (p.Leu306Ile)
c.892C>A (p.Leu298Ile)
c.904C>A (p.Leu302Ile)
1g.17000117C>ACA338257220ATP13A2c.933G>T (p.Glu311Asp)
c.918G>T (p.Glu306Asp)
n.541G>T
n.72G>T
c.93G>T (p.Glu31Asp)
c.856G>T
c.72G>T (p.Glu24Asp)
c.930G>T (p.Glu310Asp)
c.906G>T (p.Glu302Asp)
c.915G>T (p.Glu305Asp)
c.891G>T (p.Glu297Asp)
c.903G>T (p.Glu301Asp)
1g.17000117C=CA1156038513ATP13A2c.933G= (p.Glu311=)
c.918G= (p.Glu306=)
n.541G=
n.72G=
c.93G= (p.Glu31=)
c.856G=
c.72G= (p.Glu24=)
c.930G= (p.Glu310=)
c.906G= (p.Glu302=)
c.915G= (p.Glu305=)
c.891G= (p.Glu297=)
c.903G= (p.Glu301=)
1g.17000117C>GCA637416ATP13A2c.933G>C (p.Glu311Asp)
c.918G>C (p.Glu306Asp)
n.541G>C
n.72G>C
c.93G>C (p.Glu31Asp)
c.856G>C
c.72G>C (p.Glu24Asp)
c.930G>C (p.Glu310Asp)
c.906G>C (p.Glu302Asp)
c.915G>C (p.Glu305Asp)
c.891G>C (p.Glu297Asp)
c.903G>C (p.Glu301Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17000117C>TCA416094766ATP13A2c.933G>A (p.Glu311=)
c.918G>A (p.Glu306=)
n.541G>A
n.72G>A
c.93G>A (p.Glu31=)
c.856G>A
c.72G>A (p.Glu24=)
c.930G>A (p.Glu310=)
c.906G>A (p.Glu302=)
c.915G>A (p.Glu305=)
c.891G>A (p.Glu297=)
c.903G>A (p.Glu301=)
1g.17000118T>ACA338257227ATP13A2c.932A>T (p.Glu311Val)
c.917A>T (p.Glu306Val)
n.540A>T
n.71A>T
c.92A>T (p.Glu31Val)
c.855A>T
c.71A>T (p.Glu24Val)
c.929A>T (p.Glu310Val)
c.905A>T (p.Glu302Val)
c.914A>T (p.Glu305Val)
c.890A>T (p.Glu297Val)
c.902A>T (p.Glu301Val)
1g.17000118T>CCA338257231ATP13A2c.932A>G (p.Glu311Gly)
c.917A>G (p.Glu306Gly)
n.540A>G
n.71A>G
c.92A>G (p.Glu31Gly)
c.855A>G
c.71A>G (p.Glu24Gly)
c.929A>G (p.Glu310Gly)
c.905A>G (p.Glu302Gly)
c.914A>G (p.Glu305Gly)
c.890A>G (p.Glu297Gly)
c.902A>G (p.Glu301Gly)
1g.17000118T>GCA338257230ATP13A2c.932A>C (p.Glu311Ala)
c.917A>C (p.Glu306Ala)
n.540A>C
n.71A>C
c.92A>C (p.Glu31Ala)
c.855A>C
c.71A>C (p.Glu24Ala)
c.929A>C (p.Glu310Ala)
c.905A>C (p.Glu302Ala)
c.914A>C (p.Glu305Ala)
c.890A>C (p.Glu297Ala)
c.902A>C (p.Glu301Ala)
1g.17000119C>ACA338257232ATP13A2c.931G>T (p.Glu311Ter)
c.916G>T (p.Glu306Ter)
n.539G>T
n.70G>T
c.91G>T (p.Glu31Ter)
c.854G>T
c.70G>T (p.Glu24Ter)
c.928G>T (p.Glu310Ter)
c.904G>T (p.Glu302Ter)
c.913G>T (p.Glu305Ter)
c.889G>T (p.Glu297Ter)
c.901G>T (p.Glu301Ter)
1g.17000119C>GCA338257233ATP13A2c.931G>C (p.Glu311Gln)
c.916G>C (p.Glu306Gln)
n.539G>C
n.70G>C
c.91G>C (p.Glu31Gln)
c.854G>C
c.70G>C (p.Glu24Gln)
c.928G>C (p.Glu310Gln)
c.904G>C (p.Glu302Gln)
c.913G>C (p.Glu305Gln)
c.889G>C (p.Glu297Gln)
c.901G>C (p.Glu301Gln)
1g.17000119C>TCA338257234ATP13A2c.931G>A (p.Glu311Lys)
c.916G>A (p.Glu306Lys)
n.539G>A
n.70G>A
c.91G>A (p.Glu31Lys)
c.854G>A
c.70G>A (p.Glu24Lys)
c.928G>A (p.Glu310Lys)
c.904G>A (p.Glu302Lys)
c.913G>A (p.Glu305Lys)
c.889G>A (p.Glu297Lys)
c.901G>A (p.Glu301Lys)
1g.17000120A>CCA338257235ATP13A2c.930T>G (p.Ser310Arg)
c.915T>G (p.Ser305Arg)
n.538T>G
n.69T>G
c.90T>G (p.Ser30Arg)
c.853T>G
c.69T>G (p.Ser23Arg)
c.927T>G (p.Ser309Arg)
c.903T>G (p.Ser301Arg)
c.912T>G (p.Ser304Arg)
c.888T>G (p.Ser296Arg)
c.900T>G (p.Ser300Arg)
 gnomAD v4
1g.17000120A>GCA416094768ATP13A2c.930T>C (p.Ser310=)
c.915T>C (p.Ser305=)
n.538T>C
n.69T>C
c.90T>C (p.Ser30=)
c.853T>C
c.69T>C (p.Ser23=)
c.927T>C (p.Ser309=)
c.903T>C (p.Ser301=)
c.912T>C (p.Ser304=)
c.888T>C (p.Ser296=)
c.900T>C (p.Ser300=)
1g.17000120A>TCA338257236ATP13A2c.930T>A (p.Ser310Arg)
c.915T>A (p.Ser305Arg)
n.538T>A
n.69T>A
c.90T>A (p.Ser30Arg)
c.853T>A
c.69T>A (p.Ser23Arg)
c.927T>A (p.Ser309Arg)
c.903T>A (p.Ser301Arg)
c.912T>A (p.Ser304Arg)
c.888T>A (p.Ser296Arg)
c.900T>A (p.Ser300Arg)
1g.17000121C>ACA338257238ATP13A2c.929G>T (p.Ser310Ile)
c.914G>T (p.Ser305Ile)
n.537G>T
n.68G>T
c.89G>T (p.Ser30Ile)
c.852G>T
c.68G>T (p.Ser23Ile)
c.926G>T (p.Ser309Ile)
c.902G>T (p.Ser301Ile)
c.911G>T (p.Ser304Ile)
c.887G>T (p.Ser296Ile)
c.899G>T (p.Ser300Ile)
1g.17000121C>GCA338257239ATP13A2c.929G>C (p.Ser310Thr)
c.914G>C (p.Ser305Thr)
n.537G>C
n.68G>C
c.89G>C (p.Ser30Thr)
c.852G>C
c.68G>C (p.Ser23Thr)
c.926G>C (p.Ser309Thr)
c.902G>C (p.Ser301Thr)
c.911G>C (p.Ser304Thr)
c.887G>C (p.Ser296Thr)
c.899G>C (p.Ser300Thr)
1g.17000121C>TCA338257242ATP13A2c.929G>A (p.Ser310Asn)
c.914G>A (p.Ser305Asn)
n.537G>A
n.68G>A
c.89G>A (p.Ser30Asn)
c.852G>A
c.68G>A (p.Ser23Asn)
c.926G>A (p.Ser309Asn)
c.902G>A (p.Ser301Asn)
c.911G>A (p.Ser304Asn)
c.887G>A (p.Ser296Asn)
c.899G>A (p.Ser300Asn)
1g.17000122T>ACA338257245ATP13A2c.928A>T (p.Ser310Cys)
c.913A>T (p.Ser305Cys)
n.536A>T
n.67A>T
c.88A>T (p.Ser30Cys)
c.851A>T
c.67A>T (p.Ser23Cys)
c.925A>T (p.Ser309Cys)
c.901A>T (p.Ser301Cys)
c.910A>T (p.Ser304Cys)
c.886A>T (p.Ser296Cys)
c.898A>T (p.Ser300Cys)
1g.17000122T>CCA338257247ATP13A2c.928A>G (p.Ser310Gly)
c.913A>G (p.Ser305Gly)
n.536A>G
n.67A>G
c.88A>G (p.Ser30Gly)
c.851A>G
c.67A>G (p.Ser23Gly)
c.925A>G (p.Ser309Gly)
c.901A>G (p.Ser301Gly)
c.910A>G (p.Ser304Gly)
c.886A>G (p.Ser296Gly)
c.898A>G (p.Ser300Gly)
1g.17000122T>GCA338257250ATP13A2c.928A>C (p.Ser310Arg)
c.913A>C (p.Ser305Arg)
n.536A>C
n.67A>C
c.88A>C (p.Ser30Arg)
c.851A>C
c.67A>C (p.Ser23Arg)
c.925A>C (p.Ser309Arg)
c.901A>C (p.Ser301Arg)
c.910A>C (p.Ser304Arg)
c.886A>C (p.Ser296Arg)
c.898A>C (p.Ser300Arg)
1g.17000123G>ACA416094769ATP13A2c.927C>T (p.Ser309=)
c.912C>T (p.Ser304=)
n.535C>T
n.66C>T
c.87C>T (p.Ser29=)
c.850C>T
c.66C>T (p.Ser22=)
c.924C>T (p.Ser308=)
c.900C>T (p.Ser300=)
c.909C>T (p.Ser303=)
c.885C>T (p.Ser295=)
c.897C>T (p.Ser299=)
1g.17000123G>CCA416094770ATP13A2c.927C>G (p.Ser309=)
c.912C>G (p.Ser304=)
n.535C>G
n.66C>G
c.87C>G (p.Ser29=)
c.850C>G
c.66C>G (p.Ser22=)
c.924C>G (p.Ser308=)
c.900C>G (p.Ser300=)
c.909C>G (p.Ser303=)
c.885C>G (p.Ser295=)
c.897C>G (p.Ser299=)
 dbSNP gnomAD v2
1g.17000123G=CA1156038515ATP13A2c.927C= (p.Ser309=)
c.912C= (p.Ser304=)
n.535C=
n.66C=
c.87C= (p.Ser29=)
c.850C=
c.66C= (p.Ser22=)
c.924C= (p.Ser308=)
c.900C= (p.Ser300=)
c.909C= (p.Ser303=)
c.885C= (p.Ser295=)
c.897C= (p.Ser299=)
1g.17000123G>TCA416094771ATP13A2c.927C>A (p.Ser309=)
c.912C>A (p.Ser304=)
n.535C>A
n.66C>A
c.87C>A (p.Ser29=)
c.850C>A
c.66C>A (p.Ser22=)
c.924C>A (p.Ser308=)
c.900C>A (p.Ser300=)
c.909C>A (p.Ser303=)
c.885C>A (p.Ser295=)
c.897C>A (p.Ser299=)
1g.17000124G>ACA338257254ATP13A2c.926C>T (p.Ser309Phe)
c.911C>T (p.Ser304Phe)
n.534C>T
n.65C>T
c.86C>T (p.Ser29Phe)
c.849C>T
c.65C>T (p.Ser22Phe)
c.923C>T (p.Ser308Phe)
c.899C>T (p.Ser300Phe)
c.908C>T (p.Ser303Phe)
c.884C>T (p.Ser295Phe)
c.896C>T (p.Ser299Phe)
 gnomAD v4
1g.17000124G>CCA338257260ATP13A2c.926C>G (p.Ser309Cys)
c.911C>G (p.Ser304Cys)
n.534C>G
n.65C>G
c.86C>G (p.Ser29Cys)
c.849C>G
c.65C>G (p.Ser22Cys)
c.923C>G (p.Ser308Cys)
c.899C>G (p.Ser300Cys)
c.908C>G (p.Ser303Cys)
c.884C>G (p.Ser295Cys)
c.896C>G (p.Ser299Cys)
1g.17000124G>TCA338257252ATP13A2c.926C>A (p.Ser309Tyr)
c.911C>A (p.Ser304Tyr)
n.534C>A
n.65C>A
c.86C>A (p.Ser29Tyr)
c.849C>A
c.65C>A (p.Ser22Tyr)
c.923C>A (p.Ser308Tyr)
c.899C>A (p.Ser300Tyr)
c.908C>A (p.Ser303Tyr)
c.884C>A (p.Ser295Tyr)
c.896C>A (p.Ser299Tyr)
1g.17000125A>CCA338257292ATP13A2c.925T>G (p.Ser309Ala)
c.910T>G (p.Ser304Ala)
n.533T>G
n.64T>G
c.85T>G (p.Ser29Ala)
c.848T>G
c.64T>G (p.Ser22Ala)
c.922T>G (p.Ser308Ala)
c.898T>G (p.Ser300Ala)
c.907T>G (p.Ser303Ala)
c.883T>G (p.Ser295Ala)
c.895T>G (p.Ser299Ala)
1g.17000125A>GCA338257284ATP13A2c.925T>C (p.Ser309Pro)
c.910T>C (p.Ser304Pro)
n.533T>C
n.64T>C
c.85T>C (p.Ser29Pro)
c.848T>C
c.64T>C (p.Ser22Pro)
c.922T>C (p.Ser308Pro)
c.898T>C (p.Ser300Pro)
c.907T>C (p.Ser303Pro)
c.883T>C (p.Ser295Pro)
c.895T>C (p.Ser299Pro)
1g.17000125A>TCA338257294ATP13A2c.925T>A (p.Ser309Thr)
c.910T>A (p.Ser304Thr)
n.533T>A
n.64T>A
c.85T>A (p.Ser29Thr)
c.848T>A
c.64T>A (p.Ser22Thr)
c.922T>A (p.Ser308Thr)
c.898T>A (p.Ser300Thr)
c.907T>A (p.Ser303Thr)
c.883T>A (p.Ser295Thr)
c.895T>A (p.Ser299Thr)
1g.17000126G>ACA416094776ATP13A2c.924C>T (p.Asp308=)
c.909C>T (p.Asp303=)
n.532C>T
n.63C>T
c.84C>T (p.Asp28=)
c.847C>T
c.63C>T (p.Asp21=)
c.921C>T (p.Asp307=)
c.897C>T (p.Asp299=)
c.906C>T (p.Asp302=)
c.882C>T (p.Asp294=)
c.894C>T (p.Asp298=)
 gnomAD v4
1g.17000126G>CCA338257300ATP13A2c.924C>G (p.Asp308Glu)
c.909C>G (p.Asp303Glu)
n.532C>G
n.63C>G
c.84C>G (p.Asp28Glu)
c.847C>G
c.63C>G (p.Asp21Glu)
c.921C>G (p.Asp307Glu)
c.897C>G (p.Asp299Glu)
c.906C>G (p.Asp302Glu)
c.882C>G (p.Asp294Glu)
c.894C>G (p.Asp298Glu)
1g.17000126G>TCA338257302ATP13A2c.924C>A (p.Asp308Glu)
c.909C>A (p.Asp303Glu)
n.532C>A
n.63C>A
c.84C>A (p.Asp28Glu)
c.847C>A
c.63C>A (p.Asp21Glu)
c.921C>A (p.Asp307Glu)
c.897C>A (p.Asp299Glu)
c.906C>A (p.Asp302Glu)
c.882C>A (p.Asp294Glu)
c.894C>A (p.Asp298Glu)
1g.17000127T>ACA338257313ATP13A2c.923A>T (p.Asp308Val)
c.908A>T (p.Asp303Val)
n.531A>T
n.62A>T
c.83A>T (p.Asp28Val)
c.846A>T
c.62A>T (p.Asp21Val)
c.920A>T (p.Asp307Val)
c.896A>T (p.Asp299Val)
c.905A>T (p.Asp302Val)
c.881A>T (p.Asp294Val)
c.893A>T (p.Asp298Val)
1g.17000127T>CCA338257315ATP13A2c.923A>G (p.Asp308Gly)
c.908A>G (p.Asp303Gly)
n.531A>G
n.62A>G
c.83A>G (p.Asp28Gly)
c.846A>G
c.62A>G (p.Asp21Gly)
c.920A>G (p.Asp307Gly)
c.896A>G (p.Asp299Gly)
c.905A>G (p.Asp302Gly)
c.881A>G (p.Asp294Gly)
c.893A>G (p.Asp298Gly)
1g.17000127T>GCA338257319ATP13A2c.923A>C (p.Asp308Ala)
c.908A>C (p.Asp303Ala)
n.531A>C
n.62A>C
c.83A>C (p.Asp28Ala)
c.846A>C
c.62A>C (p.Asp21Ala)
c.920A>C (p.Asp307Ala)
c.896A>C (p.Asp299Ala)
c.905A>C (p.Asp302Ala)
c.881A>C (p.Asp294Ala)
c.893A>C (p.Asp298Ala)
1g.17000128C>ACA338257320ATP13A2c.922G>T (p.Asp308Tyr)
c.907G>T (p.Asp303Tyr)
n.530G>T
n.61G>T
c.82G>T (p.Asp28Tyr)
c.845G>T
c.61G>T (p.Asp21Tyr)
c.919G>T (p.Asp307Tyr)
c.895G>T (p.Asp299Tyr)
c.904G>T (p.Asp302Tyr)
c.880G>T (p.Asp294Tyr)
c.892G>T (p.Asp298Tyr)
1g.17000128C>GCA338257321ATP13A2c.922G>C (p.Asp308His)
c.907G>C (p.Asp303His)
n.530G>C
n.61G>C
c.82G>C (p.Asp28His)
c.845G>C
c.61G>C (p.Asp21His)
c.919G>C (p.Asp307His)
c.895G>C (p.Asp299His)
c.904G>C (p.Asp302His)
c.880G>C (p.Asp294His)
c.892G>C (p.Asp298His)
1g.17000128C>TCA338257324ATP13A2c.922G>A (p.Asp308Asn)
c.907G>A (p.Asp303Asn)
n.530G>A
n.61G>A
c.82G>A (p.Asp28Asn)
c.845G>A
c.61G>A (p.Asp21Asn)
c.919G>A (p.Asp307Asn)
c.895G>A (p.Asp299Asn)
c.904G>A (p.Asp302Asn)
c.880G>A (p.Asp294Asn)
c.892G>A (p.Asp298Asn)
1g.17000129C>ACA416094778ATP13A2c.921G>T (p.Val307=)
c.906G>T (p.Val302=)
n.529G>T
n.60G>T
c.81G>T (p.Val27=)
c.844G>T
c.60G>T (p.Val20=)
c.918G>T (p.Val306=)
c.894G>T (p.Val298=)
c.903G>T (p.Val301=)
c.879G>T (p.Val293=)
c.891G>T (p.Val297=)
1g.17000129C=CA1156038517ATP13A2c.921G= (p.Val307=)
c.906G= (p.Val302=)
n.529G=
n.60G=
c.81G= (p.Val27=)
c.844G=
c.60G= (p.Val20=)
c.918G= (p.Val306=)
c.894G= (p.Val298=)
c.903G= (p.Val301=)
c.879G= (p.Val293=)
c.891G= (p.Val297=)
1g.17000129C>GCA416094777ATP13A2c.921G>C (p.Val307=)
c.906G>C (p.Val302=)
n.529G>C
n.60G>C
c.81G>C (p.Val27=)
c.844G>C
c.60G>C (p.Val20=)
c.918G>C (p.Val306=)
c.894G>C (p.Val298=)
c.903G>C (p.Val301=)
c.879G>C (p.Val293=)
c.891G>C (p.Val297=)
1g.17000129C>TCA637417ATP13A2c.921G>A (p.Val307=)
c.906G>A (p.Val302=)
n.529G>A
n.60G>A
c.81G>A (p.Val27=)
c.844G>A
c.60G>A (p.Val20=)
c.918G>A (p.Val306=)
c.894G>A (p.Val298=)
c.903G>A (p.Val301=)
c.879G>A (p.Val293=)
c.891G>A (p.Val297=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17000130A>CCA338257326ATP13A2c.920T>G (p.Val307Gly)
c.905T>G (p.Val302Gly)
n.528T>G
n.59T>G
c.80T>G (p.Val27Gly)
c.843T>G
c.59T>G (p.Val20Gly)
c.917T>G (p.Val306Gly)
c.893T>G (p.Val298Gly)
c.902T>G (p.Val301Gly)
c.878T>G (p.Val293Gly)
c.890T>G (p.Val297Gly)
1g.17000130A>GCA338257327ATP13A2c.920T>C (p.Val307Ala)
c.905T>C (p.Val302Ala)
n.528T>C
n.59T>C
c.80T>C (p.Val27Ala)
c.843T>C
c.59T>C (p.Val20Ala)
c.917T>C (p.Val306Ala)
c.893T>C (p.Val298Ala)
c.902T>C (p.Val301Ala)
c.878T>C (p.Val293Ala)
c.890T>C (p.Val297Ala)
1g.17000130A>TCA338257328ATP13A2c.920T>A (p.Val307Glu)
c.905T>A (p.Val302Glu)
n.528T>A
n.59T>A
c.80T>A (p.Val27Glu)
c.843T>A
c.59T>A (p.Val20Glu)
c.917T>A (p.Val306Glu)
c.893T>A (p.Val298Glu)
c.902T>A (p.Val301Glu)
c.878T>A (p.Val293Glu)
c.890T>A (p.Val297Glu)
1g.17000131C>ACA338257336ATP13A2c.919G>T (p.Val307Leu)
c.904G>T (p.Val302Leu)
n.527G>T
n.58G>T
c.79G>T (p.Val27Leu)
c.842G>T
c.58G>T (p.Val20Leu)
c.916G>T (p.Val306Leu)
c.892G>T (p.Val298Leu)
c.901G>T (p.Val301Leu)
c.877G>T (p.Val293Leu)
c.889G>T (p.Val297Leu)
1g.17000131C=CA1156038521ATP13A2c.919G= (p.Val307=)
c.904G= (p.Val302=)
n.527G=
n.58G=
c.79G= (p.Val27=)
c.842G=
c.58G= (p.Val20=)
c.916G= (p.Val306=)
c.892G= (p.Val298=)
c.901G= (p.Val301=)
c.877G= (p.Val293=)
c.889G= (p.Val297=)
1g.17000131C>GCA338257329ATP13A2c.919G>C (p.Val307Leu)
c.904G>C (p.Val302Leu)
n.527G>C
n.58G>C
c.79G>C (p.Val27Leu)
c.842G>C
c.58G>C (p.Val20Leu)
c.916G>C (p.Val306Leu)
c.892G>C (p.Val298Leu)
c.901G>C (p.Val301Leu)
c.877G>C (p.Val293Leu)
c.889G>C (p.Val297Leu)
1g.17000131C>TCA338257331ATP13A2c.919G>A (p.Val307Met)
c.904G>A (p.Val302Met)
n.527G>A
n.58G>A
c.79G>A (p.Val27Met)
c.842G>A
c.58G>A (p.Val20Met)
c.916G>A (p.Val306Met)
c.892G>A (p.Val298Met)
c.901G>A (p.Val301Met)
c.877G>A (p.Val293Met)
c.889G>A (p.Val297Met)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.17000132C>ACA338257339ATP13A2c.918G>T (p.Trp306Cys)
c.903G>T (p.Trp301Cys)
n.526G>T
n.57G>T
c.78G>T (p.Trp26Cys)
c.841G>T
c.57G>T (p.Trp19Cys)
c.915G>T (p.Trp305Cys)
c.891G>T (p.Trp297Cys)
c.900G>T (p.Trp300Cys)
c.876G>T (p.Trp292Cys)
c.888G>T (p.Trp296Cys)
1g.17000132C>GCA338257341ATP13A2c.918G>C (p.Trp306Cys)
c.903G>C (p.Trp301Cys)
n.526G>C
n.57G>C
c.78G>C (p.Trp26Cys)
c.841G>C
c.57G>C (p.Trp19Cys)
c.915G>C (p.Trp305Cys)
c.891G>C (p.Trp297Cys)
c.900G>C (p.Trp300Cys)
c.876G>C (p.Trp292Cys)
c.888G>C (p.Trp296Cys)
1g.17000132C>TCA338257345ATP13A2c.918G>A (p.Trp306Ter)
c.903G>A (p.Trp301Ter)
n.526G>A
n.57G>A
c.78G>A (p.Trp26Ter)
c.841G>A
c.57G>A (p.Trp19Ter)
c.915G>A (p.Trp305Ter)
c.891G>A (p.Trp297Ter)
c.900G>A (p.Trp300Ter)
c.876G>A (p.Trp292Ter)
c.888G>A (p.Trp296Ter)
 gnomAD v4
1g.17000133C>ACA338257348ATP13A2c.917G>T (p.Trp306Leu)
c.902G>T (p.Trp301Leu)
n.525G>T
n.56G>T
c.77G>T (p.Trp26Leu)
c.840G>T
c.56G>T (p.Trp19Leu)
c.914G>T (p.Trp305Leu)
c.890G>T (p.Trp297Leu)
c.899G>T (p.Trp300Leu)
c.875G>T (p.Trp292Leu)
c.887G>T (p.Trp296Leu)
1g.17000133C>GCA338257354ATP13A2c.917G>C (p.Trp306Ser)
c.902G>C (p.Trp301Ser)
n.525G>C
n.56G>C
c.77G>C (p.Trp26Ser)
c.840G>C
c.56G>C (p.Trp19Ser)
c.914G>C (p.Trp305Ser)
c.890G>C (p.Trp297Ser)
c.899G>C (p.Trp300Ser)
c.875G>C (p.Trp292Ser)
c.887G>C (p.Trp296Ser)
1g.17000133C>TCA338257356ATP13A2c.917G>A (p.Trp306Ter)
c.902G>A (p.Trp301Ter)
n.525G>A
n.56G>A
c.77G>A (p.Trp26Ter)
c.840G>A
c.56G>A (p.Trp19Ter)
c.914G>A (p.Trp305Ter)
c.890G>A (p.Trp297Ter)
c.899G>A (p.Trp300Ter)
c.875G>A (p.Trp292Ter)
c.887G>A (p.Trp296Ter)
1g.17000134A=CA1143413778ATP13A2c.916T= (p.Trp306=)
c.901T= (p.Trp301=)
n.524T=
n.55T=
c.76T= (p.Trp26=)
c.839T=
c.55T= (p.Trp19=)
c.913T= (p.Trp305=)
c.889T= (p.Trp297=)
c.898T= (p.Trp300=)
c.874T= (p.Trp292=)
c.886T= (p.Trp296=)
1g.17000134A>CCA338257358ATP13A2c.916T>G (p.Trp306Gly)
c.901T>G (p.Trp301Gly)
n.524T>G
n.55T>G
c.76T>G (p.Trp26Gly)
c.839T>G
c.55T>G (p.Trp19Gly)
c.913T>G (p.Trp305Gly)
c.889T>G (p.Trp297Gly)
c.898T>G (p.Trp300Gly)
c.874T>G (p.Trp292Gly)
c.886T>G (p.Trp296Gly)
1g.17000134A>GCA637418ATP13A2c.916T>C (p.Trp306Arg)
c.901T>C (p.Trp301Arg)
n.524T>C
n.55T>C
c.76T>C (p.Trp26Arg)
c.839T>C
c.55T>C (p.Trp19Arg)
c.913T>C (p.Trp305Arg)
c.889T>C (p.Trp297Arg)
c.898T>C (p.Trp300Arg)
c.874T>C (p.Trp292Arg)
c.886T>C (p.Trp296Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17000134A>TCA338257361ATP13A2c.916T>A (p.Trp306Arg)
c.901T>A (p.Trp301Arg)
n.524T>A
n.55T>A
c.76T>A (p.Trp26Arg)
c.839T>A
c.55T>A (p.Trp19Arg)
c.913T>A (p.Trp305Arg)
c.889T>A (p.Trp297Arg)
c.898T>A (p.Trp300Arg)
c.874T>A (p.Trp292Arg)
c.886T>A (p.Trp296Arg)
1g.17000135C>ACA338257374ATP13A2c.915G>T (p.Glu305Asp)
c.900G>T (p.Glu300Asp)
n.523G>T
n.54G>T
c.75G>T (p.Glu25Asp)
c.838G>T
c.54G>T (p.Glu18Asp)
c.912G>T (p.Glu304Asp)
c.888G>T (p.Glu296Asp)
c.897G>T (p.Glu299Asp)
c.873G>T (p.Glu291Asp)
c.885G>T (p.Glu295Asp)
1g.17000135C=CA1156038531ATP13A2c.915G= (p.Glu305=)
c.900G= (p.Glu300=)
n.523G=
n.54G=
c.75G= (p.Glu25=)
c.838G=
c.54G= (p.Glu18=)
c.912G= (p.Glu304=)
c.888G= (p.Glu296=)
c.897G= (p.Glu299=)
c.873G= (p.Glu291=)
c.885G= (p.Glu295=)
1g.17000135C>GCA338257376ATP13A2c.915G>C (p.Glu305Asp)
c.900G>C (p.Glu300Asp)
n.523G>C
n.54G>C
c.75G>C (p.Glu25Asp)
c.838G>C
c.54G>C (p.Glu18Asp)
c.912G>C (p.Glu304Asp)
c.888G>C (p.Glu296Asp)
c.897G>C (p.Glu299Asp)
c.873G>C (p.Glu291Asp)
c.885G>C (p.Glu295Asp)
 dbSNP
1g.17000135C>TCA416094787ATP13A2c.915G>A (p.Glu305=)
c.900G>A (p.Glu300=)
n.523G>A
n.54G>A
c.75G>A (p.Glu25=)
c.838G>A
c.54G>A (p.Glu18=)
c.912G>A (p.Glu304=)
c.888G>A (p.Glu296=)
c.897G>A (p.Glu299=)
c.873G>A (p.Glu291=)
c.885G>A (p.Glu295=)
 dbSNP
1g.17000136T>ACA338257379ATP13A2c.914A>T (p.Glu305Val)
c.899A>T (p.Glu300Val)
n.522A>T
n.53A>T
c.74A>T (p.Glu25Val)
c.837A>T
c.53A>T (p.Glu18Val)
c.911A>T (p.Glu304Val)
c.887A>T (p.Glu296Val)
c.896A>T (p.Glu299Val)
c.872A>T (p.Glu291Val)
c.884A>T (p.Glu295Val)
1g.17000136T>CCA338257380ATP13A2c.914A>G (p.Glu305Gly)
c.899A>G (p.Glu300Gly)
n.522A>G
n.53A>G
c.74A>G (p.Glu25Gly)
c.837A>G
c.53A>G (p.Glu18Gly)
c.911A>G (p.Glu304Gly)
c.887A>G (p.Glu296Gly)
c.896A>G (p.Glu299Gly)
c.872A>G (p.Glu291Gly)
c.884A>G (p.Glu295Gly)
1g.17000136T>GCA338257378ATP13A2c.914A>C (p.Glu305Ala)
c.899A>C (p.Glu300Ala)
n.522A>C
n.53A>C
c.74A>C (p.Glu25Ala)
c.837A>C
c.53A>C (p.Glu18Ala)
c.911A>C (p.Glu304Ala)
c.887A>C (p.Glu296Ala)
c.896A>C (p.Glu299Ala)
c.872A>C (p.Glu291Ala)
c.884A>C (p.Glu295Ala)
1g.17000137C>ACA338257381ATP13A2c.913G>T (p.Glu305Ter)
c.898G>T (p.Glu300Ter)
n.521G>T
n.52G>T
c.73G>T (p.Glu25Ter)
c.836G>T
c.52G>T (p.Glu18Ter)
c.910G>T (p.Glu304Ter)
c.886G>T (p.Glu296Ter)
c.895G>T (p.Glu299Ter)
c.871G>T (p.Glu291Ter)
c.883G>T (p.Glu295Ter)
1g.17000137C>GCA338257382ATP13A2c.913G>C (p.Glu305Gln)
c.898G>C (p.Glu300Gln)
n.521G>C
n.52G>C
c.73G>C (p.Glu25Gln)
c.836G>C
c.52G>C (p.Glu18Gln)
c.910G>C (p.Glu304Gln)
c.886G>C (p.Glu296Gln)
c.895G>C (p.Glu299Gln)
c.871G>C (p.Glu291Gln)
c.883G>C (p.Glu295Gln)
1g.17000137C>TCA338257383ATP13A2c.913G>A (p.Glu305Lys)
c.898G>A (p.Glu300Lys)
n.521G>A
n.52G>A
c.73G>A (p.Glu25Lys)
c.836G>A
c.52G>A (p.Glu18Lys)
c.910G>A (p.Glu304Lys)
c.886G>A (p.Glu296Lys)
c.895G>A (p.Glu299Lys)
c.871G>A (p.Glu291Lys)
c.883G>A (p.Glu295Lys)
1g.17000138T>ACA338257385ATP13A2c.912A>T (p.Glu304Asp)
c.897A>T (p.Glu299Asp)
n.520A>T
n.51A>T
c.72A>T (p.Glu24Asp)
c.835A>T
c.51A>T (p.Glu17Asp)
c.909A>T (p.Glu303Asp)
c.885A>T (p.Glu295Asp)
c.894A>T (p.Glu298Asp)
c.870A>T (p.Glu290Asp)
c.882A>T (p.Glu294Asp)
1g.17000138T>CCA416094792ATP13A2c.912A>G (p.Glu304=)
c.897A>G (p.Glu299=)
n.520A>G
n.51A>G
c.72A>G (p.Glu24=)
c.835A>G
c.51A>G (p.Glu17=)
c.909A>G (p.Glu303=)
c.885A>G (p.Glu295=)
c.894A>G (p.Glu298=)
c.870A>G (p.Glu290=)
c.882A>G (p.Glu294=)
1g.17000138T>GCA637419ATP13A2c.912A>C (p.Glu304Asp)
c.897A>C (p.Glu299Asp)
n.520A>C
n.51A>C
c.72A>C (p.Glu24Asp)
c.835A>C
c.51A>C (p.Glu17Asp)
c.909A>C (p.Glu303Asp)
c.885A>C (p.Glu295Asp)
c.894A>C (p.Glu298Asp)
c.870A>C (p.Glu290Asp)
c.882A>C (p.Glu294Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.17000138T=CA1156038540ATP13A2c.912A= (p.Glu304=)
c.897A= (p.Glu299=)
n.520A=
n.51A=
c.72A= (p.Glu24=)
c.835A=
c.51A= (p.Glu17=)
c.909A= (p.Glu303=)
c.885A= (p.Glu295=)
c.894A= (p.Glu298=)
c.870A= (p.Glu290=)
c.882A= (p.Glu294=)
1g.17000139T>ACA338257387ATP13A2c.911A>T (p.Glu304Val)
c.896A>T (p.Glu299Val)
n.519A>T
n.50A>T
c.71A>T (p.Glu24Val)
c.834A>T
c.50A>T (p.Glu17Val)
c.908A>T (p.Glu303Val)
c.884A>T (p.Glu295Val)
c.893A>T (p.Glu298Val)
c.869A>T (p.Glu290Val)
c.881A>T (p.Glu294Val)
1g.17000139T>CCA18641806ATP13A2c.911A>G (p.Glu304Gly)
c.896A>G (p.Glu299Gly)
n.519A>G
n.50A>G
c.71A>G (p.Glu24Gly)
c.834A>G
c.50A>G (p.Glu17Gly)
c.908A>G (p.Glu303Gly)
c.884A>G (p.Glu295Gly)
c.893A>G (p.Glu298Gly)
c.869A>G (p.Glu290Gly)
c.881A>G (p.Glu294Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.17000139T>GCA338257391ATP13A2c.911A>C (p.Glu304Ala)
c.896A>C (p.Glu299Ala)
n.519A>C
n.50A>C
c.71A>C (p.Glu24Ala)
c.834A>C
c.50A>C (p.Glu17Ala)
c.908A>C (p.Glu303Ala)
c.884A>C (p.Glu295Ala)
c.893A>C (p.Glu298Ala)
c.869A>C (p.Glu290Ala)
c.881A>C (p.Glu294Ala)
1g.17000139T=CA1156038543ATP13A2c.911A= (p.Glu304=)
c.896A= (p.Glu299=)
n.519A=
n.50A=
c.71A= (p.Glu24=)
c.834A=
c.50A= (p.Glu17=)
c.908A= (p.Glu303=)
c.884A= (p.Glu295=)
c.893A= (p.Glu298=)
c.869A= (p.Glu290=)
c.881A= (p.Glu294=)
1g.17000140C>ACA338257394ATP13A2c.910G>T (p.Glu304Ter)
c.895G>T (p.Glu299Ter)
n.518G>T
n.49G>T
c.70G>T (p.Glu24Ter)
c.833G>T
c.49G>T (p.Glu17Ter)
c.907G>T (p.Glu303Ter)
c.883G>T (p.Glu295Ter)
c.892G>T (p.Glu298Ter)
c.868G>T (p.Glu290Ter)
c.880G>T (p.Glu294Ter)
1g.17000140C>GCA338257397ATP13A2c.910G>C (p.Glu304Gln)
c.895G>C (p.Glu299Gln)
n.518G>C
n.49G>C
c.70G>C (p.Glu24Gln)
c.833G>C
c.49G>C (p.Glu17Gln)
c.907G>C (p.Glu303Gln)
c.883G>C (p.Glu295Gln)
c.892G>C (p.Glu298Gln)
c.868G>C (p.Glu290Gln)
c.880G>C (p.Glu294Gln)
1g.17000140C>TCA338257403ATP13A2c.910G>A (p.Glu304Lys)
c.895G>A (p.Glu299Lys)
n.518G>A
n.49G>A
c.70G>A (p.Glu24Lys)
c.833G>A
c.49G>A (p.Glu17Lys)
c.907G>A (p.Glu303Lys)
c.883G>A (p.Glu295Lys)
c.892G>A (p.Glu298Lys)
c.868G>A (p.Glu290Lys)
c.880G>A (p.Glu294Lys)
1g.17000141C>ACA338257406ATP13A2c.909G>T (p.Glu303Asp)
c.894G>T (p.Glu298Asp)
n.517G>T
n.48G>T
c.69G>T (p.Glu23Asp)
c.832G>T
c.48G>T (p.Glu16Asp)
c.906G>T (p.Glu302Asp)
c.882G>T (p.Glu294Asp)
c.891G>T (p.Glu297Asp)
c.867G>T (p.Glu289Asp)
c.879G>T (p.Glu293Asp)
 COSMIC COSMIC
1g.17000141C>GCA338257409ATP13A2c.909G>C (p.Glu303Asp)
c.894G>C (p.Glu298Asp)
n.517G>C
n.48G>C
c.69G>C (p.Glu23Asp)
c.832G>C
c.48G>C (p.Glu16Asp)
c.906G>C (p.Glu302Asp)
c.882G>C (p.Glu294Asp)
c.891G>C (p.Glu297Asp)
c.867G>C (p.Glu289Asp)
c.879G>C (p.Glu293Asp)
1g.17000141C>TCA416094794ATP13A2c.909G>A (p.Glu303=)
c.894G>A (p.Glu298=)
n.517G>A
n.48G>A
c.69G>A (p.Glu23=)
c.832G>A
c.48G>A (p.Glu16=)
c.906G>A (p.Glu302=)
c.882G>A (p.Glu294=)
c.891G>A (p.Glu297=)
c.867G>A (p.Glu289=)
c.879G>A (p.Glu293=)
1g.17000142delCA2643675478ATP13A2c.908del (p.Glu303GlyfsTer10)
c.893del (p.Glu298GlyfsTer10)
n.516del
n.47del
c.68del (p.Glu23GlyfsTer10)
c.831del
c.47del (p.Glu16GlyfsTer10)
c.905del (p.Glu302GlyfsTer10)
c.881del (p.Glu294GlyfsTer10)
c.890del (p.Glu297GlyfsTer10)
c.866del (p.Glu289GlyfsTer10)
c.878del (p.Glu293GlyfsTer10)
 gnomAD v4
1g.17000142T>ACA338257421ATP13A2c.908A>T (p.Glu303Val)
c.893A>T (p.Glu298Val)
n.516A>T
n.47A>T
c.68A>T (p.Glu23Val)
c.831A>T
c.47A>T (p.Glu16Val)
c.905A>T (p.Glu302Val)
c.881A>T (p.Glu294Val)
c.890A>T (p.Glu297Val)
c.866A>T (p.Glu289Val)
c.878A>T (p.Glu293Val)
1g.17000142T>CCA338257417ATP13A2c.908A>G (p.Glu303Gly)
c.893A>G (p.Glu298Gly)
n.516A>G
n.47A>G
c.68A>G (p.Glu23Gly)
c.831A>G
c.47A>G (p.Glu16Gly)
c.905A>G (p.Glu302Gly)
c.881A>G (p.Glu294Gly)
c.890A>G (p.Glu297Gly)
c.866A>G (p.Glu289Gly)
c.878A>G (p.Glu293Gly)
1g.17000142T>GCA338257415ATP13A2c.908A>C (p.Glu303Ala)
c.893A>C (p.Glu298Ala)
n.516A>C
n.47A>C
c.68A>C (p.Glu23Ala)
c.831A>C
c.47A>C (p.Glu16Ala)
c.905A>C (p.Glu302Ala)
c.881A>C (p.Glu294Ala)
c.890A>C (p.Glu297Ala)
c.866A>C (p.Glu289Ala)
c.878A>C (p.Glu293Ala)
1g.17000143C>ACA338257425ATP13A2c.908-1G>T (n.908-1G>T)
c.893-1G>T (n.893-1G>T)
n.516-1G>T
n.47-1G>T
c.68-1G>T (n.68-1G>T)
c.831-1G>T
c.47-1G>T (n.47-1G>T)
c.905-1G>T (n.905-1G>T)
c.881-1G>T (n.881-1G>T)
c.890-1G>T (n.890-1G>T)
c.866-1G>T (n.866-1G>T)
c.878-1G>T (n.878-1G>T)
1g.17000143C>GCA338257426ATP13A2c.908-1G>C (n.908-1G>C)
c.893-1G>C (n.893-1G>C)
n.516-1G>C
n.47-1G>C
c.68-1G>C (n.68-1G>C)
c.831-1G>C
c.47-1G>C (n.47-1G>C)
c.905-1G>C (n.905-1G>C)
c.881-1G>C (n.881-1G>C)
c.890-1G>C (n.890-1G>C)
c.866-1G>C (n.866-1G>C)
c.878-1G>C (n.878-1G>C)
1g.17000143C>TCA338257429ATP13A2c.908-1G>A (n.908-1G>A)
c.893-1G>A (n.893-1G>A)
n.516-1G>A
n.47-1G>A
c.68-1G>A (n.68-1G>A)
c.831-1G>A
c.47-1G>A (n.47-1G>A)
c.905-1G>A (n.905-1G>A)
c.881-1G>A (n.881-1G>A)
c.890-1G>A (n.890-1G>A)
c.866-1G>A (n.866-1G>A)
c.878-1G>A (n.878-1G>A)
1g.17000145_17000247delCA521449916ATP13A2c.907+1_908-1del
c.892+1_893-1del
n.515+1_516-1del
n.46+1_47-1del
c.67+1_68-1del
c.830+1_831-1del
c.46+1_47-1del
c.904+1_905-1del
c.880+1_881-1del
c.889+1_890-1del
c.865+1_866-1del
c.877+1_878-1del
 gnomAD v2 gnomAD v4
1g.17000144T>ACA338257430ATP13A2c.908-2A>T (n.908-2A>T)
c.893-2A>T (n.893-2A>T)
n.516-2A>T
n.47-2A>T
c.68-2A>T (n.68-2A>T)
c.831-2A>T
c.47-2A>T (n.47-2A>T)
c.905-2A>T (n.905-2A>T)
c.881-2A>T (n.881-2A>T)
c.890-2A>T (n.890-2A>T)
c.866-2A>T (n.866-2A>T)
c.878-2A>T (n.878-2A>T)
1g.17000144T>CCA338257431ATP13A2c.908-2A>G (n.908-2A>G)
c.893-2A>G (n.893-2A>G)
n.516-2A>G
n.47-2A>G
c.68-2A>G (n.68-2A>G)
c.831-2A>G
c.47-2A>G (n.47-2A>G)
c.905-2A>G (n.905-2A>G)
c.881-2A>G (n.881-2A>G)
c.890-2A>G (n.890-2A>G)
c.866-2A>G (n.866-2A>G)
c.878-2A>G (n.878-2A>G)
1g.17000144T>GCA338257432ATP13A2c.908-2A>C (n.908-2A>C)
c.893-2A>C (n.893-2A>C)
n.516-2A>C
n.47-2A>C
c.68-2A>C (n.68-2A>C)
c.831-2A>C
c.47-2A>C (n.47-2A>C)
c.905-2A>C (n.905-2A>C)
c.881-2A>C (n.881-2A>C)
c.890-2A>C (n.890-2A>C)
c.866-2A>C (n.866-2A>C)
c.878-2A>C (n.878-2A>C)
1g.17000144T=CA1156038552ATP13A2c.908-2A= (n.908-2A=)
c.893-2A= (n.893-2A=)
n.516-2A=
n.47-2A=
c.68-2A= (n.68-2A=)
c.831-2A=
c.47-2A= (n.47-2A=)
c.905-2A= (n.905-2A=)
c.881-2A= (n.881-2A=)
c.890-2A= (n.890-2A=)
c.866-2A= (n.866-2A=)
c.878-2A= (n.878-2A=)
1g.17000145G>ACA637420ATP13A2c.908-3C>T (n.908-3C>T)
c.893-3C>T (n.893-3C>T)
n.516-3C>T
n.47-3C>T
c.68-3C>T (n.68-3C>T)
c.831-3C>T
c.47-3C>T (n.47-3C>T)
c.905-3C>T (n.905-3C>T)
c.881-3C>T (n.881-3C>T)
c.890-3C>T (n.890-3C>T)
c.866-3C>T (n.866-3C>T)
c.878-3C>T (n.878-3C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.17000145G=CA1156038556ATP13A2c.908-3C= (n.908-3C=)
c.893-3C= (n.893-3C=)
n.516-3C=
n.47-3C=
c.68-3C= (n.68-3C=)
c.831-3C=
c.47-3C= (n.47-3C=)
c.905-3C= (n.905-3C=)
c.881-3C= (n.881-3C=)
c.890-3C= (n.890-3C=)
c.866-3C= (n.866-3C=)
c.878-3C= (n.878-3C=)
1g.17000154_17000157dupCA521449917ATP13A2c.908-6_908-3dup (n.908-6_908-3dup)
c.893-6_893-3dup (n.893-6_893-3dup)
n.516-6_516-3dup
n.47-6_47-3dup
c.68-6_68-3dup (n.68-6_68-3dup)
c.831-6_831-3dup
c.47-6_47-3dup (n.47-6_47-3dup)
c.905-6_905-3dup (n.905-6_905-3dup)
c.881-6_881-3dup (n.881-6_881-3dup)
c.890-6_890-3dup (n.890-6_890-3dup)
c.866-6_866-3dup (n.866-6_866-3dup)
c.878-6_878-3dup (n.878-6_878-3dup)
 dbSNP gnomAD v2 gnomAD v4
1g.17000146C>TCA2643675498ATP13A2c.908-4G>A (n.908-4G>A)
c.893-4G>A (n.893-4G>A)
n.516-4G>A
n.47-4G>A
c.68-4G>A (n.68-4G>A)
c.831-4G>A
c.47-4G>A (n.47-4G>A)
c.905-4G>A (n.905-4G>A)
c.881-4G>A (n.881-4G>A)
c.890-4G>A (n.890-4G>A)
c.866-4G>A (n.866-4G>A)
c.878-4G>A (n.878-4G>A)
 gnomAD v4
1g.17000149G>ACA18641814ATP13A2c.908-7C>T (n.908-7C>T)
c.893-7C>T (n.893-7C>T)
n.516-7C>T
n.47-7C>T
c.68-7C>T (n.68-7C>T)
c.831-7C>T
c.47-7C>T (n.47-7C>T)
c.905-7C>T (n.905-7C>T)
c.881-7C>T (n.881-7C>T)
c.890-7C>T (n.890-7C>T)
c.866-7C>T (n.866-7C>T)
c.878-7C>T (n.878-7C>T)
 dbSNP gnomAD v4
1g.17000149G=CA1156038560ATP13A2c.908-7C= (n.908-7C=)
c.893-7C= (n.893-7C=)
n.516-7C=
n.47-7C=
c.68-7C= (n.68-7C=)
c.831-7C=
c.47-7C= (n.47-7C=)
c.905-7C= (n.905-7C=)
c.881-7C= (n.881-7C=)
c.890-7C= (n.890-7C=)
c.866-7C= (n.866-7C=)
c.878-7C= (n.878-7C=)
1g.17000150C>ACA2643675503ATP13A2c.908-8G>T (n.908-8G>T)
c.893-8G>T (n.893-8G>T)
n.516-8G>T
n.47-8G>T
c.68-8G>T (n.68-8G>T)
c.831-8G>T
c.47-8G>T (n.47-8G>T)
c.905-8G>T (n.905-8G>T)
c.881-8G>T (n.881-8G>T)
c.890-8G>T (n.890-8G>T)
c.866-8G>T (n.866-8G>T)
c.878-8G>T (n.878-8G>T)
 gnomAD v4
1g.17000150C=CA1156038561ATP13A2c.908-8G= (n.908-8G=)
c.893-8G= (n.893-8G=)
n.516-8G=
n.47-8G=
c.68-8G= (n.68-8G=)
c.831-8G=
c.47-8G= (n.47-8G=)
c.905-8G= (n.905-8G=)
c.881-8G= (n.881-8G=)
c.890-8G= (n.890-8G=)
c.866-8G= (n.866-8G=)
c.878-8G= (n.878-8G=)
1g.17000150C>TCA637421ATP13A2c.908-8G>A (n.908-8G>A)
c.893-8G>A (n.893-8G>A)
n.516-8G>A
n.47-8G>A
c.68-8G>A (n.68-8G>A)
c.831-8G>A
c.47-8G>A (n.47-8G>A)
c.905-8G>A (n.905-8G>A)
c.881-8G>A (n.881-8G>A)
c.890-8G>A (n.890-8G>A)
c.866-8G>A (n.866-8G>A)
c.878-8G>A (n.878-8G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17000151A>CCA2643675508ATP13A2c.908-9T>G (n.908-9T>G)
c.893-9T>G (n.893-9T>G)
n.516-9T>G
n.47-9T>G
c.68-9T>G (n.68-9T>G)
c.831-9T>G
c.47-9T>G (n.47-9T>G)
c.905-9T>G (n.905-9T>G)
c.881-9T>G (n.881-9T>G)
c.890-9T>G (n.890-9T>G)
c.866-9T>G (n.866-9T>G)
c.878-9T>G (n.878-9T>G)
 gnomAD v4
1g.17000152G>ACA2643675512ATP13A2c.908-10C>T (n.908-10C>T)
c.893-10C>T (n.893-10C>T)
n.516-10C>T
n.47-10C>T
c.68-10C>T (n.68-10C>T)
c.831-10C>T
c.47-10C>T (n.47-10C>T)
c.905-10C>T (n.905-10C>T)
c.881-10C>T (n.881-10C>T)
c.890-10C>T (n.890-10C>T)
c.866-10C>T (n.866-10C>T)
c.878-10C>T (n.878-10C>T)
 gnomAD v4
1g.17000152G>CCA2574235154ATP13A2c.908-10C>G (n.908-10C>G)
c.893-10C>G (n.893-10C>G)
n.516-10C>G
n.47-10C>G
c.68-10C>G (n.68-10C>G)
c.831-10C>G
c.47-10C>G (n.47-10C>G)
c.905-10C>G (n.905-10C>G)
c.881-10C>G (n.881-10C>G)
c.890-10C>G (n.890-10C>G)
c.866-10C>G (n.866-10C>G)
c.878-10C>G (n.878-10C>G)
 gnomAD v4
1g.17000153G>ACA2643675515ATP13A2c.908-11C>T (n.908-11C>T)
c.893-11C>T (n.893-11C>T)
n.516-11C>T
n.47-11C>T
c.68-11C>T (n.68-11C>T)
c.831-11C>T
c.47-11C>T (n.47-11C>T)
c.905-11C>T (n.905-11C>T)
c.881-11C>T (n.881-11C>T)
c.890-11C>T (n.890-11C>T)
c.866-11C>T (n.866-11C>T)
c.878-11C>T (n.878-11C>T)
 gnomAD v4
1g.17000154C>ACA1156038563ATP13A2c.908-12G>T (n.908-12G>T)
c.893-12G>T (n.893-12G>T)
n.516-12G>T
n.47-12G>T
c.68-12G>T (n.68-12G>T)
c.831-12G>T
c.47-12G>T (n.47-12G>T)
c.905-12G>T (n.905-12G>T)
c.881-12G>T (n.881-12G>T)
c.890-12G>T (n.890-12G>T)
c.866-12G>T (n.866-12G>T)
c.878-12G>T (n.878-12G>T)
 dbSNP
1g.17000154C=CA1156038562ATP13A2c.908-12G= (n.908-12G=)
c.893-12G= (n.893-12G=)
n.516-12G=
n.47-12G=
c.68-12G= (n.68-12G=)
c.831-12G=
c.47-12G= (n.47-12G=)
c.905-12G= (n.905-12G=)
c.881-12G= (n.881-12G=)
c.890-12G= (n.890-12G=)
c.866-12G= (n.866-12G=)
c.878-12G= (n.878-12G=)
1g.17000155A>CCA2580060648ATP13A2c.908-13T>G (n.908-13T>G)
c.893-13T>G (n.893-13T>G)
n.516-13T>G
n.47-13T>G
c.68-13T>G (n.68-13T>G)
c.831-13T>G
c.47-13T>G (n.47-13T>G)
c.905-13T>G (n.905-13T>G)
c.881-13T>G (n.881-13T>G)
c.890-13T>G (n.890-13T>G)
c.866-13T>G (n.866-13T>G)
c.878-13T>G (n.878-13T>G)
 ClinVar
1g.17000156G>ACA637422ATP13A2c.908-14C>T (n.908-14C>T)
c.893-14C>T (n.893-14C>T)
n.516-14C>T
n.47-14C>T
c.68-14C>T (n.68-14C>T)
c.831-14C>T
c.47-14C>T (n.47-14C>T)
c.905-14C>T (n.905-14C>T)
c.881-14C>T (n.881-14C>T)
c.890-14C>T (n.890-14C>T)
c.866-14C>T (n.866-14C>T)
c.878-14C>T (n.878-14C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17000156G>CCA2643675518ATP13A2c.908-14C>G (n.908-14C>G)
c.893-14C>G (n.893-14C>G)
n.516-14C>G
n.47-14C>G
c.68-14C>G (n.68-14C>G)
c.831-14C>G
c.47-14C>G (n.47-14C>G)
c.905-14C>G (n.905-14C>G)
c.881-14C>G (n.881-14C>G)
c.890-14C>G (n.890-14C>G)
c.866-14C>G (n.866-14C>G)
c.878-14C>G (n.878-14C>G)
 gnomAD v4
1g.17000156G=CA1144971237ATP13A2c.908-14C= (n.908-14C=)
c.893-14C= (n.893-14C=)
n.516-14C=
n.47-14C=
c.68-14C= (n.68-14C=)
c.831-14C=
c.47-14C= (n.47-14C=)
c.905-14C= (n.905-14C=)
c.881-14C= (n.881-14C=)
c.890-14C= (n.890-14C=)
c.866-14C= (n.866-14C=)
c.878-14C= (n.878-14C=)
1g.17000160_17000161dupCA2643675519ATP13A2c.908-16_908-15dup (n.908-16_908-15dup)
c.893-16_893-15dup (n.893-16_893-15dup)
n.516-16_516-15dup
n.47-16_47-15dup
c.68-16_68-15dup (n.68-16_68-15dup)
c.831-16_831-15dup
c.47-16_47-15dup (n.47-16_47-15dup)
c.905-16_905-15dup (n.905-16_905-15dup)
c.881-16_881-15dup (n.881-16_881-15dup)
c.890-16_890-15dup (n.890-16_890-15dup)
c.866-16_866-15dup (n.866-16_866-15dup)
c.878-16_878-15dup (n.878-16_878-15dup)
 gnomAD v4
1g.17000159G>ACA2643675522ATP13A2c.908-17C>T (n.908-17C>T)
c.893-17C>T (n.893-17C>T)
n.516-17C>T
n.47-17C>T
c.68-17C>T (n.68-17C>T)
c.831-17C>T
c.47-17C>T (n.47-17C>T)
c.905-17C>T (n.905-17C>T)
c.881-17C>T (n.881-17C>T)
c.890-17C>T (n.890-17C>T)
c.866-17C>T (n.866-17C>T)
c.878-17C>T (n.878-17C>T)
 gnomAD v4
1g.17000159G>CCA2742637384ATP13A2c.908-17C>G (n.908-17C>G)
c.893-17C>G (n.893-17C>G)
n.516-17C>G
n.47-17C>G
c.68-17C>G (n.68-17C>G)
c.831-17C>G
c.47-17C>G (n.47-17C>G)
c.905-17C>G (n.905-17C>G)
c.881-17C>G (n.881-17C>G)
c.890-17C>G (n.890-17C>G)
c.866-17C>G (n.866-17C>G)
c.878-17C>G (n.878-17C>G)
1g.17000159G>TCA2643675523ATP13A2c.908-17C>A (n.908-17C>A)
c.893-17C>A (n.893-17C>A)
n.516-17C>A
n.47-17C>A
c.68-17C>A (n.68-17C>A)
c.831-17C>A
c.47-17C>A (n.47-17C>A)
c.905-17C>A (n.905-17C>A)
c.881-17C>A (n.881-17C>A)
c.890-17C>A (n.890-17C>A)
c.866-17C>A (n.866-17C>A)
c.878-17C>A (n.878-17C>A)
 gnomAD v4
1g.17000162_17000164delCA2643675521ATP13A2c.908-19_908-17del (n.908-19_908-17del)
c.893-19_893-17del (n.893-19_893-17del)
n.516-19_516-17del
n.47-19_47-17del
c.68-19_68-17del (n.68-19_68-17del)
c.831-19_831-17del
c.47-19_47-17del (n.47-19_47-17del)
c.905-19_905-17del (n.905-19_905-17del)
c.881-19_881-17del (n.881-19_881-17del)
c.890-19_890-17del (n.890-19_890-17del)
c.866-19_866-17del (n.866-19_866-17del)
c.878-19_878-17del (n.878-19_878-17del)
 gnomAD v4
1g.17000160A=CA1144153255ATP13A2c.908-18T= (n.908-18T=)
c.893-18T= (n.893-18T=)
n.516-18T=
n.47-18T=
c.68-18T= (n.68-18T=)
c.831-18T=
c.47-18T= (n.47-18T=)
c.905-18T= (n.905-18T=)
c.881-18T= (n.881-18T=)
c.890-18T= (n.890-18T=)
c.866-18T= (n.866-18T=)
c.878-18T= (n.878-18T=)
1g.17000160A>GCA2643675525ATP13A2c.908-18T>C (n.908-18T>C)
c.893-18T>C (n.893-18T>C)
n.516-18T>C
n.47-18T>C
c.68-18T>C (n.68-18T>C)
c.831-18T>C
c.47-18T>C (n.47-18T>C)
c.905-18T>C (n.905-18T>C)
c.881-18T>C (n.881-18T>C)
c.890-18T>C (n.890-18T>C)
c.866-18T>C (n.866-18T>C)
c.878-18T>C (n.878-18T>C)
 gnomAD v4
1g.17000160A>TCA637423ATP13A2c.908-18T>A (n.908-18T>A)
c.893-18T>A (n.893-18T>A)
n.516-18T>A
n.47-18T>A
c.68-18T>A (n.68-18T>A)
c.831-18T>A
c.47-18T>A (n.47-18T>A)
c.905-18T>A (n.905-18T>A)
c.881-18T>A (n.881-18T>A)
c.890-18T>A (n.890-18T>A)
c.866-18T>A (n.866-18T>A)
c.878-18T>A (n.878-18T>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17000161G>ACA999067049ATP13A2c.908-19C>T (n.908-19C>T)
c.893-19C>T (n.893-19C>T)
n.516-19C>T
n.47-19C>T
c.68-19C>T (n.68-19C>T)
c.831-19C>T
c.47-19C>T (n.47-19C>T)
c.905-19C>T (n.905-19C>T)
c.881-19C>T (n.881-19C>T)
c.890-19C>T (n.890-19C>T)
c.866-19C>T (n.866-19C>T)
c.878-19C>T (n.878-19C>T)
 ClinVar dbSNP gnomAD v4
1g.17000161G=CA1156038569ATP13A2c.908-19C= (n.908-19C=)
c.893-19C= (n.893-19C=)
n.516-19C=
n.47-19C=
c.68-19C= (n.68-19C=)
c.831-19C=
c.47-19C= (n.47-19C=)
c.905-19C= (n.905-19C=)
c.881-19C= (n.881-19C=)
c.890-19C= (n.890-19C=)
c.866-19C= (n.866-19C=)
c.878-19C= (n.878-19C=)
1g.17000161G>TCA2643675527ATP13A2c.908-19C>A (n.908-19C>A)
c.893-19C>A (n.893-19C>A)
n.516-19C>A
n.47-19C>A
c.68-19C>A (n.68-19C>A)
c.831-19C>A
c.47-19C>A (n.47-19C>A)
c.905-19C>A (n.905-19C>A)
c.881-19C>A (n.881-19C>A)
c.890-19C>A (n.890-19C>A)
c.866-19C>A (n.866-19C>A)
c.878-19C>A (n.878-19C>A)
 gnomAD v4
1g.17000162G>ACA2573130744ATP13A2c.908-20C>T (n.908-20C>T)
c.893-20C>T (n.893-20C>T)
n.516-20C>T
n.47-20C>T
c.68-20C>T (n.68-20C>T)
c.831-20C>T
c.47-20C>T (n.47-20C>T)
c.905-20C>T (n.905-20C>T)
c.881-20C>T (n.881-20C>T)
c.890-20C>T (n.890-20C>T)
c.866-20C>T (n.866-20C>T)
c.878-20C>T (n.878-20C>T)
 ClinVar dbSNP
1g.17000164G>ACA2643675530ATP13A2c.908-22C>T (n.908-22C>T)
c.893-22C>T (n.893-22C>T)
n.516-22C>T
n.47-22C>T
c.68-22C>T (n.68-22C>T)
c.831-22C>T
c.47-22C>T (n.47-22C>T)
c.905-22C>T (n.905-22C>T)
c.881-22C>T (n.881-22C>T)
c.890-22C>T (n.890-22C>T)
c.866-22C>T (n.866-22C>T)
c.878-22C>T (n.878-22C>T)
 gnomAD v4
1g.17000164G>TCA2643675531ATP13A2c.908-22C>A (n.908-22C>A)
c.893-22C>A (n.893-22C>A)
n.516-22C>A
n.47-22C>A
c.68-22C>A (n.68-22C>A)
c.831-22C>A
c.47-22C>A (n.47-22C>A)
c.905-22C>A (n.905-22C>A)
c.881-22C>A (n.881-22C>A)
c.890-22C>A (n.890-22C>A)
c.866-22C>A (n.866-22C>A)
c.878-22C>A (n.878-22C>A)
 gnomAD v4
1g.17000167C>TCA2643675533ATP13A2c.908-25G>A (n.908-25G>A)
c.893-25G>A (n.893-25G>A)
n.516-25G>A
n.47-25G>A
c.68-25G>A (n.68-25G>A)
c.831-25G>A
c.47-25G>A (n.47-25G>A)
c.905-25G>A (n.905-25G>A)
c.881-25G>A (n.881-25G>A)
c.890-25G>A (n.890-25G>A)
c.866-25G>A (n.866-25G>A)
c.878-25G>A (n.878-25G>A)
 gnomAD v4
1g.17000169G>ACA18641845ATP13A2c.908-27C>T (n.908-27C>T)
c.893-27C>T (n.893-27C>T)
n.516-27C>T
n.47-27C>T
c.68-27C>T (n.68-27C>T)
c.831-27C>T
c.47-27C>T (n.47-27C>T)
c.905-27C>T (n.905-27C>T)
c.881-27C>T (n.881-27C>T)
c.890-27C>T (n.890-27C>T)
c.866-27C>T (n.866-27C>T)
c.878-27C>T (n.878-27C>T)
 dbSNP
1g.17000169G=CA1156038571ATP13A2c.908-27C= (n.908-27C=)
c.893-27C= (n.893-27C=)
n.516-27C=
n.47-27C=
c.68-27C= (n.68-27C=)
c.831-27C=
c.47-27C= (n.47-27C=)
c.905-27C= (n.905-27C=)
c.881-27C= (n.881-27C=)
c.890-27C= (n.890-27C=)
c.866-27C= (n.866-27C=)
c.878-27C= (n.878-27C=)
1g.17000169G>TCA2643675535ATP13A2c.908-27C>A (n.908-27C>A)
c.893-27C>A (n.893-27C>A)
n.516-27C>A
n.47-27C>A
c.68-27C>A (n.68-27C>A)
c.831-27C>A
c.47-27C>A (n.47-27C>A)
c.905-27C>A (n.905-27C>A)
c.881-27C>A (n.881-27C>A)
c.890-27C>A (n.890-27C>A)
c.866-27C>A (n.866-27C>A)
c.878-27C>A (n.878-27C>A)
 gnomAD v4
1g.17000171T>GCA2742637385ATP13A2c.908-29A>C (n.908-29A>C)
c.893-29A>C (n.893-29A>C)
n.516-29A>C
n.47-29A>C
c.68-29A>C (n.68-29A>C)
c.831-29A>C
c.47-29A>C (n.47-29A>C)
c.905-29A>C (n.905-29A>C)
c.881-29A>C (n.881-29A>C)
c.890-29A>C (n.890-29A>C)
c.866-29A>C (n.866-29A>C)
c.878-29A>C (n.878-29A>C)
1g.17000172A>GCA2574235160ATP13A2c.908-30T>C (n.908-30T>C)
c.893-30T>C (n.893-30T>C)
n.516-30T>C
n.47-30T>C
c.68-30T>C (n.68-30T>C)
c.831-30T>C
c.47-30T>C (n.47-30T>C)
c.905-30T>C (n.905-30T>C)
c.881-30T>C (n.881-30T>C)
c.890-30T>C (n.890-30T>C)
c.866-30T>C (n.866-30T>C)
c.878-30T>C (n.878-30T>C)
 gnomAD v4
1g.17000173G>ACA2643675538ATP13A2c.908-31C>T (n.908-31C>T)
c.893-31C>T (n.893-31C>T)
n.516-31C>T
n.47-31C>T
c.68-31C>T (n.68-31C>T)
c.831-31C>T
c.47-31C>T (n.47-31C>T)
c.905-31C>T (n.905-31C>T)
c.881-31C>T (n.881-31C>T)
c.890-31C>T (n.890-31C>T)
c.866-31C>T (n.866-31C>T)
c.878-31C>T (n.878-31C>T)
 gnomAD v4
1g.17000173G>CCA1156038575ATP13A2c.908-31C>G (n.908-31C>G)
c.893-31C>G (n.893-31C>G)
n.516-31C>G
n.47-31C>G
c.68-31C>G (n.68-31C>G)
c.831-31C>G
c.47-31C>G (n.47-31C>G)
c.905-31C>G (n.905-31C>G)
c.881-31C>G (n.881-31C>G)
c.890-31C>G (n.890-31C>G)
c.866-31C>G (n.866-31C>G)
c.878-31C>G (n.878-31C>G)
 dbSNP
1g.17000173G=CA1156038574ATP13A2c.908-31C= (n.908-31C=)
c.893-31C= (n.893-31C=)
n.516-31C=
n.47-31C=
c.68-31C= (n.68-31C=)
c.831-31C=
c.47-31C= (n.47-31C=)
c.905-31C= (n.905-31C=)
c.881-31C= (n.881-31C=)
c.890-31C= (n.890-31C=)
c.866-31C= (n.866-31C=)
c.878-31C= (n.878-31C=)
1g.17000174G>CCA890970753ATP13A2c.908-32C>G (n.908-32C>G)
c.893-32C>G (n.893-32C>G)
n.516-32C>G
n.47-32C>G
c.68-32C>G (n.68-32C>G)
c.831-32C>G
c.47-32C>G (n.47-32C>G)
c.905-32C>G (n.905-32C>G)
c.881-32C>G (n.881-32C>G)
c.890-32C>G (n.890-32C>G)
c.866-32C>G (n.866-32C>G)
c.878-32C>G (n.878-32C>G)
 dbSNP gnomAD v3 gnomAD v4
1g.17000174G=CA1156038578ATP13A2c.908-32C= (n.908-32C=)
c.893-32C= (n.893-32C=)
n.516-32C=
n.47-32C=
c.68-32C= (n.68-32C=)
c.831-32C=
c.47-32C= (n.47-32C=)
c.905-32C= (n.905-32C=)
c.881-32C= (n.881-32C=)
c.890-32C= (n.890-32C=)
c.866-32C= (n.866-32C=)
c.878-32C= (n.878-32C=)
1g.17000176G>ACA18641847ATP13A2c.908-34C>T (n.908-34C>T)
c.893-34C>T (n.893-34C>T)
n.516-34C>T
n.47-34C>T
c.68-34C>T (n.68-34C>T)
c.831-34C>T
c.47-34C>T (n.47-34C>T)
c.905-34C>T (n.905-34C>T)
c.881-34C>T (n.881-34C>T)
c.890-34C>T (n.890-34C>T)
c.866-34C>T (n.866-34C>T)
c.878-34C>T (n.878-34C>T)
 dbSNP gnomAD v3 gnomAD v4
1g.17000176G=CA1156038588ATP13A2c.908-34C= (n.908-34C=)
c.893-34C= (n.893-34C=)
n.516-34C=
n.47-34C=
c.68-34C= (n.68-34C=)
c.831-34C=
c.47-34C= (n.47-34C=)
c.905-34C= (n.905-34C=)
c.881-34C= (n.881-34C=)
c.890-34C= (n.890-34C=)
c.866-34C= (n.866-34C=)
c.878-34C= (n.878-34C=)
1g.17000177G>ACA890970755ATP13A2c.908-35C>T (n.908-35C>T)
c.893-35C>T (n.893-35C>T)
n.516-35C>T
n.47-35C>T
c.68-35C>T (n.68-35C>T)
c.831-35C>T
c.47-35C>T (n.47-35C>T)
c.905-35C>T (n.905-35C>T)
c.881-35C>T (n.881-35C>T)
c.890-35C>T (n.890-35C>T)
c.866-35C>T (n.866-35C>T)
c.878-35C>T (n.878-35C>T)
 dbSNP gnomAD v4
1g.17000177G>CCA637424ATP13A2c.908-35C>G (n.908-35C>G)
c.893-35C>G (n.893-35C>G)
n.516-35C>G
n.47-35C>G
c.68-35C>G (n.68-35C>G)
c.831-35C>G
c.47-35C>G (n.47-35C>G)
c.905-35C>G (n.905-35C>G)
c.881-35C>G (n.881-35C>G)
c.890-35C>G (n.890-35C>G)
c.866-35C>G (n.866-35C>G)
c.878-35C>G (n.878-35C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17000177G=CA1156038592ATP13A2c.908-35C= (n.908-35C=)
c.893-35C= (n.893-35C=)
n.516-35C=
n.47-35C=
c.68-35C= (n.68-35C=)
c.831-35C=
c.47-35C= (n.47-35C=)
c.905-35C= (n.905-35C=)
c.881-35C= (n.881-35C=)
c.890-35C= (n.890-35C=)
c.866-35C= (n.866-35C=)
c.878-35C= (n.878-35C=)
1g.17000178G>ACA18641866ATP13A2c.908-36C>T (n.908-36C>T)
c.893-36C>T (n.893-36C>T)
n.516-36C>T
n.47-36C>T
c.68-36C>T (n.68-36C>T)
c.831-36C>T
c.47-36C>T (n.47-36C>T)
c.905-36C>T (n.905-36C>T)
c.881-36C>T (n.881-36C>T)
c.890-36C>T (n.890-36C>T)
c.866-36C>T (n.866-36C>T)
c.878-36C>T (n.878-36C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.17000178G=CA1156038597ATP13A2c.908-36C= (n.908-36C=)
c.893-36C= (n.893-36C=)
n.516-36C=
n.47-36C=
c.68-36C= (n.68-36C=)
c.831-36C=
c.47-36C= (n.47-36C=)
c.905-36C= (n.905-36C=)
c.881-36C= (n.881-36C=)
c.890-36C= (n.890-36C=)
c.866-36C= (n.866-36C=)
c.878-36C= (n.878-36C=)
1g.17000179G>ACA637425ATP13A2c.908-37C>T (n.908-37C>T)
c.893-37C>T (n.893-37C>T)
n.516-37C>T
n.47-37C>T
c.68-37C>T (n.68-37C>T)
c.831-37C>T
c.47-37C>T (n.47-37C>T)
c.905-37C>T (n.905-37C>T)
c.881-37C>T (n.881-37C>T)
c.890-37C>T (n.890-37C>T)
c.866-37C>T (n.866-37C>T)
c.878-37C>T (n.878-37C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.17000179G=CA1156038607ATP13A2c.908-37C= (n.908-37C=)
c.893-37C= (n.893-37C=)
n.516-37C=
n.47-37C=
c.68-37C= (n.68-37C=)
c.831-37C=
c.47-37C= (n.47-37C=)
c.905-37C= (n.905-37C=)
c.881-37C= (n.881-37C=)
c.890-37C= (n.890-37C=)
c.866-37C= (n.866-37C=)
c.878-37C= (n.878-37C=)
1g.17000179G>TCA2643675544ATP13A2c.908-37C>A (n.908-37C>A)
c.893-37C>A (n.893-37C>A)
n.516-37C>A
n.47-37C>A
c.68-37C>A (n.68-37C>A)
c.831-37C>A
c.47-37C>A (n.47-37C>A)
c.905-37C>A (n.905-37C>A)
c.881-37C>A (n.881-37C>A)
c.890-37C>A (n.890-37C>A)
c.866-37C>A (n.866-37C>A)
c.878-37C>A (n.878-37C>A)
 gnomAD v4
1g.17000180C>ACA637426ATP13A2c.908-38G>T (n.908-38G>T)
c.893-38G>T (n.893-38G>T)
n.516-38G>T
n.47-38G>T
c.68-38G>T (n.68-38G>T)
c.831-38G>T
c.47-38G>T (n.47-38G>T)
c.905-38G>T (n.905-38G>T)
c.881-38G>T (n.881-38G>T)
c.890-38G>T (n.890-38G>T)
c.866-38G>T (n.866-38G>T)
c.878-38G>T (n.878-38G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.17000180C=CA1148722429ATP13A2c.908-38G= (n.908-38G=)
c.893-38G= (n.893-38G=)
n.516-38G=
n.47-38G=
c.68-38G= (n.68-38G=)
c.831-38G=
c.47-38G= (n.47-38G=)
c.905-38G= (n.905-38G=)
c.881-38G= (n.881-38G=)
c.890-38G= (n.890-38G=)
c.866-38G= (n.866-38G=)
c.878-38G= (n.878-38G=)
1g.17000180C>TCA2574235164ATP13A2c.908-38G>A (n.908-38G>A)
c.893-38G>A (n.893-38G>A)
n.516-38G>A
n.47-38G>A
c.68-38G>A (n.68-38G>A)
c.831-38G>A
c.47-38G>A (n.47-38G>A)
c.905-38G>A (n.905-38G>A)
c.881-38G>A (n.881-38G>A)
c.890-38G>A (n.890-38G>A)
c.866-38G>A (n.866-38G>A)
c.878-38G>A (n.878-38G>A)
 gnomAD v4
1g.17000181C=CA1156038610ATP13A2c.908-39G= (n.908-39G=)
c.893-39G= (n.893-39G=)
n.516-39G=
n.47-39G=
c.68-39G= (n.68-39G=)
c.831-39G=
c.47-39G= (n.47-39G=)
c.905-39G= (n.905-39G=)
c.881-39G= (n.881-39G=)
c.890-39G= (n.890-39G=)
c.866-39G= (n.866-39G=)
c.878-39G= (n.878-39G=)
1g.17000181C>GCA2742637386ATP13A2c.908-39G>C (n.908-39G>C)
c.893-39G>C (n.893-39G>C)
n.516-39G>C
n.47-39G>C
c.68-39G>C (n.68-39G>C)
c.831-39G>C
c.47-39G>C (n.47-39G>C)
c.905-39G>C (n.905-39G>C)
c.881-39G>C (n.881-39G>C)
c.890-39G>C (n.890-39G>C)
c.866-39G>C (n.866-39G>C)
c.878-39G>C (n.878-39G>C)
1g.17000181C>TCA890970757ATP13A2c.908-39G>A (n.908-39G>A)
c.893-39G>A (n.893-39G>A)
n.516-39G>A
n.47-39G>A
c.68-39G>A (n.68-39G>A)
c.831-39G>A
c.47-39G>A (n.47-39G>A)
c.905-39G>A (n.905-39G>A)
c.881-39G>A (n.881-39G>A)
c.890-39G>A (n.890-39G>A)
c.866-39G>A (n.866-39G>A)
c.878-39G>A (n.878-39G>A)
 dbSNP
1g.17000182A=CA1156038615ATP13A2c.908-40T= (n.908-40T=)
c.893-40T= (n.893-40T=)
n.516-40T=
n.47-40T=
c.68-40T= (n.68-40T=)
c.831-40T=
c.47-40T= (n.47-40T=)
c.905-40T= (n.905-40T=)
c.881-40T= (n.881-40T=)
c.890-40T= (n.890-40T=)
c.866-40T= (n.866-40T=)
c.878-40T= (n.878-40T=)
1g.17000182A>GCA521449918ATP13A2c.908-40T>C (n.908-40T>C)
c.893-40T>C (n.893-40T>C)
n.516-40T>C
n.47-40T>C
c.68-40T>C (n.68-40T>C)
c.831-40T>C
c.47-40T>C (n.47-40T>C)
c.905-40T>C (n.905-40T>C)
c.881-40T>C (n.881-40T>C)
c.890-40T>C (n.890-40T>C)
c.866-40T>C (n.866-40T>C)
c.878-40T>C (n.878-40T>C)
 dbSNP gnomAD v2 gnomAD v4
1g.17000183G=CA1156038617ATP13A2c.908-41C= (n.908-41C=)
c.893-41C= (n.893-41C=)
n.516-41C=
n.47-41C=
c.68-41C= (n.68-41C=)
c.831-41C=
c.47-41C= (n.47-41C=)
c.905-41C= (n.905-41C=)
c.881-41C= (n.881-41C=)
c.890-41C= (n.890-41C=)
c.866-41C= (n.866-41C=)
c.878-41C= (n.878-41C=)
1g.17000184C>ACA2742637387ATP13A2c.908-42G>T (n.908-42G>T)
c.893-42G>T (n.893-42G>T)
n.516-42G>T
n.47-42G>T
c.68-42G>T (n.68-42G>T)
c.831-42G>T
c.47-42G>T (n.47-42G>T)
c.905-42G>T (n.905-42G>T)
c.881-42G>T (n.881-42G>T)
c.890-42G>T (n.890-42G>T)
c.866-42G>T (n.866-42G>T)
c.878-42G>T (n.878-42G>T)
1g.17000189_17000202dupCA521449919ATP13A2c.907+49_908-42dup (n.907+49_908-42dup)
c.892+49_893-42dup (n.892+49_893-42dup)
n.515+49_516-42dup
n.46+49_47-42dup
c.67+49_68-42dup (n.67+49_68-42dup)
c.830+49_831-42dup
c.46+49_47-42dup (n.46+49_47-42dup)
c.904+49_905-42dup (n.904+49_905-42dup)
c.880+49_881-42dup (n.880+49_881-42dup)
c.889+49_890-42dup (n.889+49_890-42dup)
c.865+49_866-42dup (n.865+49_866-42dup)
c.877+49_878-42dup (n.877+49_878-42dup)
 dbSNP gnomAD v2 gnomAD v4
1g.17000185C>ACA999067071ATP13A2c.908-43G>T (n.908-43G>T)
c.893-43G>T (n.893-43G>T)
n.516-43G>T
n.47-43G>T
c.68-43G>T (n.68-43G>T)
c.831-43G>T
c.47-43G>T (n.47-43G>T)
c.905-43G>T (n.905-43G>T)
c.881-43G>T (n.881-43G>T)
c.890-43G>T (n.890-43G>T)
c.866-43G>T (n.866-43G>T)
c.878-43G>T (n.878-43G>T)
 dbSNP gnomAD v3 gnomAD v4
1g.17000185C=CA1156038623ATP13A2c.908-43G= (n.908-43G=)
c.893-43G= (n.893-43G=)
n.516-43G=
n.47-43G=
c.68-43G= (n.68-43G=)
c.831-43G=
c.47-43G= (n.47-43G=)
c.905-43G= (n.905-43G=)
c.881-43G= (n.881-43G=)
c.890-43G= (n.890-43G=)
c.866-43G= (n.866-43G=)
c.878-43G= (n.878-43G=)
1g.17000186C>ACA2643675551ATP13A2c.908-44G>T (n.908-44G>T)
c.893-44G>T (n.893-44G>T)
n.516-44G>T
n.47-44G>T
c.68-44G>T (n.68-44G>T)
c.831-44G>T
c.47-44G>T (n.47-44G>T)
c.905-44G>T (n.905-44G>T)
c.881-44G>T (n.881-44G>T)
c.890-44G>T (n.890-44G>T)
c.866-44G>T (n.866-44G>T)
c.878-44G>T (n.878-44G>T)
 gnomAD v4
1g.17000188A=CA1156038630ATP13A2c.908-46T= (n.908-46T=)
c.893-46T= (n.893-46T=)
n.516-46T=
n.47-46T=
c.68-46T= (n.68-46T=)
c.831-46T=
c.47-46T= (n.47-46T=)
c.905-46T= (n.905-46T=)
c.881-46T= (n.881-46T=)
c.890-46T= (n.890-46T=)
c.866-46T= (n.866-46T=)
c.878-46T= (n.878-46T=)
1g.17000188A>CCA521449920ATP13A2c.908-46T>G (n.908-46T>G)
c.893-46T>G (n.893-46T>G)
n.516-46T>G
n.47-46T>G
c.68-46T>G (n.68-46T>G)
c.831-46T>G
c.47-46T>G (n.47-46T>G)
c.905-46T>G (n.905-46T>G)
c.881-46T>G (n.881-46T>G)
c.890-46T>G (n.890-46T>G)
c.866-46T>G (n.866-46T>G)
c.878-46T>G (n.878-46T>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.17000188_17000212delinsAGCCATGCCCCCCCACCCTCCCACTCA1156038626ATP13A2c.907+34_908-46delinsAGTGGGAGGGTGGGGGGGCATGGCT (n.907+34_908-46delinsAGTGGGAGGGTGGGGGGGCATGGCT)
c.892+34_893-46delinsAGTGGGAGGGTGGGGGGGCATGGCT (n.892+34_893-46delinsAGTGGGAGGGTGGGGGGGCATGGCT)
n.515+34_516-46delinsAGTGGGAGGGTGGGGGGGCATGGCT
n.46+34_47-46delinsAGTGGGAGGGTGGGGGGGCATGGCT
c.67+34_68-46delinsAGTGGGAGGGTGGGGGGGCATGGCT (n.67+34_68-46delinsAGTGGGAGGGTGGGGGGGCATGGCT)
c.830+34_831-46delinsAGTGGGAGGGTGGGGGGGCATGGCT
c.46+34_47-46delinsAGTGGGAGGGTGGGGGGGCATGGCT (n.46+34_47-46delinsAGTGGGAGGGTGGGGGGGCATGGCT)
c.904+34_905-46delinsAGTGGGAGGGTGGGGGGGCATGGCT (n.904+34_905-46delinsAGTGGGAGGGTGGGGGGGCATGGCT)
c.880+34_881-46delinsAGTGGGAGGGTGGGGGGGCATGGCT (n.880+34_881-46delinsAGTGGGAGGGTGGGGGGGCATGGCT)
c.889+34_890-46delinsAGTGGGAGGGTGGGGGGGCATGGCT (n.889+34_890-46delinsAGTGGGAGGGTGGGGGGGCATGGCT)
c.865+34_866-46delinsAGTGGGAGGGTGGGGGGGCATGGCT (n.865+34_866-46delinsAGTGGGAGGGTGGGGGGGCATGGCT)
c.877+34_878-46delinsAGTGGGAGGGTGGGGGGGCATGGCT (n.877+34_878-46delinsAGTGGGAGGGTGGGGGGGCATGGCT)
1g.17000189G>ACA2643675555ATP13A2c.908-47C>T (n.908-47C>T)
c.893-47C>T (n.893-47C>T)
n.516-47C>T
n.47-47C>T
c.68-47C>T (n.68-47C>T)
c.831-47C>T
c.47-47C>T (n.47-47C>T)
c.905-47C>T (n.905-47C>T)
c.881-47C>T (n.881-47C>T)
c.890-47C>T (n.890-47C>T)
c.866-47C>T (n.866-47C>T)
c.878-47C>T (n.878-47C>T)
 gnomAD v4
1g.17000189G>CCA1156038637ATP13A2c.908-47C>G (n.908-47C>G)
c.893-47C>G (n.893-47C>G)
n.516-47C>G
n.47-47C>G
c.68-47C>G (n.68-47C>G)
c.831-47C>G
c.47-47C>G (n.47-47C>G)
c.905-47C>G (n.905-47C>G)
c.881-47C>G (n.881-47C>G)
c.890-47C>G (n.890-47C>G)
c.866-47C>G (n.866-47C>G)
c.878-47C>G (n.878-47C>G)
 dbSNP gnomAD v4
1g.17000189G=CA1156038635ATP13A2c.908-47C= (n.908-47C=)
c.893-47C= (n.893-47C=)
n.516-47C=
n.47-47C=
c.68-47C= (n.68-47C=)
c.831-47C=
c.47-47C= (n.47-47C=)
c.905-47C= (n.905-47C=)
c.881-47C= (n.881-47C=)
c.890-47C= (n.890-47C=)
c.866-47C= (n.866-47C=)
c.878-47C= (n.878-47C=)
1g.17000189G>TCA2643675554ATP13A2c.908-47C>A (n.908-47C>A)
c.893-47C>A (n.893-47C>A)
n.516-47C>A
n.47-47C>A
c.68-47C>A (n.68-47C>A)
c.831-47C>A
c.47-47C>A (n.47-47C>A)
c.905-47C>A (n.905-47C>A)
c.881-47C>A (n.881-47C>A)
c.890-47C>A (n.890-47C>A)
c.866-47C>A (n.866-47C>A)
c.878-47C>A (n.878-47C>A)
 gnomAD v4
1g.17000189_17000212delCA916119179ATP13A2c.907+34_908-47del (n.907+34_908-47del)
c.892+34_893-47del (n.892+34_893-47del)
n.515+34_516-47del
n.46+34_47-47del
c.67+34_68-47del (n.67+34_68-47del)
c.830+34_831-47del
c.46+34_47-47del (n.46+34_47-47del)
c.904+34_905-47del (n.904+34_905-47del)
c.880+34_881-47del (n.880+34_881-47del)
c.889+34_890-47del (n.889+34_890-47del)
c.865+34_866-47del (n.865+34_866-47del)
c.877+34_878-47del (n.877+34_878-47del)
 dbSNP
1g.17000190C>GCA2643675557ATP13A2c.908-48G>C (n.908-48G>C)
c.893-48G>C (n.893-48G>C)
n.516-48G>C
n.47-48G>C
c.68-48G>C (n.68-48G>C)
c.831-48G>C
c.47-48G>C (n.47-48G>C)
c.905-48G>C (n.905-48G>C)
c.881-48G>C (n.881-48G>C)
c.890-48G>C (n.890-48G>C)
c.866-48G>C (n.866-48G>C)
c.878-48G>C (n.878-48G>C)
 gnomAD v4
1g.17000190C>TCA2643675559ATP13A2c.908-48G>A (n.908-48G>A)
c.893-48G>A (n.893-48G>A)
n.516-48G>A
n.47-48G>A
c.68-48G>A (n.68-48G>A)
c.831-48G>A
c.47-48G>A (n.47-48G>A)
c.905-48G>A (n.905-48G>A)
c.881-48G>A (n.881-48G>A)
c.890-48G>A (n.890-48G>A)
c.866-48G>A (n.866-48G>A)
c.878-48G>A (n.878-48G>A)
 gnomAD v4
1g.17000192A=CA1156038639ATP13A2c.908-50T= (n.908-50T=)
c.893-50T= (n.893-50T=)
n.516-50T=
n.47-50T=
c.68-50T= (n.68-50T=)
c.831-50T=
c.47-50T= (n.47-50T=)
c.905-50T= (n.905-50T=)
c.881-50T= (n.881-50T=)
c.890-50T= (n.890-50T=)
c.866-50T= (n.866-50T=)
c.878-50T= (n.878-50T=)
1g.17000192A>CCA521449922ATP13A2c.908-50T>G (n.908-50T>G)
c.893-50T>G (n.893-50T>G)
n.516-50T>G
n.47-50T>G
c.68-50T>G (n.68-50T>G)
c.831-50T>G
c.47-50T>G (n.47-50T>G)
c.905-50T>G (n.905-50T>G)
c.881-50T>G (n.881-50T>G)
c.890-50T>G (n.890-50T>G)
c.866-50T>G (n.866-50T>G)
c.878-50T>G (n.878-50T>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.17000192A>GCA2643675561ATP13A2c.908-50T>C (n.908-50T>C)
c.893-50T>C (n.893-50T>C)
n.516-50T>C
n.47-50T>C
c.68-50T>C (n.68-50T>C)
c.831-50T>C
c.47-50T>C (n.47-50T>C)
c.905-50T>C (n.905-50T>C)
c.881-50T>C (n.881-50T>C)
c.890-50T>C (n.890-50T>C)
c.866-50T>C (n.866-50T>C)
c.878-50T>C (n.878-50T>C)
 gnomAD v4
1g.17000192A>TCA2643675560ATP13A2c.908-50T>A (n.908-50T>A)
c.893-50T>A (n.893-50T>A)
n.516-50T>A
n.47-50T>A
c.68-50T>A (n.68-50T>A)
c.831-50T>A
c.47-50T>A (n.47-50T>A)
c.905-50T>A (n.905-50T>A)
c.881-50T>A (n.881-50T>A)
c.890-50T>A (n.890-50T>A)
c.866-50T>A (n.866-50T>A)
c.878-50T>A (n.878-50T>A)
 gnomAD v4
1g.17000192dupCA2643675562ATP13A2c.908-50dup (n.908-50dup)
c.893-50dup (n.893-50dup)
n.516-50dup
n.47-50dup
c.68-50dup (n.68-50dup)
c.831-50dup
c.47-50dup (n.47-50dup)
c.905-50dup (n.905-50dup)
c.881-50dup (n.881-50dup)
c.890-50dup (n.890-50dup)
c.866-50dup (n.866-50dup)
c.878-50dup (n.878-50dup)
 gnomAD v4
1g.17000192_17000193insCCA2643675568ATP13A2c.908-51_908-50insG (n.908-51_908-50insG)
c.893-51_893-50insG (n.893-51_893-50insG)
n.516-51_516-50insG
n.47-51_47-50insG
c.68-51_68-50insG (n.68-51_68-50insG)
c.831-51_831-50insG
c.47-51_47-50insG (n.47-51_47-50insG)
c.905-51_905-50insG (n.905-51_905-50insG)
c.881-51_881-50insG (n.881-51_881-50insG)
c.890-51_890-50insG (n.890-51_890-50insG)
c.866-51_866-50insG (n.866-51_866-50insG)
c.878-51_878-50insG (n.878-51_878-50insG)
 gnomAD v4
1g.17000192_17000193insGCA2643675582ATP13A2c.908-51_908-50insC (n.908-51_908-50insC)
c.893-51_893-50insC (n.893-51_893-50insC)
n.516-51_516-50insC
n.47-51_47-50insC
c.68-51_68-50insC (n.68-51_68-50insC)
c.831-51_831-50insC
c.47-51_47-50insC (n.47-51_47-50insC)
c.905-51_905-50insC (n.905-51_905-50insC)
c.881-51_881-50insC (n.881-51_881-50insC)
c.890-51_890-50insC (n.890-51_890-50insC)
c.866-51_866-50insC (n.866-51_866-50insC)
c.878-51_878-50insC (n.878-51_878-50insC)
 gnomAD v4
1g.17000192_17000193insAGCA2643675574ATP13A2c.908-51_908-50insCT (n.908-51_908-50insCT)
c.893-51_893-50insCT (n.893-51_893-50insCT)
n.516-51_516-50insCT
n.47-51_47-50insCT
c.68-51_68-50insCT (n.68-51_68-50insCT)
c.831-51_831-50insCT
c.47-51_47-50insCT (n.47-51_47-50insCT)
c.905-51_905-50insCT (n.905-51_905-50insCT)
c.881-51_881-50insCT (n.881-51_881-50insCT)
c.890-51_890-50insCT (n.890-51_890-50insCT)
c.866-51_866-50insCT (n.866-51_866-50insCT)
c.878-51_878-50insCT (n.878-51_878-50insCT)
 gnomAD v4
1g.17000192_17000193insAGGCA2643675586ATP13A2c.908-51_908-50insCCT (n.908-51_908-50insCCT)
c.893-51_893-50insCCT (n.893-51_893-50insCCT)
n.516-51_516-50insCCT
n.47-51_47-50insCCT
c.68-51_68-50insCCT (n.68-51_68-50insCCT)
c.831-51_831-50insCCT
c.47-51_47-50insCCT (n.47-51_47-50insCCT)
c.905-51_905-50insCCT (n.905-51_905-50insCCT)
c.881-51_881-50insCCT (n.881-51_881-50insCCT)
c.890-51_890-50insCCT (n.890-51_890-50insCCT)
c.866-51_866-50insCCT (n.866-51_866-50insCCT)
c.878-51_878-50insCCT (n.878-51_878-50insCCT)
 gnomAD v4
1g.17000192_17000193insGGGCA2643675581ATP13A2c.908-51_908-50insCCC (n.908-51_908-50insCCC)
c.893-51_893-50insCCC (n.893-51_893-50insCCC)
n.516-51_516-50insCCC
n.47-51_47-50insCCC
c.68-51_68-50insCCC (n.68-51_68-50insCCC)
c.831-51_831-50insCCC
c.47-51_47-50insCCC (n.47-51_47-50insCCC)
c.905-51_905-50insCCC (n.905-51_905-50insCCC)
c.881-51_881-50insCCC (n.881-51_881-50insCCC)
c.890-51_890-50insCCC (n.890-51_890-50insCCC)
c.866-51_866-50insCCC (n.866-51_866-50insCCC)
c.878-51_878-50insCCC (n.878-51_878-50insCCC)
 gnomAD v4
1g.17000192_17000193insAGGGCA2643675583ATP13A2c.908-51_908-50insCCCT (n.908-51_908-50insCCCT)
c.893-51_893-50insCCCT (n.893-51_893-50insCCCT)
n.516-51_516-50insCCCT
n.47-51_47-50insCCCT
c.68-51_68-50insCCCT (n.68-51_68-50insCCCT)
c.831-51_831-50insCCCT
c.47-51_47-50insCCCT (n.47-51_47-50insCCCT)
c.905-51_905-50insCCCT (n.905-51_905-50insCCCT)
c.881-51_881-50insCCCT (n.881-51_881-50insCCCT)
c.890-51_890-50insCCCT (n.890-51_890-50insCCCT)
c.866-51_866-50insCCCT (n.866-51_866-50insCCCT)
c.878-51_878-50insCCCT (n.878-51_878-50insCCCT)
 gnomAD v4
1g.17000192_17000193insGGGGCA2742637388ATP13A2c.908-51_908-50insCCCC (n.908-51_908-50insCCCC)
c.893-51_893-50insCCCC (n.893-51_893-50insCCCC)
n.516-51_516-50insCCCC
n.47-51_47-50insCCCC
c.68-51_68-50insCCCC (n.68-51_68-50insCCCC)
c.831-51_831-50insCCCC
c.47-51_47-50insCCCC (n.47-51_47-50insCCCC)
c.905-51_905-50insCCCC (n.905-51_905-50insCCCC)
c.881-51_881-50insCCCC (n.881-51_881-50insCCCC)
c.890-51_890-50insCCCC (n.890-51_890-50insCCCC)
c.866-51_866-50insCCCC (n.866-51_866-50insCCCC)
c.878-51_878-50insCCCC (n.878-51_878-50insCCCC)
1g.17000193T>ACA2593546160ATP13A2c.908-51A>T (n.908-51A>T)
c.893-51A>T (n.893-51A>T)
n.516-51A>T
n.47-51A>T
c.68-51A>T (n.68-51A>T)
c.831-51A>T
c.47-51A>T (n.47-51A>T)
c.905-51A>T (n.905-51A>T)
c.881-51A>T (n.881-51A>T)
c.890-51A>T (n.890-51A>T)
c.866-51A>T (n.866-51A>T)
c.878-51A>T (n.878-51A>T)
 gnomAD v3 gnomAD v4
1g.17000193T>CCA2643675571ATP13A2c.908-51A>G (n.908-51A>G)
c.893-51A>G (n.893-51A>G)
n.516-51A>G
n.47-51A>G
c.68-51A>G (n.68-51A>G)
c.831-51A>G
c.47-51A>G (n.47-51A>G)
c.905-51A>G (n.905-51A>G)
c.881-51A>G (n.881-51A>G)
c.890-51A>G (n.890-51A>G)
c.866-51A>G (n.866-51A>G)
c.878-51A>G (n.878-51A>G)
 gnomAD v4
1g.17000193T>GCA2643675570ATP13A2c.908-51A>C (n.908-51A>C)
c.893-51A>C (n.893-51A>C)
n.516-51A>C
n.47-51A>C
c.68-51A>C (n.68-51A>C)
c.831-51A>C
c.47-51A>C (n.47-51A>C)
c.905-51A>C (n.905-51A>C)
c.881-51A>C (n.881-51A>C)
c.890-51A>C (n.890-51A>C)
c.866-51A>C (n.866-51A>C)
c.878-51A>C (n.878-51A>C)
 gnomAD v4
1g.17000193T=CA1156038650ATP13A2c.908-51A= (n.908-51A=)
c.893-51A= (n.893-51A=)
n.516-51A=
n.47-51A=
c.68-51A= (n.68-51A=)
c.831-51A=
c.47-51A= (n.47-51A=)
c.905-51A= (n.905-51A=)
c.881-51A= (n.881-51A=)
c.890-51A= (n.890-51A=)
c.866-51A= (n.866-51A=)
c.878-51A= (n.878-51A=)
1g.17000193dupCA521449772ATP13A2c.908-51dup (n.908-51dup)
c.893-51dup (n.893-51dup)
n.516-51dup
n.47-51dup
c.68-51dup (n.68-51dup)
c.831-51dup
c.47-51dup (n.47-51dup)
c.905-51dup (n.905-51dup)
c.881-51dup (n.881-51dup)
c.890-51dup (n.890-51dup)
c.866-51dup (n.866-51dup)
c.878-51dup (n.878-51dup)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.17000193_17000194delCA2643675572ATP13A2c.908-52_908-51del (n.908-52_908-51del)
c.893-52_893-51del (n.893-52_893-51del)
n.516-52_516-51del
n.47-52_47-51del
c.68-52_68-51del (n.68-52_68-51del)
c.831-52_831-51del
c.47-52_47-51del (n.47-52_47-51del)
c.905-52_905-51del (n.905-52_905-51del)
c.881-52_881-51del (n.881-52_881-51del)
c.890-52_890-51del (n.890-52_890-51del)
c.866-52_866-51del (n.866-52_866-51del)
c.878-52_878-51del (n.878-52_878-51del)
 gnomAD v4
1g.17000193_17000194delinsTGCA1156038646ATP13A2c.908-52_908-51delinsCA (n.908-52_908-51delinsCA)
c.893-52_893-51delinsCA (n.893-52_893-51delinsCA)
n.516-52_516-51delinsCA
n.47-52_47-51delinsCA
c.68-52_68-51delinsCA (n.68-52_68-51delinsCA)
c.831-52_831-51delinsCA
c.47-52_47-51delinsCA (n.47-52_47-51delinsCA)
c.905-52_905-51delinsCA (n.905-52_905-51delinsCA)
c.881-52_881-51delinsCA (n.881-52_881-51delinsCA)
c.890-52_890-51delinsCA (n.890-52_890-51delinsCA)
c.866-52_866-51delinsCA (n.866-52_866-51delinsCA)
c.878-52_878-51delinsCA (n.878-52_878-51delinsCA)
1g.17000193_17000194dupCA2643675575ATP13A2c.908-52_908-51dup (n.908-52_908-51dup)
c.893-52_893-51dup (n.893-52_893-51dup)
n.516-52_516-51dup
n.47-52_47-51dup
c.68-52_68-51dup (n.68-52_68-51dup)
c.831-52_831-51dup
c.47-52_47-51dup (n.47-52_47-51dup)
c.905-52_905-51dup (n.905-52_905-51dup)
c.881-52_881-51dup (n.881-52_881-51dup)
c.890-52_890-51dup (n.890-52_890-51dup)
c.866-52_866-51dup (n.866-52_866-51dup)
c.878-52_878-51dup (n.878-52_878-51dup)
 gnomAD v4
1g.17000193_17000194insACA2643675670ATP13A2c.908-52_908-51insT (n.908-52_908-51insT)
c.893-52_893-51insT (n.893-52_893-51insT)
n.516-52_516-51insT
n.47-52_47-51insT
c.68-52_68-51insT (n.68-52_68-51insT)
c.831-52_831-51insT
c.47-52_47-51insT (n.47-52_47-51insT)
c.905-52_905-51insT (n.905-52_905-51insT)
c.881-52_881-51insT (n.881-52_881-51insT)
c.890-52_890-51insT (n.890-52_890-51insT)
c.866-52_866-51insT (n.866-52_866-51insT)
c.878-52_878-51insT (n.878-52_878-51insT)
 gnomAD v4
1g.17000193_17000194insCCA521449775ATP13A2c.908-52_908-51insG (n.908-52_908-51insG)
c.893-52_893-51insG (n.893-52_893-51insG)
n.516-52_516-51insG
n.47-52_47-51insG
c.68-52_68-51insG (n.68-52_68-51insG)
c.831-52_831-51insG
c.47-52_47-51insG (n.47-52_47-51insG)
c.905-52_905-51insG (n.905-52_905-51insG)
c.881-52_881-51insG (n.881-52_881-51insG)
c.890-52_890-51insG (n.890-52_890-51insG)
c.866-52_866-51insG (n.866-52_866-51insG)
c.878-52_878-51insG (n.878-52_878-51insG)
 gnomAD v2 gnomAD v4
1g.17000193_17000194insCCCA2643675680ATP13A2c.908-52_908-51insGG (n.908-52_908-51insGG)
c.893-52_893-51insGG (n.893-52_893-51insGG)
n.516-52_516-51insGG
n.47-52_47-51insGG
c.68-52_68-51insGG (n.68-52_68-51insGG)
c.831-52_831-51insGG
c.47-52_47-51insGG (n.47-52_47-51insGG)
c.905-52_905-51insGG (n.905-52_905-51insGG)
c.881-52_881-51insGG (n.881-52_881-51insGG)
c.890-52_890-51insGG (n.890-52_890-51insGG)
c.866-52_866-51insGG (n.866-52_866-51insGG)
c.878-52_878-51insGG (n.878-52_878-51insGG)
 gnomAD v4
1g.17000193_17000194insTCCA521449776ATP13A2c.908-52_908-51insGA (n.908-52_908-51insGA)
c.893-52_893-51insGA (n.893-52_893-51insGA)
n.516-52_516-51insGA
n.47-52_47-51insGA
c.68-52_68-51insGA (n.68-52_68-51insGA)
c.831-52_831-51insGA
c.47-52_47-51insGA (n.47-52_47-51insGA)
c.905-52_905-51insGA (n.905-52_905-51insGA)
c.881-52_881-51insGA (n.881-52_881-51insGA)
c.890-52_890-51insGA (n.890-52_890-51insGA)
c.866-52_866-51insGA (n.866-52_866-51insGA)
c.878-52_878-51insGA (n.878-52_878-51insGA)
 gnomAD v2 gnomAD v4
1g.17000193_17000194insTGCA999067091ATP13A2c.908-52_908-51insCA (n.908-52_908-51insCA)
c.893-52_893-51insCA (n.893-52_893-51insCA)
n.516-52_516-51insCA
n.47-52_47-51insCA
c.68-52_68-51insCA (n.68-52_68-51insCA)
c.831-52_831-51insCA
c.47-52_47-51insCA (n.47-52_47-51insCA)
c.905-52_905-51insCA (n.905-52_905-51insCA)
c.881-52_881-51insCA (n.881-52_881-51insCA)
c.890-52_890-51insCA (n.890-52_890-51insCA)
c.866-52_866-51insCA (n.866-52_866-51insCA)
c.878-52_878-51insCA (n.878-52_878-51insCA)
 dbSNP gnomAD v3 gnomAD v4
1g.17000193_17000194insCCCCA2643675684ATP13A2c.908-52_908-51insGGG (n.908-52_908-51insGGG)
c.893-52_893-51insGGG (n.893-52_893-51insGGG)
n.516-52_516-51insGGG
n.47-52_47-51insGGG
c.68-52_68-51insGGG (n.68-52_68-51insGGG)
c.831-52_831-51insGGG
c.47-52_47-51insGGG (n.47-52_47-51insGGG)
c.905-52_905-51insGGG (n.905-52_905-51insGGG)
c.881-52_881-51insGGG (n.881-52_881-51insGGG)
c.890-52_890-51insGGG (n.890-52_890-51insGGG)
c.866-52_866-51insGGG (n.866-52_866-51insGGG)
c.878-52_878-51insGGG (n.878-52_878-51insGGG)
 gnomAD v4
1g.17000193_17000194insTCCCA2643675622ATP13A2c.908-52_908-51insGGA (n.908-52_908-51insGGA)
c.893-52_893-51insGGA (n.893-52_893-51insGGA)
n.516-52_516-51insGGA
n.47-52_47-51insGGA
c.68-52_68-51insGGA (n.68-52_68-51insGGA)
c.831-52_831-51insGGA
c.47-52_47-51insGGA (n.47-52_47-51insGGA)
c.905-52_905-51insGGA (n.905-52_905-51insGGA)
c.881-52_881-51insGGA (n.881-52_881-51insGGA)
c.890-52_890-51insGGA (n.890-52_890-51insGGA)
c.866-52_866-51insGGA (n.866-52_866-51insGGA)
c.878-52_878-51insGGA (n.878-52_878-51insGGA)
 gnomAD v4
1g.17000193_17000194insTGCCA2574235187ATP13A2c.908-52_908-51insGCA (n.908-52_908-51insGCA)
c.893-52_893-51insGCA (n.893-52_893-51insGCA)
n.516-52_516-51insGCA
n.47-52_47-51insGCA
c.68-52_68-51insGCA (n.68-52_68-51insGCA)
c.831-52_831-51insGCA
c.47-52_47-51insGCA (n.47-52_47-51insGCA)
c.905-52_905-51insGCA (n.905-52_905-51insGCA)
c.881-52_881-51insGCA (n.881-52_881-51insGCA)
c.890-52_890-51insGCA (n.890-52_890-51insGCA)
c.866-52_866-51insGCA (n.866-52_866-51insGCA)
c.878-52_878-51insGCA (n.878-52_878-51insGCA)
1g.17000193_17000194insTGGCA999067086ATP13A2c.908-52_908-51insCCA (n.908-52_908-51insCCA)
c.893-52_893-51insCCA (n.893-52_893-51insCCA)
n.516-52_516-51insCCA
n.47-52_47-51insCCA
c.68-52_68-51insCCA (n.68-52_68-51insCCA)
c.831-52_831-51insCCA
c.47-52_47-51insCCA (n.47-52_47-51insCCA)
c.905-52_905-51insCCA (n.905-52_905-51insCCA)
c.881-52_881-51insCCA (n.881-52_881-51insCCA)
c.890-52_890-51insCCA (n.890-52_890-51insCCA)
c.866-52_866-51insCCA (n.866-52_866-51insCCA)
c.878-52_878-51insCCA (n.878-52_878-51insCCA)
 gnomAD v3 gnomAD v4
1g.17000193_17000194insTTCCA2643675654ATP13A2c.908-52_908-51insGAA (n.908-52_908-51insGAA)
c.893-52_893-51insGAA (n.893-52_893-51insGAA)
n.516-52_516-51insGAA
n.47-52_47-51insGAA
c.68-52_68-51insGAA (n.68-52_68-51insGAA)
c.831-52_831-51insGAA
c.47-52_47-51insGAA (n.47-52_47-51insGAA)
c.905-52_905-51insGAA (n.905-52_905-51insGAA)
c.881-52_881-51insGAA (n.881-52_881-51insGAA)
c.890-52_890-51insGAA (n.890-52_890-51insGAA)
c.866-52_866-51insGAA (n.866-52_866-51insGAA)
c.878-52_878-51insGAA (n.878-52_878-51insGAA)
 gnomAD v4
1g.17000193_17000194insTGGCCA2643675646ATP13A2c.908-52_908-51insGCCA (n.908-52_908-51insGCCA)
c.893-52_893-51insGCCA (n.893-52_893-51insGCCA)
n.516-52_516-51insGCCA
n.47-52_47-51insGCCA
c.68-52_68-51insGCCA (n.68-52_68-51insGCCA)
c.831-52_831-51insGCCA
c.47-52_47-51insGCCA (n.47-52_47-51insGCCA)
c.905-52_905-51insGCCA (n.905-52_905-51insGCCA)
c.881-52_881-51insGCCA (n.881-52_881-51insGCCA)
c.890-52_890-51insGCCA (n.890-52_890-51insGCCA)
c.866-52_866-51insGCCA (n.866-52_866-51insGCCA)
c.878-52_878-51insGCCA (n.878-52_878-51insGCCA)
 gnomAD v4
1g.17000193_17000194insTGGGCA2574235186ATP13A2c.908-52_908-51insCCCA (n.908-52_908-51insCCCA)
c.893-52_893-51insCCCA (n.893-52_893-51insCCCA)
n.516-52_516-51insCCCA
n.47-52_47-51insCCCA
c.68-52_68-51insCCCA (n.68-52_68-51insCCCA)
c.831-52_831-51insCCCA
c.47-52_47-51insCCCA (n.47-52_47-51insCCCA)
c.905-52_905-51insCCCA (n.905-52_905-51insCCCA)
c.881-52_881-51insCCCA (n.881-52_881-51insCCCA)
c.890-52_890-51insCCCA (n.890-52_890-51insCCCA)
c.866-52_866-51insCCCA (n.866-52_866-51insCCCA)
c.878-52_878-51insCCCA (n.878-52_878-51insCCCA)
 gnomAD v4
1g.17000193_17000194insTTCCCA2643675655ATP13A2c.908-52_908-51insGGAA (n.908-52_908-51insGGAA)
c.893-52_893-51insGGAA (n.893-52_893-51insGGAA)
n.516-52_516-51insGGAA
n.47-52_47-51insGGAA
c.68-52_68-51insGGAA (n.68-52_68-51insGGAA)
c.831-52_831-51insGGAA
c.47-52_47-51insGGAA (n.47-52_47-51insGGAA)
c.905-52_905-51insGGAA (n.905-52_905-51insGGAA)
c.881-52_881-51insGGAA (n.881-52_881-51insGGAA)
c.890-52_890-51insGGAA (n.890-52_890-51insGGAA)
c.866-52_866-51insGGAA (n.866-52_866-51insGGAA)
c.878-52_878-51insGGAA (n.878-52_878-51insGGAA)
 gnomAD v4
1g.17000193_17000194insCCCCCCA2643675685ATP13A2c.908-52_908-51insGGGGG (n.908-52_908-51insGGGGG)
c.893-52_893-51insGGGGG (n.893-52_893-51insGGGGG)
n.516-52_516-51insGGGGG
n.47-52_47-51insGGGGG
c.68-52_68-51insGGGGG (n.68-52_68-51insGGGGG)
c.831-52_831-51insGGGGG
c.47-52_47-51insGGGGG (n.47-52_47-51insGGGGG)
c.905-52_905-51insGGGGG (n.905-52_905-51insGGGGG)
c.881-52_881-51insGGGGG (n.881-52_881-51insGGGGG)
c.890-52_890-51insGGGGG (n.890-52_890-51insGGGGG)
c.866-52_866-51insGGGGG (n.866-52_866-51insGGGGG)
c.878-52_878-51insGGGGG (n.878-52_878-51insGGGGG)
 gnomAD v4
1g.17000193_17000194insTGGGCCA2643675625ATP13A2c.908-52_908-51insGCCCA (n.908-52_908-51insGCCCA)
c.893-52_893-51insGCCCA (n.893-52_893-51insGCCCA)
n.516-52_516-51insGCCCA
n.47-52_47-51insGCCCA
c.68-52_68-51insGCCCA (n.68-52_68-51insGCCCA)
c.831-52_831-51insGCCCA
c.47-52_47-51insGCCCA (n.47-52_47-51insGCCCA)
c.905-52_905-51insGCCCA (n.905-52_905-51insGCCCA)
c.881-52_881-51insGCCCA (n.881-52_881-51insGCCCA)
c.890-52_890-51insGCCCA (n.890-52_890-51insGCCCA)
c.866-52_866-51insGCCCA (n.866-52_866-51insGCCCA)
c.878-52_878-51insGCCCA (n.878-52_878-51insGCCCA)
 gnomAD v4
1g.17000193_17000194insTGGGGCA2574235184ATP13A2c.908-52_908-51insCCCCA (n.908-52_908-51insCCCCA)
c.893-52_893-51insCCCCA (n.893-52_893-51insCCCCA)
n.516-52_516-51insCCCCA
n.47-52_47-51insCCCCA
c.68-52_68-51insCCCCA (n.68-52_68-51insCCCCA)
c.831-52_831-51insCCCCA
c.47-52_47-51insCCCCA (n.47-52_47-51insCCCCA)
c.905-52_905-51insCCCCA (n.905-52_905-51insCCCCA)
c.881-52_881-51insCCCCA (n.881-52_881-51insCCCCA)
c.890-52_890-51insCCCCA (n.890-52_890-51insCCCCA)
c.866-52_866-51insCCCCA (n.866-52_866-51insCCCCA)
c.878-52_878-51insCCCCA (n.878-52_878-51insCCCCA)
 gnomAD v4
1g.17000193_17000194insTTCCCCA2643675658ATP13A2c.908-52_908-51insGGGAA (n.908-52_908-51insGGGAA)
c.893-52_893-51insGGGAA (n.893-52_893-51insGGGAA)
n.516-52_516-51insGGGAA
n.47-52_47-51insGGGAA
c.68-52_68-51insGGGAA (n.68-52_68-51insGGGAA)
c.831-52_831-51insGGGAA
c.47-52_47-51insGGGAA (n.47-52_47-51insGGGAA)
c.905-52_905-51insGGGAA (n.905-52_905-51insGGGAA)
c.881-52_881-51insGGGAA (n.881-52_881-51insGGGAA)
c.890-52_890-51insGGGAA (n.890-52_890-51insGGGAA)
c.866-52_866-51insGGGAA (n.866-52_866-51insGGGAA)
c.878-52_878-51insGGGAA (n.878-52_878-51insGGGAA)
 gnomAD v4
1g.17000193_17000194insTCCCCCCA2643675635ATP13A2c.908-52_908-51insGGGGGA (n.908-52_908-51insGGGGGA)
c.893-52_893-51insGGGGGA (n.893-52_893-51insGGGGGA)
n.516-52_516-51insGGGGGA
n.47-52_47-51insGGGGGA
c.68-52_68-51insGGGGGA (n.68-52_68-51insGGGGGA)
c.831-52_831-51insGGGGGA
c.47-52_47-51insGGGGGA (n.47-52_47-51insGGGGGA)
c.905-52_905-51insGGGGGA (n.905-52_905-51insGGGGGA)
c.881-52_881-51insGGGGGA (n.881-52_881-51insGGGGGA)
c.890-52_890-51insGGGGGA (n.890-52_890-51insGGGGGA)
c.866-52_866-51insGGGGGA (n.866-52_866-51insGGGGGA)
c.878-52_878-51insGGGGGA (n.878-52_878-51insGGGGGA)
 gnomAD v4
1g.17000193_17000194insTGGGCCCA2643675624ATP13A2c.908-52_908-51insGGCCCA (n.908-52_908-51insGGCCCA)
c.893-52_893-51insGGCCCA (n.893-52_893-51insGGCCCA)
n.516-52_516-51insGGCCCA
n.47-52_47-51insGGCCCA
c.68-52_68-51insGGCCCA (n.68-52_68-51insGGCCCA)
c.831-52_831-51insGGCCCA
c.47-52_47-51insGGCCCA (n.47-52_47-51insGGCCCA)
c.905-52_905-51insGGCCCA (n.905-52_905-51insGGCCCA)
c.881-52_881-51insGGCCCA (n.881-52_881-51insGGCCCA)
c.890-52_890-51insGGCCCA (n.890-52_890-51insGGCCCA)
c.866-52_866-51insGGCCCA (n.866-52_866-51insGGCCCA)
c.878-52_878-51insGGCCCA (n.878-52_878-51insGGCCCA)
 gnomAD v4
1g.17000193_17000194insTGGGGGCA2643675651ATP13A2c.908-52_908-51insCCCCCA (n.908-52_908-51insCCCCCA)
c.893-52_893-51insCCCCCA (n.893-52_893-51insCCCCCA)
n.516-52_516-51insCCCCCA
n.47-52_47-51insCCCCCA
c.68-52_68-51insCCCCCA (n.68-52_68-51insCCCCCA)
c.831-52_831-51insCCCCCA
c.47-52_47-51insCCCCCA (n.47-52_47-51insCCCCCA)
c.905-52_905-51insCCCCCA (n.905-52_905-51insCCCCCA)
c.881-52_881-51insCCCCCA (n.881-52_881-51insCCCCCA)
c.890-52_890-51insCCCCCA (n.890-52_890-51insCCCCCA)
c.866-52_866-51insCCCCCA (n.866-52_866-51insCCCCCA)
c.878-52_878-51insCCCCCA (n.878-52_878-51insCCCCCA)
 gnomAD v4
1g.17000193_17000194insTTCCCCCA2643675659ATP13A2c.908-52_908-51insGGGGAA (n.908-52_908-51insGGGGAA)
c.893-52_893-51insGGGGAA (n.893-52_893-51insGGGGAA)
n.516-52_516-51insGGGGAA
n.47-52_47-51insGGGGAA
c.68-52_68-51insGGGGAA (n.68-52_68-51insGGGGAA)
c.831-52_831-51insGGGGAA
c.47-52_47-51insGGGGAA (n.47-52_47-51insGGGGAA)
c.905-52_905-51insGGGGAA (n.905-52_905-51insGGGGAA)
c.881-52_881-51insGGGGAA (n.881-52_881-51insGGGGAA)
c.890-52_890-51insGGGGAA (n.890-52_890-51insGGGGAA)
c.866-52_866-51insGGGGAA (n.866-52_866-51insGGGGAA)
c.878-52_878-51insGGGGAA (n.878-52_878-51insGGGGAA)
 gnomAD v4
1g.17000193_17000194insTGGGGGGCA2643675653ATP13A2c.908-52_908-51insCCCCCCA (n.908-52_908-51insCCCCCCA)
c.893-52_893-51insCCCCCCA (n.893-52_893-51insCCCCCCA)
n.516-52_516-51insCCCCCCA
n.47-52_47-51insCCCCCCA
c.68-52_68-51insCCCCCCA (n.68-52_68-51insCCCCCCA)
c.831-52_831-51insCCCCCCA
c.47-52_47-51insCCCCCCA (n.47-52_47-51insCCCCCCA)
c.905-52_905-51insCCCCCCA (n.905-52_905-51insCCCCCCA)
c.881-52_881-51insCCCCCCA (n.881-52_881-51insCCCCCCA)
c.890-52_890-51insCCCCCCA (n.890-52_890-51insCCCCCCA)
c.866-52_866-51insCCCCCCA (n.866-52_866-51insCCCCCCA)
c.878-52_878-51insCCCCCCA (n.878-52_878-51insCCCCCCA)
 gnomAD v4
1g.17000193_17000194insTCCCCCCCCA2643675632ATP13A2c.908-52_908-51insGGGGGGGA (n.908-52_908-51insGGGGGGGA)
c.893-52_893-51insGGGGGGGA (n.893-52_893-51insGGGGGGGA)
n.516-52_516-51insGGGGGGGA
n.47-52_47-51insGGGGGGGA
c.68-52_68-51insGGGGGGGA (n.68-52_68-51insGGGGGGGA)
c.831-52_831-51insGGGGGGGA
c.47-52_47-51insGGGGGGGA (n.47-52_47-51insGGGGGGGA)
c.905-52_905-51insGGGGGGGA (n.905-52_905-51insGGGGGGGA)
c.881-52_881-51insGGGGGGGA (n.881-52_881-51insGGGGGGGA)
c.890-52_890-51insGGGGGGGA (n.890-52_890-51insGGGGGGGA)
c.866-52_866-51insGGGGGGGA (n.866-52_866-51insGGGGGGGA)
c.878-52_878-51insGGGGGGGA (n.878-52_878-51insGGGGGGGA)
 gnomAD v4
1g.17000194delCA521449774ATP13A2c.908-52del (n.908-52del)
c.893-52del (n.893-52del)
n.516-52del
n.47-52del
c.68-52del (n.68-52del)
c.831-52del
c.47-52del (n.47-52del)
c.905-52del (n.905-52del)
c.881-52del (n.881-52del)
c.890-52del (n.890-52del)
c.866-52del (n.866-52del)
c.878-52del (n.878-52del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.17000194G>ACA2643675663ATP13A2c.908-52C>T (n.908-52C>T)
c.893-52C>T (n.893-52C>T)
n.516-52C>T
n.47-52C>T
c.68-52C>T (n.68-52C>T)
c.831-52C>T
c.47-52C>T (n.47-52C>T)
c.905-52C>T (n.905-52C>T)
c.881-52C>T (n.881-52C>T)
c.890-52C>T (n.890-52C>T)
c.866-52C>T (n.866-52C>T)
c.878-52C>T (n.878-52C>T)
 gnomAD v4
1g.17000194G>CCA999067085ATP13A2c.908-52C>G (n.908-52C>G)
c.893-52C>G (n.893-52C>G)
n.516-52C>G
n.47-52C>G
c.68-52C>G (n.68-52C>G)
c.831-52C>G
c.47-52C>G (n.47-52C>G)
c.905-52C>G (n.905-52C>G)
c.881-52C>G (n.881-52C>G)
c.890-52C>G (n.890-52C>G)
c.866-52C>G (n.866-52C>G)
c.878-52C>G (n.878-52C>G)
 gnomAD v3 gnomAD v4
1g.17000194G=CA1156038670ATP13A2c.908-52C= (n.908-52C=)
c.893-52C= (n.893-52C=)
n.516-52C=
n.47-52C=
c.68-52C= (n.68-52C=)
c.831-52C=
c.47-52C= (n.47-52C=)
c.905-52C= (n.905-52C=)
c.881-52C= (n.881-52C=)
c.890-52C= (n.890-52C=)
c.866-52C= (n.866-52C=)
c.878-52C= (n.878-52C=)
1g.17000194G>TCA999067084ATP13A2c.908-52C>A (n.908-52C>A)
c.893-52C>A (n.893-52C>A)
n.516-52C>A
n.47-52C>A
c.68-52C>A (n.68-52C>A)
c.831-52C>A
c.47-52C>A (n.47-52C>A)
c.905-52C>A (n.905-52C>A)
c.881-52C>A (n.881-52C>A)
c.890-52C>A (n.890-52C>A)
c.866-52C>A (n.866-52C>A)
c.878-52C>A (n.878-52C>A)
 dbSNP gnomAD v3 gnomAD v4
1g.17000194_17000195insGGCA999067094ATP13A2c.908-52_908-51insCC (n.908-52_908-51insCC)
c.893-52_893-51insCC (n.893-52_893-51insCC)
n.516-52_516-51insCC
n.47-52_47-51insCC
c.68-52_68-51insCC (n.68-52_68-51insCC)
c.831-52_831-51insCC
c.47-52_47-51insCC (n.47-52_47-51insCC)
c.905-52_905-51insCC (n.905-52_905-51insCC)
c.881-52_881-51insCC (n.881-52_881-51insCC)
c.890-52_890-51insCC (n.890-52_890-51insCC)
c.866-52_866-51insCC (n.866-52_866-51insCC)
c.878-52_878-51insCC (n.878-52_878-51insCC)
 dbSNP gnomAD v3 gnomAD v4
1g.17000194_17000195insGCGCA2574235200ATP13A2c.908-52_908-51insGCC (n.908-52_908-51insGCC)
c.893-52_893-51insGCC (n.893-52_893-51insGCC)
n.516-52_516-51insGCC
n.47-52_47-51insGCC
c.68-52_68-51insGCC (n.68-52_68-51insGCC)
c.831-52_831-51insGCC
c.47-52_47-51insGCC (n.47-52_47-51insGCC)
c.905-52_905-51insGCC (n.905-52_905-51insGCC)
c.881-52_881-51insGCC (n.881-52_881-51insGCC)
c.890-52_890-51insGCC (n.890-52_890-51insGCC)
c.866-52_866-51insGCC (n.866-52_866-51insGCC)
c.878-52_878-51insGCC (n.878-52_878-51insGCC)
1g.17000194_17000195insGGGCA999067082ATP13A2c.908-52_908-51insCCC (n.908-52_908-51insCCC)
c.893-52_893-51insCCC (n.893-52_893-51insCCC)
n.516-52_516-51insCCC
n.47-52_47-51insCCC
c.68-52_68-51insCCC (n.68-52_68-51insCCC)
c.831-52_831-51insCCC
c.47-52_47-51insCCC (n.47-52_47-51insCCC)
c.905-52_905-51insCCC (n.905-52_905-51insCCC)
c.881-52_881-51insCCC (n.881-52_881-51insCCC)
c.890-52_890-51insCCC (n.890-52_890-51insCCC)
c.866-52_866-51insCCC (n.866-52_866-51insCCC)
c.878-52_878-51insCCC (n.878-52_878-51insCCC)
 dbSNP gnomAD v3 gnomAD v4
1g.17000194_17000195insGGCGCA2574235197ATP13A2c.908-52_908-51insGCCC (n.908-52_908-51insGCCC)
c.893-52_893-51insGCCC (n.893-52_893-51insGCCC)
n.516-52_516-51insGCCC
n.47-52_47-51insGCCC
c.68-52_68-51insGCCC (n.68-52_68-51insGCCC)
c.831-52_831-51insGCCC
c.47-52_47-51insGCCC (n.47-52_47-51insGCCC)
c.905-52_905-51insGCCC (n.905-52_905-51insGCCC)
c.881-52_881-51insGCCC (n.881-52_881-51insGCCC)
c.890-52_890-51insGCCC (n.890-52_890-51insGCCC)
c.866-52_866-51insGCCC (n.866-52_866-51insGCCC)
c.878-52_878-51insGCCC (n.878-52_878-51insGCCC)
 gnomAD v4
1g.17000194_17000195insGGGGCA999067087ATP13A2c.908-52_908-51insCCCC (n.908-52_908-51insCCCC)
c.893-52_893-51insCCCC (n.893-52_893-51insCCCC)
n.516-52_516-51insCCCC
n.47-52_47-51insCCCC
c.68-52_68-51insCCCC (n.68-52_68-51insCCCC)
c.831-52_831-51insCCCC
c.47-52_47-51insCCCC (n.47-52_47-51insCCCC)
c.905-52_905-51insCCCC (n.905-52_905-51insCCCC)
c.881-52_881-51insCCCC (n.881-52_881-51insCCCC)
c.890-52_890-51insCCCC (n.890-52_890-51insCCCC)
c.866-52_866-51insCCCC (n.866-52_866-51insCCCC)
c.878-52_878-51insCCCC (n.878-52_878-51insCCCC)
 dbSNP gnomAD v3 gnomAD v4
1g.17000194_17000195insGGGCGCA2574235193ATP13A2c.908-52_908-51insGCCCC (n.908-52_908-51insGCCCC)
c.893-52_893-51insGCCCC (n.893-52_893-51insGCCCC)
n.516-52_516-51insGCCCC
n.47-52_47-51insGCCCC
c.68-52_68-51insGCCCC (n.68-52_68-51insGCCCC)
c.831-52_831-51insGCCCC
c.47-52_47-51insGCCCC (n.47-52_47-51insGCCCC)
c.905-52_905-51insGCCCC (n.905-52_905-51insGCCCC)
c.881-52_881-51insGCCCC (n.881-52_881-51insGCCCC)
c.890-52_890-51insGCCCC (n.890-52_890-51insGCCCC)
c.866-52_866-51insGCCCC (n.866-52_866-51insGCCCC)
c.878-52_878-51insGCCCC (n.878-52_878-51insGCCCC)
 gnomAD v4
1g.17000194_17000195insGGGGGCA2574235188ATP13A2c.908-52_908-51insCCCCC (n.908-52_908-51insCCCCC)
c.893-52_893-51insCCCCC (n.893-52_893-51insCCCCC)
n.516-52_516-51insCCCCC
n.47-52_47-51insCCCCC
c.68-52_68-51insCCCCC (n.68-52_68-51insCCCCC)
c.831-52_831-51insCCCCC
c.47-52_47-51insCCCCC (n.47-52_47-51insCCCCC)
c.905-52_905-51insCCCCC (n.905-52_905-51insCCCCC)
c.881-52_881-51insCCCCC (n.881-52_881-51insCCCCC)
c.890-52_890-51insCCCCC (n.890-52_890-51insCCCCC)
c.866-52_866-51insCCCCC (n.866-52_866-51insCCCCC)
c.878-52_878-51insCCCCC (n.878-52_878-51insCCCCC)
 gnomAD v4
1g.17000194_17000195insGGGGCGCA2643675698ATP13A2c.908-52_908-51insGCCCCC (n.908-52_908-51insGCCCCC)
c.893-52_893-51insGCCCCC (n.893-52_893-51insGCCCCC)
n.516-52_516-51insGCCCCC
n.47-52_47-51insGCCCCC
c.68-52_68-51insGCCCCC (n.68-52_68-51insGCCCCC)
c.831-52_831-51insGCCCCC
c.47-52_47-51insGCCCCC (n.47-52_47-51insGCCCCC)
c.905-52_905-51insGCCCCC (n.905-52_905-51insGCCCCC)
c.881-52_881-51insGCCCCC (n.881-52_881-51insGCCCCC)
c.890-52_890-51insGCCCCC (n.890-52_890-51insGCCCCC)
c.866-52_866-51insGCCCCC (n.866-52_866-51insGCCCCC)
c.878-52_878-51insGCCCCC (n.878-52_878-51insGCCCCC)
 gnomAD v4
1g.17000194_17000195insGGGGGGCA2643675695ATP13A2c.908-52_908-51insCCCCCC (n.908-52_908-51insCCCCCC)
c.893-52_893-51insCCCCCC (n.893-52_893-51insCCCCCC)
n.516-52_516-51insCCCCCC
n.47-52_47-51insCCCCCC
c.68-52_68-51insCCCCCC (n.68-52_68-51insCCCCCC)
c.831-52_831-51insCCCCCC
c.47-52_47-51insCCCCCC (n.47-52_47-51insCCCCCC)
c.905-52_905-51insCCCCCC (n.905-52_905-51insCCCCCC)
c.881-52_881-51insCCCCCC (n.881-52_881-51insCCCCCC)
c.890-52_890-51insCCCCCC (n.890-52_890-51insCCCCCC)
c.866-52_866-51insCCCCCC (n.866-52_866-51insCCCCCC)
c.878-52_878-51insCCCCCC (n.878-52_878-51insCCCCCC)
 gnomAD v4
1g.17000194_17000195insGGGGGCGCA2643675694ATP13A2c.908-52_908-51insGCCCCCC (n.908-52_908-51insGCCCCCC)
c.893-52_893-51insGCCCCCC (n.893-52_893-51insGCCCCCC)
n.516-52_516-51insGCCCCCC
n.47-52_47-51insGCCCCCC
c.68-52_68-51insGCCCCCC (n.68-52_68-51insGCCCCCC)
c.831-52_831-51insGCCCCCC
c.47-52_47-51insGCCCCCC (n.47-52_47-51insGCCCCCC)
c.905-52_905-51insGCCCCCC (n.905-52_905-51insGCCCCCC)
c.881-52_881-51insGCCCCCC (n.881-52_881-51insGCCCCCC)
c.890-52_890-51insGCCCCCC (n.890-52_890-51insGCCCCCC)
c.866-52_866-51insGCCCCCC (n.866-52_866-51insGCCCCCC)
c.878-52_878-51insGCCCCCC (n.878-52_878-51insGCCCCCC)
 gnomAD v4
1g.17000194_17000195insGGGGGGGCA2643675692ATP13A2c.908-52_908-51insCCCCCCC (n.908-52_908-51insCCCCCCC)
c.893-52_893-51insCCCCCCC (n.893-52_893-51insCCCCCCC)
n.516-52_516-51insCCCCCCC
n.47-52_47-51insCCCCCCC
c.68-52_68-51insCCCCCCC (n.68-52_68-51insCCCCCCC)
c.831-52_831-51insCCCCCCC
c.47-52_47-51insCCCCCCC (n.47-52_47-51insCCCCCCC)
c.905-52_905-51insCCCCCCC (n.905-52_905-51insCCCCCCC)
c.881-52_881-51insCCCCCCC (n.881-52_881-51insCCCCCCC)
c.890-52_890-51insCCCCCCC (n.890-52_890-51insCCCCCCC)
c.866-52_866-51insCCCCCCC (n.866-52_866-51insCCCCCCC)
c.878-52_878-51insCCCCCCC (n.878-52_878-51insCCCCCCC)
 gnomAD v4
1g.17000194_17000195insGGGGCCCGCA2643675697ATP13A2c.908-52_908-51insGGGCCCCC (n.908-52_908-51insGGGCCCCC)
c.893-52_893-51insGGGCCCCC (n.893-52_893-51insGGGCCCCC)
n.516-52_516-51insGGGCCCCC
n.47-52_47-51insGGGCCCCC
c.68-52_68-51insGGGCCCCC (n.68-52_68-51insGGGCCCCC)
c.831-52_831-51insGGGCCCCC
c.47-52_47-51insGGGCCCCC (n.47-52_47-51insGGGCCCCC)
c.905-52_905-51insGGGCCCCC (n.905-52_905-51insGGGCCCCC)
c.881-52_881-51insGGGCCCCC (n.881-52_881-51insGGGCCCCC)
c.890-52_890-51insGGGCCCCC (n.890-52_890-51insGGGCCCCC)
c.866-52_866-51insGGGCCCCC (n.866-52_866-51insGGGCCCCC)
c.878-52_878-51insGGGCCCCC (n.878-52_878-51insGGGCCCCC)
 gnomAD v4
1g.17000194_17000195insGGGGGCCGCA2643675693ATP13A2c.908-52_908-51insGGCCCCCC (n.908-52_908-51insGGCCCCCC)
c.893-52_893-51insGGCCCCCC (n.893-52_893-51insGGCCCCCC)
n.516-52_516-51insGGCCCCCC
n.47-52_47-51insGGCCCCCC
c.68-52_68-51insGGCCCCCC (n.68-52_68-51insGGCCCCCC)
c.831-52_831-51insGGCCCCCC
c.47-52_47-51insGGCCCCCC (n.47-52_47-51insGGCCCCCC)
c.905-52_905-51insGGCCCCCC (n.905-52_905-51insGGCCCCCC)
c.881-52_881-51insGGCCCCCC (n.881-52_881-51insGGCCCCCC)
c.890-52_890-51insGGCCCCCC (n.890-52_890-51insGGCCCCCC)
c.866-52_866-51insGGCCCCCC (n.866-52_866-51insGGCCCCCC)
c.878-52_878-51insGGCCCCCC (n.878-52_878-51insGGCCCCCC)
 gnomAD v4
1g.17000194_17000195insGGGGGGCGCA2643675667ATP13A2c.908-52_908-51insGCCCCCCC (n.908-52_908-51insGCCCCCCC)
c.893-52_893-51insGCCCCCCC (n.893-52_893-51insGCCCCCCC)
n.516-52_516-51insGCCCCCCC
n.47-52_47-51insGCCCCCCC
c.68-52_68-51insGCCCCCCC (n.68-52_68-51insGCCCCCCC)
c.831-52_831-51insGCCCCCCC
c.47-52_47-51insGCCCCCCC (n.47-52_47-51insGCCCCCCC)
c.905-52_905-51insGCCCCCCC (n.905-52_905-51insGCCCCCCC)
c.881-52_881-51insGCCCCCCC (n.881-52_881-51insGCCCCCCC)
c.890-52_890-51insGCCCCCCC (n.890-52_890-51insGCCCCCCC)
c.866-52_866-51insGCCCCCCC (n.866-52_866-51insGCCCCCCC)
c.878-52_878-51insGCCCCCCC (n.878-52_878-51insGCCCCCCC)
 gnomAD v4
1g.17000194_17000195insGGGGGGGGCA2643675696ATP13A2c.908-52_908-51insCCCCCCCC (n.908-52_908-51insCCCCCCCC)
c.893-52_893-51insCCCCCCCC (n.893-52_893-51insCCCCCCCC)
n.516-52_516-51insCCCCCCCC
n.47-52_47-51insCCCCCCCC
c.68-52_68-51insCCCCCCCC (n.68-52_68-51insCCCCCCCC)
c.831-52_831-51insCCCCCCCC
c.47-52_47-51insCCCCCCCC (n.47-52_47-51insCCCCCCCC)
c.905-52_905-51insCCCCCCCC (n.905-52_905-51insCCCCCCCC)
c.881-52_881-51insCCCCCCCC (n.881-52_881-51insCCCCCCCC)
c.890-52_890-51insCCCCCCCC (n.890-52_890-51insCCCCCCCC)
c.866-52_866-51insCCCCCCCC (n.866-52_866-51insCCCCCCCC)
c.878-52_878-51insCCCCCCCC (n.878-52_878-51insCCCCCCCC)
 gnomAD v4
1g.17000194dupCA521449773ATP13A2c.908-52dup (n.908-52dup)
c.893-52dup (n.893-52dup)
n.516-52dup
n.47-52dup
c.68-52dup (n.68-52dup)
c.831-52dup
c.47-52dup (n.47-52dup)
c.905-52dup (n.905-52dup)
c.881-52dup (n.881-52dup)
c.890-52dup (n.890-52dup)
c.866-52dup (n.866-52dup)
c.878-52dup (n.878-52dup)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.17000194_17000195delinsGCCA1156038665ATP13A2c.907+51_908-52delinsGC (n.907+51_908-52delinsGC)
c.892+51_893-52delinsGC (n.892+51_893-52delinsGC)
n.515+51_516-52delinsGC
n.46+51_47-52delinsGC
c.67+51_68-52delinsGC (n.67+51_68-52delinsGC)
c.830+51_831-52delinsGC
c.46+51_47-52delinsGC (n.46+51_47-52delinsGC)
c.904+51_905-52delinsGC (n.904+51_905-52delinsGC)
c.880+51_881-52delinsGC (n.880+51_881-52delinsGC)
c.889+51_890-52delinsGC (n.889+51_890-52delinsGC)
c.865+51_866-52delinsGC (n.865+51_866-52delinsGC)
c.877+51_878-52delinsGC (n.877+51_878-52delinsGC)
1g.17000194_17000195dupCA2643675688ATP13A2c.907+51_908-52dup (n.907+51_908-52dup)
c.892+51_893-52dup (n.892+51_893-52dup)
n.515+51_516-52dup
n.46+51_47-52dup
c.67+51_68-52dup (n.67+51_68-52dup)
c.830+51_831-52dup
c.46+51_47-52dup (n.46+51_47-52dup)
c.904+51_905-52dup (n.904+51_905-52dup)
c.880+51_881-52dup (n.880+51_881-52dup)
c.889+51_890-52dup (n.889+51_890-52dup)
c.865+51_866-52dup (n.865+51_866-52dup)
c.877+51_878-52dup (n.877+51_878-52dup)
 gnomAD v4
1g.17000194_17000195insACA2643676351ATP13A2c.907+51_908-52insT (n.907+51_908-52insT)
c.892+51_893-52insT (n.892+51_893-52insT)
n.515+51_516-52insT
n.46+51_47-52insT
c.67+51_68-52insT (n.67+51_68-52insT)
c.830+51_831-52insT
c.46+51_47-52insT (n.46+51_47-52insT)
c.904+51_905-52insT (n.904+51_905-52insT)
c.880+51_881-52insT (n.880+51_881-52insT)
c.889+51_890-52insT (n.889+51_890-52insT)
c.865+51_866-52insT (n.865+51_866-52insT)
c.877+51_878-52insT (n.877+51_878-52insT)
 gnomAD v4
1g.17000194_17000195insTCA2643676110ATP13A2c.907+51_908-52insA (n.907+51_908-52insA)
c.892+51_893-52insA (n.892+51_893-52insA)
n.515+51_516-52insA
n.46+51_47-52insA
c.67+51_68-52insA (n.67+51_68-52insA)
c.830+51_831-52insA
c.46+51_47-52insA (n.46+51_47-52insA)
c.904+51_905-52insA (n.904+51_905-52insA)
c.880+51_881-52insA (n.880+51_881-52insA)
c.889+51_890-52insA (n.889+51_890-52insA)
c.865+51_866-52insA (n.865+51_866-52insA)
c.877+51_878-52insA (n.877+51_878-52insA)
 gnomAD v4
1g.17000194_17000195insACCA2643676353ATP13A2c.907+51_908-52insGT (n.907+51_908-52insGT)
c.892+51_893-52insGT (n.892+51_893-52insGT)
n.515+51_516-52insGT
n.46+51_47-52insGT
c.67+51_68-52insGT (n.67+51_68-52insGT)
c.830+51_831-52insGT
c.46+51_47-52insGT (n.46+51_47-52insGT)
c.904+51_905-52insGT (n.904+51_905-52insGT)
c.880+51_881-52insGT (n.880+51_881-52insGT)
c.889+51_890-52insGT (n.889+51_890-52insGT)
c.865+51_866-52insGT (n.865+51_866-52insGT)
c.877+51_878-52insGT (n.877+51_878-52insGT)
 gnomAD v4
1g.17000194_17000195insGCCA521449777ATP13A2c.907+51_908-52insGC (n.907+51_908-52insGC)
c.892+51_893-52insGC (n.892+51_893-52insGC)
n.515+51_516-52insGC
n.46+51_47-52insGC
c.67+51_68-52insGC (n.67+51_68-52insGC)
c.830+51_831-52insGC
c.46+51_47-52insGC (n.46+51_47-52insGC)
c.904+51_905-52insGC (n.904+51_905-52insGC)
c.880+51_881-52insGC (n.880+51_881-52insGC)
c.889+51_890-52insGC (n.889+51_890-52insGC)
c.865+51_866-52insGC (n.865+51_866-52insGC)
c.877+51_878-52insGC (n.877+51_878-52insGC)
 gnomAD v2 gnomAD v3 gnomAD v4
1g.17000194_17000195insTCCA2643676114ATP13A2c.907+51_908-52insGA (n.907+51_908-52insGA)
c.892+51_893-52insGA (n.892+51_893-52insGA)
n.515+51_516-52insGA
n.46+51_47-52insGA
c.67+51_68-52insGA (n.67+51_68-52insGA)
c.830+51_831-52insGA
c.46+51_47-52insGA (n.46+51_47-52insGA)
c.904+51_905-52insGA (n.904+51_905-52insGA)
c.880+51_881-52insGA (n.880+51_881-52insGA)
c.889+51_890-52insGA (n.889+51_890-52insGA)
c.865+51_866-52insGA (n.865+51_866-52insGA)
c.877+51_878-52insGA (n.877+51_878-52insGA)
 gnomAD v4
1g.17000194_17000195insACCCA2643676356ATP13A2c.907+51_908-52insGGT (n.907+51_908-52insGGT)
c.892+51_893-52insGGT (n.892+51_893-52insGGT)
n.515+51_516-52insGGT
n.46+51_47-52insGGT
c.67+51_68-52insGGT (n.67+51_68-52insGGT)
c.830+51_831-52insGGT
c.46+51_47-52insGGT (n.46+51_47-52insGGT)
c.904+51_905-52insGGT (n.904+51_905-52insGGT)
c.880+51_881-52insGGT (n.880+51_881-52insGGT)
c.889+51_890-52insGGT (n.889+51_890-52insGGT)
c.865+51_866-52insGGT (n.865+51_866-52insGGT)
c.877+51_878-52insGGT (n.877+51_878-52insGGT)
 gnomAD v4
1g.17000194_17000195insGACCA2574235264ATP13A2c.907+51_908-52insGTC (n.907+51_908-52insGTC)
c.892+51_893-52insGTC (n.892+51_893-52insGTC)
n.515+51_516-52insGTC
n.46+51_47-52insGTC
c.67+51_68-52insGTC (n.67+51_68-52insGTC)
c.830+51_831-52insGTC
c.46+51_47-52insGTC (n.46+51_47-52insGTC)
c.904+51_905-52insGTC (n.904+51_905-52insGTC)
c.880+51_881-52insGTC (n.880+51_881-52insGTC)
c.889+51_890-52insGTC (n.889+51_890-52insGTC)
c.865+51_866-52insGTC (n.865+51_866-52insGTC)
c.877+51_878-52insGTC (n.877+51_878-52insGTC)
1g.17000194_17000195insGCCCA521449778ATP13A2c.907+51_908-52insGGC (n.907+51_908-52insGGC)
c.892+51_893-52insGGC (n.892+51_893-52insGGC)
n.515+51_516-52insGGC
n.46+51_47-52insGGC
c.67+51_68-52insGGC (n.67+51_68-52insGGC)
c.830+51_831-52insGGC
c.46+51_47-52insGGC (n.46+51_47-52insGGC)
c.904+51_905-52insGGC (n.904+51_905-52insGGC)
c.880+51_881-52insGGC (n.880+51_881-52insGGC)
c.889+51_890-52insGGC (n.889+51_890-52insGGC)
c.865+51_866-52insGGC (n.865+51_866-52insGGC)
c.877+51_878-52insGGC (n.877+51_878-52insGGC)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.17000194_17000195insGGCCA999067179ATP13A2c.907+51_908-52insGCC (n.907+51_908-52insGCC)
c.892+51_893-52insGCC (n.892+51_893-52insGCC)
n.515+51_516-52insGCC
n.46+51_47-52insGCC
c.67+51_68-52insGCC (n.67+51_68-52insGCC)
c.830+51_831-52insGCC
c.46+51_47-52insGCC (n.46+51_47-52insGCC)
c.904+51_905-52insGCC (n.904+51_905-52insGCC)
c.880+51_881-52insGCC (n.880+51_881-52insGCC)
c.889+51_890-52insGCC (n.889+51_890-52insGCC)
c.865+51_866-52insGCC (n.865+51_866-52insGCC)
c.877+51_878-52insGCC (n.877+51_878-52insGCC)
 dbSNP gnomAD v3 gnomAD v4
1g.17000194_17000195insTCCCA2643676118ATP13A2c.907+51_908-52insGGA (n.907+51_908-52insGGA)
c.892+51_893-52insGGA (n.892+51_893-52insGGA)
n.515+51_516-52insGGA
n.46+51_47-52insGGA
c.67+51_68-52insGGA (n.67+51_68-52insGGA)
c.830+51_831-52insGGA
c.46+51_47-52insGGA (n.46+51_47-52insGGA)
c.904+51_905-52insGGA (n.904+51_905-52insGGA)
c.880+51_881-52insGGA (n.880+51_881-52insGGA)
c.889+51_890-52insGGA (n.889+51_890-52insGGA)
c.865+51_866-52insGGA (n.865+51_866-52insGGA)
c.877+51_878-52insGGA (n.877+51_878-52insGGA)
 gnomAD v4
1g.17000194_17000195insACCCCA2643676361ATP13A2c.907+51_908-52insGGGT (n.907+51_908-52insGGGT)
c.892+51_893-52insGGGT (n.892+51_893-52insGGGT)
n.515+51_516-52insGGGT
n.46+51_47-52insGGGT
c.67+51_68-52insGGGT (n.67+51_68-52insGGGT)
c.830+51_831-52insGGGT
c.46+51_47-52insGGGT (n.46+51_47-52insGGGT)
c.904+51_905-52insGGGT (n.904+51_905-52insGGGT)
c.880+51_881-52insGGGT (n.880+51_881-52insGGGT)
c.889+51_890-52insGGGT (n.889+51_890-52insGGGT)
c.865+51_866-52insGGGT (n.865+51_866-52insGGGT)
c.877+51_878-52insGGGT (n.877+51_878-52insGGGT)
 gnomAD v4
1g.17000194_17000195insGCCCCA521449779ATP13A2c.907+51_908-52insGGGC (n.907+51_908-52insGGGC)
c.892+51_893-52insGGGC (n.892+51_893-52insGGGC)
n.515+51_516-52insGGGC
n.46+51_47-52insGGGC
c.67+51_68-52insGGGC (n.67+51_68-52insGGGC)
c.830+51_831-52insGGGC
c.46+51_47-52insGGGC (n.46+51_47-52insGGGC)
c.904+51_905-52insGGGC (n.904+51_905-52insGGGC)
c.880+51_881-52insGGGC (n.880+51_881-52insGGGC)
c.889+51_890-52insGGGC (n.889+51_890-52insGGGC)
c.865+51_866-52insGGGC (n.865+51_866-52insGGGC)
c.877+51_878-52insGGGC (n.877+51_878-52insGGGC)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.17000194_17000195insGGCCCA999067120ATP13A2c.907+51_908-52insGGCC (n.907+51_908-52insGGCC)
c.892+51_893-52insGGCC (n.892+51_893-52insGGCC)
n.515+51_516-52insGGCC
n.46+51_47-52insGGCC
c.67+51_68-52insGGCC (n.67+51_68-52insGGCC)
c.830+51_831-52insGGCC
c.46+51_47-52insGGCC (n.46+51_47-52insGGCC)
c.904+51_905-52insGGCC (n.904+51_905-52insGGCC)
c.880+51_881-52insGGCC (n.880+51_881-52insGGCC)
c.889+51_890-52insGGCC (n.889+51_890-52insGGCC)
c.865+51_866-52insGGCC (n.865+51_866-52insGGCC)
c.877+51_878-52insGGCC (n.877+51_878-52insGGCC)
 dbSNP gnomAD v3 gnomAD v4
1g.17000194_17000195insGGGCCA999067135ATP13A2c.907+51_908-52insGCCC (n.907+51_908-52insGCCC)
c.892+51_893-52insGCCC (n.892+51_893-52insGCCC)
n.515+51_516-52insGCCC
n.46+51_47-52insGCCC
c.67+51_68-52insGCCC (n.67+51_68-52insGCCC)
c.830+51_831-52insGCCC
c.46+51_47-52insGCCC (n.46+51_47-52insGCCC)
c.904+51_905-52insGCCC (n.904+51_905-52insGCCC)
c.880+51_881-52insGCCC (n.880+51_881-52insGCCC)
c.889+51_890-52insGCCC (n.889+51_890-52insGCCC)
c.865+51_866-52insGCCC (n.865+51_866-52insGCCC)
c.877+51_878-52insGCCC (n.877+51_878-52insGCCC)
 gnomAD v3 gnomAD v4
1g.17000194_17000195insTCCCCA2574235239ATP13A2c.907+51_908-52insGGGA (n.907+51_908-52insGGGA)
c.892+51_893-52insGGGA (n.892+51_893-52insGGGA)
n.515+51_516-52insGGGA
n.46+51_47-52insGGGA
c.67+51_68-52insGGGA (n.67+51_68-52insGGGA)
c.830+51_831-52insGGGA
c.46+51_47-52insGGGA (n.46+51_47-52insGGGA)
c.904+51_905-52insGGGA (n.904+51_905-52insGGGA)
c.880+51_881-52insGGGA (n.880+51_881-52insGGGA)
c.889+51_890-52insGGGA (n.889+51_890-52insGGGA)
c.865+51_866-52insGGGA (n.865+51_866-52insGGGA)
c.877+51_878-52insGGGA (n.877+51_878-52insGGGA)
 gnomAD v4
1g.17000194_17000195insACCCCCA2643676367ATP13A2c.907+51_908-52insGGGGT (n.907+51_908-52insGGGGT)
c.892+51_893-52insGGGGT (n.892+51_893-52insGGGGT)
n.515+51_516-52insGGGGT
n.46+51_47-52insGGGGT
c.67+51_68-52insGGGGT (n.67+51_68-52insGGGGT)
c.830+51_831-52insGGGGT
c.46+51_47-52insGGGGT (n.46+51_47-52insGGGGT)
c.904+51_905-52insGGGGT (n.904+51_905-52insGGGGT)
c.880+51_881-52insGGGGT (n.880+51_881-52insGGGGT)
c.889+51_890-52insGGGGT (n.889+51_890-52insGGGGT)
c.865+51_866-52insGGGGT (n.865+51_866-52insGGGGT)
c.877+51_878-52insGGGGT (n.877+51_878-52insGGGGT)
 gnomAD v4
1g.17000194_17000195insGCCCCCA521449780ATP13A2c.907+51_908-52insGGGGC (n.907+51_908-52insGGGGC)
c.892+51_893-52insGGGGC (n.892+51_893-52insGGGGC)
n.515+51_516-52insGGGGC
n.46+51_47-52insGGGGC
c.67+51_68-52insGGGGC (n.67+51_68-52insGGGGC)
c.830+51_831-52insGGGGC
c.46+51_47-52insGGGGC (n.46+51_47-52insGGGGC)
c.904+51_905-52insGGGGC (n.904+51_905-52insGGGGC)
c.880+51_881-52insGGGGC (n.880+51_881-52insGGGGC)
c.889+51_890-52insGGGGC (n.889+51_890-52insGGGGC)
c.865+51_866-52insGGGGC (n.865+51_866-52insGGGGC)
c.877+51_878-52insGGGGC (n.877+51_878-52insGGGGC)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.17000194_17000195insGGCCCCA999067125ATP13A2c.907+51_908-52insGGGCC (n.907+51_908-52insGGGCC)
c.892+51_893-52insGGGCC (n.892+51_893-52insGGGCC)
n.515+51_516-52insGGGCC
n.46+51_47-52insGGGCC
c.67+51_68-52insGGGCC (n.67+51_68-52insGGGCC)
c.830+51_831-52insGGGCC
c.46+51_47-52insGGGCC (n.46+51_47-52insGGGCC)
c.904+51_905-52insGGGCC (n.904+51_905-52insGGGCC)
c.880+51_881-52insGGGCC (n.880+51_881-52insGGGCC)
c.889+51_890-52insGGGCC (n.889+51_890-52insGGGCC)
c.865+51_866-52insGGGCC (n.865+51_866-52insGGGCC)
c.877+51_878-52insGGGCC (n.877+51_878-52insGGGCC)
 dbSNP gnomAD v3 gnomAD v4
1g.17000194_17000195insGGCGCCA2643676023ATP13A2c.907+51_908-52insGCGCC (n.907+51_908-52insGCGCC)
c.892+51_893-52insGCGCC (n.892+51_893-52insGCGCC)
n.515+51_516-52insGCGCC
n.46+51_47-52insGCGCC
c.67+51_68-52insGCGCC (n.67+51_68-52insGCGCC)
c.830+51_831-52insGCGCC
c.46+51_47-52insGCGCC (n.46+51_47-52insGCGCC)
c.904+51_905-52insGCGCC (n.904+51_905-52insGCGCC)
c.880+51_881-52insGCGCC (n.880+51_881-52insGCGCC)
c.889+51_890-52insGCGCC (n.889+51_890-52insGCGCC)
c.865+51_866-52insGCGCC (n.865+51_866-52insGCGCC)
c.877+51_878-52insGCGCC (n.877+51_878-52insGCGCC)
 gnomAD v4
1g.17000194_17000195insGGGCCCA999067137ATP13A2c.907+51_908-52insGGCCC (n.907+51_908-52insGGCCC)
c.892+51_893-52insGGCCC (n.892+51_893-52insGGCCC)
n.515+51_516-52insGGCCC
n.46+51_47-52insGGCCC
c.67+51_68-52insGGCCC (n.67+51_68-52insGGCCC)
c.830+51_831-52insGGCCC
c.46+51_47-52insGGCCC (n.46+51_47-52insGGCCC)
c.904+51_905-52insGGCCC (n.904+51_905-52insGGCCC)
c.880+51_881-52insGGCCC (n.880+51_881-52insGGCCC)
c.889+51_890-52insGGCCC (n.889+51_890-52insGGCCC)
c.865+51_866-52insGGCCC (n.865+51_866-52insGGCCC)
c.877+51_878-52insGGCCC (n.877+51_878-52insGGCCC)
 dbSNP gnomAD v3 gnomAD v4
1g.17000194_17000195insGGGGCCA999067149ATP13A2c.907+51_908-52insGCCCC (n.907+51_908-52insGCCCC)
c.892+51_893-52insGCCCC (n.892+51_893-52insGCCCC)
n.515+51_516-52insGCCCC
n.46+51_47-52insGCCCC
c.67+51_68-52insGCCCC (n.67+51_68-52insGCCCC)
c.830+51_831-52insGCCCC
c.46+51_47-52insGCCCC (n.46+51_47-52insGCCCC)
c.904+51_905-52insGCCCC (n.904+51_905-52insGCCCC)
c.880+51_881-52insGCCCC (n.880+51_881-52insGCCCC)
c.889+51_890-52insGCCCC (n.889+51_890-52insGCCCC)
c.865+51_866-52insGCCCC (n.865+51_866-52insGCCCC)
c.877+51_878-52insGCCCC (n.877+51_878-52insGCCCC)
 gnomAD v3 gnomAD v4
1g.17000194_17000195insTCCCCCA2643676127ATP13A2c.907+51_908-52insGGGGA (n.907+51_908-52insGGGGA)
c.892+51_893-52insGGGGA (n.892+51_893-52insGGGGA)
n.515+51_516-52insGGGGA
n.46+51_47-52insGGGGA
c.67+51_68-52insGGGGA (n.67+51_68-52insGGGGA)
c.830+51_831-52insGGGGA
c.46+51_47-52insGGGGA (n.46+51_47-52insGGGGA)
c.904+51_905-52insGGGGA (n.904+51_905-52insGGGGA)
c.880+51_881-52insGGGGA (n.880+51_881-52insGGGGA)
c.889+51_890-52insGGGGA (n.889+51_890-52insGGGGA)
c.865+51_866-52insGGGGA (n.865+51_866-52insGGGGA)
c.877+51_878-52insGGGGA (n.877+51_878-52insGGGGA)
 gnomAD v4
1g.17000194_17000195insACCCCCCA2643676371ATP13A2c.907+51_908-52insGGGGGT (n.907+51_908-52insGGGGGT)
c.892+51_893-52insGGGGGT (n.892+51_893-52insGGGGGT)
n.515+51_516-52insGGGGGT
n.46+51_47-52insGGGGGT
c.67+51_68-52insGGGGGT (n.67+51_68-52insGGGGGT)
c.830+51_831-52insGGGGGT
c.46+51_47-52insGGGGGT (n.46+51_47-52insGGGGGT)
c.904+51_905-52insGGGGGT (n.904+51_905-52insGGGGGT)
c.880+51_881-52insGGGGGT (n.880+51_881-52insGGGGGT)
c.889+51_890-52insGGGGGT (n.889+51_890-52insGGGGGT)
c.865+51_866-52insGGGGGT (n.865+51_866-52insGGGGGT)
c.877+51_878-52insGGGGGT (n.877+51_878-52insGGGGGT)
 gnomAD v4
1g.17000194_17000195insGCCCCCCA521449781ATP13A2c.907+51_908-52insGGGGGC (n.907+51_908-52insGGGGGC)
c.892+51_893-52insGGGGGC (n.892+51_893-52insGGGGGC)
n.515+51_516-52insGGGGGC
n.46+51_47-52insGGGGGC
c.67+51_68-52insGGGGGC (n.67+51_68-52insGGGGGC)
c.830+51_831-52insGGGGGC
c.46+51_47-52insGGGGGC (n.46+51_47-52insGGGGGC)
c.904+51_905-52insGGGGGC (n.904+51_905-52insGGGGGC)
c.880+51_881-52insGGGGGC (n.880+51_881-52insGGGGGC)
c.889+51_890-52insGGGGGC (n.889+51_890-52insGGGGGC)
c.865+51_866-52insGGGGGC (n.865+51_866-52insGGGGGC)
c.877+51_878-52insGGGGGC (n.877+51_878-52insGGGGGC)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.17000194_17000195insGGCCCCCA999067126ATP13A2c.907+51_908-52insGGGGCC (n.907+51_908-52insGGGGCC)
c.892+51_893-52insGGGGCC (n.892+51_893-52insGGGGCC)
n.515+51_516-52insGGGGCC
n.46+51_47-52insGGGGCC
c.67+51_68-52insGGGGCC (n.67+51_68-52insGGGGCC)
c.830+51_831-52insGGGGCC
c.46+51_47-52insGGGGCC (n.46+51_47-52insGGGGCC)
c.904+51_905-52insGGGGCC (n.904+51_905-52insGGGGCC)
c.880+51_881-52insGGGGCC (n.880+51_881-52insGGGGCC)
c.889+51_890-52insGGGGCC (n.889+51_890-52insGGGGCC)
c.865+51_866-52insGGGGCC (n.865+51_866-52insGGGGCC)
c.877+51_878-52insGGGGCC (n.877+51_878-52insGGGGCC)
 dbSNP gnomAD v3 gnomAD v4
1g.17000194_17000195insGGCGCCCA2643676033ATP13A2c.907+51_908-52insGGCGCC (n.907+51_908-52insGGCGCC)
c.892+51_893-52insGGCGCC (n.892+51_893-52insGGCGCC)
n.515+51_516-52insGGCGCC
n.46+51_47-52insGGCGCC
c.67+51_68-52insGGCGCC (n.67+51_68-52insGGCGCC)
c.830+51_831-52insGGCGCC
c.46+51_47-52insGGCGCC (n.46+51_47-52insGGCGCC)
c.904+51_905-52insGGCGCC (n.904+51_905-52insGGCGCC)
c.880+51_881-52insGGCGCC (n.880+51_881-52insGGCGCC)
c.889+51_890-52insGGCGCC (n.889+51_890-52insGGCGCC)
c.865+51_866-52insGGCGCC (n.865+51_866-52insGGCGCC)
c.877+51_878-52insGGCGCC (n.877+51_878-52insGGCGCC)
 gnomAD v4
1g.17000194_17000195insGGGCCCCA999067139ATP13A2c.907+51_908-52insGGGCCC (n.907+51_908-52insGGGCCC)
c.892+51_893-52insGGGCCC (n.892+51_893-52insGGGCCC)
n.515+51_516-52insGGGCCC
n.46+51_47-52insGGGCCC
c.67+51_68-52insGGGCCC (n.67+51_68-52insGGGCCC)
c.830+51_831-52insGGGCCC
c.46+51_47-52insGGGCCC (n.46+51_47-52insGGGCCC)
c.904+51_905-52insGGGCCC (n.904+51_905-52insGGGCCC)
c.880+51_881-52insGGGCCC (n.880+51_881-52insGGGCCC)
c.889+51_890-52insGGGCCC (n.889+51_890-52insGGGCCC)
c.865+51_866-52insGGGCCC (n.865+51_866-52insGGGCCC)
c.877+51_878-52insGGGCCC (n.877+51_878-52insGGGCCC)
 dbSNP gnomAD v3 gnomAD v4
1g.17000194_17000195insGGGCGCCA2643675967ATP13A2c.907+51_908-52insGCGCCC (n.907+51_908-52insGCGCCC)
c.892+51_893-52insGCGCCC (n.892+51_893-52insGCGCCC)
n.515+51_516-52insGCGCCC
n.46+51_47-52insGCGCCC
c.67+51_68-52insGCGCCC (n.67+51_68-52insGCGCCC)
c.830+51_831-52insGCGCCC
c.46+51_47-52insGCGCCC (n.46+51_47-52insGCGCCC)
c.904+51_905-52insGCGCCC (n.904+51_905-52insGCGCCC)
c.880+51_881-52insGCGCCC (n.880+51_881-52insGCGCCC)
c.889+51_890-52insGCGCCC (n.889+51_890-52insGCGCCC)
c.865+51_866-52insGCGCCC (n.865+51_866-52insGCGCCC)
c.877+51_878-52insGCGCCC (n.877+51_878-52insGCGCCC)
 gnomAD v4
1g.17000194_17000195insGGGGCCCA999067152ATP13A2c.907+51_908-52insGGCCCC (n.907+51_908-52insGGCCCC)
c.892+51_893-52insGGCCCC (n.892+51_893-52insGGCCCC)
n.515+51_516-52insGGCCCC
n.46+51_47-52insGGCCCC
c.67+51_68-52insGGCCCC (n.67+51_68-52insGGCCCC)
c.830+51_831-52insGGCCCC
c.46+51_47-52insGGCCCC (n.46+51_47-52insGGCCCC)
c.904+51_905-52insGGCCCC (n.904+51_905-52insGGCCCC)
c.880+51_881-52insGGCCCC (n.880+51_881-52insGGCCCC)
c.889+51_890-52insGGCCCC (n.889+51_890-52insGGCCCC)
c.865+51_866-52insGGCCCC (n.865+51_866-52insGGCCCC)
c.877+51_878-52insGGCCCC (n.877+51_878-52insGGCCCC)
 gnomAD v3 gnomAD v4
1g.17000194_17000195insGGGGGCCA2643676181ATP13A2c.907+51_908-52insGCCCCC (n.907+51_908-52insGCCCCC)
c.892+51_893-52insGCCCCC (n.892+51_893-52insGCCCCC)
n.515+51_516-52insGCCCCC
n.46+51_47-52insGCCCCC
c.67+51_68-52insGCCCCC (n.67+51_68-52insGCCCCC)
c.830+51_831-52insGCCCCC
c.46+51_47-52insGCCCCC (n.46+51_47-52insGCCCCC)
c.904+51_905-52insGCCCCC (n.904+51_905-52insGCCCCC)
c.880+51_881-52insGCCCCC (n.880+51_881-52insGCCCCC)
c.889+51_890-52insGCCCCC (n.889+51_890-52insGCCCCC)
c.865+51_866-52insGCCCCC (n.865+51_866-52insGCCCCC)
c.877+51_878-52insGCCCCC (n.877+51_878-52insGCCCCC)
 gnomAD v4
1g.17000194_17000195insTCCCCCCA2643676132ATP13A2c.907+51_908-52insGGGGGA (n.907+51_908-52insGGGGGA)
c.892+51_893-52insGGGGGA (n.892+51_893-52insGGGGGA)
n.515+51_516-52insGGGGGA
n.46+51_47-52insGGGGGA
c.67+51_68-52insGGGGGA (n.67+51_68-52insGGGGGA)
c.830+51_831-52insGGGGGA
c.46+51_47-52insGGGGGA (n.46+51_47-52insGGGGGA)
c.904+51_905-52insGGGGGA (n.904+51_905-52insGGGGGA)
c.880+51_881-52insGGGGGA (n.880+51_881-52insGGGGGA)
c.889+51_890-52insGGGGGA (n.889+51_890-52insGGGGGA)
c.865+51_866-52insGGGGGA (n.865+51_866-52insGGGGGA)
c.877+51_878-52insGGGGGA (n.877+51_878-52insGGGGGA)
 gnomAD v4
1g.17000194_17000195insGCCCCCCCA999067167ATP13A2c.907+51_908-52insGGGGGGC (n.907+51_908-52insGGGGGGC)
c.892+51_893-52insGGGGGGC (n.892+51_893-52insGGGGGGC)
n.515+51_516-52insGGGGGGC
n.46+51_47-52insGGGGGGC
c.67+51_68-52insGGGGGGC (n.67+51_68-52insGGGGGGC)
c.830+51_831-52insGGGGGGC
c.46+51_47-52insGGGGGGC (n.46+51_47-52insGGGGGGC)
c.904+51_905-52insGGGGGGC (n.904+51_905-52insGGGGGGC)
c.880+51_881-52insGGGGGGC (n.880+51_881-52insGGGGGGC)
c.889+51_890-52insGGGGGGC (n.889+51_890-52insGGGGGGC)
c.865+51_866-52insGGGGGGC (n.865+51_866-52insGGGGGGC)
c.877+51_878-52insGGGGGGC (n.877+51_878-52insGGGGGGC)
 gnomAD v3 gnomAD v4
1g.17000194_17000195insGGCCCCCCA999067131ATP13A2c.907+51_908-52insGGGGGCC (n.907+51_908-52insGGGGGCC)
c.892+51_893-52insGGGGGCC (n.892+51_893-52insGGGGGCC)
n.515+51_516-52insGGGGGCC
n.46+51_47-52insGGGGGCC
c.67+51_68-52insGGGGGCC (n.67+51_68-52insGGGGGCC)
c.830+51_831-52insGGGGGCC
c.46+51_47-52insGGGGGCC (n.46+51_47-52insGGGGGCC)
c.904+51_905-52insGGGGGCC (n.904+51_905-52insGGGGGCC)
c.880+51_881-52insGGGGGCC (n.880+51_881-52insGGGGGCC)
c.889+51_890-52insGGGGGCC (n.889+51_890-52insGGGGGCC)
c.865+51_866-52insGGGGGCC (n.865+51_866-52insGGGGGCC)
c.877+51_878-52insGGGGGCC (n.877+51_878-52insGGGGGCC)
 gnomAD v3 gnomAD v4
1g.17000194_17000195insGGCGCCCCA2643676040ATP13A2c.907+51_908-52insGGGCGCC (n.907+51_908-52insGGGCGCC)
c.892+51_893-52insGGGCGCC (n.892+51_893-52insGGGCGCC)
n.515+51_516-52insGGGCGCC
n.46+51_47-52insGGGCGCC
c.67+51_68-52insGGGCGCC (n.67+51_68-52insGGGCGCC)
c.830+51_831-52insGGGCGCC
c.46+51_47-52insGGGCGCC (n.46+51_47-52insGGGCGCC)
c.904+51_905-52insGGGCGCC (n.904+51_905-52insGGGCGCC)
c.880+51_881-52insGGGCGCC (n.880+51_881-52insGGGCGCC)
c.889+51_890-52insGGGCGCC (n.889+51_890-52insGGGCGCC)
c.865+51_866-52insGGGCGCC (n.865+51_866-52insGGGCGCC)
c.877+51_878-52insGGGCGCC (n.877+51_878-52insGGGCGCC)
 gnomAD v4
1g.17000194_17000195insGGGCCCCCA999067145ATP13A2c.907+51_908-52insGGGGCCC (n.907+51_908-52insGGGGCCC)
c.892+51_893-52insGGGGCCC (n.892+51_893-52insGGGGCCC)
n.515+51_516-52insGGGGCCC
n.46+51_47-52insGGGGCCC
c.67+51_68-52insGGGGCCC (n.67+51_68-52insGGGGCCC)
c.830+51_831-52insGGGGCCC
c.46+51_47-52insGGGGCCC (n.46+51_47-52insGGGGCCC)
c.904+51_905-52insGGGGCCC (n.904+51_905-52insGGGGCCC)
c.880+51_881-52insGGGGCCC (n.880+51_881-52insGGGGCCC)
c.889+51_890-52insGGGGCCC (n.889+51_890-52insGGGGCCC)
c.865+51_866-52insGGGGCCC (n.865+51_866-52insGGGGCCC)
c.877+51_878-52insGGGGCCC (n.877+51_878-52insGGGGCCC)
 dbSNP gnomAD v3 gnomAD v4
1g.17000194_17000195insGGGCCGCCA2643675953ATP13A2c.907+51_908-52insGCGGCCC (n.907+51_908-52insGCGGCCC)
c.892+51_893-52insGCGGCCC (n.892+51_893-52insGCGGCCC)
n.515+51_516-52insGCGGCCC
n.46+51_47-52insGCGGCCC
c.67+51_68-52insGCGGCCC (n.67+51_68-52insGCGGCCC)
c.830+51_831-52insGCGGCCC
c.46+51_47-52insGCGGCCC (n.46+51_47-52insGCGGCCC)
c.904+51_905-52insGCGGCCC (n.904+51_905-52insGCGGCCC)
c.880+51_881-52insGCGGCCC (n.880+51_881-52insGCGGCCC)
c.889+51_890-52insGCGGCCC (n.889+51_890-52insGCGGCCC)
c.865+51_866-52insGCGGCCC (n.865+51_866-52insGCGGCCC)
c.877+51_878-52insGCGGCCC (n.877+51_878-52insGCGGCCC)
 gnomAD v4
1g.17000194_17000195insGGGCGCCCA2643675971ATP13A2c.907+51_908-52insGGCGCCC (n.907+51_908-52insGGCGCCC)
c.892+51_893-52insGGCGCCC (n.892+51_893-52insGGCGCCC)
n.515+51_516-52insGGCGCCC
n.46+51_47-52insGGCGCCC
c.67+51_68-52insGGCGCCC (n.67+51_68-52insGGCGCCC)
c.830+51_831-52insGGCGCCC
c.46+51_47-52insGGCGCCC (n.46+51_47-52insGGCGCCC)
c.904+51_905-52insGGCGCCC (n.904+51_905-52insGGCGCCC)
c.880+51_881-52insGGCGCCC (n.880+51_881-52insGGCGCCC)
c.889+51_890-52insGGCGCCC (n.889+51_890-52insGGCGCCC)
c.865+51_866-52insGGCGCCC (n.865+51_866-52insGGCGCCC)
c.877+51_878-52insGGCGCCC (n.877+51_878-52insGGCGCCC)
 gnomAD v4
1g.17000194_17000195insGGGGCCCCA2593546171ATP13A2c.907+51_908-52insGGGCCCC (n.907+51_908-52insGGGCCCC)
c.892+51_893-52insGGGCCCC (n.892+51_893-52insGGGCCCC)
n.515+51_516-52insGGGCCCC
n.46+51_47-52insGGGCCCC
c.67+51_68-52insGGGCCCC (n.67+51_68-52insGGGCCCC)
c.830+51_831-52insGGGCCCC
c.46+51_47-52insGGGCCCC (n.46+51_47-52insGGGCCCC)
c.904+51_905-52insGGGCCCC (n.904+51_905-52insGGGCCCC)
c.880+51_881-52insGGGCCCC (n.880+51_881-52insGGGCCCC)
c.889+51_890-52insGGGCCCC (n.889+51_890-52insGGGCCCC)
c.865+51_866-52insGGGCCCC (n.865+51_866-52insGGGCCCC)
c.877+51_878-52insGGGCCCC (n.877+51_878-52insGGGCCCC)
 gnomAD v3 gnomAD v4
1g.17000194_17000195insGGGGCGCCA2643676164ATP13A2c.907+51_908-52insGCGCCCC (n.907+51_908-52insGCGCCCC)
c.892+51_893-52insGCGCCCC (n.892+51_893-52insGCGCCCC)
n.515+51_516-52insGCGCCCC
n.46+51_47-52insGCGCCCC
c.67+51_68-52insGCGCCCC (n.67+51_68-52insGCGCCCC)
c.830+51_831-52insGCGCCCC
c.46+51_47-52insGCGCCCC (n.46+51_47-52insGCGCCCC)
c.904+51_905-52insGCGCCCC (n.904+51_905-52insGCGCCCC)
c.880+51_881-52insGCGCCCC (n.880+51_881-52insGCGCCCC)
c.889+51_890-52insGCGCCCC (n.889+51_890-52insGCGCCCC)
c.865+51_866-52insGCGCCCC (n.865+51_866-52insGCGCCCC)
c.877+51_878-52insGCGCCCC (n.877+51_878-52insGCGCCCC)
 gnomAD v4
1g.17000194_17000195insGGGGGCCCA2643676184ATP13A2c.907+51_908-52insGGCCCCC (n.907+51_908-52insGGCCCCC)
c.892+51_893-52insGGCCCCC (n.892+51_893-52insGGCCCCC)
n.515+51_516-52insGGCCCCC
n.46+51_47-52insGGCCCCC
c.67+51_68-52insGGCCCCC (n.67+51_68-52insGGCCCCC)
c.830+51_831-52insGGCCCCC
c.46+51_47-52insGGCCCCC (n.46+51_47-52insGGCCCCC)
c.904+51_905-52insGGCCCCC (n.904+51_905-52insGGCCCCC)
c.880+51_881-52insGGCCCCC (n.880+51_881-52insGGCCCCC)
c.889+51_890-52insGGCCCCC (n.889+51_890-52insGGCCCCC)
c.865+51_866-52insGGCCCCC (n.865+51_866-52insGGCCCCC)
c.877+51_878-52insGGCCCCC (n.877+51_878-52insGGCCCCC)
 gnomAD v4
1g.17000194_17000195insGGGGGGCCA2643676230ATP13A2c.907+51_908-52insGCCCCCC (n.907+51_908-52insGCCCCCC)
c.892+51_893-52insGCCCCCC (n.892+51_893-52insGCCCCCC)
n.515+51_516-52insGCCCCCC
n.46+51_47-52insGCCCCCC
c.67+51_68-52insGCCCCCC (n.67+51_68-52insGCCCCCC)
c.830+51_831-52insGCCCCCC
c.46+51_47-52insGCCCCCC (n.46+51_47-52insGCCCCCC)
c.904+51_905-52insGCCCCCC (n.904+51_905-52insGCCCCCC)
c.880+51_881-52insGCCCCCC (n.880+51_881-52insGCCCCCC)
c.889+51_890-52insGCCCCCC (n.889+51_890-52insGCCCCCC)
c.865+51_866-52insGCCCCCC (n.865+51_866-52insGCCCCCC)
c.877+51_878-52insGCCCCCC (n.877+51_878-52insGCCCCCC)
 gnomAD v4
1g.17000194_17000195insACCCCCCCCA2643676378ATP13A2c.907+51_908-52insGGGGGGGT (n.907+51_908-52insGGGGGGGT)
c.892+51_893-52insGGGGGGGT (n.892+51_893-52insGGGGGGGT)
n.515+51_516-52insGGGGGGGT
n.46+51_47-52insGGGGGGGT
c.67+51_68-52insGGGGGGGT (n.67+51_68-52insGGGGGGGT)
c.830+51_831-52insGGGGGGGT
c.46+51_47-52insGGGGGGGT (n.46+51_47-52insGGGGGGGT)
c.904+51_905-52insGGGGGGGT (n.904+51_905-52insGGGGGGGT)
c.880+51_881-52insGGGGGGGT (n.880+51_881-52insGGGGGGGT)
c.889+51_890-52insGGGGGGGT (n.889+51_890-52insGGGGGGGT)
c.865+51_866-52insGGGGGGGT (n.865+51_866-52insGGGGGGGT)
c.877+51_878-52insGGGGGGGT (n.877+51_878-52insGGGGGGGT)
 gnomAD v4
1g.17000194_17000195insGCCCCCCCCA999067169ATP13A2c.907+51_908-52insGGGGGGGC (n.907+51_908-52insGGGGGGGC)
c.892+51_893-52insGGGGGGGC (n.892+51_893-52insGGGGGGGC)
n.515+51_516-52insGGGGGGGC
n.46+51_47-52insGGGGGGGC
c.67+51_68-52insGGGGGGGC (n.67+51_68-52insGGGGGGGC)
c.830+51_831-52insGGGGGGGC
c.46+51_47-52insGGGGGGGC (n.46+51_47-52insGGGGGGGC)
c.904+51_905-52insGGGGGGGC (n.904+51_905-52insGGGGGGGC)
c.880+51_881-52insGGGGGGGC (n.880+51_881-52insGGGGGGGC)
c.889+51_890-52insGGGGGGGC (n.889+51_890-52insGGGGGGGC)
c.865+51_866-52insGGGGGGGC (n.865+51_866-52insGGGGGGGC)
c.877+51_878-52insGGGGGGGC (n.877+51_878-52insGGGGGGGC)
 gnomAD v3 gnomAD v4
1g.17000194_17000195insGGCCCCCCCA2593546173ATP13A2c.907+51_908-52insGGGGGGCC (n.907+51_908-52insGGGGGGCC)
c.892+51_893-52insGGGGGGCC (n.892+51_893-52insGGGGGGCC)
n.515+51_516-52insGGGGGGCC
n.46+51_47-52insGGGGGGCC
c.67+51_68-52insGGGGGGCC (n.67+51_68-52insGGGGGGCC)
c.830+51_831-52insGGGGGGCC
c.46+51_47-52insGGGGGGCC (n.46+51_47-52insGGGGGGCC)
c.904+51_905-52insGGGGGGCC (n.904+51_905-52insGGGGGGCC)
c.880+51_881-52insGGGGGGCC (n.880+51_881-52insGGGGGGCC)
c.889+51_890-52insGGGGGGCC (n.889+51_890-52insGGGGGGCC)
c.865+51_866-52insGGGGGGCC (n.865+51_866-52insGGGGGGCC)
c.877+51_878-52insGGGGGGCC (n.877+51_878-52insGGGGGGCC)
 gnomAD v3 gnomAD v4
1g.17000194_17000195insGGCCGCCCCA2643676019ATP13A2c.907+51_908-52insGGGCGGCC (n.907+51_908-52insGGGCGGCC)
c.892+51_893-52insGGGCGGCC (n.892+51_893-52insGGGCGGCC)
n.515+51_516-52insGGGCGGCC
n.46+51_47-52insGGGCGGCC
c.67+51_68-52insGGGCGGCC (n.67+51_68-52insGGGCGGCC)
c.830+51_831-52insGGGCGGCC
c.46+51_47-52insGGGCGGCC (n.46+51_47-52insGGGCGGCC)
c.904+51_905-52insGGGCGGCC (n.904+51_905-52insGGGCGGCC)
c.880+51_881-52insGGGCGGCC (n.880+51_881-52insGGGCGGCC)
c.889+51_890-52insGGGCGGCC (n.889+51_890-52insGGGCGGCC)
c.865+51_866-52insGGGCGGCC (n.865+51_866-52insGGGCGGCC)
c.877+51_878-52insGGGCGGCC (n.877+51_878-52insGGGCGGCC)
 gnomAD v4
1g.17000194_17000195insGGCGCCCCCA2643676043ATP13A2c.907+51_908-52insGGGGCGCC (n.907+51_908-52insGGGGCGCC)
c.892+51_893-52insGGGGCGCC (n.892+51_893-52insGGGGCGCC)
n.515+51_516-52insGGGGCGCC
n.46+51_47-52insGGGGCGCC
c.67+51_68-52insGGGGCGCC (n.67+51_68-52insGGGGCGCC)
c.830+51_831-52insGGGGCGCC
c.46+51_47-52insGGGGCGCC (n.46+51_47-52insGGGGCGCC)
c.904+51_905-52insGGGGCGCC (n.904+51_905-52insGGGGCGCC)
c.880+51_881-52insGGGGCGCC (n.880+51_881-52insGGGGCGCC)
c.889+51_890-52insGGGGCGCC (n.889+51_890-52insGGGGCGCC)
c.865+51_866-52insGGGGCGCC (n.865+51_866-52insGGGGCGCC)
c.877+51_878-52insGGGGCGCC (n.877+51_878-52insGGGGCGCC)
 gnomAD v4
1g.17000194_17000195insGGGCCCCCCA2643676059ATP13A2c.907+51_908-52insGGGGGCCC (n.907+51_908-52insGGGGGCCC)
c.892+51_893-52insGGGGGCCC (n.892+51_893-52insGGGGGCCC)
n.515+51_516-52insGGGGGCCC
n.46+51_47-52insGGGGGCCC
c.67+51_68-52insGGGGGCCC (n.67+51_68-52insGGGGGCCC)
c.830+51_831-52insGGGGGCCC
c.46+51_47-52insGGGGGCCC (n.46+51_47-52insGGGGGCCC)
c.904+51_905-52insGGGGGCCC (n.904+51_905-52insGGGGGCCC)
c.880+51_881-52insGGGGGCCC (n.880+51_881-52insGGGGGCCC)
c.889+51_890-52insGGGGGCCC (n.889+51_890-52insGGGGGCCC)
c.865+51_866-52insGGGGGCCC (n.865+51_866-52insGGGGGCCC)
c.877+51_878-52insGGGGGCCC (n.877+51_878-52insGGGGGCCC)
 gnomAD v4
1g.17000194_17000195insGGGCCGCCCA2643675956ATP13A2c.907+51_908-52insGGCGGCCC (n.907+51_908-52insGGCGGCCC)
c.892+51_893-52insGGCGGCCC (n.892+51_893-52insGGCGGCCC)
n.515+51_516-52insGGCGGCCC
n.46+51_47-52insGGCGGCCC
c.67+51_68-52insGGCGGCCC (n.67+51_68-52insGGCGGCCC)
c.830+51_831-52insGGCGGCCC
c.46+51_47-52insGGCGGCCC (n.46+51_47-52insGGCGGCCC)
c.904+51_905-52insGGCGGCCC (n.904+51_905-52insGGCGGCCC)
c.880+51_881-52insGGCGGCCC (n.880+51_881-52insGGCGGCCC)
c.889+51_890-52insGGCGGCCC (n.889+51_890-52insGGCGGCCC)
c.865+51_866-52insGGCGGCCC (n.865+51_866-52insGGCGGCCC)
c.877+51_878-52insGGCGGCCC (n.877+51_878-52insGGCGGCCC)
 gnomAD v4
1g.17000194_17000195insGGGCGCCCCA2643675973ATP13A2c.907+51_908-52insGGGCGCCC (n.907+51_908-52insGGGCGCCC)
c.892+51_893-52insGGGCGCCC (n.892+51_893-52insGGGCGCCC)
n.515+51_516-52insGGGCGCCC
n.46+51_47-52insGGGCGCCC
c.67+51_68-52insGGGCGCCC (n.67+51_68-52insGGGCGCCC)
c.830+51_831-52insGGGCGCCC
c.46+51_47-52insGGGCGCCC (n.46+51_47-52insGGGCGCCC)
c.904+51_905-52insGGGCGCCC (n.904+51_905-52insGGGCGCCC)
c.880+51_881-52insGGGCGCCC (n.880+51_881-52insGGGCGCCC)
c.889+51_890-52insGGGCGCCC (n.889+51_890-52insGGGCGCCC)
c.865+51_866-52insGGGCGCCC (n.865+51_866-52insGGGCGCCC)
c.877+51_878-52insGGGCGCCC (n.877+51_878-52insGGGCGCCC)
 gnomAD v4
1g.17000194_17000195insGGGGCCCCCA2511787236ATP13A2c.907+51_908-52insGGGGCCCC (n.907+51_908-52insGGGGCCCC)
c.892+51_893-52insGGGGCCCC (n.892+51_893-52insGGGGCCCC)
n.515+51_516-52insGGGGCCCC
n.46+51_47-52insGGGGCCCC
c.67+51_68-52insGGGGCCCC (n.67+51_68-52insGGGGCCCC)
c.830+51_831-52insGGGGCCCC
c.46+51_47-52insGGGGCCCC (n.46+51_47-52insGGGGCCCC)
c.904+51_905-52insGGGGCCCC (n.904+51_905-52insGGGGCCCC)
c.880+51_881-52insGGGGCCCC (n.880+51_881-52insGGGGCCCC)
c.889+51_890-52insGGGGCCCC (n.889+51_890-52insGGGGCCCC)
c.865+51_866-52insGGGGCCCC (n.865+51_866-52insGGGGCCCC)
c.877+51_878-52insGGGGCCCC (n.877+51_878-52insGGGGCCCC)
 gnomAD v4
1g.17000194_17000195insGGGGCGCCCA2643676179ATP13A2c.907+51_908-52insGGCGCCCC (n.907+51_908-52insGGCGCCCC)
c.892+51_893-52insGGCGCCCC (n.892+51_893-52insGGCGCCCC)
n.515+51_516-52insGGCGCCCC
n.46+51_47-52insGGCGCCCC
c.67+51_68-52insGGCGCCCC (n.67+51_68-52insGGCGCCCC)
c.830+51_831-52insGGCGCCCC
c.46+51_47-52insGGCGCCCC (n.46+51_47-52insGGCGCCCC)
c.904+51_905-52insGGCGCCCC (n.904+51_905-52insGGCGCCCC)
c.880+51_881-52insGGCGCCCC (n.880+51_881-52insGGCGCCCC)
c.889+51_890-52insGGCGCCCC (n.889+51_890-52insGGCGCCCC)
c.865+51_866-52insGGCGCCCC (n.865+51_866-52insGGCGCCCC)
c.877+51_878-52insGGCGCCCC (n.877+51_878-52insGGCGCCCC)
 gnomAD v4
1g.17000194_17000195insGGGGGCCCCA2643676189ATP13A2c.907+51_908-52insGGGCCCCC (n.907+51_908-52insGGGCCCCC)
c.892+51_893-52insGGGCCCCC (n.892+51_893-52insGGGCCCCC)
n.515+51_516-52insGGGCCCCC
n.46+51_47-52insGGGCCCCC
c.67+51_68-52insGGGCCCCC (n.67+51_68-52insGGGCCCCC)
c.830+51_831-52insGGGCCCCC
c.46+51_47-52insGGGCCCCC (n.46+51_47-52insGGGCCCCC)
c.904+51_905-52insGGGCCCCC (n.904+51_905-52insGGGCCCCC)
c.880+51_881-52insGGGCCCCC (n.880+51_881-52insGGGCCCCC)
c.889+51_890-52insGGGCCCCC (n.889+51_890-52insGGGCCCCC)
c.865+51_866-52insGGGCCCCC (n.865+51_866-52insGGGCCCCC)
c.877+51_878-52insGGGCCCCC (n.877+51_878-52insGGGCCCCC)
 gnomAD v4
1g.17000194_17000195insGGGGGGCCCA2643676235ATP13A2c.907+51_908-52insGGCCCCCC (n.907+51_908-52insGGCCCCCC)
c.892+51_893-52insGGCCCCCC (n.892+51_893-52insGGCCCCCC)
n.515+51_516-52insGGCCCCCC
n.46+51_47-52insGGCCCCCC
c.67+51_68-52insGGCCCCCC (n.67+51_68-52insGGCCCCCC)
c.830+51_831-52insGGCCCCCC
c.46+51_47-52insGGCCCCCC (n.46+51_47-52insGGCCCCCC)
c.904+51_905-52insGGCCCCCC (n.904+51_905-52insGGCCCCCC)
c.880+51_881-52insGGCCCCCC (n.880+51_881-52insGGCCCCCC)
c.889+51_890-52insGGCCCCCC (n.889+51_890-52insGGCCCCCC)
c.865+51_866-52insGGCCCCCC (n.865+51_866-52insGGCCCCCC)
c.877+51_878-52insGGCCCCCC (n.877+51_878-52insGGCCCCCC)
 gnomAD v4
1g.17000194_17000195insGGGGGGGCCA2643676095ATP13A2c.907+51_908-52insGCCCCCCC (n.907+51_908-52insGCCCCCCC)
c.892+51_893-52insGCCCCCCC (n.892+51_893-52insGCCCCCCC)
n.515+51_516-52insGCCCCCCC
n.46+51_47-52insGCCCCCCC
c.67+51_68-52insGCCCCCCC (n.67+51_68-52insGCCCCCCC)
c.830+51_831-52insGCCCCCCC
c.46+51_47-52insGCCCCCCC (n.46+51_47-52insGCCCCCCC)
c.904+51_905-52insGCCCCCCC (n.904+51_905-52insGCCCCCCC)
c.880+51_881-52insGCCCCCCC (n.880+51_881-52insGCCCCCCC)
c.889+51_890-52insGCCCCCCC (n.889+51_890-52insGCCCCCCC)
c.865+51_866-52insGCCCCCCC (n.865+51_866-52insGCCCCCCC)
c.877+51_878-52insGCCCCCCC (n.877+51_878-52insGCCCCCCC)
 gnomAD v4
1g.17000194_17000195insGCCCCCCCCCA2574235249ATP13A2c.907+51_908-52insGGGGGGGGC (n.907+51_908-52insGGGGGGGGC)
c.892+51_893-52insGGGGGGGGC (n.892+51_893-52insGGGGGGGGC)
n.515+51_516-52insGGGGGGGGC
n.46+51_47-52insGGGGGGGGC
c.67+51_68-52insGGGGGGGGC (n.67+51_68-52insGGGGGGGGC)
c.830+51_831-52insGGGGGGGGC
c.46+51_47-52insGGGGGGGGC (n.46+51_47-52insGGGGGGGGC)
c.904+51_905-52insGGGGGGGGC (n.904+51_905-52insGGGGGGGGC)
c.880+51_881-52insGGGGGGGGC (n.880+51_881-52insGGGGGGGGC)
c.889+51_890-52insGGGGGGGGC (n.889+51_890-52insGGGGGGGGC)
c.865+51_866-52insGGGGGGGGC (n.865+51_866-52insGGGGGGGGC)
c.877+51_878-52insGGGGGGGGC (n.877+51_878-52insGGGGGGGGC)
 gnomAD v4
1g.17000194_17000195insGGCCCCCCCCA2593546162ATP13A2c.907+51_908-52insGGGGGGGCC (n.907+51_908-52insGGGGGGGCC)
c.892+51_893-52insGGGGGGGCC (n.892+51_893-52insGGGGGGGCC)
n.515+51_516-52insGGGGGGGCC
n.46+51_47-52insGGGGGGGCC
c.67+51_68-52insGGGGGGGCC (n.67+51_68-52insGGGGGGGCC)
c.830+51_831-52insGGGGGGGCC
c.46+51_47-52insGGGGGGGCC (n.46+51_47-52insGGGGGGGCC)
c.904+51_905-52insGGGGGGGCC (n.904+51_905-52insGGGGGGGCC)
c.880+51_881-52insGGGGGGGCC (n.880+51_881-52insGGGGGGGCC)
c.889+51_890-52insGGGGGGGCC (n.889+51_890-52insGGGGGGGCC)
c.865+51_866-52insGGGGGGGCC (n.865+51_866-52insGGGGGGGCC)
c.877+51_878-52insGGGGGGGCC (n.877+51_878-52insGGGGGGGCC)
 gnomAD v3 gnomAD v4
1g.17000194_17000195insGGGCCCCCCCA2643676066ATP13A2c.907+51_908-52insGGGGGGCCC (n.907+51_908-52insGGGGGGCCC)
c.892+51_893-52insGGGGGGCCC (n.892+51_893-52insGGGGGGCCC)
n.515+51_516-52insGGGGGGCCC
n.46+51_47-52insGGGGGGCCC
c.67+51_68-52insGGGGGGCCC (n.67+51_68-52insGGGGGGCCC)
c.830+51_831-52insGGGGGGCCC
c.46+51_47-52insGGGGGGCCC (n.46+51_47-52insGGGGGGCCC)
c.904+51_905-52insGGGGGGCCC (n.904+51_905-52insGGGGGGCCC)
c.880+51_881-52insGGGGGGCCC (n.880+51_881-52insGGGGGGCCC)
c.889+51_890-52insGGGGGGCCC (n.889+51_890-52insGGGGGGCCC)
c.865+51_866-52insGGGGGGCCC (n.865+51_866-52insGGGGGGCCC)
c.877+51_878-52insGGGGGGCCC (n.877+51_878-52insGGGGGGCCC)
 gnomAD v4
1g.17000194_17000195insGGGCGCCCCCA2643675982ATP13A2c.907+51_908-52insGGGGCGCCC (n.907+51_908-52insGGGGCGCCC)
c.892+51_893-52insGGGGCGCCC (n.892+51_893-52insGGGGCGCCC)
n.515+51_516-52insGGGGCGCCC
n.46+51_47-52insGGGGCGCCC
c.67+51_68-52insGGGGCGCCC (n.67+51_68-52insGGGGCGCCC)
c.830+51_831-52insGGGGCGCCC
c.46+51_47-52insGGGGCGCCC (n.46+51_47-52insGGGGCGCCC)
c.904+51_905-52insGGGGCGCCC (n.904+51_905-52insGGGGCGCCC)
c.880+51_881-52insGGGGCGCCC (n.880+51_881-52insGGGGCGCCC)
c.889+51_890-52insGGGGCGCCC (n.889+51_890-52insGGGGCGCCC)
c.865+51_866-52insGGGGCGCCC (n.865+51_866-52insGGGGCGCCC)
c.877+51_878-52insGGGGCGCCC (n.877+51_878-52insGGGGCGCCC)
 gnomAD v4
1g.17000194_17000195insGGGGCCCCCCA2643676003ATP13A2c.907+51_908-52insGGGGGCCCC (n.907+51_908-52insGGGGGCCCC)
c.892+51_893-52insGGGGGCCCC (n.892+51_893-52insGGGGGCCCC)
n.515+51_516-52insGGGGGCCCC
n.46+51_47-52insGGGGGCCCC
c.67+51_68-52insGGGGGCCCC (n.67+51_68-52insGGGGGCCCC)
c.830+51_831-52insGGGGGCCCC
c.46+51_47-52insGGGGGCCCC (n.46+51_47-52insGGGGGCCCC)
c.904+51_905-52insGGGGGCCCC (n.904+51_905-52insGGGGGCCCC)
c.880+51_881-52insGGGGGCCCC (n.880+51_881-52insGGGGGCCCC)
c.889+51_890-52insGGGGGCCCC (n.889+51_890-52insGGGGGCCCC)
c.865+51_866-52insGGGGGCCCC (n.865+51_866-52insGGGGGCCCC)
c.877+51_878-52insGGGGGCCCC (n.877+51_878-52insGGGGGCCCC)
 gnomAD v4
1g.17000194_17000195insGGGGGCCCCCA2643676145ATP13A2c.907+51_908-52insGGGGCCCCC (n.907+51_908-52insGGGGCCCCC)
c.892+51_893-52insGGGGCCCCC (n.892+51_893-52insGGGGCCCCC)
n.515+51_516-52insGGGGCCCCC
n.46+51_47-52insGGGGCCCCC
c.67+51_68-52insGGGGCCCCC (n.67+51_68-52insGGGGCCCCC)
c.830+51_831-52insGGGGCCCCC
c.46+51_47-52insGGGGCCCCC (n.46+51_47-52insGGGGCCCCC)
c.904+51_905-52insGGGGCCCCC (n.904+51_905-52insGGGGCCCCC)
c.880+51_881-52insGGGGCCCCC (n.880+51_881-52insGGGGCCCCC)
c.889+51_890-52insGGGGCCCCC (n.889+51_890-52insGGGGCCCCC)
c.865+51_866-52insGGGGCCCCC (n.865+51_866-52insGGGGCCCCC)
c.877+51_878-52insGGGGCCCCC (n.877+51_878-52insGGGGCCCCC)
 gnomAD v4
1g.17000194_17000195insGGGGGCCGCCA2643676224ATP13A2c.907+51_908-52insGCGGCCCCC (n.907+51_908-52insGCGGCCCCC)
c.892+51_893-52insGCGGCCCCC (n.892+51_893-52insGCGGCCCCC)
n.515+51_516-52insGCGGCCCCC
n.46+51_47-52insGCGGCCCCC
c.67+51_68-52insGCGGCCCCC (n.67+51_68-52insGCGGCCCCC)
c.830+51_831-52insGCGGCCCCC
c.46+51_47-52insGCGGCCCCC (n.46+51_47-52insGCGGCCCCC)
c.904+51_905-52insGCGGCCCCC (n.904+51_905-52insGCGGCCCCC)
c.880+51_881-52insGCGGCCCCC (n.880+51_881-52insGCGGCCCCC)
c.889+51_890-52insGCGGCCCCC (n.889+51_890-52insGCGGCCCCC)
c.865+51_866-52insGCGGCCCCC (n.865+51_866-52insGCGGCCCCC)
c.877+51_878-52insGCGGCCCCC (n.877+51_878-52insGCGGCCCCC)
 gnomAD v4
1g.17000194_17000195insGGGGGGCCCCA2643676239ATP13A2c.907+51_908-52insGGGCCCCCC (n.907+51_908-52insGGGCCCCCC)
c.892+51_893-52insGGGCCCCCC (n.892+51_893-52insGGGCCCCCC)
n.515+51_516-52insGGGCCCCCC
n.46+51_47-52insGGGCCCCCC
c.67+51_68-52insGGGCCCCCC (n.67+51_68-52insGGGCCCCCC)
c.830+51_831-52insGGGCCCCCC
c.46+51_47-52insGGGCCCCCC (n.46+51_47-52insGGGCCCCCC)
c.904+51_905-52insGGGCCCCCC (n.904+51_905-52insGGGCCCCCC)
c.880+51_881-52insGGGCCCCCC (n.880+51_881-52insGGGCCCCCC)
c.889+51_890-52insGGGCCCCCC (n.889+51_890-52insGGGCCCCCC)
c.865+51_866-52insGGGCCCCCC (n.865+51_866-52insGGGCCCCCC)
c.877+51_878-52insGGGCCCCCC (n.877+51_878-52insGGGCCCCCC)
 gnomAD v4
1g.17000194_17000195insGGGGGGGCCCA2643676100ATP13A2c.907+51_908-52insGGCCCCCCC (n.907+51_908-52insGGCCCCCCC)
c.892+51_893-52insGGCCCCCCC (n.892+51_893-52insGGCCCCCCC)
n.515+51_516-52insGGCCCCCCC
n.46+51_47-52insGGCCCCCCC
c.67+51_68-52insGGCCCCCCC (n.67+51_68-52insGGCCCCCCC)
c.830+51_831-52insGGCCCCCCC
c.46+51_47-52insGGCCCCCCC (n.46+51_47-52insGGCCCCCCC)
c.904+51_905-52insGGCCCCCCC (n.904+51_905-52insGGCCCCCCC)
c.880+51_881-52insGGCCCCCCC (n.880+51_881-52insGGCCCCCCC)
c.889+51_890-52insGGCCCCCCC (n.889+51_890-52insGGCCCCCCC)
c.865+51_866-52insGGCCCCCCC (n.865+51_866-52insGGCCCCCCC)
c.877+51_878-52insGGCCCCCCC (n.877+51_878-52insGGCCCCCCC)
 gnomAD v4
1g.17000194_17000195insGGGGGGGGCCA2643676103ATP13A2c.907+51_908-52insGCCCCCCCC (n.907+51_908-52insGCCCCCCCC)
c.892+51_893-52insGCCCCCCCC (n.892+51_893-52insGCCCCCCCC)
n.515+51_516-52insGCCCCCCCC
n.46+51_47-52insGCCCCCCCC
c.67+51_68-52insGCCCCCCCC (n.67+51_68-52insGCCCCCCCC)
c.830+51_831-52insGCCCCCCCC
c.46+51_47-52insGCCCCCCCC (n.46+51_47-52insGCCCCCCCC)
c.904+51_905-52insGCCCCCCCC (n.904+51_905-52insGCCCCCCCC)
c.880+51_881-52insGCCCCCCCC (n.880+51_881-52insGCCCCCCCC)
c.889+51_890-52insGCCCCCCCC (n.889+51_890-52insGCCCCCCCC)
c.865+51_866-52insGCCCCCCCC (n.865+51_866-52insGCCCCCCCC)
c.877+51_878-52insGCCCCCCCC (n.877+51_878-52insGCCCCCCCC)
 gnomAD v4
1g.17000194_17000195insACCCCCCCCCCA2643676339ATP13A2c.907+51_908-52insGGGGGGGGGT (n.907+51_908-52insGGGGGGGGGT)
c.892+51_893-52insGGGGGGGGGT (n.892+51_893-52insGGGGGGGGGT)
n.515+51_516-52insGGGGGGGGGT
n.46+51_47-52insGGGGGGGGGT
c.67+51_68-52insGGGGGGGGGT (n.67+51_68-52insGGGGGGGGGT)
c.830+51_831-52insGGGGGGGGGT
c.46+51_47-52insGGGGGGGGGT (n.46+51_47-52insGGGGGGGGGT)
c.904+51_905-52insGGGGGGGGGT (n.904+51_905-52insGGGGGGGGGT)
c.880+51_881-52insGGGGGGGGGT (n.880+51_881-52insGGGGGGGGGT)
c.889+51_890-52insGGGGGGGGGT (n.889+51_890-52insGGGGGGGGGT)
c.865+51_866-52insGGGGGGGGGT (n.865+51_866-52insGGGGGGGGGT)
c.877+51_878-52insGGGGGGGGGT (n.877+51_878-52insGGGGGGGGGT)
 gnomAD v4
1g.17000194_17000195insGCCCCCCCCCCA999067173ATP13A2c.907+51_908-52insGGGGGGGGGC (n.907+51_908-52insGGGGGGGGGC)
c.892+51_893-52insGGGGGGGGGC (n.892+51_893-52insGGGGGGGGGC)
n.515+51_516-52insGGGGGGGGGC
n.46+51_47-52insGGGGGGGGGC
c.67+51_68-52insGGGGGGGGGC (n.67+51_68-52insGGGGGGGGGC)
c.830+51_831-52insGGGGGGGGGC
c.46+51_47-52insGGGGGGGGGC (n.46+51_47-52insGGGGGGGGGC)
c.904+51_905-52insGGGGGGGGGC (n.904+51_905-52insGGGGGGGGGC)
c.880+51_881-52insGGGGGGGGGC (n.880+51_881-52insGGGGGGGGGC)
c.889+51_890-52insGGGGGGGGGC (n.889+51_890-52insGGGGGGGGGC)
c.865+51_866-52insGGGGGGGGGC (n.865+51_866-52insGGGGGGGGGC)
c.877+51_878-52insGGGGGGGGGC (n.877+51_878-52insGGGGGGGGGC)
 gnomAD v3 gnomAD v4
1g.17000194_17000195insGGCCCCCCCCCA2643676437ATP13A2c.907+51_908-52insGGGGGGGGCC (n.907+51_908-52insGGGGGGGGCC)
c.892+51_893-52insGGGGGGGGCC (n.892+51_893-52insGGGGGGGGCC)
n.515+51_516-52insGGGGGGGGCC
n.46+51_47-52insGGGGGGGGCC
c.67+51_68-52insGGGGGGGGCC (n.67+51_68-52insGGGGGGGGCC)
c.830+51_831-52insGGGGGGGGCC
c.46+51_47-52insGGGGGGGGCC (n.46+51_47-52insGGGGGGGGCC)
c.904+51_905-52insGGGGGGGGCC (n.904+51_905-52insGGGGGGGGCC)
c.880+51_881-52insGGGGGGGGCC (n.880+51_881-52insGGGGGGGGCC)
c.889+51_890-52insGGGGGGGGCC (n.889+51_890-52insGGGGGGGGCC)
c.865+51_866-52insGGGGGGGGCC (n.865+51_866-52insGGGGGGGGCC)
c.877+51_878-52insGGGGGGGGCC (n.877+51_878-52insGGGGGGGGCC)
 gnomAD v4
1g.17000194_17000195insGGGCCCCCCCCA2593546163ATP13A2c.907+51_908-52insGGGGGGGCCC (n.907+51_908-52insGGGGGGGCCC)
c.892+51_893-52insGGGGGGGCCC (n.892+51_893-52insGGGGGGGCCC)
n.515+51_516-52insGGGGGGGCCC
n.46+51_47-52insGGGGGGGCCC
c.67+51_68-52insGGGGGGGCCC (n.67+51_68-52insGGGGGGGCCC)
c.830+51_831-52insGGGGGGGCCC
c.46+51_47-52insGGGGGGGCCC (n.46+51_47-52insGGGGGGGCCC)
c.904+51_905-52insGGGGGGGCCC (n.904+51_905-52insGGGGGGGCCC)
c.880+51_881-52insGGGGGGGCCC (n.880+51_881-52insGGGGGGGCCC)
c.889+51_890-52insGGGGGGGCCC (n.889+51_890-52insGGGGGGGCCC)
c.865+51_866-52insGGGGGGGCCC (n.865+51_866-52insGGGGGGGCCC)
c.877+51_878-52insGGGGGGGCCC (n.877+51_878-52insGGGGGGGCCC)
 gnomAD v3 gnomAD v4
1g.17000194_17000195insGGGGCCCCCCCA2643676004ATP13A2c.907+51_908-52insGGGGGGCCCC (n.907+51_908-52insGGGGGGCCCC)
c.892+51_893-52insGGGGGGCCCC (n.892+51_893-52insGGGGGGCCCC)
n.515+51_516-52insGGGGGGCCCC
n.46+51_47-52insGGGGGGCCCC
c.67+51_68-52insGGGGGGCCCC (n.67+51_68-52insGGGGGGCCCC)
c.830+51_831-52insGGGGGGCCCC
c.46+51_47-52insGGGGGGCCCC (n.46+51_47-52insGGGGGGCCCC)
c.904+51_905-52insGGGGGGCCCC (n.904+51_905-52insGGGGGGCCCC)
c.880+51_881-52insGGGGGGCCCC (n.880+51_881-52insGGGGGGCCCC)
c.889+51_890-52insGGGGGGCCCC (n.889+51_890-52insGGGGGGCCCC)
c.865+51_866-52insGGGGGGCCCC (n.865+51_866-52insGGGGGGCCCC)
c.877+51_878-52insGGGGGGCCCC (n.877+51_878-52insGGGGGGCCCC)
 gnomAD v4
1g.17000194_17000195insGGGGGCCCCCCA2643676208ATP13A2c.907+51_908-52insGGGGGCCCCC (n.907+51_908-52insGGGGGCCCCC)
c.892+51_893-52insGGGGGCCCCC (n.892+51_893-52insGGGGGCCCCC)
n.515+51_516-52insGGGGGCCCCC
n.46+51_47-52insGGGGGCCCCC
c.67+51_68-52insGGGGGCCCCC (n.67+51_68-52insGGGGGCCCCC)
c.830+51_831-52insGGGGGCCCCC
c.46+51_47-52insGGGGGCCCCC (n.46+51_47-52insGGGGGCCCCC)
c.904+51_905-52insGGGGGCCCCC (n.904+51_905-52insGGGGGCCCCC)
c.880+51_881-52insGGGGGCCCCC (n.880+51_881-52insGGGGGCCCCC)
c.889+51_890-52insGGGGGCCCCC (n.889+51_890-52insGGGGGCCCCC)
c.865+51_866-52insGGGGGCCCCC (n.865+51_866-52insGGGGGCCCCC)
c.877+51_878-52insGGGGGCCCCC (n.877+51_878-52insGGGGGCCCCC)
 gnomAD v4
1g.17000194_17000195insGGGGGGCCCCCA2643676122ATP13A2c.907+51_908-52insGGGGCCCCCC (n.907+51_908-52insGGGGCCCCCC)
c.892+51_893-52insGGGGCCCCCC (n.892+51_893-52insGGGGCCCCCC)
n.515+51_516-52insGGGGCCCCCC
n.46+51_47-52insGGGGCCCCCC
c.67+51_68-52insGGGGCCCCCC (n.67+51_68-52insGGGGCCCCCC)
c.830+51_831-52insGGGGCCCCCC
c.46+51_47-52insGGGGCCCCCC (n.46+51_47-52insGGGGCCCCCC)
c.904+51_905-52insGGGGCCCCCC (n.904+51_905-52insGGGGCCCCCC)
c.880+51_881-52insGGGGCCCCCC (n.880+51_881-52insGGGGCCCCCC)
c.889+51_890-52insGGGGCCCCCC (n.889+51_890-52insGGGGCCCCCC)
c.865+51_866-52insGGGGCCCCCC (n.865+51_866-52insGGGGCCCCCC)
c.877+51_878-52insGGGGCCCCCC (n.877+51_878-52insGGGGCCCCCC)
 gnomAD v4
1g.17000194_17000195insGCCCCCCCCCCCA999067175ATP13A2c.907+51_908-52insGGGGGGGGGGC (n.907+51_908-52insGGGGGGGGGGC)
c.892+51_893-52insGGGGGGGGGGC (n.892+51_893-52insGGGGGGGGGGC)
n.515+51_516-52insGGGGGGGGGGC
n.46+51_47-52insGGGGGGGGGGC
c.67+51_68-52insGGGGGGGGGGC (n.67+51_68-52insGGGGGGGGGGC)
c.830+51_831-52insGGGGGGGGGGC
c.46+51_47-52insGGGGGGGGGGC (n.46+51_47-52insGGGGGGGGGGC)
c.904+51_905-52insGGGGGGGGGGC (n.904+51_905-52insGGGGGGGGGGC)
c.880+51_881-52insGGGGGGGGGGC (n.880+51_881-52insGGGGGGGGGGC)
c.889+51_890-52insGGGGGGGGGGC (n.889+51_890-52insGGGGGGGGGGC)
c.865+51_866-52insGGGGGGGGGGC (n.865+51_866-52insGGGGGGGGGGC)
c.877+51_878-52insGGGGGGGGGGC (n.877+51_878-52insGGGGGGGGGGC)
 gnomAD v3 gnomAD v4
1g.17000194_17000195insGGCCCCCCCCCCA2593546167ATP13A2c.907+51_908-52insGGGGGGGGGCC (n.907+51_908-52insGGGGGGGGGCC)
c.892+51_893-52insGGGGGGGGGCC (n.892+51_893-52insGGGGGGGGGCC)
n.515+51_516-52insGGGGGGGGGCC
n.46+51_47-52insGGGGGGGGGCC
c.67+51_68-52insGGGGGGGGGCC (n.67+51_68-52insGGGGGGGGGCC)
c.830+51_831-52insGGGGGGGGGCC
c.46+51_47-52insGGGGGGGGGCC (n.46+51_47-52insGGGGGGGGGCC)
c.904+51_905-52insGGGGGGGGGCC (n.904+51_905-52insGGGGGGGGGCC)
c.880+51_881-52insGGGGGGGGGCC (n.880+51_881-52insGGGGGGGGGCC)
c.889+51_890-52insGGGGGGGGGCC (n.889+51_890-52insGGGGGGGGGCC)
c.865+51_866-52insGGGGGGGGGCC (n.865+51_866-52insGGGGGGGGGCC)
c.877+51_878-52insGGGGGGGGGCC (n.877+51_878-52insGGGGGGGGGCC)
 gnomAD v3 gnomAD v4
1g.17000194_17000195insGGGCCCCCCCCCA2593546161ATP13A2c.907+51_908-52insGGGGGGGGCCC (n.907+51_908-52insGGGGGGGGCCC)
c.892+51_893-52insGGGGGGGGCCC (n.892+51_893-52insGGGGGGGGCCC)
n.515+51_516-52insGGGGGGGGCCC
n.46+51_47-52insGGGGGGGGCCC
c.67+51_68-52insGGGGGGGGCCC (n.67+51_68-52insGGGGGGGGCCC)
c.830+51_831-52insGGGGGGGGCCC
c.46+51_47-52insGGGGGGGGCCC (n.46+51_47-52insGGGGGGGGCCC)
c.904+51_905-52insGGGGGGGGCCC (n.904+51_905-52insGGGGGGGGCCC)
c.880+51_881-52insGGGGGGGGCCC (n.880+51_881-52insGGGGGGGGCCC)
c.889+51_890-52insGGGGGGGGCCC (n.889+51_890-52insGGGGGGGGCCC)
c.865+51_866-52insGGGGGGGGCCC (n.865+51_866-52insGGGGGGGGCCC)
c.877+51_878-52insGGGGGGGGCCC (n.877+51_878-52insGGGGGGGGCCC)
 gnomAD v3 gnomAD v4
1g.17000194_17000195insGGGGCCCCCCCCA2643676011ATP13A2c.907+51_908-52insGGGGGGGCCCC (n.907+51_908-52insGGGGGGGCCCC)
c.892+51_893-52insGGGGGGGCCCC (n.892+51_893-52insGGGGGGGCCCC)
n.515+51_516-52insGGGGGGGCCCC
n.46+51_47-52insGGGGGGGCCCC
c.67+51_68-52insGGGGGGGCCCC (n.67+51_68-52insGGGGGGGCCCC)
c.830+51_831-52insGGGGGGGCCCC
c.46+51_47-52insGGGGGGGCCCC (n.46+51_47-52insGGGGGGGCCCC)
c.904+51_905-52insGGGGGGGCCCC (n.904+51_905-52insGGGGGGGCCCC)
c.880+51_881-52insGGGGGGGCCCC (n.880+51_881-52insGGGGGGGCCCC)
c.889+51_890-52insGGGGGGGCCCC (n.889+51_890-52insGGGGGGGCCCC)
c.865+51_866-52insGGGGGGGCCCC (n.865+51_866-52insGGGGGGGCCCC)
c.877+51_878-52insGGGGGGGCCCC (n.877+51_878-52insGGGGGGGCCCC)
 gnomAD v4
1g.17000194_17000195insGGGGGCCCCCCCA2643676211ATP13A2c.907+51_908-52insGGGGGGCCCCC (n.907+51_908-52insGGGGGGCCCCC)
c.892+51_893-52insGGGGGGCCCCC (n.892+51_893-52insGGGGGGCCCCC)
n.515+51_516-52insGGGGGGCCCCC
n.46+51_47-52insGGGGGGCCCCC
c.67+51_68-52insGGGGGGCCCCC (n.67+51_68-52insGGGGGGCCCCC)
c.830+51_831-52insGGGGGGCCCCC
c.46+51_47-52insGGGGGGCCCCC (n.46+51_47-52insGGGGGGCCCCC)
c.904+51_905-52insGGGGGGCCCCC (n.904+51_905-52insGGGGGGCCCCC)
c.880+51_881-52insGGGGGGCCCCC (n.880+51_881-52insGGGGGGCCCCC)
c.889+51_890-52insGGGGGGCCCCC (n.889+51_890-52insGGGGGGCCCCC)
c.865+51_866-52insGGGGGGCCCCC (n.865+51_866-52insGGGGGGCCCCC)
c.877+51_878-52insGGGGGGCCCCC (n.877+51_878-52insGGGGGGCCCCC)
 gnomAD v4
1g.17000194_17000195insGCCCCCCCCCCCCA999067158ATP13A2c.907+51_908-52insGGGGGGGGGGGC (n.907+51_908-52insGGGGGGGGGGGC)
c.892+51_893-52insGGGGGGGGGGGC (n.892+51_893-52insGGGGGGGGGGGC)
n.515+51_516-52insGGGGGGGGGGGC
n.46+51_47-52insGGGGGGGGGGGC
c.67+51_68-52insGGGGGGGGGGGC (n.67+51_68-52insGGGGGGGGGGGC)
c.830+51_831-52insGGGGGGGGGGGC
c.46+51_47-52insGGGGGGGGGGGC (n.46+51_47-52insGGGGGGGGGGGC)
c.904+51_905-52insGGGGGGGGGGGC (n.904+51_905-52insGGGGGGGGGGGC)
c.880+51_881-52insGGGGGGGGGGGC (n.880+51_881-52insGGGGGGGGGGGC)
c.889+51_890-52insGGGGGGGGGGGC (n.889+51_890-52insGGGGGGGGGGGC)
c.865+51_866-52insGGGGGGGGGGGC (n.865+51_866-52insGGGGGGGGGGGC)
c.877+51_878-52insGGGGGGGGGGGC (n.877+51_878-52insGGGGGGGGGGGC)
 gnomAD v3 gnomAD v4
1g.17000194_17000195insGGCCCCCCCCCCCA2593546166ATP13A2c.907+51_908-52insGGGGGGGGGGCC (n.907+51_908-52insGGGGGGGGGGCC)
c.892+51_893-52insGGGGGGGGGGCC (n.892+51_893-52insGGGGGGGGGGCC)
n.515+51_516-52insGGGGGGGGGGCC
n.46+51_47-52insGGGGGGGGGGCC
c.67+51_68-52insGGGGGGGGGGCC (n.67+51_68-52insGGGGGGGGGGCC)
c.830+51_831-52insGGGGGGGGGGCC
c.46+51_47-52insGGGGGGGGGGCC (n.46+51_47-52insGGGGGGGGGGCC)
c.904+51_905-52insGGGGGGGGGGCC (n.904+51_905-52insGGGGGGGGGGCC)
c.880+51_881-52insGGGGGGGGGGCC (n.880+51_881-52insGGGGGGGGGGCC)
c.889+51_890-52insGGGGGGGGGGCC (n.889+51_890-52insGGGGGGGGGGCC)
c.865+51_866-52insGGGGGGGGGGCC (n.865+51_866-52insGGGGGGGGGGCC)
c.877+51_878-52insGGGGGGGGGGCC (n.877+51_878-52insGGGGGGGGGGCC)
 gnomAD v3 gnomAD v4
1g.17000194_17000195insGGGCCCCCCCCCCA2593546168ATP13A2c.907+51_908-52insGGGGGGGGGCCC (n.907+51_908-52insGGGGGGGGGCCC)
c.892+51_893-52insGGGGGGGGGCCC (n.892+51_893-52insGGGGGGGGGCCC)
n.515+51_516-52insGGGGGGGGGCCC
n.46+51_47-52insGGGGGGGGGCCC
c.67+51_68-52insGGGGGGGGGCCC (n.67+51_68-52insGGGGGGGGGCCC)
c.830+51_831-52insGGGGGGGGGCCC
c.46+51_47-52insGGGGGGGGGCCC (n.46+51_47-52insGGGGGGGGGCCC)
c.904+51_905-52insGGGGGGGGGCCC (n.904+51_905-52insGGGGGGGGGCCC)
c.880+51_881-52insGGGGGGGGGCCC (n.880+51_881-52insGGGGGGGGGCCC)
c.889+51_890-52insGGGGGGGGGCCC (n.889+51_890-52insGGGGGGGGGCCC)
c.865+51_866-52insGGGGGGGGGCCC (n.865+51_866-52insGGGGGGGGGCCC)
c.877+51_878-52insGGGGGGGGGCCC (n.877+51_878-52insGGGGGGGGGCCC)
 gnomAD v3 gnomAD v4
1g.17000194_17000195insGGGGCCCCCCCCCA2643676015ATP13A2c.907+51_908-52insGGGGGGGGCCCC (n.907+51_908-52insGGGGGGGGCCCC)
c.892+51_893-52insGGGGGGGGCCCC (n.892+51_893-52insGGGGGGGGCCCC)
n.515+51_516-52insGGGGGGGGCCCC
n.46+51_47-52insGGGGGGGGCCCC
c.67+51_68-52insGGGGGGGGCCCC (n.67+51_68-52insGGGGGGGGCCCC)
c.830+51_831-52insGGGGGGGGCCCC
c.46+51_47-52insGGGGGGGGCCCC (n.46+51_47-52insGGGGGGGGCCCC)
c.904+51_905-52insGGGGGGGGCCCC (n.904+51_905-52insGGGGGGGGCCCC)
c.880+51_881-52insGGGGGGGGCCCC (n.880+51_881-52insGGGGGGGGCCCC)
c.889+51_890-52insGGGGGGGGCCCC (n.889+51_890-52insGGGGGGGGCCCC)
c.865+51_866-52insGGGGGGGGCCCC (n.865+51_866-52insGGGGGGGGCCCC)
c.877+51_878-52insGGGGGGGGCCCC (n.877+51_878-52insGGGGGGGGCCCC)
 gnomAD v4
1g.17000194_17000195insGGGGGCCCCCCCCA2643676214ATP13A2c.907+51_908-52insGGGGGGGCCCCC (n.907+51_908-52insGGGGGGGCCCCC)
c.892+51_893-52insGGGGGGGCCCCC (n.892+51_893-52insGGGGGGGCCCCC)
n.515+51_516-52insGGGGGGGCCCCC
n.46+51_47-52insGGGGGGGCCCCC
c.67+51_68-52insGGGGGGGCCCCC (n.67+51_68-52insGGGGGGGCCCCC)
c.830+51_831-52insGGGGGGGCCCCC
c.46+51_47-52insGGGGGGGCCCCC (n.46+51_47-52insGGGGGGGCCCCC)
c.904+51_905-52insGGGGGGGCCCCC (n.904+51_905-52insGGGGGGGCCCCC)
c.880+51_881-52insGGGGGGGCCCCC (n.880+51_881-52insGGGGGGGCCCCC)
c.889+51_890-52insGGGGGGGCCCCC (n.889+51_890-52insGGGGGGGCCCCC)
c.865+51_866-52insGGGGGGGCCCCC (n.865+51_866-52insGGGGGGGCCCCC)
c.877+51_878-52insGGGGGGGCCCCC (n.877+51_878-52insGGGGGGGCCCCC)
 gnomAD v4
1g.17000194_17000195insGGCCCCCCCCCCCCA2643676445ATP13A2c.907+51_908-52insGGGGGGGGGGGCC (n.907+51_908-52insGGGGGGGGGGGCC)
c.892+51_893-52insGGGGGGGGGGGCC (n.892+51_893-52insGGGGGGGGGGGCC)
n.515+51_516-52insGGGGGGGGGGGCC
n.46+51_47-52insGGGGGGGGGGGCC
c.67+51_68-52insGGGGGGGGGGGCC (n.67+51_68-52insGGGGGGGGGGGCC)
c.830+51_831-52insGGGGGGGGGGGCC
c.46+51_47-52insGGGGGGGGGGGCC (n.46+51_47-52insGGGGGGGGGGGCC)
c.904+51_905-52insGGGGGGGGGGGCC (n.904+51_905-52insGGGGGGGGGGGCC)
c.880+51_881-52insGGGGGGGGGGGCC (n.880+51_881-52insGGGGGGGGGGGCC)
c.889+51_890-52insGGGGGGGGGGGCC (n.889+51_890-52insGGGGGGGGGGGCC)
c.865+51_866-52insGGGGGGGGGGGCC (n.865+51_866-52insGGGGGGGGGGGCC)
c.877+51_878-52insGGGGGGGGGGGCC (n.877+51_878-52insGGGGGGGGGGGCC)
 gnomAD v4
1g.17000194_17000195insGGGCCCCCCCCCCCA2593546169ATP13A2c.907+51_908-52insGGGGGGGGGGCCC (n.907+51_908-52insGGGGGGGGGGCCC)
c.892+51_893-52insGGGGGGGGGGCCC (n.892+51_893-52insGGGGGGGGGGCCC)
n.515+51_516-52insGGGGGGGGGGCCC
n.46+51_47-52insGGGGGGGGGGCCC
c.67+51_68-52insGGGGGGGGGGCCC (n.67+51_68-52insGGGGGGGGGGCCC)
c.830+51_831-52insGGGGGGGGGGCCC
c.46+51_47-52insGGGGGGGGGGCCC (n.46+51_47-52insGGGGGGGGGGCCC)
c.904+51_905-52insGGGGGGGGGGCCC (n.904+51_905-52insGGGGGGGGGGCCC)
c.880+51_881-52insGGGGGGGGGGCCC (n.880+51_881-52insGGGGGGGGGGCCC)
c.889+51_890-52insGGGGGGGGGGCCC (n.889+51_890-52insGGGGGGGGGGCCC)
c.865+51_866-52insGGGGGGGGGGCCC (n.865+51_866-52insGGGGGGGGGGCCC)
c.877+51_878-52insGGGGGGGGGGCCC (n.877+51_878-52insGGGGGGGGGGCCC)
 gnomAD v3 gnomAD v4
1g.17000194_17000195insGGGGCCCCCCCCCCA2643675998ATP13A2c.907+51_908-52insGGGGGGGGGCCCC (n.907+51_908-52insGGGGGGGGGCCCC)
c.892+51_893-52insGGGGGGGGGCCCC (n.892+51_893-52insGGGGGGGGGCCCC)
n.515+51_516-52insGGGGGGGGGCCCC
n.46+51_47-52insGGGGGGGGGCCCC
c.67+51_68-52insGGGGGGGGGCCCC (n.67+51_68-52insGGGGGGGGGCCCC)
c.830+51_831-52insGGGGGGGGGCCCC
c.46+51_47-52insGGGGGGGGGCCCC (n.46+51_47-52insGGGGGGGGGCCCC)
c.904+51_905-52insGGGGGGGGGCCCC (n.904+51_905-52insGGGGGGGGGCCCC)
c.880+51_881-52insGGGGGGGGGCCCC (n.880+51_881-52insGGGGGGGGGCCCC)
c.889+51_890-52insGGGGGGGGGCCCC (n.889+51_890-52insGGGGGGGGGCCCC)
c.865+51_866-52insGGGGGGGGGCCCC (n.865+51_866-52insGGGGGGGGGCCCC)
c.877+51_878-52insGGGGGGGGGCCCC (n.877+51_878-52insGGGGGGGGGCCCC)
 gnomAD v4
1g.17000194_17000195insGGCCCCCCCCCCCCCA2643676450ATP13A2c.907+51_908-52insGGGGGGGGGGGGCC (n.907+51_908-52insGGGGGGGGGGGGCC)
c.892+51_893-52insGGGGGGGGGGGGCC (n.892+51_893-52insGGGGGGGGGGGGCC)
n.515+51_516-52insGGGGGGGGGGGGCC
n.46+51_47-52insGGGGGGGGGGGGCC
c.67+51_68-52insGGGGGGGGGGGGCC (n.67+51_68-52insGGGGGGGGGGGGCC)
c.830+51_831-52insGGGGGGGGGGGGCC
c.46+51_47-52insGGGGGGGGGGGGCC (n.46+51_47-52insGGGGGGGGGGGGCC)
c.904+51_905-52insGGGGGGGGGGGGCC (n.904+51_905-52insGGGGGGGGGGGGCC)
c.880+51_881-52insGGGGGGGGGGGGCC (n.880+51_881-52insGGGGGGGGGGGGCC)
c.889+51_890-52insGGGGGGGGGGGGCC (n.889+51_890-52insGGGGGGGGGGGGCC)
c.865+51_866-52insGGGGGGGGGGGGCC (n.865+51_866-52insGGGGGGGGGGGGCC)
c.877+51_878-52insGGGGGGGGGGGGCC (n.877+51_878-52insGGGGGGGGGGGGCC)
 gnomAD v4
1g.17000194_17000195insGGGCCCCCCCCCCCCA2643676079ATP13A2c.907+51_908-52insGGGGGGGGGGGCCC (n.907+51_908-52insGGGGGGGGGGGCCC)
c.892+51_893-52insGGGGGGGGGGGCCC (n.892+51_893-52insGGGGGGGGGGGCCC)
n.515+51_516-52insGGGGGGGGGGGCCC
n.46+51_47-52insGGGGGGGGGGGCCC
c.67+51_68-52insGGGGGGGGGGGCCC (n.67+51_68-52insGGGGGGGGGGGCCC)
c.830+51_831-52insGGGGGGGGGGGCCC
c.46+51_47-52insGGGGGGGGGGGCCC (n.46+51_47-52insGGGGGGGGGGGCCC)
c.904+51_905-52insGGGGGGGGGGGCCC (n.904+51_905-52insGGGGGGGGGGGCCC)
c.880+51_881-52insGGGGGGGGGGGCCC (n.880+51_881-52insGGGGGGGGGGGCCC)
c.889+51_890-52insGGGGGGGGGGGCCC (n.889+51_890-52insGGGGGGGGGGGCCC)
c.865+51_866-52insGGGGGGGGGGGCCC (n.865+51_866-52insGGGGGGGGGGGCCC)
c.877+51_878-52insGGGGGGGGGGGCCC (n.877+51_878-52insGGGGGGGGGGGCCC)
 gnomAD v4
1g.17000194_17000195insGGGGCCCCCCCCCCCA2643676197ATP13A2c.907+51_908-52insGGGGGGGGGGCCCC (n.907+51_908-52insGGGGGGGGGGCCCC)
c.892+51_893-52insGGGGGGGGGGCCCC (n.892+51_893-52insGGGGGGGGGGCCCC)
n.515+51_516-52insGGGGGGGGGGCCCC
n.46+51_47-52insGGGGGGGGGGCCCC
c.67+51_68-52insGGGGGGGGGGCCCC (n.67+51_68-52insGGGGGGGGGGCCCC)
c.830+51_831-52insGGGGGGGGGGCCCC
c.46+51_47-52insGGGGGGGGGGCCCC (n.46+51_47-52insGGGGGGGGGGCCCC)
c.904+51_905-52insGGGGGGGGGGCCCC (n.904+51_905-52insGGGGGGGGGGCCCC)
c.880+51_881-52insGGGGGGGGGGCCCC (n.880+51_881-52insGGGGGGGGGGCCCC)
c.889+51_890-52insGGGGGGGGGGCCCC (n.889+51_890-52insGGGGGGGGGGCCCC)
c.865+51_866-52insGGGGGGGGGGCCCC (n.865+51_866-52insGGGGGGGGGGCCCC)
c.877+51_878-52insGGGGGGGGGGCCCC (n.877+51_878-52insGGGGGGGGGGCCCC)
 gnomAD v4
1g.17000194_17000195insGGGGGGCCCCCCCCCA2643676084ATP13A2c.907+51_908-52insGGGGGGGGCCCCCC (n.907+51_908-52insGGGGGGGGCCCCCC)
c.892+51_893-52insGGGGGGGGCCCCCC (n.892+51_893-52insGGGGGGGGCCCCCC)
n.515+51_516-52insGGGGGGGGCCCCCC
n.46+51_47-52insGGGGGGGGCCCCCC
c.67+51_68-52insGGGGGGGGCCCCCC (n.67+51_68-52insGGGGGGGGCCCCCC)
c.830+51_831-52insGGGGGGGGCCCCCC
c.46+51_47-52insGGGGGGGGCCCCCC (n.46+51_47-52insGGGGGGGGCCCCCC)
c.904+51_905-52insGGGGGGGGCCCCCC (n.904+51_905-52insGGGGGGGGCCCCCC)
c.880+51_881-52insGGGGGGGGCCCCCC (n.880+51_881-52insGGGGGGGGCCCCCC)
c.889+51_890-52insGGGGGGGGCCCCCC (n.889+51_890-52insGGGGGGGGCCCCCC)
c.865+51_866-52insGGGGGGGGCCCCCC (n.865+51_866-52insGGGGGGGGCCCCCC)
c.877+51_878-52insGGGGGGGGCCCCCC (n.877+51_878-52insGGGGGGGGCCCCCC)
 gnomAD v4
1g.17000194_17000195insGCCCCCCCCCCCCCCCA2643676479ATP13A2c.907+51_908-52insGGGGGGGGGGGGGGC (n.907+51_908-52insGGGGGGGGGGGGGGC)
c.892+51_893-52insGGGGGGGGGGGGGGC (n.892+51_893-52insGGGGGGGGGGGGGGC)
n.515+51_516-52insGGGGGGGGGGGGGGC
n.46+51_47-52insGGGGGGGGGGGGGGC
c.67+51_68-52insGGGGGGGGGGGGGGC (n.67+51_68-52insGGGGGGGGGGGGGGC)
c.830+51_831-52insGGGGGGGGGGGGGGC
c.46+51_47-52insGGGGGGGGGGGGGGC (n.46+51_47-52insGGGGGGGGGGGGGGC)
c.904+51_905-52insGGGGGGGGGGGGGGC (n.904+51_905-52insGGGGGGGGGGGGGGC)
c.880+51_881-52insGGGGGGGGGGGGGGC (n.880+51_881-52insGGGGGGGGGGGGGGC)
c.889+51_890-52insGGGGGGGGGGGGGGC (n.889+51_890-52insGGGGGGGGGGGGGGC)
c.865+51_866-52insGGGGGGGGGGGGGGC (n.865+51_866-52insGGGGGGGGGGGGGGC)
c.877+51_878-52insGGGGGGGGGGGGGGC (n.877+51_878-52insGGGGGGGGGGGGGGC)
 gnomAD v4
1g.17000194_17000195insGGCCCCCCCCCCCCCCA2643676453ATP13A2c.907+51_908-52insGGGGGGGGGGGGGCC (n.907+51_908-52insGGGGGGGGGGGGGCC)
c.892+51_893-52insGGGGGGGGGGGGGCC (n.892+51_893-52insGGGGGGGGGGGGGCC)
n.515+51_516-52insGGGGGGGGGGGGGCC
n.46+51_47-52insGGGGGGGGGGGGGCC
c.67+51_68-52insGGGGGGGGGGGGGCC (n.67+51_68-52insGGGGGGGGGGGGGCC)
c.830+51_831-52insGGGGGGGGGGGGGCC
c.46+51_47-52insGGGGGGGGGGGGGCC (n.46+51_47-52insGGGGGGGGGGGGGCC)
c.904+51_905-52insGGGGGGGGGGGGGCC (n.904+51_905-52insGGGGGGGGGGGGGCC)
c.880+51_881-52insGGGGGGGGGGGGGCC (n.880+51_881-52insGGGGGGGGGGGGGCC)
c.889+51_890-52insGGGGGGGGGGGGGCC (n.889+51_890-52insGGGGGGGGGGGGGCC)
c.865+51_866-52insGGGGGGGGGGGGGCC (n.865+51_866-52insGGGGGGGGGGGGGCC)
c.877+51_878-52insGGGGGGGGGGGGGCC (n.877+51_878-52insGGGGGGGGGGGGGCC)
 gnomAD v4
1g.17000194_17000195insGGGCCCCCCCCCCCCCA2643676054ATP13A2c.907+51_908-52insGGGGGGGGGGGGCCC (n.907+51_908-52insGGGGGGGGGGGGCCC)
c.892+51_893-52insGGGGGGGGGGGGCCC (n.892+51_893-52insGGGGGGGGGGGGCCC)
n.515+51_516-52insGGGGGGGGGGGGCCC
n.46+51_47-52insGGGGGGGGGGGGCCC
c.67+51_68-52insGGGGGGGGGGGGCCC (n.67+51_68-52insGGGGGGGGGGGGCCC)
c.830+51_831-52insGGGGGGGGGGGGCCC
c.46+51_47-52insGGGGGGGGGGGGCCC (n.46+51_47-52insGGGGGGGGGGGGCCC)
c.904+51_905-52insGGGGGGGGGGGGCCC (n.904+51_905-52insGGGGGGGGGGGGCCC)
c.880+51_881-52insGGGGGGGGGGGGCCC (n.880+51_881-52insGGGGGGGGGGGGCCC)
c.889+51_890-52insGGGGGGGGGGGGCCC (n.889+51_890-52insGGGGGGGGGGGGCCC)
c.865+51_866-52insGGGGGGGGGGGGCCC (n.865+51_866-52insGGGGGGGGGGGGCCC)
c.877+51_878-52insGGGGGGGGGGGGCCC (n.877+51_878-52insGGGGGGGGGGGGCCC)
 gnomAD v4
1g.17000194_17000195insGGGGGGCCCCCCCCCCA2643676089ATP13A2c.907+51_908-52insGGGGGGGGGCCCCCC (n.907+51_908-52insGGGGGGGGGCCCCCC)
c.892+51_893-52insGGGGGGGGGCCCCCC (n.892+51_893-52insGGGGGGGGGCCCCCC)
n.515+51_516-52insGGGGGGGGGCCCCCC
n.46+51_47-52insGGGGGGGGGCCCCCC
c.67+51_68-52insGGGGGGGGGCCCCCC (n.67+51_68-52insGGGGGGGGGCCCCCC)
c.830+51_831-52insGGGGGGGGGCCCCCC
c.46+51_47-52insGGGGGGGGGCCCCCC (n.46+51_47-52insGGGGGGGGGCCCCCC)
c.904+51_905-52insGGGGGGGGGCCCCCC (n.904+51_905-52insGGGGGGGGGCCCCCC)
c.880+51_881-52insGGGGGGGGGCCCCCC (n.880+51_881-52insGGGGGGGGGCCCCCC)
c.889+51_890-52insGGGGGGGGGCCCCCC (n.889+51_890-52insGGGGGGGGGCCCCCC)
c.865+51_866-52insGGGGGGGGGCCCCCC (n.865+51_866-52insGGGGGGGGGCCCCCC)
c.877+51_878-52insGGGGGGGGGCCCCCC (n.877+51_878-52insGGGGGGGGGCCCCCC)
 gnomAD v4
1g.17000194_17000195insGCCCCCCCCCCCCCCCCA2643676411ATP13A2c.907+51_908-52insGGGGGGGGGGGGGGGC (n.907+51_908-52insGGGGGGGGGGGGGGGC)
c.892+51_893-52insGGGGGGGGGGGGGGGC (n.892+51_893-52insGGGGGGGGGGGGGGGC)
n.515+51_516-52insGGGGGGGGGGGGGGGC
n.46+51_47-52insGGGGGGGGGGGGGGGC
c.67+51_68-52insGGGGGGGGGGGGGGGC (n.67+51_68-52insGGGGGGGGGGGGGGGC)
c.830+51_831-52insGGGGGGGGGGGGGGGC
c.46+51_47-52insGGGGGGGGGGGGGGGC (n.46+51_47-52insGGGGGGGGGGGGGGGC)
c.904+51_905-52insGGGGGGGGGGGGGGGC (n.904+51_905-52insGGGGGGGGGGGGGGGC)
c.880+51_881-52insGGGGGGGGGGGGGGGC (n.880+51_881-52insGGGGGGGGGGGGGGGC)
c.889+51_890-52insGGGGGGGGGGGGGGGC (n.889+51_890-52insGGGGGGGGGGGGGGGC)
c.865+51_866-52insGGGGGGGGGGGGGGGC (n.865+51_866-52insGGGGGGGGGGGGGGGC)
c.877+51_878-52insGGGGGGGGGGGGGGGC (n.877+51_878-52insGGGGGGGGGGGGGGGC)
 gnomAD v4
1g.17000194_17000195insGGCCCCCCCCCCCCCCCA2643676384ATP13A2c.907+51_908-52insGGGGGGGGGGGGGGCC (n.907+51_908-52insGGGGGGGGGGGGGGCC)
c.892+51_893-52insGGGGGGGGGGGGGGCC (n.892+51_893-52insGGGGGGGGGGGGGGCC)
n.515+51_516-52insGGGGGGGGGGGGGGCC
n.46+51_47-52insGGGGGGGGGGGGGGCC
c.67+51_68-52insGGGGGGGGGGGGGGCC (n.67+51_68-52insGGGGGGGGGGGGGGCC)
c.830+51_831-52insGGGGGGGGGGGGGGCC
c.46+51_47-52insGGGGGGGGGGGGGGCC (n.46+51_47-52insGGGGGGGGGGGGGGCC)
c.904+51_905-52insGGGGGGGGGGGGGGCC (n.904+51_905-52insGGGGGGGGGGGGGGCC)
c.880+51_881-52insGGGGGGGGGGGGGGCC (n.880+51_881-52insGGGGGGGGGGGGGGCC)
c.889+51_890-52insGGGGGGGGGGGGGGCC (n.889+51_890-52insGGGGGGGGGGGGGGCC)
c.865+51_866-52insGGGGGGGGGGGGGGCC (n.865+51_866-52insGGGGGGGGGGGGGGCC)
c.877+51_878-52insGGGGGGGGGGGGGGCC (n.877+51_878-52insGGGGGGGGGGGGGGCC)
 gnomAD v4
1g.17000194_17000195insGGGGCCCCCCCCCCCCCA2643676149ATP13A2c.907+51_908-52insGGGGGGGGGGGGCCCC (n.907+51_908-52insGGGGGGGGGGGGCCCC)
c.892+51_893-52insGGGGGGGGGGGGCCCC (n.892+51_893-52insGGGGGGGGGGGGCCCC)
n.515+51_516-52insGGGGGGGGGGGGCCCC
n.46+51_47-52insGGGGGGGGGGGGCCCC
c.67+51_68-52insGGGGGGGGGGGGCCCC (n.67+51_68-52insGGGGGGGGGGGGCCCC)
c.830+51_831-52insGGGGGGGGGGGGCCCC
c.46+51_47-52insGGGGGGGGGGGGCCCC (n.46+51_47-52insGGGGGGGGGGGGCCCC)
c.904+51_905-52insGGGGGGGGGGGGCCCC (n.904+51_905-52insGGGGGGGGGGGGCCCC)
c.880+51_881-52insGGGGGGGGGGGGCCCC (n.880+51_881-52insGGGGGGGGGGGGCCCC)
c.889+51_890-52insGGGGGGGGGGGGCCCC (n.889+51_890-52insGGGGGGGGGGGGCCCC)
c.865+51_866-52insGGGGGGGGGGGGCCCC (n.865+51_866-52insGGGGGGGGGGGGCCCC)
c.877+51_878-52insGGGGGGGGGGGGCCCC (n.877+51_878-52insGGGGGGGGGGGGCCCC)
 gnomAD v4
1g.17000194_17000195insGGGGCCCCCCCCCCCCCCA2643676155ATP13A2c.907+51_908-52insGGGGGGGGGGGGGCCCC (n.907+51_908-52insGGGGGGGGGGGGGCCCC)
c.892+51_893-52insGGGGGGGGGGGGGCCCC (n.892+51_893-52insGGGGGGGGGGGGGCCCC)
n.515+51_516-52insGGGGGGGGGGGGGCCCC
n.46+51_47-52insGGGGGGGGGGGGGCCCC
c.67+51_68-52insGGGGGGGGGGGGGCCCC (n.67+51_68-52insGGGGGGGGGGGGGCCCC)
c.830+51_831-52insGGGGGGGGGGGGGCCCC
c.46+51_47-52insGGGGGGGGGGGGGCCCC (n.46+51_47-52insGGGGGGGGGGGGGCCCC)
c.904+51_905-52insGGGGGGGGGGGGGCCCC (n.904+51_905-52insGGGGGGGGGGGGGCCCC)
c.880+51_881-52insGGGGGGGGGGGGGCCCC (n.880+51_881-52insGGGGGGGGGGGGGCCCC)
c.889+51_890-52insGGGGGGGGGGGGGCCCC (n.889+51_890-52insGGGGGGGGGGGGGCCCC)
c.865+51_866-52insGGGGGGGGGGGGGCCCC (n.865+51_866-52insGGGGGGGGGGGGGCCCC)
c.877+51_878-52insGGGGGGGGGGGGGCCCC (n.877+51_878-52insGGGGGGGGGGGGGCCCC)
 gnomAD v4
1g.17000194_17000195insGGGCCCCCCCCCCCCCCCA2593546170ATP13A2c.907+51_908-52insGGGGGGGGGGGGGGCCC (n.907+51_908-52insGGGGGGGGGGGGGGCCC)
c.892+51_893-52insGGGGGGGGGGGGGGCCC (n.892+51_893-52insGGGGGGGGGGGGGGCCC)
n.515+51_516-52insGGGGGGGGGGGGGGCCC
n.46+51_47-52insGGGGGGGGGGGGGGCCC
c.67+51_68-52insGGGGGGGGGGGGGGCCC (n.67+51_68-52insGGGGGGGGGGGGGGCCC)
c.830+51_831-52insGGGGGGGGGGGGGGCCC
c.46+51_47-52insGGGGGGGGGGGGGGCCC (n.46+51_47-52insGGGGGGGGGGGGGGCCC)
c.904+51_905-52insGGGGGGGGGGGGGGCCC (n.904+51_905-52insGGGGGGGGGGGGGGCCC)
c.880+51_881-52insGGGGGGGGGGGGGGCCC (n.880+51_881-52insGGGGGGGGGGGGGGCCC)
c.889+51_890-52insGGGGGGGGGGGGGGCCC (n.889+51_890-52insGGGGGGGGGGGGGGCCC)
c.865+51_866-52insGGGGGGGGGGGGGGCCC (n.865+51_866-52insGGGGGGGGGGGGGGCCC)
c.877+51_878-52insGGGGGGGGGGGGGGCCC (n.877+51_878-52insGGGGGGGGGGGGGGCCC)
 gnomAD v3
1g.17000194_17000195insGGGGCCCCCCCCCCCCCCCA2643676157ATP13A2c.907+51_908-52insGGGGGGGGGGGGGGCCCC (n.907+51_908-52insGGGGGGGGGGGGGGCCCC)
c.892+51_893-52insGGGGGGGGGGGGGGCCCC (n.892+51_893-52insGGGGGGGGGGGGGGCCCC)
n.515+51_516-52insGGGGGGGGGGGGGGCCCC
n.46+51_47-52insGGGGGGGGGGGGGGCCCC
c.67+51_68-52insGGGGGGGGGGGGGGCCCC (n.67+51_68-52insGGGGGGGGGGGGGGCCCC)
c.830+51_831-52insGGGGGGGGGGGGGGCCCC
c.46+51_47-52insGGGGGGGGGGGGGGCCCC (n.46+51_47-52insGGGGGGGGGGGGGGCCCC)
c.904+51_905-52insGGGGGGGGGGGGGGCCCC (n.904+51_905-52insGGGGGGGGGGGGGGCCCC)
c.880+51_881-52insGGGGGGGGGGGGGGCCCC (n.880+51_881-52insGGGGGGGGGGGGGGCCCC)
c.889+51_890-52insGGGGGGGGGGGGGGCCCC (n.889+51_890-52insGGGGGGGGGGGGGGCCCC)
c.865+51_866-52insGGGGGGGGGGGGGGCCCC (n.865+51_866-52insGGGGGGGGGGGGGGCCCC)
c.877+51_878-52insGGGGGGGGGGGGGGCCCC (n.877+51_878-52insGGGGGGGGGGGGGGCCCC)
 gnomAD v4
1g.17000194_17000195insGGCCCCCCCCCCCCCCCCCCCA2643676348ATP13A2c.907+51_908-52insGGGGGGGGGGGGGGGGGGCC (n.907+51_908-52insGGGGGGGGGGGGGGGGGGCC)
c.892+51_893-52insGGGGGGGGGGGGGGGGGGCC (n.892+51_893-52insGGGGGGGGGGGGGGGGGGCC)
n.515+51_516-52insGGGGGGGGGGGGGGGGGGCC
n.46+51_47-52insGGGGGGGGGGGGGGGGGGCC
c.67+51_68-52insGGGGGGGGGGGGGGGGGGCC (n.67+51_68-52insGGGGGGGGGGGGGGGGGGCC)
c.830+51_831-52insGGGGGGGGGGGGGGGGGGCC
c.46+51_47-52insGGGGGGGGGGGGGGGGGGCC (n.46+51_47-52insGGGGGGGGGGGGGGGGGGCC)
c.904+51_905-52insGGGGGGGGGGGGGGGGGGCC (n.904+51_905-52insGGGGGGGGGGGGGGGGGGCC)
c.880+51_881-52insGGGGGGGGGGGGGGGGGGCC (n.880+51_881-52insGGGGGGGGGGGGGGGGGGCC)
c.889+51_890-52insGGGGGGGGGGGGGGGGGGCC (n.889+51_890-52insGGGGGGGGGGGGGGGGGGCC)
c.865+51_866-52insGGGGGGGGGGGGGGGGGGCC (n.865+51_866-52insGGGGGGGGGGGGGGGGGGCC)
c.877+51_878-52insGGGGGGGGGGGGGGGGGGCC (n.877+51_878-52insGGGGGGGGGGGGGGGGGGCC)
 gnomAD v4
1g.17000194_17000195insGCCCCCCCCCCCCCCCCCCCCCCCCA2643676413ATP13A2c.907+51_908-52insGGGGGGGGGGGGGGGGGGGGGGGC (n.907+51_908-52insGGGGGGGGGGGGGGGGGGGGGGGC)
c.892+51_893-52insGGGGGGGGGGGGGGGGGGGGGGGC (n.892+51_893-52insGGGGGGGGGGGGGGGGGGGGGGGC)
n.515+51_516-52insGGGGGGGGGGGGGGGGGGGGGGGC
n.46+51_47-52insGGGGGGGGGGGGGGGGGGGGGGGC
c.67+51_68-52insGGGGGGGGGGGGGGGGGGGGGGGC (n.67+51_68-52insGGGGGGGGGGGGGGGGGGGGGGGC)
c.830+51_831-52insGGGGGGGGGGGGGGGGGGGGGGGC
c.46+51_47-52insGGGGGGGGGGGGGGGGGGGGGGGC (n.46+51_47-52insGGGGGGGGGGGGGGGGGGGGGGGC)
c.904+51_905-52insGGGGGGGGGGGGGGGGGGGGGGGC (n.904+51_905-52insGGGGGGGGGGGGGGGGGGGGGGGC)
c.880+51_881-52insGGGGGGGGGGGGGGGGGGGGGGGC (n.880+51_881-52insGGGGGGGGGGGGGGGGGGGGGGGC)
c.889+51_890-52insGGGGGGGGGGGGGGGGGGGGGGGC (n.889+51_890-52insGGGGGGGGGGGGGGGGGGGGGGGC)
c.865+51_866-52insGGGGGGGGGGGGGGGGGGGGGGGC (n.865+51_866-52insGGGGGGGGGGGGGGGGGGGGGGGC)
c.877+51_878-52insGGGGGGGGGGGGGGGGGGGGGGGC (n.877+51_878-52insGGGGGGGGGGGGGGGGGGGGGGGC)
 gnomAD v4
1g.17000194_17000195insGCCCCCCCCCCCCCCCCCCCCTCCCCCCA2643676417ATP13A2c.907+51_908-52insGGGGGAGGGGGGGGGGGGGGGGGGGGC (n.907+51_908-52insGGGGGAGGGGGGGGGGGGGGGGGGGGC)
c.892+51_893-52insGGGGGAGGGGGGGGGGGGGGGGGGGGC (n.892+51_893-52insGGGGGAGGGGGGGGGGGGGGGGGGGGC)
n.515+51_516-52insGGGGGAGGGGGGGGGGGGGGGGGGGGC
n.46+51_47-52insGGGGGAGGGGGGGGGGGGGGGGGGGGC
c.67+51_68-52insGGGGGAGGGGGGGGGGGGGGGGGGGGC (n.67+51_68-52insGGGGGAGGGGGGGGGGGGGGGGGGGGC)
c.830+51_831-52insGGGGGAGGGGGGGGGGGGGGGGGGGGC
c.46+51_47-52insGGGGGAGGGGGGGGGGGGGGGGGGGGC (n.46+51_47-52insGGGGGAGGGGGGGGGGGGGGGGGGGGC)
c.904+51_905-52insGGGGGAGGGGGGGGGGGGGGGGGGGGC (n.904+51_905-52insGGGGGAGGGGGGGGGGGGGGGGGGGGC)
c.880+51_881-52insGGGGGAGGGGGGGGGGGGGGGGGGGGC (n.880+51_881-52insGGGGGAGGGGGGGGGGGGGGGGGGGGC)
c.889+51_890-52insGGGGGAGGGGGGGGGGGGGGGGGGGGC (n.889+51_890-52insGGGGGAGGGGGGGGGGGGGGGGGGGGC)
c.865+51_866-52insGGGGGAGGGGGGGGGGGGGGGGGGGGC (n.865+51_866-52insGGGGGAGGGGGGGGGGGGGGGGGGGGC)
c.877+51_878-52insGGGGGAGGGGGGGGGGGGGGGGGGGGC (n.877+51_878-52insGGGGGAGGGGGGGGGGGGGGGGGGGGC)
 gnomAD v4
1g.17000194_17000195insGGGCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCA2643675948ATP13A2c.907+51_908-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCC (n.907+51_908-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCC)
c.892+51_893-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCC (n.892+51_893-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCC)
n.515+51_516-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCC
n.46+51_47-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCC
c.67+51_68-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCC (n.67+51_68-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCC)
c.830+51_831-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCC
c.46+51_47-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCC (n.46+51_47-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCC)
c.904+51_905-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCC (n.904+51_905-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCC)
c.880+51_881-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCC (n.880+51_881-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCC)
c.889+51_890-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCC (n.889+51_890-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCC)
c.865+51_866-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCC (n.865+51_866-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCC)
c.877+51_878-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCC (n.877+51_878-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCC)
 gnomAD v4
1g.17000195C>ACA521449782ATP13A2c.907+51G>T (n.907+51G>T)
c.892+51G>T (n.892+51G>T)
n.515+51G>T
n.46+51G>T
c.67+51G>T (n.67+51G>T)
c.830+51G>T
c.46+51G>T (n.46+51G>T)
c.904+51G>T (n.904+51G>T)
c.880+51G>T (n.880+51G>T)
c.889+51G>T (n.889+51G>T)
c.865+51G>T (n.865+51G>T)
c.877+51G>T (n.877+51G>T)
 dbSNP gnomAD v2 gnomAD v4
1g.17000195C=CA1156038694ATP13A2c.907+51G= (n.907+51G=)
c.892+51G= (n.892+51G=)
n.515+51G=
n.46+51G=
c.67+51G= (n.67+51G=)
c.830+51G=
c.46+51G= (n.46+51G=)
c.904+51G= (n.904+51G=)
c.880+51G= (n.880+51G=)
c.889+51G= (n.889+51G=)
c.865+51G= (n.865+51G=)
c.877+51G= (n.877+51G=)
1g.17000195C>GCA521449783ATP13A2c.907+51G>C (n.907+51G>C)
c.892+51G>C (n.892+51G>C)
n.515+51G>C
n.46+51G>C
c.67+51G>C (n.67+51G>C)
c.830+51G>C
c.46+51G>C (n.46+51G>C)
c.904+51G>C (n.904+51G>C)
c.880+51G>C (n.880+51G>C)
c.889+51G>C (n.889+51G>C)
c.865+51G>C (n.865+51G>C)
c.877+51G>C (n.877+51G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.17000195C>TCA637428ATP13A2c.907+51G>A (n.907+51G>A)
c.892+51G>A (n.892+51G>A)
n.515+51G>A
n.46+51G>A
c.67+51G>A (n.67+51G>A)
c.830+51G>A
c.46+51G>A (n.46+51G>A)
c.904+51G>A (n.904+51G>A)
c.880+51G>A (n.880+51G>A)
c.889+51G>A (n.889+51G>A)
c.865+51G>A (n.865+51G>A)
c.877+51G>A (n.877+51G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17000195_17000196insACCA2643676390ATP13A2c.907+51_908-52insTG (n.907+51_908-52insTG)
c.892+51_893-52insTG (n.892+51_893-52insTG)
n.515+51_516-52insTG
n.46+51_47-52insTG
c.67+51_68-52insTG (n.67+51_68-52insTG)
c.830+51_831-52insTG
c.46+51_47-52insTG (n.46+51_47-52insTG)
c.904+51_905-52insTG (n.904+51_905-52insTG)
c.880+51_881-52insTG (n.880+51_881-52insTG)
c.889+51_890-52insTG (n.889+51_890-52insTG)
c.865+51_866-52insTG (n.865+51_866-52insTG)
c.877+51_878-52insTG (n.877+51_878-52insTG)
 gnomAD v4
1g.17000195_17000196insACCCA2643676394ATP13A2c.907+51_908-52insGTG (n.907+51_908-52insGTG)
c.892+51_893-52insGTG (n.892+51_893-52insGTG)
n.515+51_516-52insGTG
n.46+51_47-52insGTG
c.67+51_68-52insGTG (n.67+51_68-52insGTG)
c.830+51_831-52insGTG
c.46+51_47-52insGTG (n.46+51_47-52insGTG)
c.904+51_905-52insGTG (n.904+51_905-52insGTG)
c.880+51_881-52insGTG (n.880+51_881-52insGTG)
c.889+51_890-52insGTG (n.889+51_890-52insGTG)
c.865+51_866-52insGTG (n.865+51_866-52insGTG)
c.877+51_878-52insGTG (n.877+51_878-52insGTG)
 gnomAD v4
1g.17000195_17000196insGCCCA2643676429ATP13A2c.907+51_908-52insGCG (n.907+51_908-52insGCG)
c.892+51_893-52insGCG (n.892+51_893-52insGCG)
n.515+51_516-52insGCG
n.46+51_47-52insGCG
c.67+51_68-52insGCG (n.67+51_68-52insGCG)
c.830+51_831-52insGCG
c.46+51_47-52insGCG (n.46+51_47-52insGCG)
c.904+51_905-52insGCG (n.904+51_905-52insGCG)
c.880+51_881-52insGCG (n.880+51_881-52insGCG)
c.889+51_890-52insGCG (n.889+51_890-52insGCG)
c.865+51_866-52insGCG (n.865+51_866-52insGCG)
c.877+51_878-52insGCG (n.877+51_878-52insGCG)
 gnomAD v4
1g.17000195_17000196insTCCCA2643676469ATP13A2c.907+51_908-52insGAG (n.907+51_908-52insGAG)
c.892+51_893-52insGAG (n.892+51_893-52insGAG)
n.515+51_516-52insGAG
n.46+51_47-52insGAG
c.67+51_68-52insGAG (n.67+51_68-52insGAG)
c.830+51_831-52insGAG
c.46+51_47-52insGAG (n.46+51_47-52insGAG)
c.904+51_905-52insGAG (n.904+51_905-52insGAG)
c.880+51_881-52insGAG (n.880+51_881-52insGAG)
c.889+51_890-52insGAG (n.889+51_890-52insGAG)
c.865+51_866-52insGAG (n.865+51_866-52insGAG)
c.877+51_878-52insGAG (n.877+51_878-52insGAG)
 gnomAD v4
1g.17000195_17000196insACCCCA2643676400ATP13A2c.907+51_908-52insGGTG (n.907+51_908-52insGGTG)
c.892+51_893-52insGGTG (n.892+51_893-52insGGTG)
n.515+51_516-52insGGTG
n.46+51_47-52insGGTG
c.67+51_68-52insGGTG (n.67+51_68-52insGGTG)
c.830+51_831-52insGGTG
c.46+51_47-52insGGTG (n.46+51_47-52insGGTG)
c.904+51_905-52insGGTG (n.904+51_905-52insGGTG)
c.880+51_881-52insGGTG (n.880+51_881-52insGGTG)
c.889+51_890-52insGGTG (n.889+51_890-52insGGTG)
c.865+51_866-52insGGTG (n.865+51_866-52insGGTG)
c.877+51_878-52insGGTG (n.877+51_878-52insGGTG)
 gnomAD v4
1g.17000195_17000196insGCCCCA2643676461ATP13A2c.907+51_908-52insGGCG (n.907+51_908-52insGGCG)
c.892+51_893-52insGGCG (n.892+51_893-52insGGCG)
n.515+51_516-52insGGCG
n.46+51_47-52insGGCG
c.67+51_68-52insGGCG (n.67+51_68-52insGGCG)
c.830+51_831-52insGGCG
c.46+51_47-52insGGCG (n.46+51_47-52insGGCG)
c.904+51_905-52insGGCG (n.904+51_905-52insGGCG)
c.880+51_881-52insGGCG (n.880+51_881-52insGGCG)
c.889+51_890-52insGGCG (n.889+51_890-52insGGCG)
c.865+51_866-52insGGCG (n.865+51_866-52insGGCG)
c.877+51_878-52insGGCG (n.877+51_878-52insGGCG)
 gnomAD v4
1g.17000195_17000196insTCCCCA2643676482ATP13A2c.907+51_908-52insGGAG (n.907+51_908-52insGGAG)
c.892+51_893-52insGGAG (n.892+51_893-52insGGAG)
n.515+51_516-52insGGAG
n.46+51_47-52insGGAG
c.67+51_68-52insGGAG (n.67+51_68-52insGGAG)
c.830+51_831-52insGGAG
c.46+51_47-52insGGAG (n.46+51_47-52insGGAG)
c.904+51_905-52insGGAG (n.904+51_905-52insGGAG)
c.880+51_881-52insGGAG (n.880+51_881-52insGGAG)
c.889+51_890-52insGGAG (n.889+51_890-52insGGAG)
c.865+51_866-52insGGAG (n.865+51_866-52insGGAG)
c.877+51_878-52insGGAG (n.877+51_878-52insGGAG)
 gnomAD v4
1g.17000195_17000196insACCCCCA2643676405ATP13A2c.907+51_908-52insGGGTG (n.907+51_908-52insGGGTG)
c.892+51_893-52insGGGTG (n.892+51_893-52insGGGTG)
n.515+51_516-52insGGGTG
n.46+51_47-52insGGGTG
c.67+51_68-52insGGGTG (n.67+51_68-52insGGGTG)
c.830+51_831-52insGGGTG
c.46+51_47-52insGGGTG (n.46+51_47-52insGGGTG)
c.904+51_905-52insGGGTG (n.904+51_905-52insGGGTG)
c.880+51_881-52insGGGTG (n.880+51_881-52insGGGTG)
c.889+51_890-52insGGGTG (n.889+51_890-52insGGGTG)
c.865+51_866-52insGGGTG (n.865+51_866-52insGGGTG)
c.877+51_878-52insGGGTG (n.877+51_878-52insGGGTG)
 gnomAD v4
1g.17000195_17000196insTCCCCCA2643676488ATP13A2c.907+51_908-52insGGGAG (n.907+51_908-52insGGGAG)
c.892+51_893-52insGGGAG (n.892+51_893-52insGGGAG)
n.515+51_516-52insGGGAG
n.46+51_47-52insGGGAG
c.67+51_68-52insGGGAG (n.67+51_68-52insGGGAG)
c.830+51_831-52insGGGAG
c.46+51_47-52insGGGAG (n.46+51_47-52insGGGAG)
c.904+51_905-52insGGGAG (n.904+51_905-52insGGGAG)
c.880+51_881-52insGGGAG (n.880+51_881-52insGGGAG)
c.889+51_890-52insGGGAG (n.889+51_890-52insGGGAG)
c.865+51_866-52insGGGAG (n.865+51_866-52insGGGAG)
c.877+51_878-52insGGGAG (n.877+51_878-52insGGGAG)
 gnomAD v4
1g.17000195_17000196insTCCCCCCA2643676492ATP13A2c.907+51_908-52insGGGGAG (n.907+51_908-52insGGGGAG)
c.892+51_893-52insGGGGAG (n.892+51_893-52insGGGGAG)
n.515+51_516-52insGGGGAG
n.46+51_47-52insGGGGAG
c.67+51_68-52insGGGGAG (n.67+51_68-52insGGGGAG)
c.830+51_831-52insGGGGAG
c.46+51_47-52insGGGGAG (n.46+51_47-52insGGGGAG)
c.904+51_905-52insGGGGAG (n.904+51_905-52insGGGGAG)
c.880+51_881-52insGGGGAG (n.880+51_881-52insGGGGAG)
c.889+51_890-52insGGGGAG (n.889+51_890-52insGGGGAG)
c.865+51_866-52insGGGGAG (n.865+51_866-52insGGGGAG)
c.877+51_878-52insGGGGAG (n.877+51_878-52insGGGGAG)
 gnomAD v4
1g.17000195_17000196insTCCCCCCCCCCCCCCCCA2742637390ATP13A2c.907+51_908-52insGGGGGGGGGGGGGGAG (n.907+51_908-52insGGGGGGGGGGGGGGAG)
c.892+51_893-52insGGGGGGGGGGGGGGAG (n.892+51_893-52insGGGGGGGGGGGGGGAG)
n.515+51_516-52insGGGGGGGGGGGGGGAG
n.46+51_47-52insGGGGGGGGGGGGGGAG
c.67+51_68-52insGGGGGGGGGGGGGGAG (n.67+51_68-52insGGGGGGGGGGGGGGAG)
c.830+51_831-52insGGGGGGGGGGGGGGAG
c.46+51_47-52insGGGGGGGGGGGGGGAG (n.46+51_47-52insGGGGGGGGGGGGGGAG)
c.904+51_905-52insGGGGGGGGGGGGGGAG (n.904+51_905-52insGGGGGGGGGGGGGGAG)
c.880+51_881-52insGGGGGGGGGGGGGGAG (n.880+51_881-52insGGGGGGGGGGGGGGAG)
c.889+51_890-52insGGGGGGGGGGGGGGAG (n.889+51_890-52insGGGGGGGGGGGGGGAG)
c.865+51_866-52insGGGGGGGGGGGGGGAG (n.865+51_866-52insGGGGGGGGGGGGGGAG)
c.877+51_878-52insGGGGGGGGGGGGGGAG (n.877+51_878-52insGGGGGGGGGGGGGGAG)
1g.17000195_17000196insTCCCCCCCCCCCCCCCCCCCCCCCA2742637391ATP13A2c.907+51_908-52insGGGGGGGGGGGGGGGGGGGGGAG (n.907+51_908-52insGGGGGGGGGGGGGGGGGGGGGAG)
c.892+51_893-52insGGGGGGGGGGGGGGGGGGGGGAG (n.892+51_893-52insGGGGGGGGGGGGGGGGGGGGGAG)
n.515+51_516-52insGGGGGGGGGGGGGGGGGGGGGAG
n.46+51_47-52insGGGGGGGGGGGGGGGGGGGGGAG
c.67+51_68-52insGGGGGGGGGGGGGGGGGGGGGAG (n.67+51_68-52insGGGGGGGGGGGGGGGGGGGGGAG)
c.830+51_831-52insGGGGGGGGGGGGGGGGGGGGGAG
c.46+51_47-52insGGGGGGGGGGGGGGGGGGGGGAG (n.46+51_47-52insGGGGGGGGGGGGGGGGGGGGGAG)
c.904+51_905-52insGGGGGGGGGGGGGGGGGGGGGAG (n.904+51_905-52insGGGGGGGGGGGGGGGGGGGGGAG)
c.880+51_881-52insGGGGGGGGGGGGGGGGGGGGGAG (n.880+51_881-52insGGGGGGGGGGGGGGGGGGGGGAG)
c.889+51_890-52insGGGGGGGGGGGGGGGGGGGGGAG (n.889+51_890-52insGGGGGGGGGGGGGGGGGGGGGAG)
c.865+51_866-52insGGGGGGGGGGGGGGGGGGGGGAG (n.865+51_866-52insGGGGGGGGGGGGGGGGGGGGGAG)
c.877+51_878-52insGGGGGGGGGGGGGGGGGGGGGAG (n.877+51_878-52insGGGGGGGGGGGGGGGGGGGGGAG)
1g.17000196_17000197insACCCA2643676407ATP13A2c.907+51_908-52insTGG (n.907+51_908-52insTGG)
c.892+51_893-52insTGG (n.892+51_893-52insTGG)
n.515+51_516-52insTGG
n.46+51_47-52insTGG
c.67+51_68-52insTGG (n.67+51_68-52insTGG)
c.830+51_831-52insTGG
c.46+51_47-52insTGG (n.46+51_47-52insTGG)
c.904+51_905-52insTGG (n.904+51_905-52insTGG)
c.880+51_881-52insTGG (n.880+51_881-52insTGG)
c.889+51_890-52insTGG (n.889+51_890-52insTGG)
c.865+51_866-52insTGG (n.865+51_866-52insTGG)
c.877+51_878-52insTGG (n.877+51_878-52insTGG)
 gnomAD v4
1g.17000196_17000197insGCCCCA2643676458ATP13A2c.907+51_908-52insGCGG (n.907+51_908-52insGCGG)
c.892+51_893-52insGCGG (n.892+51_893-52insGCGG)
n.515+51_516-52insGCGG
n.46+51_47-52insGCGG
c.67+51_68-52insGCGG (n.67+51_68-52insGCGG)
c.830+51_831-52insGCGG
c.46+51_47-52insGCGG (n.46+51_47-52insGCGG)
c.904+51_905-52insGCGG (n.904+51_905-52insGCGG)
c.880+51_881-52insGCGG (n.880+51_881-52insGCGG)
c.889+51_890-52insGCGG (n.889+51_890-52insGCGG)
c.865+51_866-52insGCGG (n.865+51_866-52insGCGG)
c.877+51_878-52insGCGG (n.877+51_878-52insGCGG)
 gnomAD v4
1g.17000196_17000197insACCCCCA2643676302ATP13A2c.907+51_908-52insGGTGG (n.907+51_908-52insGGTGG)
c.892+51_893-52insGGTGG (n.892+51_893-52insGGTGG)
n.515+51_516-52insGGTGG
n.46+51_47-52insGGTGG
c.67+51_68-52insGGTGG (n.67+51_68-52insGGTGG)
c.830+51_831-52insGGTGG
c.46+51_47-52insGGTGG (n.46+51_47-52insGGTGG)
c.904+51_905-52insGGTGG (n.904+51_905-52insGGTGG)
c.880+51_881-52insGGTGG (n.880+51_881-52insGGTGG)
c.889+51_890-52insGGTGG (n.889+51_890-52insGGTGG)
c.865+51_866-52insGGTGG (n.865+51_866-52insGGTGG)
c.877+51_878-52insGGTGG (n.877+51_878-52insGGTGG)
 gnomAD v4
1g.17000200_17000201insTCCCCCCCCCA2643676331ATP13A2c.907+51_908-52insGGAGGGGGG (n.907+51_908-52insGGAGGGGGG)
c.892+51_893-52insGGAGGGGGG (n.892+51_893-52insGGAGGGGGG)
n.515+51_516-52insGGAGGGGGG
n.46+51_47-52insGGAGGGGGG
c.67+51_68-52insGGAGGGGGG (n.67+51_68-52insGGAGGGGGG)
c.830+51_831-52insGGAGGGGGG
c.46+51_47-52insGGAGGGGGG (n.46+51_47-52insGGAGGGGGG)
c.904+51_905-52insGGAGGGGGG (n.904+51_905-52insGGAGGGGGG)
c.880+51_881-52insGGAGGGGGG (n.880+51_881-52insGGAGGGGGG)
c.889+51_890-52insGGAGGGGGG (n.889+51_890-52insGGAGGGGGG)
c.865+51_866-52insGGAGGGGGG (n.865+51_866-52insGGAGGGGGG)
c.877+51_878-52insGGAGGGGGG (n.877+51_878-52insGGAGGGGGG)
 gnomAD v4
1g.17000201_17000202insCCCCCCCCCA2742637389ATP13A2c.907+51_908-52insGGGGGGGG (n.907+51_908-52insGGGGGGGG)
c.892+51_893-52insGGGGGGGG (n.892+51_893-52insGGGGGGGG)
n.515+51_516-52insGGGGGGGG
n.46+51_47-52insGGGGGGGG
c.67+51_68-52insGGGGGGGG (n.67+51_68-52insGGGGGGGG)
c.830+51_831-52insGGGGGGGG
c.46+51_47-52insGGGGGGGG (n.46+51_47-52insGGGGGGGG)
c.904+51_905-52insGGGGGGGG (n.904+51_905-52insGGGGGGGG)
c.880+51_881-52insGGGGGGGG (n.880+51_881-52insGGGGGGGG)
c.889+51_890-52insGGGGGGGG (n.889+51_890-52insGGGGGGGG)
c.865+51_866-52insGGGGGGGG (n.865+51_866-52insGGGGGGGG)
c.877+51_878-52insGGGGGGGG (n.877+51_878-52insGGGGGGGG)
1g.17000201_17000202insCCCCCCCCCCCA999067164ATP13A2c.907+51_908-52insGGGGGGGGGG (n.907+51_908-52insGGGGGGGGGG)
c.892+51_893-52insGGGGGGGGGG (n.892+51_893-52insGGGGGGGGGG)
n.515+51_516-52insGGGGGGGGGG
n.46+51_47-52insGGGGGGGGGG
c.67+51_68-52insGGGGGGGGGG (n.67+51_68-52insGGGGGGGGGG)
c.830+51_831-52insGGGGGGGGGG
c.46+51_47-52insGGGGGGGGGG (n.46+51_47-52insGGGGGGGGGG)
c.904+51_905-52insGGGGGGGGGG (n.904+51_905-52insGGGGGGGGGG)
c.880+51_881-52insGGGGGGGGGG (n.880+51_881-52insGGGGGGGGGG)
c.889+51_890-52insGGGGGGGGGG (n.889+51_890-52insGGGGGGGGGG)
c.865+51_866-52insGGGGGGGGGG (n.865+51_866-52insGGGGGGGGGG)
c.877+51_878-52insGGGGGGGGGG (n.877+51_878-52insGGGGGGGGGG)
 gnomAD v3 gnomAD v4
1g.17000201_17000202insCCCCCCCCCCCCCA2643676279ATP13A2c.907+51_908-52insGGGGGGGGGGGG (n.907+51_908-52insGGGGGGGGGGGG)
c.892+51_893-52insGGGGGGGGGGGG (n.892+51_893-52insGGGGGGGGGGGG)
n.515+51_516-52insGGGGGGGGGGGG
n.46+51_47-52insGGGGGGGGGGGG
c.67+51_68-52insGGGGGGGGGGGG (n.67+51_68-52insGGGGGGGGGGGG)
c.830+51_831-52insGGGGGGGGGGGG
c.46+51_47-52insGGGGGGGGGGGG (n.46+51_47-52insGGGGGGGGGGGG)
c.904+51_905-52insGGGGGGGGGGGG (n.904+51_905-52insGGGGGGGGGGGG)
c.880+51_881-52insGGGGGGGGGGGG (n.880+51_881-52insGGGGGGGGGGGG)
c.889+51_890-52insGGGGGGGGGGGG (n.889+51_890-52insGGGGGGGGGGGG)
c.865+51_866-52insGGGGGGGGGGGG (n.865+51_866-52insGGGGGGGGGGGG)
c.877+51_878-52insGGGGGGGGGGGG (n.877+51_878-52insGGGGGGGGGGGG)
 gnomAD v4
1g.17000201_17000202insCCCCCCCCCCCCCCCA2643676287ATP13A2c.907+51_908-52insGGGGGGGGGGGGGG (n.907+51_908-52insGGGGGGGGGGGGGG)
c.892+51_893-52insGGGGGGGGGGGGGG (n.892+51_893-52insGGGGGGGGGGGGGG)
n.515+51_516-52insGGGGGGGGGGGGGG
n.46+51_47-52insGGGGGGGGGGGGGG
c.67+51_68-52insGGGGGGGGGGGGGG (n.67+51_68-52insGGGGGGGGGGGGGG)
c.830+51_831-52insGGGGGGGGGGGGGG
c.46+51_47-52insGGGGGGGGGGGGGG (n.46+51_47-52insGGGGGGGGGGGGGG)
c.904+51_905-52insGGGGGGGGGGGGGG (n.904+51_905-52insGGGGGGGGGGGGGG)
c.880+51_881-52insGGGGGGGGGGGGGG (n.880+51_881-52insGGGGGGGGGGGGGG)
c.889+51_890-52insGGGGGGGGGGGGGG (n.889+51_890-52insGGGGGGGGGGGGGG)
c.865+51_866-52insGGGGGGGGGGGGGG (n.865+51_866-52insGGGGGGGGGGGGGG)
c.877+51_878-52insGGGGGGGGGGGGGG (n.877+51_878-52insGGGGGGGGGGGGGG)
 gnomAD v4
1g.17000201_17000202insCCCCCCCCCCCCCCCCCA2643676294ATP13A2c.907+51_908-52insGGGGGGGGGGGGGGGG (n.907+51_908-52insGGGGGGGGGGGGGGGG)
c.892+51_893-52insGGGGGGGGGGGGGGGG (n.892+51_893-52insGGGGGGGGGGGGGGGG)
n.515+51_516-52insGGGGGGGGGGGGGGGG
n.46+51_47-52insGGGGGGGGGGGGGGGG
c.67+51_68-52insGGGGGGGGGGGGGGGG (n.67+51_68-52insGGGGGGGGGGGGGGGG)
c.830+51_831-52insGGGGGGGGGGGGGGGG
c.46+51_47-52insGGGGGGGGGGGGGGGG (n.46+51_47-52insGGGGGGGGGGGGGGGG)
c.904+51_905-52insGGGGGGGGGGGGGGGG (n.904+51_905-52insGGGGGGGGGGGGGGGG)
c.880+51_881-52insGGGGGGGGGGGGGGGG (n.880+51_881-52insGGGGGGGGGGGGGGGG)
c.889+51_890-52insGGGGGGGGGGGGGGGG (n.889+51_890-52insGGGGGGGGGGGGGGGG)
c.865+51_866-52insGGGGGGGGGGGGGGGG (n.865+51_866-52insGGGGGGGGGGGGGGGG)
c.877+51_878-52insGGGGGGGGGGGGGGGG (n.877+51_878-52insGGGGGGGGGGGGGGGG)
 gnomAD v4
1g.17000201_17000202insCCCCCCCCCCCCCCCCCCCA2643676298ATP13A2c.907+51_908-52insGGGGGGGGGGGGGGGGGG (n.907+51_908-52insGGGGGGGGGGGGGGGGGG)
c.892+51_893-52insGGGGGGGGGGGGGGGGGG (n.892+51_893-52insGGGGGGGGGGGGGGGGGG)
n.515+51_516-52insGGGGGGGGGGGGGGGGGG
n.46+51_47-52insGGGGGGGGGGGGGGGGGG
c.67+51_68-52insGGGGGGGGGGGGGGGGGG (n.67+51_68-52insGGGGGGGGGGGGGGGGGG)
c.830+51_831-52insGGGGGGGGGGGGGGGGGG
c.46+51_47-52insGGGGGGGGGGGGGGGGGG (n.46+51_47-52insGGGGGGGGGGGGGGGGGG)
c.904+51_905-52insGGGGGGGGGGGGGGGGGG (n.904+51_905-52insGGGGGGGGGGGGGGGGGG)
c.880+51_881-52insGGGGGGGGGGGGGGGGGG (n.880+51_881-52insGGGGGGGGGGGGGGGGGG)
c.889+51_890-52insGGGGGGGGGGGGGGGGGG (n.889+51_890-52insGGGGGGGGGGGGGGGGGG)
c.865+51_866-52insGGGGGGGGGGGGGGGGGG (n.865+51_866-52insGGGGGGGGGGGGGGGGGG)
c.877+51_878-52insGGGGGGGGGGGGGGGGGG (n.877+51_878-52insGGGGGGGGGGGGGGGGGG)
 gnomAD v4
1g.17000201_17000202insCCCCCCCCCCCCCCCCCCCCA2643676245ATP13A2c.907+51_908-52insGGGGGGGGGGGGGGGGGGG (n.907+51_908-52insGGGGGGGGGGGGGGGGGGG)
c.892+51_893-52insGGGGGGGGGGGGGGGGGGG (n.892+51_893-52insGGGGGGGGGGGGGGGGGGG)
n.515+51_516-52insGGGGGGGGGGGGGGGGGGG
n.46+51_47-52insGGGGGGGGGGGGGGGGGGG
c.67+51_68-52insGGGGGGGGGGGGGGGGGGG (n.67+51_68-52insGGGGGGGGGGGGGGGGGGG)
c.830+51_831-52insGGGGGGGGGGGGGGGGGGG
c.46+51_47-52insGGGGGGGGGGGGGGGGGGG (n.46+51_47-52insGGGGGGGGGGGGGGGGGGG)
c.904+51_905-52insGGGGGGGGGGGGGGGGGGG (n.904+51_905-52insGGGGGGGGGGGGGGGGGGG)
c.880+51_881-52insGGGGGGGGGGGGGGGGGGG (n.880+51_881-52insGGGGGGGGGGGGGGGGGGG)
c.889+51_890-52insGGGGGGGGGGGGGGGGGGG (n.889+51_890-52insGGGGGGGGGGGGGGGGGGG)
c.865+51_866-52insGGGGGGGGGGGGGGGGGGG (n.865+51_866-52insGGGGGGGGGGGGGGGGGGG)
c.877+51_878-52insGGGGGGGGGGGGGGGGGGG (n.877+51_878-52insGGGGGGGGGGGGGGGGGGG)
 gnomAD v4
1g.17000201_17000202insCCCCCCCCCCCCCCCCCCCCCA999067165ATP13A2c.907+51_908-52insGGGGGGGGGGGGGGGGGGGG (n.907+51_908-52insGGGGGGGGGGGGGGGGGGGG)
c.892+51_893-52insGGGGGGGGGGGGGGGGGGGG (n.892+51_893-52insGGGGGGGGGGGGGGGGGGGG)
n.515+51_516-52insGGGGGGGGGGGGGGGGGGGG
n.46+51_47-52insGGGGGGGGGGGGGGGGGGGG
c.67+51_68-52insGGGGGGGGGGGGGGGGGGGG (n.67+51_68-52insGGGGGGGGGGGGGGGGGGGG)
c.830+51_831-52insGGGGGGGGGGGGGGGGGGGG
c.46+51_47-52insGGGGGGGGGGGGGGGGGGGG (n.46+51_47-52insGGGGGGGGGGGGGGGGGGGG)
c.904+51_905-52insGGGGGGGGGGGGGGGGGGGG (n.904+51_905-52insGGGGGGGGGGGGGGGGGGGG)
c.880+51_881-52insGGGGGGGGGGGGGGGGGGGG (n.880+51_881-52insGGGGGGGGGGGGGGGGGGGG)
c.889+51_890-52insGGGGGGGGGGGGGGGGGGGG (n.889+51_890-52insGGGGGGGGGGGGGGGGGGGG)
c.865+51_866-52insGGGGGGGGGGGGGGGGGGGG (n.865+51_866-52insGGGGGGGGGGGGGGGGGGGG)
c.877+51_878-52insGGGGGGGGGGGGGGGGGGGG (n.877+51_878-52insGGGGGGGGGGGGGGGGGGGG)
 gnomAD v3 gnomAD v4
1g.17000201_17000202insCCCCCCCCCCCCCCCCCCCCCCA2643676306ATP13A2c.907+51_908-52insGGGGGGGGGGGGGGGGGGGGG (n.907+51_908-52insGGGGGGGGGGGGGGGGGGGGG)
c.892+51_893-52insGGGGGGGGGGGGGGGGGGGGG (n.892+51_893-52insGGGGGGGGGGGGGGGGGGGGG)
n.515+51_516-52insGGGGGGGGGGGGGGGGGGGGG
n.46+51_47-52insGGGGGGGGGGGGGGGGGGGGG
c.67+51_68-52insGGGGGGGGGGGGGGGGGGGGG (n.67+51_68-52insGGGGGGGGGGGGGGGGGGGGG)
c.830+51_831-52insGGGGGGGGGGGGGGGGGGGGG
c.46+51_47-52insGGGGGGGGGGGGGGGGGGGGG (n.46+51_47-52insGGGGGGGGGGGGGGGGGGGGG)
c.904+51_905-52insGGGGGGGGGGGGGGGGGGGGG (n.904+51_905-52insGGGGGGGGGGGGGGGGGGGGG)
c.880+51_881-52insGGGGGGGGGGGGGGGGGGGGG (n.880+51_881-52insGGGGGGGGGGGGGGGGGGGGG)
c.889+51_890-52insGGGGGGGGGGGGGGGGGGGGG (n.889+51_890-52insGGGGGGGGGGGGGGGGGGGGG)
c.865+51_866-52insGGGGGGGGGGGGGGGGGGGGG (n.865+51_866-52insGGGGGGGGGGGGGGGGGGGGG)
c.877+51_878-52insGGGGGGGGGGGGGGGGGGGGG (n.877+51_878-52insGGGGGGGGGGGGGGGGGGGGG)
 gnomAD v4
1g.17000201_17000202insCCCCCCCCCCCCCCCCCCCCCCCA2643676309ATP13A2c.907+51_908-52insGGGGGGGGGGGGGGGGGGGGGG (n.907+51_908-52insGGGGGGGGGGGGGGGGGGGGGG)
c.892+51_893-52insGGGGGGGGGGGGGGGGGGGGGG (n.892+51_893-52insGGGGGGGGGGGGGGGGGGGGGG)
n.515+51_516-52insGGGGGGGGGGGGGGGGGGGGGG
n.46+51_47-52insGGGGGGGGGGGGGGGGGGGGGG
c.67+51_68-52insGGGGGGGGGGGGGGGGGGGGGG (n.67+51_68-52insGGGGGGGGGGGGGGGGGGGGGG)
c.830+51_831-52insGGGGGGGGGGGGGGGGGGGGGG
c.46+51_47-52insGGGGGGGGGGGGGGGGGGGGGG (n.46+51_47-52insGGGGGGGGGGGGGGGGGGGGGG)
c.904+51_905-52insGGGGGGGGGGGGGGGGGGGGGG (n.904+51_905-52insGGGGGGGGGGGGGGGGGGGGGG)
c.880+51_881-52insGGGGGGGGGGGGGGGGGGGGGG (n.880+51_881-52insGGGGGGGGGGGGGGGGGGGGGG)
c.889+51_890-52insGGGGGGGGGGGGGGGGGGGGGG (n.889+51_890-52insGGGGGGGGGGGGGGGGGGGGGG)
c.865+51_866-52insGGGGGGGGGGGGGGGGGGGGGG (n.865+51_866-52insGGGGGGGGGGGGGGGGGGGGGG)
c.877+51_878-52insGGGGGGGGGGGGGGGGGGGGGG (n.877+51_878-52insGGGGGGGGGGGGGGGGGGGGGG)
 gnomAD v4
1g.17000201_17000202insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCA2643676315ATP13A2c.907+51_908-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.907+51_908-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.892+51_893-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.892+51_893-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
n.515+51_516-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
n.46+51_47-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
c.67+51_68-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.67+51_68-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.830+51_831-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
c.46+51_47-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.46+51_47-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.904+51_905-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.904+51_905-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.880+51_881-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.880+51_881-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.889+51_890-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.889+51_890-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.865+51_866-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.865+51_866-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.877+51_878-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.877+51_878-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
 gnomAD v4
1g.17000201_17000202insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCA2643676321ATP13A2c.907+51_908-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.907+51_908-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.892+51_893-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.892+51_893-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
n.515+51_516-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
n.46+51_47-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
c.67+51_68-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.67+51_68-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.830+51_831-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
c.46+51_47-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.46+51_47-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.904+51_905-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.904+51_905-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.880+51_881-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.880+51_881-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.889+51_890-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.889+51_890-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.865+51_866-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.865+51_866-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.877+51_878-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.877+51_878-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
 gnomAD v4
1g.17000201_17000202insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCA2643676327ATP13A2c.907+51_908-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.907+51_908-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.892+51_893-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.892+51_893-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
n.515+51_516-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
n.46+51_47-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
c.67+51_68-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.67+51_68-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.830+51_831-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
c.46+51_47-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.46+51_47-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.904+51_905-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.904+51_905-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.880+51_881-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.880+51_881-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.889+51_890-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.889+51_890-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.865+51_866-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.865+51_866-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.877+51_878-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.877+51_878-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
 gnomAD v4
1g.17000201_17000202insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCA2643676330ATP13A2c.907+51_908-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.907+51_908-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.892+51_893-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.892+51_893-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
n.515+51_516-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
n.46+51_47-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
c.67+51_68-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.67+51_68-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.830+51_831-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
c.46+51_47-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.46+51_47-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.904+51_905-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.904+51_905-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.880+51_881-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.880+51_881-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.889+51_890-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.889+51_890-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.865+51_866-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.865+51_866-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.877+51_878-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.877+51_878-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
 gnomAD v4
1g.17000201dupCA637427ATP13A2c.907+51dup (n.907+51dup)
c.892+51dup (n.892+51dup)
n.515+51dup
n.46+51dup
c.67+51dup (n.67+51dup)
c.830+51dup
c.46+51dup (n.46+51dup)
c.904+51dup (n.904+51dup)
c.880+51dup (n.880+51dup)
c.889+51dup (n.889+51dup)
c.865+51dup (n.865+51dup)
c.877+51dup (n.877+51dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17000200_17000201dupCA999067162ATP13A2c.907+50_907+51dup (n.907+50_907+51dup)
c.892+50_892+51dup (n.892+50_892+51dup)
n.515+50_515+51dup
n.46+50_46+51dup
c.67+50_67+51dup (n.67+50_67+51dup)
c.830+50_830+51dup
c.46+50_46+51dup (n.46+50_46+51dup)
c.904+50_904+51dup (n.904+50_904+51dup)
c.880+50_880+51dup (n.880+50_880+51dup)
c.889+50_889+51dup (n.889+50_889+51dup)
c.865+50_865+51dup (n.865+50_865+51dup)
c.877+50_877+51dup (n.877+50_877+51dup)
 gnomAD v3 gnomAD v4
1g.17000199_17000201dupCA2643676256ATP13A2c.907+49_907+51dup (n.907+49_907+51dup)
c.892+49_892+51dup (n.892+49_892+51dup)
n.515+49_515+51dup
n.46+49_46+51dup
c.67+49_67+51dup (n.67+49_67+51dup)
c.830+49_830+51dup
c.46+49_46+51dup (n.46+49_46+51dup)
c.904+49_904+51dup (n.904+49_904+51dup)
c.880+49_880+51dup (n.880+49_880+51dup)
c.889+49_889+51dup (n.889+49_889+51dup)
c.865+49_865+51dup (n.865+49_865+51dup)
c.877+49_877+51dup (n.877+49_877+51dup)
 gnomAD v4
1g.17000198_17000201dupCA2643676264ATP13A2c.907+48_907+51dup (n.907+48_907+51dup)
c.892+48_892+51dup (n.892+48_892+51dup)
n.515+48_515+51dup
n.46+48_46+51dup
c.67+48_67+51dup (n.67+48_67+51dup)
c.830+48_830+51dup
c.46+48_46+51dup (n.46+48_46+51dup)
c.904+48_904+51dup (n.904+48_904+51dup)
c.880+48_880+51dup (n.880+48_880+51dup)
c.889+48_889+51dup (n.889+48_889+51dup)
c.865+48_865+51dup (n.865+48_865+51dup)
c.877+48_877+51dup (n.877+48_877+51dup)
 gnomAD v4
1g.17000197_17000201dupCA2643676270ATP13A2c.907+47_907+51dup (n.907+47_907+51dup)
c.892+47_892+51dup (n.892+47_892+51dup)
n.515+47_515+51dup
n.46+47_46+51dup
c.67+47_67+51dup (n.67+47_67+51dup)
c.830+47_830+51dup
c.46+47_46+51dup (n.46+47_46+51dup)
c.904+47_904+51dup (n.904+47_904+51dup)
c.880+47_880+51dup (n.880+47_880+51dup)
c.889+47_889+51dup (n.889+47_889+51dup)
c.865+47_865+51dup (n.865+47_865+51dup)
c.877+47_877+51dup (n.877+47_877+51dup)
 gnomAD v4
1g.17000196_17000201dupCA2574235265ATP13A2c.907+46_907+51dup (n.907+46_907+51dup)
c.892+46_892+51dup (n.892+46_892+51dup)
n.515+46_515+51dup
n.46+46_46+51dup
c.67+46_67+51dup (n.67+46_67+51dup)
c.830+46_830+51dup
c.46+46_46+51dup (n.46+46_46+51dup)
c.904+46_904+51dup (n.904+46_904+51dup)
c.880+46_880+51dup (n.880+46_880+51dup)
c.889+46_889+51dup (n.889+46_889+51dup)
c.865+46_865+51dup (n.865+46_865+51dup)
c.877+46_877+51dup (n.877+46_877+51dup)
1g.17000201delCA645671330ATP13A2c.907+51del (n.907+51del)
c.892+51del (n.892+51del)
n.515+51del
n.46+51del
c.67+51del (n.67+51del)
c.830+51del
c.46+51del (n.46+51del)
c.904+51del (n.904+51del)
c.880+51del (n.880+51del)
c.889+51del (n.889+51del)
c.865+51del (n.865+51del)
c.877+51del (n.877+51del)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
1g.17000200_17000201delCA2643676139ATP13A2c.907+50_907+51del (n.907+50_907+51del)
c.892+50_892+51del (n.892+50_892+51del)
n.515+50_515+51del
n.46+50_46+51del
c.67+50_67+51del (n.67+50_67+51del)
c.830+50_830+51del
c.46+50_46+51del (n.46+50_46+51del)
c.904+50_904+51del (n.904+50_904+51del)
c.880+50_880+51del (n.880+50_880+51del)
c.889+50_889+51del (n.889+50_889+51del)
c.865+50_865+51del (n.865+50_865+51del)
c.877+50_877+51del (n.877+50_877+51del)
 gnomAD v4
1g.17000195_17000196insACA2643676553ATP13A2c.907+50_907+51insT (n.907+50_907+51insT)
c.892+50_892+51insT (n.892+50_892+51insT)
n.515+50_515+51insT
n.46+50_46+51insT
c.67+50_67+51insT (n.67+50_67+51insT)
c.830+50_830+51insT
c.46+50_46+51insT (n.46+50_46+51insT)
c.904+50_904+51insT (n.904+50_904+51insT)
c.880+50_880+51insT (n.880+50_880+51insT)
c.889+50_889+51insT (n.889+50_889+51insT)
c.865+50_865+51insT (n.865+50_865+51insT)
c.877+50_877+51insT (n.877+50_877+51insT)
 gnomAD v4
1g.17000195_17000196insTCA2643676555ATP13A2c.907+50_907+51insA (n.907+50_907+51insA)
c.892+50_892+51insA (n.892+50_892+51insA)
n.515+50_515+51insA
n.46+50_46+51insA
c.67+50_67+51insA (n.67+50_67+51insA)
c.830+50_830+51insA
c.46+50_46+51insA (n.46+50_46+51insA)
c.904+50_904+51insA (n.904+50_904+51insA)
c.880+50_880+51insA (n.880+50_880+51insA)
c.889+50_889+51insA (n.889+50_889+51insA)
c.865+50_865+51insA (n.865+50_865+51insA)
c.877+50_877+51insA (n.877+50_877+51insA)
 gnomAD v4
1g.17000196C>ACA521449784ATP13A2c.907+50G>T (n.907+50G>T)
c.892+50G>T (n.892+50G>T)
n.515+50G>T
n.46+50G>T
c.67+50G>T (n.67+50G>T)
c.830+50G>T
c.46+50G>T (n.46+50G>T)
c.904+50G>T (n.904+50G>T)
c.880+50G>T (n.880+50G>T)
c.889+50G>T (n.889+50G>T)
c.865+50G>T (n.865+50G>T)
c.877+50G>T (n.877+50G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.17000196C=CA1140639553ATP13A2c.907+50G= (n.907+50G=)
c.892+50G= (n.892+50G=)
n.515+50G=
n.46+50G=
c.67+50G= (n.67+50G=)
c.830+50G=
c.46+50G= (n.46+50G=)
c.904+50G= (n.904+50G=)
c.880+50G= (n.880+50G=)
c.889+50G= (n.889+50G=)
c.865+50G= (n.865+50G=)
c.877+50G= (n.877+50G=)
1g.17000196C>GCA999067189ATP13A2c.907+50G>C (n.907+50G>C)
c.892+50G>C (n.892+50G>C)
n.515+50G>C
n.46+50G>C
c.67+50G>C (n.67+50G>C)
c.830+50G>C
c.46+50G>C (n.46+50G>C)
c.904+50G>C (n.904+50G>C)
c.880+50G>C (n.880+50G>C)
c.889+50G>C (n.889+50G>C)
c.865+50G>C (n.865+50G>C)
c.877+50G>C (n.877+50G>C)
 dbSNP gnomAD v3 gnomAD v4
1g.17000196C>TCA637429ATP13A2c.907+50G>A (n.907+50G>A)
c.892+50G>A (n.892+50G>A)
n.515+50G>A
n.46+50G>A
c.67+50G>A (n.67+50G>A)
c.830+50G>A
c.46+50G>A (n.46+50G>A)
c.904+50G>A (n.904+50G>A)
c.880+50G>A (n.880+50G>A)
c.889+50G>A (n.889+50G>A)
c.865+50G>A (n.865+50G>A)
c.877+50G>A (n.877+50G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17000197C>ACA2643676561ATP13A2c.907+49G>T (n.907+49G>T)
c.892+49G>T (n.892+49G>T)
n.515+49G>T
n.46+49G>T
c.67+49G>T (n.67+49G>T)
c.830+49G>T
c.46+49G>T (n.46+49G>T)
c.904+49G>T (n.904+49G>T)
c.880+49G>T (n.880+49G>T)
c.889+49G>T (n.889+49G>T)
c.865+49G>T (n.865+49G>T)
c.877+49G>T (n.877+49G>T)
 gnomAD v4
1g.17000197C=CA1156038714ATP13A2c.907+49G= (n.907+49G=)
c.892+49G= (n.892+49G=)
n.515+49G=
n.46+49G=
c.67+49G= (n.67+49G=)
c.830+49G=
c.46+49G= (n.46+49G=)
c.904+49G= (n.904+49G=)
c.880+49G= (n.880+49G=)
c.889+49G= (n.889+49G=)
c.865+49G= (n.865+49G=)
c.877+49G= (n.877+49G=)
1g.17000197C>GCA2574235290ATP13A2c.907+49G>C (n.907+49G>C)
c.892+49G>C (n.892+49G>C)
n.515+49G>C
n.46+49G>C
c.67+49G>C (n.67+49G>C)
c.830+49G>C
c.46+49G>C (n.46+49G>C)
c.904+49G>C (n.904+49G>C)
c.880+49G>C (n.880+49G>C)
c.889+49G>C (n.889+49G>C)
c.865+49G>C (n.865+49G>C)
c.877+49G>C (n.877+49G>C)
 gnomAD v4
1g.17000197C>TCA637430ATP13A2c.907+49G>A (n.907+49G>A)
c.892+49G>A (n.892+49G>A)
n.515+49G>A
n.46+49G>A
c.67+49G>A (n.67+49G>A)
c.830+49G>A
c.46+49G>A (n.46+49G>A)
c.904+49G>A (n.904+49G>A)
c.880+49G>A (n.880+49G>A)
c.889+49G>A (n.889+49G>A)
c.865+49G>A (n.865+49G>A)
c.877+49G>A (n.877+49G>A)
 dbSNP ExAC gnomAD v4
1g.17000198_17000199insACCCA2643676556ATP13A2c.907+49_907+50insTGG (n.907+49_907+50insTGG)
c.892+49_892+50insTGG (n.892+49_892+50insTGG)
n.515+49_515+50insTGG
n.46+49_46+50insTGG
c.67+49_67+50insTGG (n.67+49_67+50insTGG)
c.830+49_830+50insTGG
c.46+49_46+50insTGG (n.46+49_46+50insTGG)
c.904+49_904+50insTGG (n.904+49_904+50insTGG)
c.880+49_880+50insTGG (n.880+49_880+50insTGG)
c.889+49_889+50insTGG (n.889+49_889+50insTGG)
c.865+49_865+50insTGG (n.865+49_865+50insTGG)
c.877+49_877+50insTGG (n.877+49_877+50insTGG)
 gnomAD v4
1g.17000198_17000199insTCCCA2643676558ATP13A2c.907+49_907+50insAGG (n.907+49_907+50insAGG)
c.892+49_892+50insAGG (n.892+49_892+50insAGG)
n.515+49_515+50insAGG
n.46+49_46+50insAGG
c.67+49_67+50insAGG (n.67+49_67+50insAGG)
c.830+49_830+50insAGG
c.46+49_46+50insAGG (n.46+49_46+50insAGG)
c.904+49_904+50insAGG (n.904+49_904+50insAGG)
c.880+49_880+50insAGG (n.880+49_880+50insAGG)
c.889+49_889+50insAGG (n.889+49_889+50insAGG)
c.865+49_865+50insAGG (n.865+49_865+50insAGG)
c.877+49_877+50insAGG (n.877+49_877+50insAGG)
 gnomAD v4
1g.17000198C>ACA521449785ATP13A2c.907+48G>T (n.907+48G>T)
c.892+48G>T (n.892+48G>T)
n.515+48G>T
n.46+48G>T
c.67+48G>T (n.67+48G>T)
c.830+48G>T
c.46+48G>T (n.46+48G>T)
c.904+48G>T (n.904+48G>T)
c.880+48G>T (n.880+48G>T)
c.889+48G>T (n.889+48G>T)
c.865+48G>T (n.865+48G>T)
c.877+48G>T (n.877+48G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.17000198C=CA1156038718ATP13A2c.907+48G= (n.907+48G=)
c.892+48G= (n.892+48G=)
n.515+48G=
n.46+48G=
c.67+48G= (n.67+48G=)
c.830+48G=
c.46+48G= (n.46+48G=)
c.904+48G= (n.904+48G=)
c.880+48G= (n.880+48G=)
c.889+48G= (n.889+48G=)
c.865+48G= (n.865+48G=)
c.877+48G= (n.877+48G=)
1g.17000198C>GCA2643676571ATP13A2c.907+48G>C (n.907+48G>C)
c.892+48G>C (n.892+48G>C)
n.515+48G>C
n.46+48G>C
c.67+48G>C (n.67+48G>C)
c.830+48G>C
c.46+48G>C (n.46+48G>C)
c.904+48G>C (n.904+48G>C)
c.880+48G>C (n.880+48G>C)
c.889+48G>C (n.889+48G>C)
c.865+48G>C (n.865+48G>C)
c.877+48G>C (n.877+48G>C)
 gnomAD v4
1g.17000199C>ACA637431ATP13A2c.907+47G>T (n.907+47G>T)
c.892+47G>T (n.892+47G>T)
n.515+47G>T
n.46+47G>T
c.67+47G>T (n.67+47G>T)
c.830+47G>T
c.46+47G>T (n.46+47G>T)
c.904+47G>T (n.904+47G>T)
c.880+47G>T (n.880+47G>T)
c.889+47G>T (n.889+47G>T)
c.865+47G>T (n.865+47G>T)
c.877+47G>T (n.877+47G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17000199C=CA1156038721ATP13A2c.907+47G= (n.907+47G=)
c.892+47G= (n.892+47G=)
n.515+47G=
n.46+47G=
c.67+47G= (n.67+47G=)
c.830+47G=
c.46+47G= (n.46+47G=)
c.904+47G= (n.904+47G=)
c.880+47G= (n.880+47G=)
c.889+47G= (n.889+47G=)
c.865+47G= (n.865+47G=)
c.877+47G= (n.877+47G=)
1g.17000199C>GCA521449786ATP13A2c.907+47G>C (n.907+47G>C)
c.892+47G>C (n.892+47G>C)
n.515+47G>C
n.46+47G>C
c.67+47G>C (n.67+47G>C)
c.830+47G>C
c.46+47G>C (n.46+47G>C)
c.904+47G>C (n.904+47G>C)
c.880+47G>C (n.880+47G>C)
c.889+47G>C (n.889+47G>C)
c.865+47G>C (n.865+47G>C)
c.877+47G>C (n.877+47G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.17000199C>TCA890970776ATP13A2c.907+47G>A (n.907+47G>A)
c.892+47G>A (n.892+47G>A)
n.515+47G>A
n.46+47G>A
c.67+47G>A (n.67+47G>A)
c.830+47G>A
c.46+47G>A (n.46+47G>A)
c.904+47G>A (n.904+47G>A)
c.880+47G>A (n.880+47G>A)
c.889+47G>A (n.889+47G>A)
c.865+47G>A (n.865+47G>A)
c.877+47G>A (n.877+47G>A)
 dbSNP gnomAD v4
1g.17000200_17000201insACCCA2643676577ATP13A2c.907+47_907+48insTGG (n.907+47_907+48insTGG)
c.892+47_892+48insTGG (n.892+47_892+48insTGG)
n.515+47_515+48insTGG
n.46+47_46+48insTGG
c.67+47_67+48insTGG (n.67+47_67+48insTGG)
c.830+47_830+48insTGG
c.46+47_46+48insTGG (n.46+47_46+48insTGG)
c.904+47_904+48insTGG (n.904+47_904+48insTGG)
c.880+47_880+48insTGG (n.880+47_880+48insTGG)
c.889+47_889+48insTGG (n.889+47_889+48insTGG)
c.865+47_865+48insTGG (n.865+47_865+48insTGG)
c.877+47_877+48insTGG (n.877+47_877+48insTGG)
 gnomAD v4
1g.17000200C>ACA2528891452ATP13A2c.907+46G>T (n.907+46G>T)
c.892+46G>T (n.892+46G>T)
n.515+46G>T
n.46+46G>T
c.67+46G>T (n.67+46G>T)
c.830+46G>T
c.46+46G>T (n.46+46G>T)
c.904+46G>T (n.904+46G>T)
c.880+46G>T (n.880+46G>T)
c.889+46G>T (n.889+46G>T)
c.865+46G>T (n.865+46G>T)
c.877+46G>T (n.877+46G>T)
 gnomAD v4
1g.17000200C=CA1143969520ATP13A2c.907+46G= (n.907+46G=)
c.892+46G= (n.892+46G=)
n.515+46G=
n.46+46G=
c.67+46G= (n.67+46G=)
c.830+46G=
c.46+46G= (n.46+46G=)
c.904+46G= (n.904+46G=)
c.880+46G= (n.880+46G=)
c.889+46G= (n.889+46G=)
c.865+46G= (n.865+46G=)
c.877+46G= (n.877+46G=)
1g.17000200C>GCA2643676582ATP13A2c.907+46G>C (n.907+46G>C)
c.892+46G>C (n.892+46G>C)
n.515+46G>C
n.46+46G>C
c.67+46G>C (n.67+46G>C)
c.830+46G>C
c.46+46G>C (n.46+46G>C)
c.904+46G>C (n.904+46G>C)
c.880+46G>C (n.880+46G>C)
c.889+46G>C (n.889+46G>C)
c.865+46G>C (n.865+46G>C)
c.877+46G>C (n.877+46G>C)
 gnomAD v4
1g.17000200C>TCA637432ATP13A2c.907+46G>A (n.907+46G>A)
c.892+46G>A (n.892+46G>A)
n.515+46G>A
n.46+46G>A
c.67+46G>A (n.67+46G>A)
c.830+46G>A
c.46+46G>A (n.46+46G>A)
c.904+46G>A (n.904+46G>A)
c.880+46G>A (n.880+46G>A)
c.889+46G>A (n.889+46G>A)
c.865+46G>A (n.865+46G>A)
c.877+46G>A (n.877+46G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17000200_17000202delinsCCACA1156038724ATP13A2c.907+44_907+46delinsTGG (n.907+44_907+46delinsTGG)
c.892+44_892+46delinsTGG (n.892+44_892+46delinsTGG)
n.515+44_515+46delinsTGG
n.46+44_46+46delinsTGG
c.67+44_67+46delinsTGG (n.67+44_67+46delinsTGG)
c.830+44_830+46delinsTGG
c.46+44_46+46delinsTGG (n.46+44_46+46delinsTGG)
c.904+44_904+46delinsTGG (n.904+44_904+46delinsTGG)
c.880+44_880+46delinsTGG (n.880+44_880+46delinsTGG)
c.889+44_889+46delinsTGG (n.889+44_889+46delinsTGG)
c.865+44_865+46delinsTGG (n.865+44_865+46delinsTGG)
c.877+44_877+46delinsTGG (n.877+44_877+46delinsTGG)
1g.17000201C>ACA637433ATP13A2c.907+45G>T (n.907+45G>T)
c.892+45G>T (n.892+45G>T)
n.515+45G>T
n.46+45G>T
c.67+45G>T (n.67+45G>T)
c.830+45G>T
c.46+45G>T (n.46+45G>T)
c.904+45G>T (n.904+45G>T)
c.880+45G>T (n.880+45G>T)
c.889+45G>T (n.889+45G>T)
c.865+45G>T (n.865+45G>T)
c.877+45G>T (n.877+45G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17000201C=CA1156038748ATP13A2c.907+45G= (n.907+45G=)
c.892+45G= (n.892+45G=)
n.515+45G=
n.46+45G=
c.67+45G= (n.67+45G=)
c.830+45G=
c.46+45G= (n.46+45G=)
c.904+45G= (n.904+45G=)
c.880+45G= (n.880+45G=)
c.889+45G= (n.889+45G=)
c.865+45G= (n.865+45G=)
c.877+45G= (n.877+45G=)
1g.17000201C>GCA637435ATP13A2c.907+45G>C (n.907+45G>C)
c.892+45G>C (n.892+45G>C)
n.515+45G>C
n.46+45G>C
c.67+45G>C (n.67+45G>C)
c.830+45G>C
c.46+45G>C (n.46+45G>C)
c.904+45G>C (n.904+45G>C)
c.880+45G>C (n.880+45G>C)
c.889+45G>C (n.889+45G>C)
c.865+45G>C (n.865+45G>C)
c.877+45G>C (n.877+45G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17000201C>TCA637436ATP13A2c.907+45G>A (n.907+45G>A)
c.892+45G>A (n.892+45G>A)
n.515+45G>A
n.46+45G>A
c.67+45G>A (n.67+45G>A)
c.830+45G>A
c.46+45G>A (n.46+45G>A)
c.904+45G>A (n.904+45G>A)
c.880+45G>A (n.880+45G>A)
c.889+45G>A (n.889+45G>A)
c.865+45G>A (n.865+45G>A)
c.877+45G>A (n.877+45G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17000201_17000202insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCGGCCA2643676588ATP13A2c.907+45_907+46insCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.907+45_907+46insCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.892+45_892+46insCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.892+45_892+46insCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
n.515+45_515+46insCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
n.46+45_46+46insCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
c.67+45_67+46insCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.67+45_67+46insCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.830+45_830+46insCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
c.46+45_46+46insCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.46+45_46+46insCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.904+45_904+46insCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.904+45_904+46insCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.880+45_880+46insCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.880+45_880+46insCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.889+45_889+46insCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.889+45_889+46insCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.865+45_865+46insCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.865+45_865+46insCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.877+45_877+46insCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.877+45_877+46insCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
 gnomAD v4
1g.17000201_17000202delinsCACA1156038741ATP13A2c.907+44_907+45delinsTG (n.907+44_907+45delinsTG)
c.892+44_892+45delinsTG (n.892+44_892+45delinsTG)
n.515+44_515+45delinsTG
n.46+44_46+45delinsTG
c.67+44_67+45delinsTG (n.67+44_67+45delinsTG)
c.830+44_830+45delinsTG
c.46+44_46+45delinsTG (n.46+44_46+45delinsTG)
c.904+44_904+45delinsTG (n.904+44_904+45delinsTG)
c.880+44_880+45delinsTG (n.880+44_880+45delinsTG)
c.889+44_889+45delinsTG (n.889+44_889+45delinsTG)
c.865+44_865+45delinsTG (n.865+44_865+45delinsTG)
c.877+44_877+45delinsTG (n.877+44_877+45delinsTG)
1g.17000202_17000203insAACACACA2742637392ATP13A2c.907+45_907+46insTGTTTG (n.907+45_907+46insTGTTTG)
c.892+45_892+46insTGTTTG (n.892+45_892+46insTGTTTG)
n.515+45_515+46insTGTTTG
n.46+45_46+46insTGTTTG
c.67+45_67+46insTGTTTG (n.67+45_67+46insTGTTTG)
c.830+45_830+46insTGTTTG
c.46+45_46+46insTGTTTG (n.46+45_46+46insTGTTTG)
c.904+45_904+46insTGTTTG (n.904+45_904+46insTGTTTG)
c.880+45_880+46insTGTTTG (n.880+45_880+46insTGTTTG)
c.889+45_889+46insTGTTTG (n.889+45_889+46insTGTTTG)
c.865+45_865+46insTGTTTG (n.865+45_865+46insTGTTTG)
c.877+45_877+46insTGTTTG (n.877+45_877+46insTGTTTG)
1g.17000202_17000203delCA999067202ATP13A2c.907+44_907+45del (n.907+44_907+45del)
c.892+44_892+45del (n.892+44_892+45del)
n.515+44_515+45del
n.46+44_46+45del
c.67+44_67+45del (n.67+44_67+45del)
c.830+44_830+45del
c.46+44_46+45del (n.46+44_46+45del)
c.904+44_904+45del (n.904+44_904+45del)
c.880+44_880+45del (n.880+44_880+45del)
c.889+44_889+45del (n.889+44_889+45del)
c.865+44_865+45del (n.865+44_865+45del)
c.877+44_877+45del (n.877+44_877+45del)
 dbSNP gnomAD v3 gnomAD v4
1g.17000201_17000216delinsCACCCTCCCACTCCTGCA1156038739ATP13A2c.907+30_907+45delinsCAGGAGTGGGAGGGTG (n.907+30_907+45delinsCAGGAGTGGGAGGGTG)
c.892+30_892+45delinsCAGGAGTGGGAGGGTG (n.892+30_892+45delinsCAGGAGTGGGAGGGTG)
n.515+30_515+45delinsCAGGAGTGGGAGGGTG
n.46+30_46+45delinsCAGGAGTGGGAGGGTG
c.67+30_67+45delinsCAGGAGTGGGAGGGTG (n.67+30_67+45delinsCAGGAGTGGGAGGGTG)
c.830+30_830+45delinsCAGGAGTGGGAGGGTG
c.46+30_46+45delinsCAGGAGTGGGAGGGTG (n.46+30_46+45delinsCAGGAGTGGGAGGGTG)
c.904+30_904+45delinsCAGGAGTGGGAGGGTG (n.904+30_904+45delinsCAGGAGTGGGAGGGTG)
c.880+30_880+45delinsCAGGAGTGGGAGGGTG (n.880+30_880+45delinsCAGGAGTGGGAGGGTG)
c.889+30_889+45delinsCAGGAGTGGGAGGGTG (n.889+30_889+45delinsCAGGAGTGGGAGGGTG)
c.865+30_865+45delinsCAGGAGTGGGAGGGTG (n.865+30_865+45delinsCAGGAGTGGGAGGGTG)
c.877+30_877+45delinsCAGGAGTGGGAGGGTG (n.877+30_877+45delinsCAGGAGTGGGAGGGTG)
1g.17000202delCA521449787ATP13A2c.907+44del (n.907+44del)
c.892+44del (n.892+44del)
n.515+44del
n.46+44del
c.67+44del (n.67+44del)
c.830+44del
c.46+44del (n.46+44del)
c.904+44del (n.904+44del)
c.880+44del (n.880+44del)
c.889+44del (n.889+44del)
c.865+44del (n.865+44del)
c.877+44del (n.877+44del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.17000202A=CA1156038759ATP13A2c.907+44T= (n.907+44T=)
c.892+44T= (n.892+44T=)
n.515+44T=
n.46+44T=
c.67+44T= (n.67+44T=)
c.830+44T=
c.46+44T= (n.46+44T=)
c.904+44T= (n.904+44T=)
c.880+44T= (n.880+44T=)
c.889+44T= (n.889+44T=)
c.865+44T= (n.865+44T=)
c.877+44T= (n.877+44T=)
1g.17000202A>CCA637437ATP13A2c.907+44T>G (n.907+44T>G)
c.892+44T>G (n.892+44T>G)
n.515+44T>G
n.46+44T>G
c.67+44T>G (n.67+44T>G)
c.830+44T>G
c.46+44T>G (n.46+44T>G)
c.904+44T>G (n.904+44T>G)
c.880+44T>G (n.880+44T>G)
c.889+44T>G (n.889+44T>G)
c.865+44T>G (n.865+44T>G)
c.877+44T>G (n.877+44T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17000202A>TCA2742637393ATP13A2c.907+44T>A (n.907+44T>A)
c.892+44T>A (n.892+44T>A)
n.515+44T>A
n.46+44T>A
c.67+44T>A (n.67+44T>A)
c.830+44T>A
c.46+44T>A (n.46+44T>A)
c.904+44T>A (n.904+44T>A)
c.880+44T>A (n.880+44T>A)
c.889+44T>A (n.889+44T>A)
c.865+44T>A (n.865+44T>A)
c.877+44T>A (n.877+44T>A)
1g.17000202dupCA2574235305ATP13A2c.907+44dup (n.907+44dup)
c.892+44dup (n.892+44dup)
n.515+44dup
n.46+44dup
c.67+44dup (n.67+44dup)
c.830+44dup
c.46+44dup (n.46+44dup)
c.904+44dup (n.904+44dup)
c.880+44dup (n.880+44dup)
c.889+44dup (n.889+44dup)
c.865+44dup (n.865+44dup)
c.877+44dup (n.877+44dup)
1g.17000202_17000216delCA637434ATP13A2c.907+30_907+44del (n.907+30_907+44del)
c.892+30_892+44del (n.892+30_892+44del)
n.515+30_515+44del
n.46+30_46+44del
c.67+30_67+44del (n.67+30_67+44del)
c.830+30_830+44del
c.46+30_46+44del (n.46+30_46+44del)
c.904+30_904+44del (n.904+30_904+44del)
c.880+30_880+44del (n.880+30_880+44del)
c.889+30_889+44del (n.889+30_889+44del)
c.865+30_865+44del (n.865+30_865+44del)
c.877+30_877+44del (n.877+30_877+44del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17000203C>TCA2643676608ATP13A2c.907+43G>A (n.907+43G>A)
c.892+43G>A (n.892+43G>A)
n.515+43G>A
n.46+43G>A
c.67+43G>A (n.67+43G>A)
c.830+43G>A
c.46+43G>A (n.46+43G>A)
c.904+43G>A (n.904+43G>A)
c.880+43G>A (n.880+43G>A)
c.889+43G>A (n.889+43G>A)
c.865+43G>A (n.865+43G>A)
c.877+43G>A (n.877+43G>A)
 gnomAD v4
1g.17000205dupCA2643676606ATP13A2c.907+43dup (n.907+43dup)
c.892+43dup (n.892+43dup)
n.515+43dup
n.46+43dup
c.67+43dup (n.67+43dup)
c.830+43dup
c.46+43dup (n.46+43dup)
c.904+43dup (n.904+43dup)
c.880+43dup (n.880+43dup)
c.889+43dup (n.889+43dup)
c.865+43dup (n.865+43dup)
c.877+43dup (n.877+43dup)
 gnomAD v4
1g.17000204_17000205insACA2742637394ATP13A2c.907+41_907+42insT (n.907+41_907+42insT)
c.892+41_892+42insT (n.892+41_892+42insT)
n.515+41_515+42insT
n.46+41_46+42insT
c.67+41_67+42insT (n.67+41_67+42insT)
c.830+41_830+42insT
c.46+41_46+42insT (n.46+41_46+42insT)
c.904+41_904+42insT (n.904+41_904+42insT)
c.880+41_880+42insT (n.880+41_880+42insT)
c.889+41_889+42insT (n.889+41_889+42insT)
c.865+41_865+42insT (n.865+41_865+42insT)
c.877+41_877+42insT (n.877+41_877+42insT)
1g.17000205C>ACA2643676618ATP13A2c.907+41G>T (n.907+41G>T)
c.892+41G>T (n.892+41G>T)
n.515+41G>T
n.46+41G>T
c.67+41G>T (n.67+41G>T)
c.830+41G>T
c.46+41G>T (n.46+41G>T)
c.904+41G>T (n.904+41G>T)
c.880+41G>T (n.880+41G>T)
c.889+41G>T (n.889+41G>T)
c.865+41G>T (n.865+41G>T)
c.877+41G>T (n.877+41G>T)
 gnomAD v4
1g.17000205C=CA1156038768ATP13A2c.907+41G= (n.907+41G=)
c.892+41G= (n.892+41G=)
n.515+41G=
n.46+41G=
c.67+41G= (n.67+41G=)
c.830+41G=
c.46+41G= (n.46+41G=)
c.904+41G= (n.904+41G=)
c.880+41G= (n.880+41G=)
c.889+41G= (n.889+41G=)
c.865+41G= (n.865+41G=)
c.877+41G= (n.877+41G=)
1g.17000205C>GCA2574235352ATP13A2c.907+41G>C (n.907+41G>C)
c.892+41G>C (n.892+41G>C)
n.515+41G>C
n.46+41G>C
c.67+41G>C (n.67+41G>C)
c.830+41G>C
c.46+41G>C (n.46+41G>C)
c.904+41G>C (n.904+41G>C)
c.880+41G>C (n.880+41G>C)
c.889+41G>C (n.889+41G>C)
c.865+41G>C (n.865+41G>C)
c.877+41G>C (n.877+41G>C)
 gnomAD v4
1g.17000205C>TCA637439ATP13A2c.907+41G>A (n.907+41G>A)
c.892+41G>A (n.892+41G>A)
n.515+41G>A
n.46+41G>A
c.67+41G>A (n.67+41G>A)
c.830+41G>A
c.46+41G>A (n.46+41G>A)
c.904+41G>A (n.904+41G>A)
c.880+41G>A (n.880+41G>A)
c.889+41G>A (n.889+41G>A)
c.865+41G>A (n.865+41G>A)
c.877+41G>A (n.877+41G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17000205_17000206insCCCCCCCCCCCCCCCCCCCCCCCCCGGCCA2643676615ATP13A2c.907+41_907+42insCCGGGGGGGGGGGGGGGGGGGGGGGGGG (n.907+41_907+42insCCGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.892+41_892+42insCCGGGGGGGGGGGGGGGGGGGGGGGGGG (n.892+41_892+42insCCGGGGGGGGGGGGGGGGGGGGGGGGGG)
n.515+41_515+42insCCGGGGGGGGGGGGGGGGGGGGGGGGGG
n.46+41_46+42insCCGGGGGGGGGGGGGGGGGGGGGGGGGG
c.67+41_67+42insCCGGGGGGGGGGGGGGGGGGGGGGGGGG (n.67+41_67+42insCCGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.830+41_830+42insCCGGGGGGGGGGGGGGGGGGGGGGGGGG
c.46+41_46+42insCCGGGGGGGGGGGGGGGGGGGGGGGGGG (n.46+41_46+42insCCGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.904+41_904+42insCCGGGGGGGGGGGGGGGGGGGGGGGGGG (n.904+41_904+42insCCGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.880+41_880+42insCCGGGGGGGGGGGGGGGGGGGGGGGGGG (n.880+41_880+42insCCGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.889+41_889+42insCCGGGGGGGGGGGGGGGGGGGGGGGGGG (n.889+41_889+42insCCGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.865+41_865+42insCCGGGGGGGGGGGGGGGGGGGGGGGGGG (n.865+41_865+42insCCGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.877+41_877+42insCCGGGGGGGGGGGGGGGGGGGGGGGGGG (n.877+41_877+42insCCGGGGGGGGGGGGGGGGGGGGGGGGGG)
 gnomAD v4
1g.17000205_17000206delinsCTCA1156038774ATP13A2c.907+40_907+41delinsAG (n.907+40_907+41delinsAG)
c.892+40_892+41delinsAG (n.892+40_892+41delinsAG)
n.515+40_515+41delinsAG
n.46+40_46+41delinsAG
c.67+40_67+41delinsAG (n.67+40_67+41delinsAG)
c.830+40_830+41delinsAG
c.46+40_46+41delinsAG (n.46+40_46+41delinsAG)
c.904+40_904+41delinsAG (n.904+40_904+41delinsAG)
c.880+40_880+41delinsAG (n.880+40_880+41delinsAG)
c.889+40_889+41delinsAG (n.889+40_889+41delinsAG)
c.865+40_865+41delinsAG (n.865+40_865+41delinsAG)
c.877+40_877+41delinsAG (n.877+40_877+41delinsAG)
1g.17000206_17000207delCA2643676617ATP13A2c.907+40_907+41del (n.907+40_907+41del)
c.892+40_892+41del (n.892+40_892+41del)
n.515+40_515+41del
n.46+40_46+41del
c.67+40_67+41del (n.67+40_67+41del)
c.830+40_830+41del
c.46+40_46+41del (n.46+40_46+41del)
c.904+40_904+41del (n.904+40_904+41del)
c.880+40_880+41del (n.880+40_880+41del)
c.889+40_889+41del (n.889+40_889+41del)
c.865+40_865+41del (n.865+40_865+41del)
c.877+40_877+41del (n.877+40_877+41del)
 gnomAD v4
1g.17000205_17000216delinsCTCCCACTCCTGCA1156038771ATP13A2c.907+30_907+41delinsCAGGAGTGGGAG (n.907+30_907+41delinsCAGGAGTGGGAG)
c.892+30_892+41delinsCAGGAGTGGGAG (n.892+30_892+41delinsCAGGAGTGGGAG)
n.515+30_515+41delinsCAGGAGTGGGAG
n.46+30_46+41delinsCAGGAGTGGGAG
c.67+30_67+41delinsCAGGAGTGGGAG (n.67+30_67+41delinsCAGGAGTGGGAG)
c.830+30_830+41delinsCAGGAGTGGGAG
c.46+30_46+41delinsCAGGAGTGGGAG (n.46+30_46+41delinsCAGGAGTGGGAG)
c.904+30_904+41delinsCAGGAGTGGGAG (n.904+30_904+41delinsCAGGAGTGGGAG)
c.880+30_880+41delinsCAGGAGTGGGAG (n.880+30_880+41delinsCAGGAGTGGGAG)
c.889+30_889+41delinsCAGGAGTGGGAG (n.889+30_889+41delinsCAGGAGTGGGAG)
c.865+30_865+41delinsCAGGAGTGGGAG (n.865+30_865+41delinsCAGGAGTGGGAG)
c.877+30_877+41delinsCAGGAGTGGGAG (n.877+30_877+41delinsCAGGAGTGGGAG)
1g.17000205_17000206insACA2742637395ATP13A2c.907+40_907+41insT (n.907+40_907+41insT)
c.892+40_892+41insT (n.892+40_892+41insT)
n.515+40_515+41insT
n.46+40_46+41insT
c.67+40_67+41insT (n.67+40_67+41insT)
c.830+40_830+41insT
c.46+40_46+41insT (n.46+40_46+41insT)
c.904+40_904+41insT (n.904+40_904+41insT)
c.880+40_880+41insT (n.880+40_880+41insT)
c.889+40_889+41insT (n.889+40_889+41insT)
c.865+40_865+41insT (n.865+40_865+41insT)
c.877+40_877+41insT (n.877+40_877+41insT)
1g.17000206delCA521449788ATP13A2c.907+40del (n.907+40del)
c.892+40del (n.892+40del)
n.515+40del
n.46+40del
c.67+40del (n.67+40del)
c.830+40del
c.46+40del (n.46+40del)
c.904+40del (n.904+40del)
c.880+40del (n.880+40del)
c.889+40del (n.889+40del)
c.865+40del (n.865+40del)
c.877+40del (n.877+40del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.17000206T>ACA2643676621ATP13A2c.907+40A>T (n.907+40A>T)
c.892+40A>T (n.892+40A>T)
n.515+40A>T
n.46+40A>T
c.67+40A>T (n.67+40A>T)
c.830+40A>T
c.46+40A>T (n.46+40A>T)
c.904+40A>T (n.904+40A>T)
c.880+40A>T (n.880+40A>T)
c.889+40A>T (n.889+40A>T)
c.865+40A>T (n.865+40A>T)
c.877+40A>T (n.877+40A>T)
 gnomAD v4
1g.17000206T>CCA637440ATP13A2c.907+40A>G (n.907+40A>G)
c.892+40A>G (n.892+40A>G)
n.515+40A>G
n.46+40A>G
c.67+40A>G (n.67+40A>G)
c.830+40A>G
c.46+40A>G (n.46+40A>G)
c.904+40A>G (n.904+40A>G)
c.880+40A>G (n.880+40A>G)
c.889+40A>G (n.889+40A>G)
c.865+40A>G (n.865+40A>G)
c.877+40A>G (n.877+40A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17000206T=CA1156038788ATP13A2c.907+40A= (n.907+40A=)
c.892+40A= (n.892+40A=)
n.515+40A=
n.46+40A=
c.67+40A= (n.67+40A=)
c.830+40A=
c.46+40A= (n.46+40A=)
c.904+40A= (n.904+40A=)
c.880+40A= (n.880+40A=)
c.889+40A= (n.889+40A=)
c.865+40A= (n.865+40A=)
c.877+40A= (n.877+40A=)
1g.17000206_17000207delinsTCCA1156038784ATP13A2c.907+39_907+40delinsGA (n.907+39_907+40delinsGA)
c.892+39_892+40delinsGA (n.892+39_892+40delinsGA)
n.515+39_515+40delinsGA
n.46+39_46+40delinsGA
c.67+39_67+40delinsGA (n.67+39_67+40delinsGA)
c.830+39_830+40delinsGA
c.46+39_46+40delinsGA (n.46+39_46+40delinsGA)
c.904+39_904+40delinsGA (n.904+39_904+40delinsGA)
c.880+39_880+40delinsGA (n.880+39_880+40delinsGA)
c.889+39_889+40delinsGA (n.889+39_889+40delinsGA)
c.865+39_865+40delinsGA (n.865+39_865+40delinsGA)
c.877+39_877+40delinsGA (n.877+39_877+40delinsGA)
1g.17000206_17000216delCA637438ATP13A2c.907+30_907+40del (n.907+30_907+40del)
c.892+30_892+40del (n.892+30_892+40del)
n.515+30_515+40del
n.46+30_46+40del
c.67+30_67+40del (n.67+30_67+40del)
c.830+30_830+40del
c.46+30_46+40del (n.46+30_46+40del)
c.904+30_904+40del (n.904+30_904+40del)
c.880+30_880+40del (n.880+30_880+40del)
c.889+30_889+40del (n.889+30_889+40del)
c.865+30_865+40del (n.865+30_865+40del)
c.877+30_877+40del (n.877+30_877+40del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17000207C>ACA2643676638ATP13A2c.907+39G>T (n.907+39G>T)
c.892+39G>T (n.892+39G>T)
n.515+39G>T
n.46+39G>T
c.67+39G>T (n.67+39G>T)
c.830+39G>T
c.46+39G>T (n.46+39G>T)
c.904+39G>T (n.904+39G>T)
c.880+39G>T (n.880+39G>T)
c.889+39G>T (n.889+39G>T)
c.865+39G>T (n.865+39G>T)
c.877+39G>T (n.877+39G>T)
 gnomAD v4
1g.17000209_17000210insCCCCCCCCCCCA2643676637ATP13A2c.907+39_907+40insGGGGGGGGGG (n.907+39_907+40insGGGGGGGGGG)
c.892+39_892+40insGGGGGGGGGG (n.892+39_892+40insGGGGGGGGGG)
n.515+39_515+40insGGGGGGGGGG
n.46+39_46+40insGGGGGGGGGG
c.67+39_67+40insGGGGGGGGGG (n.67+39_67+40insGGGGGGGGGG)
c.830+39_830+40insGGGGGGGGGG
c.46+39_46+40insGGGGGGGGGG (n.46+39_46+40insGGGGGGGGGG)
c.904+39_904+40insGGGGGGGGGG (n.904+39_904+40insGGGGGGGGGG)
c.880+39_880+40insGGGGGGGGGG (n.880+39_880+40insGGGGGGGGGG)
c.889+39_889+40insGGGGGGGGGG (n.889+39_889+40insGGGGGGGGGG)
c.865+39_865+40insGGGGGGGGGG (n.865+39_865+40insGGGGGGGGGG)
c.877+39_877+40insGGGGGGGGGG (n.877+39_877+40insGGGGGGGGGG)
 gnomAD v4
1g.17000209dupCA2643676636ATP13A2c.907+39dup (n.907+39dup)
c.892+39dup (n.892+39dup)
n.515+39dup
n.46+39dup
c.67+39dup (n.67+39dup)
c.830+39dup
c.46+39dup (n.46+39dup)
c.904+39dup (n.904+39dup)
c.880+39dup (n.880+39dup)
c.889+39dup (n.889+39dup)
c.865+39dup (n.865+39dup)
c.877+39dup (n.877+39dup)
 gnomAD v4
1g.17000209delCA1156038789ATP13A2c.907+39del (n.907+39del)
c.892+39del (n.892+39del)
n.515+39del
n.46+39del
c.67+39del (n.67+39del)
c.830+39del
c.46+39del (n.46+39del)
c.904+39del (n.904+39del)
c.880+39del (n.880+39del)
c.889+39del (n.889+39del)
c.865+39del (n.865+39del)
c.877+39del (n.877+39del)
 dbSNP

Number of alleles fetched