Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.17004676C>ACA416070669ATP13A2c.477+16G>T (n.477+16G>T)
c.462+31G>T (n.462+31G>T)
c.196+31G>T
c.439+31G>T
c.403+16G>T
c.189+16G>T (n.189+16G>T)
c.-385+31G>T (n.-385+31G>T)
 gnomAD v4
1g.17004676C>GCA416070670ATP13A2c.477+16G>C (n.477+16G>C)
c.462+31G>C (n.462+31G>C)
c.196+31G>C
c.439+31G>C
c.403+16G>C
c.189+16G>C (n.189+16G>C)
c.-385+31G>C (n.-385+31G>C)
1g.17004676C>TCA416070671ATP13A2c.477+16G>A (n.477+16G>A)
c.462+31G>A (n.462+31G>A)
c.196+31G>A
c.439+31G>A
c.403+16G>A
c.189+16G>A (n.189+16G>A)
c.-385+31G>A (n.-385+31G>A)
1g.17004677T>ACA416070672ATP13A2c.477+15A>T (n.477+15A>T)
c.462+30A>T (n.462+30A>T)
c.196+30A>T
c.439+30A>T
c.403+15A>T
c.189+15A>T (n.189+15A>T)
c.-385+30A>T (n.-385+30A>T)
1g.17004677T>CCA18646119ATP13A2c.477+15A>G (n.477+15A>G)
c.462+30A>G (n.462+30A>G)
c.196+30A>G
c.439+30A>G
c.403+15A>G
c.189+15A>G (n.189+15A>G)
c.-385+30A>G (n.-385+30A>G)
 dbSNP gnomAD v2 gnomAD v4
1g.17004677T>GCA416070674ATP13A2c.477+15A>C (n.477+15A>C)
c.462+30A>C (n.462+30A>C)
c.196+30A>C
c.439+30A>C
c.403+15A>C
c.189+15A>C (n.189+15A>C)
c.-385+30A>C (n.-385+30A>C)
 dbSNP gnomAD v4
1g.17004677T=CA1156072371ATP13A2c.477+15A= (n.477+15A=)
c.462+30A= (n.462+30A=)
c.196+30A=
c.439+30A=
c.403+15A=
c.189+15A= (n.189+15A=)
c.-385+30A= (n.-385+30A=)
1g.17004678T>ACA416070684ATP13A2c.477+14A>T (n.477+14A>T)
c.462+29A>T (n.462+29A>T)
c.196+29A>T
c.439+29A>T
c.403+14A>T
c.189+14A>T (n.189+14A>T)
c.-385+29A>T (n.-385+29A>T)
1g.17004678T>CCA416070679ATP13A2c.477+14A>G (n.477+14A>G)
c.462+29A>G (n.462+29A>G)
c.196+29A>G
c.439+29A>G
c.403+14A>G
c.189+14A>G (n.189+14A>G)
c.-385+29A>G (n.-385+29A>G)
1g.17004678T>GCA416070676ATP13A2c.477+14A>C (n.477+14A>C)
c.462+29A>C (n.462+29A>C)
c.196+29A>C
c.439+29A>C
c.403+14A>C
c.189+14A>C (n.189+14A>C)
c.-385+29A>C (n.-385+29A>C)
1g.17004679T>ACA416070688ATP13A2c.477+13A>T (n.477+13A>T)
c.462+28A>T (n.462+28A>T)
c.196+28A>T
c.439+28A>T
c.403+13A>T
c.189+13A>T (n.189+13A>T)
c.-385+28A>T (n.-385+28A>T)
1g.17004679T>CCA416070690ATP13A2c.477+13A>G (n.477+13A>G)
c.462+28A>G (n.462+28A>G)
c.196+28A>G
c.439+28A>G
c.403+13A>G
c.189+13A>G (n.189+13A>G)
c.-385+28A>G (n.-385+28A>G)
1g.17004679T>GCA416070693ATP13A2c.477+13A>C (n.477+13A>C)
c.462+28A>C (n.462+28A>C)
c.196+28A>C
c.439+28A>C
c.403+13A>C
c.189+13A>C (n.189+13A>C)
c.-385+28A>C (n.-385+28A>C)
1g.17004680T>ACA416070696ATP13A2c.477+12A>T (n.477+12A>T)
c.462+27A>T (n.462+27A>T)
c.196+27A>T
c.439+27A>T
c.403+12A>T
c.189+12A>T (n.189+12A>T)
c.-385+27A>T (n.-385+27A>T)
1g.17004680T>CCA637635ATP13A2c.477+12A>G (n.477+12A>G)
c.462+27A>G (n.462+27A>G)
c.196+27A>G
c.439+27A>G
c.403+12A>G
c.189+12A>G (n.189+12A>G)
c.-385+27A>G (n.-385+27A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17004680T>GCA416070704ATP13A2c.477+12A>C (n.477+12A>C)
c.462+27A>C (n.462+27A>C)
c.196+27A>C
c.439+27A>C
c.403+12A>C
c.189+12A>C (n.189+12A>C)
c.-385+27A>C (n.-385+27A>C)
1g.17004680T=CA1143798614ATP13A2c.477+12A= (n.477+12A=)
c.462+27A= (n.462+27A=)
c.196+27A=
c.439+27A=
c.403+12A=
c.189+12A= (n.189+12A=)
c.-385+27A= (n.-385+27A=)
1g.17004681T>ACA416070705ATP13A2c.477+11A>T (n.477+11A>T)
c.462+26A>T (n.462+26A>T)
c.196+26A>T
c.439+26A>T
c.403+11A>T
c.189+11A>T (n.189+11A>T)
c.-385+26A>T (n.-385+26A>T)
1g.17004681T>CCA416070706ATP13A2c.477+11A>G (n.477+11A>G)
c.462+26A>G (n.462+26A>G)
c.196+26A>G
c.439+26A>G
c.403+11A>G
c.189+11A>G (n.189+11A>G)
c.-385+26A>G (n.-385+26A>G)
 gnomAD v4
1g.17004681T>GCA416070707ATP13A2c.477+11A>C (n.477+11A>C)
c.462+26A>C (n.462+26A>C)
c.196+26A>C
c.439+26A>C
c.403+11A>C
c.189+11A>C (n.189+11A>C)
c.-385+26A>C (n.-385+26A>C)
1g.17004682C>ACA416070710ATP13A2c.477+10G>T (n.477+10G>T)
c.462+25G>T (n.462+25G>T)
c.196+25G>T
c.439+25G>T
c.403+10G>T
c.189+10G>T (n.189+10G>T)
c.-385+25G>T (n.-385+25G>T)
1g.17004682C>GCA416070722ATP13A2c.477+10G>C (n.477+10G>C)
c.462+25G>C (n.462+25G>C)
c.196+25G>C
c.439+25G>C
c.403+10G>C
c.189+10G>C (n.189+10G>C)
c.-385+25G>C (n.-385+25G>C)
1g.17004682C>TCA416070718ATP13A2c.477+10G>A (n.477+10G>A)
c.462+25G>A (n.462+25G>A)
c.196+25G>A
c.439+25G>A
c.403+10G>A
c.189+10G>A (n.189+10G>A)
c.-385+25G>A (n.-385+25G>A)
1g.17004683A>CCA416070724ATP13A2c.477+9T>G (n.477+9T>G)
c.462+24T>G (n.462+24T>G)
c.196+24T>G
c.439+24T>G
c.403+9T>G
c.189+9T>G (n.189+9T>G)
c.-385+24T>G (n.-385+24T>G)
1g.17004683A>GCA416070730ATP13A2c.477+9T>C (n.477+9T>C)
c.462+24T>C (n.462+24T>C)
c.196+24T>C
c.439+24T>C
c.403+9T>C
c.189+9T>C (n.189+9T>C)
c.-385+24T>C (n.-385+24T>C)
1g.17004683A>TCA416070731ATP13A2c.477+9T>A (n.477+9T>A)
c.462+24T>A (n.462+24T>A)
c.196+24T>A
c.439+24T>A
c.403+9T>A
c.189+9T>A (n.189+9T>A)
c.-385+24T>A (n.-385+24T>A)
 gnomAD v4
1g.17004684G>ACA416070734ATP13A2c.477+8C>T (n.477+8C>T)
c.462+23C>T (n.462+23C>T)
c.196+23C>T
c.439+23C>T
c.403+8C>T
c.189+8C>T (n.189+8C>T)
c.-385+23C>T (n.-385+23C>T)
 dbSNP gnomAD v4
1g.17004684G>CCA416070739ATP13A2c.477+8C>G (n.477+8C>G)
c.462+23C>G (n.462+23C>G)
c.196+23C>G
c.439+23C>G
c.403+8C>G
c.189+8C>G (n.189+8C>G)
c.-385+23C>G (n.-385+23C>G)
1g.17004684G=CA1156072376ATP13A2c.477+8C= (n.477+8C=)
c.462+23C= (n.462+23C=)
c.196+23C=
c.439+23C=
c.403+8C=
c.189+8C= (n.189+8C=)
c.-385+23C= (n.-385+23C=)
1g.17004684G>TCA416070740ATP13A2c.477+8C>A (n.477+8C>A)
c.462+23C>A (n.462+23C>A)
c.196+23C>A
c.439+23C>A
c.403+8C>A
c.189+8C>A (n.189+8C>A)
c.-385+23C>A (n.-385+23C>A)
1g.17004685A>CCA416070747ATP13A2c.477+7T>G (n.477+7T>G)
c.462+22T>G (n.462+22T>G)
c.196+22T>G
c.439+22T>G
c.403+7T>G
c.189+7T>G (n.189+7T>G)
c.-385+22T>G (n.-385+22T>G)
1g.17004685A>GCA416070750ATP13A2c.477+7T>C (n.477+7T>C)
c.462+22T>C (n.462+22T>C)
c.196+22T>C
c.439+22T>C
c.403+7T>C
c.189+7T>C (n.189+7T>C)
c.-385+22T>C (n.-385+22T>C)
1g.17004685A>TCA416070745ATP13A2c.477+7T>A (n.477+7T>A)
c.462+22T>A (n.462+22T>A)
c.196+22T>A
c.439+22T>A
c.403+7T>A
c.189+7T>A (n.189+7T>A)
c.-385+22T>A (n.-385+22T>A)
1g.17004686A=CA1156072379ATP13A2c.477+6T= (n.477+6T=)
c.462+21T= (n.462+21T=)
c.196+21T=
c.439+21T=
c.403+6T=
c.189+6T= (n.189+6T=)
c.-385+21T= (n.-385+21T=)
1g.17004686A>CCA416070756ATP13A2c.477+6T>G (n.477+6T>G)
c.462+21T>G (n.462+21T>G)
c.196+21T>G
c.439+21T>G
c.403+6T>G
c.189+6T>G (n.189+6T>G)
c.-385+21T>G (n.-385+21T>G)
 dbSNP
1g.17004686A>GCA416070753ATP13A2c.477+6T>C (n.477+6T>C)
c.462+21T>C (n.462+21T>C)
c.196+21T>C
c.439+21T>C
c.403+6T>C
c.189+6T>C (n.189+6T>C)
c.-385+21T>C (n.-385+21T>C)
1g.17004686A>TCA416070759ATP13A2c.477+6T>A (n.477+6T>A)
c.462+21T>A (n.462+21T>A)
c.196+21T>A
c.439+21T>A
c.403+6T>A
c.189+6T>A (n.189+6T>A)
c.-385+21T>A (n.-385+21T>A)
1g.17004687C>ACA637637ATP13A2c.477+5G>T (n.477+5G>T)
c.462+20G>T (n.462+20G>T)
c.196+20G>T
c.439+20G>T
c.403+5G>T
c.189+5G>T (n.189+5G>T)
c.-385+20G>T (n.-385+20G>T)
 ClinVar dbSNP ExAC gnomAD v4
1g.17004687C=CA1144012015ATP13A2c.477+5G= (n.477+5G=)
c.462+20G= (n.462+20G=)
c.196+20G=
c.439+20G=
c.403+5G=
c.189+5G= (n.189+5G=)
c.-385+20G= (n.-385+20G=)
1g.17004687C>GCA416070763ATP13A2c.477+5G>C (n.477+5G>C)
c.462+20G>C (n.462+20G>C)
c.196+20G>C
c.439+20G>C
c.403+5G>C
c.189+5G>C (n.189+5G>C)
c.-385+20G>C (n.-385+20G>C)
1g.17004687C>TCA637636ATP13A2c.477+5G>A (n.477+5G>A)
c.462+20G>A (n.462+20G>A)
c.196+20G>A
c.439+20G>A
c.403+5G>A
c.189+5G>A (n.189+5G>A)
c.-385+20G>A (n.-385+20G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.17004688C>ACA18646163ATP13A2c.477+4G>T (n.477+4G>T)
c.462+19G>T (n.462+19G>T)
c.196+19G>T
c.439+19G>T
c.403+4G>T
c.189+4G>T (n.189+4G>T)
c.-385+19G>T (n.-385+19G>T)
 dbSNP
1g.17004688C=CA1156072385ATP13A2c.477+4G= (n.477+4G=)
c.462+19G= (n.462+19G=)
c.196+19G=
c.439+19G=
c.403+4G=
c.189+4G= (n.189+4G=)
c.-385+19G= (n.-385+19G=)
1g.17004688C>GCA416070770ATP13A2c.477+4G>C (n.477+4G>C)
c.462+19G>C (n.462+19G>C)
c.196+19G>C
c.439+19G>C
c.403+4G>C
c.189+4G>C (n.189+4G>C)
c.-385+19G>C (n.-385+19G>C)
1g.17004688C>TCA416070772ATP13A2c.477+4G>A (n.477+4G>A)
c.462+19G>A (n.462+19G>A)
c.196+19G>A
c.439+19G>A
c.403+4G>A
c.189+4G>A (n.189+4G>A)
c.-385+19G>A (n.-385+19G>A)
1g.17004689C>ACA416070779ATP13A2c.477+3G>T (n.477+3G>T)
c.462+18G>T (n.462+18G>T)
c.196+18G>T
c.439+18G>T
c.403+3G>T
c.189+3G>T (n.189+3G>T)
c.-385+18G>T (n.-385+18G>T)
 COSMIC
1g.17004689C>GCA416070782ATP13A2c.477+3G>C (n.477+3G>C)
c.462+18G>C (n.462+18G>C)
c.196+18G>C
c.439+18G>C
c.403+3G>C
c.189+3G>C (n.189+3G>C)
c.-385+18G>C (n.-385+18G>C)
1g.17004689C>TCA416070785ATP13A2c.477+3G>A (n.477+3G>A)
c.462+18G>A (n.462+18G>A)
c.196+18G>A
c.439+18G>A
c.403+3G>A
c.189+3G>A (n.189+3G>A)
c.-385+18G>A (n.-385+18G>A)
1g.17004690A=CA1156072389ATP13A2c.477+2T= (n.477+2T=)
c.462+17T= (n.462+17T=)
c.196+17T=
c.439+17T=
c.403+2T=
c.189+2T= (n.189+2T=)
c.-385+17T= (n.-385+17T=)
1g.17004690A>CCA637638ATP13A2c.477+2T>G (n.477+2T>G)
c.462+17T>G (n.462+17T>G)
c.196+17T>G
c.439+17T>G
c.403+2T>G
c.189+2T>G (n.189+2T>G)
c.-385+17T>G (n.-385+17T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17004690A>GCA338262846ATP13A2c.477+2T>C (n.477+2T>C)
c.462+17T>C (n.462+17T>C)
c.196+17T>C
c.439+17T>C
c.403+2T>C
c.189+2T>C (n.189+2T>C)
c.-385+17T>C (n.-385+17T>C)
1g.17004690A>TCA338262850ATP13A2c.477+2T>A (n.477+2T>A)
c.462+17T>A (n.462+17T>A)
c.196+17T>A
c.439+17T>A
c.403+2T>A
c.189+2T>A (n.189+2T>A)
c.-385+17T>A (n.-385+17T>A)
1g.17004691C>ACA338262855ATP13A2c.477+1G>T (n.477+1G>T)
c.462+16G>T (n.462+16G>T)
c.196+16G>T
c.439+16G>T
c.403+1G>T
c.189+1G>T (n.189+1G>T)
c.-385+16G>T (n.-385+16G>T)
1g.17004691C=CA1156072395ATP13A2c.477+1G= (n.477+1G=)
c.462+16G= (n.462+16G=)
c.196+16G=
c.439+16G=
c.403+1G=
c.189+1G= (n.189+1G=)
c.-385+16G= (n.-385+16G=)
1g.17004691C>GCA338262853ATP13A2c.477+1G>C (n.477+1G>C)
c.462+16G>C (n.462+16G>C)
c.196+16G>C
c.439+16G>C
c.403+1G>C
c.189+1G>C (n.189+1G>C)
c.-385+16G>C (n.-385+16G>C)
1g.17004691C>TCA18646183ATP13A2c.477+1G>A (n.477+1G>A)
c.462+16G>A (n.462+16G>A)
c.196+16G>A
c.439+16G>A
c.403+1G>A
c.189+1G>A (n.189+1G>A)
c.-385+16G>A (n.-385+16G>A)
 dbSNP
1g.17004692C>ACA338262857ATP13A2c.477G>T (p.Gln159His)
c.462+15G>T (n.462+15G>T)
c.196+15G>T
c.439+15G>T
c.403G>T
c.189G>T (p.Gln63His)
c.-385+15G>T (n.-385+15G>T)
1g.17004692C>GCA338262861ATP13A2c.477G>C (p.Gln159His)
c.462+15G>C (n.462+15G>C)
c.196+15G>C
c.439+15G>C
c.403G>C
c.189G>C (p.Gln63His)
c.-385+15G>C (n.-385+15G>C)
 gnomAD v4
1g.17004692C>TCA416070807ATP13A2c.477G>A (p.Gln159=)
c.462+15G>A (n.462+15G>A)
c.196+15G>A
c.439+15G>A
c.403G>A
c.189G>A (p.Gln63=)
c.-385+15G>A (n.-385+15G>A)
1g.17004693T>ACA338262863ATP13A2c.476A>T (p.Gln159Leu)
c.462+14A>T (n.462+14A>T)
c.196+14A>T
c.439+14A>T
c.402A>T
c.188A>T (p.Gln63Leu)
c.-385+14A>T (n.-385+14A>T)
1g.17004693T>CCA18646191ATP13A2c.476A>G (p.Gln159Arg)
c.462+14A>G (n.462+14A>G)
c.196+14A>G
c.439+14A>G
c.402A>G
c.188A>G (p.Gln63Arg)
c.-385+14A>G (n.-385+14A>G)
 dbSNP gnomAD v4
1g.17004693T>GCA338262883ATP13A2c.476A>C (p.Gln159Pro)
c.462+14A>C (n.462+14A>C)
c.196+14A>C
c.439+14A>C
c.402A>C
c.188A>C (p.Gln63Pro)
c.-385+14A>C (n.-385+14A>C)
1g.17004693T=CA1156072402ATP13A2c.476A= (p.Gln159=)
c.462+14A= (n.462+14A=)
c.196+14A=
c.439+14A=
c.402A=
c.188A= (p.Gln63=)
c.-385+14A= (n.-385+14A=)
1g.17004694G>ACA338262886ATP13A2c.475C>T (p.Gln159Ter)
c.462+13C>T (n.462+13C>T)
c.196+13C>T
c.439+13C>T
c.401C>T
c.187C>T (p.Gln63Ter)
c.-385+13C>T (n.-385+13C>T)
1g.17004694G>CCA338262899ATP13A2c.475C>G (p.Gln159Glu)
c.462+13C>G (n.462+13C>G)
c.196+13C>G
c.439+13C>G
c.401C>G
c.187C>G (p.Gln63Glu)
c.-385+13C>G (n.-385+13C>G)
1g.17004694G>TCA338262895ATP13A2c.475C>A (p.Gln159Lys)
c.462+13C>A (n.462+13C>A)
c.196+13C>A
c.439+13C>A
c.401C>A
c.187C>A (p.Gln63Lys)
c.-385+13C>A (n.-385+13C>A)
1g.17004695T>ACA416070819ATP13A2c.474A>T (p.Gly158=)
c.462+12A>T (n.462+12A>T)
c.196+12A>T
c.439+12A>T
c.400A>T
c.186A>T (p.Gly62=)
c.-385+12A>T (n.-385+12A>T)
1g.17004695T>CCA416070821ATP13A2c.474A>G (p.Gly158=)
c.462+12A>G (n.462+12A>G)
c.196+12A>G
c.439+12A>G
c.400A>G
c.186A>G (p.Gly62=)
c.-385+12A>G (n.-385+12A>G)
1g.17004695T>GCA416070823ATP13A2c.474A>C (p.Gly158=)
c.462+12A>C (n.462+12A>C)
c.196+12A>C
c.439+12A>C
c.400A>C
c.186A>C (p.Gly62=)
c.-385+12A>C (n.-385+12A>C)
1g.17004696C>ACA338262900ATP13A2c.473G>T (p.Gly158Val)
c.462+11G>T (n.462+11G>T)
c.196+11G>T
c.439+11G>T
c.399G>T
c.185G>T (p.Gly62Val)
c.-385+11G>T (n.-385+11G>T)
1g.17004696C>GCA338262901ATP13A2c.473G>C (p.Gly158Ala)
c.462+11G>C (n.462+11G>C)
c.196+11G>C
c.439+11G>C
c.399G>C
c.185G>C (p.Gly62Ala)
c.-385+11G>C (n.-385+11G>C)
1g.17004696C>TCA338262902ATP13A2c.473G>A (p.Gly158Glu)
c.462+11G>A (n.462+11G>A)
c.196+11G>A
c.439+11G>A
c.399G>A
c.185G>A (p.Gly62Glu)
c.-385+11G>A (n.-385+11G>A)
1g.17004697C>ACA338262903ATP13A2c.472G>T (p.Gly158Ter)
c.462+10G>T (n.462+10G>T)
c.196+10G>T
c.439+10G>T
c.398G>T
c.184G>T (p.Gly62Ter)
c.-385+10G>T (n.-385+10G>T)
1g.17004697C=CA1141349930ATP13A2c.472G= (p.Gly158=)
c.462+10G= (n.462+10G=)
c.196+10G=
c.439+10G=
c.398G=
c.184G= (p.Gly62=)
c.-385+10G= (n.-385+10G=)
1g.17004697C>GCA338262905ATP13A2c.472G>C (p.Gly158Arg)
c.462+10G>C (n.462+10G>C)
c.196+10G>C
c.439+10G>C
c.398G>C
c.184G>C (p.Gly62Arg)
c.-385+10G>C (n.-385+10G>C)
1g.17004697C>TCA637639ATP13A2c.472G>A (p.Gly158Arg)
c.462+10G>A (n.462+10G>A)
c.196+10G>A
c.439+10G>A
c.398G>A
c.184G>A (p.Gly62Arg)
c.-385+10G>A (n.-385+10G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17004698G>ACA637640ATP13A2c.471C>T (p.Val157=)
c.462+9C>T (n.462+9C>T)
c.196+9C>T
c.439+9C>T
c.397C>T
c.183C>T (p.Val61=)
c.-385+9C>T (n.-385+9C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17004698G>CCA416070844ATP13A2c.471C>G (p.Val157=)
c.462+9C>G (n.462+9C>G)
c.196+9C>G
c.439+9C>G
c.397C>G
c.183C>G (p.Val61=)
c.-385+9C>G (n.-385+9C>G)
1g.17004698G=CA1156072408ATP13A2c.471C= (p.Val157=)
c.462+9C= (n.462+9C=)
c.196+9C=
c.439+9C=
c.397C=
c.183C= (p.Val61=)
c.-385+9C= (n.-385+9C=)
1g.17004698G>TCA416070854ATP13A2c.471C>A (p.Val157=)
c.462+9C>A (n.462+9C>A)
c.196+9C>A
c.439+9C>A
c.397C>A
c.183C>A (p.Val61=)
c.-385+9C>A (n.-385+9C>A)
 gnomAD v4
1g.17004699A>CCA338262918ATP13A2c.470T>G (p.Val157Gly)
c.462+8T>G (n.462+8T>G)
c.196+8T>G
c.439+8T>G
c.396T>G
c.182T>G (p.Val61Gly)
c.-385+8T>G (n.-385+8T>G)
1g.17004699A>GCA338262919ATP13A2c.470T>C (p.Val157Ala)
c.462+8T>C (n.462+8T>C)
c.196+8T>C
c.439+8T>C
c.396T>C
c.182T>C (p.Val61Ala)
c.-385+8T>C (n.-385+8T>C)
1g.17004699A>TCA338262922ATP13A2c.470T>A (p.Val157Asp)
c.462+8T>A (n.462+8T>A)
c.196+8T>A
c.439+8T>A
c.396T>A
c.182T>A (p.Val61Asp)
c.-385+8T>A (n.-385+8T>A)
1g.17004700C>ACA338262942ATP13A2c.469G>T (p.Val157Phe)
c.462+7G>T (n.462+7G>T)
c.196+7G>T
c.439+7G>T
c.395G>T
c.181G>T (p.Val61Phe)
c.-385+7G>T (n.-385+7G>T)
 gnomAD v4
1g.17004700C=CA1156072409ATP13A2c.469G= (p.Val157=)
c.462+7G= (n.462+7G=)
c.196+7G=
c.439+7G=
c.395G=
c.181G= (p.Val61=)
c.-385+7G= (n.-385+7G=)
1g.17004700C>GCA338262939ATP13A2c.469G>C (p.Val157Leu)
c.462+7G>C (n.462+7G>C)
c.196+7G>C
c.439+7G>C
c.395G>C
c.181G>C (p.Val61Leu)
c.-385+7G>C (n.-385+7G>C)
1g.17004700C>TCA338262933ATP13A2c.469G>A (p.Val157Ile)
c.462+7G>A (n.462+7G>A)
c.196+7G>A
c.439+7G>A
c.395G>A
c.181G>A (p.Val61Ile)
c.-385+7G>A (n.-385+7G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.17004701A>CCA338262943ATP13A2c.468T>G (p.Ser156Arg)
c.462+6T>G (n.462+6T>G)
c.196+6T>G
c.439+6T>G
c.394T>G
c.180T>G (p.Ser60Arg)
c.-385+6T>G (n.-385+6T>G)
1g.17004701A>GCA416070880ATP13A2c.468T>C (p.Ser156=)
c.462+6T>C (n.462+6T>C)
c.196+6T>C
c.439+6T>C
c.394T>C
c.180T>C (p.Ser60=)
c.-385+6T>C (n.-385+6T>C)
 gnomAD v4
1g.17004701A>TCA338262944ATP13A2c.468T>A (p.Ser156Arg)
c.462+6T>A (n.462+6T>A)
c.196+6T>A
c.439+6T>A
c.394T>A
c.180T>A (p.Ser60Arg)
c.-385+6T>A (n.-385+6T>A)
1g.17004702C>ACA338262945ATP13A2c.467G>T (p.Ser156Ile)
c.462+5G>T (n.462+5G>T)
c.196+5G>T
c.439+5G>T
c.393G>T
c.179G>T (p.Ser60Ile)
c.-385+5G>T (n.-385+5G>T)
1g.17004702C=CA1156072412ATP13A2c.467G= (p.Ser156=)
c.462+5G= (n.462+5G=)
c.196+5G=
c.439+5G=
c.393G=
c.179G= (p.Ser60=)
c.-385+5G= (n.-385+5G=)
1g.17004702C>GCA637641ATP13A2c.467G>C (p.Ser156Thr)
c.462+5G>C (n.462+5G>C)
c.196+5G>C
c.439+5G>C
c.393G>C
c.179G>C (p.Ser60Thr)
c.-385+5G>C (n.-385+5G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.17004702C>TCA338262948ATP13A2c.467G>A (p.Ser156Asn)
c.462+5G>A (n.462+5G>A)
c.196+5G>A
c.439+5G>A
c.393G>A
c.179G>A (p.Ser60Asn)
c.-385+5G>A (n.-385+5G>A)
1g.17004703T>ACA338262952ATP13A2c.466A>T (p.Ser156Cys)
c.462+4A>T (n.462+4A>T)
c.196+4A>T
c.439+4A>T
c.392A>T
c.178A>T (p.Ser60Cys)
c.-385+4A>T (n.-385+4A>T)
1g.17004703T>CCA338262951ATP13A2c.466A>G (p.Ser156Gly)
c.462+4A>G (n.462+4A>G)
c.196+4A>G
c.439+4A>G
c.392A>G
c.178A>G (p.Ser60Gly)
c.-385+4A>G (n.-385+4A>G)
 gnomAD v4
1g.17004703T>GCA338262950ATP13A2c.466A>C (p.Ser156Arg)
c.462+4A>C (n.462+4A>C)
c.196+4A>C
c.439+4A>C
c.392A>C
c.178A>C (p.Ser60Arg)
c.-385+4A>C (n.-385+4A>C)
1g.17004704C>ACA416070895ATP13A2c.465G>T (p.Val155=)
c.462+3G>T (n.462+3G>T)
c.196+3G>T
c.439+3G>T
c.391G>T
c.177G>T (p.Val59=)
c.-385+3G>T (n.-385+3G>T)
1g.17004704C>GCA416070894ATP13A2c.465G>C (p.Val155=)
c.462+3G>C (n.462+3G>C)
c.196+3G>C
c.439+3G>C
c.391G>C
c.177G>C (p.Val59=)
c.-385+3G>C (n.-385+3G>C)
 COSMIC COSMIC
1g.17004704C>TCA416070893ATP13A2c.465G>A (p.Val155=)
c.462+3G>A (n.462+3G>A)
c.196+3G>A
c.439+3G>A
c.391G>A
c.177G>A (p.Val59=)
c.-385+3G>A (n.-385+3G>A)
 gnomAD v4
1g.17004705A=CA1156072414ATP13A2c.464T= (p.Val155=)
c.462+2T= (n.462+2T=)
c.196+2T=
c.439+2T=
c.390T=
c.176T= (p.Val59=)
c.-385+2T= (n.-385+2T=)
1g.17004705A>CCA338262953ATP13A2c.464T>G (p.Val155Gly)
c.462+2T>G (n.462+2T>G)
c.196+2T>G
c.439+2T>G
c.390T>G
c.176T>G (p.Val59Gly)
c.-385+2T>G (n.-385+2T>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.17004705A>GCA338262954ATP13A2c.464T>C (p.Val155Ala)
c.462+2T>C (n.462+2T>C)
c.196+2T>C
c.439+2T>C
c.390T>C
c.176T>C (p.Val59Ala)
c.-385+2T>C (n.-385+2T>C)
1g.17004705A>TCA338262957ATP13A2c.464T>A (p.Val155Glu)
c.462+2T>A (n.462+2T>A)
c.196+2T>A
c.439+2T>A
c.390T>A
c.176T>A (p.Val59Glu)
c.-385+2T>A (n.-385+2T>A)
1g.17004706C>ACA338262962ATP13A2c.463G>T (p.Val155Leu)
c.462+1G>T (n.462+1G>T)
c.196+1G>T
c.439+1G>T
c.389G>T
c.175G>T (p.Val59Leu)
c.-385+1G>T (n.-385+1G>T)
1g.17004706C>GCA338262963ATP13A2c.463G>C (p.Val155Leu)
c.462+1G>C (n.462+1G>C)
c.196+1G>C
c.439+1G>C
c.389G>C
c.175G>C (p.Val59Leu)
c.-385+1G>C (n.-385+1G>C)
1g.17004706C>TCA338262965ATP13A2c.463G>A (p.Val155Met)
c.462+1G>A (n.462+1G>A)
c.196+1G>A
c.439+1G>A
c.389G>A
c.175G>A (p.Val59Met)
c.-385+1G>A (n.-385+1G>A)
1g.17004707C>ACA416070918ATP13A2c.462G>T (p.Ala154=)
c.196G>T
c.439G>T
c.388G>T
c.174G>T (p.Ala58=)
c.-385G>T (n.-385G>T)
 dbSNP
1g.17004707C=CA1156072417ATP13A2c.462G= (p.Ala154=)
c.196G=
c.439G=
c.388G=
c.174G= (p.Ala58=)
c.-385G= (n.-385G=)
1g.17004707C>GCA416070921ATP13A2c.462G>C (p.Ala154=)
c.196G>C
c.439G>C
c.388G>C
c.174G>C (p.Ala58=)
c.-385G>C (n.-385G>C)
1g.17004707C>TCA416070923ATP13A2c.462G>A (p.Ala154=)
c.196G>A
c.439G>A
c.388G>A
c.174G>A (p.Ala58=)
c.-385G>A (n.-385G>A)
 dbSNP gnomAD v4
1g.17004708G>ACA637642ATP13A2c.461C>T (p.Ala154Val)
c.195C>T
c.438C>T
c.387C>T
c.173C>T (p.Ala58Val)
c.-386C>T (n.-386C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17004708G>CCA338262967ATP13A2c.461C>G (p.Ala154Gly)
c.195C>G
c.438C>G
c.387C>G
c.173C>G (p.Ala58Gly)
c.-386C>G (n.-386C>G)
1g.17004708G=CA1144107836ATP13A2c.461C= (p.Ala154=)
c.195C=
c.438C=
c.387C=
c.173C= (p.Ala58=)
c.-386C= (n.-386C=)
1g.17004708G>TCA338262966ATP13A2c.461C>A (p.Ala154Glu)
c.195C>A
c.438C>A
c.387C>A
c.173C>A (p.Ala58Glu)
c.-386C>A (n.-386C>A)
1g.17004709C>ACA338262968ATP13A2c.460G>T (p.Ala154Ser)
c.194G>T
c.437G>T
c.386G>T
c.172G>T (p.Ala58Ser)
c.-387G>T (n.-387G>T)
1g.17004709C>GCA338262972ATP13A2c.460G>C (p.Ala154Pro)
c.194G>C
c.437G>C
c.386G>C
c.172G>C (p.Ala58Pro)
c.-387G>C (n.-387G>C)
1g.17004709C>TCA338262973ATP13A2c.460G>A (p.Ala154Thr)
c.194G>A
c.437G>A
c.386G>A
c.172G>A (p.Ala58Thr)
c.-387G>A (n.-387G>A)
1g.17004710C>ACA338262976ATP13A2c.459G>T (p.Glu153Asp)
c.193G>T
c.436G>T
c.385G>T
c.171G>T (p.Glu57Asp)
c.-388G>T (n.-388G>T)
1g.17004710C>GCA338262977ATP13A2c.459G>C (p.Glu153Asp)
c.193G>C
c.436G>C
c.385G>C
c.171G>C (p.Glu57Asp)
c.-388G>C (n.-388G>C)
1g.17004710C>TCA416070965ATP13A2c.459G>A (p.Glu153=)
c.193G>A
c.436G>A
c.385G>A
c.171G>A (p.Glu57=)
c.-388G>A (n.-388G>A)
1g.17004711T>ACA338262980ATP13A2c.458A>T (p.Glu153Val)
c.192A>T
c.435A>T
c.384A>T
c.170A>T (p.Glu57Val)
c.-389A>T (n.-389A>T)
1g.17004711T>CCA338262982ATP13A2c.458A>G (p.Glu153Gly)
c.192A>G
c.435A>G
c.384A>G
c.170A>G (p.Glu57Gly)
c.-389A>G (n.-389A>G)
1g.17004711T>GCA338262984ATP13A2c.458A>C (p.Glu153Ala)
c.192A>C
c.435A>C
c.384A>C
c.170A>C (p.Glu57Ala)
c.-389A>C (n.-389A>C)
 gnomAD v4
1g.17004712C>ACA338262987ATP13A2c.457G>T (p.Glu153Ter)
c.191G>T
c.434G>T
c.383G>T
c.169G>T (p.Glu57Ter)
c.-390G>T (n.-390G>T)
1g.17004712C>GCA338262990ATP13A2c.457G>C (p.Glu153Gln)
c.191G>C
c.434G>C
c.383G>C
c.169G>C (p.Glu57Gln)
c.-390G>C (n.-390G>C)
1g.17004712C>TCA338262994ATP13A2c.457G>A (p.Glu153Lys)
c.191G>A
c.434G>A
c.383G>A
c.169G>A (p.Glu57Lys)
c.-390G>A (n.-390G>A)
 COSMIC COSMIC
1g.17004713C>ACA338263001ATP13A2c.456G>T (p.Glu152Asp)
c.190G>T
c.433G>T
c.382G>T
c.168G>T (p.Glu56Asp)
c.-391G>T (n.-391G>T)
1g.17004713C>GCA338263002ATP13A2c.456G>C (p.Glu152Asp)
c.190G>C
c.433G>C
c.382G>C
c.168G>C (p.Glu56Asp)
c.-391G>C (n.-391G>C)
1g.17004713C>TCA416071002ATP13A2c.456G>A (p.Glu152=)
c.190G>A
c.433G>A
c.382G>A
c.168G>A (p.Glu56=)
c.-391G>A (n.-391G>A)
1g.17004714T>ACA338263005ATP13A2c.455A>T (p.Glu152Val)
c.189A>T
c.432A>T
c.381A>T
c.167A>T (p.Glu56Val)
c.-392A>T (n.-392A>T)
1g.17004714T>CCA637643ATP13A2c.455A>G (p.Glu152Gly)
c.189A>G
c.432A>G
c.381A>G
c.167A>G (p.Glu56Gly)
c.-392A>G (n.-392A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.17004714T>GCA338263007ATP13A2c.455A>C (p.Glu152Ala)
c.189A>C
c.432A>C
c.381A>C
c.167A>C (p.Glu56Ala)
c.-392A>C (n.-392A>C)
1g.17004714T=CA1148727383ATP13A2c.455A= (p.Glu152=)
c.189A=
c.432A=
c.381A=
c.167A= (p.Glu56=)
c.-392A= (n.-392A=)
1g.17004715C>ACA338263018ATP13A2c.454G>T (p.Glu152Ter)
c.188G>T
c.431G>T
c.380G>T
c.166G>T (p.Glu56Ter)
c.-393G>T (n.-393G>T)
1g.17004715C=CA1156072426ATP13A2c.454G= (p.Glu152=)
c.188G=
c.431G=
c.380G=
c.166G= (p.Glu56=)
c.-393G= (n.-393G=)
1g.17004715C>GCA338263029ATP13A2c.454G>C (p.Glu152Gln)
c.188G>C
c.431G>C
c.380G>C
c.166G>C (p.Glu56Gln)
c.-393G>C (n.-393G>C)
1g.17004715C>TCA338263020ATP13A2c.454G>A (p.Glu152Lys)
c.188G>A
c.431G>A
c.380G>A
c.166G>A (p.Glu56Lys)
c.-393G>A (n.-393G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.17004716G>ACA637644ATP13A2c.453C>T (p.Ser151=)
c.187C>T
c.430C>T
c.379C>T
c.165C>T (p.Ser55=)
c.-394C>T (n.-394C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17004716G>CCA338263034ATP13A2c.453C>G (p.Ser151Arg)
c.187C>G
c.430C>G
c.379C>G
c.165C>G (p.Ser55Arg)
c.-394C>G (n.-394C>G)
 gnomAD v4
1g.17004716G=CA1140628851ATP13A2c.453C= (p.Ser151=)
c.187C=
c.430C=
c.379C=
c.165C= (p.Ser55=)
c.-394C= (n.-394C=)
1g.17004716G>TCA338263045ATP13A2c.453C>A (p.Ser151Arg)
c.187C>A
c.430C>A
c.379C>A
c.165C>A (p.Ser55Arg)
c.-394C>A (n.-394C>A)
1g.17004717C>ACA338263047ATP13A2c.452G>T (p.Ser151Ile)
c.186G>T
c.429G>T
c.378G>T
c.164G>T (p.Ser55Ile)
c.-395G>T (n.-395G>T)
1g.17004717C>GCA338263055ATP13A2c.452G>C (p.Ser151Thr)
c.186G>C
c.429G>C
c.378G>C
c.164G>C (p.Ser55Thr)
c.-395G>C (n.-395G>C)
1g.17004717C>TCA338263056ATP13A2c.452G>A (p.Ser151Asn)
c.186G>A
c.429G>A
c.378G>A
c.164G>A (p.Ser55Asn)
c.-395G>A (n.-395G>A)
 gnomAD v4
1g.17004718T>ACA338263059ATP13A2c.451A>T (p.Ser151Cys)
c.185A>T
c.428A>T
c.377A>T
c.163A>T (p.Ser55Cys)
c.-396A>T (n.-396A>T)
1g.17004718T>CCA338263061ATP13A2c.451A>G (p.Ser151Gly)
c.185A>G
c.428A>G
c.377A>G
c.163A>G (p.Ser55Gly)
c.-396A>G (n.-396A>G)
1g.17004718T>GCA338263063ATP13A2c.451A>C (p.Ser151Arg)
c.185A>C
c.428A>C
c.377A>C
c.163A>C (p.Ser55Arg)
c.-396A>C (n.-396A>C)
1g.17004719C>ACA338263066ATP13A2c.450G>T (p.Lys150Asn)
c.184G>T
c.427G>T
c.376G>T
c.162G>T (p.Lys54Asn)
c.-397G>T (n.-397G>T)
1g.17004719C>GCA338263067ATP13A2c.450G>C (p.Lys150Asn)
c.184G>C
c.427G>C
c.376G>C
c.162G>C (p.Lys54Asn)
c.-397G>C (n.-397G>C)
1g.17004719C>TCA416071023ATP13A2c.450G>A (p.Lys150=)
c.184G>A
c.427G>A
c.376G>A
c.162G>A (p.Lys54=)
c.-397G>A (n.-397G>A)
1g.17004720T>ACA338263070ATP13A2c.449A>T (p.Lys150Met)
c.183A>T
c.426A>T
c.375A>T
c.161A>T (p.Lys54Met)
c.-398A>T (n.-398A>T)
1g.17004720T>CCA338263069ATP13A2c.449A>G (p.Lys150Arg)
c.183A>G
c.426A>G
c.375A>G
c.161A>G (p.Lys54Arg)
c.-398A>G (n.-398A>G)
1g.17004720T>GCA338263068ATP13A2c.449A>C (p.Lys150Thr)
c.183A>C
c.426A>C
c.375A>C
c.161A>C (p.Lys54Thr)
c.-398A>C (n.-398A>C)
1g.17004721T>ACA338263071ATP13A2c.448A>T (p.Lys150Ter)
c.182A>T
c.425A>T
c.374A>T
c.160A>T (p.Lys54Ter)
c.-399A>T (n.-399A>T)
1g.17004721T>CCA338263075ATP13A2c.448A>G (p.Lys150Glu)
c.182A>G
c.425A>G
c.374A>G
c.160A>G (p.Lys54Glu)
c.-399A>G (n.-399A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.17004721T>GCA338263099ATP13A2c.448A>C (p.Lys150Gln)
c.182A>C
c.425A>C
c.374A>C
c.160A>C (p.Lys54Gln)
c.-399A>C (n.-399A>C)
1g.17004721T=CA1156072432ATP13A2c.448A= (p.Lys150=)
c.182A=
c.425A=
c.374A=
c.160A= (p.Lys54=)
c.-399A= (n.-399A=)
1g.17004722delCA2643675161ATP13A2c.447del (p.His149GlnfsTer7)
c.447del (p.His149GlnfsTer?)
c.181del
c.424del
c.373del
c.159del (p.His53GlnfsTer7)
c.-400del (n.-400del)
 gnomAD v4
1g.17004722G>ACA416071037ATP13A2c.447C>T (p.His149=)
c.181C>T
c.424C>T
c.373C>T
c.159C>T (p.His53=)
c.-400C>T (n.-400C>T)
1g.17004722G>CCA338263103ATP13A2c.447C>G (p.His149Gln)
c.181C>G
c.424C>G
c.373C>G
c.159C>G (p.His53Gln)
c.-400C>G (n.-400C>G)
1g.17004722G>TCA338263114ATP13A2c.447C>A (p.His149Gln)
c.181C>A
c.424C>A
c.373C>A
c.159C>A (p.His53Gln)
c.-400C>A (n.-400C>A)
 gnomAD v4
1g.17004723T>ACA338263117ATP13A2c.446A>T (p.His149Leu)
c.180A>T
c.423A>T
c.372A>T
c.158A>T (p.His53Leu)
c.-401A>T (n.-401A>T)
1g.17004723T>CCA637645ATP13A2c.446A>G (p.His149Arg)
c.180A>G
c.423A>G
c.372A>G
c.158A>G (p.His53Arg)
c.-401A>G (n.-401A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.17004723T>GCA338263120ATP13A2c.446A>C (p.His149Pro)
c.180A>C
c.423A>C
c.372A>C
c.158A>C (p.His53Pro)
c.-401A>C (n.-401A>C)
1g.17004723T=CA1156072435ATP13A2c.446A= (p.His149=)
c.180A=
c.423A=
c.372A=
c.158A= (p.His53=)
c.-401A= (n.-401A=)
1g.17004724G>ACA338263122ATP13A2c.445C>T (p.His149Tyr)
c.179C>T
c.422C>T
c.371C>T
c.157C>T (p.His53Tyr)
c.-402C>T (n.-402C>T)
 COSMIC COSMIC
1g.17004724G>CCA338263123ATP13A2c.445C>G (p.His149Asp)
c.179C>G
c.422C>G
c.371C>G
c.157C>G (p.His53Asp)
c.-402C>G (n.-402C>G)
1g.17004724G>TCA338263125ATP13A2c.445C>A (p.His149Asn)
c.179C>A
c.422C>A
c.371C>A
c.157C>A (p.His53Asn)
c.-402C>A (n.-402C>A)
1g.17004725G>ACA416071056ATP13A2c.444C>T (p.Leu148=)
c.178C>T
c.421C>T
c.370C>T
c.156C>T (p.Leu52=)
c.-403C>T (n.-403C>T)
1g.17004725G>CCA416071057ATP13A2c.444C>G (p.Leu148=)
c.178C>G
c.421C>G
c.370C>G
c.156C>G (p.Leu52=)
c.-403C>G (n.-403C>G)
 gnomAD v4
1g.17004725G>TCA416071058ATP13A2c.444C>A (p.Leu148=)
c.178C>A
c.421C>A
c.370C>A
c.156C>A (p.Leu52=)
c.-403C>A (n.-403C>A)
1g.17004726A>CCA338263130ATP13A2c.443T>G (p.Leu148Arg)
c.177T>G
c.420T>G
c.369T>G
c.155T>G (p.Leu52Arg)
c.-404T>G (n.-404T>G)
1g.17004726A>GCA338263129ATP13A2c.443T>C (p.Leu148Pro)
c.177T>C
c.420T>C
c.369T>C
c.155T>C (p.Leu52Pro)
c.-404T>C (n.-404T>C)
1g.17004726A>TCA338263127ATP13A2c.443T>A (p.Leu148His)
c.177T>A
c.420T>A
c.369T>A
c.155T>A (p.Leu52His)
c.-404T>A (n.-404T>A)
1g.17004727G>ACA338263133ATP13A2c.442C>T (p.Leu148Phe)
c.176C>T
c.419C>T
c.368C>T
c.154C>T (p.Leu52Phe)
c.-405C>T (n.-405C>T)
1g.17004727G>CCA338263134ATP13A2c.442C>G (p.Leu148Val)
c.176C>G
c.419C>G
c.368C>G
c.154C>G (p.Leu52Val)
c.-405C>G (n.-405C>G)
1g.17004727G>TCA338263135ATP13A2c.442C>A (p.Leu148Ile)
c.176C>A
c.419C>A
c.368C>A
c.154C>A (p.Leu52Ile)
c.-405C>A (n.-405C>A)
1g.17004728C>ACA338263136ATP13A2c.441G>T (p.Gln147His)
c.175G>T
c.418G>T
c.367G>T
c.153G>T (p.Gln51His)
c.-406G>T (n.-406G>T)
1g.17004728C=CA1156072458ATP13A2c.441G= (p.Gln147=)
c.175G=
c.418G=
c.367G=
c.153G= (p.Gln51=)
c.-406G= (n.-406G=)
1g.17004728C>GCA338263137ATP13A2c.441G>C (p.Gln147His)
c.175G>C
c.418G>C
c.367G>C
c.153G>C (p.Gln51His)
c.-406G>C (n.-406G>C)
1g.17004728C>TCA18646243ATP13A2c.441G>A (p.Gln147=)
c.175G>A
c.418G>A
c.367G>A
c.153G>A (p.Gln51=)
c.-406G>A (n.-406G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.17004729T>ACA338263139ATP13A2c.440A>T (p.Gln147Leu)
c.174A>T
c.417A>T
c.366A>T
c.152A>T (p.Gln51Leu)
c.-407A>T (n.-407A>T)
1g.17004729T>CCA338263141ATP13A2c.440A>G (p.Gln147Arg)
c.174A>G
c.417A>G
c.366A>G
c.152A>G (p.Gln51Arg)
c.-407A>G (n.-407A>G)
1g.17004729T>GCA338263143ATP13A2c.440A>C (p.Gln147Pro)
c.174A>C
c.417A>C
c.366A>C
c.152A>C (p.Gln51Pro)
c.-407A>C (n.-407A>C)
1g.17004730G>ACA338263148ATP13A2c.439C>T (p.Gln147Ter)
c.173C>T
c.416C>T
c.365C>T
c.151C>T (p.Gln51Ter)
c.-408C>T (n.-408C>T)
1g.17004730G>CCA338263151ATP13A2c.439C>G (p.Gln147Glu)
c.173C>G
c.416C>G
c.365C>G
c.151C>G (p.Gln51Glu)
c.-408C>G (n.-408C>G)
1g.17004730G>TCA338263153ATP13A2c.439C>A (p.Gln147Lys)
c.173C>A
c.416C>A
c.365C>A
c.151C>A (p.Gln51Lys)
c.-408C>A (n.-408C>A)
1g.17004731G>ACA416071101ATP13A2c.438C>T (p.Ala146=)
c.172C>T
c.415C>T
c.364C>T
c.150C>T (p.Ala50=)
c.-409C>T (n.-409C>T)
1g.17004731G>CCA637646ATP13A2c.438C>G (p.Ala146=)
c.172C>G
c.415C>G
c.364C>G
c.150C>G (p.Ala50=)
c.-409C>G (n.-409C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.17004731G=CA1149120471ATP13A2c.438C= (p.Ala146=)
c.172C=
c.415C=
c.364C=
c.150C= (p.Ala50=)
c.-409C= (n.-409C=)
1g.17004731G>TCA416071094ATP13A2c.438C>A (p.Ala146=)
c.172C>A
c.415C>A
c.364C>A
c.150C>A (p.Ala50=)
c.-409C>A (n.-409C>A)
1g.17004732G>ACA338263156ATP13A2c.437C>T (p.Ala146Val)
c.171C>T
c.414C>T
c.363C>T
c.149C>T (p.Ala50Val)
c.-410C>T (n.-410C>T)
1g.17004732G>CCA338263155ATP13A2c.437C>G (p.Ala146Gly)
c.171C>G
c.414C>G
c.363C>G
c.149C>G (p.Ala50Gly)
c.-410C>G (n.-410C>G)
1g.17004732G>TCA338263154ATP13A2c.437C>A (p.Ala146Asp)
c.171C>A
c.414C>A
c.363C>A
c.149C>A (p.Ala50Asp)
c.-410C>A (n.-410C>A)
1g.17004733C>ACA338263157ATP13A2c.436G>T (p.Ala146Ser)
c.170G>T
c.413G>T
c.362G>T
c.148G>T (p.Ala50Ser)
c.-411G>T (n.-411G>T)
1g.17004733C>GCA338263160ATP13A2c.436G>C (p.Ala146Pro)
c.170G>C
c.413G>C
c.362G>C
c.148G>C (p.Ala50Pro)
c.-411G>C (n.-411G>C)
1g.17004733C>TCA338263161ATP13A2c.436G>A (p.Ala146Thr)
c.170G>A
c.413G>A
c.362G>A
c.148G>A (p.Ala50Thr)
c.-411G>A (n.-411G>A)
1g.17004734C>ACA416071114ATP13A2c.435G>T (p.Thr145=)
c.169G>T
c.412G>T
c.361G>T
c.147G>T (p.Thr49=)
c.-412G>T (n.-412G>T)
1g.17004734C=CA1143463881ATP13A2c.435G= (p.Thr145=)
c.169G=
c.412G=
c.361G=
c.147G= (p.Thr49=)
c.-412G= (n.-412G=)
1g.17004734C>GCA416071117ATP13A2c.435G>C (p.Thr145=)
c.169G>C
c.412G>C
c.361G>C
c.147G>C (p.Thr49=)
c.-412G>C (n.-412G>C)
1g.17004734C>TCA637647ATP13A2c.435G>A (p.Thr145=)
c.169G>A
c.412G>A
c.361G>A
c.147G>A (p.Thr49=)
c.-412G>A (n.-412G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17004735G>ACA637648ATP13A2c.434C>T (p.Thr145Met)
c.168C>T
c.411C>T
c.360C>T
c.146C>T (p.Thr49Met)
c.-413C>T (n.-413C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.17004735G>CCA338263168ATP13A2c.434C>G (p.Thr145Arg)
c.168C>G
c.411C>G
c.360C>G
c.146C>G (p.Thr49Arg)
c.-413C>G (n.-413C>G)
1g.17004735G=CA1156072466ATP13A2c.434C= (p.Thr145=)
c.168C=
c.411C=
c.360C=
c.146C= (p.Thr49=)
c.-413C= (n.-413C=)
1g.17004735G>TCA338263173ATP13A2c.434C>A (p.Thr145Lys)
c.168C>A
c.411C>A
c.360C>A
c.146C>A (p.Thr49Lys)
c.-413C>A (n.-413C>A)
1g.17004736T>ACA338263174ATP13A2c.433A>T (p.Thr145Ser)
c.167A>T
c.410A>T
c.359A>T
c.145A>T (p.Thr49Ser)
c.-414A>T (n.-414A>T)
1g.17004736T>CCA338263175ATP13A2c.433A>G (p.Thr145Ala)
c.167A>G
c.410A>G
c.359A>G
c.145A>G (p.Thr49Ala)
c.-414A>G (n.-414A>G)
1g.17004736T>GCA338263176ATP13A2c.433A>C (p.Thr145Pro)
c.167A>C
c.410A>C
c.359A>C
c.145A>C (p.Thr49Pro)
c.-414A>C (n.-414A>C)
1g.17004737A>CCA338263177ATP13A2c.432T>G (p.Asp144Glu)
c.166T>G
c.409T>G
c.358T>G
c.144T>G (p.Asp48Glu)
c.-415T>G (n.-415T>G)
1g.17004737A>GCA416071153ATP13A2c.432T>C (p.Asp144=)
c.166T>C
c.409T>C
c.358T>C
c.144T>C (p.Asp48=)
c.-415T>C (n.-415T>C)
1g.17004737A>TCA338263178ATP13A2c.432T>A (p.Asp144Glu)
c.166T>A
c.409T>A
c.358T>A
c.144T>A (p.Asp48Glu)
c.-415T>A (n.-415T>A)
1g.17004738T>ACA637649ATP13A2c.431A>T (p.Asp144Val)
c.165A>T
c.408A>T
c.357A>T
c.143A>T (p.Asp48Val)
c.-416A>T (n.-416A>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17004738T>CCA338263181ATP13A2c.431A>G (p.Asp144Gly)
c.165A>G
c.408A>G
c.357A>G
c.143A>G (p.Asp48Gly)
c.-416A>G (n.-416A>G)
1g.17004738T>GCA338263179ATP13A2c.431A>C (p.Asp144Ala)
c.165A>C
c.408A>C
c.357A>C
c.143A>C (p.Asp48Ala)
c.-416A>C (n.-416A>C)
1g.17004738T=CA1142028250ATP13A2c.431A= (p.Asp144=)
c.165A=
c.408A=
c.357A=
c.143A= (p.Asp48=)
c.-416A= (n.-416A=)
1g.17004739C>ACA338263185ATP13A2c.430G>T (p.Asp144Tyr)
c.164G>T
c.407G>T
c.356G>T
c.142G>T (p.Asp48Tyr)
c.-417G>T (n.-417G>T)
1g.17004739C>GCA338263190ATP13A2c.430G>C (p.Asp144His)
c.164G>C
c.407G>C
c.356G>C
c.142G>C (p.Asp48His)
c.-417G>C (n.-417G>C)
1g.17004739C>TCA338263187ATP13A2c.430G>A (p.Asp144Asn)
c.164G>A
c.407G>A
c.356G>A
c.142G>A (p.Asp48Asn)
c.-417G>A (n.-417G>A)
1g.17004740C>ACA338263192ATP13A2c.429G>T (p.Lys143Asn)
c.163G>T
c.406G>T
c.355G>T
c.141G>T (p.Lys47Asn)
c.-418G>T (n.-418G>T)
 COSMIC COSMIC
1g.17004740C=CA1156072477ATP13A2c.429G= (p.Lys143=)
c.163G=
c.406G=
c.355G=
c.141G= (p.Lys47=)
c.-418G= (n.-418G=)
1g.17004740C>GCA338263194ATP13A2c.429G>C (p.Lys143Asn)
c.163G>C
c.406G>C
c.355G>C
c.141G>C (p.Lys47Asn)
c.-418G>C (n.-418G>C)
1g.17004740C>TCA416071167ATP13A2c.429G>A (p.Lys143=)
c.163G>A
c.406G>A
c.355G>A
c.141G>A (p.Lys47=)
c.-418G>A (n.-418G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.17004741T>ACA338263197ATP13A2c.428A>T (p.Lys143Met)
c.162A>T
c.405A>T
c.354A>T
c.140A>T (p.Lys47Met)
c.-419A>T (n.-419A>T)
1g.17004741T>CCA338263205ATP13A2c.428A>G (p.Lys143Arg)
c.162A>G
c.405A>G
c.354A>G
c.140A>G (p.Lys47Arg)
c.-419A>G (n.-419A>G)
1g.17004741T>GCA338263207ATP13A2c.428A>C (p.Lys143Thr)
c.162A>C
c.405A>C
c.354A>C
c.140A>C (p.Lys47Thr)
c.-419A>C (n.-419A>C)
1g.17004742T>ACA338263210ATP13A2c.427A>T (p.Lys143Ter)
c.161A>T
c.404A>T
c.353A>T
c.139A>T (p.Lys47Ter)
c.-420A>T (n.-420A>T)
1g.17004742T>CCA637650ATP13A2c.427A>G (p.Lys143Glu)
c.161A>G
c.404A>G
c.353A>G
c.139A>G (p.Lys47Glu)
c.-420A>G (n.-420A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.17004742T>GCA338263218ATP13A2c.427A>C (p.Lys143Gln)
c.161A>C
c.404A>C
c.353A>C
c.139A>C (p.Lys47Gln)
c.-420A>C (n.-420A>C)
1g.17004742T=CA1156072479ATP13A2c.427A= (p.Lys143=)
c.161A=
c.404A=
c.353A=
c.139A= (p.Lys47=)
c.-420A= (n.-420A=)
1g.17004743C>ACA338263220ATP13A2c.426G>T (p.Trp142Cys)
c.160G>T
c.403G>T
c.352G>T
c.138G>T (p.Trp46Cys)
c.-421G>T (n.-421G>T)
1g.17004743C>GCA338263222ATP13A2c.426G>C (p.Trp142Cys)
c.160G>C
c.403G>C
c.352G>C
c.138G>C (p.Trp46Cys)
c.-421G>C (n.-421G>C)
1g.17004743C>TCA338263225ATP13A2c.426G>A (p.Trp142Ter)
c.160G>A
c.403G>A
c.352G>A
c.138G>A (p.Trp46Ter)
c.-421G>A (n.-421G>A)
1g.17004744C>ACA338263236ATP13A2c.425G>T (p.Trp142Leu)
c.159G>T
c.402G>T
c.351G>T
c.137G>T (p.Trp46Leu)
c.-422G>T (n.-422G>T)
1g.17004744C>GCA338263234ATP13A2c.425G>C (p.Trp142Ser)
c.159G>C
c.402G>C
c.351G>C
c.137G>C (p.Trp46Ser)
c.-422G>C (n.-422G>C)
1g.17004744C>TCA338263231ATP13A2c.425G>A (p.Trp142Ter)
c.159G>A
c.402G>A
c.351G>A
c.137G>A (p.Trp46Ter)
c.-422G>A (n.-422G>A)
 gnomAD v4
1g.17004745A>CCA338263242ATP13A2c.424T>G (p.Trp142Gly)
c.158T>G
c.401T>G
c.350T>G
c.136T>G (p.Trp46Gly)
c.-423T>G (n.-423T>G)
1g.17004745A>GCA338263245ATP13A2c.424T>C (p.Trp142Arg)
c.158T>C
c.401T>C
c.350T>C
c.136T>C (p.Trp46Arg)
c.-423T>C (n.-423T>C)
1g.17004745A>TCA338263247ATP13A2c.424T>A (p.Trp142Arg)
c.158T>A
c.401T>A
c.350T>A
c.136T>A (p.Trp46Arg)
c.-423T>A (n.-423T>A)
1g.17004746G>ACA416071193ATP13A2c.423C>T (p.Ala141=)
c.157C>T
c.400C>T
c.349C>T
c.135C>T (p.Ala45=)
c.-424C>T (n.-424C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.17004746G>CCA416071194ATP13A2c.423C>G (p.Ala141=)
c.157C>G
c.400C>G
c.349C>G
c.135C>G (p.Ala45=)
c.-424C>G (n.-424C>G)
1g.17004746G=CA1156072482ATP13A2c.423C= (p.Ala141=)
c.157C=
c.400C=
c.349C=
c.135C= (p.Ala45=)
c.-424C= (n.-424C=)
1g.17004746G>TCA416071192ATP13A2c.423C>A (p.Ala141=)
c.157C>A
c.400C>A
c.349C>A
c.135C>A (p.Ala45=)
c.-424C>A (n.-424C>A)
1g.17004747G>ACA338263249ATP13A2c.422C>T (p.Ala141Val)
c.156C>T
c.399C>T
c.348C>T
c.134C>T (p.Ala45Val)
c.-425C>T (n.-425C>T)
 gnomAD v4
1g.17004747G>CCA338263252ATP13A2c.422C>G (p.Ala141Gly)
c.156C>G
c.399C>G
c.348C>G
c.134C>G (p.Ala45Gly)
c.-425C>G (n.-425C>G)
1g.17004747G>TCA338263253ATP13A2c.422C>A (p.Ala141Asp)
c.156C>A
c.399C>A
c.348C>A
c.134C>A (p.Ala45Asp)
c.-425C>A (n.-425C>A)
1g.17004748C>ACA338263255ATP13A2c.421G>T (p.Ala141Ser)
c.155G>T
c.398G>T
c.347G>T
c.133G>T (p.Ala45Ser)
c.-426G>T (n.-426G>T)
 dbSNP gnomAD v2 gnomAD v4
1g.17004748C=CA1156072488ATP13A2c.421G= (p.Ala141=)
c.155G=
c.398G=
c.347G=
c.133G= (p.Ala45=)
c.-426G= (n.-426G=)
1g.17004748C>GCA338263257ATP13A2c.421G>C (p.Ala141Pro)
c.155G>C
c.398G>C
c.347G>C
c.133G>C (p.Ala45Pro)
c.-426G>C (n.-426G>C)
1g.17004748C>TCA338263259ATP13A2c.421G>A (p.Ala141Thr)
c.155G>A
c.398G>A
c.347G>A
c.133G>A (p.Ala45Thr)
c.-426G>A (n.-426G>A)
 gnomAD v4
1g.17004749A=CA1156072490ATP13A2c.420T= (p.Gly140=)
c.154T=
c.397T=
c.346T=
c.132T= (p.Gly44=)
c.-427T= (n.-427T=)
1g.17004749A>CCA416071205ATP13A2c.420T>G (p.Gly140=)
c.154T>G
c.397T>G
c.346T>G
c.132T>G (p.Gly44=)
c.-427T>G (n.-427T>G)
 dbSNP
1g.17004749A>GCA416071209ATP13A2c.420T>C (p.Gly140=)
c.154T>C
c.397T>C
c.346T>C
c.132T>C (p.Gly44=)
c.-427T>C (n.-427T>C)
1g.17004749A>TCA416071213ATP13A2c.420T>A (p.Gly140=)
c.154T>A
c.397T>A
c.346T>A
c.132T>A (p.Gly44=)
c.-427T>A (n.-427T>A)
 gnomAD v4
1g.17004750C>ACA338263261ATP13A2c.419G>T (p.Gly140Val)
c.153G>T
c.396G>T
c.345G>T
c.131G>T (p.Gly44Val)
c.-428G>T (n.-428G>T)
1g.17004750C=CA1156072495ATP13A2c.419G= (p.Gly140=)
c.153G=
c.396G=
c.345G=
c.131G= (p.Gly44=)
c.-428G= (n.-428G=)
1g.17004750C>GCA338263262ATP13A2c.419G>C (p.Gly140Ala)
c.153G>C
c.396G>C
c.345G>C
c.131G>C (p.Gly44Ala)
c.-428G>C (n.-428G>C)
1g.17004750C>TCA338263264ATP13A2c.419G>A (p.Gly140Asp)
c.153G>A
c.396G>A
c.345G>A
c.131G>A (p.Gly44Asp)
c.-428G>A (n.-428G>A)
 dbSNP
1g.17004751C>ACA338263271ATP13A2c.418G>T (p.Gly140Cys)
c.152G>T
c.395G>T
c.344G>T
c.130G>T (p.Gly44Cys)
c.-429G>T (n.-429G>T)
1g.17004751C=CA1156072505ATP13A2c.418G= (p.Gly140=)
c.152G=
c.395G=
c.344G=
c.130G= (p.Gly44=)
c.-429G= (n.-429G=)
1g.17004751C>GCA338263268ATP13A2c.418G>C (p.Gly140Arg)
c.152G>C
c.395G>C
c.344G>C
c.130G>C (p.Gly44Arg)
c.-429G>C (n.-429G>C)
1g.17004751C>TCA338263266ATP13A2c.418G>A (p.Gly140Ser)
c.152G>A
c.395G>A
c.344G>A
c.130G>A (p.Gly44Ser)
c.-429G>A (n.-429G>A)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.17004757_17004795dupCA521449950ATP13A2c.380_418dup (p.Glu139_Gly140insAspGlyArgSerGlnAlaAlaValGlyAlaValProGlu)
c.114_152dup
c.357_395dup
c.306_344dup
c.92_130dup (p.Glu43_Gly44insAspGlyArgSerGlnAlaAlaValGlyAlaValProGlu)
c.-467_-429dup (n.-467_-429dup)
 dbSNP gnomAD v2
1g.17004752C>ACA338263274ATP13A2c.417G>T (p.Glu139Asp)
c.151G>T
c.394G>T
c.343G>T
c.129G>T (p.Glu43Asp)
c.-430G>T (n.-430G>T)
1g.17004752C=CA1156072508ATP13A2c.417G= (p.Glu139=)
c.151G=
c.394G=
c.343G=
c.129G= (p.Glu43=)
c.-430G= (n.-430G=)
1g.17004752C>GCA338263277ATP13A2c.417G>C (p.Glu139Asp)
c.151G>C
c.394G>C
c.343G>C
c.129G>C (p.Glu43Asp)
c.-430G>C (n.-430G>C)
 dbSNP
1g.17004752C>TCA416071222ATP13A2c.417G>A (p.Glu139=)
c.151G>A
c.394G>A
c.343G>A
c.129G>A (p.Glu43=)
c.-430G>A (n.-430G>A)
1g.17004754_17004755dupCA2643675231ATP13A2c.416_417dup (p.Gly140ArgfsTer17)
c.416_417dup (p.Gly140ArgfsTer?)
c.150_151dup
c.393_394dup
c.342_343dup
c.128_129dup (p.Gly44ArgfsTer17)
c.-431_-430dup (n.-431_-430dup)
 gnomAD v4
1g.17004753T>ACA338263279ATP13A2c.416A>T (p.Glu139Val)
c.150A>T
c.393A>T
c.342A>T
c.128A>T (p.Glu43Val)
c.-431A>T (n.-431A>T)
1g.17004753T>CCA338263282ATP13A2c.416A>G (p.Glu139Gly)
c.150A>G
c.393A>G
c.342A>G
c.128A>G (p.Glu43Gly)
c.-431A>G (n.-431A>G)
1g.17004753T>GCA338263284ATP13A2c.416A>C (p.Glu139Ala)
c.150A>C
c.393A>C
c.342A>C
c.128A>C (p.Glu43Ala)
c.-431A>C (n.-431A>C)
1g.17004754C>ACA338263288ATP13A2c.415G>T (p.Glu139Ter)
c.149G>T
c.392G>T
c.341G>T
c.127G>T (p.Glu43Ter)
c.-432G>T (n.-432G>T)
1g.17004754C>GCA338263287ATP13A2c.415G>C (p.Glu139Gln)
c.149G>C
c.392G>C
c.341G>C
c.127G>C (p.Glu43Gln)
c.-432G>C (n.-432G>C)
 COSMIC COSMIC
1g.17004754C>TCA338263285ATP13A2c.415G>A (p.Glu139Lys)
c.149G>A
c.392G>A
c.341G>A
c.127G>A (p.Glu43Lys)
c.-432G>A (n.-432G>A)
1g.17004755T>ACA416071240ATP13A2c.414A>T (p.Pro138=)
c.148A>T
c.391A>T
c.340A>T
c.126A>T (p.Pro42=)
c.-433A>T (n.-433A>T)
1g.17004755T>CCA416071243ATP13A2c.414A>G (p.Pro138=)
c.148A>G
c.391A>G
c.340A>G
c.126A>G (p.Pro42=)
c.-433A>G (n.-433A>G)
 gnomAD v4
1g.17004755T>GCA416071246ATP13A2c.414A>C (p.Pro138=)
c.148A>C
c.391A>C
c.340A>C
c.126A>C (p.Pro42=)
c.-433A>C (n.-433A>C)
1g.17004756G>ACA338263290ATP13A2c.413C>T (p.Pro138Leu)
c.147C>T
c.390C>T
c.339C>T
c.125C>T (p.Pro42Leu)
c.-434C>T (n.-434C>T)
 gnomAD v4
1g.17004756G>CCA338263292ATP13A2c.413C>G (p.Pro138Arg)
c.147C>G
c.390C>G
c.339C>G
c.125C>G (p.Pro42Arg)
c.-434C>G (n.-434C>G)
1g.17004756G>TCA338263293ATP13A2c.413C>A (p.Pro138Gln)
c.147C>A
c.390C>A
c.339C>A
c.125C>A (p.Pro42Gln)
c.-434C>A (n.-434C>A)
1g.17004757G>ACA338263296ATP13A2c.412C>T (p.Pro138Ser)
c.146C>T
c.389C>T
c.338C>T
c.124C>T (p.Pro42Ser)
c.-435C>T (n.-435C>T)
1g.17004757G>CCA338263297ATP13A2c.412C>G (p.Pro138Ala)
c.146C>G
c.389C>G
c.338C>G
c.124C>G (p.Pro42Ala)
c.-435C>G (n.-435C>G)
 dbSNP gnomAD v3 gnomAD v4
1g.17004757G=CA1156072510ATP13A2c.412C= (p.Pro138=)
c.146C=
c.389C=
c.338C=
c.124C= (p.Pro42=)
c.-435C= (n.-435C=)
1g.17004757G>TCA338263300ATP13A2c.412C>A (p.Pro138Thr)
c.146C>A
c.389C>A
c.338C>A
c.124C>A (p.Pro42Thr)
c.-435C>A (n.-435C>A)
1g.17004758T>ACA416071261ATP13A2c.411A>T (p.Val137=)
c.145A>T
c.388A>T
c.337A>T
c.123A>T (p.Val41=)
c.-436A>T (n.-436A>T)
1g.17004758T>CCA416071272ATP13A2c.411A>G (p.Val137=)
c.145A>G
c.388A>G
c.337A>G
c.123A>G (p.Val41=)
c.-436A>G (n.-436A>G)
 gnomAD v4
1g.17004758T>GCA416071264ATP13A2c.411A>C (p.Val137=)
c.145A>C
c.388A>C
c.337A>C
c.123A>C (p.Val41=)
c.-436A>C (n.-436A>C)
1g.17004759A=CA1156072515ATP13A2c.410T= (p.Val137=)
c.144T=
c.387T=
c.336T=
c.122T= (p.Val41=)
c.-437T= (n.-437T=)
1g.17004759A>CCA338263303ATP13A2c.410T>G (p.Val137Gly)
c.144T>G
c.387T>G
c.336T>G
c.122T>G (p.Val41Gly)
c.-437T>G (n.-437T>G)
 dbSNP gnomAD v3 gnomAD v4
1g.17004759A>GCA338263307ATP13A2c.410T>C (p.Val137Ala)
c.144T>C
c.387T>C
c.336T>C
c.122T>C (p.Val41Ala)
c.-437T>C (n.-437T>C)
1g.17004759A>TCA338263305ATP13A2c.410T>A (p.Val137Glu)
c.144T>A
c.387T>A
c.336T>A
c.122T>A (p.Val41Glu)
c.-437T>A (n.-437T>A)
1g.17004759_17004760delinsACCA1156072517ATP13A2c.409_410delinsGT (p.Val137=)
c.143_144delinsGT
c.386_387delinsGT
c.335_336delinsGT
c.121_122delinsGT (p.Val41=)
c.-438_-437delinsGT (n.-438_-437delinsGT)
1g.17004760C>ACA338263309ATP13A2c.409G>T (p.Val137Leu)
c.143G>T
c.386G>T
c.335G>T
c.121G>T (p.Val41Leu)
c.-438G>T (n.-438G>T)
1g.17004760C>GCA338263311ATP13A2c.409G>C (p.Val137Leu)
c.143G>C
c.386G>C
c.335G>C
c.121G>C (p.Val41Leu)
c.-438G>C (n.-438G>C)
1g.17004760C>TCA338263314ATP13A2c.409G>A (p.Val137Ile)
c.143G>A
c.386G>A
c.335G>A
c.121G>A (p.Val41Ile)
c.-438G>A (n.-438G>A)
1g.17004761delCA916082003ATP13A2c.409del (p.Val137TyrfsTer19)
c.409del (p.Val137TyrfsTer?)
c.143del
c.386del
c.335del
c.121del (p.Val41TyrfsTer19)
c.-438del (n.-438del)
 ClinVar dbSNP
1g.17004761C>ACA416071294ATP13A2c.408G>T (p.Ala136=)
c.142G>T
c.385G>T
c.334G>T
c.120G>T (p.Ala40=)
c.-439G>T (n.-439G>T)
 gnomAD v4
1g.17004761C=CA1143758080ATP13A2c.408G= (p.Ala136=)
c.142G=
c.385G=
c.334G=
c.120G= (p.Ala40=)
c.-439G= (n.-439G=)
1g.17004761C>GCA416071297ATP13A2c.408G>C (p.Ala136=)
c.142G>C
c.385G>C
c.334G>C
c.120G>C (p.Ala40=)
c.-439G>C (n.-439G>C)
1g.17004761C>TCA637651ATP13A2c.408G>A (p.Ala136=)
c.142G>A
c.385G>A
c.334G>A
c.120G>A (p.Ala40=)
c.-439G>A (n.-439G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.17004762G>ACA637652ATP13A2c.407C>T (p.Ala136Val)
c.141C>T
c.384C>T
c.333C>T
c.119C>T (p.Ala40Val)
c.-440C>T (n.-440C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.17004762G>CCA338263317ATP13A2c.407C>G (p.Ala136Gly)
c.141C>G
c.384C>G
c.333C>G
c.119C>G (p.Ala40Gly)
c.-440C>G (n.-440C>G)
1g.17004762G=CA1146921225ATP13A2c.407C= (p.Ala136=)
c.141C=
c.384C=
c.333C=
c.119C= (p.Ala40=)
c.-440C= (n.-440C=)
1g.17004762G>TCA338263318ATP13A2c.407C>A (p.Ala136Glu)
c.141C>A
c.384C>A
c.333C>A
c.119C>A (p.Ala40Glu)
c.-440C>A (n.-440C>A)
1g.17004763C>ACA338263321ATP13A2c.406G>T (p.Ala136Ser)
c.140G>T
c.383G>T
c.332G>T
c.118G>T (p.Ala40Ser)
c.-441G>T (n.-441G>T)
1g.17004763C>GCA338263324ATP13A2c.406G>C (p.Ala136Pro)
c.140G>C
c.383G>C
c.332G>C
c.118G>C (p.Ala40Pro)
c.-441G>C (n.-441G>C)
1g.17004763C>TCA338263326ATP13A2c.406G>A (p.Ala136Thr)
c.140G>A
c.383G>A
c.332G>A
c.118G>A (p.Ala40Thr)
c.-441G>A (n.-441G>A)
 gnomAD v4
1g.17004764C>ACA416071308ATP13A2c.405G>T (p.Gly135=)
c.139G>T
c.382G>T
c.331G>T
c.117G>T (p.Gly39=)
c.-442G>T (n.-442G>T)
1g.17004764C>GCA416071311ATP13A2c.405G>C (p.Gly135=)
c.139G>C
c.382G>C
c.331G>C
c.117G>C (p.Gly39=)
c.-442G>C (n.-442G>C)
1g.17004764C>TCA416071314ATP13A2c.405G>A (p.Gly135=)
c.139G>A
c.382G>A
c.331G>A
c.117G>A (p.Gly39=)
c.-442G>A (n.-442G>A)
1g.17004765C>ACA338263336ATP13A2c.404G>T (p.Gly135Val)
c.138G>T
c.381G>T
c.330G>T
c.116G>T (p.Gly39Val)
c.-443G>T (n.-443G>T)
 dbSNP gnomAD v4
1g.17004765C=CA1156072529ATP13A2c.404G= (p.Gly135=)
c.138G=
c.381G=
c.330G=
c.116G= (p.Gly39=)
c.-443G= (n.-443G=)
1g.17004765C>GCA338263334ATP13A2c.404G>C (p.Gly135Ala)
c.138G>C
c.381G>C
c.330G>C
c.116G>C (p.Gly39Ala)
c.-443G>C (n.-443G>C)
1g.17004765C>TCA338263329ATP13A2c.404G>A (p.Gly135Glu)
c.138G>A
c.381G>A
c.330G>A
c.116G>A (p.Gly39Glu)
c.-443G>A (n.-443G>A)
 gnomAD v4
1g.17004766C>ACA338263338ATP13A2c.403G>T (p.Gly135Trp)
c.137G>T
c.380G>T
c.329G>T
c.115G>T (p.Gly39Trp)
c.-444G>T (n.-444G>T)
1g.17004766C>GCA338263342ATP13A2c.403G>C (p.Gly135Arg)
c.137G>C
c.380G>C
c.329G>C
c.115G>C (p.Gly39Arg)
c.-444G>C (n.-444G>C)
1g.17004766C>TCA338263341ATP13A2c.403G>A (p.Gly135Arg)
c.137G>A
c.380G>A
c.329G>A
c.115G>A (p.Gly39Arg)
c.-444G>A (n.-444G>A)
1g.17004767A>CCA416071326ATP13A2c.402T>G (p.Val134=)
c.136T>G
c.379T>G
c.328T>G
c.114T>G (p.Val38=)
c.-445T>G (n.-445T>G)
1g.17004767A>GCA416071328ATP13A2c.402T>C (p.Val134=)
c.136T>C
c.379T>C
c.328T>C
c.114T>C (p.Val38=)
c.-445T>C (n.-445T>C)
1g.17004767A>TCA416071331ATP13A2c.402T>A (p.Val134=)
c.136T>A
c.379T>A
c.328T>A
c.114T>A (p.Val38=)
c.-445T>A (n.-445T>A)
1g.17004768A>CCA338263344ATP13A2c.401T>G (p.Val134Gly)
c.135T>G
c.378T>G
c.327T>G
c.113T>G (p.Val38Gly)
c.-446T>G (n.-446T>G)
1g.17004768A>GCA338263349ATP13A2c.401T>C (p.Val134Ala)
c.135T>C
c.378T>C
c.327T>C
c.113T>C (p.Val38Ala)
c.-446T>C (n.-446T>C)
 ClinVar dbSNP
1g.17004768A>TCA338263347ATP13A2c.401T>A (p.Val134Asp)
c.135T>A
c.378T>A
c.327T>A
c.113T>A (p.Val38Asp)
c.-446T>A (n.-446T>A)
1g.17004769C>ACA338263352ATP13A2c.400G>T (p.Val134Phe)
c.134G>T
c.377G>T
c.326G>T
c.112G>T (p.Val38Phe)
c.-447G>T (n.-447G>T)
1g.17004769C>GCA338263357ATP13A2c.400G>C (p.Val134Leu)
c.134G>C
c.377G>C
c.326G>C
c.112G>C (p.Val38Leu)
c.-447G>C (n.-447G>C)
1g.17004769C>TCA338263354ATP13A2c.400G>A (p.Val134Ile)
c.134G>A
c.377G>A
c.326G>A
c.112G>A (p.Val38Ile)
c.-447G>A (n.-447G>A)
 gnomAD v4
1g.17004770T>ACA416071353ATP13A2c.399A>T (p.Ala133=)
c.133A>T
c.376A>T
c.325A>T
c.111A>T (p.Ala37=)
c.-448A>T (n.-448A>T)
1g.17004770T>CCA416071356ATP13A2c.399A>G (p.Ala133=)
c.133A>G
c.376A>G
c.325A>G
c.111A>G (p.Ala37=)
c.-448A>G (n.-448A>G)
1g.17004770T>GCA416071357ATP13A2c.399A>C (p.Ala133=)
c.133A>C
c.376A>C
c.325A>C
c.111A>C (p.Ala37=)
c.-448A>C (n.-448A>C)
1g.17004771G>ACA338263360ATP13A2c.398C>T (p.Ala133Val)
c.132C>T
c.375C>T
c.324C>T
c.110C>T (p.Ala37Val)
c.-449C>T (n.-449C>T)
1g.17004771G>CCA338263363ATP13A2c.398C>G (p.Ala133Gly)
c.132C>G
c.375C>G
c.324C>G
c.110C>G (p.Ala37Gly)
c.-449C>G (n.-449C>G)
1g.17004771G>TCA338263366ATP13A2c.398C>A (p.Ala133Glu)
c.132C>A
c.375C>A
c.324C>A
c.110C>A (p.Ala37Glu)
c.-449C>A (n.-449C>A)
1g.17004772C>ACA338263368ATP13A2c.397G>T (p.Ala133Ser)
c.131G>T
c.374G>T
c.323G>T
c.109G>T (p.Ala37Ser)
c.-450G>T (n.-450G>T)
 gnomAD v4
1g.17004772C>GCA338263370ATP13A2c.397G>C (p.Ala133Pro)
c.131G>C
c.374G>C
c.323G>C
c.109G>C (p.Ala37Pro)
c.-450G>C (n.-450G>C)
1g.17004772C>TCA338263372ATP13A2c.397G>A (p.Ala133Thr)
c.131G>A
c.374G>A
c.323G>A
c.109G>A (p.Ala37Thr)
c.-450G>A (n.-450G>A)
1g.17004773C>ACA416071367ATP13A2c.396G>T (p.Ala132=)
c.130G>T
c.373G>T
c.322G>T
c.108G>T (p.Ala36=)
c.-451G>T (n.-451G>T)
 COSMIC COSMIC
1g.17004773C=CA1141754283ATP13A2c.396G= (p.Ala132=)
c.130G=
c.373G=
c.322G=
c.108G= (p.Ala36=)
c.-451G= (n.-451G=)
1g.17004773C>GCA416071368ATP13A2c.396G>C (p.Ala132=)
c.130G>C
c.373G>C
c.322G>C
c.108G>C (p.Ala36=)
c.-451G>C (n.-451G>C)
1g.17004773C>TCA637653ATP13A2c.396G>A (p.Ala132=)
c.130G>A
c.373G>A
c.322G>A
c.108G>A (p.Ala36=)
c.-451G>A (n.-451G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17004774G>ACA18646263ATP13A2c.395C>T (p.Ala132Val)
c.129C>T
c.372C>T
c.321C>T
c.107C>T (p.Ala36Val)
c.-452C>T (n.-452C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.17004774G>CCA338263379ATP13A2c.395C>G (p.Ala132Gly)
c.129C>G
c.372C>G
c.321C>G
c.107C>G (p.Ala36Gly)
c.-452C>G (n.-452C>G)
1g.17004774G=CA1156072534ATP13A2c.395C= (p.Ala132=)
c.129C=
c.372C=
c.321C=
c.107C= (p.Ala36=)
c.-452C= (n.-452C=)
1g.17004774G>TCA338263382ATP13A2c.395C>A (p.Ala132Glu)
c.129C>A
c.372C>A
c.321C>A
c.107C>A (p.Ala36Glu)
c.-452C>A (n.-452C>A)
1g.17004775C>ACA338263387ATP13A2c.394G>T (p.Ala132Ser)
c.128G>T
c.371G>T
c.320G>T
c.106G>T (p.Ala36Ser)
c.-453G>T (n.-453G>T)
1g.17004775C=CA1143449726ATP13A2c.394G= (p.Ala132=)
c.128G=
c.371G=
c.320G=
c.106G= (p.Ala36=)
c.-453G= (n.-453G=)
1g.17004775C>GCA338263385ATP13A2c.394G>C (p.Ala132Pro)
c.128G>C
c.371G>C
c.320G>C
c.106G>C (p.Ala36Pro)
c.-453G>C (n.-453G>C)
1g.17004775C>TCA637654ATP13A2c.394G>A (p.Ala132Thr)
c.128G>A
c.371G>A
c.320G>A
c.106G>A (p.Ala36Thr)
c.-453G>A (n.-453G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17004776C>ACA338263389ATP13A2c.393G>T (p.Gln131His)
c.127G>T
c.370G>T
c.319G>T
c.105G>T (p.Gln35His)
c.-454G>T (n.-454G>T)
1g.17004776C=CA1156072541ATP13A2c.393G= (p.Gln131=)
c.127G=
c.370G=
c.319G=
c.105G= (p.Gln35=)
c.-454G= (n.-454G=)
1g.17004776C>GCA338263392ATP13A2c.393G>C (p.Gln131His)
c.127G>C
c.370G>C
c.319G>C
c.105G>C (p.Gln35His)
c.-454G>C (n.-454G>C)
1g.17004776C>TCA416071390ATP13A2c.393G>A (p.Gln131=)
c.127G>A
c.370G>A
c.319G>A
c.105G>A (p.Gln35=)
c.-454G>A (n.-454G>A)
 dbSNP gnomAD v4

Number of alleles fetched