Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.17004690A= | CA1156072389 | ATP13A2 | c.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=) | |
1 | g.17004690A>C | CA637638 | ATP13A2 | c.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 |
1 | g.17004690A>G | CA338262846 | ATP13A2 | c.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) | |
1 | g.17004690A>T | CA338262850 | ATP13A2 | c.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) | |
1 | g.17004691C>A | CA338262855 | ATP13A2 | c.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) | |
1 | g.17004691C= | CA1156072395 | ATP13A2 | c.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=) | |
1 | g.17004691C>G | CA338262853 | ATP13A2 | c.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) | |
1 | g.17004691C>T | CA18646183 | ATP13A2 | c.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 |
1 | g.17004692C>A | CA338262857 | ATP13A2 | c.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) | |
1 | g.17004692C>G | CA338262861 | ATP13A2 | c.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 |
1 | g.17004692C>T | CA416070807 | ATP13A2 | c.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) | |
1 | g.17004693T>A | CA338262863 | ATP13A2 | c.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) | |
1 | g.17004693T>C | CA18646191 | ATP13A2 | c.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 |
1 | g.17004693T>G | CA338262883 | ATP13A2 | c.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) | |
1 | g.17004693T= | CA1156072402 | ATP13A2 | c.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=) | |
1 | g.17004694G>A | CA338262886 | ATP13A2 | c.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) | |
1 | g.17004694G>C | CA338262899 | ATP13A2 | c.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) | |
1 | g.17004694G>T | CA338262895 | ATP13A2 | c.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) | |
1 | g.17004695T>A | CA416070819 | ATP13A2 | c.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) | |
1 | g.17004695T>C | CA416070821 | ATP13A2 | c.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) | |
1 | g.17004695T>G | CA416070823 | ATP13A2 | c.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) | |
1 | g.17004696C>A | CA338262900 | ATP13A2 | c.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) | |
1 | g.17004696C>G | CA338262901 | ATP13A2 | c.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) | |
1 | g.17004696C>T | CA338262902 | ATP13A2 | c.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) | |
1 | g.17004697C>A | CA338262903 | ATP13A2 | c.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) | |
1 | g.17004697C= | CA1141349930 | ATP13A2 | c.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=) | |
1 | g.17004697C>G | CA338262905 | ATP13A2 | c.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) | |
1 | g.17004697C>T | CA637639 | ATP13A2 | c.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 |
1 | g.17004698G>A | CA637640 | ATP13A2 | c.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 |
1 | g.17004698G>C | CA416070844 | ATP13A2 | c.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) | |
1 | g.17004698G= | CA1156072408 | ATP13A2 | c.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=) | |
1 | g.17004698G>T | CA416070854 | ATP13A2 | c.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 |
1 | g.17004699A>C | CA338262918 | ATP13A2 | c.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) | |
1 | g.17004699A>G | CA338262919 | ATP13A2 | c.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) | |
1 | g.17004699A>T | CA338262922 | ATP13A2 | c.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) | |
1 | g.17004700C>A | CA338262942 | ATP13A2 | c.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 |
1 | g.17004700C= | CA1156072409 | ATP13A2 | c.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=) | |
1 | g.17004700C>G | CA338262939 | ATP13A2 | c.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) | |
1 | g.17004700C>T | CA338262933 | ATP13A2 | c.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 |
1 | g.17004701A>C | CA338262943 | ATP13A2 | c.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) | |
1 | g.17004701A>G | CA416070880 | ATP13A2 | c.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 |
1 | g.17004701A>T | CA338262944 | ATP13A2 | c.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) | |
1 | g.17004702C>A | CA338262945 | ATP13A2 | c.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) | |
1 | g.17004702C= | CA1156072412 | ATP13A2 | c.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=) | |
1 | g.17004702C>G | CA637641 | ATP13A2 | c.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 |
1 | g.17004702C>T | CA338262948 | ATP13A2 | c.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) | |
1 | g.17004703T>A | CA338262952 | ATP13A2 | c.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) | |
1 | g.17004703T>C | CA338262951 | ATP13A2 | c.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 |
1 | g.17004703T>G | CA338262950 | ATP13A2 | c.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) | |
1 | g.17004704C>A | CA416070895 | ATP13A2 | c.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) | |
1 | g.17004704C>G | CA416070894 | ATP13A2 | c.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 |
1 | g.17004704C>T | CA416070893 | ATP13A2 | c.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 |
1 | g.17004705A= | CA1156072414 | ATP13A2 | c.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=) | |
1 | g.17004705A>C | CA338262953 | ATP13A2 | c.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 |
1 | g.17004705A>G | CA338262954 | ATP13A2 | c.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) | |
1 | g.17004705A>T | CA338262957 | ATP13A2 | c.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) | |
1 | g.17004706C>A | CA338262962 | ATP13A2 | c.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) | |
1 | g.17004706C>G | CA338262963 | ATP13A2 | c.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) | |
1 | g.17004706C>T | CA338262965 | ATP13A2 | c.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) | |
1 | g.17004707C>A | CA416070918 | ATP13A2 | c.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 |
1 | g.17004707C= | CA1156072417 | ATP13A2 | c.462G= (p.Ala154=) c.196G= c.439G= c.388G= c.174G= (p.Ala58=) c.-385G= (n.-385G=) | |
1 | g.17004707C>G | CA416070921 | ATP13A2 | c.462G>C (p.Ala154=) c.196G>C c.439G>C c.388G>C c.174G>C (p.Ala58=) c.-385G>C (n.-385G>C) | |
1 | g.17004707C>T | CA416070923 | ATP13A2 | c.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 |
1 | g.17004708G>A | CA637642 | ATP13A2 | c.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 |
1 | g.17004708G>C | CA338262967 | ATP13A2 | c.461C>G (p.Ala154Gly) c.195C>G c.438C>G c.387C>G c.173C>G (p.Ala58Gly) c.-386C>G (n.-386C>G) | |
1 | g.17004708G= | CA1144107836 | ATP13A2 | c.461C= (p.Ala154=) c.195C= c.438C= c.387C= c.173C= (p.Ala58=) c.-386C= (n.-386C=) | |
1 | g.17004708G>T | CA338262966 | ATP13A2 | c.461C>A (p.Ala154Glu) c.195C>A c.438C>A c.387C>A c.173C>A (p.Ala58Glu) c.-386C>A (n.-386C>A) | |
1 | g.17004709C>A | CA338262968 | ATP13A2 | c.460G>T (p.Ala154Ser) c.194G>T c.437G>T c.386G>T c.172G>T (p.Ala58Ser) c.-387G>T (n.-387G>T) | |
1 | g.17004709C>G | CA338262972 | ATP13A2 | c.460G>C (p.Ala154Pro) c.194G>C c.437G>C c.386G>C c.172G>C (p.Ala58Pro) c.-387G>C (n.-387G>C) | |
1 | g.17004709C>T | CA338262973 | ATP13A2 | c.460G>A (p.Ala154Thr) c.194G>A c.437G>A c.386G>A c.172G>A (p.Ala58Thr) c.-387G>A (n.-387G>A) | |
1 | g.17004710C>A | CA338262976 | ATP13A2 | c.459G>T (p.Glu153Asp) c.193G>T c.436G>T c.385G>T c.171G>T (p.Glu57Asp) c.-388G>T (n.-388G>T) | |
1 | g.17004710C>G | CA338262977 | ATP13A2 | c.459G>C (p.Glu153Asp) c.193G>C c.436G>C c.385G>C c.171G>C (p.Glu57Asp) c.-388G>C (n.-388G>C) | |
1 | g.17004710C>T | CA416070965 | ATP13A2 | c.459G>A (p.Glu153=) c.193G>A c.436G>A c.385G>A c.171G>A (p.Glu57=) c.-388G>A (n.-388G>A) | |
1 | g.17004711T>A | CA338262980 | ATP13A2 | c.458A>T (p.Glu153Val) c.192A>T c.435A>T c.384A>T c.170A>T (p.Glu57Val) c.-389A>T (n.-389A>T) | |
1 | g.17004711T>C | CA338262982 | ATP13A2 | c.458A>G (p.Glu153Gly) c.192A>G c.435A>G c.384A>G c.170A>G (p.Glu57Gly) c.-389A>G (n.-389A>G) | |
1 | g.17004711T>G | CA338262984 | ATP13A2 | c.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 |
1 | g.17004712C>A | CA338262987 | ATP13A2 | c.457G>T (p.Glu153Ter) c.191G>T c.434G>T c.383G>T c.169G>T (p.Glu57Ter) c.-390G>T (n.-390G>T) | |
1 | g.17004712C>G | CA338262990 | ATP13A2 | c.457G>C (p.Glu153Gln) c.191G>C c.434G>C c.383G>C c.169G>C (p.Glu57Gln) c.-390G>C (n.-390G>C) | |
1 | g.17004712C>T | CA338262994 | ATP13A2 | c.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 |
1 | g.17004713C>A | CA338263001 | ATP13A2 | c.456G>T (p.Glu152Asp) c.190G>T c.433G>T c.382G>T c.168G>T (p.Glu56Asp) c.-391G>T (n.-391G>T) | |
1 | g.17004713C>G | CA338263002 | ATP13A2 | c.456G>C (p.Glu152Asp) c.190G>C c.433G>C c.382G>C c.168G>C (p.Glu56Asp) c.-391G>C (n.-391G>C) | |
1 | g.17004713C>T | CA416071002 | ATP13A2 | c.456G>A (p.Glu152=) c.190G>A c.433G>A c.382G>A c.168G>A (p.Glu56=) c.-391G>A (n.-391G>A) | |
1 | g.17004714T>A | CA338263005 | ATP13A2 | c.455A>T (p.Glu152Val) c.189A>T c.432A>T c.381A>T c.167A>T (p.Glu56Val) c.-392A>T (n.-392A>T) | |
1 | g.17004714T>C | CA637643 | ATP13A2 | c.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 |
1 | g.17004714T>G | CA338263007 | ATP13A2 | c.455A>C (p.Glu152Ala) c.189A>C c.432A>C c.381A>C c.167A>C (p.Glu56Ala) c.-392A>C (n.-392A>C) | |
1 | g.17004714T= | CA1148727383 | ATP13A2 | c.455A= (p.Glu152=) c.189A= c.432A= c.381A= c.167A= (p.Glu56=) c.-392A= (n.-392A=) | |
1 | g.17004715C>A | CA338263018 | ATP13A2 | c.454G>T (p.Glu152Ter) c.188G>T c.431G>T c.380G>T c.166G>T (p.Glu56Ter) c.-393G>T (n.-393G>T) | |
1 | g.17004715C= | CA1156072426 | ATP13A2 | c.454G= (p.Glu152=) c.188G= c.431G= c.380G= c.166G= (p.Glu56=) c.-393G= (n.-393G=) | |
1 | g.17004715C>G | CA338263029 | ATP13A2 | c.454G>C (p.Glu152Gln) c.188G>C c.431G>C c.380G>C c.166G>C (p.Glu56Gln) c.-393G>C (n.-393G>C) | |
1 | g.17004715C>T | CA338263020 | ATP13A2 | c.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 |
1 | g.17004716G>A | CA637644 | ATP13A2 | c.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 |
1 | g.17004716G>C | CA338263034 | ATP13A2 | c.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 |
1 | g.17004716G= | CA1140628851 | ATP13A2 | c.453C= (p.Ser151=) c.187C= c.430C= c.379C= c.165C= (p.Ser55=) c.-394C= (n.-394C=) | |
1 | g.17004716G>T | CA338263045 | ATP13A2 | c.453C>A (p.Ser151Arg) c.187C>A c.430C>A c.379C>A c.165C>A (p.Ser55Arg) c.-394C>A (n.-394C>A) | |
1 | g.17004717C>A | CA338263047 | ATP13A2 | c.452G>T (p.Ser151Ile) c.186G>T c.429G>T c.378G>T c.164G>T (p.Ser55Ile) c.-395G>T (n.-395G>T) | |
1 | g.17004717C>G | CA338263055 | ATP13A2 | c.452G>C (p.Ser151Thr) c.186G>C c.429G>C c.378G>C c.164G>C (p.Ser55Thr) c.-395G>C (n.-395G>C) | |
1 | g.17004717C>T | CA338263056 | ATP13A2 | c.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 |
1 | g.17004718T>A | CA338263059 | ATP13A2 | c.451A>T (p.Ser151Cys) c.185A>T c.428A>T c.377A>T c.163A>T (p.Ser55Cys) c.-396A>T (n.-396A>T) | |
1 | g.17004718T>C | CA338263061 | ATP13A2 | c.451A>G (p.Ser151Gly) c.185A>G c.428A>G c.377A>G c.163A>G (p.Ser55Gly) c.-396A>G (n.-396A>G) | |
1 | g.17004718T>G | CA338263063 | ATP13A2 | c.451A>C (p.Ser151Arg) c.185A>C c.428A>C c.377A>C c.163A>C (p.Ser55Arg) c.-396A>C (n.-396A>C) | |
1 | g.17004719C>A | CA338263066 | ATP13A2 | c.450G>T (p.Lys150Asn) c.184G>T c.427G>T c.376G>T c.162G>T (p.Lys54Asn) c.-397G>T (n.-397G>T) | |
1 | g.17004719C>G | CA338263067 | ATP13A2 | c.450G>C (p.Lys150Asn) c.184G>C c.427G>C c.376G>C c.162G>C (p.Lys54Asn) c.-397G>C (n.-397G>C) | |
1 | g.17004719C>T | CA416071023 | ATP13A2 | c.450G>A (p.Lys150=) c.184G>A c.427G>A c.376G>A c.162G>A (p.Lys54=) c.-397G>A (n.-397G>A) | |
1 | g.17004720T>A | CA338263070 | ATP13A2 | c.449A>T (p.Lys150Met) c.183A>T c.426A>T c.375A>T c.161A>T (p.Lys54Met) c.-398A>T (n.-398A>T) | |
1 | g.17004720T>C | CA338263069 | ATP13A2 | c.449A>G (p.Lys150Arg) c.183A>G c.426A>G c.375A>G c.161A>G (p.Lys54Arg) c.-398A>G (n.-398A>G) | |
1 | g.17004720T>G | CA338263068 | ATP13A2 | c.449A>C (p.Lys150Thr) c.183A>C c.426A>C c.375A>C c.161A>C (p.Lys54Thr) c.-398A>C (n.-398A>C) | |
1 | g.17004721T>A | CA338263071 | ATP13A2 | c.448A>T (p.Lys150Ter) c.182A>T c.425A>T c.374A>T c.160A>T (p.Lys54Ter) c.-399A>T (n.-399A>T) | |
1 | g.17004721T>C | CA338263075 | ATP13A2 | c.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 |
1 | g.17004721T>G | CA338263099 | ATP13A2 | c.448A>C (p.Lys150Gln) c.182A>C c.425A>C c.374A>C c.160A>C (p.Lys54Gln) c.-399A>C (n.-399A>C) | |
1 | g.17004721T= | CA1156072432 | ATP13A2 | c.448A= (p.Lys150=) c.182A= c.425A= c.374A= c.160A= (p.Lys54=) c.-399A= (n.-399A=) | |
1 | g.17004722del | CA2643675161 | ATP13A2 | c.447del (p.His149GlnfsTer7) c.447del (p.His149GlnfsTer?) c.181del c.424del c.373del c.159del (p.His53GlnfsTer7) c.-400del (n.-400del) | gnomAD v4 |
1 | g.17004722G>A | CA416071037 | ATP13A2 | c.447C>T (p.His149=) c.181C>T c.424C>T c.373C>T c.159C>T (p.His53=) c.-400C>T (n.-400C>T) | |
1 | g.17004722G>C | CA338263103 | ATP13A2 | c.447C>G (p.His149Gln) c.181C>G c.424C>G c.373C>G c.159C>G (p.His53Gln) c.-400C>G (n.-400C>G) | |
1 | g.17004722G>T | CA338263114 | ATP13A2 | c.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 |
1 | g.17004723T>A | CA338263117 | ATP13A2 | c.446A>T (p.His149Leu) c.180A>T c.423A>T c.372A>T c.158A>T (p.His53Leu) c.-401A>T (n.-401A>T) | |
1 | g.17004723T>C | CA637645 | ATP13A2 | c.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 |
1 | g.17004723T>G | CA338263120 | ATP13A2 | c.446A>C (p.His149Pro) c.180A>C c.423A>C c.372A>C c.158A>C (p.His53Pro) c.-401A>C (n.-401A>C) | |
1 | g.17004723T= | CA1156072435 | ATP13A2 | c.446A= (p.His149=) c.180A= c.423A= c.372A= c.158A= (p.His53=) c.-401A= (n.-401A=) | |
1 | g.17004724G>A | CA338263122 | ATP13A2 | c.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 |
1 | g.17004724G>C | CA338263123 | ATP13A2 | c.445C>G (p.His149Asp) c.179C>G c.422C>G c.371C>G c.157C>G (p.His53Asp) c.-402C>G (n.-402C>G) | |
1 | g.17004724G>T | CA338263125 | ATP13A2 | c.445C>A (p.His149Asn) c.179C>A c.422C>A c.371C>A c.157C>A (p.His53Asn) c.-402C>A (n.-402C>A) | |
1 | g.17004725G>A | CA416071056 | ATP13A2 | c.444C>T (p.Leu148=) c.178C>T c.421C>T c.370C>T c.156C>T (p.Leu52=) c.-403C>T (n.-403C>T) | |
1 | g.17004725G>C | CA416071057 | ATP13A2 | c.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 |
1 | g.17004725G>T | CA416071058 | ATP13A2 | c.444C>A (p.Leu148=) c.178C>A c.421C>A c.370C>A c.156C>A (p.Leu52=) c.-403C>A (n.-403C>A) | |
1 | g.17004726A>C | CA338263130 | ATP13A2 | c.443T>G (p.Leu148Arg) c.177T>G c.420T>G c.369T>G c.155T>G (p.Leu52Arg) c.-404T>G (n.-404T>G) | |
1 | g.17004726A>G | CA338263129 | ATP13A2 | c.443T>C (p.Leu148Pro) c.177T>C c.420T>C c.369T>C c.155T>C (p.Leu52Pro) c.-404T>C (n.-404T>C) | |
1 | g.17004726A>T | CA338263127 | ATP13A2 | c.443T>A (p.Leu148His) c.177T>A c.420T>A c.369T>A c.155T>A (p.Leu52His) c.-404T>A (n.-404T>A) | |
1 | g.17004727G>A | CA338263133 | ATP13A2 | c.442C>T (p.Leu148Phe) c.176C>T c.419C>T c.368C>T c.154C>T (p.Leu52Phe) c.-405C>T (n.-405C>T) | |
1 | g.17004727G>C | CA338263134 | ATP13A2 | c.442C>G (p.Leu148Val) c.176C>G c.419C>G c.368C>G c.154C>G (p.Leu52Val) c.-405C>G (n.-405C>G) | |
1 | g.17004727G>T | CA338263135 | ATP13A2 | c.442C>A (p.Leu148Ile) c.176C>A c.419C>A c.368C>A c.154C>A (p.Leu52Ile) c.-405C>A (n.-405C>A) | |
1 | g.17004728C>A | CA338263136 | ATP13A2 | c.441G>T (p.Gln147His) c.175G>T c.418G>T c.367G>T c.153G>T (p.Gln51His) c.-406G>T (n.-406G>T) | |
1 | g.17004728C= | CA1156072458 | ATP13A2 | c.441G= (p.Gln147=) c.175G= c.418G= c.367G= c.153G= (p.Gln51=) c.-406G= (n.-406G=) | |
1 | g.17004728C>G | CA338263137 | ATP13A2 | c.441G>C (p.Gln147His) c.175G>C c.418G>C c.367G>C c.153G>C (p.Gln51His) c.-406G>C (n.-406G>C) | |
1 | g.17004728C>T | CA18646243 | ATP13A2 | c.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 |
1 | g.17004729T>A | CA338263139 | ATP13A2 | c.440A>T (p.Gln147Leu) c.174A>T c.417A>T c.366A>T c.152A>T (p.Gln51Leu) c.-407A>T (n.-407A>T) | |
1 | g.17004729T>C | CA338263141 | ATP13A2 | c.440A>G (p.Gln147Arg) c.174A>G c.417A>G c.366A>G c.152A>G (p.Gln51Arg) c.-407A>G (n.-407A>G) | |
1 | g.17004729T>G | CA338263143 | ATP13A2 | c.440A>C (p.Gln147Pro) c.174A>C c.417A>C c.366A>C c.152A>C (p.Gln51Pro) c.-407A>C (n.-407A>C) | |
1 | g.17004730G>A | CA338263148 | ATP13A2 | c.439C>T (p.Gln147Ter) c.173C>T c.416C>T c.365C>T c.151C>T (p.Gln51Ter) c.-408C>T (n.-408C>T) | |
1 | g.17004730G>C | CA338263151 | ATP13A2 | c.439C>G (p.Gln147Glu) c.173C>G c.416C>G c.365C>G c.151C>G (p.Gln51Glu) c.-408C>G (n.-408C>G) | |
1 | g.17004730G>T | CA338263153 | ATP13A2 | c.439C>A (p.Gln147Lys) c.173C>A c.416C>A c.365C>A c.151C>A (p.Gln51Lys) c.-408C>A (n.-408C>A) | |
1 | g.17004731G>A | CA416071101 | ATP13A2 | c.438C>T (p.Ala146=) c.172C>T c.415C>T c.364C>T c.150C>T (p.Ala50=) c.-409C>T (n.-409C>T) | |
1 | g.17004731G>C | CA637646 | ATP13A2 | c.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 |
1 | g.17004731G= | CA1149120471 | ATP13A2 | c.438C= (p.Ala146=) c.172C= c.415C= c.364C= c.150C= (p.Ala50=) c.-409C= (n.-409C=) | |
1 | g.17004731G>T | CA416071094 | ATP13A2 | c.438C>A (p.Ala146=) c.172C>A c.415C>A c.364C>A c.150C>A (p.Ala50=) c.-409C>A (n.-409C>A) | |
1 | g.17004732G>A | CA338263156 | ATP13A2 | c.437C>T (p.Ala146Val) c.171C>T c.414C>T c.363C>T c.149C>T (p.Ala50Val) c.-410C>T (n.-410C>T) | |
1 | g.17004732G>C | CA338263155 | ATP13A2 | c.437C>G (p.Ala146Gly) c.171C>G c.414C>G c.363C>G c.149C>G (p.Ala50Gly) c.-410C>G (n.-410C>G) | |
1 | g.17004732G>T | CA338263154 | ATP13A2 | c.437C>A (p.Ala146Asp) c.171C>A c.414C>A c.363C>A c.149C>A (p.Ala50Asp) c.-410C>A (n.-410C>A) | |
1 | g.17004733C>A | CA338263157 | ATP13A2 | c.436G>T (p.Ala146Ser) c.170G>T c.413G>T c.362G>T c.148G>T (p.Ala50Ser) c.-411G>T (n.-411G>T) | |
1 | g.17004733C>G | CA338263160 | ATP13A2 | c.436G>C (p.Ala146Pro) c.170G>C c.413G>C c.362G>C c.148G>C (p.Ala50Pro) c.-411G>C (n.-411G>C) | |
1 | g.17004733C>T | CA338263161 | ATP13A2 | c.436G>A (p.Ala146Thr) c.170G>A c.413G>A c.362G>A c.148G>A (p.Ala50Thr) c.-411G>A (n.-411G>A) | |
1 | g.17004734C>A | CA416071114 | ATP13A2 | c.435G>T (p.Thr145=) c.169G>T c.412G>T c.361G>T c.147G>T (p.Thr49=) c.-412G>T (n.-412G>T) | |
1 | g.17004734C= | CA1143463881 | ATP13A2 | c.435G= (p.Thr145=) c.169G= c.412G= c.361G= c.147G= (p.Thr49=) c.-412G= (n.-412G=) | |
1 | g.17004734C>G | CA416071117 | ATP13A2 | c.435G>C (p.Thr145=) c.169G>C c.412G>C c.361G>C c.147G>C (p.Thr49=) c.-412G>C (n.-412G>C) | |
1 | g.17004734C>T | CA637647 | ATP13A2 | c.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 |
1 | g.17004735G>A | CA637648 | ATP13A2 | c.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 |
1 | g.17004735G>C | CA338263168 | ATP13A2 | c.434C>G (p.Thr145Arg) c.168C>G c.411C>G c.360C>G c.146C>G (p.Thr49Arg) c.-413C>G (n.-413C>G) | |
1 | g.17004735G= | CA1156072466 | ATP13A2 | c.434C= (p.Thr145=) c.168C= c.411C= c.360C= c.146C= (p.Thr49=) c.-413C= (n.-413C=) | |
1 | g.17004735G>T | CA338263173 | ATP13A2 | c.434C>A (p.Thr145Lys) c.168C>A c.411C>A c.360C>A c.146C>A (p.Thr49Lys) c.-413C>A (n.-413C>A) | |
1 | g.17004736T>A | CA338263174 | ATP13A2 | c.433A>T (p.Thr145Ser) c.167A>T c.410A>T c.359A>T c.145A>T (p.Thr49Ser) c.-414A>T (n.-414A>T) | |
1 | g.17004736T>C | CA338263175 | ATP13A2 | c.433A>G (p.Thr145Ala) c.167A>G c.410A>G c.359A>G c.145A>G (p.Thr49Ala) c.-414A>G (n.-414A>G) | |
1 | g.17004736T>G | CA338263176 | ATP13A2 | c.433A>C (p.Thr145Pro) c.167A>C c.410A>C c.359A>C c.145A>C (p.Thr49Pro) c.-414A>C (n.-414A>C) | |
1 | g.17004737A>C | CA338263177 | ATP13A2 | c.432T>G (p.Asp144Glu) c.166T>G c.409T>G c.358T>G c.144T>G (p.Asp48Glu) c.-415T>G (n.-415T>G) | |
1 | g.17004737A>G | CA416071153 | ATP13A2 | c.432T>C (p.Asp144=) c.166T>C c.409T>C c.358T>C c.144T>C (p.Asp48=) c.-415T>C (n.-415T>C) | |
1 | g.17004737A>T | CA338263178 | ATP13A2 | c.432T>A (p.Asp144Glu) c.166T>A c.409T>A c.358T>A c.144T>A (p.Asp48Glu) c.-415T>A (n.-415T>A) | |
1 | g.17004738T>A | CA637649 | ATP13A2 | c.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 |
1 | g.17004738T>C | CA338263181 | ATP13A2 | c.431A>G (p.Asp144Gly) c.165A>G c.408A>G c.357A>G c.143A>G (p.Asp48Gly) c.-416A>G (n.-416A>G) | |
1 | g.17004738T>G | CA338263179 | ATP13A2 | c.431A>C (p.Asp144Ala) c.165A>C c.408A>C c.357A>C c.143A>C (p.Asp48Ala) c.-416A>C (n.-416A>C) | |
1 | g.17004738T= | CA1142028250 | ATP13A2 | c.431A= (p.Asp144=) c.165A= c.408A= c.357A= c.143A= (p.Asp48=) c.-416A= (n.-416A=) | |
1 | g.17004739C>A | CA338263185 | ATP13A2 | c.430G>T (p.Asp144Tyr) c.164G>T c.407G>T c.356G>T c.142G>T (p.Asp48Tyr) c.-417G>T (n.-417G>T) | |
1 | g.17004739C>G | CA338263190 | ATP13A2 | c.430G>C (p.Asp144His) c.164G>C c.407G>C c.356G>C c.142G>C (p.Asp48His) c.-417G>C (n.-417G>C) | |
1 | g.17004739C>T | CA338263187 | ATP13A2 | c.430G>A (p.Asp144Asn) c.164G>A c.407G>A c.356G>A c.142G>A (p.Asp48Asn) c.-417G>A (n.-417G>A) | |
1 | g.17004740C>A | CA338263192 | ATP13A2 | c.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 |
1 | g.17004740C= | CA1156072477 | ATP13A2 | c.429G= (p.Lys143=) c.163G= c.406G= c.355G= c.141G= (p.Lys47=) c.-418G= (n.-418G=) | |
1 | g.17004740C>G | CA338263194 | ATP13A2 | c.429G>C (p.Lys143Asn) c.163G>C c.406G>C c.355G>C c.141G>C (p.Lys47Asn) c.-418G>C (n.-418G>C) | |
1 | g.17004740C>T | CA416071167 | ATP13A2 | c.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 |
1 | g.17004741T>A | CA338263197 | ATP13A2 | c.428A>T (p.Lys143Met) c.162A>T c.405A>T c.354A>T c.140A>T (p.Lys47Met) c.-419A>T (n.-419A>T) | |
1 | g.17004741T>C | CA338263205 | ATP13A2 | c.428A>G (p.Lys143Arg) c.162A>G c.405A>G c.354A>G c.140A>G (p.Lys47Arg) c.-419A>G (n.-419A>G) | |
1 | g.17004741T>G | CA338263207 | ATP13A2 | c.428A>C (p.Lys143Thr) c.162A>C c.405A>C c.354A>C c.140A>C (p.Lys47Thr) c.-419A>C (n.-419A>C) | |
1 | g.17004742T>A | CA338263210 | ATP13A2 | c.427A>T (p.Lys143Ter) c.161A>T c.404A>T c.353A>T c.139A>T (p.Lys47Ter) c.-420A>T (n.-420A>T) | |
1 | g.17004742T>C | CA637650 | ATP13A2 | c.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 |
1 | g.17004742T>G | CA338263218 | ATP13A2 | c.427A>C (p.Lys143Gln) c.161A>C c.404A>C c.353A>C c.139A>C (p.Lys47Gln) c.-420A>C (n.-420A>C) | |
1 | g.17004742T= | CA1156072479 | ATP13A2 | c.427A= (p.Lys143=) c.161A= c.404A= c.353A= c.139A= (p.Lys47=) c.-420A= (n.-420A=) | |
1 | g.17004743C>A | CA338263220 | ATP13A2 | c.426G>T (p.Trp142Cys) c.160G>T c.403G>T c.352G>T c.138G>T (p.Trp46Cys) c.-421G>T (n.-421G>T) | |
1 | g.17004743C>G | CA338263222 | ATP13A2 | c.426G>C (p.Trp142Cys) c.160G>C c.403G>C c.352G>C c.138G>C (p.Trp46Cys) c.-421G>C (n.-421G>C) | |
1 | g.17004743C>T | CA338263225 | ATP13A2 | c.426G>A (p.Trp142Ter) c.160G>A c.403G>A c.352G>A c.138G>A (p.Trp46Ter) c.-421G>A (n.-421G>A) | |
1 | g.17004744C>A | CA338263236 | ATP13A2 | c.425G>T (p.Trp142Leu) c.159G>T c.402G>T c.351G>T c.137G>T (p.Trp46Leu) c.-422G>T (n.-422G>T) | |
1 | g.17004744C>G | CA338263234 | ATP13A2 | c.425G>C (p.Trp142Ser) c.159G>C c.402G>C c.351G>C c.137G>C (p.Trp46Ser) c.-422G>C (n.-422G>C) | |
1 | g.17004744C>T | CA338263231 | ATP13A2 | c.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 |
1 | g.17004745A>C | CA338263242 | ATP13A2 | c.424T>G (p.Trp142Gly) c.158T>G c.401T>G c.350T>G c.136T>G (p.Trp46Gly) c.-423T>G (n.-423T>G) | |
1 | g.17004745A>G | CA338263245 | ATP13A2 | c.424T>C (p.Trp142Arg) c.158T>C c.401T>C c.350T>C c.136T>C (p.Trp46Arg) c.-423T>C (n.-423T>C) | |
1 | g.17004745A>T | CA338263247 | ATP13A2 | c.424T>A (p.Trp142Arg) c.158T>A c.401T>A c.350T>A c.136T>A (p.Trp46Arg) c.-423T>A (n.-423T>A) | |
1 | g.17004746G>A | CA416071193 | ATP13A2 | c.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 |
1 | g.17004746G>C | CA416071194 | ATP13A2 | c.423C>G (p.Ala141=) c.157C>G c.400C>G c.349C>G c.135C>G (p.Ala45=) c.-424C>G (n.-424C>G) | |
1 | g.17004746G= | CA1156072482 | ATP13A2 | c.423C= (p.Ala141=) c.157C= c.400C= c.349C= c.135C= (p.Ala45=) c.-424C= (n.-424C=) | |
1 | g.17004746G>T | CA416071192 | ATP13A2 | c.423C>A (p.Ala141=) c.157C>A c.400C>A c.349C>A c.135C>A (p.Ala45=) c.-424C>A (n.-424C>A) | |
1 | g.17004747G>A | CA338263249 | ATP13A2 | c.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 |
1 | g.17004747G>C | CA338263252 | ATP13A2 | c.422C>G (p.Ala141Gly) c.156C>G c.399C>G c.348C>G c.134C>G (p.Ala45Gly) c.-425C>G (n.-425C>G) | |
1 | g.17004747G>T | CA338263253 | ATP13A2 | c.422C>A (p.Ala141Asp) c.156C>A c.399C>A c.348C>A c.134C>A (p.Ala45Asp) c.-425C>A (n.-425C>A) | |
1 | g.17004748C>A | CA338263255 | ATP13A2 | c.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 |
1 | g.17004748C= | CA1156072488 | ATP13A2 | c.421G= (p.Ala141=) c.155G= c.398G= c.347G= c.133G= (p.Ala45=) c.-426G= (n.-426G=) | |
1 | g.17004748C>G | CA338263257 | ATP13A2 | c.421G>C (p.Ala141Pro) c.155G>C c.398G>C c.347G>C c.133G>C (p.Ala45Pro) c.-426G>C (n.-426G>C) | |
1 | g.17004748C>T | CA338263259 | ATP13A2 | c.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 |
1 | g.17004749A= | CA1156072490 | ATP13A2 | c.420T= (p.Gly140=) c.154T= c.397T= c.346T= c.132T= (p.Gly44=) c.-427T= (n.-427T=) | |
1 | g.17004749A>C | CA416071205 | ATP13A2 | c.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 |
1 | g.17004749A>G | CA416071209 | ATP13A2 | c.420T>C (p.Gly140=) c.154T>C c.397T>C c.346T>C c.132T>C (p.Gly44=) c.-427T>C (n.-427T>C) | |
1 | g.17004749A>T | CA416071213 | ATP13A2 | c.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 |
1 | g.17004750C>A | CA338263261 | ATP13A2 | c.419G>T (p.Gly140Val) c.153G>T c.396G>T c.345G>T c.131G>T (p.Gly44Val) c.-428G>T (n.-428G>T) | |
1 | g.17004750C= | CA1156072495 | ATP13A2 | c.419G= (p.Gly140=) c.153G= c.396G= c.345G= c.131G= (p.Gly44=) c.-428G= (n.-428G=) | |
1 | g.17004750C>G | CA338263262 | ATP13A2 | c.419G>C (p.Gly140Ala) c.153G>C c.396G>C c.345G>C c.131G>C (p.Gly44Ala) c.-428G>C (n.-428G>C) | |
1 | g.17004750C>T | CA338263264 | ATP13A2 | c.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 |
1 | g.17004751C>A | CA338263271 | ATP13A2 | c.418G>T (p.Gly140Cys) c.152G>T c.395G>T c.344G>T c.130G>T (p.Gly44Cys) c.-429G>T (n.-429G>T) | |
1 | g.17004751C= | CA1156072505 | ATP13A2 | c.418G= (p.Gly140=) c.152G= c.395G= c.344G= c.130G= (p.Gly44=) c.-429G= (n.-429G=) | |
1 | g.17004751C>G | CA338263268 | ATP13A2 | c.418G>C (p.Gly140Arg) c.152G>C c.395G>C c.344G>C c.130G>C (p.Gly44Arg) c.-429G>C (n.-429G>C) | |
1 | g.17004751C>T | CA338263266 | ATP13A2 | c.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 |
1 | g.17004757_17004795dup | CA521449950 | ATP13A2 | c.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 |
1 | g.17004752C>A | CA338263274 | ATP13A2 | c.417G>T (p.Glu139Asp) c.151G>T c.394G>T c.343G>T c.129G>T (p.Glu43Asp) c.-430G>T (n.-430G>T) | |
1 | g.17004752C= | CA1156072508 | ATP13A2 | c.417G= (p.Glu139=) c.151G= c.394G= c.343G= c.129G= (p.Glu43=) c.-430G= (n.-430G=) | |
1 | g.17004752C>G | CA338263277 | ATP13A2 | c.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 |
1 | g.17004752C>T | CA416071222 | ATP13A2 | c.417G>A (p.Glu139=) c.151G>A c.394G>A c.343G>A c.129G>A (p.Glu43=) c.-430G>A (n.-430G>A) | |
1 | g.17004754_17004755dup | CA2643675231 | ATP13A2 | c.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 |
1 | g.17004753T>A | CA338263279 | ATP13A2 | c.416A>T (p.Glu139Val) c.150A>T c.393A>T c.342A>T c.128A>T (p.Glu43Val) c.-431A>T (n.-431A>T) | |
1 | g.17004753T>C | CA338263282 | ATP13A2 | c.416A>G (p.Glu139Gly) c.150A>G c.393A>G c.342A>G c.128A>G (p.Glu43Gly) c.-431A>G (n.-431A>G) | |
1 | g.17004753T>G | CA338263284 | ATP13A2 | c.416A>C (p.Glu139Ala) c.150A>C c.393A>C c.342A>C c.128A>C (p.Glu43Ala) c.-431A>C (n.-431A>C) | |
1 | g.17004754C>A | CA338263288 | ATP13A2 | c.415G>T (p.Glu139Ter) c.149G>T c.392G>T c.341G>T c.127G>T (p.Glu43Ter) c.-432G>T (n.-432G>T) | |
1 | g.17004754C>G | CA338263287 | ATP13A2 | c.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 |
1 | g.17004754C>T | CA338263285 | ATP13A2 | c.415G>A (p.Glu139Lys) c.149G>A c.392G>A c.341G>A c.127G>A (p.Glu43Lys) c.-432G>A (n.-432G>A) | |
1 | g.17004755T>A | CA416071240 | ATP13A2 | c.414A>T (p.Pro138=) c.148A>T c.391A>T c.340A>T c.126A>T (p.Pro42=) c.-433A>T (n.-433A>T) | |
1 | g.17004755T>C | CA416071243 | ATP13A2 | c.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 |
1 | g.17004755T>G | CA416071246 | ATP13A2 | c.414A>C (p.Pro138=) c.148A>C c.391A>C c.340A>C c.126A>C (p.Pro42=) c.-433A>C (n.-433A>C) | |
1 | g.17004756G>A | CA338263290 | ATP13A2 | c.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 |
1 | g.17004756G>C | CA338263292 | ATP13A2 | c.413C>G (p.Pro138Arg) c.147C>G c.390C>G c.339C>G c.125C>G (p.Pro42Arg) c.-434C>G (n.-434C>G) | |
1 | g.17004756G>T | CA338263293 | ATP13A2 | c.413C>A (p.Pro138Gln) c.147C>A c.390C>A c.339C>A c.125C>A (p.Pro42Gln) c.-434C>A (n.-434C>A) | |
1 | g.17004757G>A | CA338263296 | ATP13A2 | c.412C>T (p.Pro138Ser) c.146C>T c.389C>T c.338C>T c.124C>T (p.Pro42Ser) c.-435C>T (n.-435C>T) | |
1 | g.17004757G>C | CA338263297 | ATP13A2 | c.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 |
1 | g.17004757G= | CA1156072510 | ATP13A2 | c.412C= (p.Pro138=) c.146C= c.389C= c.338C= c.124C= (p.Pro42=) c.-435C= (n.-435C=) | |
1 | g.17004757G>T | CA338263300 | ATP13A2 | c.412C>A (p.Pro138Thr) c.146C>A c.389C>A c.338C>A c.124C>A (p.Pro42Thr) c.-435C>A (n.-435C>A) | |
1 | g.17004758T>A | CA416071261 | ATP13A2 | c.411A>T (p.Val137=) c.145A>T c.388A>T c.337A>T c.123A>T (p.Val41=) c.-436A>T (n.-436A>T) | |
1 | g.17004758T>C | CA416071272 | ATP13A2 | c.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 |
1 | g.17004758T>G | CA416071264 | ATP13A2 | c.411A>C (p.Val137=) c.145A>C c.388A>C c.337A>C c.123A>C (p.Val41=) c.-436A>C (n.-436A>C) | |
1 | g.17004759A= | CA1156072515 | ATP13A2 | c.410T= (p.Val137=) c.144T= c.387T= c.336T= c.122T= (p.Val41=) c.-437T= (n.-437T=) | |
1 | g.17004759A>C | CA338263303 | ATP13A2 | c.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 |
1 | g.17004759A>G | CA338263307 | ATP13A2 | c.410T>C (p.Val137Ala) c.144T>C c.387T>C c.336T>C c.122T>C (p.Val41Ala) c.-437T>C (n.-437T>C) | |
1 | g.17004759A>T | CA338263305 | ATP13A2 | c.410T>A (p.Val137Glu) c.144T>A c.387T>A c.336T>A c.122T>A (p.Val41Glu) c.-437T>A (n.-437T>A) | |
1 | g.17004759_17004760delinsAC | CA1156072517 | ATP13A2 | c.409_410delinsGT (p.Val137=) c.143_144delinsGT c.386_387delinsGT c.335_336delinsGT c.121_122delinsGT (p.Val41=) c.-438_-437delinsGT (n.-438_-437delinsGT) | |
1 | g.17004760C>A | CA338263309 | ATP13A2 | c.409G>T (p.Val137Leu) c.143G>T c.386G>T c.335G>T c.121G>T (p.Val41Leu) c.-438G>T (n.-438G>T) | |
1 | g.17004760C>G | CA338263311 | ATP13A2 | c.409G>C (p.Val137Leu) c.143G>C c.386G>C c.335G>C c.121G>C (p.Val41Leu) c.-438G>C (n.-438G>C) | |
1 | g.17004760C>T | CA338263314 | ATP13A2 | c.409G>A (p.Val137Ile) c.143G>A c.386G>A c.335G>A c.121G>A (p.Val41Ile) c.-438G>A (n.-438G>A) | |
1 | g.17004761del | CA916082003 | ATP13A2 | c.409del (p.Val137TyrfsTer19) c.409del (p.Val137TyrfsTer?) c.143del c.386del c.335del c.121del (p.Val41TyrfsTer19) c.-438del (n.-438del) | ClinVar dbSNP |
1 | g.17004761C>A | CA416071294 | ATP13A2 | c.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 |
1 | g.17004761C= | CA1143758080 | ATP13A2 | c.408G= (p.Ala136=) c.142G= c.385G= c.334G= c.120G= (p.Ala40=) c.-439G= (n.-439G=) | |
1 | g.17004761C>G | CA416071297 | ATP13A2 | c.408G>C (p.Ala136=) c.142G>C c.385G>C c.334G>C c.120G>C (p.Ala40=) c.-439G>C (n.-439G>C) | |
1 | g.17004761C>T | CA637651 | ATP13A2 | c.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 |
1 | g.17004762G>A | CA637652 | ATP13A2 | c.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 |
1 | g.17004762G>C | CA338263317 | ATP13A2 | c.407C>G (p.Ala136Gly) c.141C>G c.384C>G c.333C>G c.119C>G (p.Ala40Gly) c.-440C>G (n.-440C>G) | |
1 | g.17004762G= | CA1146921225 | ATP13A2 | c.407C= (p.Ala136=) c.141C= c.384C= c.333C= c.119C= (p.Ala40=) c.-440C= (n.-440C=) | |
1 | g.17004762G>T | CA338263318 | ATP13A2 | c.407C>A (p.Ala136Glu) c.141C>A c.384C>A c.333C>A c.119C>A (p.Ala40Glu) c.-440C>A (n.-440C>A) | |
1 | g.17004763C>A | CA338263321 | ATP13A2 | c.406G>T (p.Ala136Ser) c.140G>T c.383G>T c.332G>T c.118G>T (p.Ala40Ser) c.-441G>T (n.-441G>T) | |
1 | g.17004763C>G | CA338263324 | ATP13A2 | c.406G>C (p.Ala136Pro) c.140G>C c.383G>C c.332G>C c.118G>C (p.Ala40Pro) c.-441G>C (n.-441G>C) | |
1 | g.17004763C>T | CA338263326 | ATP13A2 | c.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 |
1 | g.17004764C>A | CA416071308 | ATP13A2 | c.405G>T (p.Gly135=) c.139G>T c.382G>T c.331G>T c.117G>T (p.Gly39=) c.-442G>T (n.-442G>T) | |
1 | g.17004764C>G | CA416071311 | ATP13A2 | c.405G>C (p.Gly135=) c.139G>C c.382G>C c.331G>C c.117G>C (p.Gly39=) c.-442G>C (n.-442G>C) | |
1 | g.17004764C>T | CA416071314 | ATP13A2 | c.405G>A (p.Gly135=) c.139G>A c.382G>A c.331G>A c.117G>A (p.Gly39=) c.-442G>A (n.-442G>A) | |
1 | g.17004765C>A | CA338263336 | ATP13A2 | c.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 |
1 | g.17004765C= | CA1156072529 | ATP13A2 | c.404G= (p.Gly135=) c.138G= c.381G= c.330G= c.116G= (p.Gly39=) c.-443G= (n.-443G=) | |
1 | g.17004765C>G | CA338263334 | ATP13A2 | c.404G>C (p.Gly135Ala) c.138G>C c.381G>C c.330G>C c.116G>C (p.Gly39Ala) c.-443G>C (n.-443G>C) | |
1 | g.17004765C>T | CA338263329 | ATP13A2 | c.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 |
1 | g.17004766C>A | CA338263338 | ATP13A2 | c.403G>T (p.Gly135Trp) c.137G>T c.380G>T c.329G>T c.115G>T (p.Gly39Trp) c.-444G>T (n.-444G>T) | |
1 | g.17004766C>G | CA338263342 | ATP13A2 | c.403G>C (p.Gly135Arg) c.137G>C c.380G>C c.329G>C c.115G>C (p.Gly39Arg) c.-444G>C (n.-444G>C) | |
1 | g.17004766C>T | CA338263341 | ATP13A2 | c.403G>A (p.Gly135Arg) c.137G>A c.380G>A c.329G>A c.115G>A (p.Gly39Arg) c.-444G>A (n.-444G>A) | |
1 | g.17004767A>C | CA416071326 | ATP13A2 | c.402T>G (p.Val134=) c.136T>G c.379T>G c.328T>G c.114T>G (p.Val38=) c.-445T>G (n.-445T>G) | |
1 | g.17004767A>G | CA416071328 | ATP13A2 | c.402T>C (p.Val134=) c.136T>C c.379T>C c.328T>C c.114T>C (p.Val38=) c.-445T>C (n.-445T>C) | |
1 | g.17004767A>T | CA416071331 | ATP13A2 | c.402T>A (p.Val134=) c.136T>A c.379T>A c.328T>A c.114T>A (p.Val38=) c.-445T>A (n.-445T>A) | |
1 | g.17004768A>C | CA338263344 | ATP13A2 | c.401T>G (p.Val134Gly) c.135T>G c.378T>G c.327T>G c.113T>G (p.Val38Gly) c.-446T>G (n.-446T>G) | |
1 | g.17004768A>G | CA338263349 | ATP13A2 | c.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 |
1 | g.17004768A>T | CA338263347 | ATP13A2 | c.401T>A (p.Val134Asp) c.135T>A c.378T>A c.327T>A c.113T>A (p.Val38Asp) c.-446T>A (n.-446T>A) | |
1 | g.17004769C>A | CA338263352 | ATP13A2 | c.400G>T (p.Val134Phe) c.134G>T c.377G>T c.326G>T c.112G>T (p.Val38Phe) c.-447G>T (n.-447G>T) | |
1 | g.17004769C>G | CA338263357 | ATP13A2 | c.400G>C (p.Val134Leu) c.134G>C c.377G>C c.326G>C c.112G>C (p.Val38Leu) c.-447G>C (n.-447G>C) | |
1 | g.17004769C>T | CA338263354 | ATP13A2 | c.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 |
1 | g.17004770T>A | CA416071353 | ATP13A2 | c.399A>T (p.Ala133=) c.133A>T c.376A>T c.325A>T c.111A>T (p.Ala37=) c.-448A>T (n.-448A>T) | |
1 | g.17004770T>C | CA416071356 | ATP13A2 | c.399A>G (p.Ala133=) c.133A>G c.376A>G c.325A>G c.111A>G (p.Ala37=) c.-448A>G (n.-448A>G) | |
1 | g.17004770T>G | CA416071357 | ATP13A2 | c.399A>C (p.Ala133=) c.133A>C c.376A>C c.325A>C c.111A>C (p.Ala37=) c.-448A>C (n.-448A>C) | |
1 | g.17004771G>A | CA338263360 | ATP13A2 | c.398C>T (p.Ala133Val) c.132C>T c.375C>T c.324C>T c.110C>T (p.Ala37Val) c.-449C>T (n.-449C>T) | |
1 | g.17004771G>C | CA338263363 | ATP13A2 | c.398C>G (p.Ala133Gly) c.132C>G c.375C>G c.324C>G c.110C>G (p.Ala37Gly) c.-449C>G (n.-449C>G) | |
1 | g.17004771G>T | CA338263366 | ATP13A2 | c.398C>A (p.Ala133Glu) c.132C>A c.375C>A c.324C>A c.110C>A (p.Ala37Glu) c.-449C>A (n.-449C>A) | |
1 | g.17004772C>A | CA338263368 | ATP13A2 | c.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 |
1 | g.17004772C>G | CA338263370 | ATP13A2 | c.397G>C (p.Ala133Pro) c.131G>C c.374G>C c.323G>C c.109G>C (p.Ala37Pro) c.-450G>C (n.-450G>C) | |
1 | g.17004772C>T | CA338263372 | ATP13A2 | c.397G>A (p.Ala133Thr) c.131G>A c.374G>A c.323G>A c.109G>A (p.Ala37Thr) c.-450G>A (n.-450G>A) | |
1 | g.17004773C>A | CA416071367 | ATP13A2 | c.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 |
1 | g.17004773C= | CA1141754283 | ATP13A2 | c.396G= (p.Ala132=) c.130G= c.373G= c.322G= c.108G= (p.Ala36=) c.-451G= (n.-451G=) | |
1 | g.17004773C>G | CA416071368 | ATP13A2 | c.396G>C (p.Ala132=) c.130G>C c.373G>C c.322G>C c.108G>C (p.Ala36=) c.-451G>C (n.-451G>C) | |
1 | g.17004773C>T | CA637653 | ATP13A2 | c.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 |
1 | g.17004774G>A | CA18646263 | ATP13A2 | c.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 |
1 | g.17004774G>C | CA338263379 | ATP13A2 | c.395C>G (p.Ala132Gly) c.129C>G c.372C>G c.321C>G c.107C>G (p.Ala36Gly) c.-452C>G (n.-452C>G) | |
1 | g.17004774G= | CA1156072534 | ATP13A2 | c.395C= (p.Ala132=) c.129C= c.372C= c.321C= c.107C= (p.Ala36=) c.-452C= (n.-452C=) | |
1 | g.17004774G>T | CA338263382 | ATP13A2 | c.395C>A (p.Ala132Glu) c.129C>A c.372C>A c.321C>A c.107C>A (p.Ala36Glu) c.-452C>A (n.-452C>A) | |
1 | g.17004775C>A | CA338263387 | ATP13A2 | c.394G>T (p.Ala132Ser) c.128G>T c.371G>T c.320G>T c.106G>T (p.Ala36Ser) c.-453G>T (n.-453G>T) | |
1 | g.17004775C= | CA1143449726 | ATP13A2 | c.394G= (p.Ala132=) c.128G= c.371G= c.320G= c.106G= (p.Ala36=) c.-453G= (n.-453G=) | |
1 | g.17004775C>G | CA338263385 | ATP13A2 | c.394G>C (p.Ala132Pro) c.128G>C c.371G>C c.320G>C c.106G>C (p.Ala36Pro) c.-453G>C (n.-453G>C) | |
1 | g.17004775C>T | CA637654 | ATP13A2 | c.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 |
1 | g.17004776C>A | CA338263389 | ATP13A2 | c.393G>T (p.Gln131His) c.127G>T c.370G>T c.319G>T c.105G>T (p.Gln35His) c.-454G>T (n.-454G>T) | |
1 | g.17004776C= | CA1156072541 | ATP13A2 | c.393G= (p.Gln131=) c.127G= c.370G= c.319G= c.105G= (p.Gln35=) c.-454G= (n.-454G=) | |
1 | g.17004776C>G | CA338263392 | ATP13A2 | c.393G>C (p.Gln131His) c.127G>C c.370G>C c.319G>C c.105G>C (p.Gln35His) c.-454G>C (n.-454G>C) | |
1 | g.17004776C>T | CA416071390 | ATP13A2 | c.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 |
1 | g.17004777T>A | CA338263396 | ATP13A2 | c.392A>T (p.Gln131Leu) c.126A>T c.369A>T c.318A>T c.104A>T (p.Gln35Leu) c.-455A>T (n.-455A>T) | |
1 | g.17004777T>C | CA338263398 | ATP13A2 | c.392A>G (p.Gln131Arg) c.126A>G c.369A>G c.318A>G c.104A>G (p.Gln35Arg) c.-455A>G (n.-455A>G) | gnomAD v4 |
1 | g.17004777T>G | CA338263399 | ATP13A2 | c.392A>C (p.Gln131Pro) c.126A>C c.369A>C c.318A>C c.104A>C (p.Gln35Pro) c.-455A>C (n.-455A>C) | |
1 | g.17004778G>A | CA338263402 | ATP13A2 | c.391C>T (p.Gln131Ter) c.125C>T c.368C>T c.317C>T c.103C>T (p.Gln35Ter) c.-456C>T (n.-456C>T) | |
1 | g.17004778G>C | CA338263404 | ATP13A2 | c.391C>G (p.Gln131Glu) c.125C>G c.368C>G c.317C>G c.103C>G (p.Gln35Glu) c.-456C>G (n.-456C>G) | |
1 | g.17004778G>T | CA338263405 | ATP13A2 | c.391C>A (p.Gln131Lys) c.125C>A c.368C>A c.317C>A c.103C>A (p.Gln35Lys) c.-456C>A (n.-456C>A) | |
1 | g.17004779G>A | CA416071415 | ATP13A2 | c.390C>T (p.Ser130=) c.124C>T c.367C>T c.316C>T c.102C>T (p.Ser34=) c.-457C>T (n.-457C>T) | |
1 | g.17004779G>C | CA338263407 | ATP13A2 | c.390C>G (p.Ser130Arg) c.124C>G c.367C>G c.316C>G c.102C>G (p.Ser34Arg) c.-457C>G (n.-457C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17004779G= | CA1156072544 | ATP13A2 | c.390C= (p.Ser130=) c.124C= c.367C= c.316C= c.102C= (p.Ser34=) c.-457C= (n.-457C=) | |
1 | g.17004779G>T | CA338263408 | ATP13A2 | c.390C>A (p.Ser130Arg) c.124C>A c.367C>A c.316C>A c.102C>A (p.Ser34Arg) c.-457C>A (n.-457C>A) | |
1 | g.17004780C>A | CA338263412 | ATP13A2 | c.389G>T (p.Ser130Ile) c.123G>T c.366G>T c.315G>T c.101G>T (p.Ser34Ile) c.-458G>T (n.-458G>T) | |
1 | g.17004780C>G | CA338263414 | ATP13A2 | c.389G>C (p.Ser130Thr) c.123G>C c.366G>C c.315G>C c.101G>C (p.Ser34Thr) c.-458G>C (n.-458G>C) | |
1 | g.17004780C>T | CA338263411 | ATP13A2 | c.389G>A (p.Ser130Asn) c.123G>A c.366G>A c.315G>A c.101G>A (p.Ser34Asn) c.-458G>A (n.-458G>A) | |
1 | g.17004781T>A | CA338263416 | ATP13A2 | c.388A>T (p.Ser130Cys) c.122A>T c.365A>T c.314A>T c.100A>T (p.Ser34Cys) c.-459A>T (n.-459A>T) | |
1 | g.17004781T>C | CA338263419 | ATP13A2 | c.388A>G (p.Ser130Gly) c.122A>G c.365A>G c.314A>G c.100A>G (p.Ser34Gly) c.-459A>G (n.-459A>G) | gnomAD v4 |
1 | g.17004781T>G | CA338263421 | ATP13A2 | c.388A>C (p.Ser130Arg) c.122A>C c.365A>C c.314A>C c.100A>C (p.Ser34Arg) c.-459A>C (n.-459A>C) | |
1 | g.17004782C>A | CA416071453 | ATP13A2 | c.387G>T (p.Arg129=) c.121G>T c.364G>T c.313G>T c.99G>T (p.Arg33=) c.-460G>T (n.-460G>T) | COSMIC COSMIC |
1 | g.17004782C>G | CA416071454 | ATP13A2 | c.387G>C (p.Arg129=) c.121G>C c.364G>C c.313G>C c.99G>C (p.Arg33=) c.-460G>C (n.-460G>C) | gnomAD v4 |
1 | g.17004782C>T | CA416071456 | ATP13A2 | c.387G>A (p.Arg129=) c.121G>A c.364G>A c.313G>A c.99G>A (p.Arg33=) c.-460G>A (n.-460G>A) | |
1 | g.17004783C>A | CA338263423 | ATP13A2 | c.386G>T (p.Arg129Leu) c.120G>T c.363G>T c.312G>T c.98G>T (p.Arg33Leu) c.-461G>T (n.-461G>T) | |
1 | g.17004783C= | CA1156072556 | ATP13A2 | c.386G= (p.Arg129=) c.120G= c.363G= c.312G= c.98G= (p.Arg33=) c.-461G= (n.-461G=) | |
1 | g.17004783C>G | CA338263425 | ATP13A2 | c.386G>C (p.Arg129Pro) c.120G>C c.363G>C c.312G>C c.98G>C (p.Arg33Pro) c.-461G>C (n.-461G>C) | |
1 | g.17004783C>T | CA637655 | ATP13A2 | c.386G>A (p.Arg129Gln) c.120G>A c.363G>A c.312G>A c.98G>A (p.Arg33Gln) c.-461G>A (n.-461G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17004784G>A | CA338263429 | ATP13A2 | c.385C>T (p.Arg129Trp) c.119C>T c.362C>T c.311C>T c.97C>T (p.Arg33Trp) c.-462C>T (n.-462C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17004784G>C | CA338263432 | ATP13A2 | c.385C>G (p.Arg129Gly) c.119C>G c.362C>G c.311C>G c.97C>G (p.Arg33Gly) c.-462C>G (n.-462C>G) | gnomAD v4 |
1 | g.17004784G= | CA1156072557 | ATP13A2 | c.385C= (p.Arg129=) c.119C= c.362C= c.311C= c.97C= (p.Arg33=) c.-462C= (n.-462C=) | |
1 | g.17004784G>T | CA416071461 | ATP13A2 | c.385C>A (p.Arg129=) c.119C>A c.362C>A c.311C>A c.97C>A (p.Arg33=) c.-462C>A (n.-462C>A) | |
1 | g.17004785G>A | CA416071465 | ATP13A2 | c.384C>T (p.Gly128=) c.118C>T c.361C>T c.310C>T c.96C>T (p.Gly32=) c.-463C>T (n.-463C>T) | |
1 | g.17004785G>C | CA416071468 | ATP13A2 | c.384C>G (p.Gly128=) c.118C>G c.361C>G c.310C>G c.96C>G (p.Gly32=) c.-463C>G (n.-463C>G) | |
1 | g.17004785G>T | CA416071469 | ATP13A2 | c.384C>A (p.Gly128=) c.118C>A c.361C>A c.310C>A c.96C>A (p.Gly32=) c.-463C>A (n.-463C>A) | |
1 | g.17004786C>A | CA338263439 | ATP13A2 | c.383G>T (p.Gly128Val) c.117G>T c.360G>T c.309G>T c.95G>T (p.Gly32Val) c.-464G>T (n.-464G>T) | |
1 | g.17004786C>G | CA338263442 | ATP13A2 | c.383G>C (p.Gly128Ala) c.117G>C c.360G>C c.309G>C c.95G>C (p.Gly32Ala) c.-464G>C (n.-464G>C) | |
1 | g.17004786C>T | CA338263444 | ATP13A2 | c.383G>A (p.Gly128Asp) c.117G>A c.360G>A c.309G>A c.95G>A (p.Gly32Asp) c.-464G>A (n.-464G>A) | |
1 | g.17004787C>A | CA338263454 | ATP13A2 | c.382G>T (p.Gly128Cys) c.116G>T c.359G>T c.308G>T c.94G>T (p.Gly32Cys) c.-465G>T (n.-465G>T) | |
1 | g.17004787C>G | CA338263453 | ATP13A2 | c.382G>C (p.Gly128Arg) c.116G>C c.359G>C c.308G>C c.94G>C (p.Gly32Arg) c.-465G>C (n.-465G>C) | |
1 | g.17004787C>T | CA338263451 | ATP13A2 | c.382G>A (p.Gly128Ser) c.116G>A c.359G>A c.308G>A c.94G>A (p.Gly32Ser) c.-465G>A (n.-465G>A) | |
1 | g.17004788A>C | CA338263456 | ATP13A2 | c.381T>G (p.Asp127Glu) c.115T>G c.358T>G c.307T>G c.93T>G (p.Asp31Glu) c.-466T>G (n.-466T>G) | |
1 | g.17004788A>G | CA416071511 | ATP13A2 | c.381T>C (p.Asp127=) c.115T>C c.358T>C c.307T>C c.93T>C (p.Asp31=) c.-466T>C (n.-466T>C) | |
1 | g.17004788A>T | CA338263458 | ATP13A2 | c.381T>A (p.Asp127Glu) c.115T>A c.358T>A c.307T>A c.93T>A (p.Asp31Glu) c.-466T>A (n.-466T>A) | |
1 | g.17004789T>A | CA338263462 | ATP13A2 | c.380A>T (p.Asp127Val) c.114A>T c.357A>T c.306A>T c.92A>T (p.Asp31Val) c.-467A>T (n.-467A>T) | |
1 | g.17004789T>C | CA338263465 | ATP13A2 | c.380A>G (p.Asp127Gly) c.114A>G c.357A>G c.306A>G c.92A>G (p.Asp31Gly) c.-467A>G (n.-467A>G) | |
1 | g.17004789T>G | CA338263468 | ATP13A2 | c.380A>C (p.Asp127Ala) c.114A>C c.357A>C c.306A>C c.92A>C (p.Asp31Ala) c.-467A>C (n.-467A>C) | |
1 | g.17004789_17004790delinsTC | CA1156072558 | ATP13A2 | c.379_380delinsGA (p.Asp127=) c.113_114delinsGA c.356_357delinsGA c.305_306delinsGA c.91_92delinsGA (p.Asp31=) c.-468_-467delinsGA (n.-468_-467delinsGA) | |
1 | g.17004790C>A | CA338263470 | ATP13A2 | c.379G>T (p.Asp127Tyr) c.113G>T c.356G>T c.305G>T c.91G>T (p.Asp31Tyr) c.-468G>T (n.-468G>T) | |
1 | g.17004790C>G | CA338263471 | ATP13A2 | c.379G>C (p.Asp127His) c.113G>C c.356G>C c.305G>C c.91G>C (p.Asp31His) c.-468G>C (n.-468G>C) | |
1 | g.17004790C>T | CA338263472 | ATP13A2 | c.379G>A (p.Asp127Asn) c.113G>A c.356G>A c.305G>A c.91G>A (p.Asp31Asn) c.-468G>A (n.-468G>A) | |
1 | g.17004791del | CA521449955 | ATP13A2 | c.379del (p.Asp127MetfsTer29) c.379del (p.Asp127MetfsTer?) c.113del c.356del c.305del c.91del (p.Asp31MetfsTer29) c.-468del (n.-468del) | dbSNP gnomAD v2 gnomAD v4 |