| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) |