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