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