Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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 |
1 | g.17004791C>A | CA338263473 | ATP13A2 | c.378G>T (p.Glu126Asp) c.112G>T c.355G>T c.304G>T c.90G>T (p.Glu30Asp) c.-469G>T (n.-469G>T) | |
1 | g.17004791C= | CA1156072559 | ATP13A2 | c.378G= (p.Glu126=) c.112G= c.355G= c.304G= c.90G= (p.Glu30=) c.-469G= (n.-469G=) | |
1 | g.17004791C>G | CA637656 | ATP13A2 | c.378G>C (p.Glu126Asp) c.112G>C c.355G>C c.304G>C c.90G>C (p.Glu30Asp) c.-469G>C (n.-469G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.17004791C>T | CA416071532 | ATP13A2 | c.378G>A (p.Glu126=) c.112G>A c.355G>A c.304G>A c.90G>A (p.Glu30=) c.-469G>A (n.-469G>A) | |
1 | g.17004792T>A | CA338263474 | ATP13A2 | c.377A>T (p.Glu126Val) c.111A>T c.354A>T c.303A>T c.89A>T (p.Glu30Val) c.-470A>T (n.-470A>T) | |
1 | g.17004792T>C | CA338263476 | ATP13A2 | c.377A>G (p.Glu126Gly) c.111A>G c.354A>G c.303A>G c.89A>G (p.Glu30Gly) c.-470A>G (n.-470A>G) | gnomAD v4 |
1 | g.17004792T>G | CA338263478 | ATP13A2 | c.377A>C (p.Glu126Ala) c.111A>C c.354A>C c.303A>C c.89A>C (p.Glu30Ala) c.-470A>C (n.-470A>C) | |
1 | g.17004793C>A | CA338263482 | ATP13A2 | c.376G>T (p.Glu126Ter) c.110G>T c.353G>T c.302G>T c.88G>T (p.Glu30Ter) c.-471G>T (n.-471G>T) | |
1 | g.17004793C>G | CA338263483 | ATP13A2 | c.376G>C (p.Glu126Gln) c.110G>C c.353G>C c.302G>C c.88G>C (p.Glu30Gln) c.-471G>C (n.-471G>C) | |
1 | g.17004793C>T | CA338263480 | ATP13A2 | c.376G>A (p.Glu126Lys) c.110G>A c.353G>A c.302G>A c.88G>A (p.Glu30Lys) c.-471G>A (n.-471G>A) | |
1 | g.17004794T>A | CA416071548 | ATP13A2 | c.375A>T (p.Ala125=) c.109A>T c.352A>T c.301A>T c.87A>T (p.Ala29=) c.-472A>T (n.-472A>T) | |
1 | g.17004794T>C | CA416071544 | ATP13A2 | c.375A>G (p.Ala125=) c.109A>G c.352A>G c.301A>G c.87A>G (p.Ala29=) c.-472A>G (n.-472A>G) | |
1 | g.17004794T>G | CA416071545 | ATP13A2 | c.375A>C (p.Ala125=) c.109A>C c.352A>C c.301A>C c.87A>C (p.Ala29=) c.-472A>C (n.-472A>C) | |
1 | g.17004795G>A | CA338263485 | ATP13A2 | c.374C>T (p.Ala125Val) c.108C>T c.351C>T c.300C>T c.86C>T (p.Ala29Val) c.-473C>T (n.-473C>T) | |
1 | g.17004795G>C | CA18646294 | ATP13A2 | c.374C>G (p.Ala125Gly) c.108C>G c.351C>G c.300C>G c.86C>G (p.Ala29Gly) c.-473C>G (n.-473C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.17004795G= | CA1156072561 | ATP13A2 | c.374C= (p.Ala125=) c.108C= c.351C= c.300C= c.86C= (p.Ala29=) c.-473C= (n.-473C=) | |
1 | g.17004795G>T | CA338263486 | ATP13A2 | c.374C>A (p.Ala125Glu) c.108C>A c.351C>A c.300C>A c.86C>A (p.Ala29Glu) c.-473C>A (n.-473C>A) | ClinVar |
1 | g.17004796C>A | CA338263489 | ATP13A2 | c.373G>T (p.Ala125Ser) c.107G>T c.350G>T c.299G>T c.85G>T (p.Ala29Ser) c.-474G>T (n.-474G>T) | |
1 | g.17004796C= | CA1156072565 | ATP13A2 | c.373G= (p.Ala125=) c.107G= c.350G= c.299G= c.85G= (p.Ala29=) c.-474G= (n.-474G=) | |
1 | g.17004796C>G | CA338263491 | ATP13A2 | c.373G>C (p.Ala125Pro) c.107G>C c.350G>C c.299G>C c.85G>C (p.Ala29Pro) c.-474G>C (n.-474G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.17004796C>T | CA338263493 | ATP13A2 | c.373G>A (p.Ala125Thr) c.107G>A c.350G>A c.299G>A c.85G>A (p.Ala29Thr) c.-474G>A (n.-474G>A) | |
1 | g.17004797C>A | CA338263495 | ATP13A2 | c.372G>T (p.Gln124His) c.106G>T c.349G>T c.298G>T c.84G>T (p.Gln28His) c.-475G>T (n.-475G>T) | |
1 | g.17004797C= | CA1156072567 | ATP13A2 | c.372G= (p.Gln124=) c.106G= c.349G= c.298G= c.84G= (p.Gln28=) c.-475G= (n.-475G=) | |
1 | g.17004797C>G | CA338263498 | ATP13A2 | c.372G>C (p.Gln124His) c.106G>C c.349G>C c.298G>C c.84G>C (p.Gln28His) c.-475G>C (n.-475G>C) | |
1 | g.17004797C>T | CA637657 | ATP13A2 | c.372G>A (p.Gln124=) c.106G>A c.349G>A c.298G>A c.84G>A (p.Gln28=) c.-475G>A (n.-475G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.17004798T>A | CA338263503 | ATP13A2 | c.371A>T (p.Gln124Leu) c.105A>T c.348A>T c.297A>T c.83A>T (p.Gln28Leu) c.-476A>T (n.-476A>T) | |
1 | g.17004798T>C | CA338263508 | ATP13A2 | c.371A>G (p.Gln124Arg) c.105A>G c.348A>G c.297A>G c.83A>G (p.Gln28Arg) c.-476A>G (n.-476A>G) | |
1 | g.17004798T>G | CA338263510 | ATP13A2 | c.371A>C (p.Gln124Pro) c.105A>C c.348A>C c.297A>C c.83A>C (p.Gln28Pro) c.-476A>C (n.-476A>C) | |
1 | g.17004798T= | CA1156072569 | ATP13A2 | c.371A= (p.Gln124=) c.105A= c.348A= c.297A= c.83A= (p.Gln28=) c.-476A= (n.-476A=) | |
1 | g.17004799G>A | CA338263517 | ATP13A2 | c.370C>T (p.Gln124Ter) c.104C>T c.347C>T c.296C>T c.82C>T (p.Gln28Ter) c.-477C>T (n.-477C>T) | |
1 | g.17004799G>C | CA338263514 | ATP13A2 | c.370C>G (p.Gln124Glu) c.104C>G c.347C>G c.296C>G c.82C>G (p.Gln28Glu) c.-477C>G (n.-477C>G) | |
1 | g.17004799G>T | CA338263512 | ATP13A2 | c.370C>A (p.Gln124Lys) c.104C>A c.347C>A c.296C>A c.82C>A (p.Gln28Lys) c.-477C>A (n.-477C>A) | |
1 | g.17004801dup | CA521449958 | ATP13A2 | c.370dup (p.Gln124ProfsTer?) c.104dup c.347dup c.296dup c.82dup (p.Gln28ProfsTer?) c.-477dup (n.-477dup) | dbSNP gnomAD v2 |
1 | g.17004800G>A | CA416071585 | ATP13A2 | c.369C>T (p.Ser123=) c.103C>T c.346C>T c.295C>T c.81C>T (p.Ser27=) c.-478C>T (n.-478C>T) | |
1 | g.17004800G>C | CA416071587 | ATP13A2 | c.369C>G (p.Ser123=) c.103C>G c.346C>G c.295C>G c.81C>G (p.Ser27=) c.-478C>G (n.-478C>G) | |
1 | g.17004800G>T | CA416071589 | ATP13A2 | c.369C>A (p.Ser123=) c.103C>A c.346C>A c.295C>A c.81C>A (p.Ser27=) c.-478C>A (n.-478C>A) | |
1 | g.17004801G>A | CA338263520 | ATP13A2 | c.368C>T (p.Ser123Phe) c.102C>T c.345C>T c.294C>T c.80C>T (p.Ser27Phe) c.-479C>T (n.-479C>T) | COSMIC COSMIC |
1 | g.17004801G>C | CA338263522 | ATP13A2 | c.368C>G (p.Ser123Cys) c.102C>G c.345C>G c.294C>G c.80C>G (p.Ser27Cys) c.-479C>G (n.-479C>G) | |
1 | g.17004801G= | CA1148229181 | ATP13A2 | c.368C= (p.Ser123=) c.102C= c.345C= c.294C= c.80C= (p.Ser27=) c.-479C= (n.-479C=) | |
1 | g.17004801G>T | CA637658 | ATP13A2 | c.368C>A (p.Ser123Tyr) c.102C>A c.345C>A c.294C>A c.80C>A (p.Ser27Tyr) c.-479C>A (n.-479C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17004802A>C | CA338263529 | ATP13A2 | c.367T>G (p.Ser123Ala) c.101T>G c.344T>G c.293T>G c.79T>G (p.Ser27Ala) c.-480T>G (n.-480T>G) | dbSNP |
1 | g.17004802A>G | CA338263531 | ATP13A2 | c.367T>C (p.Ser123Pro) c.101T>C c.344T>C c.293T>C c.79T>C (p.Ser27Pro) c.-480T>C (n.-480T>C) | |
1 | g.17004802A>T | CA338263533 | ATP13A2 | c.367T>A (p.Ser123Thr) c.101T>A c.344T>A c.293T>A c.79T>A (p.Ser27Thr) c.-480T>A (n.-480T>A) | |
1 | g.17004803C>A | CA338263536 | ATP13A2 | c.366G>T (p.Gln122His) c.100G>T c.343G>T c.292G>T c.78G>T (p.Gln26His) c.-481G>T (n.-481G>T) | COSMIC COSMIC |
1 | g.17004803C>G | CA338263539 | ATP13A2 | c.366G>C (p.Gln122His) c.100G>C c.343G>C c.292G>C c.78G>C (p.Gln26His) c.-481G>C (n.-481G>C) | |
1 | g.17004803C>T | CA416071624 | ATP13A2 | c.366G>A (p.Gln122=) c.100G>A c.343G>A c.292G>A c.78G>A (p.Gln26=) c.-481G>A (n.-481G>A) | gnomAD v4 |
1 | g.17004804T>A | CA338263541 | ATP13A2 | c.365A>T (p.Gln122Leu) c.99A>T c.342A>T c.291A>T c.77A>T (p.Gln26Leu) c.-482A>T (n.-482A>T) | |
1 | g.17004804T>C | CA338263543 | ATP13A2 | c.365A>G (p.Gln122Arg) c.99A>G c.342A>G c.291A>G c.77A>G (p.Gln26Arg) c.-482A>G (n.-482A>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.17004804T>G | CA338263546 | ATP13A2 | c.365A>C (p.Gln122Pro) c.99A>C c.342A>C c.291A>C c.77A>C (p.Gln26Pro) c.-482A>C (n.-482A>C) | |
1 | g.17004804T= | CA1156072575 | ATP13A2 | c.365A= (p.Gln122=) c.99A= c.342A= c.291A= c.77A= (p.Gln26=) c.-482A= (n.-482A=) | |
1 | g.17004805G>A | CA16043960 | ATP13A2 | c.364C>T (p.Gln122Ter) c.98C>T c.341C>T c.290C>T c.76C>T (p.Gln26Ter) c.-483C>T (n.-483C>T) | ClinVar dbSNP |
1 | g.17004805G>C | CA338263557 | ATP13A2 | c.364C>G (p.Gln122Glu) c.98C>G c.341C>G c.290C>G c.76C>G (p.Gln26Glu) c.-483C>G (n.-483C>G) | |
1 | g.17004805G= | CA1156072579 | ATP13A2 | c.364C= (p.Gln122=) c.98C= c.341C= c.290C= c.76C= (p.Gln26=) c.-483C= (n.-483C=) | |
1 | g.17004805G>T | CA338263559 | ATP13A2 | c.364C>A (p.Gln122Lys) c.98C>A c.341C>A c.290C>A c.76C>A (p.Gln26Lys) c.-483C>A (n.-483C>A) | gnomAD v4 |
1 | g.17004806T>A | CA416071661 | ATP13A2 | c.363A>T (p.Pro121=) c.97A>T c.340A>T c.289A>T c.75A>T (p.Pro25=) c.-484A>T (n.-484A>T) | |
1 | g.17004806T>C | CA416071667 | ATP13A2 | c.363A>G (p.Pro121=) c.97A>G c.340A>G c.289A>G c.75A>G (p.Pro25=) c.-484A>G (n.-484A>G) | |
1 | g.17004806T>G | CA416071665 | ATP13A2 | c.363A>C (p.Pro121=) c.97A>C c.340A>C c.289A>C c.75A>C (p.Pro25=) c.-484A>C (n.-484A>C) | |
1 | g.17004807G>A | CA338263563 | ATP13A2 | c.362C>T (p.Pro121Leu) c.96C>T c.339C>T c.288C>T c.74C>T (p.Pro25Leu) c.-485C>T (n.-485C>T) | |
1 | g.17004807G>C | CA338263565 | ATP13A2 | c.362C>G (p.Pro121Arg) c.96C>G c.339C>G c.288C>G c.74C>G (p.Pro25Arg) c.-485C>G (n.-485C>G) | |
1 | g.17004807G>T | CA338263561 | ATP13A2 | c.362C>A (p.Pro121Gln) c.96C>A c.339C>A c.288C>A c.74C>A (p.Pro25Gln) c.-485C>A (n.-485C>A) | |
1 | g.17004808G>A | CA338263566 | ATP13A2 | c.361C>T (p.Pro121Ser) c.95C>T c.338C>T c.287C>T c.73C>T (p.Pro25Ser) c.-486C>T (n.-486C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.17004808G>C | CA338263567 | ATP13A2 | c.361C>G (p.Pro121Ala) c.95C>G c.338C>G c.287C>G c.73C>G (p.Pro25Ala) c.-486C>G (n.-486C>G) | |
1 | g.17004808G= | CA1156072584 | ATP13A2 | c.361C= (p.Pro121=) c.95C= c.338C= c.287C= c.73C= (p.Pro25=) c.-486C= (n.-486C=) | |
1 | g.17004808G>T | CA338263569 | ATP13A2 | c.361C>A (p.Pro121Thr) c.95C>A c.338C>A c.287C>A c.73C>A (p.Pro25Thr) c.-486C>A (n.-486C>A) | gnomAD v4 |
1 | g.17004808_17004812delinsGGGAC | CA1156072585 | ATP13A2 | c.357_361delinsGTCCC (p.Pro119=) c.91_95delinsGTCCC c.334_338delinsGTCCC c.283_287delinsGTCCC c.69_73delinsGTCCC (p.Pro23=) c.-490_-486delinsGTCCC (n.-490_-486delinsGTCCC) | |
1 | g.17004809G>A | CA416071689 | ATP13A2 | c.360C>T (p.Ser120=) c.94C>T c.337C>T c.286C>T c.72C>T (p.Ser24=) c.-487C>T (n.-487C>T) | |
1 | g.17004809G>C | CA416071691 | ATP13A2 | c.360C>G (p.Ser120=) c.94C>G c.337C>G c.286C>G c.72C>G (p.Ser24=) c.-487C>G (n.-487C>G) | |
1 | g.17004809G>T | CA416071692 | ATP13A2 | c.360C>A (p.Ser120=) c.94C>A c.337C>A c.286C>A c.72C>A (p.Ser24=) c.-487C>A (n.-487C>A) | |
1 | g.17004811_17004814del | CA890972802 | ATP13A2 | c.357_360del (p.Ser120HisfsTer?) c.91_94del c.334_337del c.283_286del c.69_72del (p.Ser24HisfsTer?) c.-490_-487del (n.-490_-487del) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.17004810G>A | CA338263573 | ATP13A2 | c.359C>T (p.Ser120Phe) c.93C>T c.336C>T c.285C>T c.71C>T (p.Ser24Phe) c.-488C>T (n.-488C>T) | |
1 | g.17004810G>C | CA338263574 | ATP13A2 | c.359C>G (p.Ser120Cys) c.93C>G c.336C>G c.285C>G c.71C>G (p.Ser24Cys) c.-488C>G (n.-488C>G) | |
1 | g.17004810G>T | CA338263576 | ATP13A2 | c.359C>A (p.Ser120Tyr) c.93C>A c.336C>A c.285C>A c.71C>A (p.Ser24Tyr) c.-488C>A (n.-488C>A) | |
1 | g.17004811A= | CA1156072589 | ATP13A2 | c.358T= (p.Ser120=) c.92T= c.335T= c.284T= c.70T= (p.Ser24=) c.-489T= (n.-489T=) | |
1 | g.17004811A>C | CA338263579 | ATP13A2 | c.358T>G (p.Ser120Ala) c.92T>G c.335T>G c.284T>G c.70T>G (p.Ser24Ala) c.-489T>G (n.-489T>G) | |
1 | g.17004811A>G | CA338263581 | ATP13A2 | c.358T>C (p.Ser120Pro) c.92T>C c.335T>C c.284T>C c.70T>C (p.Ser24Pro) c.-489T>C (n.-489T>C) | dbSNP gnomAD v4 |
1 | g.17004811A>T | CA338263582 | ATP13A2 | c.358T>A (p.Ser120Thr) c.92T>A c.335T>A c.284T>A c.70T>A (p.Ser24Thr) c.-489T>A (n.-489T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17004812C>A | CA416071706 | ATP13A2 | c.357G>T (p.Pro119=) c.91G>T c.334G>T c.283G>T c.69G>T (p.Pro23=) c.-490G>T (n.-490G>T) | COSMIC COSMIC |
1 | g.17004812C= | CA1141825754 | ATP13A2 | c.357G= (p.Pro119=) c.91G= c.334G= c.283G= c.69G= (p.Pro23=) c.-490G= (n.-490G=) | |
1 | g.17004812C>G | CA416071707 | ATP13A2 | c.357G>C (p.Pro119=) c.91G>C c.334G>C c.283G>C c.69G>C (p.Pro23=) c.-490G>C (n.-490G>C) | |
1 | g.17004812C>T | CA637659 | ATP13A2 | c.357G>A (p.Pro119=) c.91G>A c.334G>A c.283G>A c.69G>A (p.Pro23=) c.-490G>A (n.-490G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.17004813G>A | CA637660 | ATP13A2 | c.356C>T (p.Pro119Leu) c.90C>T c.333C>T c.282C>T c.68C>T (p.Pro23Leu) c.-491C>T (n.-491C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17004813G>C | CA338263584 | ATP13A2 | c.356C>G (p.Pro119Arg) c.90C>G c.333C>G c.282C>G c.68C>G (p.Pro23Arg) c.-491C>G (n.-491C>G) | |
1 | g.17004813G= | CA1156072595 | ATP13A2 | c.356C= (p.Pro119=) c.90C= c.333C= c.282C= c.68C= (p.Pro23=) c.-491C= (n.-491C=) | |
1 | g.17004813G>T | CA338263586 | ATP13A2 | c.356C>A (p.Pro119Gln) c.90C>A c.333C>A c.282C>A c.68C>A (p.Pro23Gln) c.-491C>A (n.-491C>A) | |
1 | g.17004814G>A | CA338263596 | ATP13A2 | c.355C>T (p.Pro119Ser) c.89C>T c.332C>T c.281C>T c.67C>T (p.Pro23Ser) c.-492C>T (n.-492C>T) | gnomAD v4 |
1 | g.17004814G>C | CA338263588 | ATP13A2 | c.355C>G (p.Pro119Ala) c.89C>G c.332C>G c.281C>G c.67C>G (p.Pro23Ala) c.-492C>G (n.-492C>G) | dbSNP gnomAD v4 |
1 | g.17004814G= | CA1156072600 | ATP13A2 | c.355C= (p.Pro119=) c.89C= c.332C= c.281C= c.67C= (p.Pro23=) c.-492C= (n.-492C=) | |
1 | g.17004814G>T | CA338263590 | ATP13A2 | c.355C>A (p.Pro119Thr) c.89C>A c.332C>A c.281C>A c.67C>A (p.Pro23Thr) c.-492C>A (n.-492C>A) | |
1 | g.17004815C>A | CA338263602 | ATP13A2 | c.354G>T (p.Glu118Asp) c.88G>T c.331G>T c.280G>T c.66G>T (p.Glu22Asp) c.-493G>T (n.-493G>T) | |
1 | g.17004815C>G | CA338263605 | ATP13A2 | c.354G>C (p.Glu118Asp) c.88G>C c.331G>C c.280G>C c.66G>C (p.Glu22Asp) c.-493G>C (n.-493G>C) | |
1 | g.17004815C>T | CA416071732 | ATP13A2 | c.354G>A (p.Glu118=) c.88G>A c.331G>A c.280G>A c.66G>A (p.Glu22=) c.-493G>A (n.-493G>A) | gnomAD v4 |
1 | g.17004816T>A | CA338263607 | ATP13A2 | c.353A>T (p.Glu118Val) c.87A>T c.330A>T c.279A>T c.65A>T (p.Glu22Val) c.-494A>T (n.-494A>T) | dbSNP gnomAD v2 |
1 | g.17004816T>C | CA338263610 | ATP13A2 | c.353A>G (p.Glu118Gly) c.87A>G c.330A>G c.279A>G c.65A>G (p.Glu22Gly) c.-494A>G (n.-494A>G) | |
1 | g.17004816T>G | CA338263613 | ATP13A2 | c.353A>C (p.Glu118Ala) c.87A>C c.330A>C c.279A>C c.65A>C (p.Glu22Ala) c.-494A>C (n.-494A>C) | |
1 | g.17004816T= | CA1156072604 | ATP13A2 | c.353A= (p.Glu118=) c.87A= c.330A= c.279A= c.65A= (p.Glu22=) c.-494A= (n.-494A=) | |
1 | g.17004817C>A | CA637662 | ATP13A2 | c.352G>T (p.Glu118Ter) c.86G>T c.329G>T c.278G>T c.64G>T (p.Glu22Ter) c.-495G>T (n.-495G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17004817C= | CA1156072610 | ATP13A2 | c.352G= (p.Glu118=) c.86G= c.329G= c.278G= c.64G= (p.Glu22=) c.-495G= (n.-495G=) | |
1 | g.17004817C>G | CA338263619 | ATP13A2 | c.352G>C (p.Glu118Gln) c.86G>C c.329G>C c.278G>C c.64G>C (p.Glu22Gln) c.-495G>C (n.-495G>C) | |
1 | g.17004817C>T | CA637661 | ATP13A2 | c.352G>A (p.Glu118Lys) c.86G>A c.329G>A c.278G>A c.64G>A (p.Glu22Lys) c.-495G>A (n.-495G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17004817_17004830delinsCCAGGCTGGGGAAG | CA1156072609 | ATP13A2 | c.348-9_352delinsCTTCCCCAGCCTGG c.82-9_86delinsCTTCCCCAGCCTGG c.325-9_329delinsCTTCCCCAGCCTGG c.274-9_278delinsCTTCCCCAGCCTGG c.60-9_64delinsCTTCCCCAGCCTGG c.-499-9_-495delinsCTTCCCCAGCCTGG | |
1 | g.17004818C>A | CA416071743 | ATP13A2 | c.351G>T (p.Leu117=) c.85G>T c.328G>T c.277G>T c.63G>T (p.Leu21=) c.-496G>T (n.-496G>T) | |
1 | g.17004818C>G | CA416071745 | ATP13A2 | c.351G>C (p.Leu117=) c.85G>C c.328G>C c.277G>C c.63G>C (p.Leu21=) c.-496G>C (n.-496G>C) | |
1 | g.17004818C>T | CA416071749 | ATP13A2 | c.351G>A (p.Leu117=) c.85G>A c.328G>A c.277G>A c.63G>A (p.Leu21=) c.-496G>A (n.-496G>A) | |
1 | g.17004818_17004834delinsCAGGCTGGGGAAGCAGG | CA1149144127 | ATP13A2 | c.348-13_351delinsCCTGCTTCCCCAGCCTG c.82-13_85delinsCCTGCTTCCCCAGCCTG c.325-13_328delinsCCTGCTTCCCCAGCCTG c.274-13_277delinsCCTGCTTCCCCAGCCTG c.60-13_63delinsCCTGCTTCCCCAGCCTG c.-499-13_-496delinsCCTGCTTCCCCAGCCTG | |
1 | g.17004822_17004834del | CA276125 | ATP13A2 | c.348-9_351del c.82-9_85del c.325-9_328del c.274-9_277del c.60-9_63del c.-499-9_-496del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17004819A>C | CA338263625 | ATP13A2 | c.350T>G (p.Leu117Arg) c.84T>G c.327T>G c.276T>G c.62T>G (p.Leu21Arg) c.-497T>G (n.-497T>G) | |
1 | g.17004819A>G | CA338263627 | ATP13A2 | c.350T>C (p.Leu117Pro) c.84T>C c.327T>C c.276T>C c.62T>C (p.Leu21Pro) c.-497T>C (n.-497T>C) | |
1 | g.17004819A>T | CA338263628 | ATP13A2 | c.350T>A (p.Leu117Gln) c.84T>A c.327T>A c.276T>A c.62T>A (p.Leu21Gln) c.-497T>A (n.-497T>A) | |
1 | g.17004820G>A | CA637663 | ATP13A2 | c.349C>T (p.Leu117=) c.83C>T c.326C>T c.275C>T c.61C>T (p.Leu21=) c.-498C>T (n.-498C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.17004820G>C | CA338263631 | ATP13A2 | c.349C>G (p.Leu117Val) c.83C>G c.326C>G c.275C>G c.61C>G (p.Leu21Val) c.-498C>G (n.-498C>G) | |
1 | g.17004820G= | CA1156072621 | ATP13A2 | c.349C= (p.Leu117=) c.83C= c.326C= c.275C= c.61C= (p.Leu21=) c.-498C= (n.-498C=) | |
1 | g.17004820G>T | CA338263630 | ATP13A2 | c.349C>A (p.Leu117Met) c.83C>A c.326C>A c.275C>A c.61C>A (p.Leu21Met) c.-498C>A (n.-498C>A) | |
1 | g.17004821G>A | CA416071781 | ATP13A2 | c.348C>T (p.Ser116=) c.82C>T c.325C>T c.274C>T c.60C>T (p.Ser20=) c.-499C>T (n.-499C>T) | |
1 | g.17004821G>C | CA338263633 | ATP13A2 | c.348C>G (p.Ser116Arg) c.82C>G c.325C>G c.274C>G c.60C>G (p.Ser20Arg) c.-499C>G (n.-499C>G) | ClinVar dbSNP gnomAD v4 |
1 | g.17004821G= | CA1156072626 | ATP13A2 | c.348C= (p.Ser116=) c.82C= c.325C= c.274C= c.60C= (p.Ser20=) c.-499C= (n.-499C=) | |
1 | g.17004821G>T | CA338263632 | ATP13A2 | c.348C>A (p.Ser116Arg) c.82C>A c.325C>A c.274C>A c.60C>A (p.Ser20Arg) c.-499C>A (n.-499C>A) | |
1 | g.17004822C>A | CA338263636 | ATP13A2 | c.348-1G>T (n.348-1G>T) c.82-1G>T c.325-1G>T c.274-1G>T c.60-1G>T (n.60-1G>T) c.-499-1G>T (n.-499-1G>T) | |
1 | g.17004822C>G | CA338263635 | ATP13A2 | c.348-1G>C (n.348-1G>C) c.82-1G>C c.325-1G>C c.274-1G>C c.60-1G>C (n.60-1G>C) c.-499-1G>C (n.-499-1G>C) | |
1 | g.17004822C>T | CA338263637 | ATP13A2 | c.348-1G>A (n.348-1G>A) c.82-1G>A c.325-1G>A c.274-1G>A c.60-1G>A (n.60-1G>A) c.-499-1G>A (n.-499-1G>A) | |
1 | g.17004823T>A | CA338263638 | ATP13A2 | c.348-2A>T (n.348-2A>T) c.82-2A>T c.325-2A>T c.274-2A>T c.60-2A>T (n.60-2A>T) c.-499-2A>T (n.-499-2A>T) | |
1 | g.17004823T>C | CA338263639 | ATP13A2 | c.348-2A>G (n.348-2A>G) c.82-2A>G c.325-2A>G c.274-2A>G c.60-2A>G (n.60-2A>G) c.-499-2A>G (n.-499-2A>G) | COSMIC COSMIC |
1 | g.17004823T>G | CA338263640 | ATP13A2 | c.348-2A>C (n.348-2A>C) c.82-2A>C c.325-2A>C c.274-2A>C c.60-2A>C (n.60-2A>C) c.-499-2A>C (n.-499-2A>C) | |
1 | g.17004824G>A | CA416071820 | ATP13A2 | c.348-3C>T (n.348-3C>T) c.82-3C>T c.325-3C>T c.274-3C>T c.60-3C>T (n.60-3C>T) c.-499-3C>T (n.-499-3C>T) | |
1 | g.17004824G>C | CA416071821 | ATP13A2 | c.348-3C>G (n.348-3C>G) c.82-3C>G c.325-3C>G c.274-3C>G c.60-3C>G (n.60-3C>G) c.-499-3C>G (n.-499-3C>G) | |
1 | g.17004824G>T | CA416071823 | ATP13A2 | c.348-3C>A (n.348-3C>A) c.82-3C>A c.325-3C>A c.274-3C>A c.60-3C>A (n.60-3C>A) c.-499-3C>A (n.-499-3C>A) | |
1 | g.17004825G>A | CA416071826 | ATP13A2 | c.348-4C>T (n.348-4C>T) c.82-4C>T c.325-4C>T c.274-4C>T c.60-4C>T (n.60-4C>T) c.-499-4C>T (n.-499-4C>T) | |
1 | g.17004825G>C | CA416071827 | ATP13A2 | c.348-4C>G (n.348-4C>G) c.82-4C>G c.325-4C>G c.274-4C>G c.60-4C>G (n.60-4C>G) c.-499-4C>G (n.-499-4C>G) | |
1 | g.17004825G= | CA1156072628 | ATP13A2 | c.348-4C= (n.348-4C=) c.82-4C= c.325-4C= c.274-4C= c.60-4C= (n.60-4C=) c.-499-4C= (n.-499-4C=) | |
1 | g.17004825G>T | CA416071830 | ATP13A2 | c.348-4C>A (n.348-4C>A) c.82-4C>A c.325-4C>A c.274-4C>A c.60-4C>A (n.60-4C>A) c.-499-4C>A (n.-499-4C>A) | dbSNP |
1 | g.17004826G>A | CA416071833 | ATP13A2 | c.348-5C>T (n.348-5C>T) c.82-5C>T c.325-5C>T c.274-5C>T c.60-5C>T (n.60-5C>T) c.-499-5C>T (n.-499-5C>T) | |
1 | g.17004826G>C | CA416071835 | ATP13A2 | c.348-5C>G (n.348-5C>G) c.82-5C>G c.325-5C>G c.274-5C>G c.60-5C>G (n.60-5C>G) c.-499-5C>G (n.-499-5C>G) | |
1 | g.17004826G>T | CA416071837 | ATP13A2 | c.348-5C>A (n.348-5C>A) c.82-5C>A c.325-5C>A c.274-5C>A c.60-5C>A (n.60-5C>A) c.-499-5C>A (n.-499-5C>A) | gnomAD v4 |
1 | g.17004827G>A | CA416071841 | ATP13A2 | c.348-6C>T (n.348-6C>T) c.82-6C>T c.325-6C>T c.274-6C>T c.60-6C>T (n.60-6C>T) c.-499-6C>T (n.-499-6C>T) | |
1 | g.17004827G>C | CA416071852 | ATP13A2 | c.348-6C>G (n.348-6C>G) c.82-6C>G c.325-6C>G c.274-6C>G c.60-6C>G (n.60-6C>G) c.-499-6C>G (n.-499-6C>G) | |
1 | g.17004827G>T | CA416071849 | ATP13A2 | c.348-6C>A (n.348-6C>A) c.82-6C>A c.325-6C>A c.274-6C>A c.60-6C>A (n.60-6C>A) c.-499-6C>A (n.-499-6C>A) | |
1 | g.17004828A>C | CA416071855 | ATP13A2 | c.348-7T>G (n.348-7T>G) c.82-7T>G c.325-7T>G c.274-7T>G c.60-7T>G (n.60-7T>G) c.-499-7T>G (n.-499-7T>G) | |
1 | g.17004828A>G | CA416071858 | ATP13A2 | c.348-7T>C (n.348-7T>C) c.82-7T>C c.325-7T>C c.274-7T>C c.60-7T>C (n.60-7T>C) c.-499-7T>C (n.-499-7T>C) | |
1 | g.17004828A>T | CA416071864 | ATP13A2 | c.348-7T>A (n.348-7T>A) c.82-7T>A c.325-7T>A c.274-7T>A c.60-7T>A (n.60-7T>A) c.-499-7T>A (n.-499-7T>A) | |
1 | g.17004829A>C | CA416071866 | ATP13A2 | c.348-8T>G (n.348-8T>G) c.82-8T>G c.325-8T>G c.274-8T>G c.60-8T>G (n.60-8T>G) c.-499-8T>G (n.-499-8T>G) | |
1 | g.17004829A>G | CA416071869 | ATP13A2 | c.348-8T>C (n.348-8T>C) c.82-8T>C c.325-8T>C c.274-8T>C c.60-8T>C (n.60-8T>C) c.-499-8T>C (n.-499-8T>C) | gnomAD v4 |
1 | g.17004829A>T | CA416071871 | ATP13A2 | c.348-8T>A (n.348-8T>A) c.82-8T>A c.325-8T>A c.274-8T>A c.60-8T>A (n.60-8T>A) c.-499-8T>A (n.-499-8T>A) | |
1 | g.17004830G>A | CA416071876 | ATP13A2 | c.348-9C>T (n.348-9C>T) c.82-9C>T c.325-9C>T c.274-9C>T c.60-9C>T (n.60-9C>T) c.-499-9C>T (n.-499-9C>T) | |
1 | g.17004830G>C | CA416071879 | ATP13A2 | c.348-9C>G (n.348-9C>G) c.82-9C>G c.325-9C>G c.274-9C>G c.60-9C>G (n.60-9C>G) c.-499-9C>G (n.-499-9C>G) | |
1 | g.17004830G>T | CA416071882 | ATP13A2 | c.348-9C>A (n.348-9C>A) c.82-9C>A c.325-9C>A c.274-9C>A c.60-9C>A (n.60-9C>A) c.-499-9C>A (n.-499-9C>A) | |
1 | g.17004831C>A | CA416071883 | ATP13A2 | c.348-10G>T (n.348-10G>T) c.82-10G>T c.325-10G>T c.274-10G>T c.60-10G>T (n.60-10G>T) c.-499-10G>T (n.-499-10G>T) | |
1 | g.17004831C= | CA1156072631 | ATP13A2 | c.348-10G= (n.348-10G=) c.82-10G= c.325-10G= c.274-10G= c.60-10G= (n.60-10G=) c.-499-10G= (n.-499-10G=) | |
1 | g.17004831C>G | CA416071885 | ATP13A2 | c.348-10G>C (n.348-10G>C) c.82-10G>C c.325-10G>C c.274-10G>C c.60-10G>C (n.60-10G>C) c.-499-10G>C (n.-499-10G>C) | dbSNP |
1 | g.17004831C>T | CA416071884 | ATP13A2 | c.348-10G>A (n.348-10G>A) c.82-10G>A c.325-10G>A c.274-10G>A c.60-10G>A (n.60-10G>A) c.-499-10G>A (n.-499-10G>A) | dbSNP gnomAD v2 COSMIC COSMIC |
1 | g.17004832A>C | CA416071886 | ATP13A2 | c.348-11T>G (n.348-11T>G) c.82-11T>G c.325-11T>G c.274-11T>G c.60-11T>G (n.60-11T>G) c.-499-11T>G (n.-499-11T>G) | |
1 | g.17004832A>G | CA416071889 | ATP13A2 | c.348-11T>C (n.348-11T>C) c.82-11T>C c.325-11T>C c.274-11T>C c.60-11T>C (n.60-11T>C) c.-499-11T>C (n.-499-11T>C) | dbSNP |
1 | g.17004832A>T | CA416071891 | ATP13A2 | c.348-11T>A (n.348-11T>A) c.82-11T>A c.325-11T>A c.274-11T>A c.60-11T>A (n.60-11T>A) c.-499-11T>A (n.-499-11T>A) | |
1 | g.17004833G>A | CA416071897 | ATP13A2 | c.348-12C>T (n.348-12C>T) c.82-12C>T c.325-12C>T c.274-12C>T c.60-12C>T (n.60-12C>T) c.-499-12C>T (n.-499-12C>T) | |
1 | g.17004833G>C | CA416071900 | ATP13A2 | c.348-12C>G (n.348-12C>G) c.82-12C>G c.325-12C>G c.274-12C>G c.60-12C>G (n.60-12C>G) c.-499-12C>G (n.-499-12C>G) | |
1 | g.17004833G>T | CA416071902 | ATP13A2 | c.348-12C>A (n.348-12C>A) c.82-12C>A c.325-12C>A c.274-12C>A c.60-12C>A (n.60-12C>A) c.-499-12C>A (n.-499-12C>A) | COSMIC |
1 | g.17004834G>A | CA416071906 | ATP13A2 | c.348-13C>T (n.348-13C>T) c.82-13C>T c.325-13C>T c.274-13C>T c.60-13C>T (n.60-13C>T) c.-499-13C>T (n.-499-13C>T) | |
1 | g.17004834G>C | CA416071908 | ATP13A2 | c.348-13C>G (n.348-13C>G) c.82-13C>G c.325-13C>G c.274-13C>G c.60-13C>G (n.60-13C>G) c.-499-13C>G (n.-499-13C>G) | |
1 | g.17004834G>T | CA416071904 | ATP13A2 | c.348-13C>A (n.348-13C>A) c.82-13C>A c.325-13C>A c.274-13C>A c.60-13C>A (n.60-13C>A) c.-499-13C>A (n.-499-13C>A) | |
1 | g.17004835T>A | CA416071910 | ATP13A2 | c.348-14A>T (n.348-14A>T) c.82-14A>T c.325-14A>T c.274-14A>T c.60-14A>T (n.60-14A>T) c.-499-14A>T (n.-499-14A>T) | |
1 | g.17004835T>C | CA416071920 | ATP13A2 | c.348-14A>G (n.348-14A>G) c.82-14A>G c.325-14A>G c.274-14A>G c.60-14A>G (n.60-14A>G) c.-499-14A>G (n.-499-14A>G) | |
1 | g.17004835T>G | CA416071912 | ATP13A2 | c.348-14A>C (n.348-14A>C) c.82-14A>C c.325-14A>C c.274-14A>C c.60-14A>C (n.60-14A>C) c.-499-14A>C (n.-499-14A>C) | |
1 | g.17004836G>A | CA416071924 | ATP13A2 | c.348-15C>T (n.348-15C>T) c.82-15C>T c.325-15C>T c.274-15C>T c.60-15C>T (n.60-15C>T) c.-499-15C>T (n.-499-15C>T) | dbSNP |
1 | g.17004836G>C | CA416071931 | ATP13A2 | c.348-15C>G (n.348-15C>G) c.82-15C>G c.325-15C>G c.274-15C>G c.60-15C>G (n.60-15C>G) c.-499-15C>G (n.-499-15C>G) | |
1 | g.17004836G= | CA1156072634 | ATP13A2 | c.348-15C= (n.348-15C=) c.82-15C= c.325-15C= c.274-15C= c.60-15C= (n.60-15C=) c.-499-15C= (n.-499-15C=) | |
1 | g.17004836G>T | CA416071927 | ATP13A2 | c.348-15C>A (n.348-15C>A) c.82-15C>A c.325-15C>A c.274-15C>A c.60-15C>A (n.60-15C>A) c.-499-15C>A (n.-499-15C>A) | |
1 | g.17004837A= | CA1156072636 | ATP13A2 | c.348-16T= (n.348-16T=) c.82-16T= c.325-16T= c.274-16T= c.60-16T= (n.60-16T=) c.-499-16T= (n.-499-16T=) | |
1 | g.17004837A>C | CA416071938 | ATP13A2 | c.348-16T>G (n.348-16T>G) c.82-16T>G c.325-16T>G c.274-16T>G c.60-16T>G (n.60-16T>G) c.-499-16T>G (n.-499-16T>G) | |
1 | g.17004837A>G | CA416071950 | ATP13A2 | c.348-16T>C (n.348-16T>C) c.82-16T>C c.325-16T>C c.274-16T>C c.60-16T>C (n.60-16T>C) c.-499-16T>C (n.-499-16T>C) | ClinVar dbSNP gnomAD v4 |
1 | g.17004837A>T | CA416071946 | ATP13A2 | c.348-16T>A (n.348-16T>A) c.82-16T>A c.325-16T>A c.274-16T>A c.60-16T>A (n.60-16T>A) c.-499-16T>A (n.-499-16T>A) | |
1 | g.17004838G>A | CA416071953 | ATP13A2 | c.348-17C>T (n.348-17C>T) c.82-17C>T c.325-17C>T c.274-17C>T c.60-17C>T (n.60-17C>T) c.-499-17C>T (n.-499-17C>T) | ClinVar |
1 | g.17004838G>C | CA416071959 | ATP13A2 | c.348-17C>G (n.348-17C>G) c.82-17C>G c.325-17C>G c.274-17C>G c.60-17C>G (n.60-17C>G) c.-499-17C>G (n.-499-17C>G) | |
1 | g.17004838G>T | CA416071957 | ATP13A2 | c.348-17C>A (n.348-17C>A) c.82-17C>A c.325-17C>A c.274-17C>A c.60-17C>A (n.60-17C>A) c.-499-17C>A (n.-499-17C>A) | gnomAD v4 |
1 | g.17004839G>A | CA416071962 | ATP13A2 | c.348-18C>T (n.348-18C>T) c.82-18C>T c.325-18C>T c.274-18C>T c.60-18C>T (n.60-18C>T) c.-499-18C>T (n.-499-18C>T) | |
1 | g.17004839G>C | CA416071966 | ATP13A2 | c.348-18C>G (n.348-18C>G) c.82-18C>G c.325-18C>G c.274-18C>G c.60-18C>G (n.60-18C>G) c.-499-18C>G (n.-499-18C>G) | |
1 | g.17004839G>T | CA416071964 | ATP13A2 | c.348-18C>A (n.348-18C>A) c.82-18C>A c.325-18C>A c.274-18C>A c.60-18C>A (n.60-18C>A) c.-499-18C>A (n.-499-18C>A) | |
1 | g.17004840G>A | CA416071969 | ATP13A2 | c.348-19C>T (n.348-19C>T) c.82-19C>T c.325-19C>T c.274-19C>T c.60-19C>T (n.60-19C>T) c.-499-19C>T (n.-499-19C>T) | |
1 | g.17004840G>C | CA416071971 | ATP13A2 | c.348-19C>G (n.348-19C>G) c.82-19C>G c.325-19C>G c.274-19C>G c.60-19C>G (n.60-19C>G) c.-499-19C>G (n.-499-19C>G) | |
1 | g.17004840G>T | CA416071972 | ATP13A2 | c.348-19C>A (n.348-19C>A) c.82-19C>A c.325-19C>A c.274-19C>A c.60-19C>A (n.60-19C>A) c.-499-19C>A (n.-499-19C>A) | |
1 | g.17004841T>A | CA416071975 | ATP13A2 | c.348-20A>T (n.348-20A>T) c.82-20A>T c.325-20A>T c.274-20A>T c.60-20A>T (n.60-20A>T) c.-499-20A>T (n.-499-20A>T) | |
1 | g.17004841T>C | CA416071978 | ATP13A2 | c.348-20A>G (n.348-20A>G) c.82-20A>G c.325-20A>G c.274-20A>G c.60-20A>G (n.60-20A>G) c.-499-20A>G (n.-499-20A>G) | dbSNP |
1 | g.17004841T>G | CA416071980 | ATP13A2 | c.348-20A>C (n.348-20A>C) c.82-20A>C c.325-20A>C c.274-20A>C c.60-20A>C (n.60-20A>C) c.-499-20A>C (n.-499-20A>C) | |
1 | g.17004841T= | CA1156072638 | ATP13A2 | c.348-20A= (n.348-20A=) c.82-20A= c.325-20A= c.274-20A= c.60-20A= (n.60-20A=) c.-499-20A= (n.-499-20A=) | |
1 | g.17004842T>A | CA416071983 | ATP13A2 | c.348-21A>T (n.348-21A>T) c.82-21A>T c.325-21A>T c.274-21A>T c.60-21A>T (n.60-21A>T) c.-499-21A>T (n.-499-21A>T) | |
1 | g.17004842T>C | CA416071986 | ATP13A2 | c.348-21A>G (n.348-21A>G) c.82-21A>G c.325-21A>G c.274-21A>G c.60-21A>G (n.60-21A>G) c.-499-21A>G (n.-499-21A>G) | |
1 | g.17004842T>G | CA416071990 | ATP13A2 | c.348-21A>C (n.348-21A>C) c.82-21A>C c.325-21A>C c.274-21A>C c.60-21A>C (n.60-21A>C) c.-499-21A>C (n.-499-21A>C) | |
1 | g.17004843A>C | CA416071993 | ATP13A2 | c.348-22T>G (n.348-22T>G) c.82-22T>G c.325-22T>G c.274-22T>G c.60-22T>G (n.60-22T>G) c.-499-22T>G (n.-499-22T>G) | |
1 | g.17004843A>G | CA416071997 | ATP13A2 | c.348-22T>C (n.348-22T>C) c.82-22T>C c.325-22T>C c.274-22T>C c.60-22T>C (n.60-22T>C) c.-499-22T>C (n.-499-22T>C) | |
1 | g.17004843A>T | CA416071994 | ATP13A2 | c.348-22T>A (n.348-22T>A) c.82-22T>A c.325-22T>A c.274-22T>A c.60-22T>A (n.60-22T>A) c.-499-22T>A (n.-499-22T>A) | |
1 | g.17004844C>A | CA416071998 | ATP13A2 | c.348-23G>T (n.348-23G>T) c.82-23G>T c.325-23G>T c.274-23G>T c.60-23G>T (n.60-23G>T) c.-499-23G>T (n.-499-23G>T) | |
1 | g.17004844C= | CA1156072642 | ATP13A2 | c.348-23G= (n.348-23G=) c.82-23G= c.325-23G= c.274-23G= c.60-23G= (n.60-23G=) c.-499-23G= (n.-499-23G=) | |
1 | g.17004844C>G | CA416071999 | ATP13A2 | c.348-23G>C (n.348-23G>C) c.82-23G>C c.325-23G>C c.274-23G>C c.60-23G>C (n.60-23G>C) c.-499-23G>C (n.-499-23G>C) | |
1 | g.17004844C>T | CA416072000 | ATP13A2 | c.348-23G>A (n.348-23G>A) c.82-23G>A c.325-23G>A c.274-23G>A c.60-23G>A (n.60-23G>A) c.-499-23G>A (n.-499-23G>A) | dbSNP |
1 | g.17004845T>A | CA416072001 | ATP13A2 | c.348-24A>T (n.348-24A>T) c.82-24A>T c.325-24A>T c.274-24A>T c.60-24A>T (n.60-24A>T) c.-499-24A>T (n.-499-24A>T) | |
1 | g.17004845T>C | CA416072003 | ATP13A2 | c.348-24A>G (n.348-24A>G) c.82-24A>G c.325-24A>G c.274-24A>G c.60-24A>G (n.60-24A>G) c.-499-24A>G (n.-499-24A>G) | |
1 | g.17004845T>G | CA416072004 | ATP13A2 | c.348-24A>C (n.348-24A>C) c.82-24A>C c.325-24A>C c.274-24A>C c.60-24A>C (n.60-24A>C) c.-499-24A>C (n.-499-24A>C) | |
1 | g.17004846C>A | CA416072008 | ATP13A2 | c.348-25G>T (n.348-25G>T) c.82-25G>T c.325-25G>T c.274-25G>T c.60-25G>T (n.60-25G>T) c.-499-25G>T (n.-499-25G>T) | |
1 | g.17004846C>G | CA416072014 | ATP13A2 | c.348-25G>C (n.348-25G>C) c.82-25G>C c.325-25G>C c.274-25G>C c.60-25G>C (n.60-25G>C) c.-499-25G>C (n.-499-25G>C) | gnomAD v4 |
1 | g.17004846C>T | CA416072010 | ATP13A2 | c.348-25G>A (n.348-25G>A) c.82-25G>A c.325-25G>A c.274-25G>A c.60-25G>A (n.60-25G>A) c.-499-25G>A (n.-499-25G>A) | |
1 | g.17004849_17004854del | CA2643675369 | ATP13A2 | c.348-30_348-25del (n.348-30_348-25del) c.82-30_82-25del c.325-30_325-25del c.274-30_274-25del c.60-30_60-25del (n.60-30_60-25del) c.-499-30_-499-25del (n.-499-30_-499-25del) | gnomAD v4 |
1 | g.17004847T>A | CA416072017 | ATP13A2 | c.348-26A>T (n.348-26A>T) c.82-26A>T c.325-26A>T c.274-26A>T c.60-26A>T (n.60-26A>T) c.-499-26A>T (n.-499-26A>T) | |
1 | g.17004847T>C | CA416072019 | ATP13A2 | c.348-26A>G (n.348-26A>G) c.82-26A>G c.325-26A>G c.274-26A>G c.60-26A>G (n.60-26A>G) c.-499-26A>G (n.-499-26A>G) | |
1 | g.17004847T>G | CA416072022 | ATP13A2 | c.348-26A>C (n.348-26A>C) c.82-26A>C c.325-26A>C c.274-26A>C c.60-26A>C (n.60-26A>C) c.-499-26A>C (n.-499-26A>C) | |
1 | g.17004848C>A | CA416072032 | ATP13A2 | c.348-27G>T (n.348-27G>T) c.82-27G>T c.325-27G>T c.274-27G>T c.60-27G>T (n.60-27G>T) c.-499-27G>T (n.-499-27G>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.17004848C= | CA1156072646 | ATP13A2 | c.348-27G= (n.348-27G=) c.82-27G= c.325-27G= c.274-27G= c.60-27G= (n.60-27G=) c.-499-27G= (n.-499-27G=) | |
1 | g.17004848C>G | CA416072037 | ATP13A2 | c.348-27G>C (n.348-27G>C) c.82-27G>C c.325-27G>C c.274-27G>C c.60-27G>C (n.60-27G>C) c.-499-27G>C (n.-499-27G>C) | |
1 | g.17004848C>T | CA18646317 | ATP13A2 | c.348-27G>A (n.348-27G>A) c.82-27G>A c.325-27G>A c.274-27G>A c.60-27G>A (n.60-27G>A) c.-499-27G>A (n.-499-27G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17004849G>A | CA637664 | ATP13A2 | c.348-28C>T (n.348-28C>T) c.82-28C>T c.325-28C>T c.274-28C>T c.60-28C>T (n.60-28C>T) c.-499-28C>T (n.-499-28C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17004849G>C | CA416072050 | ATP13A2 | c.348-28C>G (n.348-28C>G) c.82-28C>G c.325-28C>G c.274-28C>G c.60-28C>G (n.60-28C>G) c.-499-28C>G (n.-499-28C>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.17004849G= | CA1156072649 | ATP13A2 | c.348-28C= (n.348-28C=) c.82-28C= c.325-28C= c.274-28C= c.60-28C= (n.60-28C=) c.-499-28C= (n.-499-28C=) | |
1 | g.17004849G>T | CA416072048 | ATP13A2 | c.348-28C>A (n.348-28C>A) c.82-28C>A c.325-28C>A c.274-28C>A c.60-28C>A (n.60-28C>A) c.-499-28C>A (n.-499-28C>A) | |
1 | g.17004850A>C | CA416072064 | ATP13A2 | c.348-29T>G (n.348-29T>G) c.82-29T>G c.325-29T>G c.274-29T>G c.60-29T>G (n.60-29T>G) c.-499-29T>G (n.-499-29T>G) | |
1 | g.17004850A>G | CA416072067 | ATP13A2 | c.348-29T>C (n.348-29T>C) c.82-29T>C c.325-29T>C c.274-29T>C c.60-29T>C (n.60-29T>C) c.-499-29T>C (n.-499-29T>C) | |
1 | g.17004850A>T | CA416072068 | ATP13A2 | c.348-29T>A (n.348-29T>A) c.82-29T>A c.325-29T>A c.274-29T>A c.60-29T>A (n.60-29T>A) c.-499-29T>A (n.-499-29T>A) | |
1 | g.17004851G>A | CA416072069 | ATP13A2 | c.348-30C>T (n.348-30C>T) c.82-30C>T c.325-30C>T c.274-30C>T c.60-30C>T (n.60-30C>T) c.-499-30C>T (n.-499-30C>T) | |
1 | g.17004851G>C | CA416072070 | ATP13A2 | c.348-30C>G (n.348-30C>G) c.82-30C>G c.325-30C>G c.274-30C>G c.60-30C>G (n.60-30C>G) c.-499-30C>G (n.-499-30C>G) | |
1 | g.17004851G>T | CA416072071 | ATP13A2 | c.348-30C>A (n.348-30C>A) c.82-30C>A c.325-30C>A c.274-30C>A c.60-30C>A (n.60-30C>A) c.-499-30C>A (n.-499-30C>A) | |
1 | g.17004852C>A | CA416072083 | ATP13A2 | c.348-31G>T (n.348-31G>T) c.82-31G>T c.325-31G>T c.274-31G>T c.60-31G>T (n.60-31G>T) c.-499-31G>T (n.-499-31G>T) | |
1 | g.17004852C>G | CA416072081 | ATP13A2 | c.348-31G>C (n.348-31G>C) c.82-31G>C c.325-31G>C c.274-31G>C c.60-31G>C (n.60-31G>C) c.-499-31G>C (n.-499-31G>C) | |
1 | g.17004852C>T | CA416072072 | ATP13A2 | c.348-31G>A (n.348-31G>A) c.82-31G>A c.325-31G>A c.274-31G>A c.60-31G>A (n.60-31G>A) c.-499-31G>A (n.-499-31G>A) | gnomAD v4 |
1 | g.17004853T>A | CA416072086 | ATP13A2 | c.348-32A>T (n.348-32A>T) c.82-32A>T c.325-32A>T c.274-32A>T c.60-32A>T (n.60-32A>T) c.-499-32A>T (n.-499-32A>T) | |
1 | g.17004853T>C | CA416072092 | ATP13A2 | c.348-32A>G (n.348-32A>G) c.82-32A>G c.325-32A>G c.274-32A>G c.60-32A>G (n.60-32A>G) c.-499-32A>G (n.-499-32A>G) | gnomAD v4 |
1 | g.17004853T>G | CA416072090 | ATP13A2 | c.348-32A>C (n.348-32A>C) c.82-32A>C c.325-32A>C c.274-32A>C c.60-32A>C (n.60-32A>C) c.-499-32A>C (n.-499-32A>C) | |
1 | g.17004854C>A | CA416072096 | ATP13A2 | c.348-33G>T (n.348-33G>T) c.82-33G>T c.325-33G>T c.274-33G>T c.60-33G>T (n.60-33G>T) c.-499-33G>T (n.-499-33G>T) | |
1 | g.17004854C= | CA1156072652 | ATP13A2 | c.348-33G= (n.348-33G=) c.82-33G= c.325-33G= c.274-33G= c.60-33G= (n.60-33G=) c.-499-33G= (n.-499-33G=) | |
1 | g.17004854C>G | CA416072098 | ATP13A2 | c.348-33G>C (n.348-33G>C) c.82-33G>C c.325-33G>C c.274-33G>C c.60-33G>C (n.60-33G>C) c.-499-33G>C (n.-499-33G>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.17004854C>T | CA416072101 | ATP13A2 | c.348-33G>A (n.348-33G>A) c.82-33G>A c.325-33G>A c.274-33G>A c.60-33G>A (n.60-33G>A) c.-499-33G>A (n.-499-33G>A) | |
1 | g.17004855T>A | CA416072103 | ATP13A2 | c.348-34A>T (n.348-34A>T) c.82-34A>T c.325-34A>T c.274-34A>T c.60-34A>T (n.60-34A>T) c.-499-34A>T (n.-499-34A>T) | |
1 | g.17004855T>C | CA416072106 | ATP13A2 | c.348-34A>G (n.348-34A>G) c.82-34A>G c.325-34A>G c.274-34A>G c.60-34A>G (n.60-34A>G) c.-499-34A>G (n.-499-34A>G) | |
1 | g.17004855T>G | CA416072109 | ATP13A2 | c.348-34A>C (n.348-34A>C) c.82-34A>C c.325-34A>C c.274-34A>C c.60-34A>C (n.60-34A>C) c.-499-34A>C (n.-499-34A>C) | |
1 | g.17004856G>A | CA416072117 | ATP13A2 | c.348-35C>T (n.348-35C>T) c.82-35C>T c.325-35C>T c.274-35C>T c.60-35C>T (n.60-35C>T) c.-499-35C>T (n.-499-35C>T) | |
1 | g.17004856G>C | CA416072114 | ATP13A2 | c.348-35C>G (n.348-35C>G) c.82-35C>G c.325-35C>G c.274-35C>G c.60-35C>G (n.60-35C>G) c.-499-35C>G (n.-499-35C>G) | |
1 | g.17004856G>T | CA416072112 | ATP13A2 | c.348-35C>A (n.348-35C>A) c.82-35C>A c.325-35C>A c.274-35C>A c.60-35C>A (n.60-35C>A) c.-499-35C>A (n.-499-35C>A) | |
1 | g.17004857G>A | CA416072118 | ATP13A2 | c.348-36C>T (n.348-36C>T) c.82-36C>T c.325-36C>T c.274-36C>T c.60-36C>T (n.60-36C>T) c.-499-36C>T (n.-499-36C>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.17004857G>C | CA416072119 | ATP13A2 | c.348-36C>G (n.348-36C>G) c.82-36C>G c.325-36C>G c.274-36C>G c.60-36C>G (n.60-36C>G) c.-499-36C>G (n.-499-36C>G) | |
1 | g.17004857G= | CA1156072655 | ATP13A2 | c.348-36C= (n.348-36C=) c.82-36C= c.325-36C= c.274-36C= c.60-36C= (n.60-36C=) c.-499-36C= (n.-499-36C=) | |
1 | g.17004857G>T | CA416072120 | ATP13A2 | c.348-36C>A (n.348-36C>A) c.82-36C>A c.325-36C>A c.274-36C>A c.60-36C>A (n.60-36C>A) c.-499-36C>A (n.-499-36C>A) | |
1 | g.17004858G>A | CA416072121 | ATP13A2 | c.348-37C>T (n.348-37C>T) c.82-37C>T c.325-37C>T c.274-37C>T c.60-37C>T (n.60-37C>T) c.-499-37C>T (n.-499-37C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.17004858G>C | CA416072122 | ATP13A2 | c.348-37C>G (n.348-37C>G) c.82-37C>G c.325-37C>G c.274-37C>G c.60-37C>G (n.60-37C>G) c.-499-37C>G (n.-499-37C>G) | |
1 | g.17004858G= | CA1156072657 | ATP13A2 | c.348-37C= (n.348-37C=) c.82-37C= c.325-37C= c.274-37C= c.60-37C= (n.60-37C=) c.-499-37C= (n.-499-37C=) | |
1 | g.17004858G>T | CA416072124 | ATP13A2 | c.348-37C>A (n.348-37C>A) c.82-37C>A c.325-37C>A c.274-37C>A c.60-37C>A (n.60-37C>A) c.-499-37C>A (n.-499-37C>A) | |
1 | g.17004859A>C | CA416072131 | ATP13A2 | c.348-38T>G (n.348-38T>G) c.82-38T>G c.325-38T>G c.274-38T>G c.60-38T>G (n.60-38T>G) c.-499-38T>G (n.-499-38T>G) | |
1 | g.17004859A>G | CA416072129 | ATP13A2 | c.348-38T>C (n.348-38T>C) c.82-38T>C c.325-38T>C c.274-38T>C c.60-38T>C (n.60-38T>C) c.-499-38T>C (n.-499-38T>C) | |
1 | g.17004859A>T | CA416072127 | ATP13A2 | c.348-38T>A (n.348-38T>A) c.82-38T>A c.325-38T>A c.274-38T>A c.60-38T>A (n.60-38T>A) c.-499-38T>A (n.-499-38T>A) | |
1 | g.17004860G>A | CA416072135 | ATP13A2 | c.348-39C>T (n.348-39C>T) c.82-39C>T c.325-39C>T c.274-39C>T c.60-39C>T (n.60-39C>T) c.-499-39C>T (n.-499-39C>T) | |
1 | g.17004860G>C | CA416072136 | ATP13A2 | c.348-39C>G (n.348-39C>G) c.82-39C>G c.325-39C>G c.274-39C>G c.60-39C>G (n.60-39C>G) c.-499-39C>G (n.-499-39C>G) | |
1 | g.17004860G>T | CA416072137 | ATP13A2 | c.348-39C>A (n.348-39C>A) c.82-39C>A c.325-39C>A c.274-39C>A c.60-39C>A (n.60-39C>A) c.-499-39C>A (n.-499-39C>A) | |
1 | g.17004861C>A | CA416072138 | ATP13A2 | c.348-40G>T (n.348-40G>T) c.82-40G>T c.325-40G>T c.274-40G>T c.60-40G>T (n.60-40G>T) c.-499-40G>T (n.-499-40G>T) | |
1 | g.17004861C>G | CA416072139 | ATP13A2 | c.348-40G>C (n.348-40G>C) c.82-40G>C c.325-40G>C c.274-40G>C c.60-40G>C (n.60-40G>C) c.-499-40G>C (n.-499-40G>C) | |
1 | g.17004861C>T | CA416072140 | ATP13A2 | c.348-40G>A (n.348-40G>A) c.82-40G>A c.325-40G>A c.274-40G>A c.60-40G>A (n.60-40G>A) c.-499-40G>A (n.-499-40G>A) | |
1 | g.17004862T>A | CA416072142 | ATP13A2 | c.348-41A>T (n.348-41A>T) c.82-41A>T c.325-41A>T c.274-41A>T c.60-41A>T (n.60-41A>T) c.-499-41A>T (n.-499-41A>T) | |
1 | g.17004862T>C | CA416072144 | ATP13A2 | c.348-41A>G (n.348-41A>G) c.82-41A>G c.325-41A>G c.274-41A>G c.60-41A>G (n.60-41A>G) c.-499-41A>G (n.-499-41A>G) | |
1 | g.17004862T>G | CA416072145 | ATP13A2 | c.348-41A>C (n.348-41A>C) c.82-41A>C c.325-41A>C c.274-41A>C c.60-41A>C (n.60-41A>C) c.-499-41A>C (n.-499-41A>C) |