| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.16986235_16986242del | CA2643668255 | ATP13A2 | c.3526_3533del (p.Ala1176ProfsTer?) c.3224_3231del (p.Arg1075ProfsTer2) c.3511_3518del (p.Ala1171ProfsTer?) n.1572_1579del c.944_951del (p.Arg315ProfsTer2) c.3356_3363del (p.Arg1119ProfsTer2) c.3353_3360del (p.Arg1118ProfsTer2) c.3341_3348del (p.Arg1114ProfsTer2) c.3329_3336del (p.Arg1110ProfsTer2) c.3296_3303del (p.Arg1099ProfsTer2) c.3239_3246del (p.Arg1080ProfsTer2) c.3338_3345del (p.Arg1113ProfsTer2) c.3314_3321del (p.Arg1105ProfsTer2) c.3149_3156del (p.Arg1050ProfsTer2) c.3508_3515del (p.Ala1170ProfsTer?) c.3484_3491del (p.Ala1162ProfsTer?) c.3481_3488del (p.Ala1161ProfsTer?) c.3409_3416del (p.Ala1137ProfsTer?) c.3394_3401del (p.Ala1132ProfsTer?) c.3319_3326del (p.Ala1107ProfsTer?) | gnomAD v4 |
| 1 | g.16986234C>A | CA338231948 | ATP13A2 | c.3530G>T (p.Gly1177Val) c.3228G>T (p.Arg1076=) c.3515G>T (p.Gly1172Val) n.1576G>T c.948G>T (p.Arg316=) c.3360G>T (p.Arg1120=) c.3357G>T (p.Arg1119=) c.3345G>T (p.Arg1115=) c.3333G>T (p.Arg1111=) c.3300G>T (p.Arg1100=) c.3243G>T (p.Arg1081=) c.3342G>T (p.Arg1114=) c.3318G>T (p.Arg1106=) c.3153G>T (p.Arg1051=) c.3512G>T (p.Gly1171Val) c.3488G>T (p.Gly1163Val) c.3485G>T (p.Gly1162Val) c.3413G>T (p.Gly1138Val) c.3398G>T (p.Gly1133Val) c.3323G>T (p.Gly1108Val) | dbSNP |
| 1 | g.16986234C= | CA1156049263 | ATP13A2 | c.3530G= (p.Gly1177=) c.3228G= (p.Arg1076=) c.3515G= (p.Gly1172=) n.1576G= c.948G= (p.Arg316=) c.3360G= (p.Arg1120=) c.3357G= (p.Arg1119=) c.3345G= (p.Arg1115=) c.3333G= (p.Arg1111=) c.3300G= (p.Arg1100=) c.3243G= (p.Arg1081=) c.3342G= (p.Arg1114=) c.3318G= (p.Arg1106=) c.3153G= (p.Arg1051=) c.3512G= (p.Gly1171=) c.3488G= (p.Gly1163=) c.3485G= (p.Gly1162=) c.3413G= (p.Gly1138=) c.3398G= (p.Gly1133=) c.3323G= (p.Gly1108=) | |
| 1 | g.16986234C>G | CA338231955 | ATP13A2 | c.3530G>C (p.Gly1177Ala) c.3228G>C (p.Arg1076=) c.3515G>C (p.Gly1172Ala) n.1576G>C c.948G>C (p.Arg316=) c.3360G>C (p.Arg1120=) c.3357G>C (p.Arg1119=) c.3345G>C (p.Arg1115=) c.3333G>C (p.Arg1111=) c.3300G>C (p.Arg1100=) c.3243G>C (p.Arg1081=) c.3342G>C (p.Arg1114=) c.3318G>C (p.Arg1106=) c.3153G>C (p.Arg1051=) c.3512G>C (p.Gly1171Ala) c.3488G>C (p.Gly1163Ala) c.3485G>C (p.Gly1162Ala) c.3413G>C (p.Gly1138Ala) c.3398G>C (p.Gly1133Ala) c.3323G>C (p.Gly1108Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.16986234C>T | CA338231958 | ATP13A2 | c.3530G>A (p.Gly1177Asp) c.3228G>A (p.Arg1076=) c.3515G>A (p.Gly1172Asp) n.1576G>A c.948G>A (p.Arg316=) c.3360G>A (p.Arg1120=) c.3357G>A (p.Arg1119=) c.3345G>A (p.Arg1115=) c.3333G>A (p.Arg1111=) c.3300G>A (p.Arg1100=) c.3243G>A (p.Arg1081=) c.3342G>A (p.Arg1114=) c.3318G>A (p.Arg1106=) c.3153G>A (p.Arg1051=) c.3512G>A (p.Gly1171Asp) c.3488G>A (p.Gly1163Asp) c.3485G>A (p.Gly1162Asp) c.3413G>A (p.Gly1138Asp) c.3398G>A (p.Gly1133Asp) c.3323G>A (p.Gly1108Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.16986235C>A | CA338231970 | ATP13A2 | c.3529G>T (p.Gly1177Cys) c.3227G>T (p.Arg1076Leu) c.3514G>T (p.Gly1172Cys) n.1575G>T c.947G>T (p.Arg316Leu) c.3359G>T (p.Arg1120Leu) c.3356G>T (p.Arg1119Leu) c.3344G>T (p.Arg1115Leu) c.3332G>T (p.Arg1111Leu) c.3299G>T (p.Arg1100Leu) c.3242G>T (p.Arg1081Leu) c.3341G>T (p.Arg1114Leu) c.3317G>T (p.Arg1106Leu) c.3152G>T (p.Arg1051Leu) c.3511G>T (p.Gly1171Cys) c.3487G>T (p.Gly1163Cys) c.3484G>T (p.Gly1162Cys) c.3412G>T (p.Gly1138Cys) c.3397G>T (p.Gly1133Cys) c.3322G>T (p.Gly1108Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.16986235C= | CA1145805579 | ATP13A2 | c.3529G= (p.Gly1177=) c.3227G= (p.Arg1076=) c.3514G= (p.Gly1172=) n.1575G= c.947G= (p.Arg316=) c.3359G= (p.Arg1120=) c.3356G= (p.Arg1119=) c.3344G= (p.Arg1115=) c.3332G= (p.Arg1111=) c.3299G= (p.Arg1100=) c.3242G= (p.Arg1081=) c.3341G= (p.Arg1114=) c.3317G= (p.Arg1106=) c.3152G= (p.Arg1051=) c.3511G= (p.Gly1171=) c.3487G= (p.Gly1163=) c.3484G= (p.Gly1162=) c.3412G= (p.Gly1138=) c.3397G= (p.Gly1133=) c.3322G= (p.Gly1108=) | |
| 1 | g.16986235C>G | CA338231966 | ATP13A2 | c.3529G>C (p.Gly1177Arg) c.3227G>C (p.Arg1076Pro) c.3514G>C (p.Gly1172Arg) n.1575G>C c.947G>C (p.Arg316Pro) c.3359G>C (p.Arg1120Pro) c.3356G>C (p.Arg1119Pro) c.3344G>C (p.Arg1115Pro) c.3332G>C (p.Arg1111Pro) c.3299G>C (p.Arg1100Pro) c.3242G>C (p.Arg1081Pro) c.3341G>C (p.Arg1114Pro) c.3317G>C (p.Arg1106Pro) c.3152G>C (p.Arg1051Pro) c.3511G>C (p.Gly1171Arg) c.3487G>C (p.Gly1163Arg) c.3484G>C (p.Gly1162Arg) c.3412G>C (p.Gly1138Arg) c.3397G>C (p.Gly1133Arg) c.3322G>C (p.Gly1108Arg) | |
| 1 | g.16986235C>T | CA636456 | ATP13A2 | c.3529G>A (p.Gly1177Ser) c.3227G>A (p.Arg1076Gln) c.3514G>A (p.Gly1172Ser) n.1575G>A c.947G>A (p.Arg316Gln) c.3359G>A (p.Arg1120Gln) c.3356G>A (p.Arg1119Gln) c.3344G>A (p.Arg1115Gln) c.3332G>A (p.Arg1111Gln) c.3299G>A (p.Arg1100Gln) c.3242G>A (p.Arg1081Gln) c.3341G>A (p.Arg1114Gln) c.3317G>A (p.Arg1106Gln) c.3152G>A (p.Arg1051Gln) c.3511G>A (p.Gly1171Ser) c.3487G>A (p.Gly1163Ser) c.3484G>A (p.Gly1162Ser) c.3412G>A (p.Gly1138Ser) c.3397G>A (p.Gly1133Ser) c.3322G>A (p.Gly1108Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.16986241_16986250dup | CA2643668286 | ATP13A2 | c.3520_3529dup (p.Gly1177AlafsTer?) c.3218_3227dup (p.Pro1077CysfsTer6) c.3505_3514dup (p.Gly1172AlafsTer?) n.1566_1575dup c.938_947dup (p.Pro317CysfsTer6) c.3350_3359dup (p.Pro1121CysfsTer6) c.3347_3356dup (p.Pro1120CysfsTer6) c.3335_3344dup (p.Pro1116CysfsTer6) c.3323_3332dup (p.Pro1112CysfsTer6) c.3290_3299dup (p.Pro1101CysfsTer6) c.3233_3242dup (p.Pro1082CysfsTer6) c.3332_3341dup (p.Pro1115CysfsTer6) c.3308_3317dup (p.Pro1107CysfsTer6) c.3143_3152dup (p.Pro1052CysfsTer6) c.3502_3511dup (p.Gly1171AlafsTer?) c.3478_3487dup (p.Gly1163AlafsTer?) c.3475_3484dup (p.Gly1162AlafsTer?) c.3403_3412dup (p.Gly1138AlafsTer?) c.3388_3397dup (p.Gly1133AlafsTer?) c.3313_3322dup (p.Gly1108AlafsTer?) | gnomAD v4 |
| 1 | g.16986236G>A | CA636457 | ATP13A2 | c.3528C>T (p.Ala1176=) c.3226C>T (p.Arg1076Trp) c.3513C>T (p.Ala1171=) n.1574C>T c.946C>T (p.Arg316Trp) c.3358C>T (p.Arg1120Trp) c.3355C>T (p.Arg1119Trp) c.3343C>T (p.Arg1115Trp) c.3331C>T (p.Arg1111Trp) c.3298C>T (p.Arg1100Trp) c.3241C>T (p.Arg1081Trp) c.3340C>T (p.Arg1114Trp) c.3316C>T (p.Arg1106Trp) c.3151C>T (p.Arg1051Trp) c.3510C>T (p.Ala1170=) c.3486C>T (p.Ala1162=) c.3483C>T (p.Ala1161=) c.3411C>T (p.Ala1137=) c.3396C>T (p.Ala1132=) c.3321C>T (p.Ala1107=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16986236G>C | CA636458 | ATP13A2 | c.3528C>G (p.Ala1176=) c.3226C>G (p.Arg1076Gly) c.3513C>G (p.Ala1171=) n.1574C>G c.946C>G (p.Arg316Gly) c.3358C>G (p.Arg1120Gly) c.3355C>G (p.Arg1119Gly) c.3343C>G (p.Arg1115Gly) c.3331C>G (p.Arg1111Gly) c.3298C>G (p.Arg1100Gly) c.3241C>G (p.Arg1081Gly) c.3340C>G (p.Arg1114Gly) c.3316C>G (p.Arg1106Gly) c.3151C>G (p.Arg1051Gly) c.3510C>G (p.Ala1170=) c.3486C>G (p.Ala1162=) c.3483C>G (p.Ala1161=) c.3411C>G (p.Ala1137=) c.3396C>G (p.Ala1132=) c.3321C>G (p.Ala1107=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.16986236G= | CA1156049282 | ATP13A2 | c.3528C= (p.Ala1176=) c.3226C= (p.Arg1076=) c.3513C= (p.Ala1171=) n.1574C= c.946C= (p.Arg316=) c.3358C= (p.Arg1120=) c.3355C= (p.Arg1119=) c.3343C= (p.Arg1115=) c.3331C= (p.Arg1111=) c.3298C= (p.Arg1100=) c.3241C= (p.Arg1081=) c.3340C= (p.Arg1114=) c.3316C= (p.Arg1106=) c.3151C= (p.Arg1051=) c.3510C= (p.Ala1170=) c.3486C= (p.Ala1162=) c.3483C= (p.Ala1161=) c.3411C= (p.Ala1137=) c.3396C= (p.Ala1132=) c.3321C= (p.Ala1107=) | |
| 1 | g.16986236G>T | CA416093451 | ATP13A2 | c.3528C>A (p.Ala1176=) c.3226C>A (p.Arg1076=) c.3513C>A (p.Ala1171=) n.1574C>A c.946C>A (p.Arg316=) c.3358C>A (p.Arg1120=) c.3355C>A (p.Arg1119=) c.3343C>A (p.Arg1115=) c.3331C>A (p.Arg1111=) c.3298C>A (p.Arg1100=) c.3241C>A (p.Arg1081=) c.3340C>A (p.Arg1114=) c.3316C>A (p.Arg1106=) c.3151C>A (p.Arg1051=) c.3510C>A (p.Ala1170=) c.3486C>A (p.Ala1162=) c.3483C>A (p.Ala1161=) c.3411C>A (p.Ala1137=) c.3396C>A (p.Ala1132=) c.3321C>A (p.Ala1107=) | gnomAD v4 |
| 1 | g.16986237G>A | CA338231973 | ATP13A2 | c.3527C>T (p.Ala1176Val) c.3225C>T (p.Arg1075=) c.3512C>T (p.Ala1171Val) n.1573C>T c.945C>T (p.Arg315=) c.3357C>T (p.Arg1119=) c.3354C>T (p.Arg1118=) c.3342C>T (p.Arg1114=) c.3330C>T (p.Arg1110=) c.3297C>T (p.Arg1099=) c.3240C>T (p.Arg1080=) c.3339C>T (p.Arg1113=) c.3315C>T (p.Arg1105=) c.3150C>T (p.Arg1050=) c.3509C>T (p.Ala1170Val) c.3485C>T (p.Ala1162Val) c.3482C>T (p.Ala1161Val) c.3410C>T (p.Ala1137Val) c.3395C>T (p.Ala1132Val) c.3320C>T (p.Ala1107Val) | |
| 1 | g.16986237G>C | CA338231974 | ATP13A2 | c.3527C>G (p.Ala1176Gly) c.3225C>G (p.Arg1075=) c.3512C>G (p.Ala1171Gly) n.1573C>G c.945C>G (p.Arg315=) c.3357C>G (p.Arg1119=) c.3354C>G (p.Arg1118=) c.3342C>G (p.Arg1114=) c.3330C>G (p.Arg1110=) c.3297C>G (p.Arg1099=) c.3240C>G (p.Arg1080=) c.3339C>G (p.Arg1113=) c.3315C>G (p.Arg1105=) c.3150C>G (p.Arg1050=) c.3509C>G (p.Ala1170Gly) c.3485C>G (p.Ala1162Gly) c.3482C>G (p.Ala1161Gly) c.3410C>G (p.Ala1137Gly) c.3395C>G (p.Ala1132Gly) c.3320C>G (p.Ala1107Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.16986237G= | CA1156049290 | ATP13A2 | c.3527C= (p.Ala1176=) c.3225C= (p.Arg1075=) c.3512C= (p.Ala1171=) n.1573C= c.945C= (p.Arg315=) c.3357C= (p.Arg1119=) c.3354C= (p.Arg1118=) c.3342C= (p.Arg1114=) c.3330C= (p.Arg1110=) c.3297C= (p.Arg1099=) c.3240C= (p.Arg1080=) c.3339C= (p.Arg1113=) c.3315C= (p.Arg1105=) c.3150C= (p.Arg1050=) c.3509C= (p.Ala1170=) c.3485C= (p.Ala1162=) c.3482C= (p.Ala1161=) c.3410C= (p.Ala1137=) c.3395C= (p.Ala1132=) c.3320C= (p.Ala1107=) | |
| 1 | g.16986237G>T | CA338231975 | ATP13A2 | c.3527C>A (p.Ala1176Asp) c.3225C>A (p.Arg1075=) c.3512C>A (p.Ala1171Asp) n.1573C>A c.945C>A (p.Arg315=) c.3357C>A (p.Arg1119=) c.3354C>A (p.Arg1118=) c.3342C>A (p.Arg1114=) c.3330C>A (p.Arg1110=) c.3297C>A (p.Arg1099=) c.3240C>A (p.Arg1080=) c.3339C>A (p.Arg1113=) c.3315C>A (p.Arg1105=) c.3150C>A (p.Arg1050=) c.3509C>A (p.Ala1170Asp) c.3485C>A (p.Ala1162Asp) c.3482C>A (p.Ala1161Asp) c.3410C>A (p.Ala1137Asp) c.3395C>A (p.Ala1132Asp) c.3320C>A (p.Ala1107Asp) | |
| 1 | g.16986238C>A | CA338231976 | ATP13A2 | c.3526G>T (p.Ala1176Ser) c.3224G>T (p.Arg1075Leu) c.3511G>T (p.Ala1171Ser) n.1572G>T c.944G>T (p.Arg315Leu) c.3356G>T (p.Arg1119Leu) c.3353G>T (p.Arg1118Leu) c.3341G>T (p.Arg1114Leu) c.3329G>T (p.Arg1110Leu) c.3296G>T (p.Arg1099Leu) c.3239G>T (p.Arg1080Leu) c.3338G>T (p.Arg1113Leu) c.3314G>T (p.Arg1105Leu) c.3149G>T (p.Arg1050Leu) c.3508G>T (p.Ala1170Ser) c.3484G>T (p.Ala1162Ser) c.3481G>T (p.Ala1161Ser) c.3409G>T (p.Ala1137Ser) c.3394G>T (p.Ala1132Ser) c.3319G>T (p.Ala1107Ser) | |
| 1 | g.16986238C= | CA1156049295 | ATP13A2 | c.3526G= (p.Ala1176=) c.3224G= (p.Arg1075=) c.3511G= (p.Ala1171=) n.1572G= c.944G= (p.Arg315=) c.3356G= (p.Arg1119=) c.3353G= (p.Arg1118=) c.3341G= (p.Arg1114=) c.3329G= (p.Arg1110=) c.3296G= (p.Arg1099=) c.3239G= (p.Arg1080=) c.3338G= (p.Arg1113=) c.3314G= (p.Arg1105=) c.3149G= (p.Arg1050=) c.3508G= (p.Ala1170=) c.3484G= (p.Ala1162=) c.3481G= (p.Ala1161=) c.3409G= (p.Ala1137=) c.3394G= (p.Ala1132=) c.3319G= (p.Ala1107=) | |
| 1 | g.16986238C>G | CA338231977 | ATP13A2 | c.3526G>C (p.Ala1176Pro) c.3224G>C (p.Arg1075Pro) c.3511G>C (p.Ala1171Pro) n.1572G>C c.944G>C (p.Arg315Pro) c.3356G>C (p.Arg1119Pro) c.3353G>C (p.Arg1118Pro) c.3341G>C (p.Arg1114Pro) c.3329G>C (p.Arg1110Pro) c.3296G>C (p.Arg1099Pro) c.3239G>C (p.Arg1080Pro) c.3338G>C (p.Arg1113Pro) c.3314G>C (p.Arg1105Pro) c.3149G>C (p.Arg1050Pro) c.3508G>C (p.Ala1170Pro) c.3484G>C (p.Ala1162Pro) c.3481G>C (p.Ala1161Pro) c.3409G>C (p.Ala1137Pro) c.3394G>C (p.Ala1132Pro) c.3319G>C (p.Ala1107Pro) | gnomAD v4 |
| 1 | g.16986238C>T | CA338231980 | ATP13A2 | c.3526G>A (p.Ala1176Thr) c.3224G>A (p.Arg1075His) c.3511G>A (p.Ala1171Thr) n.1572G>A c.944G>A (p.Arg315His) c.3356G>A (p.Arg1119His) c.3353G>A (p.Arg1118His) c.3341G>A (p.Arg1114His) c.3329G>A (p.Arg1110His) c.3296G>A (p.Arg1099His) c.3239G>A (p.Arg1080His) c.3338G>A (p.Arg1113His) c.3314G>A (p.Arg1105His) c.3149G>A (p.Arg1050His) c.3508G>A (p.Ala1170Thr) c.3484G>A (p.Ala1162Thr) c.3481G>A (p.Ala1161Thr) c.3409G>A (p.Ala1137Thr) c.3394G>A (p.Ala1132Thr) c.3319G>A (p.Ala1107Thr) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.16986239G>A | CA636459 | ATP13A2 | c.3525C>T (p.Pro1175=) c.3223C>T (p.Arg1075Cys) c.3510C>T (p.Pro1170=) n.1571C>T c.943C>T (p.Arg315Cys) c.3355C>T (p.Arg1119Cys) c.3352C>T (p.Arg1118Cys) c.3340C>T (p.Arg1114Cys) c.3328C>T (p.Arg1110Cys) c.3295C>T (p.Arg1099Cys) c.3238C>T (p.Arg1080Cys) c.3337C>T (p.Arg1113Cys) c.3313C>T (p.Arg1105Cys) c.3148C>T (p.Arg1050Cys) c.3507C>T (p.Pro1169=) c.3483C>T (p.Pro1161=) c.3480C>T (p.Pro1160=) c.3408C>T (p.Pro1136=) c.3393C>T (p.Pro1131=) c.3318C>T (p.Pro1106=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16986239G>C | CA338231987 | ATP13A2 | c.3525C>G (p.Pro1175=) c.3223C>G (p.Arg1075Gly) c.3510C>G (p.Pro1170=) n.1571C>G c.943C>G (p.Arg315Gly) c.3355C>G (p.Arg1119Gly) c.3352C>G (p.Arg1118Gly) c.3340C>G (p.Arg1114Gly) c.3328C>G (p.Arg1110Gly) c.3295C>G (p.Arg1099Gly) c.3238C>G (p.Arg1080Gly) c.3337C>G (p.Arg1113Gly) c.3313C>G (p.Arg1105Gly) c.3148C>G (p.Arg1050Gly) c.3507C>G (p.Pro1169=) c.3483C>G (p.Pro1161=) c.3480C>G (p.Pro1160=) c.3408C>G (p.Pro1136=) c.3393C>G (p.Pro1131=) c.3318C>G (p.Pro1106=) | gnomAD v4 |
| 1 | g.16986239G= | CA1156049300 | ATP13A2 | c.3525C= (p.Pro1175=) c.3223C= (p.Arg1075=) c.3510C= (p.Pro1170=) n.1571C= c.943C= (p.Arg315=) c.3355C= (p.Arg1119=) c.3352C= (p.Arg1118=) c.3340C= (p.Arg1114=) c.3328C= (p.Arg1110=) c.3295C= (p.Arg1099=) c.3238C= (p.Arg1080=) c.3337C= (p.Arg1113=) c.3313C= (p.Arg1105=) c.3148C= (p.Arg1050=) c.3507C= (p.Pro1169=) c.3483C= (p.Pro1161=) c.3480C= (p.Pro1160=) c.3408C= (p.Pro1136=) c.3393C= (p.Pro1131=) c.3318C= (p.Pro1106=) | |
| 1 | g.16986239G>T | CA338231990 | ATP13A2 | c.3525C>A (p.Pro1175=) c.3223C>A (p.Arg1075Ser) c.3510C>A (p.Pro1170=) n.1571C>A c.943C>A (p.Arg315Ser) c.3355C>A (p.Arg1119Ser) c.3352C>A (p.Arg1118Ser) c.3340C>A (p.Arg1114Ser) c.3328C>A (p.Arg1110Ser) c.3295C>A (p.Arg1099Ser) c.3238C>A (p.Arg1080Ser) c.3337C>A (p.Arg1113Ser) c.3313C>A (p.Arg1105Ser) c.3148C>A (p.Arg1050Ser) c.3507C>A (p.Pro1169=) c.3483C>A (p.Pro1161=) c.3480C>A (p.Pro1160=) c.3408C>A (p.Pro1136=) c.3393C>A (p.Pro1131=) c.3318C>A (p.Pro1106=) | |
| 1 | g.16986240_16986241insAAGG | CA2643668319 | ATP13A2 | c.3525_3526insTTCC (p.Ala1176PhefsTer?) c.3223_3224insTTCC (p.Arg1075LeufsTer6) c.3510_3511insTTCC (p.Ala1171PhefsTer?) n.1571_1572insTTCC c.943_944insTTCC (p.Arg315LeufsTer6) c.3355_3356insTTCC (p.Arg1119LeufsTer6) c.3352_3353insTTCC (p.Arg1118LeufsTer6) c.3340_3341insTTCC (p.Arg1114LeufsTer6) c.3328_3329insTTCC (p.Arg1110LeufsTer6) c.3295_3296insTTCC (p.Arg1099LeufsTer6) c.3238_3239insTTCC (p.Arg1080LeufsTer6) c.3337_3338insTTCC (p.Arg1113LeufsTer6) c.3313_3314insTTCC (p.Arg1105LeufsTer6) c.3148_3149insTTCC (p.Arg1050LeufsTer6) c.3507_3508insTTCC (p.Ala1170PhefsTer?) c.3483_3484insTTCC (p.Ala1162PhefsTer?) c.3480_3481insTTCC (p.Ala1161PhefsTer?) c.3408_3409insTTCC (p.Ala1137PhefsTer?) c.3393_3394insTTCC (p.Ala1132PhefsTer?) c.3318_3319insTTCC (p.Ala1107PhefsTer?) | gnomAD v4 |
| 1 | g.16986240G>A | CA338231995 | ATP13A2 | c.3524C>T (p.Pro1175Leu) c.3222C>T (p.Ala1074=) c.3509C>T (p.Pro1170Leu) n.1570C>T c.942C>T (p.Ala314=) c.3354C>T (p.Ala1118=) c.3351C>T (p.Ala1117=) c.3339C>T (p.Ala1113=) c.3327C>T (p.Ala1109=) c.3294C>T (p.Ala1098=) c.3237C>T (p.Ala1079=) c.3336C>T (p.Ala1112=) c.3312C>T (p.Ala1104=) c.3147C>T (p.Ala1049=) c.3506C>T (p.Pro1169Leu) c.3482C>T (p.Pro1161Leu) c.3479C>T (p.Pro1160Leu) c.3407C>T (p.Pro1136Leu) c.3392C>T (p.Pro1131Leu) c.3317C>T (p.Pro1106Leu) | |
| 1 | g.16986240G>C | CA338231994 | ATP13A2 | c.3524C>G (p.Pro1175Arg) c.3222C>G (p.Ala1074=) c.3509C>G (p.Pro1170Arg) n.1570C>G c.942C>G (p.Ala314=) c.3354C>G (p.Ala1118=) c.3351C>G (p.Ala1117=) c.3339C>G (p.Ala1113=) c.3327C>G (p.Ala1109=) c.3294C>G (p.Ala1098=) c.3237C>G (p.Ala1079=) c.3336C>G (p.Ala1112=) c.3312C>G (p.Ala1104=) c.3147C>G (p.Ala1049=) c.3506C>G (p.Pro1169Arg) c.3482C>G (p.Pro1161Arg) c.3479C>G (p.Pro1160Arg) c.3407C>G (p.Pro1136Arg) c.3392C>G (p.Pro1131Arg) c.3317C>G (p.Pro1106Arg) | |
| 1 | g.16986240G= | CA1156049306 | ATP13A2 | c.3524C= (p.Pro1175=) c.3222C= (p.Ala1074=) c.3509C= (p.Pro1170=) n.1570C= c.942C= (p.Ala314=) c.3354C= (p.Ala1118=) c.3351C= (p.Ala1117=) c.3339C= (p.Ala1113=) c.3327C= (p.Ala1109=) c.3294C= (p.Ala1098=) c.3237C= (p.Ala1079=) c.3336C= (p.Ala1112=) c.3312C= (p.Ala1104=) c.3147C= (p.Ala1049=) c.3506C= (p.Pro1169=) c.3482C= (p.Pro1161=) c.3479C= (p.Pro1160=) c.3407C= (p.Pro1136=) c.3392C= (p.Pro1131=) c.3317C= (p.Pro1106=) | |
| 1 | g.16986240G>T | CA636460 | ATP13A2 | c.3524C>A (p.Pro1175His) c.3222C>A (p.Ala1074=) c.3509C>A (p.Pro1170His) n.1570C>A c.942C>A (p.Ala314=) c.3354C>A (p.Ala1118=) c.3351C>A (p.Ala1117=) c.3339C>A (p.Ala1113=) c.3327C>A (p.Ala1109=) c.3294C>A (p.Ala1098=) c.3237C>A (p.Ala1079=) c.3336C>A (p.Ala1112=) c.3312C>A (p.Ala1104=) c.3147C>A (p.Ala1049=) c.3506C>A (p.Pro1169His) c.3482C>A (p.Pro1161His) c.3479C>A (p.Pro1160His) c.3407C>A (p.Pro1136His) c.3392C>A (p.Pro1131His) c.3317C>A (p.Pro1106His) | dbSNP ExAC gnomAD v4 |
| 1 | g.16986241G>A | CA338231996 | ATP13A2 | c.3523C>T (p.Pro1175Ser) c.3221C>T (p.Ala1074Val) c.3508C>T (p.Pro1170Ser) n.1569C>T c.941C>T (p.Ala314Val) c.3353C>T (p.Ala1118Val) c.3350C>T (p.Ala1117Val) c.3338C>T (p.Ala1113Val) c.3326C>T (p.Ala1109Val) c.3293C>T (p.Ala1098Val) c.3236C>T (p.Ala1079Val) c.3335C>T (p.Ala1112Val) c.3311C>T (p.Ala1104Val) c.3146C>T (p.Ala1049Val) c.3505C>T (p.Pro1169Ser) c.3481C>T (p.Pro1161Ser) c.3478C>T (p.Pro1160Ser) c.3406C>T (p.Pro1136Ser) c.3391C>T (p.Pro1131Ser) c.3316C>T (p.Pro1106Ser) | |
| 1 | g.16986241G>C | CA338231997 | ATP13A2 | c.3523C>G (p.Pro1175Ala) c.3221C>G (p.Ala1074Gly) c.3508C>G (p.Pro1170Ala) n.1569C>G c.941C>G (p.Ala314Gly) c.3353C>G (p.Ala1118Gly) c.3350C>G (p.Ala1117Gly) c.3338C>G (p.Ala1113Gly) c.3326C>G (p.Ala1109Gly) c.3293C>G (p.Ala1098Gly) c.3236C>G (p.Ala1079Gly) c.3335C>G (p.Ala1112Gly) c.3311C>G (p.Ala1104Gly) c.3146C>G (p.Ala1049Gly) c.3505C>G (p.Pro1169Ala) c.3481C>G (p.Pro1161Ala) c.3478C>G (p.Pro1160Ala) c.3406C>G (p.Pro1136Ala) c.3391C>G (p.Pro1131Ala) c.3316C>G (p.Pro1106Ala) | |
| 1 | g.16986241G>T | CA338231998 | ATP13A2 | c.3523C>A (p.Pro1175Thr) c.3221C>A (p.Ala1074Asp) c.3508C>A (p.Pro1170Thr) n.1569C>A c.941C>A (p.Ala314Asp) c.3353C>A (p.Ala1118Asp) c.3350C>A (p.Ala1117Asp) c.3338C>A (p.Ala1113Asp) c.3326C>A (p.Ala1109Asp) c.3293C>A (p.Ala1098Asp) c.3236C>A (p.Ala1079Asp) c.3335C>A (p.Ala1112Asp) c.3311C>A (p.Ala1104Asp) c.3146C>A (p.Ala1049Asp) c.3505C>A (p.Pro1169Thr) c.3481C>A (p.Pro1161Thr) c.3478C>A (p.Pro1160Thr) c.3406C>A (p.Pro1136Thr) c.3391C>A (p.Pro1131Thr) c.3316C>A (p.Pro1106Thr) | gnomAD v4 |
| 1 | g.16986242C>A | CA338232002 | ATP13A2 | c.3522G>T (p.Leu1174=) c.3220G>T (p.Ala1074Ser) c.3507G>T (p.Leu1169=) n.1568G>T c.940G>T (p.Ala314Ser) c.3352G>T (p.Ala1118Ser) c.3349G>T (p.Ala1117Ser) c.3337G>T (p.Ala1113Ser) c.3325G>T (p.Ala1109Ser) c.3292G>T (p.Ala1098Ser) c.3235G>T (p.Ala1079Ser) c.3334G>T (p.Ala1112Ser) c.3310G>T (p.Ala1104Ser) c.3145G>T (p.Ala1049Ser) c.3504G>T (p.Leu1168=) c.3480G>T (p.Leu1160=) c.3477G>T (p.Leu1159=) c.3405G>T (p.Leu1135=) c.3390G>T (p.Leu1130=) c.3315G>T (p.Leu1105=) | gnomAD v4 |
| 1 | g.16986242C>G | CA338232004 | ATP13A2 | c.3522G>C (p.Leu1174=) c.3220G>C (p.Ala1074Pro) c.3507G>C (p.Leu1169=) n.1568G>C c.940G>C (p.Ala314Pro) c.3352G>C (p.Ala1118Pro) c.3349G>C (p.Ala1117Pro) c.3337G>C (p.Ala1113Pro) c.3325G>C (p.Ala1109Pro) c.3292G>C (p.Ala1098Pro) c.3235G>C (p.Ala1079Pro) c.3334G>C (p.Ala1112Pro) c.3310G>C (p.Ala1104Pro) c.3145G>C (p.Ala1049Pro) c.3504G>C (p.Leu1168=) c.3480G>C (p.Leu1160=) c.3477G>C (p.Leu1159=) c.3405G>C (p.Leu1135=) c.3390G>C (p.Leu1130=) c.3315G>C (p.Leu1105=) | |
| 1 | g.16986242C>T | CA338232007 | ATP13A2 | c.3522G>A (p.Leu1174=) c.3220G>A (p.Ala1074Thr) c.3507G>A (p.Leu1169=) n.1568G>A c.940G>A (p.Ala314Thr) c.3352G>A (p.Ala1118Thr) c.3349G>A (p.Ala1117Thr) c.3337G>A (p.Ala1113Thr) c.3325G>A (p.Ala1109Thr) c.3292G>A (p.Ala1098Thr) c.3235G>A (p.Ala1079Thr) c.3334G>A (p.Ala1112Thr) c.3310G>A (p.Ala1104Thr) c.3145G>A (p.Ala1049Thr) c.3504G>A (p.Leu1168=) c.3480G>A (p.Leu1160=) c.3477G>A (p.Leu1159=) c.3405G>A (p.Leu1135=) c.3390G>A (p.Leu1130=) c.3315G>A (p.Leu1105=) | gnomAD v4 |
| 1 | g.16986245_16986254dup | CA2643668396 | ATP13A2 | c.3513_3522dup (p.Pro1175AlafsTer?) c.3211_3220dup (p.Ala1074GlyfsTer9) c.3498_3507dup (p.Pro1170AlafsTer?) n.1559_1568dup c.931_940dup (p.Ala314GlyfsTer9) c.3343_3352dup (p.Ala1118GlyfsTer9) c.3340_3349dup (p.Ala1117GlyfsTer9) c.3328_3337dup (p.Ala1113GlyfsTer9) c.3316_3325dup (p.Ala1109GlyfsTer9) c.3283_3292dup (p.Ala1098GlyfsTer9) c.3226_3235dup (p.Ala1079GlyfsTer9) c.3325_3334dup (p.Ala1112GlyfsTer9) c.3301_3310dup (p.Ala1104GlyfsTer9) c.3136_3145dup (p.Ala1049GlyfsTer9) c.3495_3504dup (p.Pro1169AlafsTer?) c.3471_3480dup (p.Pro1161AlafsTer?) c.3468_3477dup (p.Pro1160AlafsTer?) c.3396_3405dup (p.Pro1136AlafsTer?) c.3381_3390dup (p.Pro1131AlafsTer?) c.3306_3315dup (p.Pro1106AlafsTer?) | gnomAD v4 |
| 1 | g.16986242_16986243insGCCCCCTTGG | CA2643668406 | ATP13A2 | c.3521_3522insCCAAGGGGGC (p.Pro1175GlnfsTer?) c.3219_3220insCCAAGGGGGC (p.Ala1074ProfsTer9) c.3506_3507insCCAAGGGGGC (p.Pro1170GlnfsTer?) n.1567_1568insCCAAGGGGGC c.939_940insCCAAGGGGGC (p.Ala314ProfsTer9) c.3351_3352insCCAAGGGGGC (p.Ala1118ProfsTer9) c.3348_3349insCCAAGGGGGC (p.Ala1117ProfsTer9) c.3336_3337insCCAAGGGGGC (p.Ala1113ProfsTer9) c.3324_3325insCCAAGGGGGC (p.Ala1109ProfsTer9) c.3291_3292insCCAAGGGGGC (p.Ala1098ProfsTer9) c.3234_3235insCCAAGGGGGC (p.Ala1079ProfsTer9) c.3333_3334insCCAAGGGGGC (p.Ala1112ProfsTer9) c.3309_3310insCCAAGGGGGC (p.Ala1104ProfsTer9) c.3144_3145insCCAAGGGGGC (p.Ala1049ProfsTer9) c.3503_3504insCCAAGGGGGC (p.Pro1169GlnfsTer?) c.3479_3480insCCAAGGGGGC (p.Pro1161GlnfsTer?) c.3476_3477insCCAAGGGGGC (p.Pro1160GlnfsTer?) c.3404_3405insCCAAGGGGGC (p.Pro1136GlnfsTer?) c.3389_3390insCCAAGGGGGC (p.Pro1131GlnfsTer?) c.3314_3315insCCAAGGGGGC (p.Pro1106GlnfsTer?) | gnomAD v4 |
| 1 | g.16986243A>C | CA338232009 | ATP13A2 | c.3521T>G (p.Leu1174Arg) c.3219T>G (p.Ala1073=) c.3506T>G (p.Leu1169Arg) n.1567T>G c.939T>G (p.Ala313=) c.3351T>G (p.Ala1117=) c.3348T>G (p.Ala1116=) c.3336T>G (p.Ala1112=) c.3324T>G (p.Ala1108=) c.3291T>G (p.Ala1097=) c.3234T>G (p.Ala1078=) c.3333T>G (p.Ala1111=) c.3309T>G (p.Ala1103=) c.3144T>G (p.Ala1048=) c.3503T>G (p.Leu1168Arg) c.3479T>G (p.Leu1160Arg) c.3476T>G (p.Leu1159Arg) c.3404T>G (p.Leu1135Arg) c.3389T>G (p.Leu1130Arg) c.3314T>G (p.Leu1105Arg) | |
| 1 | g.16986243A>G | CA338232010 | ATP13A2 | c.3521T>C (p.Leu1174Pro) c.3219T>C (p.Ala1073=) c.3506T>C (p.Leu1169Pro) n.1567T>C c.939T>C (p.Ala313=) c.3351T>C (p.Ala1117=) c.3348T>C (p.Ala1116=) c.3336T>C (p.Ala1112=) c.3324T>C (p.Ala1108=) c.3291T>C (p.Ala1097=) c.3234T>C (p.Ala1078=) c.3333T>C (p.Ala1111=) c.3309T>C (p.Ala1103=) c.3144T>C (p.Ala1048=) c.3503T>C (p.Leu1168Pro) c.3479T>C (p.Leu1160Pro) c.3476T>C (p.Leu1159Pro) c.3404T>C (p.Leu1135Pro) c.3389T>C (p.Leu1130Pro) c.3314T>C (p.Leu1105Pro) | |
| 1 | g.16986243A>T | CA338232011 | ATP13A2 | c.3521T>A (p.Leu1174Gln) c.3219T>A (p.Ala1073=) c.3506T>A (p.Leu1169Gln) n.1567T>A c.939T>A (p.Ala313=) c.3351T>A (p.Ala1117=) c.3348T>A (p.Ala1116=) c.3336T>A (p.Ala1112=) c.3324T>A (p.Ala1108=) c.3291T>A (p.Ala1097=) c.3234T>A (p.Ala1078=) c.3333T>A (p.Ala1111=) c.3309T>A (p.Ala1103=) c.3144T>A (p.Ala1048=) c.3503T>A (p.Leu1168Gln) c.3479T>A (p.Leu1160Gln) c.3476T>A (p.Leu1159Gln) c.3404T>A (p.Leu1135Gln) c.3389T>A (p.Leu1130Gln) c.3314T>A (p.Leu1105Gln) | |
| 1 | g.16986244G>A | CA338232012 | ATP13A2 | c.3520C>T (p.Leu1174=) c.3218C>T (p.Ala1073Val) c.3505C>T (p.Leu1169=) n.1566C>T c.938C>T (p.Ala313Val) c.3350C>T (p.Ala1117Val) c.3347C>T (p.Ala1116Val) c.3335C>T (p.Ala1112Val) c.3323C>T (p.Ala1108Val) c.3290C>T (p.Ala1097Val) c.3233C>T (p.Ala1078Val) c.3332C>T (p.Ala1111Val) c.3308C>T (p.Ala1103Val) c.3143C>T (p.Ala1048Val) c.3502C>T (p.Leu1168=) c.3478C>T (p.Leu1160=) c.3475C>T (p.Leu1159=) c.3403C>T (p.Leu1135=) c.3388C>T (p.Leu1130=) c.3313C>T (p.Leu1105=) | gnomAD v4 |
| 1 | g.16986244G>C | CA338232013 | ATP13A2 | c.3520C>G (p.Leu1174Val) c.3218C>G (p.Ala1073Gly) c.3505C>G (p.Leu1169Val) n.1566C>G c.938C>G (p.Ala313Gly) c.3350C>G (p.Ala1117Gly) c.3347C>G (p.Ala1116Gly) c.3335C>G (p.Ala1112Gly) c.3323C>G (p.Ala1108Gly) c.3290C>G (p.Ala1097Gly) c.3233C>G (p.Ala1078Gly) c.3332C>G (p.Ala1111Gly) c.3308C>G (p.Ala1103Gly) c.3143C>G (p.Ala1048Gly) c.3502C>G (p.Leu1168Val) c.3478C>G (p.Leu1160Val) c.3475C>G (p.Leu1159Val) c.3403C>G (p.Leu1135Val) c.3388C>G (p.Leu1130Val) c.3313C>G (p.Leu1105Val) | |
| 1 | g.16986244G>T | CA338232015 | ATP13A2 | c.3520C>A (p.Leu1174Met) c.3218C>A (p.Ala1073Asp) c.3505C>A (p.Leu1169Met) n.1566C>A c.938C>A (p.Ala313Asp) c.3350C>A (p.Ala1117Asp) c.3347C>A (p.Ala1116Asp) c.3335C>A (p.Ala1112Asp) c.3323C>A (p.Ala1108Asp) c.3290C>A (p.Ala1097Asp) c.3233C>A (p.Ala1078Asp) c.3332C>A (p.Ala1111Asp) c.3308C>A (p.Ala1103Asp) c.3143C>A (p.Ala1048Asp) c.3502C>A (p.Leu1168Met) c.3478C>A (p.Leu1160Met) c.3475C>A (p.Leu1159Met) c.3403C>A (p.Leu1135Met) c.3388C>A (p.Leu1130Met) c.3313C>A (p.Leu1105Met) | |
| 1 | g.16986245C>A | CA338232019 | ATP13A2 | c.3519G>T (p.Pro1173=) c.3217G>T (p.Ala1073Ser) c.3504G>T (p.Pro1168=) n.1565G>T c.937G>T (p.Ala313Ser) c.3349G>T (p.Ala1117Ser) c.3346G>T (p.Ala1116Ser) c.3334G>T (p.Ala1112Ser) c.3322G>T (p.Ala1108Ser) c.3289G>T (p.Ala1097Ser) c.3232G>T (p.Ala1078Ser) c.3331G>T (p.Ala1111Ser) c.3307G>T (p.Ala1103Ser) c.3142G>T (p.Ala1048Ser) c.3501G>T (p.Pro1167=) c.3477G>T (p.Pro1159=) c.3474G>T (p.Pro1158=) c.3402G>T (p.Pro1134=) c.3387G>T (p.Pro1129=) c.3312G>T (p.Pro1104=) | dbSNP |
| 1 | g.16986245C= | CA1156049310 | ATP13A2 | c.3519G= (p.Pro1173=) c.3217G= (p.Ala1073=) c.3504G= (p.Pro1168=) n.1565G= c.937G= (p.Ala313=) c.3349G= (p.Ala1117=) c.3346G= (p.Ala1116=) c.3334G= (p.Ala1112=) c.3322G= (p.Ala1108=) c.3289G= (p.Ala1097=) c.3232G= (p.Ala1078=) c.3331G= (p.Ala1111=) c.3307G= (p.Ala1103=) c.3142G= (p.Ala1048=) c.3501G= (p.Pro1167=) c.3477G= (p.Pro1159=) c.3474G= (p.Pro1158=) c.3402G= (p.Pro1134=) c.3387G= (p.Pro1129=) c.3312G= (p.Pro1104=) | |
| 1 | g.16986245C>G | CA338232024 | ATP13A2 | c.3519G>C (p.Pro1173=) c.3217G>C (p.Ala1073Pro) c.3504G>C (p.Pro1168=) n.1565G>C c.937G>C (p.Ala313Pro) c.3349G>C (p.Ala1117Pro) c.3346G>C (p.Ala1116Pro) c.3334G>C (p.Ala1112Pro) c.3322G>C (p.Ala1108Pro) c.3289G>C (p.Ala1097Pro) c.3232G>C (p.Ala1078Pro) c.3331G>C (p.Ala1111Pro) c.3307G>C (p.Ala1103Pro) c.3142G>C (p.Ala1048Pro) c.3501G>C (p.Pro1167=) c.3477G>C (p.Pro1159=) c.3474G>C (p.Pro1158=) c.3402G>C (p.Pro1134=) c.3387G>C (p.Pro1129=) c.3312G>C (p.Pro1104=) | |
| 1 | g.16986245C>T | CA636461 | ATP13A2 | c.3519G>A (p.Pro1173=) c.3217G>A (p.Ala1073Thr) c.3504G>A (p.Pro1168=) n.1565G>A c.937G>A (p.Ala313Thr) c.3349G>A (p.Ala1117Thr) c.3346G>A (p.Ala1116Thr) c.3334G>A (p.Ala1112Thr) c.3322G>A (p.Ala1108Thr) c.3289G>A (p.Ala1097Thr) c.3232G>A (p.Ala1078Thr) c.3331G>A (p.Ala1111Thr) c.3307G>A (p.Ala1103Thr) c.3142G>A (p.Ala1048Thr) c.3501G>A (p.Pro1167=) c.3477G>A (p.Pro1159=) c.3474G>A (p.Pro1158=) c.3402G>A (p.Pro1134=) c.3387G>A (p.Pro1129=) c.3312G>A (p.Pro1104=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16986246G>A | CA636462 | ATP13A2 | c.3518C>T (p.Pro1173Leu) c.3216C>T (p.Ala1072=) c.3503C>T (p.Pro1168Leu) n.1564C>T c.936C>T (p.Ala312=) c.3348C>T (p.Ala1116=) c.3345C>T (p.Ala1115=) c.3333C>T (p.Ala1111=) c.3321C>T (p.Ala1107=) c.3288C>T (p.Ala1096=) c.3231C>T (p.Ala1077=) c.3330C>T (p.Ala1110=) c.3306C>T (p.Ala1102=) c.3141C>T (p.Ala1047=) c.3500C>T (p.Pro1167Leu) c.3476C>T (p.Pro1159Leu) c.3473C>T (p.Pro1158Leu) c.3401C>T (p.Pro1134Leu) c.3386C>T (p.Pro1129Leu) c.3311C>T (p.Pro1104Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |