UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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.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 |
| 1 | g.16986246G>C | CA338232038 | ATP13A2 | c.3518C>G (p.Pro1173Arg) c.3216C>G (p.Ala1072=) c.3503C>G (p.Pro1168Arg) n.1564C>G c.936C>G (p.Ala312=) c.3348C>G (p.Ala1116=) c.3345C>G (p.Ala1115=) c.3333C>G (p.Ala1111=) c.3321C>G (p.Ala1107=) c.3288C>G (p.Ala1096=) c.3231C>G (p.Ala1077=) c.3330C>G (p.Ala1110=) c.3306C>G (p.Ala1102=) c.3141C>G (p.Ala1047=) c.3500C>G (p.Pro1167Arg) c.3476C>G (p.Pro1159Arg) c.3473C>G (p.Pro1158Arg) c.3401C>G (p.Pro1134Arg) c.3386C>G (p.Pro1129Arg) c.3311C>G (p.Pro1104Arg) | dbSNP |
| 1 | g.16986246G= | CA1143898417 | ATP13A2 | c.3518C= (p.Pro1173=) c.3216C= (p.Ala1072=) c.3503C= (p.Pro1168=) n.1564C= c.936C= (p.Ala312=) c.3348C= (p.Ala1116=) c.3345C= (p.Ala1115=) c.3333C= (p.Ala1111=) c.3321C= (p.Ala1107=) c.3288C= (p.Ala1096=) c.3231C= (p.Ala1077=) c.3330C= (p.Ala1110=) c.3306C= (p.Ala1102=) c.3141C= (p.Ala1047=) c.3500C= (p.Pro1167=) c.3476C= (p.Pro1159=) c.3473C= (p.Pro1158=) c.3401C= (p.Pro1134=) c.3386C= (p.Pro1129=) c.3311C= (p.Pro1104=) | |
| 1 | g.16986246G>T | CA338232040 | ATP13A2 | c.3518C>A (p.Pro1173Gln) c.3216C>A (p.Ala1072=) c.3503C>A (p.Pro1168Gln) n.1564C>A c.936C>A (p.Ala312=) c.3348C>A (p.Ala1116=) c.3345C>A (p.Ala1115=) c.3333C>A (p.Ala1111=) c.3321C>A (p.Ala1107=) c.3288C>A (p.Ala1096=) c.3231C>A (p.Ala1077=) c.3330C>A (p.Ala1110=) c.3306C>A (p.Ala1102=) c.3141C>A (p.Ala1047=) c.3500C>A (p.Pro1167Gln) c.3476C>A (p.Pro1159Gln) c.3473C>A (p.Pro1158Gln) c.3401C>A (p.Pro1134Gln) c.3386C>A (p.Pro1129Gln) c.3311C>A (p.Pro1104Gln) | dbSNP gnomAD v4 |
| 1 | g.16986247G>A | CA338232047 | ATP13A2 | c.3517C>T (p.Pro1173Ser) c.3215C>T (p.Ala1072Val) c.3502C>T (p.Pro1168Ser) n.1563C>T c.935C>T (p.Ala312Val) c.3347C>T (p.Ala1116Val) c.3344C>T (p.Ala1115Val) c.3332C>T (p.Ala1111Val) c.3320C>T (p.Ala1107Val) c.3287C>T (p.Ala1096Val) c.3230C>T (p.Ala1077Val) c.3329C>T (p.Ala1110Val) c.3305C>T (p.Ala1102Val) c.3140C>T (p.Ala1047Val) c.3499C>T (p.Pro1167Ser) c.3475C>T (p.Pro1159Ser) c.3472C>T (p.Pro1158Ser) c.3400C>T (p.Pro1134Ser) c.3385C>T (p.Pro1129Ser) c.3310C>T (p.Pro1104Ser) | COSMIC COSMIC |
| 1 | g.16986247G>C | CA338232048 | ATP13A2 | c.3517C>G (p.Pro1173Ala) c.3215C>G (p.Ala1072Gly) c.3502C>G (p.Pro1168Ala) n.1563C>G c.935C>G (p.Ala312Gly) c.3347C>G (p.Ala1116Gly) c.3344C>G (p.Ala1115Gly) c.3332C>G (p.Ala1111Gly) c.3320C>G (p.Ala1107Gly) c.3287C>G (p.Ala1096Gly) c.3230C>G (p.Ala1077Gly) c.3329C>G (p.Ala1110Gly) c.3305C>G (p.Ala1102Gly) c.3140C>G (p.Ala1047Gly) c.3499C>G (p.Pro1167Ala) c.3475C>G (p.Pro1159Ala) c.3472C>G (p.Pro1158Ala) c.3400C>G (p.Pro1134Ala) c.3385C>G (p.Pro1129Ala) c.3310C>G (p.Pro1104Ala) | |
| 1 | g.16986247G= | CA1156049321 | ATP13A2 | c.3517C= (p.Pro1173=) c.3215C= (p.Ala1072=) c.3502C= (p.Pro1168=) n.1563C= c.935C= (p.Ala312=) c.3347C= (p.Ala1116=) c.3344C= (p.Ala1115=) c.3332C= (p.Ala1111=) c.3320C= (p.Ala1107=) c.3287C= (p.Ala1096=) c.3230C= (p.Ala1077=) c.3329C= (p.Ala1110=) c.3305C= (p.Ala1102=) c.3140C= (p.Ala1047=) c.3499C= (p.Pro1167=) c.3475C= (p.Pro1159=) c.3472C= (p.Pro1158=) c.3400C= (p.Pro1134=) c.3385C= (p.Pro1129=) c.3310C= (p.Pro1104=) | |
| 1 | g.16986247G>T | CA338232050 | ATP13A2 | c.3517C>A (p.Pro1173Thr) c.3215C>A (p.Ala1072Asp) c.3502C>A (p.Pro1168Thr) n.1563C>A c.935C>A (p.Ala312Asp) c.3347C>A (p.Ala1116Asp) c.3344C>A (p.Ala1115Asp) c.3332C>A (p.Ala1111Asp) c.3320C>A (p.Ala1107Asp) c.3287C>A (p.Ala1096Asp) c.3230C>A (p.Ala1077Asp) c.3329C>A (p.Ala1110Asp) c.3305C>A (p.Ala1102Asp) c.3140C>A (p.Ala1047Asp) c.3499C>A (p.Pro1167Thr) c.3475C>A (p.Pro1159Thr) c.3472C>A (p.Pro1158Thr) c.3400C>A (p.Pro1134Thr) c.3385C>A (p.Pro1129Thr) c.3310C>A (p.Pro1104Thr) | |
| 1 | g.16986247_16986257delinsGCGGCCAGGGC | CA1156049323 | ATP13A2 | c.3507_3517delinsGCCCTGGCCGC (p.Gln1169=) c.3205_3215delinsGCCCTGGCCGC (p.Ala1069=) c.3492_3502delinsGCCCTGGCCGC (p.Gln1164=) n.1553_1563delinsGCCCTGGCCGC c.925_935delinsGCCCTGGCCGC (p.Ala309=) c.3337_3347delinsGCCCTGGCCGC (p.Ala1113=) c.3334_3344delinsGCCCTGGCCGC (p.Ala1112=) c.3322_3332delinsGCCCTGGCCGC (p.Ala1108=) c.3310_3320delinsGCCCTGGCCGC (p.Ala1104=) c.3277_3287delinsGCCCTGGCCGC (p.Ala1093=) c.3220_3230delinsGCCCTGGCCGC (p.Ala1074=) c.3319_3329delinsGCCCTGGCCGC (p.Ala1107=) c.3295_3305delinsGCCCTGGCCGC (p.Ala1099=) c.3130_3140delinsGCCCTGGCCGC (p.Ala1044=) c.3489_3499delinsGCCCTGGCCGC (p.Gln1163=) c.3465_3475delinsGCCCTGGCCGC (p.Gln1155=) c.3462_3472delinsGCCCTGGCCGC (p.Gln1154=) c.3390_3400delinsGCCCTGGCCGC (p.Gln1130=) c.3375_3385delinsGCCCTGGCCGC (p.Gln1125=) c.3300_3310delinsGCCCTGGCCGC (p.Gln1100=) | |
| 1 | g.16986248C>A | CA338232074 | ATP13A2 | c.3516G>T (p.Pro1172=) c.3214G>T (p.Ala1072Ser) c.3501G>T (p.Pro1167=) n.1562G>T c.934G>T (p.Ala312Ser) c.3346G>T (p.Ala1116Ser) c.3343G>T (p.Ala1115Ser) c.3331G>T (p.Ala1111Ser) c.3319G>T (p.Ala1107Ser) c.3286G>T (p.Ala1096Ser) c.3229G>T (p.Ala1077Ser) c.3328G>T (p.Ala1110Ser) c.3304G>T (p.Ala1102Ser) c.3139G>T (p.Ala1047Ser) c.3498G>T (p.Pro1166=) c.3474G>T (p.Pro1158=) c.3471G>T (p.Pro1157=) c.3399G>T (p.Pro1133=) c.3384G>T (p.Pro1128=) c.3309G>T (p.Pro1103=) | gnomAD v4 |
| 1 | g.16986248C= | CA1139988465 | ATP13A2 | c.3516G= (p.Pro1172=) c.3214G= (p.Ala1072=) c.3501G= (p.Pro1167=) n.1562G= c.934G= (p.Ala312=) c.3346G= (p.Ala1116=) c.3343G= (p.Ala1115=) c.3331G= (p.Ala1111=) c.3319G= (p.Ala1107=) c.3286G= (p.Ala1096=) c.3229G= (p.Ala1077=) c.3328G= (p.Ala1110=) c.3304G= (p.Ala1102=) c.3139G= (p.Ala1047=) c.3498G= (p.Pro1166=) c.3474G= (p.Pro1158=) c.3471G= (p.Pro1157=) c.3399G= (p.Pro1133=) c.3384G= (p.Pro1128=) c.3309G= (p.Pro1103=) | |
| 1 | g.16986248C>G | CA338232073 | ATP13A2 | c.3516G>C (p.Pro1172=) c.3214G>C (p.Ala1072Pro) c.3501G>C (p.Pro1167=) n.1562G>C c.934G>C (p.Ala312Pro) c.3346G>C (p.Ala1116Pro) c.3343G>C (p.Ala1115Pro) c.3331G>C (p.Ala1111Pro) c.3319G>C (p.Ala1107Pro) c.3286G>C (p.Ala1096Pro) c.3229G>C (p.Ala1077Pro) c.3328G>C (p.Ala1110Pro) c.3304G>C (p.Ala1102Pro) c.3139G>C (p.Ala1047Pro) c.3498G>C (p.Pro1166=) c.3474G>C (p.Pro1158=) c.3471G>C (p.Pro1157=) c.3399G>C (p.Pro1133=) c.3384G>C (p.Pro1128=) c.3309G>C (p.Pro1103=) | dbSNP |
| 1 | g.16986248C>T | CA151963 | ATP13A2 | c.3516G>A (p.Pro1172=) c.3214G>A (p.Ala1072Thr) c.3501G>A (p.Pro1167=) n.1562G>A c.934G>A (p.Ala312Thr) c.3346G>A (p.Ala1116Thr) c.3343G>A (p.Ala1115Thr) c.3331G>A (p.Ala1111Thr) c.3319G>A (p.Ala1107Thr) c.3286G>A (p.Ala1096Thr) c.3229G>A (p.Ala1077Thr) c.3328G>A (p.Ala1110Thr) c.3304G>A (p.Ala1102Thr) c.3139G>A (p.Ala1047Thr) c.3498G>A (p.Pro1166=) c.3474G>A (p.Pro1158=) c.3471G>A (p.Pro1157=) c.3399G>A (p.Pro1133=) c.3384G>A (p.Pro1128=) c.3309G>A (p.Pro1103=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16986248_16986257del | CA999085017 | ATP13A2 | c.3507_3516del (p.Gln1169HisfsTer8) c.3205_3214del (p.Ala1069ProfsTer9) c.3492_3501del (p.Gln1164HisfsTer8) n.1553_1562del c.925_934del (p.Ala309ProfsTer9) c.3337_3346del (p.Ala1113ProfsTer9) c.3334_3343del (p.Ala1112ProfsTer9) c.3322_3331del (p.Ala1108ProfsTer9) c.3310_3319del (p.Ala1104ProfsTer9) c.3277_3286del (p.Ala1093ProfsTer9) c.3220_3229del (p.Ala1074ProfsTer9) c.3319_3328del (p.Ala1107ProfsTer9) c.3295_3304del (p.Ala1099ProfsTer9) c.3130_3139del (p.Ala1044ProfsTer9) c.3489_3498del (p.Gln1163HisfsTer8) c.3465_3474del (p.Gln1155HisfsTer8) c.3462_3471del (p.Gln1154HisfsTer8) c.3390_3399del (p.Gln1130HisfsTer8) c.3375_3384del (p.Gln1125HisfsTer8) c.3300_3309del (p.Gln1100HisfsTer8) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.16986255_16986268dup | CA636463 | ATP13A2 | c.3503_3516dup (p.Pro1173SerfsTer12) c.3201_3214dup (p.Ala1072GlufsTer14) c.3488_3501dup (p.Pro1168SerfsTer12) n.1549_1562dup c.921_934dup (p.Ala312GlufsTer14) c.3333_3346dup (p.Ala1116GlufsTer14) c.3330_3343dup (p.Ala1115GlufsTer14) c.3318_3331dup (p.Ala1111GlufsTer14) c.3306_3319dup (p.Ala1107GlufsTer14) c.3273_3286dup (p.Ala1096GlufsTer14) c.3216_3229dup (p.Ala1077GlufsTer14) c.3315_3328dup (p.Ala1110GlufsTer14) c.3291_3304dup (p.Ala1102GlufsTer14) c.3126_3139dup (p.Ala1047GlufsTer14) c.3485_3498dup (p.Pro1167SerfsTer12) c.3461_3474dup (p.Pro1159SerfsTer12) c.3458_3471dup (p.Pro1158SerfsTer12) c.3386_3399dup (p.Pro1134SerfsTer12) c.3371_3384dup (p.Pro1129SerfsTer12) c.3296_3309dup (p.Pro1104SerfsTer12) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16986249G>A | CA636464 | ATP13A2 | c.3515C>T (p.Pro1172Leu) c.3213C>T (p.Ala1071=) c.3500C>T (p.Pro1167Leu) n.1561C>T c.933C>T (p.Ala311=) c.3345C>T (p.Ala1115=) c.3342C>T (p.Ala1114=) c.3330C>T (p.Ala1110=) c.3318C>T (p.Ala1106=) c.3285C>T (p.Ala1095=) c.3228C>T (p.Ala1076=) c.3327C>T (p.Ala1109=) c.3303C>T (p.Ala1101=) c.3138C>T (p.Ala1046=) c.3497C>T (p.Pro1166Leu) c.3473C>T (p.Pro1158Leu) c.3470C>T (p.Pro1157Leu) c.3398C>T (p.Pro1133Leu) c.3383C>T (p.Pro1128Leu) c.3308C>T (p.Pro1103Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.16986249G>C | CA338232075 | ATP13A2 | c.3515C>G (p.Pro1172Arg) c.3213C>G (p.Ala1071=) c.3500C>G (p.Pro1167Arg) n.1561C>G c.933C>G (p.Ala311=) c.3345C>G (p.Ala1115=) c.3342C>G (p.Ala1114=) c.3330C>G (p.Ala1110=) c.3318C>G (p.Ala1106=) c.3285C>G (p.Ala1095=) c.3228C>G (p.Ala1076=) c.3327C>G (p.Ala1109=) c.3303C>G (p.Ala1101=) c.3138C>G (p.Ala1046=) c.3497C>G (p.Pro1166Arg) c.3473C>G (p.Pro1158Arg) c.3470C>G (p.Pro1157Arg) c.3398C>G (p.Pro1133Arg) c.3383C>G (p.Pro1128Arg) c.3308C>G (p.Pro1103Arg) | |
| 1 | g.16986249G= | CA1156049330 | ATP13A2 | c.3515C= (p.Pro1172=) c.3213C= (p.Ala1071=) c.3500C= (p.Pro1167=) n.1561C= c.933C= (p.Ala311=) c.3345C= (p.Ala1115=) c.3342C= (p.Ala1114=) c.3330C= (p.Ala1110=) c.3318C= (p.Ala1106=) c.3285C= (p.Ala1095=) c.3228C= (p.Ala1076=) c.3327C= (p.Ala1109=) c.3303C= (p.Ala1101=) c.3138C= (p.Ala1046=) c.3497C= (p.Pro1166=) c.3473C= (p.Pro1158=) c.3470C= (p.Pro1157=) c.3398C= (p.Pro1133=) c.3383C= (p.Pro1128=) c.3308C= (p.Pro1103=) | |
| 1 | g.16986249G>T | CA338232076 | ATP13A2 | c.3515C>A (p.Pro1172Gln) c.3213C>A (p.Ala1071=) c.3500C>A (p.Pro1167Gln) n.1561C>A c.933C>A (p.Ala311=) c.3345C>A (p.Ala1115=) c.3342C>A (p.Ala1114=) c.3330C>A (p.Ala1110=) c.3318C>A (p.Ala1106=) c.3285C>A (p.Ala1095=) c.3228C>A (p.Ala1076=) c.3327C>A (p.Ala1109=) c.3303C>A (p.Ala1101=) c.3138C>A (p.Ala1046=) c.3497C>A (p.Pro1166Gln) c.3473C>A (p.Pro1158Gln) c.3470C>A (p.Pro1157Gln) c.3398C>A (p.Pro1133Gln) c.3383C>A (p.Pro1128Gln) c.3308C>A (p.Pro1103Gln) | gnomAD v4 |
| 1 | g.16986250G>A | CA338232078 | ATP13A2 | c.3514C>T (p.Pro1172Ser) c.3212C>T (p.Ala1071Val) c.3499C>T (p.Pro1167Ser) n.1560C>T c.932C>T (p.Ala311Val) c.3344C>T (p.Ala1115Val) c.3341C>T (p.Ala1114Val) c.3329C>T (p.Ala1110Val) c.3317C>T (p.Ala1106Val) c.3284C>T (p.Ala1095Val) c.3227C>T (p.Ala1076Val) c.3326C>T (p.Ala1109Val) c.3302C>T (p.Ala1101Val) c.3137C>T (p.Ala1046Val) c.3496C>T (p.Pro1166Ser) c.3472C>T (p.Pro1158Ser) c.3469C>T (p.Pro1157Ser) c.3397C>T (p.Pro1133Ser) c.3382C>T (p.Pro1128Ser) c.3307C>T (p.Pro1103Ser) | |
| 1 | g.16986250G>C | CA338232090 | ATP13A2 | c.3514C>G (p.Pro1172Ala) c.3212C>G (p.Ala1071Gly) c.3499C>G (p.Pro1167Ala) n.1560C>G c.932C>G (p.Ala311Gly) c.3344C>G (p.Ala1115Gly) c.3341C>G (p.Ala1114Gly) c.3329C>G (p.Ala1110Gly) c.3317C>G (p.Ala1106Gly) c.3284C>G (p.Ala1095Gly) c.3227C>G (p.Ala1076Gly) c.3326C>G (p.Ala1109Gly) c.3302C>G (p.Ala1101Gly) c.3137C>G (p.Ala1046Gly) c.3496C>G (p.Pro1166Ala) c.3472C>G (p.Pro1158Ala) c.3469C>G (p.Pro1157Ala) c.3397C>G (p.Pro1133Ala) c.3382C>G (p.Pro1128Ala) c.3307C>G (p.Pro1103Ala) | |
| 1 | g.16986250G>T | CA338232087 | ATP13A2 | c.3514C>A (p.Pro1172Thr) c.3212C>A (p.Ala1071Asp) c.3499C>A (p.Pro1167Thr) n.1560C>A c.932C>A (p.Ala311Asp) c.3344C>A (p.Ala1115Asp) c.3341C>A (p.Ala1114Asp) c.3329C>A (p.Ala1110Asp) c.3317C>A (p.Ala1106Asp) c.3284C>A (p.Ala1095Asp) c.3227C>A (p.Ala1076Asp) c.3326C>A (p.Ala1109Asp) c.3302C>A (p.Ala1101Asp) c.3137C>A (p.Ala1046Asp) c.3496C>A (p.Pro1166Thr) c.3472C>A (p.Pro1158Thr) c.3469C>A (p.Pro1157Thr) c.3397C>A (p.Pro1133Thr) c.3382C>A (p.Pro1128Thr) c.3307C>A (p.Pro1103Thr) | |
| 1 | g.16986251C>A | CA338232092 | ATP13A2 | c.3513G>T (p.Trp1171Cys) c.3211G>T (p.Ala1071Ser) c.3498G>T (p.Trp1166Cys) n.1559G>T c.931G>T (p.Ala311Ser) c.3343G>T (p.Ala1115Ser) c.3340G>T (p.Ala1114Ser) c.3328G>T (p.Ala1110Ser) c.3316G>T (p.Ala1106Ser) c.3283G>T (p.Ala1095Ser) c.3226G>T (p.Ala1076Ser) c.3325G>T (p.Ala1109Ser) c.3301G>T (p.Ala1101Ser) c.3136G>T (p.Ala1046Ser) c.3495G>T (p.Trp1165Cys) c.3471G>T (p.Trp1157Cys) c.3468G>T (p.Trp1156Cys) c.3396G>T (p.Trp1132Cys) c.3381G>T (p.Trp1127Cys) c.3306G>T (p.Trp1102Cys) | |
| 1 | g.16986251C>G | CA338232096 | ATP13A2 | c.3513G>C (p.Trp1171Cys) c.3211G>C (p.Ala1071Pro) c.3498G>C (p.Trp1166Cys) n.1559G>C c.931G>C (p.Ala311Pro) c.3343G>C (p.Ala1115Pro) c.3340G>C (p.Ala1114Pro) c.3328G>C (p.Ala1110Pro) c.3316G>C (p.Ala1106Pro) c.3283G>C (p.Ala1095Pro) c.3226G>C (p.Ala1076Pro) c.3325G>C (p.Ala1109Pro) c.3301G>C (p.Ala1101Pro) c.3136G>C (p.Ala1046Pro) c.3495G>C (p.Trp1165Cys) c.3471G>C (p.Trp1157Cys) c.3468G>C (p.Trp1156Cys) c.3396G>C (p.Trp1132Cys) c.3381G>C (p.Trp1127Cys) c.3306G>C (p.Trp1102Cys) | |
| 1 | g.16986251C>T | CA338232093 | ATP13A2 | c.3513G>A (p.Trp1171Ter) c.3211G>A (p.Ala1071Thr) c.3498G>A (p.Trp1166Ter) n.1559G>A c.931G>A (p.Ala311Thr) c.3343G>A (p.Ala1115Thr) c.3340G>A (p.Ala1114Thr) c.3328G>A (p.Ala1110Thr) c.3316G>A (p.Ala1106Thr) c.3283G>A (p.Ala1095Thr) c.3226G>A (p.Ala1076Thr) c.3325G>A (p.Ala1109Thr) c.3301G>A (p.Ala1101Thr) c.3136G>A (p.Ala1046Thr) c.3495G>A (p.Trp1165Ter) c.3471G>A (p.Trp1157Ter) c.3468G>A (p.Trp1156Ter) c.3396G>A (p.Trp1132Ter) c.3381G>A (p.Trp1127Ter) c.3306G>A (p.Trp1102Ter) | |
| 1 | g.16986252C>A | CA338232098 | ATP13A2 | c.3512G>T (p.Trp1171Leu) c.3210G>T (p.Leu1070=) c.3497G>T (p.Trp1166Leu) n.1558G>T c.930G>T (p.Leu310=) c.3342G>T (p.Leu1114=) c.3339G>T (p.Leu1113=) c.3327G>T (p.Leu1109=) c.3315G>T (p.Leu1105=) c.3282G>T (p.Leu1094=) c.3225G>T (p.Leu1075=) c.3324G>T (p.Leu1108=) c.3300G>T (p.Leu1100=) c.3135G>T (p.Leu1045=) c.3494G>T (p.Trp1165Leu) c.3470G>T (p.Trp1157Leu) c.3467G>T (p.Trp1156Leu) c.3395G>T (p.Trp1132Leu) c.3380G>T (p.Trp1127Leu) c.3305G>T (p.Trp1102Leu) | |
| 1 | g.16986252C= | CA1156049339 | ATP13A2 | c.3512G= (p.Trp1171=) c.3210G= (p.Leu1070=) c.3497G= (p.Trp1166=) n.1558G= c.930G= (p.Leu310=) c.3342G= (p.Leu1114=) c.3339G= (p.Leu1113=) c.3327G= (p.Leu1109=) c.3315G= (p.Leu1105=) c.3282G= (p.Leu1094=) c.3225G= (p.Leu1075=) c.3324G= (p.Leu1108=) c.3300G= (p.Leu1100=) c.3135G= (p.Leu1045=) c.3494G= (p.Trp1165=) c.3470G= (p.Trp1157=) c.3467G= (p.Trp1156=) c.3395G= (p.Trp1132=) c.3380G= (p.Trp1127=) c.3305G= (p.Trp1102=) | |
| 1 | g.16986252C>G | CA338232099 | ATP13A2 | c.3512G>C (p.Trp1171Ser) c.3210G>C (p.Leu1070=) c.3497G>C (p.Trp1166Ser) n.1558G>C c.930G>C (p.Leu310=) c.3342G>C (p.Leu1114=) c.3339G>C (p.Leu1113=) c.3327G>C (p.Leu1109=) c.3315G>C (p.Leu1105=) c.3282G>C (p.Leu1094=) c.3225G>C (p.Leu1075=) c.3324G>C (p.Leu1108=) c.3300G>C (p.Leu1100=) c.3135G>C (p.Leu1045=) c.3494G>C (p.Trp1165Ser) c.3470G>C (p.Trp1157Ser) c.3467G>C (p.Trp1156Ser) c.3395G>C (p.Trp1132Ser) c.3380G>C (p.Trp1127Ser) c.3305G>C (p.Trp1102Ser) | dbSNP gnomAD v2 |
| 1 | g.16986252C>T | CA338232101 | ATP13A2 | c.3512G>A (p.Trp1171Ter) c.3210G>A (p.Leu1070=) c.3497G>A (p.Trp1166Ter) n.1558G>A c.930G>A (p.Leu310=) c.3342G>A (p.Leu1114=) c.3339G>A (p.Leu1113=) c.3327G>A (p.Leu1109=) c.3315G>A (p.Leu1105=) c.3282G>A (p.Leu1094=) c.3225G>A (p.Leu1075=) c.3324G>A (p.Leu1108=) c.3300G>A (p.Leu1100=) c.3135G>A (p.Leu1045=) c.3494G>A (p.Trp1165Ter) c.3470G>A (p.Trp1157Ter) c.3467G>A (p.Trp1156Ter) c.3395G>A (p.Trp1132Ter) c.3380G>A (p.Trp1127Ter) c.3305G>A (p.Trp1102Ter) | |
| 1 | g.16986253A>C | CA338232104 | ATP13A2 | c.3511T>G (p.Trp1171Gly) c.3209T>G (p.Leu1070Arg) c.3496T>G (p.Trp1166Gly) n.1557T>G c.929T>G (p.Leu310Arg) c.3341T>G (p.Leu1114Arg) c.3338T>G (p.Leu1113Arg) c.3326T>G (p.Leu1109Arg) c.3314T>G (p.Leu1105Arg) c.3281T>G (p.Leu1094Arg) c.3224T>G (p.Leu1075Arg) c.3323T>G (p.Leu1108Arg) c.3299T>G (p.Leu1100Arg) c.3134T>G (p.Leu1045Arg) c.3493T>G (p.Trp1165Gly) c.3469T>G (p.Trp1157Gly) c.3466T>G (p.Trp1156Gly) c.3394T>G (p.Trp1132Gly) c.3379T>G (p.Trp1127Gly) c.3304T>G (p.Trp1102Gly) | |
| 1 | g.16986253A>G | CA338232106 | ATP13A2 | c.3511T>C (p.Trp1171Arg) c.3209T>C (p.Leu1070Pro) c.3496T>C (p.Trp1166Arg) n.1557T>C c.929T>C (p.Leu310Pro) c.3341T>C (p.Leu1114Pro) c.3338T>C (p.Leu1113Pro) c.3326T>C (p.Leu1109Pro) c.3314T>C (p.Leu1105Pro) c.3281T>C (p.Leu1094Pro) c.3224T>C (p.Leu1075Pro) c.3323T>C (p.Leu1108Pro) c.3299T>C (p.Leu1100Pro) c.3134T>C (p.Leu1045Pro) c.3493T>C (p.Trp1165Arg) c.3469T>C (p.Trp1157Arg) c.3466T>C (p.Trp1156Arg) c.3394T>C (p.Trp1132Arg) c.3379T>C (p.Trp1127Arg) c.3304T>C (p.Trp1102Arg) | |
| 1 | g.16986253A>T | CA338232107 | ATP13A2 | c.3511T>A (p.Trp1171Arg) c.3209T>A (p.Leu1070Gln) c.3496T>A (p.Trp1166Arg) n.1557T>A c.929T>A (p.Leu310Gln) c.3341T>A (p.Leu1114Gln) c.3338T>A (p.Leu1113Gln) c.3326T>A (p.Leu1109Gln) c.3314T>A (p.Leu1105Gln) c.3281T>A (p.Leu1094Gln) c.3224T>A (p.Leu1075Gln) c.3323T>A (p.Leu1108Gln) c.3299T>A (p.Leu1100Gln) c.3134T>A (p.Leu1045Gln) c.3493T>A (p.Trp1165Arg) c.3469T>A (p.Trp1157Arg) c.3466T>A (p.Trp1156Arg) c.3394T>A (p.Trp1132Arg) c.3379T>A (p.Trp1127Arg) c.3304T>A (p.Trp1102Arg) | |
| 1 | g.16986254G>A | CA416093520 | ATP13A2 | c.3510C>T (p.Pro1170=) c.3208C>T (p.Leu1070=) c.3495C>T (p.Pro1165=) n.1556C>T c.928C>T (p.Leu310=) c.3340C>T (p.Leu1114=) c.3337C>T (p.Leu1113=) c.3325C>T (p.Leu1109=) c.3313C>T (p.Leu1105=) c.3280C>T (p.Leu1094=) c.3223C>T (p.Leu1075=) c.3322C>T (p.Leu1108=) c.3298C>T (p.Leu1100=) c.3133C>T (p.Leu1045=) c.3492C>T (p.Pro1164=) c.3468C>T (p.Pro1156=) c.3465C>T (p.Pro1155=) c.3393C>T (p.Pro1131=) c.3378C>T (p.Pro1126=) c.3303C>T (p.Pro1101=) | |
| 1 | g.16986254G>C | CA338232109 | ATP13A2 | c.3510C>G (p.Pro1170=) c.3208C>G (p.Leu1070Val) c.3495C>G (p.Pro1165=) n.1556C>G c.928C>G (p.Leu310Val) c.3340C>G (p.Leu1114Val) c.3337C>G (p.Leu1113Val) c.3325C>G (p.Leu1109Val) c.3313C>G (p.Leu1105Val) c.3280C>G (p.Leu1094Val) c.3223C>G (p.Leu1075Val) c.3322C>G (p.Leu1108Val) c.3298C>G (p.Leu1100Val) c.3133C>G (p.Leu1045Val) c.3492C>G (p.Pro1164=) c.3468C>G (p.Pro1156=) c.3465C>G (p.Pro1155=) c.3393C>G (p.Pro1131=) c.3378C>G (p.Pro1126=) c.3303C>G (p.Pro1101=) | gnomAD v4 |
| 1 | g.16986254G>T | CA338232108 | ATP13A2 | c.3510C>A (p.Pro1170=) c.3208C>A (p.Leu1070Met) c.3495C>A (p.Pro1165=) n.1556C>A c.928C>A (p.Leu310Met) c.3340C>A (p.Leu1114Met) c.3337C>A (p.Leu1113Met) c.3325C>A (p.Leu1109Met) c.3313C>A (p.Leu1105Met) c.3280C>A (p.Leu1094Met) c.3223C>A (p.Leu1075Met) c.3322C>A (p.Leu1108Met) c.3298C>A (p.Leu1100Met) c.3133C>A (p.Leu1045Met) c.3492C>A (p.Pro1164=) c.3468C>A (p.Pro1156=) c.3465C>A (p.Pro1155=) c.3393C>A (p.Pro1131=) c.3378C>A (p.Pro1126=) c.3303C>A (p.Pro1101=) | |
| 1 | g.16986255G>A | CA338232110 | ATP13A2 | c.3509C>T (p.Pro1170Leu) c.3207C>T (p.Ala1069=) c.3494C>T (p.Pro1165Leu) n.1555C>T c.927C>T (p.Ala309=) c.3339C>T (p.Ala1113=) c.3336C>T (p.Ala1112=) c.3324C>T (p.Ala1108=) c.3312C>T (p.Ala1104=) c.3279C>T (p.Ala1093=) c.3222C>T (p.Ala1074=) c.3321C>T (p.Ala1107=) c.3297C>T (p.Ala1099=) c.3132C>T (p.Ala1044=) c.3491C>T (p.Pro1164Leu) c.3467C>T (p.Pro1156Leu) c.3464C>T (p.Pro1155Leu) c.3392C>T (p.Pro1131Leu) c.3377C>T (p.Pro1126Leu) c.3302C>T (p.Pro1101Leu) | |
| 1 | g.16986255G>C | CA338232111 | ATP13A2 | c.3509C>G (p.Pro1170Arg) c.3207C>G (p.Ala1069=) c.3494C>G (p.Pro1165Arg) n.1555C>G c.927C>G (p.Ala309=) c.3339C>G (p.Ala1113=) c.3336C>G (p.Ala1112=) c.3324C>G (p.Ala1108=) c.3312C>G (p.Ala1104=) c.3279C>G (p.Ala1093=) c.3222C>G (p.Ala1074=) c.3321C>G (p.Ala1107=) c.3297C>G (p.Ala1099=) c.3132C>G (p.Ala1044=) c.3491C>G (p.Pro1164Arg) c.3467C>G (p.Pro1156Arg) c.3464C>G (p.Pro1155Arg) c.3392C>G (p.Pro1131Arg) c.3377C>G (p.Pro1126Arg) c.3302C>G (p.Pro1101Arg) | |
| 1 | g.16986255G>T | CA338232112 | ATP13A2 | c.3509C>A (p.Pro1170His) c.3207C>A (p.Ala1069=) c.3494C>A (p.Pro1165His) n.1555C>A c.927C>A (p.Ala309=) c.3339C>A (p.Ala1113=) c.3336C>A (p.Ala1112=) c.3324C>A (p.Ala1108=) c.3312C>A (p.Ala1104=) c.3279C>A (p.Ala1093=) c.3222C>A (p.Ala1074=) c.3321C>A (p.Ala1107=) c.3297C>A (p.Ala1099=) c.3132C>A (p.Ala1044=) c.3491C>A (p.Pro1164His) c.3467C>A (p.Pro1156His) c.3464C>A (p.Pro1155His) c.3392C>A (p.Pro1131His) c.3377C>A (p.Pro1126His) c.3302C>A (p.Pro1101His) | |
| 1 | g.16986256G>A | CA338232113 | ATP13A2 | c.3508C>T (p.Pro1170Ser) c.3206C>T (p.Ala1069Val) c.3493C>T (p.Pro1165Ser) n.1554C>T c.926C>T (p.Ala309Val) c.3338C>T (p.Ala1113Val) c.3335C>T (p.Ala1112Val) c.3323C>T (p.Ala1108Val) c.3311C>T (p.Ala1104Val) c.3278C>T (p.Ala1093Val) c.3221C>T (p.Ala1074Val) c.3320C>T (p.Ala1107Val) c.3296C>T (p.Ala1099Val) c.3131C>T (p.Ala1044Val) c.3490C>T (p.Pro1164Ser) c.3466C>T (p.Pro1156Ser) c.3463C>T (p.Pro1155Ser) c.3391C>T (p.Pro1131Ser) c.3376C>T (p.Pro1126Ser) c.3301C>T (p.Pro1101Ser) | |
| 1 | g.16986256G>C | CA338232116 | ATP13A2 | c.3508C>G (p.Pro1170Ala) c.3206C>G (p.Ala1069Gly) c.3493C>G (p.Pro1165Ala) n.1554C>G c.926C>G (p.Ala309Gly) c.3338C>G (p.Ala1113Gly) c.3335C>G (p.Ala1112Gly) c.3323C>G (p.Ala1108Gly) c.3311C>G (p.Ala1104Gly) c.3278C>G (p.Ala1093Gly) c.3221C>G (p.Ala1074Gly) c.3320C>G (p.Ala1107Gly) c.3296C>G (p.Ala1099Gly) c.3131C>G (p.Ala1044Gly) c.3490C>G (p.Pro1164Ala) c.3466C>G (p.Pro1156Ala) c.3463C>G (p.Pro1155Ala) c.3391C>G (p.Pro1131Ala) c.3376C>G (p.Pro1126Ala) c.3301C>G (p.Pro1101Ala) | |
| 1 | g.16986256G>T | CA338232117 | ATP13A2 | c.3508C>A (p.Pro1170Thr) c.3206C>A (p.Ala1069Asp) c.3493C>A (p.Pro1165Thr) n.1554C>A c.926C>A (p.Ala309Asp) c.3338C>A (p.Ala1113Asp) c.3335C>A (p.Ala1112Asp) c.3323C>A (p.Ala1108Asp) c.3311C>A (p.Ala1104Asp) c.3278C>A (p.Ala1093Asp) c.3221C>A (p.Ala1074Asp) c.3320C>A (p.Ala1107Asp) c.3296C>A (p.Ala1099Asp) c.3131C>A (p.Ala1044Asp) c.3490C>A (p.Pro1164Thr) c.3466C>A (p.Pro1156Thr) c.3463C>A (p.Pro1155Thr) c.3391C>A (p.Pro1131Thr) c.3376C>A (p.Pro1126Thr) c.3301C>A (p.Pro1101Thr) |