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.16986151G>A | CA338231372 | ATP13A2 | c.*70C>T (n.*70C>T) c.3311C>T (p.Ala1104Val) n.1659C>T c.1031C>T (p.Ala344Val) c.3443C>T (p.Ala1148Val) c.3440C>T (p.Ala1147Val) c.3428C>T (p.Ala1143Val) c.3416C>T (p.Ala1139Val) c.3383C>T (p.Ala1128Val) c.3326C>T (p.Ala1109Val) c.3425C>T (p.Ala1142Val) c.3401C>T (p.Ala1134Val) c.3236C>T (p.Ala1079Val) | gnomAD v4 |
| 1 | g.16986151G>C | CA338231376 | ATP13A2 | c.*70C>G (n.*70C>G) c.3311C>G (p.Ala1104Gly) n.1659C>G c.1031C>G (p.Ala344Gly) c.3443C>G (p.Ala1148Gly) c.3440C>G (p.Ala1147Gly) c.3428C>G (p.Ala1143Gly) c.3416C>G (p.Ala1139Gly) c.3383C>G (p.Ala1128Gly) c.3326C>G (p.Ala1109Gly) c.3425C>G (p.Ala1142Gly) c.3401C>G (p.Ala1134Gly) c.3236C>G (p.Ala1079Gly) | |
| 1 | g.16986151G>T | CA338231373 | ATP13A2 | c.*70C>A (n.*70C>A) c.3311C>A (p.Ala1104Glu) n.1659C>A c.1031C>A (p.Ala344Glu) c.3443C>A (p.Ala1148Glu) c.3440C>A (p.Ala1147Glu) c.3428C>A (p.Ala1143Glu) c.3416C>A (p.Ala1139Glu) c.3383C>A (p.Ala1128Glu) c.3326C>A (p.Ala1109Glu) c.3425C>A (p.Ala1142Glu) c.3401C>A (p.Ala1134Glu) c.3236C>A (p.Ala1079Glu) | |
| 1 | g.16986152C>A | CA338231378 | ATP13A2 | c.*69G>T (n.*69G>T) c.3310G>T (p.Ala1104Ser) n.1658G>T c.1030G>T (p.Ala344Ser) c.3442G>T (p.Ala1148Ser) c.3439G>T (p.Ala1147Ser) c.3427G>T (p.Ala1143Ser) c.3415G>T (p.Ala1139Ser) c.3382G>T (p.Ala1128Ser) c.3325G>T (p.Ala1109Ser) c.3424G>T (p.Ala1142Ser) c.3400G>T (p.Ala1134Ser) c.3235G>T (p.Ala1079Ser) | gnomAD v4 |
| 1 | g.16986152C>G | CA338231380 | ATP13A2 | c.*69G>C (n.*69G>C) c.3310G>C (p.Ala1104Pro) n.1658G>C c.1030G>C (p.Ala344Pro) c.3442G>C (p.Ala1148Pro) c.3439G>C (p.Ala1147Pro) c.3427G>C (p.Ala1143Pro) c.3415G>C (p.Ala1139Pro) c.3382G>C (p.Ala1128Pro) c.3325G>C (p.Ala1109Pro) c.3424G>C (p.Ala1142Pro) c.3400G>C (p.Ala1134Pro) c.3235G>C (p.Ala1079Pro) | |
| 1 | g.16986152C>T | CA338231382 | ATP13A2 | c.*69G>A (n.*69G>A) c.3310G>A (p.Ala1104Thr) n.1658G>A c.1030G>A (p.Ala344Thr) c.3442G>A (p.Ala1148Thr) c.3439G>A (p.Ala1147Thr) c.3427G>A (p.Ala1143Thr) c.3415G>A (p.Ala1139Thr) c.3382G>A (p.Ala1128Thr) c.3325G>A (p.Ala1109Thr) c.3424G>A (p.Ala1142Thr) c.3400G>A (p.Ala1134Thr) c.3235G>A (p.Ala1079Thr) | gnomAD v4 |
| 1 | g.16986153_16986154delinsTG | CA1156048938 | ATP13A2 | c.*67_*68delinsCA (n.*67_*68delinsCA) c.3308_3309delinsCA (p.Pro1103=) n.1656_1657delinsCA c.1028_1029delinsCA (p.Pro343=) c.3440_3441delinsCA (p.Pro1147=) c.3437_3438delinsCA (p.Pro1146=) c.3425_3426delinsCA (p.Pro1142=) c.3413_3414delinsCA (p.Pro1138=) c.3380_3381delinsCA (p.Pro1127=) c.3323_3324delinsCA (p.Pro1108=) c.3422_3423delinsCA (p.Pro1141=) c.3398_3399delinsCA (p.Pro1133=) c.3233_3234delinsCA (p.Pro1078=) | |
| 1 | g.16986154G>A | CA338231384 | ATP13A2 | c.*67C>T (n.*67C>T) c.3308C>T (p.Pro1103Leu) n.1656C>T c.1028C>T (p.Pro343Leu) c.3440C>T (p.Pro1147Leu) c.3437C>T (p.Pro1146Leu) c.3425C>T (p.Pro1142Leu) c.3413C>T (p.Pro1138Leu) c.3380C>T (p.Pro1127Leu) c.3323C>T (p.Pro1108Leu) c.3422C>T (p.Pro1141Leu) c.3398C>T (p.Pro1133Leu) c.3233C>T (p.Pro1078Leu) | |
| 1 | g.16986154G>C | CA338231387 | ATP13A2 | c.*67C>G (n.*67C>G) c.3308C>G (p.Pro1103Arg) n.1656C>G c.1028C>G (p.Pro343Arg) c.3440C>G (p.Pro1147Arg) c.3437C>G (p.Pro1146Arg) c.3425C>G (p.Pro1142Arg) c.3413C>G (p.Pro1138Arg) c.3380C>G (p.Pro1127Arg) c.3323C>G (p.Pro1108Arg) c.3422C>G (p.Pro1141Arg) c.3398C>G (p.Pro1133Arg) c.3233C>G (p.Pro1078Arg) | |
| 1 | g.16986154G>T | CA338231398 | ATP13A2 | c.*67C>A (n.*67C>A) c.3308C>A (p.Pro1103Gln) n.1656C>A c.1028C>A (p.Pro343Gln) c.3440C>A (p.Pro1147Gln) c.3437C>A (p.Pro1146Gln) c.3425C>A (p.Pro1142Gln) c.3413C>A (p.Pro1138Gln) c.3380C>A (p.Pro1127Gln) c.3323C>A (p.Pro1108Gln) c.3422C>A (p.Pro1141Gln) c.3398C>A (p.Pro1133Gln) c.3233C>A (p.Pro1078Gln) | dbSNP |
| 1 | g.16986154_16986155delinsAA | CA645512528 | ATP13A2 | c.*66_*67delinsTT (n.*66_*67delinsTT) c.3307_3308delinsTT (p.Pro1103Leu) n.1655_1656delinsTT c.1027_1028delinsTT (p.Pro343Leu) c.3439_3440delinsTT (p.Pro1147Leu) c.3436_3437delinsTT (p.Pro1146Leu) c.3424_3425delinsTT (p.Pro1142Leu) c.3412_3413delinsTT (p.Pro1138Leu) c.3379_3380delinsTT (p.Pro1127Leu) c.3322_3323delinsTT (p.Pro1108Leu) c.3421_3422delinsTT (p.Pro1141Leu) c.3397_3398delinsTT (p.Pro1133Leu) c.3232_3233delinsTT (p.Pro1078Leu) | COSMIC |
| 1 | g.16986155del | CA521449599 | ATP13A2 | c.*67del (n.*67del) c.3308del (p.Pro1103GlnfsTer12) n.1656del c.1028del (p.Pro343GlnfsTer12) c.3440del (p.Pro1147GlnfsTer12) c.3437del (p.Pro1146GlnfsTer12) c.3425del (p.Pro1142GlnfsTer12) c.3413del (p.Pro1138GlnfsTer12) c.3380del (p.Pro1127GlnfsTer12) c.3323del (p.Pro1108GlnfsTer12) c.3422del (p.Pro1141GlnfsTer12) c.3398del (p.Pro1133GlnfsTer12) c.3233del (p.Pro1078GlnfsTer12) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.16986155G>A | CA338231400 | ATP13A2 | c.*66C>T (n.*66C>T) c.3307C>T (p.Pro1103Ser) n.1655C>T c.1027C>T (p.Pro343Ser) c.3439C>T (p.Pro1147Ser) c.3436C>T (p.Pro1146Ser) c.3424C>T (p.Pro1142Ser) c.3412C>T (p.Pro1138Ser) c.3379C>T (p.Pro1127Ser) c.3322C>T (p.Pro1108Ser) c.3421C>T (p.Pro1141Ser) c.3397C>T (p.Pro1133Ser) c.3232C>T (p.Pro1078Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.16986155G>C | CA338231402 | ATP13A2 | c.*66C>G (n.*66C>G) c.3307C>G (p.Pro1103Ala) n.1655C>G c.1027C>G (p.Pro343Ala) c.3439C>G (p.Pro1147Ala) c.3436C>G (p.Pro1146Ala) c.3424C>G (p.Pro1142Ala) c.3412C>G (p.Pro1138Ala) c.3379C>G (p.Pro1127Ala) c.3322C>G (p.Pro1108Ala) c.3421C>G (p.Pro1141Ala) c.3397C>G (p.Pro1133Ala) c.3232C>G (p.Pro1078Ala) | |
| 1 | g.16986155G= | CA1156048955 | ATP13A2 | c.*66C= (n.*66C=) c.3307C= (p.Pro1103=) n.1655C= c.1027C= (p.Pro343=) c.3439C= (p.Pro1147=) c.3436C= (p.Pro1146=) c.3424C= (p.Pro1142=) c.3412C= (p.Pro1138=) c.3379C= (p.Pro1127=) c.3322C= (p.Pro1108=) c.3421C= (p.Pro1141=) c.3397C= (p.Pro1133=) c.3232C= (p.Pro1078=) | |
| 1 | g.16986155G>T | CA338231408 | ATP13A2 | c.*66C>A (n.*66C>A) c.3307C>A (p.Pro1103Thr) n.1655C>A c.1027C>A (p.Pro343Thr) c.3439C>A (p.Pro1147Thr) c.3436C>A (p.Pro1146Thr) c.3424C>A (p.Pro1142Thr) c.3412C>A (p.Pro1138Thr) c.3379C>A (p.Pro1127Thr) c.3322C>A (p.Pro1108Thr) c.3421C>A (p.Pro1141Thr) c.3397C>A (p.Pro1133Thr) c.3232C>A (p.Pro1078Thr) | gnomAD v4 |
| 1 | g.16986156A>C | CA2643667978 | ATP13A2 | c.*65T>G (n.*65T>G) c.3306T>G (p.Ser1102=) n.1654T>G c.1026T>G (p.Ser342=) c.3438T>G (p.Ser1146=) c.3435T>G (p.Ser1145=) c.3423T>G (p.Ser1141=) c.3411T>G (p.Ser1137=) c.3378T>G (p.Ser1126=) c.3321T>G (p.Ser1107=) c.3420T>G (p.Ser1140=) c.3396T>G (p.Ser1132=) c.3231T>G (p.Ser1077=) | gnomAD v4 |
| 1 | g.16986157G>A | CA338231411 | ATP13A2 | c.*64C>T (n.*64C>T) c.3305C>T (p.Ser1102Phe) n.1653C>T c.1025C>T (p.Ser342Phe) c.3437C>T (p.Ser1146Phe) c.3434C>T (p.Ser1145Phe) c.3422C>T (p.Ser1141Phe) c.3410C>T (p.Ser1137Phe) c.3377C>T (p.Ser1126Phe) c.3320C>T (p.Ser1107Phe) c.3419C>T (p.Ser1140Phe) c.3395C>T (p.Ser1132Phe) c.3230C>T (p.Ser1077Phe) | dbSNP |
| 1 | g.16986157G>C | CA18624462 | ATP13A2 | c.*64C>G (n.*64C>G) c.3305C>G (p.Ser1102Cys) n.1653C>G c.1025C>G (p.Ser342Cys) c.3437C>G (p.Ser1146Cys) c.3434C>G (p.Ser1145Cys) c.3422C>G (p.Ser1141Cys) c.3410C>G (p.Ser1137Cys) c.3377C>G (p.Ser1126Cys) c.3320C>G (p.Ser1107Cys) c.3419C>G (p.Ser1140Cys) c.3395C>G (p.Ser1132Cys) c.3230C>G (p.Ser1077Cys) | dbSNP |
| 1 | g.16986157G= | CA1156048961 | ATP13A2 | c.*64C= (n.*64C=) c.3305C= (p.Ser1102=) n.1653C= c.1025C= (p.Ser342=) c.3437C= (p.Ser1146=) c.3434C= (p.Ser1145=) c.3422C= (p.Ser1141=) c.3410C= (p.Ser1137=) c.3377C= (p.Ser1126=) c.3320C= (p.Ser1107=) c.3419C= (p.Ser1140=) c.3395C= (p.Ser1132=) c.3230C= (p.Ser1077=) | |
| 1 | g.16986157G>T | CA338231417 | ATP13A2 | c.*64C>A (n.*64C>A) c.3305C>A (p.Ser1102Tyr) n.1653C>A c.1025C>A (p.Ser342Tyr) c.3437C>A (p.Ser1146Tyr) c.3434C>A (p.Ser1145Tyr) c.3422C>A (p.Ser1141Tyr) c.3410C>A (p.Ser1137Tyr) c.3377C>A (p.Ser1126Tyr) c.3320C>A (p.Ser1107Tyr) c.3419C>A (p.Ser1140Tyr) c.3395C>A (p.Ser1132Tyr) c.3230C>A (p.Ser1077Tyr) | |
| 1 | g.16986158A>C | CA338231431 | ATP13A2 | c.*63T>G (n.*63T>G) c.3304T>G (p.Ser1102Ala) n.1652T>G c.1024T>G (p.Ser342Ala) c.3436T>G (p.Ser1146Ala) c.3433T>G (p.Ser1145Ala) c.3421T>G (p.Ser1141Ala) c.3409T>G (p.Ser1137Ala) c.3376T>G (p.Ser1126Ala) c.3319T>G (p.Ser1107Ala) c.3418T>G (p.Ser1140Ala) c.3394T>G (p.Ser1132Ala) c.3229T>G (p.Ser1077Ala) | |
| 1 | g.16986158A>G | CA338231420 | ATP13A2 | c.*63T>C (n.*63T>C) c.3304T>C (p.Ser1102Pro) n.1652T>C c.1024T>C (p.Ser342Pro) c.3436T>C (p.Ser1146Pro) c.3433T>C (p.Ser1145Pro) c.3421T>C (p.Ser1141Pro) c.3409T>C (p.Ser1137Pro) c.3376T>C (p.Ser1126Pro) c.3319T>C (p.Ser1107Pro) c.3418T>C (p.Ser1140Pro) c.3394T>C (p.Ser1132Pro) c.3229T>C (p.Ser1077Pro) | |
| 1 | g.16986158A>T | CA338231424 | ATP13A2 | c.*63T>A (n.*63T>A) c.3304T>A (p.Ser1102Thr) n.1652T>A c.1024T>A (p.Ser342Thr) c.3436T>A (p.Ser1146Thr) c.3433T>A (p.Ser1145Thr) c.3421T>A (p.Ser1141Thr) c.3409T>A (p.Ser1137Thr) c.3376T>A (p.Ser1126Thr) c.3319T>A (p.Ser1107Thr) c.3418T>A (p.Ser1140Thr) c.3394T>A (p.Ser1132Thr) c.3229T>A (p.Ser1077Thr) | |
| 1 | g.16986159G>C | CA2643667980 | ATP13A2 | c.*62C>G (n.*62C>G) c.3303C>G (p.Pro1101=) n.1651C>G c.1023C>G (p.Pro341=) c.3435C>G (p.Pro1145=) c.3432C>G (p.Pro1144=) c.3420C>G (p.Pro1140=) c.3408C>G (p.Pro1136=) c.3375C>G (p.Pro1125=) c.3318C>G (p.Pro1106=) c.3417C>G (p.Pro1139=) c.3393C>G (p.Pro1131=) c.3228C>G (p.Pro1076=) | gnomAD v4 |
| 1 | g.16986160G>A | CA636437 | ATP13A2 | c.*61C>T (n.*61C>T) c.3302C>T (p.Pro1101Leu) n.1650C>T c.1022C>T (p.Pro341Leu) c.3434C>T (p.Pro1145Leu) c.3431C>T (p.Pro1144Leu) c.3419C>T (p.Pro1140Leu) c.3407C>T (p.Pro1136Leu) c.3374C>T (p.Pro1125Leu) c.3317C>T (p.Pro1106Leu) c.3416C>T (p.Pro1139Leu) c.3392C>T (p.Pro1131Leu) c.3227C>T (p.Pro1076Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16986160G>C | CA338231432 | ATP13A2 | c.*61C>G (n.*61C>G) c.3302C>G (p.Pro1101Arg) n.1650C>G c.1022C>G (p.Pro341Arg) c.3434C>G (p.Pro1145Arg) c.3431C>G (p.Pro1144Arg) c.3419C>G (p.Pro1140Arg) c.3407C>G (p.Pro1136Arg) c.3374C>G (p.Pro1125Arg) c.3317C>G (p.Pro1106Arg) c.3416C>G (p.Pro1139Arg) c.3392C>G (p.Pro1131Arg) c.3227C>G (p.Pro1076Arg) | |
| 1 | g.16986160G= | CA1156048979 | ATP13A2 | c.*61C= (n.*61C=) c.3302C= (p.Pro1101=) n.1650C= c.1022C= (p.Pro341=) c.3434C= (p.Pro1145=) c.3431C= (p.Pro1144=) c.3419C= (p.Pro1140=) c.3407C= (p.Pro1136=) c.3374C= (p.Pro1125=) c.3317C= (p.Pro1106=) c.3416C= (p.Pro1139=) c.3392C= (p.Pro1131=) c.3227C= (p.Pro1076=) | |
| 1 | g.16986160G>T | CA338231433 | ATP13A2 | c.*61C>A (n.*61C>A) c.3302C>A (p.Pro1101His) n.1650C>A c.1022C>A (p.Pro341His) c.3434C>A (p.Pro1145His) c.3431C>A (p.Pro1144His) c.3419C>A (p.Pro1140His) c.3407C>A (p.Pro1136His) c.3374C>A (p.Pro1125His) c.3317C>A (p.Pro1106His) c.3416C>A (p.Pro1139His) c.3392C>A (p.Pro1131His) c.3227C>A (p.Pro1076His) | COSMIC |
| 1 | g.16986161G>A | CA338231434 | ATP13A2 | c.*60C>T (n.*60C>T) c.3301C>T (p.Pro1101Ser) n.1649C>T c.1021C>T (p.Pro341Ser) c.3433C>T (p.Pro1145Ser) c.3430C>T (p.Pro1144Ser) c.3418C>T (p.Pro1140Ser) c.3406C>T (p.Pro1136Ser) c.3373C>T (p.Pro1125Ser) c.3316C>T (p.Pro1106Ser) c.3415C>T (p.Pro1139Ser) c.3391C>T (p.Pro1131Ser) c.3226C>T (p.Pro1076Ser) | |
| 1 | g.16986161G>C | CA338231436 | ATP13A2 | c.*60C>G (n.*60C>G) c.3301C>G (p.Pro1101Ala) n.1649C>G c.1021C>G (p.Pro341Ala) c.3433C>G (p.Pro1145Ala) c.3430C>G (p.Pro1144Ala) c.3418C>G (p.Pro1140Ala) c.3406C>G (p.Pro1136Ala) c.3373C>G (p.Pro1125Ala) c.3316C>G (p.Pro1106Ala) c.3415C>G (p.Pro1139Ala) c.3391C>G (p.Pro1131Ala) c.3226C>G (p.Pro1076Ala) | |
| 1 | g.16986161G>T | CA338231437 | ATP13A2 | c.*60C>A (n.*60C>A) c.3301C>A (p.Pro1101Thr) n.1649C>A c.1021C>A (p.Pro341Thr) c.3433C>A (p.Pro1145Thr) c.3430C>A (p.Pro1144Thr) c.3418C>A (p.Pro1140Thr) c.3406C>A (p.Pro1136Thr) c.3373C>A (p.Pro1125Thr) c.3316C>A (p.Pro1106Thr) c.3415C>A (p.Pro1139Thr) c.3391C>A (p.Pro1131Thr) c.3226C>A (p.Pro1076Thr) | |
| 1 | g.16986162G>A | CA1156048990 | ATP13A2 | c.*59C>T (n.*59C>T) c.3300C>T (p.Asp1100=) n.1648C>T c.1020C>T (p.Asp340=) c.3432C>T (p.Asp1144=) c.3429C>T (p.Asp1143=) c.3417C>T (p.Asp1139=) c.3405C>T (p.Asp1135=) c.3372C>T (p.Asp1124=) c.3315C>T (p.Asp1105=) c.3414C>T (p.Asp1138=) c.3390C>T (p.Asp1130=) c.3225C>T (p.Asp1075=) | dbSNP gnomAD v4 |
| 1 | g.16986162G>C | CA338231440 | ATP13A2 | c.*59C>G (n.*59C>G) c.3300C>G (p.Asp1100Glu) n.1648C>G c.1020C>G (p.Asp340Glu) c.3432C>G (p.Asp1144Glu) c.3429C>G (p.Asp1143Glu) c.3417C>G (p.Asp1139Glu) c.3405C>G (p.Asp1135Glu) c.3372C>G (p.Asp1124Glu) c.3315C>G (p.Asp1105Glu) c.3414C>G (p.Asp1138Glu) c.3390C>G (p.Asp1130Glu) c.3225C>G (p.Asp1075Glu) | |
| 1 | g.16986162G= | CA1156048987 | ATP13A2 | c.*59C= (n.*59C=) c.3300C= (p.Asp1100=) n.1648C= c.1020C= (p.Asp340=) c.3432C= (p.Asp1144=) c.3429C= (p.Asp1143=) c.3417C= (p.Asp1139=) c.3405C= (p.Asp1135=) c.3372C= (p.Asp1124=) c.3315C= (p.Asp1105=) c.3414C= (p.Asp1138=) c.3390C= (p.Asp1130=) c.3225C= (p.Asp1075=) | |
| 1 | g.16986162G>T | CA338231442 | ATP13A2 | c.*59C>A (n.*59C>A) c.3300C>A (p.Asp1100Glu) n.1648C>A c.1020C>A (p.Asp340Glu) c.3432C>A (p.Asp1144Glu) c.3429C>A (p.Asp1143Glu) c.3417C>A (p.Asp1139Glu) c.3405C>A (p.Asp1135Glu) c.3372C>A (p.Asp1124Glu) c.3315C>A (p.Asp1105Glu) c.3414C>A (p.Asp1138Glu) c.3390C>A (p.Asp1130Glu) c.3225C>A (p.Asp1075Glu) | |
| 1 | g.16986163T>A | CA338231443 | ATP13A2 | c.*58A>T (n.*58A>T) c.3299A>T (p.Asp1100Val) n.1647A>T c.1019A>T (p.Asp340Val) c.3431A>T (p.Asp1144Val) c.3428A>T (p.Asp1143Val) c.3416A>T (p.Asp1139Val) c.3404A>T (p.Asp1135Val) c.3371A>T (p.Asp1124Val) c.3314A>T (p.Asp1105Val) c.3413A>T (p.Asp1138Val) c.3389A>T (p.Asp1130Val) c.3224A>T (p.Asp1075Val) | |
| 1 | g.16986163T>C | CA636438 | ATP13A2 | c.*58A>G (n.*58A>G) c.3299A>G (p.Asp1100Gly) n.1647A>G c.1019A>G (p.Asp340Gly) c.3431A>G (p.Asp1144Gly) c.3428A>G (p.Asp1143Gly) c.3416A>G (p.Asp1139Gly) c.3404A>G (p.Asp1135Gly) c.3371A>G (p.Asp1124Gly) c.3314A>G (p.Asp1105Gly) c.3413A>G (p.Asp1138Gly) c.3389A>G (p.Asp1130Gly) c.3224A>G (p.Asp1075Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16986163T>G | CA338231454 | ATP13A2 | c.*58A>C (n.*58A>C) c.3299A>C (p.Asp1100Ala) n.1647A>C c.1019A>C (p.Asp340Ala) c.3431A>C (p.Asp1144Ala) c.3428A>C (p.Asp1143Ala) c.3416A>C (p.Asp1139Ala) c.3404A>C (p.Asp1135Ala) c.3371A>C (p.Asp1124Ala) c.3314A>C (p.Asp1105Ala) c.3413A>C (p.Asp1138Ala) c.3389A>C (p.Asp1130Ala) c.3224A>C (p.Asp1075Ala) | gnomAD v4 |
| 1 | g.16986163T= | CA1143642472 | ATP13A2 | c.*58A= (n.*58A=) c.3299A= (p.Asp1100=) n.1647A= c.1019A= (p.Asp340=) c.3431A= (p.Asp1144=) c.3428A= (p.Asp1143=) c.3416A= (p.Asp1139=) c.3404A= (p.Asp1135=) c.3371A= (p.Asp1124=) c.3314A= (p.Asp1105=) c.3413A= (p.Asp1138=) c.3389A= (p.Asp1130=) c.3224A= (p.Asp1075=) | |
| 1 | g.16986164C>A | CA338231471 | ATP13A2 | c.*57G>T (n.*57G>T) c.3298G>T (p.Asp1100Tyr) n.1646G>T c.1018G>T (p.Asp340Tyr) c.3430G>T (p.Asp1144Tyr) c.3427G>T (p.Asp1143Tyr) c.3415G>T (p.Asp1139Tyr) c.3403G>T (p.Asp1135Tyr) c.3370G>T (p.Asp1124Tyr) c.3313G>T (p.Asp1105Tyr) c.3412G>T (p.Asp1138Tyr) c.3388G>T (p.Asp1130Tyr) c.3223G>T (p.Asp1075Tyr) | |
| 1 | g.16986164C>G | CA338231468 | ATP13A2 | c.*57G>C (n.*57G>C) c.3298G>C (p.Asp1100His) n.1646G>C c.1018G>C (p.Asp340His) c.3430G>C (p.Asp1144His) c.3427G>C (p.Asp1143His) c.3415G>C (p.Asp1139His) c.3403G>C (p.Asp1135His) c.3370G>C (p.Asp1124His) c.3313G>C (p.Asp1105His) c.3412G>C (p.Asp1138His) c.3388G>C (p.Asp1130His) c.3223G>C (p.Asp1075His) | |
| 1 | g.16986164C>T | CA338231457 | ATP13A2 | c.*57G>A (n.*57G>A) c.3298G>A (p.Asp1100Asn) n.1646G>A c.1018G>A (p.Asp340Asn) c.3430G>A (p.Asp1144Asn) c.3427G>A (p.Asp1143Asn) c.3415G>A (p.Asp1139Asn) c.3403G>A (p.Asp1135Asn) c.3370G>A (p.Asp1124Asn) c.3313G>A (p.Asp1105Asn) c.3412G>A (p.Asp1138Asn) c.3388G>A (p.Asp1130Asn) c.3223G>A (p.Asp1075Asn) | |
| 1 | g.16986165C= | CA1156048997 | ATP13A2 | c.*56G= (n.*56G=) c.3297G= (p.Leu1099=) n.1645G= c.1017G= (p.Leu339=) c.3429G= (p.Leu1143=) c.3426G= (p.Leu1142=) c.3414G= (p.Leu1138=) c.3402G= (p.Leu1134=) c.3369G= (p.Leu1123=) c.3312G= (p.Leu1104=) c.3411G= (p.Leu1137=) c.3387G= (p.Leu1129=) c.3222G= (p.Leu1074=) | |
| 1 | g.16986165C>G | CA636439 | ATP13A2 | c.*56G>C (n.*56G>C) c.3297G>C (p.Leu1099=) n.1645G>C c.1017G>C (p.Leu339=) c.3429G>C (p.Leu1143=) c.3426G>C (p.Leu1142=) c.3414G>C (p.Leu1138=) c.3402G>C (p.Leu1134=) c.3369G>C (p.Leu1123=) c.3312G>C (p.Leu1104=) c.3411G>C (p.Leu1137=) c.3387G>C (p.Leu1129=) c.3222G>C (p.Leu1074=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.16986166A= | CA1156049002 | ATP13A2 | c.*55T= (n.*55T=) c.3296T= (p.Leu1099=) n.1644T= c.1016T= (p.Leu339=) c.3428T= (p.Leu1143=) c.3425T= (p.Leu1142=) c.3413T= (p.Leu1138=) c.3401T= (p.Leu1134=) c.3368T= (p.Leu1123=) c.3311T= (p.Leu1104=) c.3410T= (p.Leu1137=) c.3386T= (p.Leu1129=) c.3221T= (p.Leu1074=) | |
| 1 | g.16986166A>C | CA338231475 | ATP13A2 | c.*55T>G (n.*55T>G) c.3296T>G (p.Leu1099Arg) n.1644T>G c.1016T>G (p.Leu339Arg) c.3428T>G (p.Leu1143Arg) c.3425T>G (p.Leu1142Arg) c.3413T>G (p.Leu1138Arg) c.3401T>G (p.Leu1134Arg) c.3368T>G (p.Leu1123Arg) c.3311T>G (p.Leu1104Arg) c.3410T>G (p.Leu1137Arg) c.3386T>G (p.Leu1129Arg) c.3221T>G (p.Leu1074Arg) | |
| 1 | g.16986166A>G | CA636440 | ATP13A2 | c.*55T>C (n.*55T>C) c.3296T>C (p.Leu1099Pro) n.1644T>C c.1016T>C (p.Leu339Pro) c.3428T>C (p.Leu1143Pro) c.3425T>C (p.Leu1142Pro) c.3413T>C (p.Leu1138Pro) c.3401T>C (p.Leu1134Pro) c.3368T>C (p.Leu1123Pro) c.3311T>C (p.Leu1104Pro) c.3410T>C (p.Leu1137Pro) c.3386T>C (p.Leu1129Pro) c.3221T>C (p.Leu1074Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16986166A>T | CA338231479 | ATP13A2 | c.*55T>A (n.*55T>A) c.3296T>A (p.Leu1099Gln) n.1644T>A c.1016T>A (p.Leu339Gln) c.3428T>A (p.Leu1143Gln) c.3425T>A (p.Leu1142Gln) c.3413T>A (p.Leu1138Gln) c.3401T>A (p.Leu1134Gln) c.3368T>A (p.Leu1123Gln) c.3311T>A (p.Leu1104Gln) c.3410T>A (p.Leu1137Gln) c.3386T>A (p.Leu1129Gln) c.3221T>A (p.Leu1074Gln) | |
| 1 | g.16986167G>A | CA2643667989 | ATP13A2 | c.*54C>T (n.*54C>T) c.3295C>T (p.Leu1099=) n.1643C>T c.1015C>T (p.Leu339=) c.3427C>T (p.Leu1143=) c.3424C>T (p.Leu1142=) c.3412C>T (p.Leu1138=) c.3400C>T (p.Leu1134=) c.3367C>T (p.Leu1123=) c.3310C>T (p.Leu1104=) c.3409C>T (p.Leu1137=) c.3385C>T (p.Leu1129=) c.3220C>T (p.Leu1074=) | gnomAD v4 |