| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.16986722_16986825del | CA2643670866 | ATP13A2 | c.3223_3236-82del c.3091_3103+91del c.3208_3221-82del n.1097_1200del c.811_823+91del c.3223_3235+91del c.3220_3232+91del c.3208_3220+91del c.3196_3208+91del c.3163_3175+91del c.3106_3118+91del c.3205_3217+91del c.3181_3193+91del c.3016_3028+91del c.3205_3218-82del c.3181_3194-82del c.3178_3191-82del c.3106_3119-82del c.3091_3104-82del c.3016_3029-82del | gnomAD v4 |
| 1 | g.16986807T>A | CA338233266 | ATP13A2 | c.3233A>T (p.Asn1078Ile) c.3101A>T (p.Asn1034Ile) c.3218A>T (p.Asn1073Ile) n.1107A>T c.821A>T (p.Asn274Ile) c.3230A>T (p.Asn1077Ile) c.3206A>T (p.Asn1069Ile) c.3173A>T (p.Asn1058Ile) c.3116A>T (p.Asn1039Ile) c.3215A>T (p.Asn1072Ile) c.3191A>T (p.Asn1064Ile) c.3026A>T (p.Asn1009Ile) c.3188A>T (p.Asn1063Ile) | |
| 1 | g.16986807T>C | CA338233268 | ATP13A2 | c.3233A>G (p.Asn1078Ser) c.3101A>G (p.Asn1034Ser) c.3218A>G (p.Asn1073Ser) n.1107A>G c.821A>G (p.Asn274Ser) c.3230A>G (p.Asn1077Ser) c.3206A>G (p.Asn1069Ser) c.3173A>G (p.Asn1058Ser) c.3116A>G (p.Asn1039Ser) c.3215A>G (p.Asn1072Ser) c.3191A>G (p.Asn1064Ser) c.3026A>G (p.Asn1009Ser) c.3188A>G (p.Asn1063Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.16986807T>G | CA338233269 | ATP13A2 | c.3233A>C (p.Asn1078Thr) c.3101A>C (p.Asn1034Thr) c.3218A>C (p.Asn1073Thr) n.1107A>C c.821A>C (p.Asn274Thr) c.3230A>C (p.Asn1077Thr) c.3206A>C (p.Asn1069Thr) c.3173A>C (p.Asn1058Thr) c.3116A>C (p.Asn1039Thr) c.3215A>C (p.Asn1072Thr) c.3191A>C (p.Asn1064Thr) c.3026A>C (p.Asn1009Thr) c.3188A>C (p.Asn1063Thr) | |
| 1 | g.16986807T= | CA1156050322 | ATP13A2 | c.3233A= (p.Asn1078=) c.3101A= (p.Asn1034=) c.3218A= (p.Asn1073=) n.1107A= c.821A= (p.Asn274=) c.3230A= (p.Asn1077=) c.3206A= (p.Asn1069=) c.3173A= (p.Asn1058=) c.3116A= (p.Asn1039=) c.3215A= (p.Asn1072=) c.3191A= (p.Asn1064=) c.3026A= (p.Asn1009=) c.3188A= (p.Asn1063=) | |
| 1 | g.16986808T>A | CA338233273 | ATP13A2 | c.3232A>T (p.Asn1078Tyr) c.3100A>T (p.Asn1034Tyr) c.3217A>T (p.Asn1073Tyr) n.1106A>T c.820A>T (p.Asn274Tyr) c.3229A>T (p.Asn1077Tyr) c.3205A>T (p.Asn1069Tyr) c.3172A>T (p.Asn1058Tyr) c.3115A>T (p.Asn1039Tyr) c.3214A>T (p.Asn1072Tyr) c.3190A>T (p.Asn1064Tyr) c.3025A>T (p.Asn1009Tyr) c.3187A>T (p.Asn1063Tyr) | gnomAD v4 |
| 1 | g.16986808T>C | CA338233271 | ATP13A2 | c.3232A>G (p.Asn1078Asp) c.3100A>G (p.Asn1034Asp) c.3217A>G (p.Asn1073Asp) n.1106A>G c.820A>G (p.Asn274Asp) c.3229A>G (p.Asn1077Asp) c.3205A>G (p.Asn1069Asp) c.3172A>G (p.Asn1058Asp) c.3115A>G (p.Asn1039Asp) c.3214A>G (p.Asn1072Asp) c.3190A>G (p.Asn1064Asp) c.3025A>G (p.Asn1009Asp) c.3187A>G (p.Asn1063Asp) | |
| 1 | g.16986808T>G | CA338233270 | ATP13A2 | c.3232A>C (p.Asn1078His) c.3100A>C (p.Asn1034His) c.3217A>C (p.Asn1073His) n.1106A>C c.820A>C (p.Asn274His) c.3229A>C (p.Asn1077His) c.3205A>C (p.Asn1069His) c.3172A>C (p.Asn1058His) c.3115A>C (p.Asn1039His) c.3214A>C (p.Asn1072His) c.3190A>C (p.Asn1064His) c.3025A>C (p.Asn1009His) c.3187A>C (p.Asn1063His) | |
| 1 | g.16986809G>A | CA416093544 | ATP13A2 | c.3231C>T (p.Thr1077=) c.3099C>T (p.Thr1033=) c.3216C>T (p.Thr1072=) n.1105C>T c.819C>T (p.Thr273=) c.3228C>T (p.Thr1076=) c.3204C>T (p.Thr1068=) c.3171C>T (p.Thr1057=) c.3114C>T (p.Thr1038=) c.3213C>T (p.Thr1071=) c.3189C>T (p.Thr1063=) c.3024C>T (p.Thr1008=) c.3186C>T (p.Thr1062=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.16986809G>C | CA416093545 | ATP13A2 | c.3231C>G (p.Thr1077=) c.3099C>G (p.Thr1033=) c.3216C>G (p.Thr1072=) n.1105C>G c.819C>G (p.Thr273=) c.3228C>G (p.Thr1076=) c.3204C>G (p.Thr1068=) c.3171C>G (p.Thr1057=) c.3114C>G (p.Thr1038=) c.3213C>G (p.Thr1071=) c.3189C>G (p.Thr1063=) c.3024C>G (p.Thr1008=) c.3186C>G (p.Thr1062=) | |
| 1 | g.16986809G= | CA1156050325 | ATP13A2 | c.3231C= (p.Thr1077=) c.3099C= (p.Thr1033=) c.3216C= (p.Thr1072=) n.1105C= c.819C= (p.Thr273=) c.3228C= (p.Thr1076=) c.3204C= (p.Thr1068=) c.3171C= (p.Thr1057=) c.3114C= (p.Thr1038=) c.3213C= (p.Thr1071=) c.3189C= (p.Thr1063=) c.3024C= (p.Thr1008=) c.3186C= (p.Thr1062=) | |
| 1 | g.16986809G>T | CA416093546 | ATP13A2 | c.3231C>A (p.Thr1077=) c.3099C>A (p.Thr1033=) c.3216C>A (p.Thr1072=) n.1105C>A c.819C>A (p.Thr273=) c.3228C>A (p.Thr1076=) c.3204C>A (p.Thr1068=) c.3171C>A (p.Thr1057=) c.3114C>A (p.Thr1038=) c.3213C>A (p.Thr1071=) c.3189C>A (p.Thr1063=) c.3024C>A (p.Thr1008=) c.3186C>A (p.Thr1062=) | gnomAD v4 |
| 1 | g.16986810G>A | CA338233275 | ATP13A2 | c.3230C>T (p.Thr1077Ile) c.3098C>T (p.Thr1033Ile) c.3215C>T (p.Thr1072Ile) n.1104C>T c.818C>T (p.Thr273Ile) c.3227C>T (p.Thr1076Ile) c.3203C>T (p.Thr1068Ile) c.3170C>T (p.Thr1057Ile) c.3113C>T (p.Thr1038Ile) c.3212C>T (p.Thr1071Ile) c.3188C>T (p.Thr1063Ile) c.3023C>T (p.Thr1008Ile) c.3185C>T (p.Thr1062Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.16986810G>C | CA338233276 | ATP13A2 | c.3230C>G (p.Thr1077Ser) c.3098C>G (p.Thr1033Ser) c.3215C>G (p.Thr1072Ser) n.1104C>G c.818C>G (p.Thr273Ser) c.3227C>G (p.Thr1076Ser) c.3203C>G (p.Thr1068Ser) c.3170C>G (p.Thr1057Ser) c.3113C>G (p.Thr1038Ser) c.3212C>G (p.Thr1071Ser) c.3188C>G (p.Thr1063Ser) c.3023C>G (p.Thr1008Ser) c.3185C>G (p.Thr1062Ser) | |
| 1 | g.16986810G= | CA1156050328 | ATP13A2 | c.3230C= (p.Thr1077=) c.3098C= (p.Thr1033=) c.3215C= (p.Thr1072=) n.1104C= c.818C= (p.Thr273=) c.3227C= (p.Thr1076=) c.3203C= (p.Thr1068=) c.3170C= (p.Thr1057=) c.3113C= (p.Thr1038=) c.3212C= (p.Thr1071=) c.3188C= (p.Thr1063=) c.3023C= (p.Thr1008=) c.3185C= (p.Thr1062=) | |
| 1 | g.16986810G>T | CA338233277 | ATP13A2 | c.3230C>A (p.Thr1077Asn) c.3098C>A (p.Thr1033Asn) c.3215C>A (p.Thr1072Asn) n.1104C>A c.818C>A (p.Thr273Asn) c.3227C>A (p.Thr1076Asn) c.3203C>A (p.Thr1068Asn) c.3170C>A (p.Thr1057Asn) c.3113C>A (p.Thr1038Asn) c.3212C>A (p.Thr1071Asn) c.3188C>A (p.Thr1063Asn) c.3023C>A (p.Thr1008Asn) c.3185C>A (p.Thr1062Asn) | gnomAD v4 |
| 1 | g.16986811T>A | CA338233279 | ATP13A2 | c.3229A>T (p.Thr1077Ser) c.3097A>T (p.Thr1033Ser) c.3214A>T (p.Thr1072Ser) n.1103A>T c.817A>T (p.Thr273Ser) c.3226A>T (p.Thr1076Ser) c.3202A>T (p.Thr1068Ser) c.3169A>T (p.Thr1057Ser) c.3112A>T (p.Thr1038Ser) c.3211A>T (p.Thr1071Ser) c.3187A>T (p.Thr1063Ser) c.3022A>T (p.Thr1008Ser) c.3184A>T (p.Thr1062Ser) | |
| 1 | g.16986811T>C | CA338233280 | ATP13A2 | c.3229A>G (p.Thr1077Ala) c.3097A>G (p.Thr1033Ala) c.3214A>G (p.Thr1072Ala) n.1103A>G c.817A>G (p.Thr273Ala) c.3226A>G (p.Thr1076Ala) c.3202A>G (p.Thr1068Ala) c.3169A>G (p.Thr1057Ala) c.3112A>G (p.Thr1038Ala) c.3211A>G (p.Thr1071Ala) c.3187A>G (p.Thr1063Ala) c.3022A>G (p.Thr1008Ala) c.3184A>G (p.Thr1062Ala) | |
| 1 | g.16986811T>G | CA338233282 | ATP13A2 | c.3229A>C (p.Thr1077Pro) c.3097A>C (p.Thr1033Pro) c.3214A>C (p.Thr1072Pro) n.1103A>C c.817A>C (p.Thr273Pro) c.3226A>C (p.Thr1076Pro) c.3202A>C (p.Thr1068Pro) c.3169A>C (p.Thr1057Pro) c.3112A>C (p.Thr1038Pro) c.3211A>C (p.Thr1071Pro) c.3187A>C (p.Thr1063Pro) c.3022A>C (p.Thr1008Pro) c.3184A>C (p.Thr1062Pro) | |
| 1 | g.16986812G>A | CA18625617 | ATP13A2 | c.3228C>T (p.Tyr1076=) c.3096C>T (p.Tyr1032=) c.3213C>T (p.Tyr1071=) n.1102C>T c.816C>T (p.Tyr272=) c.3225C>T (p.Tyr1075=) c.3201C>T (p.Tyr1067=) c.3168C>T (p.Tyr1056=) c.3111C>T (p.Tyr1037=) c.3210C>T (p.Tyr1070=) c.3186C>T (p.Tyr1062=) c.3021C>T (p.Tyr1007=) c.3183C>T (p.Tyr1061=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16986812G>C | CA338233285 | ATP13A2 | c.3228C>G (p.Tyr1076Ter) c.3096C>G (p.Tyr1032Ter) c.3213C>G (p.Tyr1071Ter) n.1102C>G c.816C>G (p.Tyr272Ter) c.3225C>G (p.Tyr1075Ter) c.3201C>G (p.Tyr1067Ter) c.3168C>G (p.Tyr1056Ter) c.3111C>G (p.Tyr1037Ter) c.3210C>G (p.Tyr1070Ter) c.3186C>G (p.Tyr1062Ter) c.3021C>G (p.Tyr1007Ter) c.3183C>G (p.Tyr1061Ter) | |
| 1 | g.16986812G= | CA1156050333 | ATP13A2 | c.3228C= (p.Tyr1076=) c.3096C= (p.Tyr1032=) c.3213C= (p.Tyr1071=) n.1102C= c.816C= (p.Tyr272=) c.3225C= (p.Tyr1075=) c.3201C= (p.Tyr1067=) c.3168C= (p.Tyr1056=) c.3111C= (p.Tyr1037=) c.3210C= (p.Tyr1070=) c.3186C= (p.Tyr1062=) c.3021C= (p.Tyr1007=) c.3183C= (p.Tyr1061=) | |
| 1 | g.16986812G>T | CA338233286 | ATP13A2 | c.3228C>A (p.Tyr1076Ter) c.3096C>A (p.Tyr1032Ter) c.3213C>A (p.Tyr1071Ter) n.1102C>A c.816C>A (p.Tyr272Ter) c.3225C>A (p.Tyr1075Ter) c.3201C>A (p.Tyr1067Ter) c.3168C>A (p.Tyr1056Ter) c.3111C>A (p.Tyr1037Ter) c.3210C>A (p.Tyr1070Ter) c.3186C>A (p.Tyr1062Ter) c.3021C>A (p.Tyr1007Ter) c.3183C>A (p.Tyr1061Ter) | |
| 1 | g.16986813T>A | CA338233288 | ATP13A2 | c.3227A>T (p.Tyr1076Phe) c.3095A>T (p.Tyr1032Phe) c.3212A>T (p.Tyr1071Phe) n.1101A>T c.815A>T (p.Tyr272Phe) c.3224A>T (p.Tyr1075Phe) c.3200A>T (p.Tyr1067Phe) c.3167A>T (p.Tyr1056Phe) c.3110A>T (p.Tyr1037Phe) c.3209A>T (p.Tyr1070Phe) c.3185A>T (p.Tyr1062Phe) c.3020A>T (p.Tyr1007Phe) c.3182A>T (p.Tyr1061Phe) | |
| 1 | g.16986813T>C | CA338233289 | ATP13A2 | c.3227A>G (p.Tyr1076Cys) c.3095A>G (p.Tyr1032Cys) c.3212A>G (p.Tyr1071Cys) n.1101A>G c.815A>G (p.Tyr272Cys) c.3224A>G (p.Tyr1075Cys) c.3200A>G (p.Tyr1067Cys) c.3167A>G (p.Tyr1056Cys) c.3110A>G (p.Tyr1037Cys) c.3209A>G (p.Tyr1070Cys) c.3185A>G (p.Tyr1062Cys) c.3020A>G (p.Tyr1007Cys) c.3182A>G (p.Tyr1061Cys) | |
| 1 | g.16986813T>G | CA338233290 | ATP13A2 | c.3227A>C (p.Tyr1076Ser) c.3095A>C (p.Tyr1032Ser) c.3212A>C (p.Tyr1071Ser) n.1101A>C c.815A>C (p.Tyr272Ser) c.3224A>C (p.Tyr1075Ser) c.3200A>C (p.Tyr1067Ser) c.3167A>C (p.Tyr1056Ser) c.3110A>C (p.Tyr1037Ser) c.3209A>C (p.Tyr1070Ser) c.3185A>C (p.Tyr1062Ser) c.3020A>C (p.Tyr1007Ser) c.3182A>C (p.Tyr1061Ser) | |
| 1 | g.16986814A>C | CA338233296 | ATP13A2 | c.3226T>G (p.Tyr1076Asp) c.3094T>G (p.Tyr1032Asp) c.3211T>G (p.Tyr1071Asp) n.1100T>G c.814T>G (p.Tyr272Asp) c.3223T>G (p.Tyr1075Asp) c.3199T>G (p.Tyr1067Asp) c.3166T>G (p.Tyr1056Asp) c.3109T>G (p.Tyr1037Asp) c.3208T>G (p.Tyr1070Asp) c.3184T>G (p.Tyr1062Asp) c.3019T>G (p.Tyr1007Asp) c.3181T>G (p.Tyr1061Asp) | |
| 1 | g.16986814A>G | CA338233294 | ATP13A2 | c.3226T>C (p.Tyr1076His) c.3094T>C (p.Tyr1032His) c.3211T>C (p.Tyr1071His) n.1100T>C c.814T>C (p.Tyr272His) c.3223T>C (p.Tyr1075His) c.3199T>C (p.Tyr1067His) c.3166T>C (p.Tyr1056His) c.3109T>C (p.Tyr1037His) c.3208T>C (p.Tyr1070His) c.3184T>C (p.Tyr1062His) c.3019T>C (p.Tyr1007His) c.3181T>C (p.Tyr1061His) | |
| 1 | g.16986814A>T | CA338233291 | ATP13A2 | c.3226T>A (p.Tyr1076Asn) c.3094T>A (p.Tyr1032Asn) c.3211T>A (p.Tyr1071Asn) n.1100T>A c.814T>A (p.Tyr272Asn) c.3223T>A (p.Tyr1075Asn) c.3199T>A (p.Tyr1067Asn) c.3166T>A (p.Tyr1056Asn) c.3109T>A (p.Tyr1037Asn) c.3208T>A (p.Tyr1070Asn) c.3184T>A (p.Tyr1062Asn) c.3019T>A (p.Tyr1007Asn) c.3181T>A (p.Tyr1061Asn) | |
| 1 | g.16986815G>A | CA416093550 | ATP13A2 | c.3225C>T (p.Leu1075=) c.3093C>T (p.Leu1031=) c.3210C>T (p.Leu1070=) n.1099C>T c.813C>T (p.Leu271=) c.3222C>T (p.Leu1074=) c.3198C>T (p.Leu1066=) c.3165C>T (p.Leu1055=) c.3108C>T (p.Leu1036=) c.3207C>T (p.Leu1069=) c.3183C>T (p.Leu1061=) c.3018C>T (p.Leu1006=) c.3180C>T (p.Leu1060=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.16986815G>C | CA416093552 | ATP13A2 | c.3225C>G (p.Leu1075=) c.3093C>G (p.Leu1031=) c.3210C>G (p.Leu1070=) n.1099C>G c.813C>G (p.Leu271=) c.3222C>G (p.Leu1074=) c.3198C>G (p.Leu1066=) c.3165C>G (p.Leu1055=) c.3108C>G (p.Leu1036=) c.3207C>G (p.Leu1069=) c.3183C>G (p.Leu1061=) c.3018C>G (p.Leu1006=) c.3180C>G (p.Leu1060=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.16986815G= | CA1156050337 | ATP13A2 | c.3225C= (p.Leu1075=) c.3093C= (p.Leu1031=) c.3210C= (p.Leu1070=) n.1099C= c.813C= (p.Leu271=) c.3222C= (p.Leu1074=) c.3198C= (p.Leu1066=) c.3165C= (p.Leu1055=) c.3108C= (p.Leu1036=) c.3207C= (p.Leu1069=) c.3183C= (p.Leu1061=) c.3018C= (p.Leu1006=) c.3180C= (p.Leu1060=) | |
| 1 | g.16986815G>T | CA416093551 | ATP13A2 | c.3225C>A (p.Leu1075=) c.3093C>A (p.Leu1031=) c.3210C>A (p.Leu1070=) n.1099C>A c.813C>A (p.Leu271=) c.3222C>A (p.Leu1074=) c.3198C>A (p.Leu1066=) c.3165C>A (p.Leu1055=) c.3108C>A (p.Leu1036=) c.3207C>A (p.Leu1069=) c.3183C>A (p.Leu1061=) c.3018C>A (p.Leu1006=) c.3180C>A (p.Leu1060=) | |
| 1 | g.16986816A>C | CA338233297 | ATP13A2 | c.3224T>G (p.Leu1075Arg) c.3092T>G (p.Leu1031Arg) c.3209T>G (p.Leu1070Arg) n.1098T>G c.812T>G (p.Leu271Arg) c.3221T>G (p.Leu1074Arg) c.3197T>G (p.Leu1066Arg) c.3164T>G (p.Leu1055Arg) c.3107T>G (p.Leu1036Arg) c.3206T>G (p.Leu1069Arg) c.3182T>G (p.Leu1061Arg) c.3017T>G (p.Leu1006Arg) c.3179T>G (p.Leu1060Arg) | |
| 1 | g.16986816A>G | CA338233299 | ATP13A2 | c.3224T>C (p.Leu1075Pro) c.3092T>C (p.Leu1031Pro) c.3209T>C (p.Leu1070Pro) n.1098T>C c.812T>C (p.Leu271Pro) c.3221T>C (p.Leu1074Pro) c.3197T>C (p.Leu1066Pro) c.3164T>C (p.Leu1055Pro) c.3107T>C (p.Leu1036Pro) c.3206T>C (p.Leu1069Pro) c.3182T>C (p.Leu1061Pro) c.3017T>C (p.Leu1006Pro) c.3179T>C (p.Leu1060Pro) | |
| 1 | g.16986816A>T | CA338233301 | ATP13A2 | c.3224T>A (p.Leu1075His) c.3092T>A (p.Leu1031His) c.3209T>A (p.Leu1070His) n.1098T>A c.812T>A (p.Leu271His) c.3221T>A (p.Leu1074His) c.3197T>A (p.Leu1066His) c.3164T>A (p.Leu1055His) c.3107T>A (p.Leu1036His) c.3206T>A (p.Leu1069His) c.3182T>A (p.Leu1061His) c.3017T>A (p.Leu1006His) c.3179T>A (p.Leu1060His) | |
| 1 | g.16986817G>A | CA338233303 | ATP13A2 | c.3223C>T (p.Leu1075Phe) c.3091C>T (p.Leu1031Phe) c.3208C>T (p.Leu1070Phe) n.1097C>T c.811C>T (p.Leu271Phe) c.3220C>T (p.Leu1074Phe) c.3196C>T (p.Leu1066Phe) c.3163C>T (p.Leu1055Phe) c.3106C>T (p.Leu1036Phe) c.3205C>T (p.Leu1069Phe) c.3181C>T (p.Leu1061Phe) c.3016C>T (p.Leu1006Phe) c.3178C>T (p.Leu1060Phe) | |
| 1 | g.16986817G>C | CA338233304 | ATP13A2 | c.3223C>G (p.Leu1075Val) c.3091C>G (p.Leu1031Val) c.3208C>G (p.Leu1070Val) n.1097C>G c.811C>G (p.Leu271Val) c.3220C>G (p.Leu1074Val) c.3196C>G (p.Leu1066Val) c.3163C>G (p.Leu1055Val) c.3106C>G (p.Leu1036Val) c.3205C>G (p.Leu1069Val) c.3181C>G (p.Leu1061Val) c.3016C>G (p.Leu1006Val) c.3178C>G (p.Leu1060Val) | |
| 1 | g.16986817G>T | CA338233307 | ATP13A2 | c.3223C>A (p.Leu1075Ile) c.3091C>A (p.Leu1031Ile) c.3208C>A (p.Leu1070Ile) n.1097C>A c.811C>A (p.Leu271Ile) c.3220C>A (p.Leu1074Ile) c.3196C>A (p.Leu1066Ile) c.3163C>A (p.Leu1055Ile) c.3106C>A (p.Leu1036Ile) c.3205C>A (p.Leu1069Ile) c.3181C>A (p.Leu1061Ile) c.3016C>A (p.Leu1006Ile) c.3178C>A (p.Leu1060Ile) | gnomAD v3 gnomAD v4 |
| 1 | g.16986818C>A | CA416093556 | ATP13A2 | c.3222G>T (p.Pro1074=) c.3090G>T (p.Pro1030=) c.3207G>T (p.Pro1069=) n.1096G>T c.810G>T (p.Pro270=) c.3219G>T (p.Pro1073=) c.3195G>T (p.Pro1065=) c.3162G>T (p.Pro1054=) c.3105G>T (p.Pro1035=) c.3204G>T (p.Pro1068=) c.3180G>T (p.Pro1060=) c.3015G>T (p.Pro1005=) c.3177G>T (p.Pro1059=) | |
| 1 | g.16986818C= | CA1143898418 | ATP13A2 | c.3222G= (p.Pro1074=) c.3090G= (p.Pro1030=) c.3207G= (p.Pro1069=) n.1096G= c.810G= (p.Pro270=) c.3219G= (p.Pro1073=) c.3195G= (p.Pro1065=) c.3162G= (p.Pro1054=) c.3105G= (p.Pro1035=) c.3204G= (p.Pro1068=) c.3180G= (p.Pro1060=) c.3015G= (p.Pro1005=) c.3177G= (p.Pro1059=) | |
| 1 | g.16986818C>G | CA636573 | ATP13A2 | c.3222G>C (p.Pro1074=) c.3090G>C (p.Pro1030=) c.3207G>C (p.Pro1069=) n.1096G>C c.810G>C (p.Pro270=) c.3219G>C (p.Pro1073=) c.3195G>C (p.Pro1065=) c.3162G>C (p.Pro1054=) c.3105G>C (p.Pro1035=) c.3204G>C (p.Pro1068=) c.3180G>C (p.Pro1060=) c.3015G>C (p.Pro1005=) c.3177G>C (p.Pro1059=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16986818C>T | CA636572 | ATP13A2 | c.3222G>A (p.Pro1074=) c.3090G>A (p.Pro1030=) c.3207G>A (p.Pro1069=) n.1096G>A c.810G>A (p.Pro270=) c.3219G>A (p.Pro1073=) c.3195G>A (p.Pro1065=) c.3162G>A (p.Pro1054=) c.3105G>A (p.Pro1035=) c.3204G>A (p.Pro1068=) c.3180G>A (p.Pro1060=) c.3015G>A (p.Pro1005=) c.3177G>A (p.Pro1059=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16986819G>A | CA636574 | ATP13A2 | c.3221C>T (p.Pro1074Leu) c.3089C>T (p.Pro1030Leu) c.3206C>T (p.Pro1069Leu) n.1095C>T c.809C>T (p.Pro270Leu) c.3218C>T (p.Pro1073Leu) c.3194C>T (p.Pro1065Leu) c.3161C>T (p.Pro1054Leu) c.3104C>T (p.Pro1035Leu) c.3203C>T (p.Pro1068Leu) c.3179C>T (p.Pro1060Leu) c.3014C>T (p.Pro1005Leu) c.3176C>T (p.Pro1059Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.16986819G>C | CA338233312 | ATP13A2 | c.3221C>G (p.Pro1074Arg) c.3089C>G (p.Pro1030Arg) c.3206C>G (p.Pro1069Arg) n.1095C>G c.809C>G (p.Pro270Arg) c.3218C>G (p.Pro1073Arg) c.3194C>G (p.Pro1065Arg) c.3161C>G (p.Pro1054Arg) c.3104C>G (p.Pro1035Arg) c.3203C>G (p.Pro1068Arg) c.3179C>G (p.Pro1060Arg) c.3014C>G (p.Pro1005Arg) c.3176C>G (p.Pro1059Arg) | |
| 1 | g.16986819G= | CA1156050348 | ATP13A2 | c.3221C= (p.Pro1074=) c.3089C= (p.Pro1030=) c.3206C= (p.Pro1069=) n.1095C= c.809C= (p.Pro270=) c.3218C= (p.Pro1073=) c.3194C= (p.Pro1065=) c.3161C= (p.Pro1054=) c.3104C= (p.Pro1035=) c.3203C= (p.Pro1068=) c.3179C= (p.Pro1060=) c.3014C= (p.Pro1005=) c.3176C= (p.Pro1059=) | |
| 1 | g.16986819G>T | CA338233313 | ATP13A2 | c.3221C>A (p.Pro1074Gln) c.3089C>A (p.Pro1030Gln) c.3206C>A (p.Pro1069Gln) n.1095C>A c.809C>A (p.Pro270Gln) c.3218C>A (p.Pro1073Gln) c.3194C>A (p.Pro1065Gln) c.3161C>A (p.Pro1054Gln) c.3104C>A (p.Pro1035Gln) c.3203C>A (p.Pro1068Gln) c.3179C>A (p.Pro1060Gln) c.3014C>A (p.Pro1005Gln) c.3176C>A (p.Pro1059Gln) | |
| 1 | g.16986819_16986820del | CA999085388 | ATP13A2 | c.3220_3221del (p.Pro1074AlafsTer?) c.3088_3089del (p.Pro1030AlafsTer5) c.3205_3206del (p.Pro1069AlafsTer?) n.1094_1095del c.808_809del (p.Pro270AlafsTer5) c.3220_3221del (p.Pro1074AlafsTer5) c.3217_3218del (p.Pro1073AlafsTer5) c.3205_3206del (p.Pro1069AlafsTer5) c.3193_3194del (p.Pro1065AlafsTer5) c.3160_3161del (p.Pro1054AlafsTer5) c.3103_3104del (p.Pro1035AlafsTer5) c.3202_3203del (p.Pro1068AlafsTer5) c.3178_3179del (p.Pro1060AlafsTer5) c.3013_3014del (p.Pro1005AlafsTer5) c.3202_3203del (p.Pro1068AlafsTer?) c.3178_3179del (p.Pro1060AlafsTer?) c.3175_3176del (p.Pro1059AlafsTer?) c.3103_3104del (p.Pro1035AlafsTer?) c.3088_3089del (p.Pro1030AlafsTer?) c.3013_3014del (p.Pro1005AlafsTer?) | gnomAD v3 gnomAD v4 |
| 1 | g.16986820G>A | CA338233316 | ATP13A2 | c.3220C>T (p.Pro1074Ser) c.3088C>T (p.Pro1030Ser) c.3205C>T (p.Pro1069Ser) n.1094C>T c.808C>T (p.Pro270Ser) c.3217C>T (p.Pro1073Ser) c.3193C>T (p.Pro1065Ser) c.3160C>T (p.Pro1054Ser) c.3103C>T (p.Pro1035Ser) c.3202C>T (p.Pro1068Ser) c.3178C>T (p.Pro1060Ser) c.3013C>T (p.Pro1005Ser) c.3175C>T (p.Pro1059Ser) | |
| 1 | g.16986820G>C | CA338233315 | ATP13A2 | c.3220C>G (p.Pro1074Ala) c.3088C>G (p.Pro1030Ala) c.3205C>G (p.Pro1069Ala) n.1094C>G c.808C>G (p.Pro270Ala) c.3217C>G (p.Pro1073Ala) c.3193C>G (p.Pro1065Ala) c.3160C>G (p.Pro1054Ala) c.3103C>G (p.Pro1035Ala) c.3202C>G (p.Pro1068Ala) c.3178C>G (p.Pro1060Ala) c.3013C>G (p.Pro1005Ala) c.3175C>G (p.Pro1059Ala) |