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.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.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) | |
| 1 | g.16986820G>T | CA338233314 | ATP13A2 | c.3220C>A (p.Pro1074Thr) c.3088C>A (p.Pro1030Thr) c.3205C>A (p.Pro1069Thr) n.1094C>A c.808C>A (p.Pro270Thr) c.3217C>A (p.Pro1073Thr) c.3193C>A (p.Pro1065Thr) c.3160C>A (p.Pro1054Thr) c.3103C>A (p.Pro1035Thr) c.3202C>A (p.Pro1068Thr) c.3178C>A (p.Pro1060Thr) c.3013C>A (p.Pro1005Thr) c.3175C>A (p.Pro1059Thr) | |
| 1 | g.16986821C>A | CA416093557 | ATP13A2 | c.3219G>T (p.Arg1073=) c.3087G>T (p.Arg1029=) c.3204G>T (p.Arg1068=) n.1093G>T c.807G>T (p.Arg269=) c.3216G>T (p.Arg1072=) c.3192G>T (p.Arg1064=) c.3159G>T (p.Arg1053=) c.3102G>T (p.Arg1034=) c.3201G>T (p.Arg1067=) c.3177G>T (p.Arg1059=) c.3012G>T (p.Arg1004=) c.3174G>T (p.Arg1058=) | |
| 1 | g.16986821C= | CA1156050353 | ATP13A2 | c.3219G= (p.Arg1073=) c.3087G= (p.Arg1029=) c.3204G= (p.Arg1068=) n.1093G= c.807G= (p.Arg269=) c.3216G= (p.Arg1072=) c.3192G= (p.Arg1064=) c.3159G= (p.Arg1053=) c.3102G= (p.Arg1034=) c.3201G= (p.Arg1067=) c.3177G= (p.Arg1059=) c.3012G= (p.Arg1004=) c.3174G= (p.Arg1058=) | |
| 1 | g.16986821C>G | CA416093558 | ATP13A2 | c.3219G>C (p.Arg1073=) c.3087G>C (p.Arg1029=) c.3204G>C (p.Arg1068=) n.1093G>C c.807G>C (p.Arg269=) c.3216G>C (p.Arg1072=) c.3192G>C (p.Arg1064=) c.3159G>C (p.Arg1053=) c.3102G>C (p.Arg1034=) c.3201G>C (p.Arg1067=) c.3177G>C (p.Arg1059=) c.3012G>C (p.Arg1004=) c.3174G>C (p.Arg1058=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.16986821C>T | CA416093559 | ATP13A2 | c.3219G>A (p.Arg1073=) c.3087G>A (p.Arg1029=) c.3204G>A (p.Arg1068=) n.1093G>A c.807G>A (p.Arg269=) c.3216G>A (p.Arg1072=) c.3192G>A (p.Arg1064=) c.3159G>A (p.Arg1053=) c.3102G>A (p.Arg1034=) c.3201G>A (p.Arg1067=) c.3177G>A (p.Arg1059=) c.3012G>A (p.Arg1004=) c.3174G>A (p.Arg1058=) | gnomAD v3 gnomAD v4 |
| 1 | g.16986822C>A | CA338233318 | ATP13A2 | c.3218G>T (p.Arg1073Leu) c.3086G>T (p.Arg1029Leu) c.3203G>T (p.Arg1068Leu) n.1092G>T c.806G>T (p.Arg269Leu) c.3215G>T (p.Arg1072Leu) c.3191G>T (p.Arg1064Leu) c.3158G>T (p.Arg1053Leu) c.3101G>T (p.Arg1034Leu) c.3200G>T (p.Arg1067Leu) c.3176G>T (p.Arg1059Leu) c.3011G>T (p.Arg1004Leu) c.3173G>T (p.Arg1058Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.16986822C= | CA1148571456 | ATP13A2 | c.3218G= (p.Arg1073=) c.3086G= (p.Arg1029=) c.3203G= (p.Arg1068=) n.1092G= c.806G= (p.Arg269=) c.3215G= (p.Arg1072=) c.3191G= (p.Arg1064=) c.3158G= (p.Arg1053=) c.3101G= (p.Arg1034=) c.3200G= (p.Arg1067=) c.3176G= (p.Arg1059=) c.3011G= (p.Arg1004=) c.3173G= (p.Arg1058=) | |
| 1 | g.16986822C>G | CA338233320 | ATP13A2 | c.3218G>C (p.Arg1073Pro) c.3086G>C (p.Arg1029Pro) c.3203G>C (p.Arg1068Pro) n.1092G>C c.806G>C (p.Arg269Pro) c.3215G>C (p.Arg1072Pro) c.3191G>C (p.Arg1064Pro) c.3158G>C (p.Arg1053Pro) c.3101G>C (p.Arg1034Pro) c.3200G>C (p.Arg1067Pro) c.3176G>C (p.Arg1059Pro) c.3011G>C (p.Arg1004Pro) c.3173G>C (p.Arg1058Pro) | |
| 1 | g.16986822C>T | CA636575 | ATP13A2 | c.3218G>A (p.Arg1073Gln) c.3086G>A (p.Arg1029Gln) c.3203G>A (p.Arg1068Gln) n.1092G>A c.806G>A (p.Arg269Gln) c.3215G>A (p.Arg1072Gln) c.3191G>A (p.Arg1064Gln) c.3158G>A (p.Arg1053Gln) c.3101G>A (p.Arg1034Gln) c.3200G>A (p.Arg1067Gln) c.3176G>A (p.Arg1059Gln) c.3011G>A (p.Arg1004Gln) c.3173G>A (p.Arg1058Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16986823G>A | CA18625632 | ATP13A2 | c.3217C>T (p.Arg1073Trp) c.3085C>T (p.Arg1029Trp) c.3202C>T (p.Arg1068Trp) n.1091C>T c.805C>T (p.Arg269Trp) c.3214C>T (p.Arg1072Trp) c.3190C>T (p.Arg1064Trp) c.3157C>T (p.Arg1053Trp) c.3100C>T (p.Arg1034Trp) c.3199C>T (p.Arg1067Trp) c.3175C>T (p.Arg1059Trp) c.3010C>T (p.Arg1004Trp) c.3172C>T (p.Arg1058Trp) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.16986823G>C | CA338233321 | ATP13A2 | c.3217C>G (p.Arg1073Gly) c.3085C>G (p.Arg1029Gly) c.3202C>G (p.Arg1068Gly) n.1091C>G c.805C>G (p.Arg269Gly) c.3214C>G (p.Arg1072Gly) c.3190C>G (p.Arg1064Gly) c.3157C>G (p.Arg1053Gly) c.3100C>G (p.Arg1034Gly) c.3199C>G (p.Arg1067Gly) c.3175C>G (p.Arg1059Gly) c.3010C>G (p.Arg1004Gly) c.3172C>G (p.Arg1058Gly) | |
| 1 | g.16986823G= | CA1156050360 | ATP13A2 | c.3217C= (p.Arg1073=) c.3085C= (p.Arg1029=) c.3202C= (p.Arg1068=) n.1091C= c.805C= (p.Arg269=) c.3214C= (p.Arg1072=) c.3190C= (p.Arg1064=) c.3157C= (p.Arg1053=) c.3100C= (p.Arg1034=) c.3199C= (p.Arg1067=) c.3175C= (p.Arg1059=) c.3010C= (p.Arg1004=) c.3172C= (p.Arg1058=) | |
| 1 | g.16986823G>T | CA416093560 | ATP13A2 | c.3217C>A (p.Arg1073=) c.3085C>A (p.Arg1029=) c.3202C>A (p.Arg1068=) n.1091C>A c.805C>A (p.Arg269=) c.3214C>A (p.Arg1072=) c.3190C>A (p.Arg1064=) c.3157C>A (p.Arg1053=) c.3100C>A (p.Arg1034=) c.3199C>A (p.Arg1067=) c.3175C>A (p.Arg1059=) c.3010C>A (p.Arg1004=) c.3172C>A (p.Arg1058=) | gnomAD v4 |
| 1 | g.16986824G>A | CA416093561 | ATP13A2 | c.3216C>T (p.Arg1072=) c.3084C>T (p.Arg1028=) c.3201C>T (p.Arg1067=) n.1090C>T c.804C>T (p.Arg268=) c.3213C>T (p.Arg1071=) c.3189C>T (p.Arg1063=) c.3156C>T (p.Arg1052=) c.3099C>T (p.Arg1033=) c.3198C>T (p.Arg1066=) c.3174C>T (p.Arg1058=) c.3009C>T (p.Arg1003=) c.3171C>T (p.Arg1057=) | gnomAD v4 |
| 1 | g.16986824G>C | CA416093562 | ATP13A2 | c.3216C>G (p.Arg1072=) c.3084C>G (p.Arg1028=) c.3201C>G (p.Arg1067=) n.1090C>G c.804C>G (p.Arg268=) c.3213C>G (p.Arg1071=) c.3189C>G (p.Arg1063=) c.3156C>G (p.Arg1052=) c.3099C>G (p.Arg1033=) c.3198C>G (p.Arg1066=) c.3174C>G (p.Arg1058=) c.3009C>G (p.Arg1003=) c.3171C>G (p.Arg1057=) | |
| 1 | g.16986824G>T | CA416093563 | ATP13A2 | c.3216C>A (p.Arg1072=) c.3084C>A (p.Arg1028=) c.3201C>A (p.Arg1067=) n.1090C>A c.804C>A (p.Arg268=) c.3213C>A (p.Arg1071=) c.3189C>A (p.Arg1063=) c.3156C>A (p.Arg1052=) c.3099C>A (p.Arg1033=) c.3198C>A (p.Arg1066=) c.3174C>A (p.Arg1058=) c.3009C>A (p.Arg1003=) c.3171C>A (p.Arg1057=) | |
| 1 | g.16986825C>A | CA338233322 | ATP13A2 | c.3215G>T (p.Arg1072Leu) c.3083G>T (p.Arg1028Leu) c.3200G>T (p.Arg1067Leu) n.1089G>T c.803G>T (p.Arg268Leu) c.3212G>T (p.Arg1071Leu) c.3188G>T (p.Arg1063Leu) c.3155G>T (p.Arg1052Leu) c.3098G>T (p.Arg1033Leu) c.3197G>T (p.Arg1066Leu) c.3173G>T (p.Arg1058Leu) c.3008G>T (p.Arg1003Leu) c.3170G>T (p.Arg1057Leu) | |
| 1 | g.16986825C= | CA1143780832 | ATP13A2 | c.3215G= (p.Arg1072=) c.3083G= (p.Arg1028=) c.3200G= (p.Arg1067=) n.1089G= c.803G= (p.Arg268=) c.3212G= (p.Arg1071=) c.3188G= (p.Arg1063=) c.3155G= (p.Arg1052=) c.3098G= (p.Arg1033=) c.3197G= (p.Arg1066=) c.3173G= (p.Arg1058=) c.3008G= (p.Arg1003=) c.3170G= (p.Arg1057=) | |
| 1 | g.16986825C>G | CA338233323 | ATP13A2 | c.3215G>C (p.Arg1072Pro) c.3083G>C (p.Arg1028Pro) c.3200G>C (p.Arg1067Pro) n.1089G>C c.803G>C (p.Arg268Pro) c.3212G>C (p.Arg1071Pro) c.3188G>C (p.Arg1063Pro) c.3155G>C (p.Arg1052Pro) c.3098G>C (p.Arg1033Pro) c.3197G>C (p.Arg1066Pro) c.3173G>C (p.Arg1058Pro) c.3008G>C (p.Arg1003Pro) c.3170G>C (p.Arg1057Pro) | |
| 1 | g.16986825C>T | CA636576 | ATP13A2 | c.3215G>A (p.Arg1072His) c.3083G>A (p.Arg1028His) c.3200G>A (p.Arg1067His) n.1089G>A c.803G>A (p.Arg268His) c.3212G>A (p.Arg1071His) c.3188G>A (p.Arg1063His) c.3155G>A (p.Arg1052His) c.3098G>A (p.Arg1033His) c.3197G>A (p.Arg1066His) c.3173G>A (p.Arg1058His) c.3008G>A (p.Arg1003His) c.3170G>A (p.Arg1057His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16986825_16986828del | CA999085397 | ATP13A2 | c.3212_3215del (p.Phe1071SerfsTer17) c.3080_3083del (p.Phe1027SerfsTer?) c.3197_3200del (p.Phe1066SerfsTer17) n.1086_1089del c.800_803del (p.Phe267SerfsTer?) c.3212_3215del (p.Phe1071SerfsTer?) c.3209_3212del (p.Phe1070SerfsTer?) c.3197_3200del (p.Phe1066SerfsTer?) c.3185_3188del (p.Phe1062SerfsTer?) c.3152_3155del (p.Phe1051SerfsTer?) c.3095_3098del (p.Phe1032SerfsTer?) c.3194_3197del (p.Phe1065SerfsTer?) c.3170_3173del (p.Phe1057SerfsTer?) c.3005_3008del (p.Phe1002SerfsTer?) c.3194_3197del (p.Phe1065SerfsTer17) c.3170_3173del (p.Phe1057SerfsTer17) c.3167_3170del (p.Phe1056SerfsTer17) c.3095_3098del (p.Phe1032SerfsTer17) c.3080_3083del (p.Phe1027SerfsTer17) c.3005_3008del (p.Phe1002SerfsTer17) | gnomAD v3 gnomAD v4 |
| 1 | g.16986826G>A | CA636577 | ATP13A2 | c.3214C>T (p.Arg1072Cys) c.3082C>T (p.Arg1028Cys) c.3199C>T (p.Arg1067Cys) n.1088C>T c.802C>T (p.Arg268Cys) c.3211C>T (p.Arg1071Cys) c.3187C>T (p.Arg1063Cys) c.3154C>T (p.Arg1052Cys) c.3097C>T (p.Arg1033Cys) c.3196C>T (p.Arg1066Cys) c.3172C>T (p.Arg1058Cys) c.3007C>T (p.Arg1003Cys) c.3169C>T (p.Arg1057Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.16986826G>C | CA636578 | ATP13A2 | c.3214C>G (p.Arg1072Gly) c.3082C>G (p.Arg1028Gly) c.3199C>G (p.Arg1067Gly) n.1088C>G c.802C>G (p.Arg268Gly) c.3211C>G (p.Arg1071Gly) c.3187C>G (p.Arg1063Gly) c.3154C>G (p.Arg1052Gly) c.3097C>G (p.Arg1033Gly) c.3196C>G (p.Arg1066Gly) c.3172C>G (p.Arg1058Gly) c.3007C>G (p.Arg1003Gly) c.3169C>G (p.Arg1057Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.16986826G= | CA1156050373 | ATP13A2 | c.3214C= (p.Arg1072=) c.3082C= (p.Arg1028=) c.3199C= (p.Arg1067=) n.1088C= c.802C= (p.Arg268=) c.3211C= (p.Arg1071=) c.3187C= (p.Arg1063=) c.3154C= (p.Arg1052=) c.3097C= (p.Arg1033=) c.3196C= (p.Arg1066=) c.3172C= (p.Arg1058=) c.3007C= (p.Arg1003=) c.3169C= (p.Arg1057=) | |
| 1 | g.16986826G>T | CA338233325 | ATP13A2 | c.3214C>A (p.Arg1072Ser) c.3082C>A (p.Arg1028Ser) c.3199C>A (p.Arg1067Ser) n.1088C>A c.802C>A (p.Arg268Ser) c.3211C>A (p.Arg1071Ser) c.3187C>A (p.Arg1063Ser) c.3154C>A (p.Arg1052Ser) c.3097C>A (p.Arg1033Ser) c.3196C>A (p.Arg1066Ser) c.3172C>A (p.Arg1058Ser) c.3007C>A (p.Arg1003Ser) c.3169C>A (p.Arg1057Ser) | |
| 1 | g.16986827G>A | CA416093564 | ATP13A2 | c.3213C>T (p.Phe1071=) c.3081C>T (p.Phe1027=) c.3198C>T (p.Phe1066=) n.1087C>T c.801C>T (p.Phe267=) c.3210C>T (p.Phe1070=) c.3186C>T (p.Phe1062=) c.3153C>T (p.Phe1051=) c.3096C>T (p.Phe1032=) c.3195C>T (p.Phe1065=) c.3171C>T (p.Phe1057=) c.3006C>T (p.Phe1002=) c.3168C>T (p.Phe1056=) | |
| 1 | g.16986827G>C | CA338233327 | ATP13A2 | c.3213C>G (p.Phe1071Leu) c.3081C>G (p.Phe1027Leu) c.3198C>G (p.Phe1066Leu) n.1087C>G c.801C>G (p.Phe267Leu) c.3210C>G (p.Phe1070Leu) c.3186C>G (p.Phe1062Leu) c.3153C>G (p.Phe1051Leu) c.3096C>G (p.Phe1032Leu) c.3195C>G (p.Phe1065Leu) c.3171C>G (p.Phe1057Leu) c.3006C>G (p.Phe1002Leu) c.3168C>G (p.Phe1056Leu) | |
| 1 | g.16986827G>T | CA338233328 | ATP13A2 | c.3213C>A (p.Phe1071Leu) c.3081C>A (p.Phe1027Leu) c.3198C>A (p.Phe1066Leu) n.1087C>A c.801C>A (p.Phe267Leu) c.3210C>A (p.Phe1070Leu) c.3186C>A (p.Phe1062Leu) c.3153C>A (p.Phe1051Leu) c.3096C>A (p.Phe1032Leu) c.3195C>A (p.Phe1065Leu) c.3171C>A (p.Phe1057Leu) c.3006C>A (p.Phe1002Leu) c.3168C>A (p.Phe1056Leu) | |
| 1 | g.16986828A>C | CA338233333 | ATP13A2 | c.3212T>G (p.Phe1071Cys) c.3080T>G (p.Phe1027Cys) c.3197T>G (p.Phe1066Cys) n.1086T>G c.800T>G (p.Phe267Cys) c.3209T>G (p.Phe1070Cys) c.3185T>G (p.Phe1062Cys) c.3152T>G (p.Phe1051Cys) c.3095T>G (p.Phe1032Cys) c.3194T>G (p.Phe1065Cys) c.3170T>G (p.Phe1057Cys) c.3005T>G (p.Phe1002Cys) c.3167T>G (p.Phe1056Cys) | |
| 1 | g.16986828A>G | CA338233334 | ATP13A2 | c.3212T>C (p.Phe1071Ser) c.3080T>C (p.Phe1027Ser) c.3197T>C (p.Phe1066Ser) n.1086T>C c.800T>C (p.Phe267Ser) c.3209T>C (p.Phe1070Ser) c.3185T>C (p.Phe1062Ser) c.3152T>C (p.Phe1051Ser) c.3095T>C (p.Phe1032Ser) c.3194T>C (p.Phe1065Ser) c.3170T>C (p.Phe1057Ser) c.3005T>C (p.Phe1002Ser) c.3167T>C (p.Phe1056Ser) | |
| 1 | g.16986828A>T | CA338233331 | ATP13A2 | c.3212T>A (p.Phe1071Tyr) c.3080T>A (p.Phe1027Tyr) c.3197T>A (p.Phe1066Tyr) n.1086T>A c.800T>A (p.Phe267Tyr) c.3209T>A (p.Phe1070Tyr) c.3185T>A (p.Phe1062Tyr) c.3152T>A (p.Phe1051Tyr) c.3095T>A (p.Phe1032Tyr) c.3194T>A (p.Phe1065Tyr) c.3170T>A (p.Phe1057Tyr) c.3005T>A (p.Phe1002Tyr) c.3167T>A (p.Phe1056Tyr) | |
| 1 | g.16986829A= | CA1156050381 | ATP13A2 | c.3211T= (p.Phe1071=) c.3079T= (p.Phe1027=) c.3196T= (p.Phe1066=) n.1085T= c.799T= (p.Phe267=) c.3208T= (p.Phe1070=) c.3184T= (p.Phe1062=) c.3151T= (p.Phe1051=) c.3094T= (p.Phe1032=) c.3193T= (p.Phe1065=) c.3169T= (p.Phe1057=) c.3004T= (p.Phe1002=) c.3166T= (p.Phe1056=) |