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.16986140_16986148del | CA2643667908 | ATP13A2 | c.*80_*88del (n.*80_*88del) c.3321_3329del (p.Pro1108_Pro1110del) n.1669_1677del c.1041_1049del (p.Pro348_Pro350del) c.3453_3461del (p.Pro1152_Pro1154del) c.3450_3458del (p.Pro1151_Pro1153del) c.3438_3446del (p.Pro1147_Pro1149del) c.3426_3434del (p.Pro1143_Pro1145del) c.3393_3401del (p.Pro1132_Pro1134del) c.3336_3344del (p.Pro1113_Pro1115del) c.3435_3443del (p.Pro1146_Pro1148del) c.3411_3419del (p.Pro1138_Pro1140del) c.3246_3254del (p.Pro1083_Pro1085del) | gnomAD v4 |
| 1 | g.16986136G>A | CA338231314 | ATP13A2 | c.*85C>T (n.*85C>T) c.3326C>T (p.Pro1109Leu) n.1674C>T c.1046C>T (p.Pro349Leu) c.3458C>T (p.Pro1153Leu) c.3455C>T (p.Pro1152Leu) c.3443C>T (p.Pro1148Leu) c.3431C>T (p.Pro1144Leu) c.3398C>T (p.Pro1133Leu) c.3341C>T (p.Pro1114Leu) c.3440C>T (p.Pro1147Leu) c.3416C>T (p.Pro1139Leu) c.3251C>T (p.Pro1084Leu) | |
| 1 | g.16986136G>C | CA338231316 | ATP13A2 | c.*85C>G (n.*85C>G) c.3326C>G (p.Pro1109Arg) n.1674C>G c.1046C>G (p.Pro349Arg) c.3458C>G (p.Pro1153Arg) c.3455C>G (p.Pro1152Arg) c.3443C>G (p.Pro1148Arg) c.3431C>G (p.Pro1144Arg) c.3398C>G (p.Pro1133Arg) c.3341C>G (p.Pro1114Arg) c.3440C>G (p.Pro1147Arg) c.3416C>G (p.Pro1139Arg) c.3251C>G (p.Pro1084Arg) | |
| 1 | g.16986136G>T | CA338231322 | ATP13A2 | c.*85C>A (n.*85C>A) c.3326C>A (p.Pro1109Gln) n.1674C>A c.1046C>A (p.Pro349Gln) c.3458C>A (p.Pro1153Gln) c.3455C>A (p.Pro1152Gln) c.3443C>A (p.Pro1148Gln) c.3431C>A (p.Pro1144Gln) c.3398C>A (p.Pro1133Gln) c.3341C>A (p.Pro1114Gln) c.3440C>A (p.Pro1147Gln) c.3416C>A (p.Pro1139Gln) c.3251C>A (p.Pro1084Gln) | |
| 1 | g.16986137G>A | CA338231324 | ATP13A2 | c.*84C>T (n.*84C>T) c.3325C>T (p.Pro1109Ser) n.1673C>T c.1045C>T (p.Pro349Ser) c.3457C>T (p.Pro1153Ser) c.3454C>T (p.Pro1152Ser) c.3442C>T (p.Pro1148Ser) c.3430C>T (p.Pro1144Ser) c.3397C>T (p.Pro1133Ser) c.3340C>T (p.Pro1114Ser) c.3439C>T (p.Pro1147Ser) c.3415C>T (p.Pro1139Ser) c.3250C>T (p.Pro1084Ser) | |
| 1 | g.16986137G>C | CA338231325 | ATP13A2 | c.*84C>G (n.*84C>G) c.3325C>G (p.Pro1109Ala) n.1673C>G c.1045C>G (p.Pro349Ala) c.3457C>G (p.Pro1153Ala) c.3454C>G (p.Pro1152Ala) c.3442C>G (p.Pro1148Ala) c.3430C>G (p.Pro1144Ala) c.3397C>G (p.Pro1133Ala) c.3340C>G (p.Pro1114Ala) c.3439C>G (p.Pro1147Ala) c.3415C>G (p.Pro1139Ala) c.3250C>G (p.Pro1084Ala) | |
| 1 | g.16986137G= | CA1156048910 | ATP13A2 | c.*84C= (n.*84C=) c.3325C= (p.Pro1109=) n.1673C= c.1045C= (p.Pro349=) c.3457C= (p.Pro1153=) c.3454C= (p.Pro1152=) c.3442C= (p.Pro1148=) c.3430C= (p.Pro1144=) c.3397C= (p.Pro1133=) c.3340C= (p.Pro1114=) c.3439C= (p.Pro1147=) c.3415C= (p.Pro1139=) c.3250C= (p.Pro1084=) | |
| 1 | g.16986137G>T | CA338231326 | ATP13A2 | c.*84C>A (n.*84C>A) c.3325C>A (p.Pro1109Thr) n.1673C>A c.1045C>A (p.Pro349Thr) c.3457C>A (p.Pro1153Thr) c.3454C>A (p.Pro1152Thr) c.3442C>A (p.Pro1148Thr) c.3430C>A (p.Pro1144Thr) c.3397C>A (p.Pro1133Thr) c.3340C>A (p.Pro1114Thr) c.3439C>A (p.Pro1147Thr) c.3415C>A (p.Pro1139Thr) c.3250C>A (p.Pro1084Thr) | gnomAD v4 |
| 1 | g.16986138T>C | CA18624446 | ATP13A2 | c.*83A>G (n.*83A>G) c.3324A>G (p.Pro1108=) n.1672A>G c.1044A>G (p.Pro348=) c.3456A>G (p.Pro1152=) c.3453A>G (p.Pro1151=) c.3441A>G (p.Pro1147=) c.3429A>G (p.Pro1143=) c.3396A>G (p.Pro1132=) c.3339A>G (p.Pro1113=) c.3438A>G (p.Pro1146=) c.3414A>G (p.Pro1138=) c.3249A>G (p.Pro1083=) | dbSNP gnomAD v4 |
| 1 | g.16986138T= | CA1156048911 | ATP13A2 | c.*83A= (n.*83A=) c.3324A= (p.Pro1108=) n.1672A= c.1044A= (p.Pro348=) c.3456A= (p.Pro1152=) c.3453A= (p.Pro1151=) c.3441A= (p.Pro1147=) c.3429A= (p.Pro1143=) c.3396A= (p.Pro1132=) c.3339A= (p.Pro1113=) c.3438A= (p.Pro1146=) c.3414A= (p.Pro1138=) c.3249A= (p.Pro1083=) | |
| 1 | g.16986138dup | CA999084957 | ATP13A2 | c.*83dup (n.*83dup) c.3324dup (p.Pro1109ThrfsTer26) n.1672dup c.1044dup (p.Pro349ThrfsTer26) c.3456dup (p.Pro1153ThrfsTer26) c.3453dup (p.Pro1152ThrfsTer26) c.3441dup (p.Pro1148ThrfsTer26) c.3429dup (p.Pro1144ThrfsTer26) c.3396dup (p.Pro1133ThrfsTer26) c.3339dup (p.Pro1114ThrfsTer26) c.3438dup (p.Pro1147ThrfsTer26) c.3414dup (p.Pro1139ThrfsTer26) c.3249dup (p.Pro1084ThrfsTer26) | dbSNP |
| 1 | g.16986139G>A | CA338231327 | ATP13A2 | c.*82C>T (n.*82C>T) c.3323C>T (p.Pro1108Leu) n.1671C>T c.1043C>T (p.Pro348Leu) c.3455C>T (p.Pro1152Leu) c.3452C>T (p.Pro1151Leu) c.3440C>T (p.Pro1147Leu) c.3428C>T (p.Pro1143Leu) c.3395C>T (p.Pro1132Leu) c.3338C>T (p.Pro1113Leu) c.3437C>T (p.Pro1146Leu) c.3413C>T (p.Pro1138Leu) c.3248C>T (p.Pro1083Leu) | |
| 1 | g.16986139G>C | CA338231328 | ATP13A2 | c.*82C>G (n.*82C>G) c.3323C>G (p.Pro1108Arg) n.1671C>G c.1043C>G (p.Pro348Arg) c.3455C>G (p.Pro1152Arg) c.3452C>G (p.Pro1151Arg) c.3440C>G (p.Pro1147Arg) c.3428C>G (p.Pro1143Arg) c.3395C>G (p.Pro1132Arg) c.3338C>G (p.Pro1113Arg) c.3437C>G (p.Pro1146Arg) c.3413C>G (p.Pro1138Arg) c.3248C>G (p.Pro1083Arg) | |
| 1 | g.16986139G>T | CA338231329 | ATP13A2 | c.*82C>A (n.*82C>A) c.3323C>A (p.Pro1108Gln) n.1671C>A c.1043C>A (p.Pro348Gln) c.3455C>A (p.Pro1152Gln) c.3452C>A (p.Pro1151Gln) c.3440C>A (p.Pro1147Gln) c.3428C>A (p.Pro1143Gln) c.3395C>A (p.Pro1132Gln) c.3338C>A (p.Pro1113Gln) c.3437C>A (p.Pro1146Gln) c.3413C>A (p.Pro1138Gln) c.3248C>A (p.Pro1083Gln) | |
| 1 | g.16986140dup | CA2574234671 | ATP13A2 | c.*82dup (n.*82dup) c.3323dup (p.Pro1109ThrfsTer26) n.1671dup c.1043dup (p.Pro349ThrfsTer26) c.3455dup (p.Pro1153ThrfsTer26) c.3452dup (p.Pro1152ThrfsTer26) c.3440dup (p.Pro1148ThrfsTer26) c.3428dup (p.Pro1144ThrfsTer26) c.3395dup (p.Pro1133ThrfsTer26) c.3338dup (p.Pro1114ThrfsTer26) c.3437dup (p.Pro1147ThrfsTer26) c.3413dup (p.Pro1139ThrfsTer26) c.3248dup (p.Pro1084ThrfsTer26) | |
| 1 | g.16986140G>A | CA338231331 | ATP13A2 | c.*81C>T (n.*81C>T) c.3322C>T (p.Pro1108Ser) n.1670C>T c.1042C>T (p.Pro348Ser) c.3454C>T (p.Pro1152Ser) c.3451C>T (p.Pro1151Ser) c.3439C>T (p.Pro1147Ser) c.3427C>T (p.Pro1143Ser) c.3394C>T (p.Pro1132Ser) c.3337C>T (p.Pro1113Ser) c.3436C>T (p.Pro1146Ser) c.3412C>T (p.Pro1138Ser) c.3247C>T (p.Pro1083Ser) | |
| 1 | g.16986140G>C | CA338231333 | ATP13A2 | c.*81C>G (n.*81C>G) c.3322C>G (p.Pro1108Ala) n.1670C>G c.1042C>G (p.Pro348Ala) c.3454C>G (p.Pro1152Ala) c.3451C>G (p.Pro1151Ala) c.3439C>G (p.Pro1147Ala) c.3427C>G (p.Pro1143Ala) c.3394C>G (p.Pro1132Ala) c.3337C>G (p.Pro1113Ala) c.3436C>G (p.Pro1146Ala) c.3412C>G (p.Pro1138Ala) c.3247C>G (p.Pro1083Ala) | |
| 1 | g.16986140G>T | CA338231335 | ATP13A2 | c.*81C>A (n.*81C>A) c.3322C>A (p.Pro1108Thr) n.1670C>A c.1042C>A (p.Pro348Thr) c.3454C>A (p.Pro1152Thr) c.3451C>A (p.Pro1151Thr) c.3439C>A (p.Pro1147Thr) c.3427C>A (p.Pro1143Thr) c.3394C>A (p.Pro1132Thr) c.3337C>A (p.Pro1113Thr) c.3436C>A (p.Pro1146Thr) c.3412C>A (p.Pro1138Thr) c.3247C>A (p.Pro1083Thr) | |
| 1 | g.16986141C>A | CA1156048914 | ATP13A2 | c.*80G>T (n.*80G>T) c.3321G>T (p.Pro1107=) n.1669G>T c.1041G>T (p.Pro347=) c.3453G>T (p.Pro1151=) c.3450G>T (p.Pro1150=) c.3438G>T (p.Pro1146=) c.3426G>T (p.Pro1142=) c.3393G>T (p.Pro1131=) c.3336G>T (p.Pro1112=) c.3435G>T (p.Pro1145=) c.3411G>T (p.Pro1137=) c.3246G>T (p.Pro1082=) | dbSNP gnomAD v4 |
| 1 | g.16986141C= | CA1156048913 | ATP13A2 | c.*80G= (n.*80G=) c.3321G= (p.Pro1107=) n.1669G= c.1041G= (p.Pro347=) c.3453G= (p.Pro1151=) c.3450G= (p.Pro1150=) c.3438G= (p.Pro1146=) c.3426G= (p.Pro1142=) c.3393G= (p.Pro1131=) c.3336G= (p.Pro1112=) c.3435G= (p.Pro1145=) c.3411G= (p.Pro1137=) c.3246G= (p.Pro1082=) | |
| 1 | g.16986141C>T | CA521449594 | ATP13A2 | c.*80G>A (n.*80G>A) c.3321G>A (p.Pro1107=) n.1669G>A c.1041G>A (p.Pro347=) c.3453G>A (p.Pro1151=) c.3450G>A (p.Pro1150=) c.3438G>A (p.Pro1146=) c.3426G>A (p.Pro1142=) c.3393G>A (p.Pro1131=) c.3336G>A (p.Pro1112=) c.3435G>A (p.Pro1145=) c.3411G>A (p.Pro1137=) c.3246G>A (p.Pro1082=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.16986142G>A | CA636435 | ATP13A2 | c.*79C>T (n.*79C>T) c.3320C>T (p.Pro1107Leu) n.1668C>T c.1040C>T (p.Pro347Leu) c.3452C>T (p.Pro1151Leu) c.3449C>T (p.Pro1150Leu) c.3437C>T (p.Pro1146Leu) c.3425C>T (p.Pro1142Leu) c.3392C>T (p.Pro1131Leu) c.3335C>T (p.Pro1112Leu) c.3434C>T (p.Pro1145Leu) c.3410C>T (p.Pro1137Leu) c.3245C>T (p.Pro1082Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16986142G>C | CA338231337 | ATP13A2 | c.*79C>G (n.*79C>G) c.3320C>G (p.Pro1107Arg) n.1668C>G c.1040C>G (p.Pro347Arg) c.3452C>G (p.Pro1151Arg) c.3449C>G (p.Pro1150Arg) c.3437C>G (p.Pro1146Arg) c.3425C>G (p.Pro1142Arg) c.3392C>G (p.Pro1131Arg) c.3335C>G (p.Pro1112Arg) c.3434C>G (p.Pro1145Arg) c.3410C>G (p.Pro1137Arg) c.3245C>G (p.Pro1082Arg) | |
| 1 | g.16986142G= | CA1156048919 | ATP13A2 | c.*79C= (n.*79C=) c.3320C= (p.Pro1107=) n.1668C= c.1040C= (p.Pro347=) c.3452C= (p.Pro1151=) c.3449C= (p.Pro1150=) c.3437C= (p.Pro1146=) c.3425C= (p.Pro1142=) c.3392C= (p.Pro1131=) c.3335C= (p.Pro1112=) c.3434C= (p.Pro1145=) c.3410C= (p.Pro1137=) c.3245C= (p.Pro1082=) | |
| 1 | g.16986142G>T | CA636434 | ATP13A2 | c.*79C>A (n.*79C>A) c.3320C>A (p.Pro1107Gln) n.1668C>A c.1040C>A (p.Pro347Gln) c.3452C>A (p.Pro1151Gln) c.3449C>A (p.Pro1150Gln) c.3437C>A (p.Pro1146Gln) c.3425C>A (p.Pro1142Gln) c.3392C>A (p.Pro1131Gln) c.3335C>A (p.Pro1112Gln) c.3434C>A (p.Pro1145Gln) c.3410C>A (p.Pro1137Gln) c.3245C>A (p.Pro1082Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.16986143G>A | CA338231341 | ATP13A2 | c.*78C>T (n.*78C>T) c.3319C>T (p.Pro1107Ser) n.1667C>T c.1039C>T (p.Pro347Ser) c.3451C>T (p.Pro1151Ser) c.3448C>T (p.Pro1150Ser) c.3436C>T (p.Pro1146Ser) c.3424C>T (p.Pro1142Ser) c.3391C>T (p.Pro1131Ser) c.3334C>T (p.Pro1112Ser) c.3433C>T (p.Pro1145Ser) c.3409C>T (p.Pro1137Ser) c.3244C>T (p.Pro1082Ser) | gnomAD v4 |
| 1 | g.16986143G>C | CA338231351 | ATP13A2 | c.*78C>G (n.*78C>G) c.3319C>G (p.Pro1107Ala) n.1667C>G c.1039C>G (p.Pro347Ala) c.3451C>G (p.Pro1151Ala) c.3448C>G (p.Pro1150Ala) c.3436C>G (p.Pro1146Ala) c.3424C>G (p.Pro1142Ala) c.3391C>G (p.Pro1131Ala) c.3334C>G (p.Pro1112Ala) c.3433C>G (p.Pro1145Ala) c.3409C>G (p.Pro1137Ala) c.3244C>G (p.Pro1082Ala) | |
| 1 | g.16986143G>T | CA338231353 | ATP13A2 | c.*78C>A (n.*78C>A) c.3319C>A (p.Pro1107Thr) n.1667C>A c.1039C>A (p.Pro347Thr) c.3451C>A (p.Pro1151Thr) c.3448C>A (p.Pro1150Thr) c.3436C>A (p.Pro1146Thr) c.3424C>A (p.Pro1142Thr) c.3391C>A (p.Pro1131Thr) c.3334C>A (p.Pro1112Thr) c.3433C>A (p.Pro1145Thr) c.3409C>A (p.Pro1137Thr) c.3244C>A (p.Pro1082Thr) | gnomAD v4 |
| 1 | g.16986145G>A | CA636436 | ATP13A2 | c.*76C>T (n.*76C>T) c.3317C>T (p.Pro1106Leu) n.1665C>T c.1037C>T (p.Pro346Leu) c.3449C>T (p.Pro1150Leu) c.3446C>T (p.Pro1149Leu) c.3434C>T (p.Pro1145Leu) c.3422C>T (p.Pro1141Leu) c.3389C>T (p.Pro1130Leu) c.3332C>T (p.Pro1111Leu) c.3431C>T (p.Pro1144Leu) c.3407C>T (p.Pro1136Leu) c.3242C>T (p.Pro1081Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16986145G>C | CA338231354 | ATP13A2 | c.*76C>G (n.*76C>G) c.3317C>G (p.Pro1106Arg) n.1665C>G c.1037C>G (p.Pro346Arg) c.3449C>G (p.Pro1150Arg) c.3446C>G (p.Pro1149Arg) c.3434C>G (p.Pro1145Arg) c.3422C>G (p.Pro1141Arg) c.3389C>G (p.Pro1130Arg) c.3332C>G (p.Pro1111Arg) c.3431C>G (p.Pro1144Arg) c.3407C>G (p.Pro1136Arg) c.3242C>G (p.Pro1081Arg) | |
| 1 | g.16986145G= | CA1156048921 | ATP13A2 | c.*76C= (n.*76C=) c.3317C= (p.Pro1106=) n.1665C= c.1037C= (p.Pro346=) c.3449C= (p.Pro1150=) c.3446C= (p.Pro1149=) c.3434C= (p.Pro1145=) c.3422C= (p.Pro1141=) c.3389C= (p.Pro1130=) c.3332C= (p.Pro1111=) c.3431C= (p.Pro1144=) c.3407C= (p.Pro1136=) c.3242C= (p.Pro1081=) | |
| 1 | g.16986145G>T | CA338231355 | ATP13A2 | c.*76C>A (n.*76C>A) c.3317C>A (p.Pro1106Gln) n.1665C>A c.1037C>A (p.Pro346Gln) c.3449C>A (p.Pro1150Gln) c.3446C>A (p.Pro1149Gln) c.3434C>A (p.Pro1145Gln) c.3422C>A (p.Pro1141Gln) c.3389C>A (p.Pro1130Gln) c.3332C>A (p.Pro1111Gln) c.3431C>A (p.Pro1144Gln) c.3407C>A (p.Pro1136Gln) c.3242C>A (p.Pro1081Gln) | |
| 1 | g.16986146G>A | CA338231356 | ATP13A2 | c.*75C>T (n.*75C>T) c.3316C>T (p.Pro1106Ser) n.1664C>T c.1036C>T (p.Pro346Ser) c.3448C>T (p.Pro1150Ser) c.3445C>T (p.Pro1149Ser) c.3433C>T (p.Pro1145Ser) c.3421C>T (p.Pro1141Ser) c.3388C>T (p.Pro1130Ser) c.3331C>T (p.Pro1111Ser) c.3430C>T (p.Pro1144Ser) c.3406C>T (p.Pro1136Ser) c.3241C>T (p.Pro1081Ser) | |
| 1 | g.16986146G>C | CA338231357 | ATP13A2 | c.*75C>G (n.*75C>G) c.3316C>G (p.Pro1106Ala) n.1664C>G c.1036C>G (p.Pro346Ala) c.3448C>G (p.Pro1150Ala) c.3445C>G (p.Pro1149Ala) c.3433C>G (p.Pro1145Ala) c.3421C>G (p.Pro1141Ala) c.3388C>G (p.Pro1130Ala) c.3331C>G (p.Pro1111Ala) c.3430C>G (p.Pro1144Ala) c.3406C>G (p.Pro1136Ala) c.3241C>G (p.Pro1081Ala) | |
| 1 | g.16986146G>T | CA338231358 | ATP13A2 | c.*75C>A (n.*75C>A) c.3316C>A (p.Pro1106Thr) n.1664C>A c.1036C>A (p.Pro346Thr) c.3448C>A (p.Pro1150Thr) c.3445C>A (p.Pro1149Thr) c.3433C>A (p.Pro1145Thr) c.3421C>A (p.Pro1141Thr) c.3388C>A (p.Pro1130Thr) c.3331C>A (p.Pro1111Thr) c.3430C>A (p.Pro1144Thr) c.3406C>A (p.Pro1136Thr) c.3241C>A (p.Pro1081Thr) | |
| 1 | g.16986147T>C | CA2740113482 | ATP13A2 | c.*74A>G (n.*74A>G) c.3315A>G (p.Thr1105=) n.1663A>G c.1035A>G (p.Thr345=) c.3447A>G (p.Thr1149=) c.3444A>G (p.Thr1148=) c.3432A>G (p.Thr1144=) c.3420A>G (p.Thr1140=) c.3387A>G (p.Thr1129=) c.3330A>G (p.Thr1110=) c.3429A>G (p.Thr1143=) c.3405A>G (p.Thr1135=) c.3240A>G (p.Thr1080=) | |
| 1 | g.16986147T>G | CA2742638034 | ATP13A2 | c.*74A>C (n.*74A>C) c.3315A>C (p.Thr1105=) n.1663A>C c.1035A>C (p.Thr345=) c.3447A>C (p.Thr1149=) c.3444A>C (p.Thr1148=) c.3432A>C (p.Thr1144=) c.3420A>C (p.Thr1140=) c.3387A>C (p.Thr1129=) c.3330A>C (p.Thr1110=) c.3429A>C (p.Thr1143=) c.3405A>C (p.Thr1135=) c.3240A>C (p.Thr1080=) | |
| 1 | g.16986148G>A | CA338231359 | ATP13A2 | c.*73C>T (n.*73C>T) c.3314C>T (p.Thr1105Ile) n.1662C>T c.1034C>T (p.Thr345Ile) c.3446C>T (p.Thr1149Ile) c.3443C>T (p.Thr1148Ile) c.3431C>T (p.Thr1144Ile) c.3419C>T (p.Thr1140Ile) c.3386C>T (p.Thr1129Ile) c.3329C>T (p.Thr1110Ile) c.3428C>T (p.Thr1143Ile) c.3404C>T (p.Thr1135Ile) c.3239C>T (p.Thr1080Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.16986148G>C | CA338231360 | ATP13A2 | c.*73C>G (n.*73C>G) c.3314C>G (p.Thr1105Arg) n.1662C>G c.1034C>G (p.Thr345Arg) c.3446C>G (p.Thr1149Arg) c.3443C>G (p.Thr1148Arg) c.3431C>G (p.Thr1144Arg) c.3419C>G (p.Thr1140Arg) c.3386C>G (p.Thr1129Arg) c.3329C>G (p.Thr1110Arg) c.3428C>G (p.Thr1143Arg) c.3404C>G (p.Thr1135Arg) c.3239C>G (p.Thr1080Arg) | |
| 1 | g.16986148G= | CA1156048924 | ATP13A2 | c.*73C= (n.*73C=) c.3314C= (p.Thr1105=) n.1662C= c.1034C= (p.Thr345=) c.3446C= (p.Thr1149=) c.3443C= (p.Thr1148=) c.3431C= (p.Thr1144=) c.3419C= (p.Thr1140=) c.3386C= (p.Thr1129=) c.3329C= (p.Thr1110=) c.3428C= (p.Thr1143=) c.3404C= (p.Thr1135=) c.3239C= (p.Thr1080=) | |
| 1 | g.16986148G>T | CA338231361 | ATP13A2 | c.*73C>A (n.*73C>A) c.3314C>A (p.Thr1105Lys) n.1662C>A c.1034C>A (p.Thr345Lys) c.3446C>A (p.Thr1149Lys) c.3443C>A (p.Thr1148Lys) c.3431C>A (p.Thr1144Lys) c.3419C>A (p.Thr1140Lys) c.3386C>A (p.Thr1129Lys) c.3329C>A (p.Thr1110Lys) c.3428C>A (p.Thr1143Lys) c.3404C>A (p.Thr1135Lys) c.3239C>A (p.Thr1080Lys) | |
| 1 | g.16986149T>A | CA338231370 | ATP13A2 | c.*72A>T (n.*72A>T) c.3313A>T (p.Thr1105Ser) n.1661A>T c.1033A>T (p.Thr345Ser) c.3445A>T (p.Thr1149Ser) c.3442A>T (p.Thr1148Ser) c.3430A>T (p.Thr1144Ser) c.3418A>T (p.Thr1140Ser) c.3385A>T (p.Thr1129Ser) c.3328A>T (p.Thr1110Ser) c.3427A>T (p.Thr1143Ser) c.3403A>T (p.Thr1135Ser) c.3238A>T (p.Thr1080Ser) | |
| 1 | g.16986149T>C | CA338231368 | ATP13A2 | c.*72A>G (n.*72A>G) c.3313A>G (p.Thr1105Ala) n.1661A>G c.1033A>G (p.Thr345Ala) c.3445A>G (p.Thr1149Ala) c.3442A>G (p.Thr1148Ala) c.3430A>G (p.Thr1144Ala) c.3418A>G (p.Thr1140Ala) c.3385A>G (p.Thr1129Ala) c.3328A>G (p.Thr1110Ala) c.3427A>G (p.Thr1143Ala) c.3403A>G (p.Thr1135Ala) c.3238A>G (p.Thr1080Ala) | |
| 1 | g.16986149T>G | CA338231363 | ATP13A2 | c.*72A>C (n.*72A>C) c.3313A>C (p.Thr1105Pro) n.1661A>C c.1033A>C (p.Thr345Pro) c.3445A>C (p.Thr1149Pro) c.3442A>C (p.Thr1148Pro) c.3430A>C (p.Thr1144Pro) c.3418A>C (p.Thr1140Pro) c.3385A>C (p.Thr1129Pro) c.3328A>C (p.Thr1110Pro) c.3427A>C (p.Thr1143Pro) c.3403A>C (p.Thr1135Pro) c.3238A>C (p.Thr1080Pro) | |
| 1 | g.16986150T>C | CA1156048932 | ATP13A2 | c.*71A>G (n.*71A>G) c.3312A>G (p.Ala1104=) n.1660A>G c.1032A>G (p.Ala344=) c.3444A>G (p.Ala1148=) c.3441A>G (p.Ala1147=) c.3429A>G (p.Ala1143=) c.3417A>G (p.Ala1139=) c.3384A>G (p.Ala1128=) c.3327A>G (p.Ala1109=) c.3426A>G (p.Ala1142=) c.3402A>G (p.Ala1134=) c.3237A>G (p.Ala1079=) | dbSNP gnomAD v4 |
| 1 | g.16986150T= | CA1156048929 | ATP13A2 | c.*71A= (n.*71A=) c.3312A= (p.Ala1104=) n.1660A= c.1032A= (p.Ala344=) c.3444A= (p.Ala1148=) c.3441A= (p.Ala1147=) c.3429A= (p.Ala1143=) c.3417A= (p.Ala1139=) c.3384A= (p.Ala1128=) c.3327A= (p.Ala1109=) c.3426A= (p.Ala1142=) c.3402A= (p.Ala1134=) c.3237A= (p.Ala1079=) | |
| 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 |