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.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 |
| 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) |