| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.16986073dup | CA636416 | ATP13A2 | c.*151dup (n.*151dup) c.3392dup (p.Ser1132LysfsTer3) n.1740dup c.1112dup (p.Ser372LysfsTer3) c.3524dup (p.Ser1176LysfsTer3) c.3521dup (p.Ser1175LysfsTer3) c.3509dup (p.Ser1171LysfsTer3) c.3497dup (p.Ser1167LysfsTer3) c.3464dup (p.Ser1156LysfsTer3) c.3407dup (p.Ser1137LysfsTer3) c.3506dup (p.Ser1170LysfsTer3) c.3482dup (p.Ser1162LysfsTer3) c.3317dup (p.Ser1107LysfsTer3) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16986072C>A | CA338230645 | ATP13A2 | c.*149G>T (n.*149G>T) c.3390G>T (p.Trp1130Cys) n.1738G>T c.1110G>T (p.Trp370Cys) c.3522G>T (p.Trp1174Cys) c.3519G>T (p.Trp1173Cys) c.3507G>T (p.Trp1169Cys) c.3495G>T (p.Trp1165Cys) c.3462G>T (p.Trp1154Cys) c.3405G>T (p.Trp1135Cys) c.3504G>T (p.Trp1168Cys) c.3480G>T (p.Trp1160Cys) c.3315G>T (p.Trp1105Cys) | gnomAD v4 |
| 1 | g.16986072C= | CA1156048785 | ATP13A2 | c.*149G= (n.*149G=) c.3390G= (p.Trp1130=) n.1738G= c.1110G= (p.Trp370=) c.3522G= (p.Trp1174=) c.3519G= (p.Trp1173=) c.3507G= (p.Trp1169=) c.3495G= (p.Trp1165=) c.3462G= (p.Trp1154=) c.3405G= (p.Trp1135=) c.3504G= (p.Trp1168=) c.3480G= (p.Trp1160=) c.3315G= (p.Trp1105=) | |
| 1 | g.16986072C>G | CA338230647 | ATP13A2 | c.*149G>C (n.*149G>C) c.3390G>C (p.Trp1130Cys) n.1738G>C c.1110G>C (p.Trp370Cys) c.3522G>C (p.Trp1174Cys) c.3519G>C (p.Trp1173Cys) c.3507G>C (p.Trp1169Cys) c.3495G>C (p.Trp1165Cys) c.3462G>C (p.Trp1154Cys) c.3405G>C (p.Trp1135Cys) c.3504G>C (p.Trp1168Cys) c.3480G>C (p.Trp1160Cys) c.3315G>C (p.Trp1105Cys) | |
| 1 | g.16986072C>T | CA338230648 | ATP13A2 | c.*149G>A (n.*149G>A) c.3390G>A (p.Trp1130Ter) n.1738G>A c.1110G>A (p.Trp370Ter) c.3522G>A (p.Trp1174Ter) c.3519G>A (p.Trp1173Ter) c.3507G>A (p.Trp1169Ter) c.3495G>A (p.Trp1165Ter) c.3462G>A (p.Trp1154Ter) c.3405G>A (p.Trp1135Ter) c.3504G>A (p.Trp1168Ter) c.3480G>A (p.Trp1160Ter) c.3315G>A (p.Trp1105Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.16986073C>A | CA338230649 | ATP13A2 | c.*148G>T (n.*148G>T) c.3389G>T (p.Trp1130Leu) n.1737G>T c.1109G>T (p.Trp370Leu) c.3521G>T (p.Trp1174Leu) c.3518G>T (p.Trp1173Leu) c.3506G>T (p.Trp1169Leu) c.3494G>T (p.Trp1165Leu) c.3461G>T (p.Trp1154Leu) c.3404G>T (p.Trp1135Leu) c.3503G>T (p.Trp1168Leu) c.3479G>T (p.Trp1160Leu) c.3314G>T (p.Trp1105Leu) | |
| 1 | g.16986073C= | CA1156048787 | ATP13A2 | c.*148G= (n.*148G=) c.3389G= (p.Trp1130=) n.1737G= c.1109G= (p.Trp370=) c.3521G= (p.Trp1174=) c.3518G= (p.Trp1173=) c.3506G= (p.Trp1169=) c.3494G= (p.Trp1165=) c.3461G= (p.Trp1154=) c.3404G= (p.Trp1135=) c.3503G= (p.Trp1168=) c.3479G= (p.Trp1160=) c.3314G= (p.Trp1105=) | |
| 1 | g.16986073C>G | CA338230651 | ATP13A2 | c.*148G>C (n.*148G>C) c.3389G>C (p.Trp1130Ser) n.1737G>C c.1109G>C (p.Trp370Ser) c.3521G>C (p.Trp1174Ser) c.3518G>C (p.Trp1173Ser) c.3506G>C (p.Trp1169Ser) c.3494G>C (p.Trp1165Ser) c.3461G>C (p.Trp1154Ser) c.3404G>C (p.Trp1135Ser) c.3503G>C (p.Trp1168Ser) c.3479G>C (p.Trp1160Ser) c.3314G>C (p.Trp1105Ser) | |
| 1 | g.16986073C>T | CA338230653 | ATP13A2 | c.*148G>A (n.*148G>A) c.3389G>A (p.Trp1130Ter) n.1737G>A c.1109G>A (p.Trp370Ter) c.3521G>A (p.Trp1174Ter) c.3518G>A (p.Trp1173Ter) c.3506G>A (p.Trp1169Ter) c.3494G>A (p.Trp1165Ter) c.3461G>A (p.Trp1154Ter) c.3404G>A (p.Trp1135Ter) c.3503G>A (p.Trp1168Ter) c.3479G>A (p.Trp1160Ter) c.3314G>A (p.Trp1105Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16986074A>C | CA338230655 | ATP13A2 | c.*147T>G (n.*147T>G) c.3388T>G (p.Trp1130Gly) n.1736T>G c.1108T>G (p.Trp370Gly) c.3520T>G (p.Trp1174Gly) c.3517T>G (p.Trp1173Gly) c.3505T>G (p.Trp1169Gly) c.3493T>G (p.Trp1165Gly) c.3460T>G (p.Trp1154Gly) c.3403T>G (p.Trp1135Gly) c.3502T>G (p.Trp1168Gly) c.3478T>G (p.Trp1160Gly) c.3313T>G (p.Trp1105Gly) | dbSNP |
| 1 | g.16986074A>G | CA338230657 | ATP13A2 | c.*147T>C (n.*147T>C) c.3388T>C (p.Trp1130Arg) n.1736T>C c.1108T>C (p.Trp370Arg) c.3520T>C (p.Trp1174Arg) c.3517T>C (p.Trp1173Arg) c.3505T>C (p.Trp1169Arg) c.3493T>C (p.Trp1165Arg) c.3460T>C (p.Trp1154Arg) c.3403T>C (p.Trp1135Arg) c.3502T>C (p.Trp1168Arg) c.3478T>C (p.Trp1160Arg) c.3313T>C (p.Trp1105Arg) | |
| 1 | g.16986074A>T | CA338230658 | ATP13A2 | c.*147T>A (n.*147T>A) c.3388T>A (p.Trp1130Arg) n.1736T>A c.1108T>A (p.Trp370Arg) c.3520T>A (p.Trp1174Arg) c.3517T>A (p.Trp1173Arg) c.3505T>A (p.Trp1169Arg) c.3493T>A (p.Trp1165Arg) c.3460T>A (p.Trp1154Arg) c.3403T>A (p.Trp1135Arg) c.3502T>A (p.Trp1168Arg) c.3478T>A (p.Trp1160Arg) c.3313T>A (p.Trp1105Arg) | dbSNP |
| 1 | g.16986075G>A | CA636417 | ATP13A2 | c.*146C>T (n.*146C>T) c.3387C>T (p.Pro1129=) n.1735C>T c.1107C>T (p.Pro369=) c.3519C>T (p.Pro1173=) c.3516C>T (p.Pro1172=) c.3504C>T (p.Pro1168=) c.3492C>T (p.Pro1164=) c.3459C>T (p.Pro1153=) c.3402C>T (p.Pro1134=) c.3501C>T (p.Pro1167=) c.3477C>T (p.Pro1159=) c.3312C>T (p.Pro1104=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16986075G= | CA1145031133 | ATP13A2 | c.*146C= (n.*146C=) c.3387C= (p.Pro1129=) n.1735C= c.1107C= (p.Pro369=) c.3519C= (p.Pro1173=) c.3516C= (p.Pro1172=) c.3504C= (p.Pro1168=) c.3492C= (p.Pro1164=) c.3459C= (p.Pro1153=) c.3402C= (p.Pro1134=) c.3501C= (p.Pro1167=) c.3477C= (p.Pro1159=) c.3312C= (p.Pro1104=) | |
| 1 | g.16986078_16986081dup | CA2643667692 | ATP13A2 | c.*143_*146dup (n.*143_*146dup) c.3384_3387dup (p.Trp1130ThrfsTer6) n.1732_1735dup c.1104_1107dup (p.Trp370ThrfsTer6) c.3516_3519dup (p.Trp1174ThrfsTer6) c.3513_3516dup (p.Trp1173ThrfsTer6) c.3501_3504dup (p.Trp1169ThrfsTer6) c.3489_3492dup (p.Trp1165ThrfsTer6) c.3456_3459dup (p.Trp1154ThrfsTer6) c.3399_3402dup (p.Trp1135ThrfsTer6) c.3498_3501dup (p.Trp1168ThrfsTer6) c.3474_3477dup (p.Trp1160ThrfsTer6) c.3309_3312dup (p.Trp1105ThrfsTer6) | gnomAD v4 |
| 1 | g.16986076G>A | CA338230667 | ATP13A2 | c.*145C>T (n.*145C>T) c.3386C>T (p.Pro1129Leu) n.1734C>T c.1106C>T (p.Pro369Leu) c.3518C>T (p.Pro1173Leu) c.3515C>T (p.Pro1172Leu) c.3503C>T (p.Pro1168Leu) c.3491C>T (p.Pro1164Leu) c.3458C>T (p.Pro1153Leu) c.3401C>T (p.Pro1134Leu) c.3500C>T (p.Pro1167Leu) c.3476C>T (p.Pro1159Leu) c.3311C>T (p.Pro1104Leu) | ClinVar dbSNP gnomAD v4 |
| 1 | g.16986076G>C | CA338230666 | ATP13A2 | c.*145C>G (n.*145C>G) c.3386C>G (p.Pro1129Arg) n.1734C>G c.1106C>G (p.Pro369Arg) c.3518C>G (p.Pro1173Arg) c.3515C>G (p.Pro1172Arg) c.3503C>G (p.Pro1168Arg) c.3491C>G (p.Pro1164Arg) c.3458C>G (p.Pro1153Arg) c.3401C>G (p.Pro1134Arg) c.3500C>G (p.Pro1167Arg) c.3476C>G (p.Pro1159Arg) c.3311C>G (p.Pro1104Arg) | |
| 1 | g.16986076G= | CA1156048790 | ATP13A2 | c.*145C= (n.*145C=) c.3386C= (p.Pro1129=) n.1734C= c.1106C= (p.Pro369=) c.3518C= (p.Pro1173=) c.3515C= (p.Pro1172=) c.3503C= (p.Pro1168=) c.3491C= (p.Pro1164=) c.3458C= (p.Pro1153=) c.3401C= (p.Pro1134=) c.3500C= (p.Pro1167=) c.3476C= (p.Pro1159=) c.3311C= (p.Pro1104=) | |
| 1 | g.16986076G>T | CA18624310 | ATP13A2 | c.*145C>A (n.*145C>A) c.3386C>A (p.Pro1129His) n.1734C>A c.1106C>A (p.Pro369His) c.3518C>A (p.Pro1173His) c.3515C>A (p.Pro1172His) c.3503C>A (p.Pro1168His) c.3491C>A (p.Pro1164His) c.3458C>A (p.Pro1153His) c.3401C>A (p.Pro1134His) c.3500C>A (p.Pro1167His) c.3476C>A (p.Pro1159His) c.3311C>A (p.Pro1104His) | dbSNP |
| 1 | g.16986077G>A | CA338230668 | ATP13A2 | c.*144C>T (n.*144C>T) c.3385C>T (p.Pro1129Ser) n.1733C>T c.1105C>T (p.Pro369Ser) c.3517C>T (p.Pro1173Ser) c.3514C>T (p.Pro1172Ser) c.3502C>T (p.Pro1168Ser) c.3490C>T (p.Pro1164Ser) c.3457C>T (p.Pro1153Ser) c.3400C>T (p.Pro1134Ser) c.3499C>T (p.Pro1167Ser) c.3475C>T (p.Pro1159Ser) c.3310C>T (p.Pro1104Ser) | dbSNP gnomAD v2 |
| 1 | g.16986077G>C | CA338230669 | ATP13A2 | c.*144C>G (n.*144C>G) c.3385C>G (p.Pro1129Ala) n.1733C>G c.1105C>G (p.Pro369Ala) c.3517C>G (p.Pro1173Ala) c.3514C>G (p.Pro1172Ala) c.3502C>G (p.Pro1168Ala) c.3490C>G (p.Pro1164Ala) c.3457C>G (p.Pro1153Ala) c.3400C>G (p.Pro1134Ala) c.3499C>G (p.Pro1167Ala) c.3475C>G (p.Pro1159Ala) c.3310C>G (p.Pro1104Ala) | |
| 1 | g.16986077G= | CA1156048792 | ATP13A2 | c.*144C= (n.*144C=) c.3385C= (p.Pro1129=) n.1733C= c.1105C= (p.Pro369=) c.3517C= (p.Pro1173=) c.3514C= (p.Pro1172=) c.3502C= (p.Pro1168=) c.3490C= (p.Pro1164=) c.3457C= (p.Pro1153=) c.3400C= (p.Pro1134=) c.3499C= (p.Pro1167=) c.3475C= (p.Pro1159=) c.3310C= (p.Pro1104=) | |
| 1 | g.16986077G>T | CA338230670 | ATP13A2 | c.*144C>A (n.*144C>A) c.3385C>A (p.Pro1129Thr) n.1733C>A c.1105C>A (p.Pro369Thr) c.3517C>A (p.Pro1173Thr) c.3514C>A (p.Pro1172Thr) c.3502C>A (p.Pro1168Thr) c.3490C>A (p.Pro1164Thr) c.3457C>A (p.Pro1153Thr) c.3400C>A (p.Pro1134Thr) c.3499C>A (p.Pro1167Thr) c.3475C>A (p.Pro1159Thr) c.3310C>A (p.Pro1104Thr) | dbSNP gnomAD v2 |
| 1 | g.16986078T>A | CA2643667700 | ATP13A2 | c.*143A>T (n.*143A>T) c.3384A>T (p.Pro1128=) n.1732A>T c.1104A>T (p.Pro368=) c.3516A>T (p.Pro1172=) c.3513A>T (p.Pro1171=) c.3501A>T (p.Pro1167=) c.3489A>T (p.Pro1163=) c.3456A>T (p.Pro1152=) c.3399A>T (p.Pro1133=) c.3498A>T (p.Pro1166=) c.3474A>T (p.Pro1158=) c.3309A>T (p.Pro1103=) | gnomAD v4 |
| 1 | g.16986078T>G | CA999084916 | ATP13A2 | c.*143A>C (n.*143A>C) c.3384A>C (p.Pro1128=) n.1732A>C c.1104A>C (p.Pro368=) c.3516A>C (p.Pro1172=) c.3513A>C (p.Pro1171=) c.3501A>C (p.Pro1167=) c.3489A>C (p.Pro1163=) c.3456A>C (p.Pro1152=) c.3399A>C (p.Pro1133=) c.3498A>C (p.Pro1166=) c.3474A>C (p.Pro1158=) c.3309A>C (p.Pro1103=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.16986079G>A | CA338230671 | ATP13A2 | c.*142C>T (n.*142C>T) c.3383C>T (p.Pro1128Leu) n.1731C>T c.1103C>T (p.Pro368Leu) c.3515C>T (p.Pro1172Leu) c.3512C>T (p.Pro1171Leu) c.3500C>T (p.Pro1167Leu) c.3488C>T (p.Pro1163Leu) c.3455C>T (p.Pro1152Leu) c.3398C>T (p.Pro1133Leu) c.3497C>T (p.Pro1166Leu) c.3473C>T (p.Pro1158Leu) c.3308C>T (p.Pro1103Leu) | gnomAD v4 |
| 1 | g.16986079G>C | CA338230673 | ATP13A2 | c.*142C>G (n.*142C>G) c.3383C>G (p.Pro1128Arg) n.1731C>G c.1103C>G (p.Pro368Arg) c.3515C>G (p.Pro1172Arg) c.3512C>G (p.Pro1171Arg) c.3500C>G (p.Pro1167Arg) c.3488C>G (p.Pro1163Arg) c.3455C>G (p.Pro1152Arg) c.3398C>G (p.Pro1133Arg) c.3497C>G (p.Pro1166Arg) c.3473C>G (p.Pro1158Arg) c.3308C>G (p.Pro1103Arg) | gnomAD v4 |
| 1 | g.16986079G= | CA1156048796 | ATP13A2 | c.*142C= (n.*142C=) c.3383C= (p.Pro1128=) n.1731C= c.1103C= (p.Pro368=) c.3515C= (p.Pro1172=) c.3512C= (p.Pro1171=) c.3500C= (p.Pro1167=) c.3488C= (p.Pro1163=) c.3455C= (p.Pro1152=) c.3398C= (p.Pro1133=) c.3497C= (p.Pro1166=) c.3473C= (p.Pro1158=) c.3308C= (p.Pro1103=) | |
| 1 | g.16986079G>T | CA636418 | ATP13A2 | c.*142C>A (n.*142C>A) c.3383C>A (p.Pro1128Gln) n.1731C>A c.1103C>A (p.Pro368Gln) c.3515C>A (p.Pro1172Gln) c.3512C>A (p.Pro1171Gln) c.3500C>A (p.Pro1167Gln) c.3488C>A (p.Pro1163Gln) c.3455C>A (p.Pro1152Gln) c.3398C>A (p.Pro1133Gln) c.3497C>A (p.Pro1166Gln) c.3473C>A (p.Pro1158Gln) c.3308C>A (p.Pro1103Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16986083del | CA2643667704 | ATP13A2 | c.*142del (n.*142del) c.3383del (p.Pro1128HisfsTer?) n.1731del c.1103del (p.Pro368HisfsTer?) c.3515del (p.Pro1172HisfsTer?) c.3512del (p.Pro1171HisfsTer?) c.3500del (p.Pro1167HisfsTer?) c.3488del (p.Pro1163HisfsTer?) c.3455del (p.Pro1152HisfsTer?) c.3398del (p.Pro1133HisfsTer?) c.3497del (p.Pro1166HisfsTer?) c.3473del (p.Pro1158HisfsTer?) c.3308del (p.Pro1103HisfsTer?) | gnomAD v4 |
| 1 | g.16986080G>A | CA338230674 | ATP13A2 | c.*141C>T (n.*141C>T) c.3382C>T (p.Pro1128Ser) n.1730C>T c.1102C>T (p.Pro368Ser) c.3514C>T (p.Pro1172Ser) c.3511C>T (p.Pro1171Ser) c.3499C>T (p.Pro1167Ser) c.3487C>T (p.Pro1163Ser) c.3454C>T (p.Pro1152Ser) c.3397C>T (p.Pro1133Ser) c.3496C>T (p.Pro1166Ser) c.3472C>T (p.Pro1158Ser) c.3307C>T (p.Pro1103Ser) | |
| 1 | g.16986080G>C | CA338230676 | ATP13A2 | c.*141C>G (n.*141C>G) c.3382C>G (p.Pro1128Ala) n.1730C>G c.1102C>G (p.Pro368Ala) c.3514C>G (p.Pro1172Ala) c.3511C>G (p.Pro1171Ala) c.3499C>G (p.Pro1167Ala) c.3487C>G (p.Pro1163Ala) c.3454C>G (p.Pro1152Ala) c.3397C>G (p.Pro1133Ala) c.3496C>G (p.Pro1166Ala) c.3472C>G (p.Pro1158Ala) c.3307C>G (p.Pro1103Ala) | |
| 1 | g.16986080G>T | CA338230678 | ATP13A2 | c.*141C>A (n.*141C>A) c.3382C>A (p.Pro1128Thr) n.1730C>A c.1102C>A (p.Pro368Thr) c.3514C>A (p.Pro1172Thr) c.3511C>A (p.Pro1171Thr) c.3499C>A (p.Pro1167Thr) c.3487C>A (p.Pro1163Thr) c.3454C>A (p.Pro1152Thr) c.3397C>A (p.Pro1133Thr) c.3496C>A (p.Pro1166Thr) c.3472C>A (p.Pro1158Thr) c.3307C>A (p.Pro1103Thr) | |
| 1 | g.16986081G>C | CA636419 | ATP13A2 | c.*140C>G (n.*140C>G) c.3381C>G (p.Pro1127=) n.1729C>G c.1101C>G (p.Pro367=) c.3513C>G (p.Pro1171=) c.3510C>G (p.Pro1170=) c.3498C>G (p.Pro1166=) c.3486C>G (p.Pro1162=) c.3453C>G (p.Pro1151=) c.3396C>G (p.Pro1132=) c.3495C>G (p.Pro1165=) c.3471C>G (p.Pro1157=) c.3306C>G (p.Pro1102=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16986081G= | CA1146542995 | ATP13A2 | c.*140C= (n.*140C=) c.3381C= (p.Pro1127=) n.1729C= c.1101C= (p.Pro367=) c.3513C= (p.Pro1171=) c.3510C= (p.Pro1170=) c.3498C= (p.Pro1166=) c.3486C= (p.Pro1162=) c.3453C= (p.Pro1151=) c.3396C= (p.Pro1132=) c.3495C= (p.Pro1165=) c.3471C= (p.Pro1157=) c.3306C= (p.Pro1102=) | |
| 1 | g.16986082G>A | CA18624343 | ATP13A2 | c.*139C>T (n.*139C>T) c.3380C>T (p.Pro1127Leu) n.1728C>T c.1100C>T (p.Pro367Leu) c.3512C>T (p.Pro1171Leu) c.3509C>T (p.Pro1170Leu) c.3497C>T (p.Pro1166Leu) c.3485C>T (p.Pro1162Leu) c.3452C>T (p.Pro1151Leu) c.3395C>T (p.Pro1132Leu) c.3494C>T (p.Pro1165Leu) c.3470C>T (p.Pro1157Leu) c.3305C>T (p.Pro1102Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16986082G>C | CA338230681 | ATP13A2 | c.*139C>G (n.*139C>G) c.3380C>G (p.Pro1127Arg) n.1728C>G c.1100C>G (p.Pro367Arg) c.3512C>G (p.Pro1171Arg) c.3509C>G (p.Pro1170Arg) c.3497C>G (p.Pro1166Arg) c.3485C>G (p.Pro1162Arg) c.3452C>G (p.Pro1151Arg) c.3395C>G (p.Pro1132Arg) c.3494C>G (p.Pro1165Arg) c.3470C>G (p.Pro1157Arg) c.3305C>G (p.Pro1102Arg) | |
| 1 | g.16986082G= | CA1156048808 | ATP13A2 | c.*139C= (n.*139C=) c.3380C= (p.Pro1127=) n.1728C= c.1100C= (p.Pro367=) c.3512C= (p.Pro1171=) c.3509C= (p.Pro1170=) c.3497C= (p.Pro1166=) c.3485C= (p.Pro1162=) c.3452C= (p.Pro1151=) c.3395C= (p.Pro1132=) c.3494C= (p.Pro1165=) c.3470C= (p.Pro1157=) c.3305C= (p.Pro1102=) | |
| 1 | g.16986082G>T | CA338230682 | ATP13A2 | c.*139C>A (n.*139C>A) c.3380C>A (p.Pro1127His) n.1728C>A c.1100C>A (p.Pro367His) c.3512C>A (p.Pro1171His) c.3509C>A (p.Pro1170His) c.3497C>A (p.Pro1166His) c.3485C>A (p.Pro1162His) c.3452C>A (p.Pro1151His) c.3395C>A (p.Pro1132His) c.3494C>A (p.Pro1165His) c.3470C>A (p.Pro1157His) c.3305C>A (p.Pro1102His) | |
| 1 | g.16986083G>A | CA338230685 | ATP13A2 | c.*138C>T (n.*138C>T) c.3379C>T (p.Pro1127Ser) n.1727C>T c.1099C>T (p.Pro367Ser) c.3511C>T (p.Pro1171Ser) c.3508C>T (p.Pro1170Ser) c.3496C>T (p.Pro1166Ser) c.3484C>T (p.Pro1162Ser) c.3451C>T (p.Pro1151Ser) c.3394C>T (p.Pro1132Ser) c.3493C>T (p.Pro1165Ser) c.3469C>T (p.Pro1157Ser) c.3304C>T (p.Pro1102Ser) | ClinVar |
| 1 | g.16986083G>C | CA338230683 | ATP13A2 | c.*138C>G (n.*138C>G) c.3379C>G (p.Pro1127Ala) n.1727C>G c.1099C>G (p.Pro367Ala) c.3511C>G (p.Pro1171Ala) c.3508C>G (p.Pro1170Ala) c.3496C>G (p.Pro1166Ala) c.3484C>G (p.Pro1162Ala) c.3451C>G (p.Pro1151Ala) c.3394C>G (p.Pro1132Ala) c.3493C>G (p.Pro1165Ala) c.3469C>G (p.Pro1157Ala) c.3304C>G (p.Pro1102Ala) | |
| 1 | g.16986083G= | CA1156048815 | ATP13A2 | c.*138C= (n.*138C=) c.3379C= (p.Pro1127=) n.1727C= c.1099C= (p.Pro367=) c.3511C= (p.Pro1171=) c.3508C= (p.Pro1170=) c.3496C= (p.Pro1166=) c.3484C= (p.Pro1162=) c.3451C= (p.Pro1151=) c.3394C= (p.Pro1132=) c.3493C= (p.Pro1165=) c.3469C= (p.Pro1157=) c.3304C= (p.Pro1102=) | |
| 1 | g.16986083G>T | CA636420 | ATP13A2 | c.*138C>A (n.*138C>A) c.3379C>A (p.Pro1127Thr) n.1727C>A c.1099C>A (p.Pro367Thr) c.3511C>A (p.Pro1171Thr) c.3508C>A (p.Pro1170Thr) c.3496C>A (p.Pro1166Thr) c.3484C>A (p.Pro1162Thr) c.3451C>A (p.Pro1151Thr) c.3394C>A (p.Pro1132Thr) c.3493C>A (p.Pro1165Thr) c.3469C>A (p.Pro1157Thr) c.3304C>A (p.Pro1102Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.16986084T>A | CA890928313 | ATP13A2 | c.*137A>T (n.*137A>T) c.3378A>T (p.Pro1126=) n.1726A>T c.1098A>T (p.Pro366=) c.3510A>T (p.Pro1170=) c.3507A>T (p.Pro1169=) c.3495A>T (p.Pro1165=) c.3483A>T (p.Pro1161=) c.3450A>T (p.Pro1150=) c.3393A>T (p.Pro1131=) c.3492A>T (p.Pro1164=) c.3468A>T (p.Pro1156=) c.3303A>T (p.Pro1101=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.16986084T>C | CA636421 | ATP13A2 | c.*137A>G (n.*137A>G) c.3378A>G (p.Pro1126=) n.1726A>G c.1098A>G (p.Pro366=) c.3510A>G (p.Pro1170=) c.3507A>G (p.Pro1169=) c.3495A>G (p.Pro1165=) c.3483A>G (p.Pro1161=) c.3450A>G (p.Pro1150=) c.3393A>G (p.Pro1131=) c.3492A>G (p.Pro1164=) c.3468A>G (p.Pro1156=) c.3303A>G (p.Pro1101=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16986084T>G | CA2643667730 | ATP13A2 | c.*137A>C (n.*137A>C) c.3378A>C (p.Pro1126=) n.1726A>C c.1098A>C (p.Pro366=) c.3510A>C (p.Pro1170=) c.3507A>C (p.Pro1169=) c.3495A>C (p.Pro1165=) c.3483A>C (p.Pro1161=) c.3450A>C (p.Pro1150=) c.3393A>C (p.Pro1131=) c.3492A>C (p.Pro1164=) c.3468A>C (p.Pro1156=) c.3303A>C (p.Pro1101=) | dbSNP gnomAD v4 |
| 1 | g.16986084T= | CA1143558522 | ATP13A2 | c.*137A= (n.*137A=) c.3378A= (p.Pro1126=) n.1726A= c.1098A= (p.Pro366=) c.3510A= (p.Pro1170=) c.3507A= (p.Pro1169=) c.3495A= (p.Pro1165=) c.3483A= (p.Pro1161=) c.3450A= (p.Pro1150=) c.3393A= (p.Pro1131=) c.3492A= (p.Pro1164=) c.3468A= (p.Pro1156=) c.3303A= (p.Pro1101=) | |
| 1 | g.16986085G>A | CA338230686 | ATP13A2 | c.*136C>T (n.*136C>T) c.3377C>T (p.Pro1126Leu) n.1725C>T c.1097C>T (p.Pro366Leu) c.3509C>T (p.Pro1170Leu) c.3506C>T (p.Pro1169Leu) c.3494C>T (p.Pro1165Leu) c.3482C>T (p.Pro1161Leu) c.3449C>T (p.Pro1150Leu) c.3392C>T (p.Pro1131Leu) c.3491C>T (p.Pro1164Leu) c.3467C>T (p.Pro1156Leu) c.3302C>T (p.Pro1101Leu) | |
| 1 | g.16986085G>C | CA338230687 | ATP13A2 | c.*136C>G (n.*136C>G) c.3377C>G (p.Pro1126Arg) n.1725C>G c.1097C>G (p.Pro366Arg) c.3509C>G (p.Pro1170Arg) c.3506C>G (p.Pro1169Arg) c.3494C>G (p.Pro1165Arg) c.3482C>G (p.Pro1161Arg) c.3449C>G (p.Pro1150Arg) c.3392C>G (p.Pro1131Arg) c.3491C>G (p.Pro1164Arg) c.3467C>G (p.Pro1156Arg) c.3302C>G (p.Pro1101Arg) | dbSNP |
| 1 | g.16986085G= | CA1156048818 | ATP13A2 | c.*136C= (n.*136C=) c.3377C= (p.Pro1126=) n.1725C= c.1097C= (p.Pro366=) c.3509C= (p.Pro1170=) c.3506C= (p.Pro1169=) c.3494C= (p.Pro1165=) c.3482C= (p.Pro1161=) c.3449C= (p.Pro1150=) c.3392C= (p.Pro1131=) c.3491C= (p.Pro1164=) c.3467C= (p.Pro1156=) c.3302C= (p.Pro1101=) | |
| 1 | g.16986085G>T | CA338230689 | ATP13A2 | c.*136C>A (n.*136C>A) c.3377C>A (p.Pro1126Gln) n.1725C>A c.1097C>A (p.Pro366Gln) c.3509C>A (p.Pro1170Gln) c.3506C>A (p.Pro1169Gln) c.3494C>A (p.Pro1165Gln) c.3482C>A (p.Pro1161Gln) c.3449C>A (p.Pro1150Gln) c.3392C>A (p.Pro1131Gln) c.3491C>A (p.Pro1164Gln) c.3467C>A (p.Pro1156Gln) c.3302C>A (p.Pro1101Gln) | |
| 1 | g.16986086G>A | CA338230690 | ATP13A2 | c.*135C>T (n.*135C>T) c.3376C>T (p.Pro1126Ser) n.1724C>T c.1096C>T (p.Pro366Ser) c.3508C>T (p.Pro1170Ser) c.3505C>T (p.Pro1169Ser) c.3493C>T (p.Pro1165Ser) c.3481C>T (p.Pro1161Ser) c.3448C>T (p.Pro1150Ser) c.3391C>T (p.Pro1131Ser) c.3490C>T (p.Pro1164Ser) c.3466C>T (p.Pro1156Ser) c.3301C>T (p.Pro1101Ser) | |
| 1 | g.16986086G>C | CA338230691 | ATP13A2 | c.*135C>G (n.*135C>G) c.3376C>G (p.Pro1126Ala) n.1724C>G c.1096C>G (p.Pro366Ala) c.3508C>G (p.Pro1170Ala) c.3505C>G (p.Pro1169Ala) c.3493C>G (p.Pro1165Ala) c.3481C>G (p.Pro1161Ala) c.3448C>G (p.Pro1150Ala) c.3391C>G (p.Pro1131Ala) c.3490C>G (p.Pro1164Ala) c.3466C>G (p.Pro1156Ala) c.3301C>G (p.Pro1101Ala) | |
| 1 | g.16986086G>T | CA338230693 | ATP13A2 | c.*135C>A (n.*135C>A) c.3376C>A (p.Pro1126Thr) n.1724C>A c.1096C>A (p.Pro366Thr) c.3508C>A (p.Pro1170Thr) c.3505C>A (p.Pro1169Thr) c.3493C>A (p.Pro1165Thr) c.3481C>A (p.Pro1161Thr) c.3448C>A (p.Pro1150Thr) c.3391C>A (p.Pro1131Thr) c.3490C>A (p.Pro1164Thr) c.3466C>A (p.Pro1156Thr) c.3301C>A (p.Pro1101Thr) | |
| 1 | g.16986087T>A | CA338230694 | ATP13A2 | c.*134A>T (n.*134A>T) c.3375A>T (p.Arg1125Ser) n.1723A>T c.1095A>T (p.Arg365Ser) c.3507A>T (p.Arg1169Ser) c.3504A>T (p.Arg1168Ser) c.3492A>T (p.Arg1164Ser) c.3480A>T (p.Arg1160Ser) c.3447A>T (p.Arg1149Ser) c.3390A>T (p.Arg1130Ser) c.3489A>T (p.Arg1163Ser) c.3465A>T (p.Arg1155Ser) c.3300A>T (p.Arg1100Ser) | gnomAD v4 |
| 1 | g.16986087T>C | CA2643667733 | ATP13A2 | c.*134A>G (n.*134A>G) c.3375A>G (p.Arg1125=) n.1723A>G c.1095A>G (p.Arg365=) c.3507A>G (p.Arg1169=) c.3504A>G (p.Arg1168=) c.3492A>G (p.Arg1164=) c.3480A>G (p.Arg1160=) c.3447A>G (p.Arg1149=) c.3390A>G (p.Arg1130=) c.3489A>G (p.Arg1163=) c.3465A>G (p.Arg1155=) c.3300A>G (p.Arg1100=) | gnomAD v4 |
| 1 | g.16986087T>G | CA338230695 | ATP13A2 | c.*134A>C (n.*134A>C) c.3375A>C (p.Arg1125Ser) n.1723A>C c.1095A>C (p.Arg365Ser) c.3507A>C (p.Arg1169Ser) c.3504A>C (p.Arg1168Ser) c.3492A>C (p.Arg1164Ser) c.3480A>C (p.Arg1160Ser) c.3447A>C (p.Arg1149Ser) c.3390A>C (p.Arg1130Ser) c.3489A>C (p.Arg1163Ser) c.3465A>C (p.Arg1155Ser) c.3300A>C (p.Arg1100Ser) | dbSNP |
| 1 | g.16986088C>A | CA338230697 | ATP13A2 | c.*133G>T (n.*133G>T) c.3374G>T (p.Arg1125Ile) n.1722G>T c.1094G>T (p.Arg365Ile) c.3506G>T (p.Arg1169Ile) c.3503G>T (p.Arg1168Ile) c.3491G>T (p.Arg1164Ile) c.3479G>T (p.Arg1160Ile) c.3446G>T (p.Arg1149Ile) c.3389G>T (p.Arg1130Ile) c.3488G>T (p.Arg1163Ile) c.3464G>T (p.Arg1155Ile) c.3299G>T (p.Arg1100Ile) | gnomAD v4 |
| 1 | g.16986088C>G | CA338230698 | ATP13A2 | c.*133G>C (n.*133G>C) c.3374G>C (p.Arg1125Thr) n.1722G>C c.1094G>C (p.Arg365Thr) c.3506G>C (p.Arg1169Thr) c.3503G>C (p.Arg1168Thr) c.3491G>C (p.Arg1164Thr) c.3479G>C (p.Arg1160Thr) c.3446G>C (p.Arg1149Thr) c.3389G>C (p.Arg1130Thr) c.3488G>C (p.Arg1163Thr) c.3464G>C (p.Arg1155Thr) c.3299G>C (p.Arg1100Thr) | |
| 1 | g.16986088C>T | CA338230699 | ATP13A2 | c.*133G>A (n.*133G>A) c.3374G>A (p.Arg1125Lys) n.1722G>A c.1094G>A (p.Arg365Lys) c.3506G>A (p.Arg1169Lys) c.3503G>A (p.Arg1168Lys) c.3491G>A (p.Arg1164Lys) c.3479G>A (p.Arg1160Lys) c.3446G>A (p.Arg1149Lys) c.3389G>A (p.Arg1130Lys) c.3488G>A (p.Arg1163Lys) c.3464G>A (p.Arg1155Lys) c.3299G>A (p.Arg1100Lys) | gnomAD v4 |
| 1 | g.16986088_16986089insAG | CA2643667745 | ATP13A2 | c.*132_*133insCT (n.*132_*133insCT) c.3373_3374insCT (p.Arg1125ThrfsTer?) n.1721_1722insCT c.1093_1094insCT (p.Arg365ThrfsTer?) c.3505_3506insCT (p.Arg1169ThrfsTer?) c.3502_3503insCT (p.Arg1168ThrfsTer?) c.3490_3491insCT (p.Arg1164ThrfsTer?) c.3478_3479insCT (p.Arg1160ThrfsTer?) c.3445_3446insCT (p.Arg1149ThrfsTer?) c.3388_3389insCT (p.Arg1130ThrfsTer?) c.3487_3488insCT (p.Arg1163ThrfsTer?) c.3463_3464insCT (p.Arg1155ThrfsTer?) c.3298_3299insCT (p.Arg1100ThrfsTer?) | gnomAD v4 |
| 1 | g.16986088_16986089insAGTCAGCTCCCTACTCACCATGGCTGGGCCAGGG | CA2643667747 | ATP13A2 | c.*132_*133insCCCTGGCCCAGCCATGGTGAGTAGGGAGCTGACT (n.*132_*133insCCCTGGCCCAGCCATGGTGAGTAGGGAGCTGACT) c.3373_3374insCCCTGGCCCAGCCATGGTGAGTAGGGAGCTGACT (p.Arg1125ThrfsTer7) n.1721_1722insCCCTGGCCCAGCCATGGTGAGTAGGGAGCTGACT c.1093_1094insCCCTGGCCCAGCCATGGTGAGTAGGGAGCTGACT (p.Arg365ThrfsTer7) c.3505_3506insCCCTGGCCCAGCCATGGTGAGTAGGGAGCTGACT (p.Arg1169ThrfsTer7) c.3502_3503insCCCTGGCCCAGCCATGGTGAGTAGGGAGCTGACT (p.Arg1168ThrfsTer7) c.3490_3491insCCCTGGCCCAGCCATGGTGAGTAGGGAGCTGACT (p.Arg1164ThrfsTer7) c.3478_3479insCCCTGGCCCAGCCATGGTGAGTAGGGAGCTGACT (p.Arg1160ThrfsTer7) c.3445_3446insCCCTGGCCCAGCCATGGTGAGTAGGGAGCTGACT (p.Arg1149ThrfsTer7) c.3388_3389insCCCTGGCCCAGCCATGGTGAGTAGGGAGCTGACT (p.Arg1130ThrfsTer7) c.3487_3488insCCCTGGCCCAGCCATGGTGAGTAGGGAGCTGACT (p.Arg1163ThrfsTer7) c.3463_3464insCCCTGGCCCAGCCATGGTGAGTAGGGAGCTGACT (p.Arg1155ThrfsTer7) c.3298_3299insCCCTGGCCCAGCCATGGTGAGTAGGGAGCTGACT (p.Arg1100ThrfsTer7) | gnomAD v4 |
| 1 | g.16986089T>A | CA338230702 | ATP13A2 | c.*132A>T (n.*132A>T) c.3373A>T (p.Arg1125Ter) n.1721A>T c.1093A>T (p.Arg365Ter) c.3505A>T (p.Arg1169Ter) c.3502A>T (p.Arg1168Ter) c.3490A>T (p.Arg1164Ter) c.3478A>T (p.Arg1160Ter) c.3445A>T (p.Arg1149Ter) c.3388A>T (p.Arg1130Ter) c.3487A>T (p.Arg1163Ter) c.3463A>T (p.Arg1155Ter) c.3298A>T (p.Arg1100Ter) | |
| 1 | g.16986089T>C | CA338230701 | ATP13A2 | c.*132A>G (n.*132A>G) c.3373A>G (p.Arg1125Gly) n.1721A>G c.1093A>G (p.Arg365Gly) c.3505A>G (p.Arg1169Gly) c.3502A>G (p.Arg1168Gly) c.3490A>G (p.Arg1164Gly) c.3478A>G (p.Arg1160Gly) c.3445A>G (p.Arg1149Gly) c.3388A>G (p.Arg1130Gly) c.3487A>G (p.Arg1163Gly) c.3463A>G (p.Arg1155Gly) c.3298A>G (p.Arg1100Gly) | |
| 1 | g.16986089T>G | CA2643667748 | ATP13A2 | c.*132A>C (n.*132A>C) c.3373A>C (p.Arg1125=) n.1721A>C c.1093A>C (p.Arg365=) c.3505A>C (p.Arg1169=) c.3502A>C (p.Arg1168=) c.3490A>C (p.Arg1164=) c.3478A>C (p.Arg1160=) c.3445A>C (p.Arg1149=) c.3388A>C (p.Arg1130=) c.3487A>C (p.Arg1163=) c.3463A>C (p.Arg1155=) c.3298A>C (p.Arg1100=) | dbSNP gnomAD v4 |
| 1 | g.16986090C>A | CA636422 | ATP13A2 | c.*131G>T (n.*131G>T) c.3372G>T (p.Pro1124=) n.1720G>T c.1092G>T (p.Pro364=) c.3504G>T (p.Pro1168=) c.3501G>T (p.Pro1167=) c.3489G>T (p.Pro1163=) c.3477G>T (p.Pro1159=) c.3444G>T (p.Pro1148=) c.3387G>T (p.Pro1129=) c.3486G>T (p.Pro1162=) c.3462G>T (p.Pro1154=) c.3297G>T (p.Pro1099=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.16986090C= | CA1156048821 | ATP13A2 | c.*131G= (n.*131G=) c.3372G= (p.Pro1124=) n.1720G= c.1092G= (p.Pro364=) c.3504G= (p.Pro1168=) c.3501G= (p.Pro1167=) c.3489G= (p.Pro1163=) c.3477G= (p.Pro1159=) c.3444G= (p.Pro1148=) c.3387G= (p.Pro1129=) c.3486G= (p.Pro1162=) c.3462G= (p.Pro1154=) c.3297G= (p.Pro1099=) | |
| 1 | g.16986090C>T | CA18624367 | ATP13A2 | c.*131G>A (n.*131G>A) c.3372G>A (p.Pro1124=) n.1720G>A c.1092G>A (p.Pro364=) c.3504G>A (p.Pro1168=) c.3501G>A (p.Pro1167=) c.3489G>A (p.Pro1163=) c.3477G>A (p.Pro1159=) c.3444G>A (p.Pro1148=) c.3387G>A (p.Pro1129=) c.3486G>A (p.Pro1162=) c.3462G>A (p.Pro1154=) c.3297G>A (p.Pro1099=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16986091G>A | CA636423 | ATP13A2 | c.*130C>T (n.*130C>T) c.3371C>T (p.Pro1124Leu) n.1719C>T c.1091C>T (p.Pro364Leu) c.3503C>T (p.Pro1168Leu) c.3500C>T (p.Pro1167Leu) c.3488C>T (p.Pro1163Leu) c.3476C>T (p.Pro1159Leu) c.3443C>T (p.Pro1148Leu) c.3386C>T (p.Pro1129Leu) c.3485C>T (p.Pro1162Leu) c.3461C>T (p.Pro1154Leu) c.3296C>T (p.Pro1099Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16986091G>C | CA338230704 | ATP13A2 | c.*130C>G (n.*130C>G) c.3371C>G (p.Pro1124Arg) n.1719C>G c.1091C>G (p.Pro364Arg) c.3503C>G (p.Pro1168Arg) c.3500C>G (p.Pro1167Arg) c.3488C>G (p.Pro1163Arg) c.3476C>G (p.Pro1159Arg) c.3443C>G (p.Pro1148Arg) c.3386C>G (p.Pro1129Arg) c.3485C>G (p.Pro1162Arg) c.3461C>G (p.Pro1154Arg) c.3296C>G (p.Pro1099Arg) | dbSNP gnomAD v4 |
| 1 | g.16986091G= | CA1143061182 | ATP13A2 | c.*130C= (n.*130C=) c.3371C= (p.Pro1124=) n.1719C= c.1091C= (p.Pro364=) c.3503C= (p.Pro1168=) c.3500C= (p.Pro1167=) c.3488C= (p.Pro1163=) c.3476C= (p.Pro1159=) c.3443C= (p.Pro1148=) c.3386C= (p.Pro1129=) c.3485C= (p.Pro1162=) c.3461C= (p.Pro1154=) c.3296C= (p.Pro1099=) | |
| 1 | g.16986091G>T | CA338230707 | ATP13A2 | c.*130C>A (n.*130C>A) c.3371C>A (p.Pro1124Gln) n.1719C>A c.1091C>A (p.Pro364Gln) c.3503C>A (p.Pro1168Gln) c.3500C>A (p.Pro1167Gln) c.3488C>A (p.Pro1163Gln) c.3476C>A (p.Pro1159Gln) c.3443C>A (p.Pro1148Gln) c.3386C>A (p.Pro1129Gln) c.3485C>A (p.Pro1162Gln) c.3461C>A (p.Pro1154Gln) c.3296C>A (p.Pro1099Gln) | gnomAD v4 |
| 1 | g.16986095del | CA2643667759 | ATP13A2 | c.*130del (n.*130del) c.3371del (p.Pro1124ArgfsTer?) n.1719del c.1091del (p.Pro364ArgfsTer?) c.3503del (p.Pro1168ArgfsTer?) c.3500del (p.Pro1167ArgfsTer?) c.3488del (p.Pro1163ArgfsTer?) c.3476del (p.Pro1159ArgfsTer?) c.3443del (p.Pro1148ArgfsTer?) c.3386del (p.Pro1129ArgfsTer?) c.3485del (p.Pro1162ArgfsTer?) c.3461del (p.Pro1154ArgfsTer?) c.3296del (p.Pro1099ArgfsTer?) | gnomAD v4 |
| 1 | g.16986092G>A | CA338230713 | ATP13A2 | c.*129C>T (n.*129C>T) c.3370C>T (p.Pro1124Ser) n.1718C>T c.1090C>T (p.Pro364Ser) c.3502C>T (p.Pro1168Ser) c.3499C>T (p.Pro1167Ser) c.3487C>T (p.Pro1163Ser) c.3475C>T (p.Pro1159Ser) c.3442C>T (p.Pro1148Ser) c.3385C>T (p.Pro1129Ser) c.3484C>T (p.Pro1162Ser) c.3460C>T (p.Pro1154Ser) c.3295C>T (p.Pro1099Ser) | COSMIC |
| 1 | g.16986092G>C | CA338230715 | ATP13A2 | c.*129C>G (n.*129C>G) c.3370C>G (p.Pro1124Ala) n.1718C>G c.1090C>G (p.Pro364Ala) c.3502C>G (p.Pro1168Ala) c.3499C>G (p.Pro1167Ala) c.3487C>G (p.Pro1163Ala) c.3475C>G (p.Pro1159Ala) c.3442C>G (p.Pro1148Ala) c.3385C>G (p.Pro1129Ala) c.3484C>G (p.Pro1162Ala) c.3460C>G (p.Pro1154Ala) c.3295C>G (p.Pro1099Ala) | |
| 1 | g.16986092G>T | CA338230714 | ATP13A2 | c.*129C>A (n.*129C>A) c.3370C>A (p.Pro1124Thr) n.1718C>A c.1090C>A (p.Pro364Thr) c.3502C>A (p.Pro1168Thr) c.3499C>A (p.Pro1167Thr) c.3487C>A (p.Pro1163Thr) c.3475C>A (p.Pro1159Thr) c.3442C>A (p.Pro1148Thr) c.3385C>A (p.Pro1129Thr) c.3484C>A (p.Pro1162Thr) c.3460C>A (p.Pro1154Thr) c.3295C>A (p.Pro1099Thr) | |
| 1 | g.16986093G>A | CA18624378 | ATP13A2 | c.*128C>T (n.*128C>T) c.3369C>T (p.Pro1123=) n.1717C>T c.1089C>T (p.Pro363=) c.3501C>T (p.Pro1167=) c.3498C>T (p.Pro1166=) c.3486C>T (p.Pro1162=) c.3474C>T (p.Pro1158=) c.3441C>T (p.Pro1147=) c.3384C>T (p.Pro1128=) c.3483C>T (p.Pro1161=) c.3459C>T (p.Pro1153=) c.3294C>T (p.Pro1098=) | dbSNP gnomAD v4 |
| 1 | g.16986093G= | CA1146766513 | ATP13A2 | c.*128C= (n.*128C=) c.3369C= (p.Pro1123=) n.1717C= c.1089C= (p.Pro363=) c.3501C= (p.Pro1167=) c.3498C= (p.Pro1166=) c.3486C= (p.Pro1162=) c.3474C= (p.Pro1158=) c.3441C= (p.Pro1147=) c.3384C= (p.Pro1128=) c.3483C= (p.Pro1161=) c.3459C= (p.Pro1153=) c.3294C= (p.Pro1098=) | |
| 1 | g.16986094G>A | CA338230719 | ATP13A2 | c.*127C>T (n.*127C>T) c.3368C>T (p.Pro1123Leu) n.1716C>T c.1088C>T (p.Pro363Leu) c.3500C>T (p.Pro1167Leu) c.3497C>T (p.Pro1166Leu) c.3485C>T (p.Pro1162Leu) c.3473C>T (p.Pro1158Leu) c.3440C>T (p.Pro1147Leu) c.3383C>T (p.Pro1128Leu) c.3482C>T (p.Pro1161Leu) c.3458C>T (p.Pro1153Leu) c.3293C>T (p.Pro1098Leu) | |
| 1 | g.16986094G>C | CA338230721 | ATP13A2 | c.*127C>G (n.*127C>G) c.3368C>G (p.Pro1123Arg) n.1716C>G c.1088C>G (p.Pro363Arg) c.3500C>G (p.Pro1167Arg) c.3497C>G (p.Pro1166Arg) c.3485C>G (p.Pro1162Arg) c.3473C>G (p.Pro1158Arg) c.3440C>G (p.Pro1147Arg) c.3383C>G (p.Pro1128Arg) c.3482C>G (p.Pro1161Arg) c.3458C>G (p.Pro1153Arg) c.3293C>G (p.Pro1098Arg) | |
| 1 | g.16986094G>T | CA338230724 | ATP13A2 | c.*127C>A (n.*127C>A) c.3368C>A (p.Pro1123His) n.1716C>A c.1088C>A (p.Pro363His) c.3500C>A (p.Pro1167His) c.3497C>A (p.Pro1166His) c.3485C>A (p.Pro1162His) c.3473C>A (p.Pro1158His) c.3440C>A (p.Pro1147His) c.3383C>A (p.Pro1128His) c.3482C>A (p.Pro1161His) c.3458C>A (p.Pro1153His) c.3293C>A (p.Pro1098His) | |
| 1 | g.16986095G>A | CA636424 | ATP13A2 | c.*126C>T (n.*126C>T) c.3367C>T (p.Pro1123Ser) n.1715C>T c.1087C>T (p.Pro363Ser) c.3499C>T (p.Pro1167Ser) c.3496C>T (p.Pro1166Ser) c.3484C>T (p.Pro1162Ser) c.3472C>T (p.Pro1158Ser) c.3439C>T (p.Pro1147Ser) c.3382C>T (p.Pro1128Ser) c.3481C>T (p.Pro1161Ser) c.3457C>T (p.Pro1153Ser) c.3292C>T (p.Pro1098Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16986095G>C | CA338230726 | ATP13A2 | c.*126C>G (n.*126C>G) c.3367C>G (p.Pro1123Ala) n.1715C>G c.1087C>G (p.Pro363Ala) c.3499C>G (p.Pro1167Ala) c.3496C>G (p.Pro1166Ala) c.3484C>G (p.Pro1162Ala) c.3472C>G (p.Pro1158Ala) c.3439C>G (p.Pro1147Ala) c.3382C>G (p.Pro1128Ala) c.3481C>G (p.Pro1161Ala) c.3457C>G (p.Pro1153Ala) c.3292C>G (p.Pro1098Ala) | |
| 1 | g.16986095G= | CA1156048832 | ATP13A2 | c.*126C= (n.*126C=) c.3367C= (p.Pro1123=) n.1715C= c.1087C= (p.Pro363=) c.3499C= (p.Pro1167=) c.3496C= (p.Pro1166=) c.3484C= (p.Pro1162=) c.3472C= (p.Pro1158=) c.3439C= (p.Pro1147=) c.3382C= (p.Pro1128=) c.3481C= (p.Pro1161=) c.3457C= (p.Pro1153=) c.3292C= (p.Pro1098=) | |
| 1 | g.16986095G>T | CA338230729 | ATP13A2 | c.*126C>A (n.*126C>A) c.3367C>A (p.Pro1123Thr) n.1715C>A c.1087C>A (p.Pro363Thr) c.3499C>A (p.Pro1167Thr) c.3496C>A (p.Pro1166Thr) c.3484C>A (p.Pro1162Thr) c.3472C>A (p.Pro1158Thr) c.3439C>A (p.Pro1147Thr) c.3382C>A (p.Pro1128Thr) c.3481C>A (p.Pro1161Thr) c.3457C>A (p.Pro1153Thr) c.3292C>A (p.Pro1098Thr) | gnomAD v4 |
| 1 | g.16986096A>G | CA2643667774 | ATP13A2 | c.*125T>C (n.*125T>C) c.3366T>C (p.Pro1122=) n.1714T>C c.1086T>C (p.Pro362=) c.3498T>C (p.Pro1166=) c.3495T>C (p.Pro1165=) c.3483T>C (p.Pro1161=) c.3471T>C (p.Pro1157=) c.3438T>C (p.Pro1146=) c.3381T>C (p.Pro1127=) c.3480T>C (p.Pro1160=) c.3456T>C (p.Pro1152=) c.3291T>C (p.Pro1097=) | gnomAD v4 |
| 1 | g.16986097G>A | CA636425 | ATP13A2 | c.*124C>T (n.*124C>T) c.3365C>T (p.Pro1122Leu) n.1713C>T c.1085C>T (p.Pro362Leu) c.3497C>T (p.Pro1166Leu) c.3494C>T (p.Pro1165Leu) c.3482C>T (p.Pro1161Leu) c.3470C>T (p.Pro1157Leu) c.3437C>T (p.Pro1146Leu) c.3380C>T (p.Pro1127Leu) c.3479C>T (p.Pro1160Leu) c.3455C>T (p.Pro1152Leu) c.3290C>T (p.Pro1097Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16986097G>C | CA338230732 | ATP13A2 | c.*124C>G (n.*124C>G) c.3365C>G (p.Pro1122Arg) n.1713C>G c.1085C>G (p.Pro362Arg) c.3497C>G (p.Pro1166Arg) c.3494C>G (p.Pro1165Arg) c.3482C>G (p.Pro1161Arg) c.3470C>G (p.Pro1157Arg) c.3437C>G (p.Pro1146Arg) c.3380C>G (p.Pro1127Arg) c.3479C>G (p.Pro1160Arg) c.3455C>G (p.Pro1152Arg) c.3290C>G (p.Pro1097Arg) | |
| 1 | g.16986097G= | CA1139774218 | ATP13A2 | c.*124C= (n.*124C=) c.3365C= (p.Pro1122=) n.1713C= c.1085C= (p.Pro362=) c.3497C= (p.Pro1166=) c.3494C= (p.Pro1165=) c.3482C= (p.Pro1161=) c.3470C= (p.Pro1157=) c.3437C= (p.Pro1146=) c.3380C= (p.Pro1127=) c.3479C= (p.Pro1160=) c.3455C= (p.Pro1152=) c.3290C= (p.Pro1097=) | |
| 1 | g.16986097G>T | CA338230734 | ATP13A2 | c.*124C>A (n.*124C>A) c.3365C>A (p.Pro1122His) n.1713C>A c.1085C>A (p.Pro362His) c.3497C>A (p.Pro1166His) c.3494C>A (p.Pro1165His) c.3482C>A (p.Pro1161His) c.3470C>A (p.Pro1157His) c.3437C>A (p.Pro1146His) c.3380C>A (p.Pro1127His) c.3479C>A (p.Pro1160His) c.3455C>A (p.Pro1152His) c.3290C>A (p.Pro1097His) | |
| 1 | g.16986098G>A | CA338230740 | ATP13A2 | c.*123C>T (n.*123C>T) c.3364C>T (p.Pro1122Ser) n.1712C>T c.1084C>T (p.Pro362Ser) c.3496C>T (p.Pro1166Ser) c.3493C>T (p.Pro1165Ser) c.3481C>T (p.Pro1161Ser) c.3469C>T (p.Pro1157Ser) c.3436C>T (p.Pro1146Ser) c.3379C>T (p.Pro1127Ser) c.3478C>T (p.Pro1160Ser) c.3454C>T (p.Pro1152Ser) c.3289C>T (p.Pro1097Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.16986098G>C | CA338230738 | ATP13A2 | c.*123C>G (n.*123C>G) c.3364C>G (p.Pro1122Ala) n.1712C>G c.1084C>G (p.Pro362Ala) c.3496C>G (p.Pro1166Ala) c.3493C>G (p.Pro1165Ala) c.3481C>G (p.Pro1161Ala) c.3469C>G (p.Pro1157Ala) c.3436C>G (p.Pro1146Ala) c.3379C>G (p.Pro1127Ala) c.3478C>G (p.Pro1160Ala) c.3454C>G (p.Pro1152Ala) c.3289C>G (p.Pro1097Ala) | |
| 1 | g.16986098G= | CA1156048843 | ATP13A2 | c.*123C= (n.*123C=) c.3364C= (p.Pro1122=) n.1712C= c.1084C= (p.Pro362=) c.3496C= (p.Pro1166=) c.3493C= (p.Pro1165=) c.3481C= (p.Pro1161=) c.3469C= (p.Pro1157=) c.3436C= (p.Pro1146=) c.3379C= (p.Pro1127=) c.3478C= (p.Pro1160=) c.3454C= (p.Pro1152=) c.3289C= (p.Pro1097=) | |
| 1 | g.16986098G>T | CA338230737 | ATP13A2 | c.*123C>A (n.*123C>A) c.3364C>A (p.Pro1122Thr) n.1712C>A c.1084C>A (p.Pro362Thr) c.3496C>A (p.Pro1166Thr) c.3493C>A (p.Pro1165Thr) c.3481C>A (p.Pro1161Thr) c.3469C>A (p.Pro1157Thr) c.3436C>A (p.Pro1146Thr) c.3379C>A (p.Pro1127Thr) c.3478C>A (p.Pro1160Thr) c.3454C>A (p.Pro1152Thr) c.3289C>A (p.Pro1097Thr) | gnomAD v4 |
| 1 | g.16986099A>T | CA2643667792 | ATP13A2 | c.*122T>A (n.*122T>A) c.3363T>A (p.Thr1121=) n.1711T>A c.1083T>A (p.Thr361=) c.3495T>A (p.Thr1165=) c.3492T>A (p.Thr1164=) c.3480T>A (p.Thr1160=) c.3468T>A (p.Thr1156=) c.3435T>A (p.Thr1145=) c.3378T>A (p.Thr1126=) c.3477T>A (p.Thr1159=) c.3453T>A (p.Thr1151=) c.3288T>A (p.Thr1096=) | gnomAD v4 |
| 1 | g.16986100G>A | CA338230742 | ATP13A2 | c.*121C>T (n.*121C>T) c.3362C>T (p.Thr1121Ile) n.1710C>T c.1082C>T (p.Thr361Ile) c.3494C>T (p.Thr1165Ile) c.3491C>T (p.Thr1164Ile) c.3479C>T (p.Thr1160Ile) c.3467C>T (p.Thr1156Ile) c.3434C>T (p.Thr1145Ile) c.3377C>T (p.Thr1126Ile) c.3476C>T (p.Thr1159Ile) c.3452C>T (p.Thr1151Ile) c.3287C>T (p.Thr1096Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.16986100G>C | CA338230744 | ATP13A2 | c.*121C>G (n.*121C>G) c.3362C>G (p.Thr1121Ser) n.1710C>G c.1082C>G (p.Thr361Ser) c.3494C>G (p.Thr1165Ser) c.3491C>G (p.Thr1164Ser) c.3479C>G (p.Thr1160Ser) c.3467C>G (p.Thr1156Ser) c.3434C>G (p.Thr1145Ser) c.3377C>G (p.Thr1126Ser) c.3476C>G (p.Thr1159Ser) c.3452C>G (p.Thr1151Ser) c.3287C>G (p.Thr1096Ser) | |
| 1 | g.16986100G= | CA1156048851 | ATP13A2 | c.*121C= (n.*121C=) c.3362C= (p.Thr1121=) n.1710C= c.1082C= (p.Thr361=) c.3494C= (p.Thr1165=) c.3491C= (p.Thr1164=) c.3479C= (p.Thr1160=) c.3467C= (p.Thr1156=) c.3434C= (p.Thr1145=) c.3377C= (p.Thr1126=) c.3476C= (p.Thr1159=) c.3452C= (p.Thr1151=) c.3287C= (p.Thr1096=) | |
| 1 | g.16986100G>T | CA636426 | ATP13A2 | c.*121C>A (n.*121C>A) c.3362C>A (p.Thr1121Asn) n.1710C>A c.1082C>A (p.Thr361Asn) c.3494C>A (p.Thr1165Asn) c.3491C>A (p.Thr1164Asn) c.3479C>A (p.Thr1160Asn) c.3467C>A (p.Thr1156Asn) c.3434C>A (p.Thr1145Asn) c.3377C>A (p.Thr1126Asn) c.3476C>A (p.Thr1159Asn) c.3452C>A (p.Thr1151Asn) c.3287C>A (p.Thr1096Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.16986101T>A | CA636427 | ATP13A2 | c.*120A>T (n.*120A>T) c.3361A>T (p.Thr1121Ser) n.1709A>T c.1081A>T (p.Thr361Ser) c.3493A>T (p.Thr1165Ser) c.3490A>T (p.Thr1164Ser) c.3478A>T (p.Thr1160Ser) c.3466A>T (p.Thr1156Ser) c.3433A>T (p.Thr1145Ser) c.3376A>T (p.Thr1126Ser) c.3475A>T (p.Thr1159Ser) c.3451A>T (p.Thr1151Ser) c.3286A>T (p.Thr1096Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16986101T>C | CA338230748 | ATP13A2 | c.*120A>G (n.*120A>G) c.3361A>G (p.Thr1121Ala) n.1709A>G c.1081A>G (p.Thr361Ala) c.3493A>G (p.Thr1165Ala) c.3490A>G (p.Thr1164Ala) c.3478A>G (p.Thr1160Ala) c.3466A>G (p.Thr1156Ala) c.3433A>G (p.Thr1145Ala) c.3376A>G (p.Thr1126Ala) c.3475A>G (p.Thr1159Ala) c.3451A>G (p.Thr1151Ala) c.3286A>G (p.Thr1096Ala) | gnomAD v4 |
| 1 | g.16986101T>G | CA338230750 | ATP13A2 | c.*120A>C (n.*120A>C) c.3361A>C (p.Thr1121Pro) n.1709A>C c.1081A>C (p.Thr361Pro) c.3493A>C (p.Thr1165Pro) c.3490A>C (p.Thr1164Pro) c.3478A>C (p.Thr1160Pro) c.3466A>C (p.Thr1156Pro) c.3433A>C (p.Thr1145Pro) c.3376A>C (p.Thr1126Pro) c.3475A>C (p.Thr1159Pro) c.3451A>C (p.Thr1151Pro) c.3286A>C (p.Thr1096Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16986101T= | CA1140610299 | ATP13A2 | c.*120A= (n.*120A=) c.3361A= (p.Thr1121=) n.1709A= c.1081A= (p.Thr361=) c.3493A= (p.Thr1165=) c.3490A= (p.Thr1164=) c.3478A= (p.Thr1160=) c.3466A= (p.Thr1156=) c.3433A= (p.Thr1145=) c.3376A= (p.Thr1126=) c.3475A= (p.Thr1159=) c.3451A= (p.Thr1151=) c.3286A= (p.Thr1096=) | |
| 1 | g.16986102G>A | CA636428 | ATP13A2 | c.*119C>T (n.*119C>T) c.3360C>T (p.Tyr1120=) n.1708C>T c.1080C>T (p.Tyr360=) c.3492C>T (p.Tyr1164=) c.3489C>T (p.Tyr1163=) c.3477C>T (p.Tyr1159=) c.3465C>T (p.Tyr1155=) c.3432C>T (p.Tyr1144=) c.3375C>T (p.Tyr1125=) c.3474C>T (p.Tyr1158=) c.3450C>T (p.Tyr1150=) c.3285C>T (p.Tyr1095=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16986102G>C | CA338230753 | ATP13A2 | c.*119C>G (n.*119C>G) c.3360C>G (p.Tyr1120Ter) n.1708C>G c.1080C>G (p.Tyr360Ter) c.3492C>G (p.Tyr1164Ter) c.3489C>G (p.Tyr1163Ter) c.3477C>G (p.Tyr1159Ter) c.3465C>G (p.Tyr1155Ter) c.3432C>G (p.Tyr1144Ter) c.3375C>G (p.Tyr1125Ter) c.3474C>G (p.Tyr1158Ter) c.3450C>G (p.Tyr1150Ter) c.3285C>G (p.Tyr1095Ter) | dbSNP gnomAD v4 |
| 1 | g.16986102G= | CA1156048862 | ATP13A2 | c.*119C= (n.*119C=) c.3360C= (p.Tyr1120=) n.1708C= c.1080C= (p.Tyr360=) c.3492C= (p.Tyr1164=) c.3489C= (p.Tyr1163=) c.3477C= (p.Tyr1159=) c.3465C= (p.Tyr1155=) c.3432C= (p.Tyr1144=) c.3375C= (p.Tyr1125=) c.3474C= (p.Tyr1158=) c.3450C= (p.Tyr1150=) c.3285C= (p.Tyr1095=) | |
| 1 | g.16986102G>T | CA338230755 | ATP13A2 | c.*119C>A (n.*119C>A) c.3360C>A (p.Tyr1120Ter) n.1708C>A c.1080C>A (p.Tyr360Ter) c.3492C>A (p.Tyr1164Ter) c.3489C>A (p.Tyr1163Ter) c.3477C>A (p.Tyr1159Ter) c.3465C>A (p.Tyr1155Ter) c.3432C>A (p.Tyr1144Ter) c.3375C>A (p.Tyr1125Ter) c.3474C>A (p.Tyr1158Ter) c.3450C>A (p.Tyr1150Ter) c.3285C>A (p.Tyr1095Ter) | |
| 1 | g.16986103T>A | CA338230758 | ATP13A2 | c.*118A>T (n.*118A>T) c.3359A>T (p.Tyr1120Phe) n.1707A>T c.1079A>T (p.Tyr360Phe) c.3491A>T (p.Tyr1164Phe) c.3488A>T (p.Tyr1163Phe) c.3476A>T (p.Tyr1159Phe) c.3464A>T (p.Tyr1155Phe) c.3431A>T (p.Tyr1144Phe) c.3374A>T (p.Tyr1125Phe) c.3473A>T (p.Tyr1158Phe) c.3449A>T (p.Tyr1150Phe) c.3284A>T (p.Tyr1095Phe) | |
| 1 | g.16986103T>C | CA338230759 | ATP13A2 | c.*118A>G (n.*118A>G) c.3359A>G (p.Tyr1120Cys) n.1707A>G c.1079A>G (p.Tyr360Cys) c.3491A>G (p.Tyr1164Cys) c.3488A>G (p.Tyr1163Cys) c.3476A>G (p.Tyr1159Cys) c.3464A>G (p.Tyr1155Cys) c.3431A>G (p.Tyr1144Cys) c.3374A>G (p.Tyr1125Cys) c.3473A>G (p.Tyr1158Cys) c.3449A>G (p.Tyr1150Cys) c.3284A>G (p.Tyr1095Cys) | gnomAD v4 |
| 1 | g.16986103T>G | CA338230761 | ATP13A2 | c.*118A>C (n.*118A>C) c.3359A>C (p.Tyr1120Ser) n.1707A>C c.1079A>C (p.Tyr360Ser) c.3491A>C (p.Tyr1164Ser) c.3488A>C (p.Tyr1163Ser) c.3476A>C (p.Tyr1159Ser) c.3464A>C (p.Tyr1155Ser) c.3431A>C (p.Tyr1144Ser) c.3374A>C (p.Tyr1125Ser) c.3473A>C (p.Tyr1158Ser) c.3449A>C (p.Tyr1150Ser) c.3284A>C (p.Tyr1095Ser) | |
| 1 | g.16986104A>C | CA338230764 | ATP13A2 | c.*117T>G (n.*117T>G) c.3358T>G (p.Tyr1120Asp) n.1706T>G c.1078T>G (p.Tyr360Asp) c.3490T>G (p.Tyr1164Asp) c.3487T>G (p.Tyr1163Asp) c.3475T>G (p.Tyr1159Asp) c.3463T>G (p.Tyr1155Asp) c.3430T>G (p.Tyr1144Asp) c.3373T>G (p.Tyr1125Asp) c.3472T>G (p.Tyr1158Asp) c.3448T>G (p.Tyr1150Asp) c.3283T>G (p.Tyr1095Asp) | |
| 1 | g.16986104A>G | CA338230767 | ATP13A2 | c.*117T>C (n.*117T>C) c.3358T>C (p.Tyr1120His) n.1706T>C c.1078T>C (p.Tyr360His) c.3490T>C (p.Tyr1164His) c.3487T>C (p.Tyr1163His) c.3475T>C (p.Tyr1159His) c.3463T>C (p.Tyr1155His) c.3430T>C (p.Tyr1144His) c.3373T>C (p.Tyr1125His) c.3472T>C (p.Tyr1158His) c.3448T>C (p.Tyr1150His) c.3283T>C (p.Tyr1095His) | gnomAD v4 |
| 1 | g.16986104A>T | CA338230762 | ATP13A2 | c.*117T>A (n.*117T>A) c.3358T>A (p.Tyr1120Asn) n.1706T>A c.1078T>A (p.Tyr360Asn) c.3490T>A (p.Tyr1164Asn) c.3487T>A (p.Tyr1163Asn) c.3475T>A (p.Tyr1159Asn) c.3463T>A (p.Tyr1155Asn) c.3430T>A (p.Tyr1144Asn) c.3373T>A (p.Tyr1125Asn) c.3472T>A (p.Tyr1158Asn) c.3448T>A (p.Tyr1150Asn) c.3283T>A (p.Tyr1095Asn) | |
| 1 | g.16986105G>A | CA521027706 | ATP13A2 | c.*116C>T (n.*116C>T) c.3357C>T (p.Val1119=) n.1705C>T c.1077C>T (p.Val359=) c.3489C>T (p.Val1163=) c.3486C>T (p.Val1162=) c.3474C>T (p.Val1158=) c.3462C>T (p.Val1154=) c.3429C>T (p.Val1143=) c.3372C>T (p.Val1124=) c.3471C>T (p.Val1157=) c.3447C>T (p.Val1149=) c.3282C>T (p.Val1094=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.16986105G= | CA1156048867 | ATP13A2 | c.*116C= (n.*116C=) c.3357C= (p.Val1119=) n.1705C= c.1077C= (p.Val359=) c.3489C= (p.Val1163=) c.3486C= (p.Val1162=) c.3474C= (p.Val1158=) c.3462C= (p.Val1154=) c.3429C= (p.Val1143=) c.3372C= (p.Val1124=) c.3471C= (p.Val1157=) c.3447C= (p.Val1149=) c.3282C= (p.Val1094=) | |
| 1 | g.16986106A>C | CA338230770 | ATP13A2 | c.*115T>G (n.*115T>G) c.3356T>G (p.Val1119Gly) n.1704T>G c.1076T>G (p.Val359Gly) c.3488T>G (p.Val1163Gly) c.3485T>G (p.Val1162Gly) c.3473T>G (p.Val1158Gly) c.3461T>G (p.Val1154Gly) c.3428T>G (p.Val1143Gly) c.3371T>G (p.Val1124Gly) c.3470T>G (p.Val1157Gly) c.3446T>G (p.Val1149Gly) c.3281T>G (p.Val1094Gly) | |
| 1 | g.16986106A>G | CA338230772 | ATP13A2 | c.*115T>C (n.*115T>C) c.3356T>C (p.Val1119Ala) n.1704T>C c.1076T>C (p.Val359Ala) c.3488T>C (p.Val1163Ala) c.3485T>C (p.Val1162Ala) c.3473T>C (p.Val1158Ala) c.3461T>C (p.Val1154Ala) c.3428T>C (p.Val1143Ala) c.3371T>C (p.Val1124Ala) c.3470T>C (p.Val1157Ala) c.3446T>C (p.Val1149Ala) c.3281T>C (p.Val1094Ala) | |
| 1 | g.16986106A>T | CA338230774 | ATP13A2 | c.*115T>A (n.*115T>A) c.3356T>A (p.Val1119Asp) n.1704T>A c.1076T>A (p.Val359Asp) c.3488T>A (p.Val1163Asp) c.3485T>A (p.Val1162Asp) c.3473T>A (p.Val1158Asp) c.3461T>A (p.Val1154Asp) c.3428T>A (p.Val1143Asp) c.3371T>A (p.Val1124Asp) c.3470T>A (p.Val1157Asp) c.3446T>A (p.Val1149Asp) c.3281T>A (p.Val1094Asp) | gnomAD v4 |
| 1 | g.16986107C>A | CA338230776 | ATP13A2 | c.*114G>T (n.*114G>T) c.3355G>T (p.Val1119Phe) n.1703G>T c.1075G>T (p.Val359Phe) c.3487G>T (p.Val1163Phe) c.3484G>T (p.Val1162Phe) c.3472G>T (p.Val1158Phe) c.3460G>T (p.Val1154Phe) c.3427G>T (p.Val1143Phe) c.3370G>T (p.Val1124Phe) c.3469G>T (p.Val1157Phe) c.3445G>T (p.Val1149Phe) c.3280G>T (p.Val1094Phe) | |
| 1 | g.16986107C>G | CA338230778 | ATP13A2 | c.*114G>C (n.*114G>C) c.3355G>C (p.Val1119Leu) n.1703G>C c.1075G>C (p.Val359Leu) c.3487G>C (p.Val1163Leu) c.3484G>C (p.Val1162Leu) c.3472G>C (p.Val1158Leu) c.3460G>C (p.Val1154Leu) c.3427G>C (p.Val1143Leu) c.3370G>C (p.Val1124Leu) c.3469G>C (p.Val1157Leu) c.3445G>C (p.Val1149Leu) c.3280G>C (p.Val1094Leu) | |
| 1 | g.16986107C>T | CA338230781 | ATP13A2 | c.*114G>A (n.*114G>A) c.3355G>A (p.Val1119Ile) n.1703G>A c.1075G>A (p.Val359Ile) c.3487G>A (p.Val1163Ile) c.3484G>A (p.Val1162Ile) c.3472G>A (p.Val1158Ile) c.3460G>A (p.Val1154Ile) c.3427G>A (p.Val1143Ile) c.3370G>A (p.Val1124Ile) c.3469G>A (p.Val1157Ile) c.3445G>A (p.Val1149Ile) c.3280G>A (p.Val1094Ile) | gnomAD v3 gnomAD v4 |
| 1 | g.16986108A= | CA1156048868 | ATP13A2 | c.*113T= (n.*113T=) c.3354T= (p.Thr1118=) n.1702T= c.1074T= (p.Thr358=) c.3486T= (p.Thr1162=) c.3483T= (p.Thr1161=) c.3471T= (p.Thr1157=) c.3459T= (p.Thr1153=) c.3426T= (p.Thr1142=) c.3369T= (p.Thr1123=) c.3468T= (p.Thr1156=) c.3444T= (p.Thr1148=) c.3279T= (p.Thr1093=) | |
| 1 | g.16986108A>G | CA636429 | ATP13A2 | c.*113T>C (n.*113T>C) c.3354T>C (p.Thr1118=) n.1702T>C c.1074T>C (p.Thr358=) c.3486T>C (p.Thr1162=) c.3483T>C (p.Thr1161=) c.3471T>C (p.Thr1157=) c.3459T>C (p.Thr1153=) c.3426T>C (p.Thr1142=) c.3369T>C (p.Thr1123=) c.3468T>C (p.Thr1156=) c.3444T>C (p.Thr1148=) c.3279T>C (p.Thr1093=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.16986109G>A | CA338230785 | ATP13A2 | c.*112C>T (n.*112C>T) c.3353C>T (p.Thr1118Ile) n.1701C>T c.1073C>T (p.Thr358Ile) c.3485C>T (p.Thr1162Ile) c.3482C>T (p.Thr1161Ile) c.3470C>T (p.Thr1157Ile) c.3458C>T (p.Thr1153Ile) c.3425C>T (p.Thr1142Ile) c.3368C>T (p.Thr1123Ile) c.3467C>T (p.Thr1156Ile) c.3443C>T (p.Thr1148Ile) c.3278C>T (p.Thr1093Ile) | |
| 1 | g.16986109G>C | CA338230787 | ATP13A2 | c.*112C>G (n.*112C>G) c.3353C>G (p.Thr1118Ser) n.1701C>G c.1073C>G (p.Thr358Ser) c.3485C>G (p.Thr1162Ser) c.3482C>G (p.Thr1161Ser) c.3470C>G (p.Thr1157Ser) c.3458C>G (p.Thr1153Ser) c.3425C>G (p.Thr1142Ser) c.3368C>G (p.Thr1123Ser) c.3467C>G (p.Thr1156Ser) c.3443C>G (p.Thr1148Ser) c.3278C>G (p.Thr1093Ser) | |
| 1 | g.16986109G>T | CA338230793 | ATP13A2 | c.*112C>A (n.*112C>A) c.3353C>A (p.Thr1118Asn) n.1701C>A c.1073C>A (p.Thr358Asn) c.3485C>A (p.Thr1162Asn) c.3482C>A (p.Thr1161Asn) c.3470C>A (p.Thr1157Asn) c.3458C>A (p.Thr1153Asn) c.3425C>A (p.Thr1142Asn) c.3368C>A (p.Thr1123Asn) c.3467C>A (p.Thr1156Asn) c.3443C>A (p.Thr1148Asn) c.3278C>A (p.Thr1093Asn) | |
| 1 | g.16986110T>A | CA338230795 | ATP13A2 | c.*111A>T (n.*111A>T) c.3352A>T (p.Thr1118Ser) n.1700A>T c.1072A>T (p.Thr358Ser) c.3484A>T (p.Thr1162Ser) c.3481A>T (p.Thr1161Ser) c.3469A>T (p.Thr1157Ser) c.3457A>T (p.Thr1153Ser) c.3424A>T (p.Thr1142Ser) c.3367A>T (p.Thr1123Ser) c.3466A>T (p.Thr1156Ser) c.3442A>T (p.Thr1148Ser) c.3277A>T (p.Thr1093Ser) | |
| 1 | g.16986110T>C | CA338230802 | ATP13A2 | c.*111A>G (n.*111A>G) c.3352A>G (p.Thr1118Ala) n.1700A>G c.1072A>G (p.Thr358Ala) c.3484A>G (p.Thr1162Ala) c.3481A>G (p.Thr1161Ala) c.3469A>G (p.Thr1157Ala) c.3457A>G (p.Thr1153Ala) c.3424A>G (p.Thr1142Ala) c.3367A>G (p.Thr1123Ala) c.3466A>G (p.Thr1156Ala) c.3442A>G (p.Thr1148Ala) c.3277A>G (p.Thr1093Ala) | |
| 1 | g.16986110T>G | CA338230803 | ATP13A2 | c.*111A>C (n.*111A>C) c.3352A>C (p.Thr1118Pro) n.1700A>C c.1072A>C (p.Thr358Pro) c.3484A>C (p.Thr1162Pro) c.3481A>C (p.Thr1161Pro) c.3469A>C (p.Thr1157Pro) c.3457A>C (p.Thr1153Pro) c.3424A>C (p.Thr1142Pro) c.3367A>C (p.Thr1123Pro) c.3466A>C (p.Thr1156Pro) c.3442A>C (p.Thr1148Pro) c.3277A>C (p.Thr1093Pro) | |
| 1 | g.16986111C= | CA1156048871 | ATP13A2 | c.*110G= (n.*110G=) c.3351G= (p.Ala1117=) n.1699G= c.1071G= (p.Ala357=) c.3483G= (p.Ala1161=) c.3480G= (p.Ala1160=) c.3468G= (p.Ala1156=) c.3456G= (p.Ala1152=) c.3423G= (p.Ala1141=) c.3366G= (p.Ala1122=) c.3465G= (p.Ala1155=) c.3441G= (p.Ala1147=) c.3276G= (p.Ala1092=) | |
| 1 | g.16986111C>T | CA521027708 | ATP13A2 | c.*110G>A (n.*110G>A) c.3351G>A (p.Ala1117=) n.1699G>A c.1071G>A (p.Ala357=) c.3483G>A (p.Ala1161=) c.3480G>A (p.Ala1160=) c.3468G>A (p.Ala1156=) c.3456G>A (p.Ala1152=) c.3423G>A (p.Ala1141=) c.3366G>A (p.Ala1122=) c.3465G>A (p.Ala1155=) c.3441G>A (p.Ala1147=) c.3276G>A (p.Ala1092=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16986112G>A | CA636430 | ATP13A2 | c.*109C>T (n.*109C>T) c.3350C>T (p.Ala1117Val) n.1698C>T c.1070C>T (p.Ala357Val) c.3482C>T (p.Ala1161Val) c.3479C>T (p.Ala1160Val) c.3467C>T (p.Ala1156Val) c.3455C>T (p.Ala1152Val) c.3422C>T (p.Ala1141Val) c.3365C>T (p.Ala1122Val) c.3464C>T (p.Ala1155Val) c.3440C>T (p.Ala1147Val) c.3275C>T (p.Ala1092Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16986112G>C | CA338230805 | ATP13A2 | c.*109C>G (n.*109C>G) c.3350C>G (p.Ala1117Gly) n.1698C>G c.1070C>G (p.Ala357Gly) c.3482C>G (p.Ala1161Gly) c.3479C>G (p.Ala1160Gly) c.3467C>G (p.Ala1156Gly) c.3455C>G (p.Ala1152Gly) c.3422C>G (p.Ala1141Gly) c.3365C>G (p.Ala1122Gly) c.3464C>G (p.Ala1155Gly) c.3440C>G (p.Ala1147Gly) c.3275C>G (p.Ala1092Gly) | gnomAD v4 |
| 1 | g.16986112G= | CA1148430764 | ATP13A2 | c.*109C= (n.*109C=) c.3350C= (p.Ala1117=) n.1698C= c.1070C= (p.Ala357=) c.3482C= (p.Ala1161=) c.3479C= (p.Ala1160=) c.3467C= (p.Ala1156=) c.3455C= (p.Ala1152=) c.3422C= (p.Ala1141=) c.3365C= (p.Ala1122=) c.3464C= (p.Ala1155=) c.3440C= (p.Ala1147=) c.3275C= (p.Ala1092=) | |
| 1 | g.16986112G>T | CA338230804 | ATP13A2 | c.*109C>A (n.*109C>A) c.3350C>A (p.Ala1117Glu) n.1698C>A c.1070C>A (p.Ala357Glu) c.3482C>A (p.Ala1161Glu) c.3479C>A (p.Ala1160Glu) c.3467C>A (p.Ala1156Glu) c.3455C>A (p.Ala1152Glu) c.3422C>A (p.Ala1141Glu) c.3365C>A (p.Ala1122Glu) c.3464C>A (p.Ala1155Glu) c.3440C>A (p.Ala1147Glu) c.3275C>A (p.Ala1092Glu) | gnomAD v4 |
| 1 | g.16986113C>A | CA338231181 | ATP13A2 | c.*108G>T (n.*108G>T) c.3349G>T (p.Ala1117Ser) n.1697G>T c.1069G>T (p.Ala357Ser) c.3481G>T (p.Ala1161Ser) c.3478G>T (p.Ala1160Ser) c.3466G>T (p.Ala1156Ser) c.3454G>T (p.Ala1152Ser) c.3421G>T (p.Ala1141Ser) c.3364G>T (p.Ala1122Ser) c.3463G>T (p.Ala1155Ser) c.3439G>T (p.Ala1147Ser) c.3274G>T (p.Ala1092Ser) | |
| 1 | g.16986113C>G | CA338231182 | ATP13A2 | c.*108G>C (n.*108G>C) c.3349G>C (p.Ala1117Pro) n.1697G>C c.1069G>C (p.Ala357Pro) c.3481G>C (p.Ala1161Pro) c.3478G>C (p.Ala1160Pro) c.3466G>C (p.Ala1156Pro) c.3454G>C (p.Ala1152Pro) c.3421G>C (p.Ala1141Pro) c.3364G>C (p.Ala1122Pro) c.3463G>C (p.Ala1155Pro) c.3439G>C (p.Ala1147Pro) c.3274G>C (p.Ala1092Pro) | |
| 1 | g.16986113C>T | CA338231185 | ATP13A2 | c.*108G>A (n.*108G>A) c.3349G>A (p.Ala1117Thr) n.1697G>A c.1069G>A (p.Ala357Thr) c.3481G>A (p.Ala1161Thr) c.3478G>A (p.Ala1160Thr) c.3466G>A (p.Ala1156Thr) c.3454G>A (p.Ala1152Thr) c.3421G>A (p.Ala1141Thr) c.3364G>A (p.Ala1122Thr) c.3463G>A (p.Ala1155Thr) c.3439G>A (p.Ala1147Thr) c.3274G>A (p.Ala1092Thr) | |
| 1 | g.16986114C>A | CA338231187 | ATP13A2 | c.*107G>T (n.*107G>T) c.3348G>T (p.Leu1116Phe) n.1696G>T c.1068G>T (p.Leu356Phe) c.3480G>T (p.Leu1160Phe) c.3477G>T (p.Leu1159Phe) c.3465G>T (p.Leu1155Phe) c.3453G>T (p.Leu1151Phe) c.3420G>T (p.Leu1140Phe) c.3363G>T (p.Leu1121Phe) c.3462G>T (p.Leu1154Phe) c.3438G>T (p.Leu1146Phe) c.3273G>T (p.Leu1091Phe) | |
| 1 | g.16986114C>G | CA338231188 | ATP13A2 | c.*107G>C (n.*107G>C) c.3348G>C (p.Leu1116Phe) n.1696G>C c.1068G>C (p.Leu356Phe) c.3480G>C (p.Leu1160Phe) c.3477G>C (p.Leu1159Phe) c.3465G>C (p.Leu1155Phe) c.3453G>C (p.Leu1151Phe) c.3420G>C (p.Leu1140Phe) c.3363G>C (p.Leu1121Phe) c.3462G>C (p.Leu1154Phe) c.3438G>C (p.Leu1146Phe) c.3273G>C (p.Leu1091Phe) | |
| 1 | g.16986115A>C | CA338231205 | ATP13A2 | c.*106T>G (n.*106T>G) c.3347T>G (p.Leu1116Trp) n.1695T>G c.1067T>G (p.Leu356Trp) c.3479T>G (p.Leu1160Trp) c.3476T>G (p.Leu1159Trp) c.3464T>G (p.Leu1155Trp) c.3452T>G (p.Leu1151Trp) c.3419T>G (p.Leu1140Trp) c.3362T>G (p.Leu1121Trp) c.3461T>G (p.Leu1154Trp) c.3437T>G (p.Leu1146Trp) c.3272T>G (p.Leu1091Trp) | |
| 1 | g.16986115A>G | CA338231206 | ATP13A2 | c.*106T>C (n.*106T>C) c.3347T>C (p.Leu1116Ser) n.1695T>C c.1067T>C (p.Leu356Ser) c.3479T>C (p.Leu1160Ser) c.3476T>C (p.Leu1159Ser) c.3464T>C (p.Leu1155Ser) c.3452T>C (p.Leu1151Ser) c.3419T>C (p.Leu1140Ser) c.3362T>C (p.Leu1121Ser) c.3461T>C (p.Leu1154Ser) c.3437T>C (p.Leu1146Ser) c.3272T>C (p.Leu1091Ser) | |
| 1 | g.16986115A>T | CA338231207 | ATP13A2 | c.*106T>A (n.*106T>A) c.3347T>A (p.Leu1116Ter) n.1695T>A c.1067T>A (p.Leu356Ter) c.3479T>A (p.Leu1160Ter) c.3476T>A (p.Leu1159Ter) c.3464T>A (p.Leu1155Ter) c.3452T>A (p.Leu1151Ter) c.3419T>A (p.Leu1140Ter) c.3362T>A (p.Leu1121Ter) c.3461T>A (p.Leu1154Ter) c.3437T>A (p.Leu1146Ter) c.3272T>A (p.Leu1091Ter) | |
| 1 | g.16986116A>C | CA338231208 | ATP13A2 | c.*105T>G (n.*105T>G) c.3346T>G (p.Leu1116Val) n.1694T>G c.1066T>G (p.Leu356Val) c.3478T>G (p.Leu1160Val) c.3475T>G (p.Leu1159Val) c.3463T>G (p.Leu1155Val) c.3451T>G (p.Leu1151Val) c.3418T>G (p.Leu1140Val) c.3361T>G (p.Leu1121Val) c.3460T>G (p.Leu1154Val) c.3436T>G (p.Leu1146Val) c.3271T>G (p.Leu1091Val) | |
| 1 | g.16986116A>G | CA2742638023 | ATP13A2 | c.*105T>C (n.*105T>C) c.3346T>C (p.Leu1116=) n.1694T>C c.1066T>C (p.Leu356=) c.3478T>C (p.Leu1160=) c.3475T>C (p.Leu1159=) c.3463T>C (p.Leu1155=) c.3451T>C (p.Leu1151=) c.3418T>C (p.Leu1140=) c.3361T>C (p.Leu1121=) c.3460T>C (p.Leu1154=) c.3436T>C (p.Leu1146=) c.3271T>C (p.Leu1091=) | |
| 1 | g.16986116A>T | CA338231209 | ATP13A2 | c.*105T>A (n.*105T>A) c.3346T>A (p.Leu1116Met) n.1694T>A c.1066T>A (p.Leu356Met) c.3478T>A (p.Leu1160Met) c.3475T>A (p.Leu1159Met) c.3463T>A (p.Leu1155Met) c.3451T>A (p.Leu1151Met) c.3418T>A (p.Leu1140Met) c.3361T>A (p.Leu1121Met) c.3460T>A (p.Leu1154Met) c.3436T>A (p.Leu1146Met) c.3271T>A (p.Leu1091Met) | |
| 1 | g.16986117C>A | CA18624429 | ATP13A2 | c.*104G>T (n.*104G>T) c.3345G>T (p.Arg1115Ser) n.1693G>T c.1065G>T (p.Arg355Ser) c.3477G>T (p.Arg1159Ser) c.3474G>T (p.Arg1158Ser) c.3462G>T (p.Arg1154Ser) c.3450G>T (p.Arg1150Ser) c.3417G>T (p.Arg1139Ser) c.3360G>T (p.Arg1120Ser) c.3459G>T (p.Arg1153Ser) c.3435G>T (p.Arg1145Ser) c.3270G>T (p.Arg1090Ser) | dbSNP gnomAD v4 |
| 1 | g.16986117C= | CA1156048881 | ATP13A2 | c.*104G= (n.*104G=) c.3345G= (p.Arg1115=) n.1693G= c.1065G= (p.Arg355=) c.3477G= (p.Arg1159=) c.3474G= (p.Arg1158=) c.3462G= (p.Arg1154=) c.3450G= (p.Arg1150=) c.3417G= (p.Arg1139=) c.3360G= (p.Arg1120=) c.3459G= (p.Arg1153=) c.3435G= (p.Arg1145=) c.3270G= (p.Arg1090=) | |
| 1 | g.16986117C>G | CA338231220 | ATP13A2 | c.*104G>C (n.*104G>C) c.3345G>C (p.Arg1115Ser) n.1693G>C c.1065G>C (p.Arg355Ser) c.3477G>C (p.Arg1159Ser) c.3474G>C (p.Arg1158Ser) c.3462G>C (p.Arg1154Ser) c.3450G>C (p.Arg1150Ser) c.3417G>C (p.Arg1139Ser) c.3360G>C (p.Arg1120Ser) c.3459G>C (p.Arg1153Ser) c.3435G>C (p.Arg1145Ser) c.3270G>C (p.Arg1090Ser) | |
| 1 | g.16986117C>T | CA521449589 | ATP13A2 | c.*104G>A (n.*104G>A) c.3345G>A (p.Arg1115=) n.1693G>A c.1065G>A (p.Arg355=) c.3477G>A (p.Arg1159=) c.3474G>A (p.Arg1158=) c.3462G>A (p.Arg1154=) c.3450G>A (p.Arg1150=) c.3417G>A (p.Arg1139=) c.3360G>A (p.Arg1120=) c.3459G>A (p.Arg1153=) c.3435G>A (p.Arg1145=) c.3270G>A (p.Arg1090=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16986118C>A | CA338231224 | ATP13A2 | c.*103G>T (n.*103G>T) c.3344G>T (p.Arg1115Met) n.1692G>T c.1064G>T (p.Arg355Met) c.3476G>T (p.Arg1159Met) c.3473G>T (p.Arg1158Met) c.3461G>T (p.Arg1154Met) c.3449G>T (p.Arg1150Met) c.3416G>T (p.Arg1139Met) c.3359G>T (p.Arg1120Met) c.3458G>T (p.Arg1153Met) c.3434G>T (p.Arg1145Met) c.3269G>T (p.Arg1090Met) | |
| 1 | g.16986118C= | CA1156048886 | ATP13A2 | c.*103G= (n.*103G=) c.3344G= (p.Arg1115=) n.1692G= c.1064G= (p.Arg355=) c.3476G= (p.Arg1159=) c.3473G= (p.Arg1158=) c.3461G= (p.Arg1154=) c.3449G= (p.Arg1150=) c.3416G= (p.Arg1139=) c.3359G= (p.Arg1120=) c.3458G= (p.Arg1153=) c.3434G= (p.Arg1145=) c.3269G= (p.Arg1090=) | |
| 1 | g.16986118C>G | CA338231223 | ATP13A2 | c.*103G>C (n.*103G>C) c.3344G>C (p.Arg1115Thr) n.1692G>C c.1064G>C (p.Arg355Thr) c.3476G>C (p.Arg1159Thr) c.3473G>C (p.Arg1158Thr) c.3461G>C (p.Arg1154Thr) c.3449G>C (p.Arg1150Thr) c.3416G>C (p.Arg1139Thr) c.3359G>C (p.Arg1120Thr) c.3458G>C (p.Arg1153Thr) c.3434G>C (p.Arg1145Thr) c.3269G>C (p.Arg1090Thr) | |
| 1 | g.16986118C>T | CA636431 | ATP13A2 | c.*103G>A (n.*103G>A) c.3344G>A (p.Arg1115Lys) n.1692G>A c.1064G>A (p.Arg355Lys) c.3476G>A (p.Arg1159Lys) c.3473G>A (p.Arg1158Lys) c.3461G>A (p.Arg1154Lys) c.3449G>A (p.Arg1150Lys) c.3416G>A (p.Arg1139Lys) c.3359G>A (p.Arg1120Lys) c.3458G>A (p.Arg1153Lys) c.3434G>A (p.Arg1145Lys) c.3269G>A (p.Arg1090Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.16986119T>A | CA338231225 | ATP13A2 | c.*102A>T (n.*102A>T) c.3343A>T (p.Arg1115Trp) n.1691A>T c.1063A>T (p.Arg355Trp) c.3475A>T (p.Arg1159Trp) c.3472A>T (p.Arg1158Trp) c.3460A>T (p.Arg1154Trp) c.3448A>T (p.Arg1150Trp) c.3415A>T (p.Arg1139Trp) c.3358A>T (p.Arg1120Trp) c.3457A>T (p.Arg1153Trp) c.3433A>T (p.Arg1145Trp) c.3268A>T (p.Arg1090Trp) | |
| 1 | g.16986119T>C | CA338231226 | ATP13A2 | c.*102A>G (n.*102A>G) c.3343A>G (p.Arg1115Gly) n.1691A>G c.1063A>G (p.Arg355Gly) c.3475A>G (p.Arg1159Gly) c.3472A>G (p.Arg1158Gly) c.3460A>G (p.Arg1154Gly) c.3448A>G (p.Arg1150Gly) c.3415A>G (p.Arg1139Gly) c.3358A>G (p.Arg1120Gly) c.3457A>G (p.Arg1153Gly) c.3433A>G (p.Arg1145Gly) c.3268A>G (p.Arg1090Gly) | |
| 1 | g.16986120C>T | CA2643667877 | ATP13A2 | c.*101G>A (n.*101G>A) c.3342G>A (p.Leu1114=) n.1690G>A c.1062G>A (p.Leu354=) c.3474G>A (p.Leu1158=) c.3471G>A (p.Leu1157=) c.3459G>A (p.Leu1153=) c.3447G>A (p.Leu1149=) c.3414G>A (p.Leu1138=) c.3357G>A (p.Leu1119=) c.3456G>A (p.Leu1152=) c.3432G>A (p.Leu1144=) c.3267G>A (p.Leu1089=) | gnomAD v4 |
| 1 | g.16986121A= | CA1156048891 | ATP13A2 | c.*100T= (n.*100T=) c.3341T= (p.Leu1114=) n.1689T= c.1061T= (p.Leu354=) c.3473T= (p.Leu1158=) c.3470T= (p.Leu1157=) c.3458T= (p.Leu1153=) c.3446T= (p.Leu1149=) c.3413T= (p.Leu1138=) c.3356T= (p.Leu1119=) c.3455T= (p.Leu1152=) c.3431T= (p.Leu1144=) c.3266T= (p.Leu1089=) | |
| 1 | g.16986121A>C | CA338231229 | ATP13A2 | c.*100T>G (n.*100T>G) c.3341T>G (p.Leu1114Arg) n.1689T>G c.1061T>G (p.Leu354Arg) c.3473T>G (p.Leu1158Arg) c.3470T>G (p.Leu1157Arg) c.3458T>G (p.Leu1153Arg) c.3446T>G (p.Leu1149Arg) c.3413T>G (p.Leu1138Arg) c.3356T>G (p.Leu1119Arg) c.3455T>G (p.Leu1152Arg) c.3431T>G (p.Leu1144Arg) c.3266T>G (p.Leu1089Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16986121A>G | CA338231231 | ATP13A2 | c.*100T>C (n.*100T>C) c.3341T>C (p.Leu1114Pro) n.1689T>C c.1061T>C (p.Leu354Pro) c.3473T>C (p.Leu1158Pro) c.3470T>C (p.Leu1157Pro) c.3458T>C (p.Leu1153Pro) c.3446T>C (p.Leu1149Pro) c.3413T>C (p.Leu1138Pro) c.3356T>C (p.Leu1119Pro) c.3455T>C (p.Leu1152Pro) c.3431T>C (p.Leu1144Pro) c.3266T>C (p.Leu1089Pro) | |
| 1 | g.16986121A>T | CA338231232 | ATP13A2 | c.*100T>A (n.*100T>A) c.3341T>A (p.Leu1114Gln) n.1689T>A c.1061T>A (p.Leu354Gln) c.3473T>A (p.Leu1158Gln) c.3470T>A (p.Leu1157Gln) c.3458T>A (p.Leu1153Gln) c.3446T>A (p.Leu1149Gln) c.3413T>A (p.Leu1138Gln) c.3356T>A (p.Leu1119Gln) c.3455T>A (p.Leu1152Gln) c.3431T>A (p.Leu1144Gln) c.3266T>A (p.Leu1089Gln) | |
| 1 | g.16986121_16986122del | CA2643667881 | ATP13A2 | c.*99_*100del (n.*99_*100del) c.3340_3341del (p.Leu1114GlufsTer20) n.1688_1689del c.1060_1061del (p.Leu354GlufsTer20) c.3472_3473del (p.Leu1158GlufsTer20) c.3469_3470del (p.Leu1157GlufsTer20) c.3457_3458del (p.Leu1153GlufsTer20) c.3445_3446del (p.Leu1149GlufsTer20) c.3412_3413del (p.Leu1138GlufsTer20) c.3355_3356del (p.Leu1119GlufsTer20) c.3454_3455del (p.Leu1152GlufsTer20) c.3430_3431del (p.Leu1144GlufsTer20) c.3265_3266del (p.Leu1089GlufsTer20) | gnomAD v4 |
| 1 | g.16986122G>C | CA338231233 | ATP13A2 | c.*99C>G (n.*99C>G) c.3340C>G (p.Leu1114Val) n.1688C>G c.1060C>G (p.Leu354Val) c.3472C>G (p.Leu1158Val) c.3469C>G (p.Leu1157Val) c.3457C>G (p.Leu1153Val) c.3445C>G (p.Leu1149Val) c.3412C>G (p.Leu1138Val) c.3355C>G (p.Leu1119Val) c.3454C>G (p.Leu1152Val) c.3430C>G (p.Leu1144Val) c.3265C>G (p.Leu1089Val) | |
| 1 | g.16986122G>T | CA338231236 | ATP13A2 | c.*99C>A (n.*99C>A) c.3340C>A (p.Leu1114Met) n.1688C>A c.1060C>A (p.Leu354Met) c.3472C>A (p.Leu1158Met) c.3469C>A (p.Leu1157Met) c.3457C>A (p.Leu1153Met) c.3445C>A (p.Leu1149Met) c.3412C>A (p.Leu1138Met) c.3355C>A (p.Leu1119Met) c.3454C>A (p.Leu1152Met) c.3430C>A (p.Leu1144Met) c.3265C>A (p.Leu1089Met) | gnomAD v4 |
| 1 | g.16986123G>A | CA890928389 | ATP13A2 | c.*98C>T (n.*98C>T) c.3339C>T (p.Ser1113=) n.1687C>T c.1059C>T (p.Ser353=) c.3471C>T (p.Ser1157=) c.3468C>T (p.Ser1156=) c.3456C>T (p.Ser1152=) c.3444C>T (p.Ser1148=) c.3411C>T (p.Ser1137=) c.3354C>T (p.Ser1118=) c.3453C>T (p.Ser1151=) c.3429C>T (p.Ser1143=) c.3264C>T (p.Ser1088=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.16986123G= | CA1156048895 | ATP13A2 | c.*98C= (n.*98C=) c.3339C= (p.Ser1113=) n.1687C= c.1059C= (p.Ser353=) c.3471C= (p.Ser1157=) c.3468C= (p.Ser1156=) c.3456C= (p.Ser1152=) c.3444C= (p.Ser1148=) c.3411C= (p.Ser1137=) c.3354C= (p.Ser1118=) c.3453C= (p.Ser1151=) c.3429C= (p.Ser1143=) c.3264C= (p.Ser1088=) | |
| 1 | g.16986124G>A | CA636432 | ATP13A2 | c.*97C>T (n.*97C>T) c.3338C>T (p.Ser1113Phe) n.1686C>T c.1058C>T (p.Ser353Phe) c.3470C>T (p.Ser1157Phe) c.3467C>T (p.Ser1156Phe) c.3455C>T (p.Ser1152Phe) c.3443C>T (p.Ser1148Phe) c.3410C>T (p.Ser1137Phe) c.3353C>T (p.Ser1118Phe) c.3452C>T (p.Ser1151Phe) c.3428C>T (p.Ser1143Phe) c.3263C>T (p.Ser1088Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.16986124G>C | CA18624440 | ATP13A2 | c.*97C>G (n.*97C>G) c.3338C>G (p.Ser1113Cys) n.1686C>G c.1058C>G (p.Ser353Cys) c.3470C>G (p.Ser1157Cys) c.3467C>G (p.Ser1156Cys) c.3455C>G (p.Ser1152Cys) c.3443C>G (p.Ser1148Cys) c.3410C>G (p.Ser1137Cys) c.3353C>G (p.Ser1118Cys) c.3452C>G (p.Ser1151Cys) c.3428C>G (p.Ser1143Cys) c.3263C>G (p.Ser1088Cys) | dbSNP gnomAD v4 |
| 1 | g.16986124G= | CA1156048898 | ATP13A2 | c.*97C= (n.*97C=) c.3338C= (p.Ser1113=) n.1686C= c.1058C= (p.Ser353=) c.3470C= (p.Ser1157=) c.3467C= (p.Ser1156=) c.3455C= (p.Ser1152=) c.3443C= (p.Ser1148=) c.3410C= (p.Ser1137=) c.3353C= (p.Ser1118=) c.3452C= (p.Ser1151=) c.3428C= (p.Ser1143=) c.3263C= (p.Ser1088=) | |
| 1 | g.16986124G>T | CA338231253 | ATP13A2 | c.*97C>A (n.*97C>A) c.3338C>A (p.Ser1113Tyr) n.1686C>A c.1058C>A (p.Ser353Tyr) c.3470C>A (p.Ser1157Tyr) c.3467C>A (p.Ser1156Tyr) c.3455C>A (p.Ser1152Tyr) c.3443C>A (p.Ser1148Tyr) c.3410C>A (p.Ser1137Tyr) c.3353C>A (p.Ser1118Tyr) c.3452C>A (p.Ser1151Tyr) c.3428C>A (p.Ser1143Tyr) c.3263C>A (p.Ser1088Tyr) | gnomAD v4 |
| 1 | g.16986125A>C | CA338231257 | ATP13A2 | c.*96T>G (n.*96T>G) c.3337T>G (p.Ser1113Ala) n.1685T>G c.1057T>G (p.Ser353Ala) c.3469T>G (p.Ser1157Ala) c.3466T>G (p.Ser1156Ala) c.3454T>G (p.Ser1152Ala) c.3442T>G (p.Ser1148Ala) c.3409T>G (p.Ser1137Ala) c.3352T>G (p.Ser1118Ala) c.3451T>G (p.Ser1151Ala) c.3427T>G (p.Ser1143Ala) c.3262T>G (p.Ser1088Ala) | |
| 1 | g.16986125A>G | CA338231259 | ATP13A2 | c.*96T>C (n.*96T>C) c.3337T>C (p.Ser1113Pro) n.1685T>C c.1057T>C (p.Ser353Pro) c.3469T>C (p.Ser1157Pro) c.3466T>C (p.Ser1156Pro) c.3454T>C (p.Ser1152Pro) c.3442T>C (p.Ser1148Pro) c.3409T>C (p.Ser1137Pro) c.3352T>C (p.Ser1118Pro) c.3451T>C (p.Ser1151Pro) c.3427T>C (p.Ser1143Pro) c.3262T>C (p.Ser1088Pro) | |
| 1 | g.16986125A>T | CA338231262 | ATP13A2 | c.*96T>A (n.*96T>A) c.3337T>A (p.Ser1113Thr) n.1685T>A c.1057T>A (p.Ser353Thr) c.3469T>A (p.Ser1157Thr) c.3466T>A (p.Ser1156Thr) c.3454T>A (p.Ser1152Thr) c.3442T>A (p.Ser1148Thr) c.3409T>A (p.Ser1137Thr) c.3352T>A (p.Ser1118Thr) c.3451T>A (p.Ser1151Thr) c.3427T>A (p.Ser1143Thr) c.3262T>A (p.Ser1088Thr) | |
| 1 | g.16986126T>C | CA636433 | ATP13A2 | c.*95A>G (n.*95A>G) c.3336A>G (p.Thr1112=) n.1684A>G c.1056A>G (p.Thr352=) c.3468A>G (p.Thr1156=) c.3465A>G (p.Thr1155=) c.3453A>G (p.Thr1151=) c.3441A>G (p.Thr1147=) c.3408A>G (p.Thr1136=) c.3351A>G (p.Thr1117=) c.3450A>G (p.Thr1150=) c.3426A>G (p.Thr1142=) c.3261A>G (p.Thr1087=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.16986126T>G | CA2742638025 | ATP13A2 | c.*95A>C (n.*95A>C) c.3336A>C (p.Thr1112=) n.1684A>C c.1056A>C (p.Thr352=) c.3468A>C (p.Thr1156=) c.3465A>C (p.Thr1155=) c.3453A>C (p.Thr1151=) c.3441A>C (p.Thr1147=) c.3408A>C (p.Thr1136=) c.3351A>C (p.Thr1117=) c.3450A>C (p.Thr1150=) c.3426A>C (p.Thr1142=) c.3261A>C (p.Thr1087=) | |
| 1 | g.16986126T= | CA1148877532 | ATP13A2 | c.*95A= (n.*95A=) c.3336A= (p.Thr1112=) n.1684A= c.1056A= (p.Thr352=) c.3468A= (p.Thr1156=) c.3465A= (p.Thr1155=) c.3453A= (p.Thr1151=) c.3441A= (p.Thr1147=) c.3408A= (p.Thr1136=) c.3351A= (p.Thr1117=) c.3450A= (p.Thr1150=) c.3426A= (p.Thr1142=) c.3261A= (p.Thr1087=) | |
| 1 | g.16986127G>A | CA338231276 | ATP13A2 | c.*94C>T (n.*94C>T) c.3335C>T (p.Thr1112Ile) n.1683C>T c.1055C>T (p.Thr352Ile) c.3467C>T (p.Thr1156Ile) c.3464C>T (p.Thr1155Ile) c.3452C>T (p.Thr1151Ile) c.3440C>T (p.Thr1147Ile) c.3407C>T (p.Thr1136Ile) c.3350C>T (p.Thr1117Ile) c.3449C>T (p.Thr1150Ile) c.3425C>T (p.Thr1142Ile) c.3260C>T (p.Thr1087Ile) | |
| 1 | g.16986127G>C | CA338231274 | ATP13A2 | c.*94C>G (n.*94C>G) c.3335C>G (p.Thr1112Arg) n.1683C>G c.1055C>G (p.Thr352Arg) c.3467C>G (p.Thr1156Arg) c.3464C>G (p.Thr1155Arg) c.3452C>G (p.Thr1151Arg) c.3440C>G (p.Thr1147Arg) c.3407C>G (p.Thr1136Arg) c.3350C>G (p.Thr1117Arg) c.3449C>G (p.Thr1150Arg) c.3425C>G (p.Thr1142Arg) c.3260C>G (p.Thr1087Arg) | |
| 1 | g.16986127G>T | CA338231269 | ATP13A2 | c.*94C>A (n.*94C>A) c.3335C>A (p.Thr1112Lys) n.1683C>A c.1055C>A (p.Thr352Lys) c.3467C>A (p.Thr1156Lys) c.3464C>A (p.Thr1155Lys) c.3452C>A (p.Thr1151Lys) c.3440C>A (p.Thr1147Lys) c.3407C>A (p.Thr1136Lys) c.3350C>A (p.Thr1117Lys) c.3449C>A (p.Thr1150Lys) c.3425C>A (p.Thr1142Lys) c.3260C>A (p.Thr1087Lys) | |
| 1 | g.16986128T>A | CA338231278 | ATP13A2 | c.*93A>T (n.*93A>T) c.3334A>T (p.Thr1112Ser) n.1682A>T c.1054A>T (p.Thr352Ser) c.3466A>T (p.Thr1156Ser) c.3463A>T (p.Thr1155Ser) c.3451A>T (p.Thr1151Ser) c.3439A>T (p.Thr1147Ser) c.3406A>T (p.Thr1136Ser) c.3349A>T (p.Thr1117Ser) c.3448A>T (p.Thr1150Ser) c.3424A>T (p.Thr1142Ser) c.3259A>T (p.Thr1087Ser) | |
| 1 | g.16986128T>C | CA338231280 | ATP13A2 | c.*93A>G (n.*93A>G) c.3334A>G (p.Thr1112Ala) n.1682A>G c.1054A>G (p.Thr352Ala) c.3466A>G (p.Thr1156Ala) c.3463A>G (p.Thr1155Ala) c.3451A>G (p.Thr1151Ala) c.3439A>G (p.Thr1147Ala) c.3406A>G (p.Thr1136Ala) c.3349A>G (p.Thr1117Ala) c.3448A>G (p.Thr1150Ala) c.3424A>G (p.Thr1142Ala) c.3259A>G (p.Thr1087Ala) | |
| 1 | g.16986128T>G | CA338231282 | ATP13A2 | c.*93A>C (n.*93A>C) c.3334A>C (p.Thr1112Pro) n.1682A>C c.1054A>C (p.Thr352Pro) c.3466A>C (p.Thr1156Pro) c.3463A>C (p.Thr1155Pro) c.3451A>C (p.Thr1151Pro) c.3439A>C (p.Thr1147Pro) c.3406A>C (p.Thr1136Pro) c.3349A>C (p.Thr1117Pro) c.3448A>C (p.Thr1150Pro) c.3424A>C (p.Thr1142Pro) c.3259A>C (p.Thr1087Pro) | |
| 1 | g.16986129G>A | CA521449593 | ATP13A2 | c.*92C>T (n.*92C>T) c.3333C>T (p.Pro1111=) n.1681C>T c.1053C>T (p.Pro351=) c.3465C>T (p.Pro1155=) c.3462C>T (p.Pro1154=) c.3450C>T (p.Pro1150=) c.3438C>T (p.Pro1146=) c.3405C>T (p.Pro1135=) c.3348C>T (p.Pro1116=) c.3447C>T (p.Pro1149=) c.3423C>T (p.Pro1141=) c.3258C>T (p.Pro1086=) | dbSNP gnomAD v2 |
| 1 | g.16986129G= | CA1156048902 | ATP13A2 | c.*92C= (n.*92C=) c.3333C= (p.Pro1111=) n.1681C= c.1053C= (p.Pro351=) c.3465C= (p.Pro1155=) c.3462C= (p.Pro1154=) c.3450C= (p.Pro1150=) c.3438C= (p.Pro1146=) c.3405C= (p.Pro1135=) c.3348C= (p.Pro1116=) c.3447C= (p.Pro1149=) c.3423C= (p.Pro1141=) c.3258C= (p.Pro1086=) | |
| 1 | g.16986129G>T | CA2742638028 | ATP13A2 | c.*92C>A (n.*92C>A) c.3333C>A (p.Pro1111=) n.1681C>A c.1053C>A (p.Pro351=) c.3465C>A (p.Pro1155=) c.3462C>A (p.Pro1154=) c.3450C>A (p.Pro1150=) c.3438C>A (p.Pro1146=) c.3405C>A (p.Pro1135=) c.3348C>A (p.Pro1116=) c.3447C>A (p.Pro1149=) c.3423C>A (p.Pro1141=) c.3258C>A (p.Pro1086=) | |
| 1 | g.16986130G>A | CA338231284 | ATP13A2 | c.*91C>T (n.*91C>T) c.3332C>T (p.Pro1111Leu) n.1680C>T c.1052C>T (p.Pro351Leu) c.3464C>T (p.Pro1155Leu) c.3461C>T (p.Pro1154Leu) c.3449C>T (p.Pro1150Leu) c.3437C>T (p.Pro1146Leu) c.3404C>T (p.Pro1135Leu) c.3347C>T (p.Pro1116Leu) c.3446C>T (p.Pro1149Leu) c.3422C>T (p.Pro1141Leu) c.3257C>T (p.Pro1086Leu) | gnomAD v4 |
| 1 | g.16986130G>C | CA338231286 | ATP13A2 | c.*91C>G (n.*91C>G) c.3332C>G (p.Pro1111Arg) n.1680C>G c.1052C>G (p.Pro351Arg) c.3464C>G (p.Pro1155Arg) c.3461C>G (p.Pro1154Arg) c.3449C>G (p.Pro1150Arg) c.3437C>G (p.Pro1146Arg) c.3404C>G (p.Pro1135Arg) c.3347C>G (p.Pro1116Arg) c.3446C>G (p.Pro1149Arg) c.3422C>G (p.Pro1141Arg) c.3257C>G (p.Pro1086Arg) | gnomAD v4 |
| 1 | g.16986130G>T | CA338231292 | ATP13A2 | c.*91C>A (n.*91C>A) c.3332C>A (p.Pro1111His) n.1680C>A c.1052C>A (p.Pro351His) c.3464C>A (p.Pro1155His) c.3461C>A (p.Pro1154His) c.3449C>A (p.Pro1150His) c.3437C>A (p.Pro1146His) c.3404C>A (p.Pro1135His) c.3347C>A (p.Pro1116His) c.3446C>A (p.Pro1149His) c.3422C>A (p.Pro1141His) c.3257C>A (p.Pro1086His) | |
| 1 | g.16986131G>A | CA338231294 | ATP13A2 | c.*90C>T (n.*90C>T) c.3331C>T (p.Pro1111Ser) n.1679C>T c.1051C>T (p.Pro351Ser) c.3463C>T (p.Pro1155Ser) c.3460C>T (p.Pro1154Ser) c.3448C>T (p.Pro1150Ser) c.3436C>T (p.Pro1146Ser) c.3403C>T (p.Pro1135Ser) c.3346C>T (p.Pro1116Ser) c.3445C>T (p.Pro1149Ser) c.3421C>T (p.Pro1141Ser) c.3256C>T (p.Pro1086Ser) | |
| 1 | g.16986131G>C | CA338231296 | ATP13A2 | c.*90C>G (n.*90C>G) c.3331C>G (p.Pro1111Ala) n.1679C>G c.1051C>G (p.Pro351Ala) c.3463C>G (p.Pro1155Ala) c.3460C>G (p.Pro1154Ala) c.3448C>G (p.Pro1150Ala) c.3436C>G (p.Pro1146Ala) c.3403C>G (p.Pro1135Ala) c.3346C>G (p.Pro1116Ala) c.3445C>G (p.Pro1149Ala) c.3421C>G (p.Pro1141Ala) c.3256C>G (p.Pro1086Ala) | |
| 1 | g.16986131G>T | CA338231300 | ATP13A2 | c.*90C>A (n.*90C>A) c.3331C>A (p.Pro1111Thr) n.1679C>A c.1051C>A (p.Pro351Thr) c.3463C>A (p.Pro1155Thr) c.3460C>A (p.Pro1154Thr) c.3448C>A (p.Pro1150Thr) c.3436C>A (p.Pro1146Thr) c.3403C>A (p.Pro1135Thr) c.3346C>A (p.Pro1116Thr) c.3445C>A (p.Pro1149Thr) c.3421C>A (p.Pro1141Thr) c.3256C>A (p.Pro1086Thr) | |
| 1 | g.16986133G>A | CA18624441 | ATP13A2 | c.*88C>T (n.*88C>T) c.3329C>T (p.Pro1110Leu) n.1677C>T c.1049C>T (p.Pro350Leu) c.3461C>T (p.Pro1154Leu) c.3458C>T (p.Pro1153Leu) c.3446C>T (p.Pro1149Leu) c.3434C>T (p.Pro1145Leu) c.3401C>T (p.Pro1134Leu) c.3344C>T (p.Pro1115Leu) c.3443C>T (p.Pro1148Leu) c.3419C>T (p.Pro1140Leu) c.3254C>T (p.Pro1085Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16986133G>C | CA338231304 | ATP13A2 | c.*88C>G (n.*88C>G) c.3329C>G (p.Pro1110Arg) n.1677C>G c.1049C>G (p.Pro350Arg) c.3461C>G (p.Pro1154Arg) c.3458C>G (p.Pro1153Arg) c.3446C>G (p.Pro1149Arg) c.3434C>G (p.Pro1145Arg) c.3401C>G (p.Pro1134Arg) c.3344C>G (p.Pro1115Arg) c.3443C>G (p.Pro1148Arg) c.3419C>G (p.Pro1140Arg) c.3254C>G (p.Pro1085Arg) | |
| 1 | g.16986133G= | CA1156048903 | ATP13A2 | c.*88C= (n.*88C=) c.3329C= (p.Pro1110=) n.1677C= c.1049C= (p.Pro350=) c.3461C= (p.Pro1154=) c.3458C= (p.Pro1153=) c.3446C= (p.Pro1149=) c.3434C= (p.Pro1145=) c.3401C= (p.Pro1134=) c.3344C= (p.Pro1115=) c.3443C= (p.Pro1148=) c.3419C= (p.Pro1140=) c.3254C= (p.Pro1085=) | |
| 1 | g.16986133G>T | CA338231305 | ATP13A2 | c.*88C>A (n.*88C>A) c.3329C>A (p.Pro1110His) n.1677C>A c.1049C>A (p.Pro350His) c.3461C>A (p.Pro1154His) c.3458C>A (p.Pro1153His) c.3446C>A (p.Pro1149His) c.3434C>A (p.Pro1145His) c.3401C>A (p.Pro1134His) c.3344C>A (p.Pro1115His) c.3443C>A (p.Pro1148His) c.3419C>A (p.Pro1140His) c.3254C>A (p.Pro1085His) | gnomAD v4 |
| 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.16986134G>A | CA338231310 | ATP13A2 | c.*87C>T (n.*87C>T) c.3328C>T (p.Pro1110Ser) n.1676C>T c.1048C>T (p.Pro350Ser) c.3460C>T (p.Pro1154Ser) c.3457C>T (p.Pro1153Ser) c.3445C>T (p.Pro1149Ser) c.3433C>T (p.Pro1145Ser) c.3400C>T (p.Pro1134Ser) c.3343C>T (p.Pro1115Ser) c.3442C>T (p.Pro1148Ser) c.3418C>T (p.Pro1140Ser) c.3253C>T (p.Pro1085Ser) | gnomAD v4 |
| 1 | g.16986134G>C | CA338231307 | ATP13A2 | c.*87C>G (n.*87C>G) c.3328C>G (p.Pro1110Ala) n.1676C>G c.1048C>G (p.Pro350Ala) c.3460C>G (p.Pro1154Ala) c.3457C>G (p.Pro1153Ala) c.3445C>G (p.Pro1149Ala) c.3433C>G (p.Pro1145Ala) c.3400C>G (p.Pro1134Ala) c.3343C>G (p.Pro1115Ala) c.3442C>G (p.Pro1148Ala) c.3418C>G (p.Pro1140Ala) c.3253C>G (p.Pro1085Ala) | |
| 1 | g.16986134G= | CA1156048905 | ATP13A2 | c.*87C= (n.*87C=) c.3328C= (p.Pro1110=) n.1676C= c.1048C= (p.Pro350=) c.3460C= (p.Pro1154=) c.3457C= (p.Pro1153=) c.3445C= (p.Pro1149=) c.3433C= (p.Pro1145=) c.3400C= (p.Pro1134=) c.3343C= (p.Pro1115=) c.3442C= (p.Pro1148=) c.3418C= (p.Pro1140=) c.3253C= (p.Pro1085=) | |
| 1 | g.16986134G>T | CA338231306 | ATP13A2 | c.*87C>A (n.*87C>A) c.3328C>A (p.Pro1110Thr) n.1676C>A c.1048C>A (p.Pro350Thr) c.3460C>A (p.Pro1154Thr) c.3457C>A (p.Pro1153Thr) c.3445C>A (p.Pro1149Thr) c.3433C>A (p.Pro1145Thr) c.3400C>A (p.Pro1134Thr) c.3343C>A (p.Pro1115Thr) c.3442C>A (p.Pro1148Thr) c.3418C>A (p.Pro1140Thr) c.3253C>A (p.Pro1085Thr) | dbSNP gnomAD v3 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 |
| 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 |
| 1 | g.16986167G>C | CA338231485 | ATP13A2 | c.*54C>G (n.*54C>G) c.3295C>G (p.Leu1099Val) n.1643C>G c.1015C>G (p.Leu339Val) c.3427C>G (p.Leu1143Val) c.3424C>G (p.Leu1142Val) c.3412C>G (p.Leu1138Val) c.3400C>G (p.Leu1134Val) c.3367C>G (p.Leu1123Val) c.3310C>G (p.Leu1104Val) c.3409C>G (p.Leu1137Val) c.3385C>G (p.Leu1129Val) c.3220C>G (p.Leu1074Val) | gnomAD v4 |
| 1 | g.16986167G>T | CA338231487 | ATP13A2 | c.*54C>A (n.*54C>A) c.3295C>A (p.Leu1099Met) n.1643C>A c.1015C>A (p.Leu339Met) c.3427C>A (p.Leu1143Met) c.3424C>A (p.Leu1142Met) c.3412C>A (p.Leu1138Met) c.3400C>A (p.Leu1134Met) c.3367C>A (p.Leu1123Met) c.3310C>A (p.Leu1104Met) c.3409C>A (p.Leu1137Met) c.3385C>A (p.Leu1129Met) c.3220C>A (p.Leu1074Met) | |
| 1 | g.16986168T>A | CA338231488 | ATP13A2 | c.*53A>T (n.*53A>T) c.3294A>T (p.Gln1098His) n.1642A>T c.1014A>T (p.Gln338His) c.3426A>T (p.Gln1142His) c.3423A>T (p.Gln1141His) c.3411A>T (p.Gln1137His) c.3399A>T (p.Gln1133His) c.3366A>T (p.Gln1122His) c.3309A>T (p.Gln1103His) c.3408A>T (p.Gln1136His) c.3384A>T (p.Gln1128His) c.3219A>T (p.Gln1073His) | |
| 1 | g.16986168T>C | CA1156049008 | ATP13A2 | c.*53A>G (n.*53A>G) c.3294A>G (p.Gln1098=) n.1642A>G c.1014A>G (p.Gln338=) c.3426A>G (p.Gln1142=) c.3423A>G (p.Gln1141=) c.3411A>G (p.Gln1137=) c.3399A>G (p.Gln1133=) c.3366A>G (p.Gln1122=) c.3309A>G (p.Gln1103=) c.3408A>G (p.Gln1136=) c.3384A>G (p.Gln1128=) c.3219A>G (p.Gln1073=) | dbSNP gnomAD v4 |
| 1 | g.16986168T>G | CA338231490 | ATP13A2 | c.*53A>C (n.*53A>C) c.3294A>C (p.Gln1098His) n.1642A>C c.1014A>C (p.Gln338His) c.3426A>C (p.Gln1142His) c.3423A>C (p.Gln1141His) c.3411A>C (p.Gln1137His) c.3399A>C (p.Gln1133His) c.3366A>C (p.Gln1122His) c.3309A>C (p.Gln1103His) c.3408A>C (p.Gln1136His) c.3384A>C (p.Gln1128His) c.3219A>C (p.Gln1073His) | |
| 1 | g.16986168T= | CA1156049007 | ATP13A2 | c.*53A= (n.*53A=) c.3294A= (p.Gln1098=) n.1642A= c.1014A= (p.Gln338=) c.3426A= (p.Gln1142=) c.3423A= (p.Gln1141=) c.3411A= (p.Gln1137=) c.3399A= (p.Gln1133=) c.3366A= (p.Gln1122=) c.3309A= (p.Gln1103=) c.3408A= (p.Gln1136=) c.3384A= (p.Gln1128=) c.3219A= (p.Gln1073=) | |
| 1 | g.16986169T>A | CA338231493 | ATP13A2 | c.*52A>T (n.*52A>T) c.3293A>T (p.Gln1098Leu) n.1641A>T c.1013A>T (p.Gln338Leu) c.3425A>T (p.Gln1142Leu) c.3422A>T (p.Gln1141Leu) c.3410A>T (p.Gln1137Leu) c.3398A>T (p.Gln1133Leu) c.3365A>T (p.Gln1122Leu) c.3308A>T (p.Gln1103Leu) c.3407A>T (p.Gln1136Leu) c.3383A>T (p.Gln1128Leu) c.3218A>T (p.Gln1073Leu) | |
| 1 | g.16986169T>C | CA338231496 | ATP13A2 | c.*52A>G (n.*52A>G) c.3293A>G (p.Gln1098Arg) n.1641A>G c.1013A>G (p.Gln338Arg) c.3425A>G (p.Gln1142Arg) c.3422A>G (p.Gln1141Arg) c.3410A>G (p.Gln1137Arg) c.3398A>G (p.Gln1133Arg) c.3365A>G (p.Gln1122Arg) c.3308A>G (p.Gln1103Arg) c.3407A>G (p.Gln1136Arg) c.3383A>G (p.Gln1128Arg) c.3218A>G (p.Gln1073Arg) | dbSNP |
| 1 | g.16986169T>G | CA338231498 | ATP13A2 | c.*52A>C (n.*52A>C) c.3293A>C (p.Gln1098Pro) n.1641A>C c.1013A>C (p.Gln338Pro) c.3425A>C (p.Gln1142Pro) c.3422A>C (p.Gln1141Pro) c.3410A>C (p.Gln1137Pro) c.3398A>C (p.Gln1133Pro) c.3365A>C (p.Gln1122Pro) c.3308A>C (p.Gln1103Pro) c.3407A>C (p.Gln1136Pro) c.3383A>C (p.Gln1128Pro) c.3218A>C (p.Gln1073Pro) | gnomAD v4 |
| 1 | g.16986169T= | CA1156049011 | ATP13A2 | c.*52A= (n.*52A=) c.3293A= (p.Gln1098=) n.1641A= c.1013A= (p.Gln338=) c.3425A= (p.Gln1142=) c.3422A= (p.Gln1141=) c.3410A= (p.Gln1137=) c.3398A= (p.Gln1133=) c.3365A= (p.Gln1122=) c.3308A= (p.Gln1103=) c.3407A= (p.Gln1136=) c.3383A= (p.Gln1128=) c.3218A= (p.Gln1073=) | |
| 1 | g.16986172_16986174dup | CA1156049012 | ATP13A2 | c.*50_*52dup (n.*50_*52dup) c.3291_3293dup (p.His1097_Gln1098insHis) n.1639_1641dup c.1011_1013dup (p.His337_Gln338insHis) c.3423_3425dup (p.His1141_Gln1142insHis) c.3420_3422dup (p.His1140_Gln1141insHis) c.3408_3410dup (p.His1136_Gln1137insHis) c.3396_3398dup (p.His1132_Gln1133insHis) c.3363_3365dup (p.His1121_Gln1122insHis) c.3306_3308dup (p.His1102_Gln1103insHis) c.3405_3407dup (p.His1135_Gln1136insHis) c.3381_3383dup (p.His1127_Gln1128insHis) c.3216_3218dup (p.His1072_Gln1073insHis) | dbSNP |
| 1 | g.16986170G>A | CA338231500 | ATP13A2 | c.*51C>T (n.*51C>T) c.3292C>T (p.Gln1098Ter) n.1640C>T c.1012C>T (p.Gln338Ter) c.3424C>T (p.Gln1142Ter) c.3421C>T (p.Gln1141Ter) c.3409C>T (p.Gln1137Ter) c.3397C>T (p.Gln1133Ter) c.3364C>T (p.Gln1122Ter) c.3307C>T (p.Gln1103Ter) c.3406C>T (p.Gln1136Ter) c.3382C>T (p.Gln1128Ter) c.3217C>T (p.Gln1073Ter) | |
| 1 | g.16986170G>C | CA338231502 | ATP13A2 | c.*51C>G (n.*51C>G) c.3292C>G (p.Gln1098Glu) n.1640C>G c.1012C>G (p.Gln338Glu) c.3424C>G (p.Gln1142Glu) c.3421C>G (p.Gln1141Glu) c.3409C>G (p.Gln1137Glu) c.3397C>G (p.Gln1133Glu) c.3364C>G (p.Gln1122Glu) c.3307C>G (p.Gln1103Glu) c.3406C>G (p.Gln1136Glu) c.3382C>G (p.Gln1128Glu) c.3217C>G (p.Gln1073Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.16986170G= | CA1156049013 | ATP13A2 | c.*51C= (n.*51C=) c.3292C= (p.Gln1098=) n.1640C= c.1012C= (p.Gln338=) c.3424C= (p.Gln1142=) c.3421C= (p.Gln1141=) c.3409C= (p.Gln1137=) c.3397C= (p.Gln1133=) c.3364C= (p.Gln1122=) c.3307C= (p.Gln1103=) c.3406C= (p.Gln1136=) c.3382C= (p.Gln1128=) c.3217C= (p.Gln1073=) | |
| 1 | g.16986170G>T | CA338231503 | ATP13A2 | c.*51C>A (n.*51C>A) c.3292C>A (p.Gln1098Lys) n.1640C>A c.1012C>A (p.Gln338Lys) c.3424C>A (p.Gln1142Lys) c.3421C>A (p.Gln1141Lys) c.3409C>A (p.Gln1137Lys) c.3397C>A (p.Gln1133Lys) c.3364C>A (p.Gln1122Lys) c.3307C>A (p.Gln1103Lys) c.3406C>A (p.Gln1136Lys) c.3382C>A (p.Gln1128Lys) c.3217C>A (p.Gln1073Lys) | |
| 1 | g.16986171G>A | CA521449604 | ATP13A2 | c.*50C>T (n.*50C>T) c.3291C>T (p.His1097=) n.1639C>T c.1011C>T (p.His337=) c.3423C>T (p.His1141=) c.3420C>T (p.His1140=) c.3408C>T (p.His1136=) c.3396C>T (p.His1132=) c.3363C>T (p.His1121=) c.3306C>T (p.His1102=) c.3405C>T (p.His1135=) c.3381C>T (p.His1127=) c.3216C>T (p.His1072=) | dbSNP gnomAD v2 |
| 1 | g.16986171G>C | CA338231505 | ATP13A2 | c.*50C>G (n.*50C>G) c.3291C>G (p.His1097Gln) n.1639C>G c.1011C>G (p.His337Gln) c.3423C>G (p.His1141Gln) c.3420C>G (p.His1140Gln) c.3408C>G (p.His1136Gln) c.3396C>G (p.His1132Gln) c.3363C>G (p.His1121Gln) c.3306C>G (p.His1102Gln) c.3405C>G (p.His1135Gln) c.3381C>G (p.His1127Gln) c.3216C>G (p.His1072Gln) | |
| 1 | g.16986171G= | CA1156049016 | ATP13A2 | c.*50C= (n.*50C=) c.3291C= (p.His1097=) n.1639C= c.1011C= (p.His337=) c.3423C= (p.His1141=) c.3420C= (p.His1140=) c.3408C= (p.His1136=) c.3396C= (p.His1132=) c.3363C= (p.His1121=) c.3306C= (p.His1102=) c.3405C= (p.His1135=) c.3381C= (p.His1127=) c.3216C= (p.His1072=) | |
| 1 | g.16986171G>T | CA338231504 | ATP13A2 | c.*50C>A (n.*50C>A) c.3291C>A (p.His1097Gln) n.1639C>A c.1011C>A (p.His337Gln) c.3423C>A (p.His1141Gln) c.3420C>A (p.His1140Gln) c.3408C>A (p.His1136Gln) c.3396C>A (p.His1132Gln) c.3363C>A (p.His1121Gln) c.3306C>A (p.His1102Gln) c.3405C>A (p.His1135Gln) c.3381C>A (p.His1127Gln) c.3216C>A (p.His1072Gln) | gnomAD v4 |
| 1 | g.16986172T>A | CA338231506 | ATP13A2 | c.*49A>T (n.*49A>T) c.3290A>T (p.His1097Leu) n.1638A>T c.1010A>T (p.His337Leu) c.3422A>T (p.His1141Leu) c.3419A>T (p.His1140Leu) c.3407A>T (p.His1136Leu) c.3395A>T (p.His1132Leu) c.3362A>T (p.His1121Leu) c.3305A>T (p.His1102Leu) c.3404A>T (p.His1135Leu) c.3380A>T (p.His1127Leu) c.3215A>T (p.His1072Leu) | |
| 1 | g.16986172T>C | CA18624483 | ATP13A2 | c.*49A>G (n.*49A>G) c.3290A>G (p.His1097Arg) n.1638A>G c.1010A>G (p.His337Arg) c.3422A>G (p.His1141Arg) c.3419A>G (p.His1140Arg) c.3407A>G (p.His1136Arg) c.3395A>G (p.His1132Arg) c.3362A>G (p.His1121Arg) c.3305A>G (p.His1102Arg) c.3404A>G (p.His1135Arg) c.3380A>G (p.His1127Arg) c.3215A>G (p.His1072Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16986172T>G | CA338231509 | ATP13A2 | c.*49A>C (n.*49A>C) c.3290A>C (p.His1097Pro) n.1638A>C c.1010A>C (p.His337Pro) c.3422A>C (p.His1141Pro) c.3419A>C (p.His1140Pro) c.3407A>C (p.His1136Pro) c.3395A>C (p.His1132Pro) c.3362A>C (p.His1121Pro) c.3305A>C (p.His1102Pro) c.3404A>C (p.His1135Pro) c.3380A>C (p.His1127Pro) c.3215A>C (p.His1072Pro) | |
| 1 | g.16986172T= | CA1147734515 | ATP13A2 | c.*49A= (n.*49A=) c.3290A= (p.His1097=) n.1638A= c.1010A= (p.His337=) c.3422A= (p.His1141=) c.3419A= (p.His1140=) c.3407A= (p.His1136=) c.3395A= (p.His1132=) c.3362A= (p.His1121=) c.3305A= (p.His1102=) c.3404A= (p.His1135=) c.3380A= (p.His1127=) c.3215A= (p.His1072=) |