Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.16986833C>A | CA18625640 | ATP13A2 | c.3207G>T (p.Ala1069=) c.3075G>T (p.Ala1025=) c.3192G>T (p.Ala1064=) n.1081G>T c.795G>T (p.Ala265=) c.3204G>T (p.Ala1068=) c.3180G>T (p.Ala1060=) c.3147G>T (p.Ala1049=) c.3090G>T (p.Ala1030=) c.3189G>T (p.Ala1063=) c.3165G>T (p.Ala1055=) c.3000G>T (p.Ala1000=) c.3162G>T (p.Ala1054=) | ClinVar dbSNP gnomAD v4 |
1 | g.16986833C= | CA1141581613 | ATP13A2 | c.3207G= (p.Ala1069=) c.3075G= (p.Ala1025=) c.3192G= (p.Ala1064=) n.1081G= c.795G= (p.Ala265=) c.3204G= (p.Ala1068=) c.3180G= (p.Ala1060=) c.3147G= (p.Ala1049=) c.3090G= (p.Ala1030=) c.3189G= (p.Ala1063=) c.3165G= (p.Ala1055=) c.3000G= (p.Ala1000=) c.3162G= (p.Ala1054=) | |
1 | g.16986833C>G | CA416093570 | ATP13A2 | c.3207G>C (p.Ala1069=) c.3075G>C (p.Ala1025=) c.3192G>C (p.Ala1064=) n.1081G>C c.795G>C (p.Ala265=) c.3204G>C (p.Ala1068=) c.3180G>C (p.Ala1060=) c.3147G>C (p.Ala1049=) c.3090G>C (p.Ala1030=) c.3189G>C (p.Ala1063=) c.3165G>C (p.Ala1055=) c.3000G>C (p.Ala1000=) c.3162G>C (p.Ala1054=) | |
1 | g.16986833C>T | CA636579 | ATP13A2 | c.3207G>A (p.Ala1069=) c.3075G>A (p.Ala1025=) c.3192G>A (p.Ala1064=) n.1081G>A c.795G>A (p.Ala265=) c.3204G>A (p.Ala1068=) c.3180G>A (p.Ala1060=) c.3147G>A (p.Ala1049=) c.3090G>A (p.Ala1030=) c.3189G>A (p.Ala1063=) c.3165G>A (p.Ala1055=) c.3000G>A (p.Ala1000=) c.3162G>A (p.Ala1054=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.16986834G>A | CA338233358 | ATP13A2 | c.3206C>T (p.Ala1069Val) c.3074C>T (p.Ala1025Val) c.3191C>T (p.Ala1064Val) n.1080C>T c.794C>T (p.Ala265Val) c.3203C>T (p.Ala1068Val) c.3179C>T (p.Ala1060Val) c.3146C>T (p.Ala1049Val) c.3089C>T (p.Ala1030Val) c.3188C>T (p.Ala1063Val) c.3164C>T (p.Ala1055Val) c.2999C>T (p.Ala1000Val) c.3161C>T (p.Ala1054Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.16986834G>C | CA18625642 | ATP13A2 | c.3206C>G (p.Ala1069Gly) c.3074C>G (p.Ala1025Gly) c.3191C>G (p.Ala1064Gly) n.1080C>G c.794C>G (p.Ala265Gly) c.3203C>G (p.Ala1068Gly) c.3179C>G (p.Ala1060Gly) c.3146C>G (p.Ala1049Gly) c.3089C>G (p.Ala1030Gly) c.3188C>G (p.Ala1063Gly) c.3164C>G (p.Ala1055Gly) c.2999C>G (p.Ala1000Gly) c.3161C>G (p.Ala1054Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16986834G= | CA1156050400 | ATP13A2 | c.3206C= (p.Ala1069=) c.3074C= (p.Ala1025=) c.3191C= (p.Ala1064=) n.1080C= c.794C= (p.Ala265=) c.3203C= (p.Ala1068=) c.3179C= (p.Ala1060=) c.3146C= (p.Ala1049=) c.3089C= (p.Ala1030=) c.3188C= (p.Ala1063=) c.3164C= (p.Ala1055=) c.2999C= (p.Ala1000=) c.3161C= (p.Ala1054=) | |
1 | g.16986834G>T | CA338233361 | ATP13A2 | c.3206C>A (p.Ala1069Glu) c.3074C>A (p.Ala1025Glu) c.3191C>A (p.Ala1064Glu) n.1080C>A c.794C>A (p.Ala265Glu) c.3203C>A (p.Ala1068Glu) c.3179C>A (p.Ala1060Glu) c.3146C>A (p.Ala1049Glu) c.3089C>A (p.Ala1030Glu) c.3188C>A (p.Ala1063Glu) c.3164C>A (p.Ala1055Glu) c.2999C>A (p.Ala1000Glu) c.3161C>A (p.Ala1054Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.16986835C>A | CA338233365 | ATP13A2 | c.3205G>T (p.Ala1069Ser) c.3073G>T (p.Ala1025Ser) c.3190G>T (p.Ala1064Ser) n.1079G>T c.793G>T (p.Ala265Ser) c.3202G>T (p.Ala1068Ser) c.3178G>T (p.Ala1060Ser) c.3145G>T (p.Ala1049Ser) c.3088G>T (p.Ala1030Ser) c.3187G>T (p.Ala1063Ser) c.3163G>T (p.Ala1055Ser) c.2998G>T (p.Ala1000Ser) c.3160G>T (p.Ala1054Ser) | |
1 | g.16986835C= | CA1156050406 | ATP13A2 | c.3205G= (p.Ala1069=) c.3073G= (p.Ala1025=) c.3190G= (p.Ala1064=) n.1079G= c.793G= (p.Ala265=) c.3202G= (p.Ala1068=) c.3178G= (p.Ala1060=) c.3145G= (p.Ala1049=) c.3088G= (p.Ala1030=) c.3187G= (p.Ala1063=) c.3163G= (p.Ala1055=) c.2998G= (p.Ala1000=) c.3160G= (p.Ala1054=) | |
1 | g.16986835C>G | CA338233364 | ATP13A2 | c.3205G>C (p.Ala1069Pro) c.3073G>C (p.Ala1025Pro) c.3190G>C (p.Ala1064Pro) n.1079G>C c.793G>C (p.Ala265Pro) c.3202G>C (p.Ala1068Pro) c.3178G>C (p.Ala1060Pro) c.3145G>C (p.Ala1049Pro) c.3088G>C (p.Ala1030Pro) c.3187G>C (p.Ala1063Pro) c.3163G>C (p.Ala1055Pro) c.2998G>C (p.Ala1000Pro) c.3160G>C (p.Ala1054Pro) | |
1 | g.16986835C>T | CA636580 | ATP13A2 | c.3205G>A (p.Ala1069Thr) c.3073G>A (p.Ala1025Thr) c.3190G>A (p.Ala1064Thr) n.1079G>A c.793G>A (p.Ala265Thr) c.3202G>A (p.Ala1068Thr) c.3178G>A (p.Ala1060Thr) c.3145G>A (p.Ala1049Thr) c.3088G>A (p.Ala1030Thr) c.3187G>A (p.Ala1063Thr) c.3163G>A (p.Ala1055Thr) c.2998G>A (p.Ala1000Thr) c.3160G>A (p.Ala1054Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16986839dup | CA2840346301 | ATP13A2 | c.3205dup (p.Ala1069GlyfsTer?) c.3073dup (p.Ala1025GlyfsTer11) c.3190dup (p.Ala1064GlyfsTer?) n.1079dup c.793dup (p.Ala265GlyfsTer11) c.3205dup (p.Ala1069GlyfsTer11) c.3202dup (p.Ala1068GlyfsTer11) c.3190dup (p.Ala1064GlyfsTer11) c.3178dup (p.Ala1060GlyfsTer11) c.3145dup (p.Ala1049GlyfsTer11) c.3088dup (p.Ala1030GlyfsTer11) c.3187dup (p.Ala1063GlyfsTer11) c.3163dup (p.Ala1055GlyfsTer11) c.2998dup (p.Ala1000GlyfsTer11) c.3187dup (p.Ala1063GlyfsTer?) c.3163dup (p.Ala1055GlyfsTer?) c.3160dup (p.Ala1054GlyfsTer?) c.3088dup (p.Ala1030GlyfsTer?) c.3073dup (p.Ala1025GlyfsTer?) c.2998dup (p.Ala1000GlyfsTer?) | |
1 | g.16986839del | CA2643671201 | ATP13A2 | c.3205del (p.Ala1069ArgfsTer20) c.3073del (p.Ala1025ArgfsTer?) c.3190del (p.Ala1064ArgfsTer20) n.1079del c.793del (p.Ala265ArgfsTer?) c.3205del (p.Ala1069ArgfsTer?) c.3202del (p.Ala1068ArgfsTer?) c.3190del (p.Ala1064ArgfsTer?) c.3178del (p.Ala1060ArgfsTer?) c.3145del (p.Ala1049ArgfsTer?) c.3088del (p.Ala1030ArgfsTer?) c.3187del (p.Ala1063ArgfsTer?) c.3163del (p.Ala1055ArgfsTer?) c.2998del (p.Ala1000ArgfsTer?) c.3187del (p.Ala1063ArgfsTer20) c.3163del (p.Ala1055ArgfsTer20) c.3160del (p.Ala1054ArgfsTer20) c.3088del (p.Ala1030ArgfsTer20) c.3073del (p.Ala1025ArgfsTer20) c.2998del (p.Ala1000ArgfsTer20) | gnomAD v4 |
1 | g.16986838_16986839del | CA2742638087 | ATP13A2 | c.3204_3205del (p.Pro1070LeufsTer?) c.3072_3073del (p.Pro1026LeufsTer9) c.3189_3190del (p.Pro1065LeufsTer?) n.1078_1079del c.792_793del (p.Pro266LeufsTer9) c.3204_3205del (p.Pro1070LeufsTer9) c.3201_3202del (p.Pro1069LeufsTer9) c.3189_3190del (p.Pro1065LeufsTer9) c.3177_3178del (p.Pro1061LeufsTer9) c.3144_3145del (p.Pro1050LeufsTer9) c.3087_3088del (p.Pro1031LeufsTer9) c.3186_3187del (p.Pro1064LeufsTer9) c.3162_3163del (p.Pro1056LeufsTer9) c.2997_2998del (p.Pro1001LeufsTer9) c.3186_3187del (p.Pro1064LeufsTer?) c.3162_3163del (p.Pro1056LeufsTer?) c.3159_3160del (p.Pro1055LeufsTer?) c.3087_3088del (p.Pro1031LeufsTer?) c.3072_3073del (p.Pro1026LeufsTer?) c.2997_2998del (p.Pro1001LeufsTer?) | |
1 | g.16986836C>A | CA416093571 | ATP13A2 | c.3204G>T (p.Gly1068=) c.3072G>T (p.Gly1024=) c.3189G>T (p.Gly1063=) n.1078G>T c.792G>T (p.Gly264=) c.3201G>T (p.Gly1067=) c.3177G>T (p.Gly1059=) c.3144G>T (p.Gly1048=) c.3087G>T (p.Gly1029=) c.3186G>T (p.Gly1062=) c.3162G>T (p.Gly1054=) c.2997G>T (p.Gly999=) c.3159G>T (p.Gly1053=) | |
1 | g.16986836C>G | CA416093572 | ATP13A2 | c.3204G>C (p.Gly1068=) c.3072G>C (p.Gly1024=) c.3189G>C (p.Gly1063=) n.1078G>C c.792G>C (p.Gly264=) c.3201G>C (p.Gly1067=) c.3177G>C (p.Gly1059=) c.3144G>C (p.Gly1048=) c.3087G>C (p.Gly1029=) c.3186G>C (p.Gly1062=) c.3162G>C (p.Gly1054=) c.2997G>C (p.Gly999=) c.3159G>C (p.Gly1053=) | |
1 | g.16986836C>T | CA416093573 | ATP13A2 | c.3204G>A (p.Gly1068=) c.3072G>A (p.Gly1024=) c.3189G>A (p.Gly1063=) n.1078G>A c.792G>A (p.Gly264=) c.3201G>A (p.Gly1067=) c.3177G>A (p.Gly1059=) c.3144G>A (p.Gly1048=) c.3087G>A (p.Gly1029=) c.3186G>A (p.Gly1062=) c.3162G>A (p.Gly1054=) c.2997G>A (p.Gly999=) c.3159G>A (p.Gly1053=) | |
1 | g.16986837C>A | CA338233367 | ATP13A2 | c.3203G>T (p.Gly1068Val) c.3071G>T (p.Gly1024Val) c.3188G>T (p.Gly1063Val) n.1077G>T c.791G>T (p.Gly264Val) c.3200G>T (p.Gly1067Val) c.3176G>T (p.Gly1059Val) c.3143G>T (p.Gly1048Val) c.3086G>T (p.Gly1029Val) c.3185G>T (p.Gly1062Val) c.3161G>T (p.Gly1054Val) c.2996G>T (p.Gly999Val) c.3158G>T (p.Gly1053Val) | dbSNP |
1 | g.16986837C= | CA1156050409 | ATP13A2 | c.3203G= (p.Gly1068=) c.3071G= (p.Gly1024=) c.3188G= (p.Gly1063=) n.1077G= c.791G= (p.Gly264=) c.3200G= (p.Gly1067=) c.3176G= (p.Gly1059=) c.3143G= (p.Gly1048=) c.3086G= (p.Gly1029=) c.3185G= (p.Gly1062=) c.3161G= (p.Gly1054=) c.2996G= (p.Gly999=) c.3158G= (p.Gly1053=) | |
1 | g.16986837C>G | CA338233368 | ATP13A2 | c.3203G>C (p.Gly1068Ala) c.3071G>C (p.Gly1024Ala) c.3188G>C (p.Gly1063Ala) n.1077G>C c.791G>C (p.Gly264Ala) c.3200G>C (p.Gly1067Ala) c.3176G>C (p.Gly1059Ala) c.3143G>C (p.Gly1048Ala) c.3086G>C (p.Gly1029Ala) c.3185G>C (p.Gly1062Ala) c.3161G>C (p.Gly1054Ala) c.2996G>C (p.Gly999Ala) c.3158G>C (p.Gly1053Ala) | |
1 | g.16986837C>T | CA338233371 | ATP13A2 | c.3203G>A (p.Gly1068Glu) c.3071G>A (p.Gly1024Glu) c.3188G>A (p.Gly1063Glu) n.1077G>A c.791G>A (p.Gly264Glu) c.3200G>A (p.Gly1067Glu) c.3176G>A (p.Gly1059Glu) c.3143G>A (p.Gly1048Glu) c.3086G>A (p.Gly1029Glu) c.3185G>A (p.Gly1062Glu) c.3161G>A (p.Gly1054Glu) c.2996G>A (p.Gly999Glu) c.3158G>A (p.Gly1053Glu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.16986837_16986842del | CA999085422 | ATP13A2 | c.3198_3203del (p.Lys1067_Gly1068del) c.3066_3071del (p.Lys1023_Gly1024del) c.3183_3188del (p.Lys1062_Gly1063del) n.1072_1077del c.786_791del (p.Lys263_Gly264del) c.3195_3200del (p.Lys1066_Gly1067del) c.3171_3176del (p.Lys1058_Gly1059del) c.3138_3143del (p.Lys1047_Gly1048del) c.3081_3086del (p.Lys1028_Gly1029del) c.3180_3185del (p.Lys1061_Gly1062del) c.3156_3161del (p.Lys1053_Gly1054del) c.2991_2996del (p.Lys998_Gly999del) c.3153_3158del (p.Lys1052_Gly1053del) | gnomAD v3 gnomAD v4 |
1 | g.16986838C>A | CA338233374 | ATP13A2 | c.3202G>T (p.Gly1068Trp) c.3070G>T (p.Gly1024Trp) c.3187G>T (p.Gly1063Trp) n.1076G>T c.790G>T (p.Gly264Trp) c.3199G>T (p.Gly1067Trp) c.3175G>T (p.Gly1059Trp) c.3142G>T (p.Gly1048Trp) c.3085G>T (p.Gly1029Trp) c.3184G>T (p.Gly1062Trp) c.3160G>T (p.Gly1054Trp) c.2995G>T (p.Gly999Trp) c.3157G>T (p.Gly1053Trp) | |
1 | g.16986838C= | CA1156050414 | ATP13A2 | c.3202G= (p.Gly1068=) c.3070G= (p.Gly1024=) c.3187G= (p.Gly1063=) n.1076G= c.790G= (p.Gly264=) c.3199G= (p.Gly1067=) c.3175G= (p.Gly1059=) c.3142G= (p.Gly1048=) c.3085G= (p.Gly1029=) c.3184G= (p.Gly1062=) c.3160G= (p.Gly1054=) c.2995G= (p.Gly999=) c.3157G= (p.Gly1053=) | |
1 | g.16986838C>G | CA338233376 | ATP13A2 | c.3202G>C (p.Gly1068Arg) c.3070G>C (p.Gly1024Arg) c.3187G>C (p.Gly1063Arg) n.1076G>C c.790G>C (p.Gly264Arg) c.3199G>C (p.Gly1067Arg) c.3175G>C (p.Gly1059Arg) c.3142G>C (p.Gly1048Arg) c.3085G>C (p.Gly1029Arg) c.3184G>C (p.Gly1062Arg) c.3160G>C (p.Gly1054Arg) c.2995G>C (p.Gly999Arg) c.3157G>C (p.Gly1053Arg) | dbSNP gnomAD v2 |
1 | g.16986838C>T | CA338233377 | ATP13A2 | c.3202G>A (p.Gly1068Arg) c.3070G>A (p.Gly1024Arg) c.3187G>A (p.Gly1063Arg) n.1076G>A c.790G>A (p.Gly264Arg) c.3199G>A (p.Gly1067Arg) c.3175G>A (p.Gly1059Arg) c.3142G>A (p.Gly1048Arg) c.3085G>A (p.Gly1029Arg) c.3184G>A (p.Gly1062Arg) c.3160G>A (p.Gly1054Arg) c.2995G>A (p.Gly999Arg) c.3157G>A (p.Gly1053Arg) | gnomAD v4 |
1 | g.16986839C>A | CA338233379 | ATP13A2 | c.3201G>T (p.Lys1067Asn) c.3069G>T (p.Lys1023Asn) c.3186G>T (p.Lys1062Asn) n.1075G>T c.789G>T (p.Lys263Asn) c.3198G>T (p.Lys1066Asn) c.3174G>T (p.Lys1058Asn) c.3141G>T (p.Lys1047Asn) c.3084G>T (p.Lys1028Asn) c.3183G>T (p.Lys1061Asn) c.3159G>T (p.Lys1053Asn) c.2994G>T (p.Lys998Asn) c.3156G>T (p.Lys1052Asn) | |
1 | g.16986839C>G | CA338233382 | ATP13A2 | c.3201G>C (p.Lys1067Asn) c.3069G>C (p.Lys1023Asn) c.3186G>C (p.Lys1062Asn) n.1075G>C c.789G>C (p.Lys263Asn) c.3198G>C (p.Lys1066Asn) c.3174G>C (p.Lys1058Asn) c.3141G>C (p.Lys1047Asn) c.3084G>C (p.Lys1028Asn) c.3183G>C (p.Lys1061Asn) c.3159G>C (p.Lys1053Asn) c.2994G>C (p.Lys998Asn) c.3156G>C (p.Lys1052Asn) | |
1 | g.16986839C>T | CA416093577 | ATP13A2 | c.3201G>A (p.Lys1067=) c.3069G>A (p.Lys1023=) c.3186G>A (p.Lys1062=) n.1075G>A c.789G>A (p.Lys263=) c.3198G>A (p.Lys1066=) c.3174G>A (p.Lys1058=) c.3141G>A (p.Lys1047=) c.3084G>A (p.Lys1028=) c.3183G>A (p.Lys1061=) c.3159G>A (p.Lys1053=) c.2994G>A (p.Lys998=) c.3156G>A (p.Lys1052=) | |
1 | g.16986840T>A | CA338233388 | ATP13A2 | c.3200A>T (p.Lys1067Met) c.3068A>T (p.Lys1023Met) c.3185A>T (p.Lys1062Met) n.1074A>T c.788A>T (p.Lys263Met) c.3197A>T (p.Lys1066Met) c.3173A>T (p.Lys1058Met) c.3140A>T (p.Lys1047Met) c.3083A>T (p.Lys1028Met) c.3182A>T (p.Lys1061Met) c.3158A>T (p.Lys1053Met) c.2993A>T (p.Lys998Met) c.3155A>T (p.Lys1052Met) | gnomAD v4 |
1 | g.16986840T>C | CA338233389 | ATP13A2 | c.3200A>G (p.Lys1067Arg) c.3068A>G (p.Lys1023Arg) c.3185A>G (p.Lys1062Arg) n.1074A>G c.788A>G (p.Lys263Arg) c.3197A>G (p.Lys1066Arg) c.3173A>G (p.Lys1058Arg) c.3140A>G (p.Lys1047Arg) c.3083A>G (p.Lys1028Arg) c.3182A>G (p.Lys1061Arg) c.3158A>G (p.Lys1053Arg) c.2993A>G (p.Lys998Arg) c.3155A>G (p.Lys1052Arg) | |
1 | g.16986840T>G | CA338233391 | ATP13A2 | c.3200A>C (p.Lys1067Thr) c.3068A>C (p.Lys1023Thr) c.3185A>C (p.Lys1062Thr) n.1074A>C c.788A>C (p.Lys263Thr) c.3197A>C (p.Lys1066Thr) c.3173A>C (p.Lys1058Thr) c.3140A>C (p.Lys1047Thr) c.3083A>C (p.Lys1028Thr) c.3182A>C (p.Lys1061Thr) c.3158A>C (p.Lys1053Thr) c.2993A>C (p.Lys998Thr) c.3155A>C (p.Lys1052Thr) | |
1 | g.16986841T>A | CA338233394 | ATP13A2 | c.3199A>T (p.Lys1067Ter) c.3067A>T (p.Lys1023Ter) c.3184A>T (p.Lys1062Ter) n.1073A>T c.787A>T (p.Lys263Ter) c.3196A>T (p.Lys1066Ter) c.3172A>T (p.Lys1058Ter) c.3139A>T (p.Lys1047Ter) c.3082A>T (p.Lys1028Ter) c.3181A>T (p.Lys1061Ter) c.3157A>T (p.Lys1053Ter) c.2992A>T (p.Lys998Ter) c.3154A>T (p.Lys1052Ter) | |
1 | g.16986841T>C | CA338233396 | ATP13A2 | c.3199A>G (p.Lys1067Glu) c.3067A>G (p.Lys1023Glu) c.3184A>G (p.Lys1062Glu) n.1073A>G c.787A>G (p.Lys263Glu) c.3196A>G (p.Lys1066Glu) c.3172A>G (p.Lys1058Glu) c.3139A>G (p.Lys1047Glu) c.3082A>G (p.Lys1028Glu) c.3181A>G (p.Lys1061Glu) c.3157A>G (p.Lys1053Glu) c.2992A>G (p.Lys998Glu) c.3154A>G (p.Lys1052Glu) | |
1 | g.16986841T>G | CA338233397 | ATP13A2 | c.3199A>C (p.Lys1067Gln) c.3067A>C (p.Lys1023Gln) c.3184A>C (p.Lys1062Gln) n.1073A>C c.787A>C (p.Lys263Gln) c.3196A>C (p.Lys1066Gln) c.3172A>C (p.Lys1058Gln) c.3139A>C (p.Lys1047Gln) c.3082A>C (p.Lys1028Gln) c.3181A>C (p.Lys1061Gln) c.3157A>C (p.Lys1053Gln) c.2992A>C (p.Lys998Gln) c.3154A>C (p.Lys1052Gln) | |
1 | g.16986842G>A | CA416093579 | ATP13A2 | c.3198C>T (p.Ser1066=) c.3066C>T (p.Ser1022=) c.3183C>T (p.Ser1061=) n.1072C>T c.786C>T (p.Ser262=) c.3195C>T (p.Ser1065=) c.3171C>T (p.Ser1057=) c.3138C>T (p.Ser1046=) c.3081C>T (p.Ser1027=) c.3180C>T (p.Ser1060=) c.3156C>T (p.Ser1052=) c.2991C>T (p.Ser997=) c.3153C>T (p.Ser1051=) | gnomAD v4 |
1 | g.16986842G>C | CA416093581 | ATP13A2 | c.3198C>G (p.Ser1066=) c.3066C>G (p.Ser1022=) c.3183C>G (p.Ser1061=) n.1072C>G c.786C>G (p.Ser262=) c.3195C>G (p.Ser1065=) c.3171C>G (p.Ser1057=) c.3138C>G (p.Ser1046=) c.3081C>G (p.Ser1027=) c.3180C>G (p.Ser1060=) c.3156C>G (p.Ser1052=) c.2991C>G (p.Ser997=) c.3153C>G (p.Ser1051=) | |
1 | g.16986842G>T | CA416093583 | ATP13A2 | c.3198C>A (p.Ser1066=) c.3066C>A (p.Ser1022=) c.3183C>A (p.Ser1061=) n.1072C>A c.786C>A (p.Ser262=) c.3195C>A (p.Ser1065=) c.3171C>A (p.Ser1057=) c.3138C>A (p.Ser1046=) c.3081C>A (p.Ser1027=) c.3180C>A (p.Ser1060=) c.3156C>A (p.Ser1052=) c.2991C>A (p.Ser997=) c.3153C>A (p.Ser1051=) | |
1 | g.16986843G>A | CA338233400 | ATP13A2 | c.3197C>T (p.Ser1066Phe) c.3065C>T (p.Ser1022Phe) c.3182C>T (p.Ser1061Phe) n.1071C>T c.785C>T (p.Ser262Phe) c.3194C>T (p.Ser1065Phe) c.3170C>T (p.Ser1057Phe) c.3137C>T (p.Ser1046Phe) c.3080C>T (p.Ser1027Phe) c.3179C>T (p.Ser1060Phe) c.3155C>T (p.Ser1052Phe) c.2990C>T (p.Ser997Phe) c.3152C>T (p.Ser1051Phe) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.16986843G>C | CA338233402 | ATP13A2 | c.3197C>G (p.Ser1066Cys) c.3065C>G (p.Ser1022Cys) c.3182C>G (p.Ser1061Cys) n.1071C>G c.785C>G (p.Ser262Cys) c.3194C>G (p.Ser1065Cys) c.3170C>G (p.Ser1057Cys) c.3137C>G (p.Ser1046Cys) c.3080C>G (p.Ser1027Cys) c.3179C>G (p.Ser1060Cys) c.3155C>G (p.Ser1052Cys) c.2990C>G (p.Ser997Cys) c.3152C>G (p.Ser1051Cys) | |
1 | g.16986843G= | CA1156050417 | ATP13A2 | c.3197C= (p.Ser1066=) c.3065C= (p.Ser1022=) c.3182C= (p.Ser1061=) n.1071C= c.785C= (p.Ser262=) c.3194C= (p.Ser1065=) c.3170C= (p.Ser1057=) c.3137C= (p.Ser1046=) c.3080C= (p.Ser1027=) c.3179C= (p.Ser1060=) c.3155C= (p.Ser1052=) c.2990C= (p.Ser997=) c.3152C= (p.Ser1051=) | |
1 | g.16986843G>T | CA338233399 | ATP13A2 | c.3197C>A (p.Ser1066Tyr) c.3065C>A (p.Ser1022Tyr) c.3182C>A (p.Ser1061Tyr) n.1071C>A c.785C>A (p.Ser262Tyr) c.3194C>A (p.Ser1065Tyr) c.3170C>A (p.Ser1057Tyr) c.3137C>A (p.Ser1046Tyr) c.3080C>A (p.Ser1027Tyr) c.3179C>A (p.Ser1060Tyr) c.3155C>A (p.Ser1052Tyr) c.2990C>A (p.Ser997Tyr) c.3152C>A (p.Ser1051Tyr) | |
1 | g.16986843_16986844insTATCATTAAAAA | CA999085425 | ATP13A2 | c.3196_3197insTTTTTAATGATA (p.Ser1066delinsPhePheAsnAspThr) c.3064_3065insTTTTTAATGATA (p.Ser1022delinsPhePheAsnAspThr) c.3181_3182insTTTTTAATGATA (p.Ser1061delinsPhePheAsnAspThr) n.1070_1071insTTTTTAATGATA c.784_785insTTTTTAATGATA (p.Ser262delinsPhePheAsnAspThr) c.3193_3194insTTTTTAATGATA (p.Ser1065delinsPhePheAsnAspThr) c.3169_3170insTTTTTAATGATA (p.Ser1057delinsPhePheAsnAspThr) c.3136_3137insTTTTTAATGATA (p.Ser1046delinsPhePheAsnAspThr) c.3079_3080insTTTTTAATGATA (p.Ser1027delinsPhePheAsnAspThr) c.3178_3179insTTTTTAATGATA (p.Ser1060delinsPhePheAsnAspThr) c.3154_3155insTTTTTAATGATA (p.Ser1052delinsPhePheAsnAspThr) c.2989_2990insTTTTTAATGATA (p.Ser997delinsPhePheAsnAspThr) c.3151_3152insTTTTTAATGATA (p.Ser1051delinsPhePheAsnAspThr) | gnomAD v3 gnomAD v4 |
1 | g.16986844A>C | CA338233405 | ATP13A2 | c.3196T>G (p.Ser1066Ala) c.3064T>G (p.Ser1022Ala) c.3181T>G (p.Ser1061Ala) n.1070T>G c.784T>G (p.Ser262Ala) c.3193T>G (p.Ser1065Ala) c.3169T>G (p.Ser1057Ala) c.3136T>G (p.Ser1046Ala) c.3079T>G (p.Ser1027Ala) c.3178T>G (p.Ser1060Ala) c.3154T>G (p.Ser1052Ala) c.2989T>G (p.Ser997Ala) c.3151T>G (p.Ser1051Ala) | dbSNP |
1 | g.16986844A>G | CA338233407 | ATP13A2 | c.3196T>C (p.Ser1066Pro) c.3064T>C (p.Ser1022Pro) c.3181T>C (p.Ser1061Pro) n.1070T>C c.784T>C (p.Ser262Pro) c.3193T>C (p.Ser1065Pro) c.3169T>C (p.Ser1057Pro) c.3136T>C (p.Ser1046Pro) c.3079T>C (p.Ser1027Pro) c.3178T>C (p.Ser1060Pro) c.3154T>C (p.Ser1052Pro) c.2989T>C (p.Ser997Pro) c.3151T>C (p.Ser1051Pro) | |
1 | g.16986844A>T | CA338233408 | ATP13A2 | c.3196T>A (p.Ser1066Thr) c.3064T>A (p.Ser1022Thr) c.3181T>A (p.Ser1061Thr) n.1070T>A c.784T>A (p.Ser262Thr) c.3193T>A (p.Ser1065Thr) c.3169T>A (p.Ser1057Thr) c.3136T>A (p.Ser1046Thr) c.3079T>A (p.Ser1027Thr) c.3178T>A (p.Ser1060Thr) c.3154T>A (p.Ser1052Thr) c.2989T>A (p.Ser997Thr) c.3151T>A (p.Ser1051Thr) | |
1 | g.16986844_16986845insTCATTAAAAAA | CA999085423 | ATP13A2 | c.3196_3197insTTTTTAATGAT (p.Ser1066PhefsTer27) c.3064_3065insTTTTTAATGAT (p.Ser1022PhefsTer?) c.3181_3182insTTTTTAATGAT (p.Ser1061PhefsTer27) n.1070_1071insTTTTTAATGAT c.784_785insTTTTTAATGAT (p.Ser262PhefsTer?) c.3196_3197insTTTTTAATGAT (p.Ser1066PhefsTer?) c.3193_3194insTTTTTAATGAT (p.Ser1065PhefsTer?) c.3181_3182insTTTTTAATGAT (p.Ser1061PhefsTer?) c.3169_3170insTTTTTAATGAT (p.Ser1057PhefsTer?) c.3136_3137insTTTTTAATGAT (p.Ser1046PhefsTer?) c.3079_3080insTTTTTAATGAT (p.Ser1027PhefsTer?) c.3178_3179insTTTTTAATGAT (p.Ser1060PhefsTer?) c.3154_3155insTTTTTAATGAT (p.Ser1052PhefsTer?) c.2989_2990insTTTTTAATGAT (p.Ser997PhefsTer?) c.3178_3179insTTTTTAATGAT (p.Ser1060PhefsTer27) c.3154_3155insTTTTTAATGAT (p.Ser1052PhefsTer27) c.3151_3152insTTTTTAATGAT (p.Ser1051PhefsTer27) c.3079_3080insTTTTTAATGAT (p.Ser1027PhefsTer27) c.3064_3065insTTTTTAATGAT (p.Ser1022PhefsTer27) c.2989_2990insTTTTTAATGAT (p.Ser997PhefsTer27) | gnomAD v3 gnomAD v4 |
1 | g.16986845C>A | CA416093584 | ATP13A2 | c.3195G>T (p.Val1065=) c.3063G>T (p.Val1021=) c.3180G>T (p.Val1060=) n.1069G>T c.783G>T (p.Val261=) c.3192G>T (p.Val1064=) c.3168G>T (p.Val1056=) c.3135G>T (p.Val1045=) c.3078G>T (p.Val1026=) c.3177G>T (p.Val1059=) c.3153G>T (p.Val1051=) c.2988G>T (p.Val996=) c.3150G>T (p.Val1050=) | |
1 | g.16986845C>G | CA416093585 | ATP13A2 | c.3195G>C (p.Val1065=) c.3063G>C (p.Val1021=) c.3180G>C (p.Val1060=) n.1069G>C c.783G>C (p.Val261=) c.3192G>C (p.Val1064=) c.3168G>C (p.Val1056=) c.3135G>C (p.Val1045=) c.3078G>C (p.Val1026=) c.3177G>C (p.Val1059=) c.3153G>C (p.Val1051=) c.2988G>C (p.Val996=) c.3150G>C (p.Val1050=) | |
1 | g.16986845C>T | CA416093586 | ATP13A2 | c.3195G>A (p.Val1065=) c.3063G>A (p.Val1021=) c.3180G>A (p.Val1060=) n.1069G>A c.783G>A (p.Val261=) c.3192G>A (p.Val1064=) c.3168G>A (p.Val1056=) c.3135G>A (p.Val1045=) c.3078G>A (p.Val1026=) c.3177G>A (p.Val1059=) c.3153G>A (p.Val1051=) c.2988G>A (p.Val996=) c.3150G>A (p.Val1050=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.16986846A>C | CA338233409 | ATP13A2 | c.3194T>G (p.Val1065Gly) c.3062T>G (p.Val1021Gly) c.3179T>G (p.Val1060Gly) n.1068T>G c.782T>G (p.Val261Gly) c.3191T>G (p.Val1064Gly) c.3167T>G (p.Val1056Gly) c.3134T>G (p.Val1045Gly) c.3077T>G (p.Val1026Gly) c.3176T>G (p.Val1059Gly) c.3152T>G (p.Val1051Gly) c.2987T>G (p.Val996Gly) c.3149T>G (p.Val1050Gly) | |
1 | g.16986846A>G | CA338233410 | ATP13A2 | c.3194T>C (p.Val1065Ala) c.3062T>C (p.Val1021Ala) c.3179T>C (p.Val1060Ala) n.1068T>C c.782T>C (p.Val261Ala) c.3191T>C (p.Val1064Ala) c.3167T>C (p.Val1056Ala) c.3134T>C (p.Val1045Ala) c.3077T>C (p.Val1026Ala) c.3176T>C (p.Val1059Ala) c.3152T>C (p.Val1051Ala) c.2987T>C (p.Val996Ala) c.3149T>C (p.Val1050Ala) | |
1 | g.16986846A>T | CA338233412 | ATP13A2 | c.3194T>A (p.Val1065Glu) c.3062T>A (p.Val1021Glu) c.3179T>A (p.Val1060Glu) n.1068T>A c.782T>A (p.Val261Glu) c.3191T>A (p.Val1064Glu) c.3167T>A (p.Val1056Glu) c.3134T>A (p.Val1045Glu) c.3077T>A (p.Val1026Glu) c.3176T>A (p.Val1059Glu) c.3152T>A (p.Val1051Glu) c.2987T>A (p.Val996Glu) c.3149T>A (p.Val1050Glu) | |
1 | g.16986847C>A | CA18625653 | ATP13A2 | c.3193G>T (p.Val1065Leu) c.3061G>T (p.Val1021Leu) c.3178G>T (p.Val1060Leu) n.1067G>T c.781G>T (p.Val261Leu) c.3190G>T (p.Val1064Leu) c.3166G>T (p.Val1056Leu) c.3133G>T (p.Val1045Leu) c.3076G>T (p.Val1026Leu) c.3175G>T (p.Val1059Leu) c.3151G>T (p.Val1051Leu) c.2986G>T (p.Val996Leu) c.3148G>T (p.Val1050Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.16986847C= | CA1144191785 | ATP13A2 | c.3193G= (p.Val1065=) c.3061G= (p.Val1021=) c.3178G= (p.Val1060=) n.1067G= c.781G= (p.Val261=) c.3190G= (p.Val1064=) c.3166G= (p.Val1056=) c.3133G= (p.Val1045=) c.3076G= (p.Val1026=) c.3175G= (p.Val1059=) c.3151G= (p.Val1051=) c.2986G= (p.Val996=) c.3148G= (p.Val1050=) | |
1 | g.16986847C>G | CA338233416 | ATP13A2 | c.3193G>C (p.Val1065Leu) c.3061G>C (p.Val1021Leu) c.3178G>C (p.Val1060Leu) n.1067G>C c.781G>C (p.Val261Leu) c.3190G>C (p.Val1064Leu) c.3166G>C (p.Val1056Leu) c.3133G>C (p.Val1045Leu) c.3076G>C (p.Val1026Leu) c.3175G>C (p.Val1059Leu) c.3151G>C (p.Val1051Leu) c.2986G>C (p.Val996Leu) c.3148G>C (p.Val1050Leu) | |
1 | g.16986847C>T | CA636581 | ATP13A2 | c.3193G>A (p.Val1065Met) c.3061G>A (p.Val1021Met) c.3178G>A (p.Val1060Met) n.1067G>A c.781G>A (p.Val261Met) c.3190G>A (p.Val1064Met) c.3166G>A (p.Val1056Met) c.3133G>A (p.Val1045Met) c.3076G>A (p.Val1026Met) c.3175G>A (p.Val1059Met) c.3151G>A (p.Val1051Met) c.2986G>A (p.Val996Met) c.3148G>A (p.Val1050Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16986848G>A | CA151959 | ATP13A2 | c.3192C>T (p.Ala1064=) c.3060C>T (p.Ala1020=) c.3177C>T (p.Ala1059=) n.1066C>T c.780C>T (p.Ala260=) c.3189C>T (p.Ala1063=) c.3165C>T (p.Ala1055=) c.3132C>T (p.Ala1044=) c.3075C>T (p.Ala1025=) c.3174C>T (p.Ala1058=) c.3150C>T (p.Ala1050=) c.2985C>T (p.Ala995=) c.3147C>T (p.Ala1049=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16986848G>C | CA416093591 | ATP13A2 | c.3192C>G (p.Ala1064=) c.3060C>G (p.Ala1020=) c.3177C>G (p.Ala1059=) n.1066C>G c.780C>G (p.Ala260=) c.3189C>G (p.Ala1063=) c.3165C>G (p.Ala1055=) c.3132C>G (p.Ala1044=) c.3075C>G (p.Ala1025=) c.3174C>G (p.Ala1058=) c.3150C>G (p.Ala1050=) c.2985C>G (p.Ala995=) c.3147C>G (p.Ala1049=) | gnomAD v4 |
1 | g.16986848G= | CA1140168678 | ATP13A2 | c.3192C= (p.Ala1064=) c.3060C= (p.Ala1020=) c.3177C= (p.Ala1059=) n.1066C= c.780C= (p.Ala260=) c.3189C= (p.Ala1063=) c.3165C= (p.Ala1055=) c.3132C= (p.Ala1044=) c.3075C= (p.Ala1025=) c.3174C= (p.Ala1058=) c.3150C= (p.Ala1050=) c.2985C= (p.Ala995=) c.3147C= (p.Ala1049=) | |
1 | g.16986848G>T | CA416093590 | ATP13A2 | c.3192C>A (p.Ala1064=) c.3060C>A (p.Ala1020=) c.3177C>A (p.Ala1059=) n.1066C>A c.780C>A (p.Ala260=) c.3189C>A (p.Ala1063=) c.3165C>A (p.Ala1055=) c.3132C>A (p.Ala1044=) c.3075C>A (p.Ala1025=) c.3174C>A (p.Ala1058=) c.3150C>A (p.Ala1050=) c.2985C>A (p.Ala995=) c.3147C>A (p.Ala1049=) | |
1 | g.16986849G>A | CA338233431 | ATP13A2 | c.3191C>T (p.Ala1064Val) c.3059C>T (p.Ala1020Val) c.3176C>T (p.Ala1059Val) n.1065C>T c.779C>T (p.Ala260Val) c.3188C>T (p.Ala1063Val) c.3164C>T (p.Ala1055Val) c.3131C>T (p.Ala1044Val) c.3074C>T (p.Ala1025Val) c.3173C>T (p.Ala1058Val) c.3149C>T (p.Ala1050Val) c.2984C>T (p.Ala995Val) c.3146C>T (p.Ala1049Val) | dbSNP gnomAD v2 |
1 | g.16986849G>C | CA338233432 | ATP13A2 | c.3191C>G (p.Ala1064Gly) c.3059C>G (p.Ala1020Gly) c.3176C>G (p.Ala1059Gly) n.1065C>G c.779C>G (p.Ala260Gly) c.3188C>G (p.Ala1063Gly) c.3164C>G (p.Ala1055Gly) c.3131C>G (p.Ala1044Gly) c.3074C>G (p.Ala1025Gly) c.3173C>G (p.Ala1058Gly) c.3149C>G (p.Ala1050Gly) c.2984C>G (p.Ala995Gly) c.3146C>G (p.Ala1049Gly) | |
1 | g.16986849G= | CA1156050433 | ATP13A2 | c.3191C= (p.Ala1064=) c.3059C= (p.Ala1020=) c.3176C= (p.Ala1059=) n.1065C= c.779C= (p.Ala260=) c.3188C= (p.Ala1063=) c.3164C= (p.Ala1055=) c.3131C= (p.Ala1044=) c.3074C= (p.Ala1025=) c.3173C= (p.Ala1058=) c.3149C= (p.Ala1050=) c.2984C= (p.Ala995=) c.3146C= (p.Ala1049=) | |
1 | g.16986849G>T | CA338233433 | ATP13A2 | c.3191C>A (p.Ala1064Asp) c.3059C>A (p.Ala1020Asp) c.3176C>A (p.Ala1059Asp) n.1065C>A c.779C>A (p.Ala260Asp) c.3188C>A (p.Ala1063Asp) c.3164C>A (p.Ala1055Asp) c.3131C>A (p.Ala1044Asp) c.3074C>A (p.Ala1025Asp) c.3173C>A (p.Ala1058Asp) c.3149C>A (p.Ala1050Asp) c.2984C>A (p.Ala995Asp) c.3146C>A (p.Ala1049Asp) | |
1 | g.16986850C>A | CA338233437 | ATP13A2 | c.3190G>T (p.Ala1064Ser) c.3058G>T (p.Ala1020Ser) c.3175G>T (p.Ala1059Ser) n.1064G>T c.778G>T (p.Ala260Ser) c.3187G>T (p.Ala1063Ser) c.3163G>T (p.Ala1055Ser) c.3130G>T (p.Ala1044Ser) c.3073G>T (p.Ala1025Ser) c.3172G>T (p.Ala1058Ser) c.3148G>T (p.Ala1050Ser) c.2983G>T (p.Ala995Ser) c.3145G>T (p.Ala1049Ser) | |
1 | g.16986850C>G | CA338233435 | ATP13A2 | c.3190G>C (p.Ala1064Pro) c.3058G>C (p.Ala1020Pro) c.3175G>C (p.Ala1059Pro) n.1064G>C c.778G>C (p.Ala260Pro) c.3187G>C (p.Ala1063Pro) c.3163G>C (p.Ala1055Pro) c.3130G>C (p.Ala1044Pro) c.3073G>C (p.Ala1025Pro) c.3172G>C (p.Ala1058Pro) c.3148G>C (p.Ala1050Pro) c.2983G>C (p.Ala995Pro) c.3145G>C (p.Ala1049Pro) | |
1 | g.16986850C>T | CA338233436 | ATP13A2 | c.3190G>A (p.Ala1064Thr) c.3058G>A (p.Ala1020Thr) c.3175G>A (p.Ala1059Thr) n.1064G>A c.778G>A (p.Ala260Thr) c.3187G>A (p.Ala1063Thr) c.3163G>A (p.Ala1055Thr) c.3130G>A (p.Ala1044Thr) c.3073G>A (p.Ala1025Thr) c.3172G>A (p.Ala1058Thr) c.3148G>A (p.Ala1050Thr) c.2983G>A (p.Ala995Thr) c.3145G>A (p.Ala1049Thr) | gnomAD v4 |
1 | g.16986851T>A | CA416093593 | ATP13A2 | c.3189A>T (p.Ala1063=) c.3057A>T (p.Ala1019=) c.3174A>T (p.Ala1058=) n.1063A>T c.777A>T (p.Ala259=) c.3186A>T (p.Ala1062=) c.3162A>T (p.Ala1054=) c.3129A>T (p.Ala1043=) c.3072A>T (p.Ala1024=) c.3171A>T (p.Ala1057=) c.3147A>T (p.Ala1049=) c.2982A>T (p.Ala994=) c.3144A>T (p.Ala1048=) | |
1 | g.16986851T>C | CA18625693 | ATP13A2 | c.3189A>G (p.Ala1063=) c.3057A>G (p.Ala1019=) c.3174A>G (p.Ala1058=) n.1063A>G c.777A>G (p.Ala259=) c.3186A>G (p.Ala1062=) c.3162A>G (p.Ala1054=) c.3129A>G (p.Ala1043=) c.3072A>G (p.Ala1024=) c.3171A>G (p.Ala1057=) c.3147A>G (p.Ala1049=) c.2982A>G (p.Ala994=) c.3144A>G (p.Ala1048=) | dbSNP gnomAD v4 |
1 | g.16986851T>G | CA416093594 | ATP13A2 | c.3189A>C (p.Ala1063=) c.3057A>C (p.Ala1019=) c.3174A>C (p.Ala1058=) n.1063A>C c.777A>C (p.Ala259=) c.3186A>C (p.Ala1062=) c.3162A>C (p.Ala1054=) c.3129A>C (p.Ala1043=) c.3072A>C (p.Ala1024=) c.3171A>C (p.Ala1057=) c.3147A>C (p.Ala1049=) c.2982A>C (p.Ala994=) c.3144A>C (p.Ala1048=) | |
1 | g.16986851T= | CA1156050436 | ATP13A2 | c.3189A= (p.Ala1063=) c.3057A= (p.Ala1019=) c.3174A= (p.Ala1058=) n.1063A= c.777A= (p.Ala259=) c.3186A= (p.Ala1062=) c.3162A= (p.Ala1054=) c.3129A= (p.Ala1043=) c.3072A= (p.Ala1024=) c.3171A= (p.Ala1057=) c.3147A= (p.Ala1049=) c.2982A= (p.Ala994=) c.3144A= (p.Ala1048=) | |
1 | g.16986852G>A | CA338233440 | ATP13A2 | c.3188C>T (p.Ala1063Val) c.3056C>T (p.Ala1019Val) c.3173C>T (p.Ala1058Val) n.1062C>T c.776C>T (p.Ala259Val) c.3185C>T (p.Ala1062Val) c.3161C>T (p.Ala1054Val) c.3128C>T (p.Ala1043Val) c.3071C>T (p.Ala1024Val) c.3170C>T (p.Ala1057Val) c.3146C>T (p.Ala1049Val) c.2981C>T (p.Ala994Val) c.3143C>T (p.Ala1048Val) | |
1 | g.16986852G>C | CA338233441 | ATP13A2 | c.3188C>G (p.Ala1063Gly) c.3056C>G (p.Ala1019Gly) c.3173C>G (p.Ala1058Gly) n.1062C>G c.776C>G (p.Ala259Gly) c.3185C>G (p.Ala1062Gly) c.3161C>G (p.Ala1054Gly) c.3128C>G (p.Ala1043Gly) c.3071C>G (p.Ala1024Gly) c.3170C>G (p.Ala1057Gly) c.3146C>G (p.Ala1049Gly) c.2981C>G (p.Ala994Gly) c.3143C>G (p.Ala1048Gly) | |
1 | g.16986852G>T | CA338233443 | ATP13A2 | c.3188C>A (p.Ala1063Glu) c.3056C>A (p.Ala1019Glu) c.3173C>A (p.Ala1058Glu) n.1062C>A c.776C>A (p.Ala259Glu) c.3185C>A (p.Ala1062Glu) c.3161C>A (p.Ala1054Glu) c.3128C>A (p.Ala1043Glu) c.3071C>A (p.Ala1024Glu) c.3170C>A (p.Ala1057Glu) c.3146C>A (p.Ala1049Glu) c.2981C>A (p.Ala994Glu) c.3143C>A (p.Ala1048Glu) | |
1 | g.16986853C>A | CA338233445 | ATP13A2 | c.3187G>T (p.Ala1063Ser) c.3055G>T (p.Ala1019Ser) c.3172G>T (p.Ala1058Ser) n.1061G>T c.775G>T (p.Ala259Ser) c.3184G>T (p.Ala1062Ser) c.3160G>T (p.Ala1054Ser) c.3127G>T (p.Ala1043Ser) c.3070G>T (p.Ala1024Ser) c.3169G>T (p.Ala1057Ser) c.3145G>T (p.Ala1049Ser) c.2980G>T (p.Ala994Ser) c.3142G>T (p.Ala1048Ser) | |
1 | g.16986853C>G | CA338233447 | ATP13A2 | c.3187G>C (p.Ala1063Pro) c.3055G>C (p.Ala1019Pro) c.3172G>C (p.Ala1058Pro) n.1061G>C c.775G>C (p.Ala259Pro) c.3184G>C (p.Ala1062Pro) c.3160G>C (p.Ala1054Pro) c.3127G>C (p.Ala1043Pro) c.3070G>C (p.Ala1024Pro) c.3169G>C (p.Ala1057Pro) c.3145G>C (p.Ala1049Pro) c.2980G>C (p.Ala994Pro) c.3142G>C (p.Ala1048Pro) | |
1 | g.16986853C>T | CA338233448 | ATP13A2 | c.3187G>A (p.Ala1063Thr) c.3055G>A (p.Ala1019Thr) c.3172G>A (p.Ala1058Thr) n.1061G>A c.775G>A (p.Ala259Thr) c.3184G>A (p.Ala1062Thr) c.3160G>A (p.Ala1054Thr) c.3127G>A (p.Ala1043Thr) c.3070G>A (p.Ala1024Thr) c.3169G>A (p.Ala1057Thr) c.3145G>A (p.Ala1049Thr) c.2980G>A (p.Ala994Thr) c.3142G>A (p.Ala1048Thr) | |
1 | g.16986854A>C | CA416093598 | ATP13A2 | c.3186T>G (p.Ala1062=) c.3054T>G (p.Ala1018=) c.3171T>G (p.Ala1057=) n.1060T>G c.774T>G (p.Ala258=) c.3183T>G (p.Ala1061=) c.3159T>G (p.Ala1053=) c.3126T>G (p.Ala1042=) c.3069T>G (p.Ala1023=) c.3168T>G (p.Ala1056=) c.3144T>G (p.Ala1048=) c.2979T>G (p.Ala993=) c.3141T>G (p.Ala1047=) | |
1 | g.16986854A>G | CA416093599 | ATP13A2 | c.3186T>C (p.Ala1062=) c.3054T>C (p.Ala1018=) c.3171T>C (p.Ala1057=) n.1060T>C c.774T>C (p.Ala258=) c.3183T>C (p.Ala1061=) c.3159T>C (p.Ala1053=) c.3126T>C (p.Ala1042=) c.3069T>C (p.Ala1023=) c.3168T>C (p.Ala1056=) c.3144T>C (p.Ala1048=) c.2979T>C (p.Ala993=) c.3141T>C (p.Ala1047=) | dbSNP |
1 | g.16986854A>T | CA416093600 | ATP13A2 | c.3186T>A (p.Ala1062=) c.3054T>A (p.Ala1018=) c.3171T>A (p.Ala1057=) n.1060T>A c.774T>A (p.Ala258=) c.3183T>A (p.Ala1061=) c.3159T>A (p.Ala1053=) c.3126T>A (p.Ala1042=) c.3069T>A (p.Ala1023=) c.3168T>A (p.Ala1056=) c.3144T>A (p.Ala1048=) c.2979T>A (p.Ala993=) c.3141T>A (p.Ala1047=) | |
1 | g.16986855G>A | CA338233449 | ATP13A2 | c.3185C>T (p.Ala1062Val) c.3053C>T (p.Ala1018Val) c.3170C>T (p.Ala1057Val) n.1059C>T c.773C>T (p.Ala258Val) c.3182C>T (p.Ala1061Val) c.3158C>T (p.Ala1053Val) c.3125C>T (p.Ala1042Val) c.3068C>T (p.Ala1023Val) c.3167C>T (p.Ala1056Val) c.3143C>T (p.Ala1048Val) c.2978C>T (p.Ala993Val) c.3140C>T (p.Ala1047Val) | |
1 | g.16986855G>C | CA338233450 | ATP13A2 | c.3185C>G (p.Ala1062Gly) c.3053C>G (p.Ala1018Gly) c.3170C>G (p.Ala1057Gly) n.1059C>G c.773C>G (p.Ala258Gly) c.3182C>G (p.Ala1061Gly) c.3158C>G (p.Ala1053Gly) c.3125C>G (p.Ala1042Gly) c.3068C>G (p.Ala1023Gly) c.3167C>G (p.Ala1056Gly) c.3143C>G (p.Ala1048Gly) c.2978C>G (p.Ala993Gly) c.3140C>G (p.Ala1047Gly) | gnomAD v4 |
1 | g.16986855G>T | CA338233451 | ATP13A2 | c.3185C>A (p.Ala1062Asp) c.3053C>A (p.Ala1018Asp) c.3170C>A (p.Ala1057Asp) n.1059C>A c.773C>A (p.Ala258Asp) c.3182C>A (p.Ala1061Asp) c.3158C>A (p.Ala1053Asp) c.3125C>A (p.Ala1042Asp) c.3068C>A (p.Ala1023Asp) c.3167C>A (p.Ala1056Asp) c.3143C>A (p.Ala1048Asp) c.2978C>A (p.Ala993Asp) c.3140C>A (p.Ala1047Asp) | |
1 | g.16986856_16986878del | CA645512534 | ATP13A2 | c.3163_3185del (p.Ser1055CysfsTer?) c.3031_3053del (p.Ser1011CysfsTer17) c.3148_3170del (p.Ser1050CysfsTer?) n.1037_1059del c.751_773del (p.Ser251CysfsTer17) c.3163_3185del (p.Ser1055CysfsTer17) c.3160_3182del (p.Ser1054CysfsTer17) c.3148_3170del (p.Ser1050CysfsTer17) c.3136_3158del (p.Ser1046CysfsTer17) c.3103_3125del (p.Ser1035CysfsTer17) c.3046_3068del (p.Ser1016CysfsTer17) c.3145_3167del (p.Ser1049CysfsTer17) c.3121_3143del (p.Ser1041CysfsTer17) c.2956_2978del (p.Ser986CysfsTer17) c.3145_3167del (p.Ser1049CysfsTer?) c.3121_3143del (p.Ser1041CysfsTer?) c.3118_3140del (p.Ser1040CysfsTer?) c.3046_3068del (p.Ser1016CysfsTer?) c.3031_3053del (p.Ser1011CysfsTer?) c.2956_2978del (p.Ser986CysfsTer?) | COSMIC COSMIC |
1 | g.16986856C>A | CA338233454 | ATP13A2 | c.3184G>T (p.Ala1062Ser) c.3052G>T (p.Ala1018Ser) c.3169G>T (p.Ala1057Ser) n.1058G>T c.772G>T (p.Ala258Ser) c.3181G>T (p.Ala1061Ser) c.3157G>T (p.Ala1053Ser) c.3124G>T (p.Ala1042Ser) c.3067G>T (p.Ala1023Ser) c.3166G>T (p.Ala1056Ser) c.3142G>T (p.Ala1048Ser) c.2977G>T (p.Ala993Ser) c.3139G>T (p.Ala1047Ser) | ClinVar |
1 | g.16986856C>G | CA338233455 | ATP13A2 | c.3184G>C (p.Ala1062Pro) c.3052G>C (p.Ala1018Pro) c.3169G>C (p.Ala1057Pro) n.1058G>C c.772G>C (p.Ala258Pro) c.3181G>C (p.Ala1061Pro) c.3157G>C (p.Ala1053Pro) c.3124G>C (p.Ala1042Pro) c.3067G>C (p.Ala1023Pro) c.3166G>C (p.Ala1056Pro) c.3142G>C (p.Ala1048Pro) c.2977G>C (p.Ala993Pro) c.3139G>C (p.Ala1047Pro) | |
1 | g.16986856C>T | CA338233457 | ATP13A2 | c.3184G>A (p.Ala1062Thr) c.3052G>A (p.Ala1018Thr) c.3169G>A (p.Ala1057Thr) n.1058G>A c.772G>A (p.Ala258Thr) c.3181G>A (p.Ala1061Thr) c.3157G>A (p.Ala1053Thr) c.3124G>A (p.Ala1042Thr) c.3067G>A (p.Ala1023Thr) c.3166G>A (p.Ala1056Thr) c.3142G>A (p.Ala1048Thr) c.2977G>A (p.Ala993Thr) c.3139G>A (p.Ala1047Thr) | |
1 | g.16986857C>A | CA416093601 | ATP13A2 | c.3183G>T (p.Leu1061=) c.3051G>T (p.Leu1017=) c.3168G>T (p.Leu1056=) n.1057G>T c.771G>T (p.Leu257=) c.3180G>T (p.Leu1060=) c.3156G>T (p.Leu1052=) c.3123G>T (p.Leu1041=) c.3066G>T (p.Leu1022=) c.3165G>T (p.Leu1055=) c.3141G>T (p.Leu1047=) c.2976G>T (p.Leu992=) c.3138G>T (p.Leu1046=) | |
1 | g.16986857C= | CA1143776866 | ATP13A2 | c.3183G= (p.Leu1061=) c.3051G= (p.Leu1017=) c.3168G= (p.Leu1056=) n.1057G= c.771G= (p.Leu257=) c.3180G= (p.Leu1060=) c.3156G= (p.Leu1052=) c.3123G= (p.Leu1041=) c.3066G= (p.Leu1022=) c.3165G= (p.Leu1055=) c.3141G= (p.Leu1047=) c.2976G= (p.Leu992=) c.3138G= (p.Leu1046=) | |
1 | g.16986857C>G | CA416093602 | ATP13A2 | c.3183G>C (p.Leu1061=) c.3051G>C (p.Leu1017=) c.3168G>C (p.Leu1056=) n.1057G>C c.771G>C (p.Leu257=) c.3180G>C (p.Leu1060=) c.3156G>C (p.Leu1052=) c.3123G>C (p.Leu1041=) c.3066G>C (p.Leu1022=) c.3165G>C (p.Leu1055=) c.3141G>C (p.Leu1047=) c.2976G>C (p.Leu992=) c.3138G>C (p.Leu1046=) | |
1 | g.16986857C>T | CA636582 | ATP13A2 | c.3183G>A (p.Leu1061=) c.3051G>A (p.Leu1017=) c.3168G>A (p.Leu1056=) n.1057G>A c.771G>A (p.Leu257=) c.3180G>A (p.Leu1060=) c.3156G>A (p.Leu1052=) c.3123G>A (p.Leu1041=) c.3066G>A (p.Leu1022=) c.3165G>A (p.Leu1055=) c.3141G>A (p.Leu1047=) c.2976G>A (p.Leu992=) c.3138G>A (p.Leu1046=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16986858A>C | CA338233465 | ATP13A2 | c.3182T>G (p.Leu1061Arg) c.3050T>G (p.Leu1017Arg) c.3167T>G (p.Leu1056Arg) n.1056T>G c.770T>G (p.Leu257Arg) c.3179T>G (p.Leu1060Arg) c.3155T>G (p.Leu1052Arg) c.3122T>G (p.Leu1041Arg) c.3065T>G (p.Leu1022Arg) c.3164T>G (p.Leu1055Arg) c.3140T>G (p.Leu1047Arg) c.2975T>G (p.Leu992Arg) c.3137T>G (p.Leu1046Arg) | |
1 | g.16986858A>G | CA338233460 | ATP13A2 | c.3182T>C (p.Leu1061Pro) c.3050T>C (p.Leu1017Pro) c.3167T>C (p.Leu1056Pro) n.1056T>C c.770T>C (p.Leu257Pro) c.3179T>C (p.Leu1060Pro) c.3155T>C (p.Leu1052Pro) c.3122T>C (p.Leu1041Pro) c.3065T>C (p.Leu1022Pro) c.3164T>C (p.Leu1055Pro) c.3140T>C (p.Leu1047Pro) c.2975T>C (p.Leu992Pro) c.3137T>C (p.Leu1046Pro) | |
1 | g.16986858A>T | CA338233468 | ATP13A2 | c.3182T>A (p.Leu1061Gln) c.3050T>A (p.Leu1017Gln) c.3167T>A (p.Leu1056Gln) n.1056T>A c.770T>A (p.Leu257Gln) c.3179T>A (p.Leu1060Gln) c.3155T>A (p.Leu1052Gln) c.3122T>A (p.Leu1041Gln) c.3065T>A (p.Leu1022Gln) c.3164T>A (p.Leu1055Gln) c.3140T>A (p.Leu1047Gln) c.2975T>A (p.Leu992Gln) c.3137T>A (p.Leu1046Gln) | |
1 | g.16986859G>A | CA416093604 | ATP13A2 | c.3181C>T (p.Leu1061=) c.3049C>T (p.Leu1017=) c.3166C>T (p.Leu1056=) n.1055C>T c.769C>T (p.Leu257=) c.3178C>T (p.Leu1060=) c.3154C>T (p.Leu1052=) c.3121C>T (p.Leu1041=) c.3064C>T (p.Leu1022=) c.3163C>T (p.Leu1055=) c.3139C>T (p.Leu1047=) c.2974C>T (p.Leu992=) c.3136C>T (p.Leu1046=) | |
1 | g.16986859G>C | CA338233476 | ATP13A2 | c.3181C>G (p.Leu1061Val) c.3049C>G (p.Leu1017Val) c.3166C>G (p.Leu1056Val) n.1055C>G c.769C>G (p.Leu257Val) c.3178C>G (p.Leu1060Val) c.3154C>G (p.Leu1052Val) c.3121C>G (p.Leu1041Val) c.3064C>G (p.Leu1022Val) c.3163C>G (p.Leu1055Val) c.3139C>G (p.Leu1047Val) c.2974C>G (p.Leu992Val) c.3136C>G (p.Leu1046Val) | |
1 | g.16986859G>T | CA338233487 | ATP13A2 | c.3181C>A (p.Leu1061Met) c.3049C>A (p.Leu1017Met) c.3166C>A (p.Leu1056Met) n.1055C>A c.769C>A (p.Leu257Met) c.3178C>A (p.Leu1060Met) c.3154C>A (p.Leu1052Met) c.3121C>A (p.Leu1041Met) c.3064C>A (p.Leu1022Met) c.3163C>A (p.Leu1055Met) c.3139C>A (p.Leu1047Met) c.2974C>A (p.Leu992Met) c.3136C>A (p.Leu1046Met) | |
1 | g.16986860G>A | CA416093608 | ATP13A2 | c.3180C>T (p.Ile1060=) c.3048C>T (p.Ile1016=) c.3165C>T (p.Ile1055=) n.1054C>T c.768C>T (p.Ile256=) c.3177C>T (p.Ile1059=) c.3153C>T (p.Ile1051=) c.3120C>T (p.Ile1040=) c.3063C>T (p.Ile1021=) c.3162C>T (p.Ile1054=) c.3138C>T (p.Ile1046=) c.2973C>T (p.Ile991=) c.3135C>T (p.Ile1045=) | |
1 | g.16986860G>C | CA338233489 | ATP13A2 | c.3180C>G (p.Ile1060Met) c.3048C>G (p.Ile1016Met) c.3165C>G (p.Ile1055Met) n.1054C>G c.768C>G (p.Ile256Met) c.3177C>G (p.Ile1059Met) c.3153C>G (p.Ile1051Met) c.3120C>G (p.Ile1040Met) c.3063C>G (p.Ile1021Met) c.3162C>G (p.Ile1054Met) c.3138C>G (p.Ile1046Met) c.2973C>G (p.Ile991Met) c.3135C>G (p.Ile1045Met) | |
1 | g.16986860G>T | CA416093609 | ATP13A2 | c.3180C>A (p.Ile1060=) c.3048C>A (p.Ile1016=) c.3165C>A (p.Ile1055=) n.1054C>A c.768C>A (p.Ile256=) c.3177C>A (p.Ile1059=) c.3153C>A (p.Ile1051=) c.3120C>A (p.Ile1040=) c.3063C>A (p.Ile1021=) c.3162C>A (p.Ile1054=) c.3138C>A (p.Ile1046=) c.2973C>A (p.Ile991=) c.3135C>A (p.Ile1045=) | |
1 | g.16986861A>C | CA338233496 | ATP13A2 | c.3179T>G (p.Ile1060Ser) c.3047T>G (p.Ile1016Ser) c.3164T>G (p.Ile1055Ser) n.1053T>G c.767T>G (p.Ile256Ser) c.3176T>G (p.Ile1059Ser) c.3152T>G (p.Ile1051Ser) c.3119T>G (p.Ile1040Ser) c.3062T>G (p.Ile1021Ser) c.3161T>G (p.Ile1054Ser) c.3137T>G (p.Ile1046Ser) c.2972T>G (p.Ile991Ser) c.3134T>G (p.Ile1045Ser) | |
1 | g.16986861A>G | CA338233492 | ATP13A2 | c.3179T>C (p.Ile1060Thr) c.3047T>C (p.Ile1016Thr) c.3164T>C (p.Ile1055Thr) n.1053T>C c.767T>C (p.Ile256Thr) c.3176T>C (p.Ile1059Thr) c.3152T>C (p.Ile1051Thr) c.3119T>C (p.Ile1040Thr) c.3062T>C (p.Ile1021Thr) c.3161T>C (p.Ile1054Thr) c.3137T>C (p.Ile1046Thr) c.2972T>C (p.Ile991Thr) c.3134T>C (p.Ile1045Thr) | |
1 | g.16986861A>T | CA338233502 | ATP13A2 | c.3179T>A (p.Ile1060Asn) c.3047T>A (p.Ile1016Asn) c.3164T>A (p.Ile1055Asn) n.1053T>A c.767T>A (p.Ile256Asn) c.3176T>A (p.Ile1059Asn) c.3152T>A (p.Ile1051Asn) c.3119T>A (p.Ile1040Asn) c.3062T>A (p.Ile1021Asn) c.3161T>A (p.Ile1054Asn) c.3137T>A (p.Ile1046Asn) c.2972T>A (p.Ile991Asn) c.3134T>A (p.Ile1045Asn) | |
1 | g.16986862T>A | CA338233505 | ATP13A2 | c.3178A>T (p.Ile1060Phe) c.3046A>T (p.Ile1016Phe) c.3163A>T (p.Ile1055Phe) n.1052A>T c.766A>T (p.Ile256Phe) c.3175A>T (p.Ile1059Phe) c.3151A>T (p.Ile1051Phe) c.3118A>T (p.Ile1040Phe) c.3061A>T (p.Ile1021Phe) c.3160A>T (p.Ile1054Phe) c.3136A>T (p.Ile1046Phe) c.2971A>T (p.Ile991Phe) c.3133A>T (p.Ile1045Phe) | |
1 | g.16986862T>C | CA338233506 | ATP13A2 | c.3178A>G (p.Ile1060Val) c.3046A>G (p.Ile1016Val) c.3163A>G (p.Ile1055Val) n.1052A>G c.766A>G (p.Ile256Val) c.3175A>G (p.Ile1059Val) c.3151A>G (p.Ile1051Val) c.3118A>G (p.Ile1040Val) c.3061A>G (p.Ile1021Val) c.3160A>G (p.Ile1054Val) c.3136A>G (p.Ile1046Val) c.2971A>G (p.Ile991Val) c.3133A>G (p.Ile1045Val) | |
1 | g.16986862T>G | CA338233508 | ATP13A2 | c.3178A>C (p.Ile1060Leu) c.3046A>C (p.Ile1016Leu) c.3163A>C (p.Ile1055Leu) n.1052A>C c.766A>C (p.Ile256Leu) c.3175A>C (p.Ile1059Leu) c.3151A>C (p.Ile1051Leu) c.3118A>C (p.Ile1040Leu) c.3061A>C (p.Ile1021Leu) c.3160A>C (p.Ile1054Leu) c.3136A>C (p.Ile1046Leu) c.2971A>C (p.Ile991Leu) c.3133A>C (p.Ile1045Leu) | |
1 | g.16986863G>A | CA636583 | ATP13A2 | c.3177C>T (p.Leu1059=) c.3045C>T (p.Leu1015=) c.3162C>T (p.Leu1054=) n.1051C>T c.765C>T (p.Leu255=) c.3174C>T (p.Leu1058=) c.3150C>T (p.Leu1050=) c.3117C>T (p.Leu1039=) c.3060C>T (p.Leu1020=) c.3159C>T (p.Leu1053=) c.3135C>T (p.Leu1045=) c.2970C>T (p.Leu990=) c.3132C>T (p.Leu1044=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16986863G>C | CA416093611 | ATP13A2 | c.3177C>G (p.Leu1059=) c.3045C>G (p.Leu1015=) c.3162C>G (p.Leu1054=) n.1051C>G c.765C>G (p.Leu255=) c.3174C>G (p.Leu1058=) c.3150C>G (p.Leu1050=) c.3117C>G (p.Leu1039=) c.3060C>G (p.Leu1020=) c.3159C>G (p.Leu1053=) c.3135C>G (p.Leu1045=) c.2970C>G (p.Leu990=) c.3132C>G (p.Leu1044=) | |
1 | g.16986863G= | CA1156050444 | ATP13A2 | c.3177C= (p.Leu1059=) c.3045C= (p.Leu1015=) c.3162C= (p.Leu1054=) n.1051C= c.765C= (p.Leu255=) c.3174C= (p.Leu1058=) c.3150C= (p.Leu1050=) c.3117C= (p.Leu1039=) c.3060C= (p.Leu1020=) c.3159C= (p.Leu1053=) c.3135C= (p.Leu1045=) c.2970C= (p.Leu990=) c.3132C= (p.Leu1044=) | |
1 | g.16986863G>T | CA416093610 | ATP13A2 | c.3177C>A (p.Leu1059=) c.3045C>A (p.Leu1015=) c.3162C>A (p.Leu1054=) n.1051C>A c.765C>A (p.Leu255=) c.3174C>A (p.Leu1058=) c.3150C>A (p.Leu1050=) c.3117C>A (p.Leu1039=) c.3060C>A (p.Leu1020=) c.3159C>A (p.Leu1053=) c.3135C>A (p.Leu1045=) c.2970C>A (p.Leu990=) c.3132C>A (p.Leu1044=) | |
1 | g.16986864A= | CA1141580612 | ATP13A2 | c.3176T= (p.Leu1059=) c.3044T= (p.Leu1015=) c.3161T= (p.Leu1054=) n.1050T= c.764T= (p.Leu255=) c.3173T= (p.Leu1058=) c.3149T= (p.Leu1050=) c.3116T= (p.Leu1039=) c.3059T= (p.Leu1020=) c.3158T= (p.Leu1053=) c.3134T= (p.Leu1045=) c.2969T= (p.Leu990=) c.3131T= (p.Leu1044=) | |
1 | g.16986864A>C | CA18625694 | ATP13A2 | c.3176T>G (p.Leu1059Arg) c.3044T>G (p.Leu1015Arg) c.3161T>G (p.Leu1054Arg) n.1050T>G c.764T>G (p.Leu255Arg) c.3173T>G (p.Leu1058Arg) c.3149T>G (p.Leu1050Arg) c.3116T>G (p.Leu1039Arg) c.3059T>G (p.Leu1020Arg) c.3158T>G (p.Leu1053Arg) c.3134T>G (p.Leu1045Arg) c.2969T>G (p.Leu990Arg) c.3131T>G (p.Leu1044Arg) | ClinVar dbSNP |
1 | g.16986864A>G | CA338233510 | ATP13A2 | c.3176T>C (p.Leu1059Pro) c.3044T>C (p.Leu1015Pro) c.3161T>C (p.Leu1054Pro) n.1050T>C c.764T>C (p.Leu255Pro) c.3173T>C (p.Leu1058Pro) c.3149T>C (p.Leu1050Pro) c.3116T>C (p.Leu1039Pro) c.3059T>C (p.Leu1020Pro) c.3158T>C (p.Leu1053Pro) c.3134T>C (p.Leu1045Pro) c.2969T>C (p.Leu990Pro) c.3131T>C (p.Leu1044Pro) | |
1 | g.16986864A>T | CA338233511 | ATP13A2 | c.3176T>A (p.Leu1059His) c.3044T>A (p.Leu1015His) c.3161T>A (p.Leu1054His) n.1050T>A c.764T>A (p.Leu255His) c.3173T>A (p.Leu1058His) c.3149T>A (p.Leu1050His) c.3116T>A (p.Leu1039His) c.3059T>A (p.Leu1020His) c.3158T>A (p.Leu1053His) c.3134T>A (p.Leu1045His) c.2969T>A (p.Leu990His) c.3131T>A (p.Leu1044His) | |
1 | g.16986865G>A | CA636584 | ATP13A2 | c.3175C>T (p.Leu1059Phe) c.3043C>T (p.Leu1015Phe) c.3160C>T (p.Leu1054Phe) n.1049C>T c.763C>T (p.Leu255Phe) c.3172C>T (p.Leu1058Phe) c.3148C>T (p.Leu1050Phe) c.3115C>T (p.Leu1039Phe) c.3058C>T (p.Leu1020Phe) c.3157C>T (p.Leu1053Phe) c.3133C>T (p.Leu1045Phe) c.2968C>T (p.Leu990Phe) c.3130C>T (p.Leu1044Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16986865G>C | CA338233513 | ATP13A2 | c.3175C>G (p.Leu1059Val) c.3043C>G (p.Leu1015Val) c.3160C>G (p.Leu1054Val) n.1049C>G c.763C>G (p.Leu255Val) c.3172C>G (p.Leu1058Val) c.3148C>G (p.Leu1050Val) c.3115C>G (p.Leu1039Val) c.3058C>G (p.Leu1020Val) c.3157C>G (p.Leu1053Val) c.3133C>G (p.Leu1045Val) c.2968C>G (p.Leu990Val) c.3130C>G (p.Leu1044Val) | |
1 | g.16986865G= | CA1156050453 | ATP13A2 | c.3175C= (p.Leu1059=) c.3043C= (p.Leu1015=) c.3160C= (p.Leu1054=) n.1049C= c.763C= (p.Leu255=) c.3172C= (p.Leu1058=) c.3148C= (p.Leu1050=) c.3115C= (p.Leu1039=) c.3058C= (p.Leu1020=) c.3157C= (p.Leu1053=) c.3133C= (p.Leu1045=) c.2968C= (p.Leu990=) c.3130C= (p.Leu1044=) | |
1 | g.16986865G>T | CA338233515 | ATP13A2 | c.3175C>A (p.Leu1059Ile) c.3043C>A (p.Leu1015Ile) c.3160C>A (p.Leu1054Ile) n.1049C>A c.763C>A (p.Leu255Ile) c.3172C>A (p.Leu1058Ile) c.3148C>A (p.Leu1050Ile) c.3115C>A (p.Leu1039Ile) c.3058C>A (p.Leu1020Ile) c.3157C>A (p.Leu1053Ile) c.3133C>A (p.Leu1045Ile) c.2968C>A (p.Leu990Ile) c.3130C>A (p.Leu1044Ile) | |
1 | g.16986866G>A | CA636585 | ATP13A2 | c.3174C>T (p.Tyr1058=) c.3042C>T (p.Tyr1014=) c.3159C>T (p.Tyr1053=) n.1048C>T c.762C>T (p.Tyr254=) c.3171C>T (p.Tyr1057=) c.3147C>T (p.Tyr1049=) c.3114C>T (p.Tyr1038=) c.3057C>T (p.Tyr1019=) c.3156C>T (p.Tyr1052=) c.3132C>T (p.Tyr1044=) c.2967C>T (p.Tyr989=) c.3129C>T (p.Tyr1043=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16986866G>C | CA338233518 | ATP13A2 | c.3174C>G (p.Tyr1058Ter) c.3042C>G (p.Tyr1014Ter) c.3159C>G (p.Tyr1053Ter) n.1048C>G c.762C>G (p.Tyr254Ter) c.3171C>G (p.Tyr1057Ter) c.3147C>G (p.Tyr1049Ter) c.3114C>G (p.Tyr1038Ter) c.3057C>G (p.Tyr1019Ter) c.3156C>G (p.Tyr1052Ter) c.3132C>G (p.Tyr1044Ter) c.2967C>G (p.Tyr989Ter) c.3129C>G (p.Tyr1043Ter) | |
1 | g.16986866G= | CA1156050458 | ATP13A2 | c.3174C= (p.Tyr1058=) c.3042C= (p.Tyr1014=) c.3159C= (p.Tyr1053=) n.1048C= c.762C= (p.Tyr254=) c.3171C= (p.Tyr1057=) c.3147C= (p.Tyr1049=) c.3114C= (p.Tyr1038=) c.3057C= (p.Tyr1019=) c.3156C= (p.Tyr1052=) c.3132C= (p.Tyr1044=) c.2967C= (p.Tyr989=) c.3129C= (p.Tyr1043=) | |
1 | g.16986866G>T | CA338233517 | ATP13A2 | c.3174C>A (p.Tyr1058Ter) c.3042C>A (p.Tyr1014Ter) c.3159C>A (p.Tyr1053Ter) n.1048C>A c.762C>A (p.Tyr254Ter) c.3171C>A (p.Tyr1057Ter) c.3147C>A (p.Tyr1049Ter) c.3114C>A (p.Tyr1038Ter) c.3057C>A (p.Tyr1019Ter) c.3156C>A (p.Tyr1052Ter) c.3132C>A (p.Tyr1044Ter) c.2967C>A (p.Tyr989Ter) c.3129C>A (p.Tyr1043Ter) | |
1 | g.16986867T>A | CA338233519 | ATP13A2 | c.3173A>T (p.Tyr1058Phe) c.3041A>T (p.Tyr1014Phe) c.3158A>T (p.Tyr1053Phe) n.1047A>T c.761A>T (p.Tyr254Phe) c.3170A>T (p.Tyr1057Phe) c.3146A>T (p.Tyr1049Phe) c.3113A>T (p.Tyr1038Phe) c.3056A>T (p.Tyr1019Phe) c.3155A>T (p.Tyr1052Phe) c.3131A>T (p.Tyr1044Phe) c.2966A>T (p.Tyr989Phe) c.3128A>T (p.Tyr1043Phe) | dbSNP |
1 | g.16986867T>C | CA338233520 | ATP13A2 | c.3173A>G (p.Tyr1058Cys) c.3041A>G (p.Tyr1014Cys) c.3158A>G (p.Tyr1053Cys) n.1047A>G c.761A>G (p.Tyr254Cys) c.3170A>G (p.Tyr1057Cys) c.3146A>G (p.Tyr1049Cys) c.3113A>G (p.Tyr1038Cys) c.3056A>G (p.Tyr1019Cys) c.3155A>G (p.Tyr1052Cys) c.3131A>G (p.Tyr1044Cys) c.2966A>G (p.Tyr989Cys) c.3128A>G (p.Tyr1043Cys) | |
1 | g.16986867T>G | CA338233522 | ATP13A2 | c.3173A>C (p.Tyr1058Ser) c.3041A>C (p.Tyr1014Ser) c.3158A>C (p.Tyr1053Ser) n.1047A>C c.761A>C (p.Tyr254Ser) c.3170A>C (p.Tyr1057Ser) c.3146A>C (p.Tyr1049Ser) c.3113A>C (p.Tyr1038Ser) c.3056A>C (p.Tyr1019Ser) c.3155A>C (p.Tyr1052Ser) c.3131A>C (p.Tyr1044Ser) c.2966A>C (p.Tyr989Ser) c.3128A>C (p.Tyr1043Ser) | |
1 | g.16986867T= | CA1156050462 | ATP13A2 | c.3173A= (p.Tyr1058=) c.3041A= (p.Tyr1014=) c.3158A= (p.Tyr1053=) n.1047A= c.761A= (p.Tyr254=) c.3170A= (p.Tyr1057=) c.3146A= (p.Tyr1049=) c.3113A= (p.Tyr1038=) c.3056A= (p.Tyr1019=) c.3155A= (p.Tyr1052=) c.3131A= (p.Tyr1044=) c.2966A= (p.Tyr989=) c.3128A= (p.Tyr1043=) | |
1 | g.16986868A>C | CA338233525 | ATP13A2 | c.3172T>G (p.Tyr1058Asp) c.3040T>G (p.Tyr1014Asp) c.3157T>G (p.Tyr1053Asp) n.1046T>G c.760T>G (p.Tyr254Asp) c.3169T>G (p.Tyr1057Asp) c.3145T>G (p.Tyr1049Asp) c.3112T>G (p.Tyr1038Asp) c.3055T>G (p.Tyr1019Asp) c.3154T>G (p.Tyr1052Asp) c.3130T>G (p.Tyr1044Asp) c.2965T>G (p.Tyr989Asp) c.3127T>G (p.Tyr1043Asp) | |
1 | g.16986868A>G | CA338233526 | ATP13A2 | c.3172T>C (p.Tyr1058His) c.3040T>C (p.Tyr1014His) c.3157T>C (p.Tyr1053His) n.1046T>C c.760T>C (p.Tyr254His) c.3169T>C (p.Tyr1057His) c.3145T>C (p.Tyr1049His) c.3112T>C (p.Tyr1038His) c.3055T>C (p.Tyr1019His) c.3154T>C (p.Tyr1052His) c.3130T>C (p.Tyr1044His) c.2965T>C (p.Tyr989His) c.3127T>C (p.Tyr1043His) | |
1 | g.16986868A>T | CA338233527 | ATP13A2 | c.3172T>A (p.Tyr1058Asn) c.3040T>A (p.Tyr1014Asn) c.3157T>A (p.Tyr1053Asn) n.1046T>A c.760T>A (p.Tyr254Asn) c.3169T>A (p.Tyr1057Asn) c.3145T>A (p.Tyr1049Asn) c.3112T>A (p.Tyr1038Asn) c.3055T>A (p.Tyr1019Asn) c.3154T>A (p.Tyr1052Asn) c.3130T>A (p.Tyr1044Asn) c.2965T>A (p.Tyr989Asn) c.3127T>A (p.Tyr1043Asn) | |
1 | g.16986869C>A | CA338233528 | ATP13A2 | c.3171G>T (p.Gln1057His) c.3039G>T (p.Gln1013His) c.3156G>T (p.Gln1052His) n.1045G>T c.759G>T (p.Gln253His) c.3168G>T (p.Gln1056His) c.3144G>T (p.Gln1048His) c.3111G>T (p.Gln1037His) c.3054G>T (p.Gln1018His) c.3153G>T (p.Gln1051His) c.3129G>T (p.Gln1043His) c.2964G>T (p.Gln988His) c.3126G>T (p.Gln1042His) | |
1 | g.16986869C= | CA1156050465 | ATP13A2 | c.3171G= (p.Gln1057=) c.3039G= (p.Gln1013=) c.3156G= (p.Gln1052=) n.1045G= c.759G= (p.Gln253=) c.3168G= (p.Gln1056=) c.3144G= (p.Gln1048=) c.3111G= (p.Gln1037=) c.3054G= (p.Gln1018=) c.3153G= (p.Gln1051=) c.3129G= (p.Gln1043=) c.2964G= (p.Gln988=) c.3126G= (p.Gln1042=) | |
1 | g.16986869C>G | CA338233529 | ATP13A2 | c.3171G>C (p.Gln1057His) c.3039G>C (p.Gln1013His) c.3156G>C (p.Gln1052His) n.1045G>C c.759G>C (p.Gln253His) c.3168G>C (p.Gln1056His) c.3144G>C (p.Gln1048His) c.3111G>C (p.Gln1037His) c.3054G>C (p.Gln1018His) c.3153G>C (p.Gln1051His) c.3129G>C (p.Gln1043His) c.2964G>C (p.Gln988His) c.3126G>C (p.Gln1042His) | |
1 | g.16986869C>T | CA636586 | ATP13A2 | c.3171G>A (p.Gln1057=) c.3039G>A (p.Gln1013=) c.3156G>A (p.Gln1052=) n.1045G>A c.759G>A (p.Gln253=) c.3168G>A (p.Gln1056=) c.3144G>A (p.Gln1048=) c.3111G>A (p.Gln1037=) c.3054G>A (p.Gln1018=) c.3153G>A (p.Gln1051=) c.3129G>A (p.Gln1043=) c.2964G>A (p.Gln988=) c.3126G>A (p.Gln1042=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.16986870T>A | CA338233530 | ATP13A2 | c.3170A>T (p.Gln1057Leu) c.3038A>T (p.Gln1013Leu) c.3155A>T (p.Gln1052Leu) n.1044A>T c.758A>T (p.Gln253Leu) c.3167A>T (p.Gln1056Leu) c.3143A>T (p.Gln1048Leu) c.3110A>T (p.Gln1037Leu) c.3053A>T (p.Gln1018Leu) c.3152A>T (p.Gln1051Leu) c.3128A>T (p.Gln1043Leu) c.2963A>T (p.Gln988Leu) c.3125A>T (p.Gln1042Leu) | |
1 | g.16986870T>C | CA338233531 | ATP13A2 | c.3170A>G (p.Gln1057Arg) c.3038A>G (p.Gln1013Arg) c.3155A>G (p.Gln1052Arg) n.1044A>G c.758A>G (p.Gln253Arg) c.3167A>G (p.Gln1056Arg) c.3143A>G (p.Gln1048Arg) c.3110A>G (p.Gln1037Arg) c.3053A>G (p.Gln1018Arg) c.3152A>G (p.Gln1051Arg) c.3128A>G (p.Gln1043Arg) c.2963A>G (p.Gln988Arg) c.3125A>G (p.Gln1042Arg) | |
1 | g.16986870T>G | CA338233533 | ATP13A2 | c.3170A>C (p.Gln1057Pro) c.3038A>C (p.Gln1013Pro) c.3155A>C (p.Gln1052Pro) n.1044A>C c.758A>C (p.Gln253Pro) c.3167A>C (p.Gln1056Pro) c.3143A>C (p.Gln1048Pro) c.3110A>C (p.Gln1037Pro) c.3053A>C (p.Gln1018Pro) c.3152A>C (p.Gln1051Pro) c.3128A>C (p.Gln1043Pro) c.2963A>C (p.Gln988Pro) c.3125A>C (p.Gln1042Pro) | |
1 | g.16986871G>A | CA338233535 | ATP13A2 | c.3169C>T (p.Gln1057Ter) c.3037C>T (p.Gln1013Ter) c.3154C>T (p.Gln1052Ter) n.1043C>T c.757C>T (p.Gln253Ter) c.3166C>T (p.Gln1056Ter) c.3142C>T (p.Gln1048Ter) c.3109C>T (p.Gln1037Ter) c.3052C>T (p.Gln1018Ter) c.3151C>T (p.Gln1051Ter) c.3127C>T (p.Gln1043Ter) c.2962C>T (p.Gln988Ter) c.3124C>T (p.Gln1042Ter) | |
1 | g.16986871G>C | CA338233539 | ATP13A2 | c.3169C>G (p.Gln1057Glu) c.3037C>G (p.Gln1013Glu) c.3154C>G (p.Gln1052Glu) n.1043C>G c.757C>G (p.Gln253Glu) c.3166C>G (p.Gln1056Glu) c.3142C>G (p.Gln1048Glu) c.3109C>G (p.Gln1037Glu) c.3052C>G (p.Gln1018Glu) c.3151C>G (p.Gln1051Glu) c.3127C>G (p.Gln1043Glu) c.2962C>G (p.Gln988Glu) c.3124C>G (p.Gln1042Glu) | |
1 | g.16986871G>T | CA338233534 | ATP13A2 | c.3169C>A (p.Gln1057Lys) c.3037C>A (p.Gln1013Lys) c.3154C>A (p.Gln1052Lys) n.1043C>A c.757C>A (p.Gln253Lys) c.3166C>A (p.Gln1056Lys) c.3142C>A (p.Gln1048Lys) c.3109C>A (p.Gln1037Lys) c.3052C>A (p.Gln1018Lys) c.3151C>A (p.Gln1051Lys) c.3127C>A (p.Gln1043Lys) c.2962C>A (p.Gln988Lys) c.3124C>A (p.Gln1042Lys) | |
1 | g.16986872G>A | CA416093620 | ATP13A2 | c.3168C>T (p.Phe1056=) c.3036C>T (p.Phe1012=) c.3153C>T (p.Phe1051=) n.1042C>T c.756C>T (p.Phe252=) c.3165C>T (p.Phe1055=) c.3141C>T (p.Phe1047=) c.3108C>T (p.Phe1036=) c.3051C>T (p.Phe1017=) c.3150C>T (p.Phe1050=) c.3126C>T (p.Phe1042=) c.2961C>T (p.Phe987=) c.3123C>T (p.Phe1041=) | COSMIC COSMIC |
1 | g.16986872G>C | CA338233540 | ATP13A2 | c.3168C>G (p.Phe1056Leu) c.3036C>G (p.Phe1012Leu) c.3153C>G (p.Phe1051Leu) n.1042C>G c.756C>G (p.Phe252Leu) c.3165C>G (p.Phe1055Leu) c.3141C>G (p.Phe1047Leu) c.3108C>G (p.Phe1036Leu) c.3051C>G (p.Phe1017Leu) c.3150C>G (p.Phe1050Leu) c.3126C>G (p.Phe1042Leu) c.2961C>G (p.Phe987Leu) c.3123C>G (p.Phe1041Leu) | |
1 | g.16986872G>T | CA338233542 | ATP13A2 | c.3168C>A (p.Phe1056Leu) c.3036C>A (p.Phe1012Leu) c.3153C>A (p.Phe1051Leu) n.1042C>A c.756C>A (p.Phe252Leu) c.3165C>A (p.Phe1055Leu) c.3141C>A (p.Phe1047Leu) c.3108C>A (p.Phe1036Leu) c.3051C>A (p.Phe1017Leu) c.3150C>A (p.Phe1050Leu) c.3126C>A (p.Phe1042Leu) c.2961C>A (p.Phe987Leu) c.3123C>A (p.Phe1041Leu) | |
1 | g.16986873A>C | CA338233544 | ATP13A2 | c.3167T>G (p.Phe1056Cys) c.3035T>G (p.Phe1012Cys) c.3152T>G (p.Phe1051Cys) n.1041T>G c.755T>G (p.Phe252Cys) c.3164T>G (p.Phe1055Cys) c.3140T>G (p.Phe1047Cys) c.3107T>G (p.Phe1036Cys) c.3050T>G (p.Phe1017Cys) c.3149T>G (p.Phe1050Cys) c.3125T>G (p.Phe1042Cys) c.2960T>G (p.Phe987Cys) c.3122T>G (p.Phe1041Cys) | |
1 | g.16986873A>G | CA338233546 | ATP13A2 | c.3167T>C (p.Phe1056Ser) c.3035T>C (p.Phe1012Ser) c.3152T>C (p.Phe1051Ser) n.1041T>C c.755T>C (p.Phe252Ser) c.3164T>C (p.Phe1055Ser) c.3140T>C (p.Phe1047Ser) c.3107T>C (p.Phe1036Ser) c.3050T>C (p.Phe1017Ser) c.3149T>C (p.Phe1050Ser) c.3125T>C (p.Phe1042Ser) c.2960T>C (p.Phe987Ser) c.3122T>C (p.Phe1041Ser) | |
1 | g.16986873A>T | CA338233553 | ATP13A2 | c.3167T>A (p.Phe1056Tyr) c.3035T>A (p.Phe1012Tyr) c.3152T>A (p.Phe1051Tyr) n.1041T>A c.755T>A (p.Phe252Tyr) c.3164T>A (p.Phe1055Tyr) c.3140T>A (p.Phe1047Tyr) c.3107T>A (p.Phe1036Tyr) c.3050T>A (p.Phe1017Tyr) c.3149T>A (p.Phe1050Tyr) c.3125T>A (p.Phe1042Tyr) c.2960T>A (p.Phe987Tyr) c.3122T>A (p.Phe1041Tyr) | |
1 | g.16986874A>C | CA338233555 | ATP13A2 | c.3166T>G (p.Phe1056Val) c.3034T>G (p.Phe1012Val) c.3151T>G (p.Phe1051Val) n.1040T>G c.754T>G (p.Phe252Val) c.3163T>G (p.Phe1055Val) c.3139T>G (p.Phe1047Val) c.3106T>G (p.Phe1036Val) c.3049T>G (p.Phe1017Val) c.3148T>G (p.Phe1050Val) c.3124T>G (p.Phe1042Val) c.2959T>G (p.Phe987Val) c.3121T>G (p.Phe1041Val) | |
1 | g.16986874A>G | CA338233556 | ATP13A2 | c.3166T>C (p.Phe1056Leu) c.3034T>C (p.Phe1012Leu) c.3151T>C (p.Phe1051Leu) n.1040T>C c.754T>C (p.Phe252Leu) c.3163T>C (p.Phe1055Leu) c.3139T>C (p.Phe1047Leu) c.3106T>C (p.Phe1036Leu) c.3049T>C (p.Phe1017Leu) c.3148T>C (p.Phe1050Leu) c.3124T>C (p.Phe1042Leu) c.2959T>C (p.Phe987Leu) c.3121T>C (p.Phe1041Leu) | |
1 | g.16986874A>T | CA338233560 | ATP13A2 | c.3166T>A (p.Phe1056Ile) c.3034T>A (p.Phe1012Ile) c.3151T>A (p.Phe1051Ile) n.1040T>A c.754T>A (p.Phe252Ile) c.3163T>A (p.Phe1055Ile) c.3139T>A (p.Phe1047Ile) c.3106T>A (p.Phe1036Ile) c.3049T>A (p.Phe1017Ile) c.3148T>A (p.Phe1050Ile) c.3124T>A (p.Phe1042Ile) c.2959T>A (p.Phe987Ile) c.3121T>A (p.Phe1041Ile) | |
1 | g.16986875G>A | CA416093621 | ATP13A2 | c.3165C>T (p.Ser1055=) c.3033C>T (p.Ser1011=) c.3150C>T (p.Ser1050=) n.1039C>T c.753C>T (p.Ser251=) c.3162C>T (p.Ser1054=) c.3138C>T (p.Ser1046=) c.3105C>T (p.Ser1035=) c.3048C>T (p.Ser1016=) c.3147C>T (p.Ser1049=) c.3123C>T (p.Ser1041=) c.2958C>T (p.Ser986=) c.3120C>T (p.Ser1040=) | |
1 | g.16986875G>C | CA338233562 | ATP13A2 | c.3165C>G (p.Ser1055Arg) c.3033C>G (p.Ser1011Arg) c.3150C>G (p.Ser1050Arg) n.1039C>G c.753C>G (p.Ser251Arg) c.3162C>G (p.Ser1054Arg) c.3138C>G (p.Ser1046Arg) c.3105C>G (p.Ser1035Arg) c.3048C>G (p.Ser1016Arg) c.3147C>G (p.Ser1049Arg) c.3123C>G (p.Ser1041Arg) c.2958C>G (p.Ser986Arg) c.3120C>G (p.Ser1040Arg) | |
1 | g.16986875G>T | CA338233564 | ATP13A2 | c.3165C>A (p.Ser1055Arg) c.3033C>A (p.Ser1011Arg) c.3150C>A (p.Ser1050Arg) n.1039C>A c.753C>A (p.Ser251Arg) c.3162C>A (p.Ser1054Arg) c.3138C>A (p.Ser1046Arg) c.3105C>A (p.Ser1035Arg) c.3048C>A (p.Ser1016Arg) c.3147C>A (p.Ser1049Arg) c.3123C>A (p.Ser1041Arg) c.2958C>A (p.Ser986Arg) c.3120C>A (p.Ser1040Arg) | |
1 | g.16986876C>A | CA338233565 | ATP13A2 | c.3164G>T (p.Ser1055Ile) c.3032G>T (p.Ser1011Ile) c.3149G>T (p.Ser1050Ile) n.1038G>T c.752G>T (p.Ser251Ile) c.3161G>T (p.Ser1054Ile) c.3137G>T (p.Ser1046Ile) c.3104G>T (p.Ser1035Ile) c.3047G>T (p.Ser1016Ile) c.3146G>T (p.Ser1049Ile) c.3122G>T (p.Ser1041Ile) c.2957G>T (p.Ser986Ile) c.3119G>T (p.Ser1040Ile) | |
1 | g.16986876C= | CA1156050468 | ATP13A2 | c.3164G= (p.Ser1055=) c.3032G= (p.Ser1011=) c.3149G= (p.Ser1050=) n.1038G= c.752G= (p.Ser251=) c.3161G= (p.Ser1054=) c.3137G= (p.Ser1046=) c.3104G= (p.Ser1035=) c.3047G= (p.Ser1016=) c.3146G= (p.Ser1049=) c.3122G= (p.Ser1041=) c.2957G= (p.Ser986=) c.3119G= (p.Ser1040=) | |
1 | g.16986876C>G | CA18625726 | ATP13A2 | c.3164G>C (p.Ser1055Thr) c.3032G>C (p.Ser1011Thr) c.3149G>C (p.Ser1050Thr) n.1038G>C c.752G>C (p.Ser251Thr) c.3161G>C (p.Ser1054Thr) c.3137G>C (p.Ser1046Thr) c.3104G>C (p.Ser1035Thr) c.3047G>C (p.Ser1016Thr) c.3146G>C (p.Ser1049Thr) c.3122G>C (p.Ser1041Thr) c.2957G>C (p.Ser986Thr) c.3119G>C (p.Ser1040Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16986876C>T | CA338233569 | ATP13A2 | c.3164G>A (p.Ser1055Asn) c.3032G>A (p.Ser1011Asn) c.3149G>A (p.Ser1050Asn) n.1038G>A c.752G>A (p.Ser251Asn) c.3161G>A (p.Ser1054Asn) c.3137G>A (p.Ser1046Asn) c.3104G>A (p.Ser1035Asn) c.3047G>A (p.Ser1016Asn) c.3146G>A (p.Ser1049Asn) c.3122G>A (p.Ser1041Asn) c.2957G>A (p.Ser986Asn) c.3119G>A (p.Ser1040Asn) | |
1 | g.16986877T>A | CA338233572 | ATP13A2 | c.3163A>T (p.Ser1055Cys) c.3031A>T (p.Ser1011Cys) c.3148A>T (p.Ser1050Cys) n.1037A>T c.751A>T (p.Ser251Cys) c.3160A>T (p.Ser1054Cys) c.3136A>T (p.Ser1046Cys) c.3103A>T (p.Ser1035Cys) c.3046A>T (p.Ser1016Cys) c.3145A>T (p.Ser1049Cys) c.3121A>T (p.Ser1041Cys) c.2956A>T (p.Ser986Cys) c.3118A>T (p.Ser1040Cys) | |
1 | g.16986877T>C | CA338233571 | ATP13A2 | c.3163A>G (p.Ser1055Gly) c.3031A>G (p.Ser1011Gly) c.3148A>G (p.Ser1050Gly) n.1037A>G c.751A>G (p.Ser251Gly) c.3160A>G (p.Ser1054Gly) c.3136A>G (p.Ser1046Gly) c.3103A>G (p.Ser1035Gly) c.3046A>G (p.Ser1016Gly) c.3145A>G (p.Ser1049Gly) c.3121A>G (p.Ser1041Gly) c.2956A>G (p.Ser986Gly) c.3118A>G (p.Ser1040Gly) | |
1 | g.16986877T>G | CA338233570 | ATP13A2 | c.3163A>C (p.Ser1055Arg) c.3031A>C (p.Ser1011Arg) c.3148A>C (p.Ser1050Arg) n.1037A>C c.751A>C (p.Ser251Arg) c.3160A>C (p.Ser1054Arg) c.3136A>C (p.Ser1046Arg) c.3103A>C (p.Ser1035Arg) c.3046A>C (p.Ser1016Arg) c.3145A>C (p.Ser1049Arg) c.3121A>C (p.Ser1041Arg) c.2956A>C (p.Ser986Arg) c.3118A>C (p.Ser1040Arg) | |
1 | g.16986878G>A | CA416093627 | ATP13A2 | c.3162C>T (p.Ser1054=) c.3030C>T (p.Ser1010=) c.3147C>T (p.Ser1049=) n.1036C>T c.750C>T (p.Ser250=) c.3159C>T (p.Ser1053=) c.3135C>T (p.Ser1045=) c.3102C>T (p.Ser1034=) c.3045C>T (p.Ser1015=) c.3144C>T (p.Ser1048=) c.3120C>T (p.Ser1040=) c.2955C>T (p.Ser985=) c.3117C>T (p.Ser1039=) | gnomAD v4 |
1 | g.16986878G>C | CA416093626 | ATP13A2 | c.3162C>G (p.Ser1054=) c.3030C>G (p.Ser1010=) c.3147C>G (p.Ser1049=) n.1036C>G c.750C>G (p.Ser250=) c.3159C>G (p.Ser1053=) c.3135C>G (p.Ser1045=) c.3102C>G (p.Ser1034=) c.3045C>G (p.Ser1015=) c.3144C>G (p.Ser1048=) c.3120C>G (p.Ser1040=) c.2955C>G (p.Ser985=) c.3117C>G (p.Ser1039=) | dbSNP gnomAD v4 |
1 | g.16986878G= | CA1156050471 | ATP13A2 | c.3162C= (p.Ser1054=) c.3030C= (p.Ser1010=) c.3147C= (p.Ser1049=) n.1036C= c.750C= (p.Ser250=) c.3159C= (p.Ser1053=) c.3135C= (p.Ser1045=) c.3102C= (p.Ser1034=) c.3045C= (p.Ser1015=) c.3144C= (p.Ser1048=) c.3120C= (p.Ser1040=) c.2955C= (p.Ser985=) c.3117C= (p.Ser1039=) | |
1 | g.16986878G>T | CA416093625 | ATP13A2 | c.3162C>A (p.Ser1054=) c.3030C>A (p.Ser1010=) c.3147C>A (p.Ser1049=) n.1036C>A c.750C>A (p.Ser250=) c.3159C>A (p.Ser1053=) c.3135C>A (p.Ser1045=) c.3102C>A (p.Ser1034=) c.3045C>A (p.Ser1015=) c.3144C>A (p.Ser1048=) c.3120C>A (p.Ser1040=) c.2955C>A (p.Ser985=) c.3117C>A (p.Ser1039=) | |
1 | g.16986879G>A | CA338233573 | ATP13A2 | c.3161C>T (p.Ser1054Phe) c.3029C>T (p.Ser1010Phe) c.3146C>T (p.Ser1049Phe) n.1035C>T c.749C>T (p.Ser250Phe) c.3158C>T (p.Ser1053Phe) c.3134C>T (p.Ser1045Phe) c.3101C>T (p.Ser1034Phe) c.3044C>T (p.Ser1015Phe) c.3143C>T (p.Ser1048Phe) c.3119C>T (p.Ser1040Phe) c.2954C>T (p.Ser985Phe) c.3116C>T (p.Ser1039Phe) | |
1 | g.16986879G>C | CA338233575 | ATP13A2 | c.3161C>G (p.Ser1054Cys) c.3029C>G (p.Ser1010Cys) c.3146C>G (p.Ser1049Cys) n.1035C>G c.749C>G (p.Ser250Cys) c.3158C>G (p.Ser1053Cys) c.3134C>G (p.Ser1045Cys) c.3101C>G (p.Ser1034Cys) c.3044C>G (p.Ser1015Cys) c.3143C>G (p.Ser1048Cys) c.3119C>G (p.Ser1040Cys) c.2954C>G (p.Ser985Cys) c.3116C>G (p.Ser1039Cys) | |
1 | g.16986879G>T | CA338233577 | ATP13A2 | c.3161C>A (p.Ser1054Tyr) c.3029C>A (p.Ser1010Tyr) c.3146C>A (p.Ser1049Tyr) n.1035C>A c.749C>A (p.Ser250Tyr) c.3158C>A (p.Ser1053Tyr) c.3134C>A (p.Ser1045Tyr) c.3101C>A (p.Ser1034Tyr) c.3044C>A (p.Ser1015Tyr) c.3143C>A (p.Ser1048Tyr) c.3119C>A (p.Ser1040Tyr) c.2954C>A (p.Ser985Tyr) c.3116C>A (p.Ser1039Tyr) | |
1 | g.16986880A>C | CA338233581 | ATP13A2 | c.3160T>G (p.Ser1054Ala) c.3028T>G (p.Ser1010Ala) c.3145T>G (p.Ser1049Ala) n.1034T>G c.748T>G (p.Ser250Ala) c.3157T>G (p.Ser1053Ala) c.3133T>G (p.Ser1045Ala) c.3100T>G (p.Ser1034Ala) c.3043T>G (p.Ser1015Ala) c.3142T>G (p.Ser1048Ala) c.3118T>G (p.Ser1040Ala) c.2953T>G (p.Ser985Ala) c.3115T>G (p.Ser1039Ala) | |
1 | g.16986880A>G | CA338233582 | ATP13A2 | c.3160T>C (p.Ser1054Pro) c.3028T>C (p.Ser1010Pro) c.3145T>C (p.Ser1049Pro) n.1034T>C c.748T>C (p.Ser250Pro) c.3157T>C (p.Ser1053Pro) c.3133T>C (p.Ser1045Pro) c.3100T>C (p.Ser1034Pro) c.3043T>C (p.Ser1015Pro) c.3142T>C (p.Ser1048Pro) c.3118T>C (p.Ser1040Pro) c.2953T>C (p.Ser985Pro) c.3115T>C (p.Ser1039Pro) | |
1 | g.16986880A>T | CA338233584 | ATP13A2 | c.3160T>A (p.Ser1054Thr) c.3028T>A (p.Ser1010Thr) c.3145T>A (p.Ser1049Thr) n.1034T>A c.748T>A (p.Ser250Thr) c.3157T>A (p.Ser1053Thr) c.3133T>A (p.Ser1045Thr) c.3100T>A (p.Ser1034Thr) c.3043T>A (p.Ser1015Thr) c.3142T>A (p.Ser1048Thr) c.3118T>A (p.Ser1040Thr) c.2953T>A (p.Ser985Thr) c.3115T>A (p.Ser1039Thr) | |
1 | g.16986881C>A | CA416093720 | ATP13A2 | c.3159G>T (p.Leu1053=) c.3027G>T (p.Leu1009=) c.3144G>T (p.Leu1048=) n.1033G>T c.747G>T (p.Leu249=) c.3156G>T (p.Leu1052=) c.3132G>T (p.Leu1044=) c.3099G>T (p.Leu1033=) c.3042G>T (p.Leu1014=) c.3141G>T (p.Leu1047=) c.3117G>T (p.Leu1039=) c.2952G>T (p.Leu984=) c.3114G>T (p.Leu1038=) | |
1 | g.16986881C= | CA1141739419 | ATP13A2 | c.3159G= (p.Leu1053=) c.3027G= (p.Leu1009=) c.3144G= (p.Leu1048=) n.1033G= c.747G= (p.Leu249=) c.3156G= (p.Leu1052=) c.3132G= (p.Leu1044=) c.3099G= (p.Leu1033=) c.3042G= (p.Leu1014=) c.3141G= (p.Leu1047=) c.3117G= (p.Leu1039=) c.2952G= (p.Leu984=) c.3114G= (p.Leu1038=) | |
1 | g.16986881C>G | CA636587 | ATP13A2 | c.3159G>C (p.Leu1053=) c.3027G>C (p.Leu1009=) c.3144G>C (p.Leu1048=) n.1033G>C c.747G>C (p.Leu249=) c.3156G>C (p.Leu1052=) c.3132G>C (p.Leu1044=) c.3099G>C (p.Leu1033=) c.3042G>C (p.Leu1014=) c.3141G>C (p.Leu1047=) c.3117G>C (p.Leu1039=) c.2952G>C (p.Leu984=) c.3114G>C (p.Leu1038=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16986881C>T | CA416093721 | ATP13A2 | c.3159G>A (p.Leu1053=) c.3027G>A (p.Leu1009=) c.3144G>A (p.Leu1048=) n.1033G>A c.747G>A (p.Leu249=) c.3156G>A (p.Leu1052=) c.3132G>A (p.Leu1044=) c.3099G>A (p.Leu1033=) c.3042G>A (p.Leu1014=) c.3141G>A (p.Leu1047=) c.3117G>A (p.Leu1039=) c.2952G>A (p.Leu984=) c.3114G>A (p.Leu1038=) | gnomAD v4 |
1 | g.16986881_16986883delinsCAG | CA1156050477 | ATP13A2 | c.3157_3159delinsCTG (p.Leu1053=) c.3025_3027delinsCTG (p.Leu1009=) c.3142_3144delinsCTG (p.Leu1048=) n.1031_1033delinsCTG c.745_747delinsCTG (p.Leu249=) c.3154_3156delinsCTG (p.Leu1052=) c.3130_3132delinsCTG (p.Leu1044=) c.3097_3099delinsCTG (p.Leu1033=) c.3040_3042delinsCTG (p.Leu1014=) c.3139_3141delinsCTG (p.Leu1047=) c.3115_3117delinsCTG (p.Leu1039=) c.2950_2952delinsCTG (p.Leu984=) c.3112_3114delinsCTG (p.Leu1038=) | |
1 | g.16986882A>C | CA338233585 | ATP13A2 | c.3158T>G (p.Leu1053Arg) c.3026T>G (p.Leu1009Arg) c.3143T>G (p.Leu1048Arg) n.1032T>G c.746T>G (p.Leu249Arg) c.3155T>G (p.Leu1052Arg) c.3131T>G (p.Leu1044Arg) c.3098T>G (p.Leu1033Arg) c.3041T>G (p.Leu1014Arg) c.3140T>G (p.Leu1047Arg) c.3116T>G (p.Leu1039Arg) c.2951T>G (p.Leu984Arg) c.3113T>G (p.Leu1038Arg) | |
1 | g.16986882A>G | CA338233586 | ATP13A2 | c.3158T>C (p.Leu1053Pro) c.3026T>C (p.Leu1009Pro) c.3143T>C (p.Leu1048Pro) n.1032T>C c.746T>C (p.Leu249Pro) c.3155T>C (p.Leu1052Pro) c.3131T>C (p.Leu1044Pro) c.3098T>C (p.Leu1033Pro) c.3041T>C (p.Leu1014Pro) c.3140T>C (p.Leu1047Pro) c.3116T>C (p.Leu1039Pro) c.2951T>C (p.Leu984Pro) c.3113T>C (p.Leu1038Pro) | |
1 | g.16986882A>T | CA338233588 | ATP13A2 | c.3158T>A (p.Leu1053Gln) c.3026T>A (p.Leu1009Gln) c.3143T>A (p.Leu1048Gln) n.1032T>A c.746T>A (p.Leu249Gln) c.3155T>A (p.Leu1052Gln) c.3131T>A (p.Leu1044Gln) c.3098T>A (p.Leu1033Gln) c.3041T>A (p.Leu1014Gln) c.3140T>A (p.Leu1047Gln) c.3116T>A (p.Leu1039Gln) c.2951T>A (p.Leu984Gln) c.3113T>A (p.Leu1038Gln) | |
1 | g.16986887_16986888del | CA915941147 | ATP13A2 | c.3157_3158del (p.Leu1053ValfsTer?) c.3025_3026del (p.Leu1009ValfsTer26) c.3142_3143del (p.Leu1048ValfsTer?) n.1031_1032del c.745_746del (p.Leu249ValfsTer26) c.3157_3158del (p.Leu1053ValfsTer26) c.3154_3155del (p.Leu1052ValfsTer26) c.3142_3143del (p.Leu1048ValfsTer26) c.3130_3131del (p.Leu1044ValfsTer26) c.3097_3098del (p.Leu1033ValfsTer26) c.3040_3041del (p.Leu1014ValfsTer26) c.3139_3140del (p.Leu1047ValfsTer26) c.3115_3116del (p.Leu1039ValfsTer26) c.2950_2951del (p.Leu984ValfsTer26) c.3139_3140del (p.Leu1047ValfsTer?) c.3115_3116del (p.Leu1039ValfsTer?) c.3112_3113del (p.Leu1038ValfsTer?) c.3040_3041del (p.Leu1014ValfsTer?) c.3025_3026del (p.Leu1009ValfsTer?) c.2950_2951del (p.Leu984ValfsTer?) | ClinVar dbSNP gnomAD v4 |
1 | g.16986883G>A | CA416093722 | ATP13A2 | c.3157C>T (p.Leu1053=) c.3025C>T (p.Leu1009=) c.3142C>T (p.Leu1048=) n.1031C>T c.745C>T (p.Leu249=) c.3154C>T (p.Leu1052=) c.3130C>T (p.Leu1044=) c.3097C>T (p.Leu1033=) c.3040C>T (p.Leu1014=) c.3139C>T (p.Leu1047=) c.3115C>T (p.Leu1039=) c.2950C>T (p.Leu984=) c.3112C>T (p.Leu1038=) | |
1 | g.16986883G>C | CA18625744 | ATP13A2 | c.3157C>G (p.Leu1053Val) c.3025C>G (p.Leu1009Val) c.3142C>G (p.Leu1048Val) n.1031C>G c.745C>G (p.Leu249Val) c.3154C>G (p.Leu1052Val) c.3130C>G (p.Leu1044Val) c.3097C>G (p.Leu1033Val) c.3040C>G (p.Leu1014Val) c.3139C>G (p.Leu1047Val) c.3115C>G (p.Leu1039Val) c.2950C>G (p.Leu984Val) c.3112C>G (p.Leu1038Val) | dbSNP |
1 | g.16986883G= | CA1156050482 | ATP13A2 | c.3157C= (p.Leu1053=) c.3025C= (p.Leu1009=) c.3142C= (p.Leu1048=) n.1031C= c.745C= (p.Leu249=) c.3154C= (p.Leu1052=) c.3130C= (p.Leu1044=) c.3097C= (p.Leu1033=) c.3040C= (p.Leu1014=) c.3139C= (p.Leu1047=) c.3115C= (p.Leu1039=) c.2950C= (p.Leu984=) c.3112C= (p.Leu1038=) | |
1 | g.16986883G>T | CA338233593 | ATP13A2 | c.3157C>A (p.Leu1053Met) c.3025C>A (p.Leu1009Met) c.3142C>A (p.Leu1048Met) n.1031C>A c.745C>A (p.Leu249Met) c.3154C>A (p.Leu1052Met) c.3130C>A (p.Leu1044Met) c.3097C>A (p.Leu1033Met) c.3040C>A (p.Leu1014Met) c.3139C>A (p.Leu1047Met) c.3115C>A (p.Leu1039Met) c.2950C>A (p.Leu984Met) c.3112C>A (p.Leu1038Met) | |
1 | g.16986884A= | CA1156050487 | ATP13A2 | c.3156T= (p.Ser1052=) c.3024T= (p.Ser1008=) c.3141T= (p.Ser1047=) n.1030T= c.744T= (p.Ser248=) c.3153T= (p.Ser1051=) c.3129T= (p.Ser1043=) c.3096T= (p.Ser1032=) c.3039T= (p.Ser1013=) c.3138T= (p.Ser1046=) c.3114T= (p.Ser1038=) c.2949T= (p.Ser983=) c.3111T= (p.Ser1037=) | |
1 | g.16986884A>C | CA416093723 | ATP13A2 | c.3156T>G (p.Ser1052=) c.3024T>G (p.Ser1008=) c.3141T>G (p.Ser1047=) n.1030T>G c.744T>G (p.Ser248=) c.3153T>G (p.Ser1051=) c.3129T>G (p.Ser1043=) c.3096T>G (p.Ser1032=) c.3039T>G (p.Ser1013=) c.3138T>G (p.Ser1046=) c.3114T>G (p.Ser1038=) c.2949T>G (p.Ser983=) c.3111T>G (p.Ser1037=) | |
1 | g.16986884A>G | CA416093724 | ATP13A2 | c.3156T>C (p.Ser1052=) c.3024T>C (p.Ser1008=) c.3141T>C (p.Ser1047=) n.1030T>C c.744T>C (p.Ser248=) c.3153T>C (p.Ser1051=) c.3129T>C (p.Ser1043=) c.3096T>C (p.Ser1032=) c.3039T>C (p.Ser1013=) c.3138T>C (p.Ser1046=) c.3114T>C (p.Ser1038=) c.2949T>C (p.Ser983=) c.3111T>C (p.Ser1037=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16986884A>T | CA416093725 | ATP13A2 | c.3156T>A (p.Ser1052=) c.3024T>A (p.Ser1008=) c.3141T>A (p.Ser1047=) n.1030T>A c.744T>A (p.Ser248=) c.3153T>A (p.Ser1051=) c.3129T>A (p.Ser1043=) c.3096T>A (p.Ser1032=) c.3039T>A (p.Ser1013=) c.3138T>A (p.Ser1046=) c.3114T>A (p.Ser1038=) c.2949T>A (p.Ser983=) c.3111T>A (p.Ser1037=) | |
1 | g.16986884dup | CA1156050490 | ATP13A2 | c.3156dup (p.Leu1053SerfsTer?) c.3024dup (p.Leu1009SerfsTer27) c.3141dup (p.Leu1048SerfsTer?) n.1030dup c.744dup (p.Leu249SerfsTer27) c.3156dup (p.Leu1053SerfsTer27) c.3153dup (p.Leu1052SerfsTer27) c.3141dup (p.Leu1048SerfsTer27) c.3129dup (p.Leu1044SerfsTer27) c.3096dup (p.Leu1033SerfsTer27) c.3039dup (p.Leu1014SerfsTer27) c.3138dup (p.Leu1047SerfsTer27) c.3114dup (p.Leu1039SerfsTer27) c.2949dup (p.Leu984SerfsTer27) c.3138dup (p.Leu1047SerfsTer?) c.3114dup (p.Leu1039SerfsTer?) c.3111dup (p.Leu1038SerfsTer?) c.3039dup (p.Leu1014SerfsTer?) c.3024dup (p.Leu1009SerfsTer?) c.2949dup (p.Leu984SerfsTer?) | dbSNP |
1 | g.16986885G>A | CA338233599 | ATP13A2 | c.3155C>T (p.Ser1052Phe) c.3023C>T (p.Ser1008Phe) c.3140C>T (p.Ser1047Phe) n.1029C>T c.743C>T (p.Ser248Phe) c.3152C>T (p.Ser1051Phe) c.3128C>T (p.Ser1043Phe) c.3095C>T (p.Ser1032Phe) c.3038C>T (p.Ser1013Phe) c.3137C>T (p.Ser1046Phe) c.3113C>T (p.Ser1038Phe) c.2948C>T (p.Ser983Phe) c.3110C>T (p.Ser1037Phe) | gnomAD v4 |
1 | g.16986885G>C | CA338233598 | ATP13A2 | c.3155C>G (p.Ser1052Cys) c.3023C>G (p.Ser1008Cys) c.3140C>G (p.Ser1047Cys) n.1029C>G c.743C>G (p.Ser248Cys) c.3152C>G (p.Ser1051Cys) c.3128C>G (p.Ser1043Cys) c.3095C>G (p.Ser1032Cys) c.3038C>G (p.Ser1013Cys) c.3137C>G (p.Ser1046Cys) c.3113C>G (p.Ser1038Cys) c.2948C>G (p.Ser983Cys) c.3110C>G (p.Ser1037Cys) | gnomAD v4 |
1 | g.16986885G>T | CA338233595 | ATP13A2 | c.3155C>A (p.Ser1052Tyr) c.3023C>A (p.Ser1008Tyr) c.3140C>A (p.Ser1047Tyr) n.1029C>A c.743C>A (p.Ser248Tyr) c.3152C>A (p.Ser1051Tyr) c.3128C>A (p.Ser1043Tyr) c.3095C>A (p.Ser1032Tyr) c.3038C>A (p.Ser1013Tyr) c.3137C>A (p.Ser1046Tyr) c.3113C>A (p.Ser1038Tyr) c.2948C>A (p.Ser983Tyr) c.3110C>A (p.Ser1037Tyr) | |
1 | g.16986885_16986888delinsGAGA | CA1156050492 | ATP13A2 | c.3152_3155delinsTCTC (p.Phe1051=) c.3020_3023delinsTCTC (p.Phe1007=) c.3137_3140delinsTCTC (p.Phe1046=) n.1026_1029delinsTCTC c.740_743delinsTCTC (p.Phe247=) c.3149_3152delinsTCTC (p.Phe1050=) c.3125_3128delinsTCTC (p.Phe1042=) c.3092_3095delinsTCTC (p.Phe1031=) c.3035_3038delinsTCTC (p.Phe1012=) c.3134_3137delinsTCTC (p.Phe1045=) c.3110_3113delinsTCTC (p.Phe1037=) c.2945_2948delinsTCTC (p.Phe982=) c.3107_3110delinsTCTC (p.Phe1036=) | |
1 | g.16986886A= | CA1156050496 | ATP13A2 | c.3154T= (p.Ser1052=) c.3022T= (p.Ser1008=) c.3139T= (p.Ser1047=) n.1028T= c.742T= (p.Ser248=) c.3151T= (p.Ser1051=) c.3127T= (p.Ser1043=) c.3094T= (p.Ser1032=) c.3037T= (p.Ser1013=) c.3136T= (p.Ser1046=) c.3112T= (p.Ser1038=) c.2947T= (p.Ser983=) c.3109T= (p.Ser1037=) | |
1 | g.16986886A>C | CA338233602 | ATP13A2 | c.3154T>G (p.Ser1052Ala) c.3022T>G (p.Ser1008Ala) c.3139T>G (p.Ser1047Ala) n.1028T>G c.742T>G (p.Ser248Ala) c.3151T>G (p.Ser1051Ala) c.3127T>G (p.Ser1043Ala) c.3094T>G (p.Ser1032Ala) c.3037T>G (p.Ser1013Ala) c.3136T>G (p.Ser1046Ala) c.3112T>G (p.Ser1038Ala) c.2947T>G (p.Ser983Ala) c.3109T>G (p.Ser1037Ala) | |
1 | g.16986886A>G | CA338233603 | ATP13A2 | c.3154T>C (p.Ser1052Pro) c.3022T>C (p.Ser1008Pro) c.3139T>C (p.Ser1047Pro) n.1028T>C c.742T>C (p.Ser248Pro) c.3151T>C (p.Ser1051Pro) c.3127T>C (p.Ser1043Pro) c.3094T>C (p.Ser1032Pro) c.3037T>C (p.Ser1013Pro) c.3136T>C (p.Ser1046Pro) c.3112T>C (p.Ser1038Pro) c.2947T>C (p.Ser983Pro) c.3109T>C (p.Ser1037Pro) | gnomAD v4 |
1 | g.16986886A>T | CA338233608 | ATP13A2 | c.3154T>A (p.Ser1052Thr) c.3022T>A (p.Ser1008Thr) c.3139T>A (p.Ser1047Thr) n.1028T>A c.742T>A (p.Ser248Thr) c.3151T>A (p.Ser1051Thr) c.3127T>A (p.Ser1043Thr) c.3094T>A (p.Ser1032Thr) c.3037T>A (p.Ser1013Thr) c.3136T>A (p.Ser1046Thr) c.3112T>A (p.Ser1038Thr) c.2947T>A (p.Ser983Thr) c.3109T>A (p.Ser1037Thr) | |
1 | g.16986889_16986891del | CA16043958 | ATP13A2 | c.3152_3154del (p.Phe1051del) c.3020_3022del (p.Phe1007del) c.3137_3139del (p.Phe1046del) n.1026_1028del c.740_742del (p.Phe247del) c.3149_3151del (p.Phe1050del) c.3125_3127del (p.Phe1042del) c.3092_3094del (p.Phe1031del) c.3035_3037del (p.Phe1012del) c.3134_3136del (p.Phe1045del) c.3110_3112del (p.Phe1037del) c.2945_2947del (p.Phe982del) c.3107_3109del (p.Phe1036del) | ClinVar dbSNP gnomAD v4 |
1 | g.16986887G>A | CA416093726 | ATP13A2 | c.3153C>T (p.Phe1051=) c.3021C>T (p.Phe1007=) c.3138C>T (p.Phe1046=) n.1027C>T c.741C>T (p.Phe247=) c.3150C>T (p.Phe1050=) c.3126C>T (p.Phe1042=) c.3093C>T (p.Phe1031=) c.3036C>T (p.Phe1012=) c.3135C>T (p.Phe1045=) c.3111C>T (p.Phe1037=) c.2946C>T (p.Phe982=) c.3108C>T (p.Phe1036=) | |
1 | g.16986887G>C | CA338233614 | ATP13A2 | c.3153C>G (p.Phe1051Leu) c.3021C>G (p.Phe1007Leu) c.3138C>G (p.Phe1046Leu) n.1027C>G c.741C>G (p.Phe247Leu) c.3150C>G (p.Phe1050Leu) c.3126C>G (p.Phe1042Leu) c.3093C>G (p.Phe1031Leu) c.3036C>G (p.Phe1012Leu) c.3135C>G (p.Phe1045Leu) c.3111C>G (p.Phe1037Leu) c.2946C>G (p.Phe982Leu) c.3108C>G (p.Phe1036Leu) | |
1 | g.16986887G= | CA1148475407 | ATP13A2 | c.3153C= (p.Phe1051=) c.3021C= (p.Phe1007=) c.3138C= (p.Phe1046=) n.1027C= c.741C= (p.Phe247=) c.3150C= (p.Phe1050=) c.3126C= (p.Phe1042=) c.3093C= (p.Phe1031=) c.3036C= (p.Phe1012=) c.3135C= (p.Phe1045=) c.3111C= (p.Phe1037=) c.2946C= (p.Phe982=) c.3108C= (p.Phe1036=) | |
1 | g.16986887G>T | CA338233615 | ATP13A2 | c.3153C>A (p.Phe1051Leu) c.3021C>A (p.Phe1007Leu) c.3138C>A (p.Phe1046Leu) n.1027C>A c.741C>A (p.Phe247Leu) c.3150C>A (p.Phe1050Leu) c.3126C>A (p.Phe1042Leu) c.3093C>A (p.Phe1031Leu) c.3036C>A (p.Phe1012Leu) c.3135C>A (p.Phe1045Leu) c.3111C>A (p.Phe1037Leu) c.2946C>A (p.Phe982Leu) c.3108C>A (p.Phe1036Leu) | |
1 | g.16986887dup | CA636588 | ATP13A2 | c.3153dup (p.Ser1052LeufsTer?) c.3021dup (p.Ser1008LeufsTer28) c.3138dup (p.Ser1047LeufsTer?) n.1027dup c.741dup (p.Ser248LeufsTer28) c.3153dup (p.Ser1052LeufsTer28) c.3150dup (p.Ser1051LeufsTer28) c.3138dup (p.Ser1047LeufsTer28) c.3126dup (p.Ser1043LeufsTer28) c.3093dup (p.Ser1032LeufsTer28) c.3036dup (p.Ser1013LeufsTer28) c.3135dup (p.Ser1046LeufsTer28) c.3111dup (p.Ser1038LeufsTer28) c.2946dup (p.Ser983LeufsTer28) c.3135dup (p.Ser1046LeufsTer?) c.3111dup (p.Ser1038LeufsTer?) c.3108dup (p.Ser1037LeufsTer?) c.3036dup (p.Ser1013LeufsTer?) c.3021dup (p.Ser1008LeufsTer?) c.2946dup (p.Ser983LeufsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.16986887_16986889delinsGAA | CA1156050500 | ATP13A2 | c.3151_3153delinsTTC (p.Phe1051=) c.3019_3021delinsTTC (p.Phe1007=) c.3136_3138delinsTTC (p.Phe1046=) n.1025_1027delinsTTC c.739_741delinsTTC (p.Phe247=) c.3148_3150delinsTTC (p.Phe1050=) c.3124_3126delinsTTC (p.Phe1042=) c.3091_3093delinsTTC (p.Phe1031=) c.3034_3036delinsTTC (p.Phe1012=) c.3133_3135delinsTTC (p.Phe1045=) c.3109_3111delinsTTC (p.Phe1037=) c.2944_2946delinsTTC (p.Phe982=) c.3106_3108delinsTTC (p.Phe1036=) | |
1 | g.16986888A>C | CA338233618 | ATP13A2 | c.3152T>G (p.Phe1051Cys) c.3020T>G (p.Phe1007Cys) c.3137T>G (p.Phe1046Cys) n.1026T>G c.740T>G (p.Phe247Cys) c.3149T>G (p.Phe1050Cys) c.3125T>G (p.Phe1042Cys) c.3092T>G (p.Phe1031Cys) c.3035T>G (p.Phe1012Cys) c.3134T>G (p.Phe1045Cys) c.3110T>G (p.Phe1037Cys) c.2945T>G (p.Phe982Cys) c.3107T>G (p.Phe1036Cys) | |
1 | g.16986888A>G | CA338233623 | ATP13A2 | c.3152T>C (p.Phe1051Ser) c.3020T>C (p.Phe1007Ser) c.3137T>C (p.Phe1046Ser) n.1026T>C c.740T>C (p.Phe247Ser) c.3149T>C (p.Phe1050Ser) c.3125T>C (p.Phe1042Ser) c.3092T>C (p.Phe1031Ser) c.3035T>C (p.Phe1012Ser) c.3134T>C (p.Phe1045Ser) c.3110T>C (p.Phe1037Ser) c.2945T>C (p.Phe982Ser) c.3107T>C (p.Phe1036Ser) | |
1 | g.16986888A>T | CA338233624 | ATP13A2 | c.3152T>A (p.Phe1051Tyr) c.3020T>A (p.Phe1007Tyr) c.3137T>A (p.Phe1046Tyr) n.1026T>A c.740T>A (p.Phe247Tyr) c.3149T>A (p.Phe1050Tyr) c.3125T>A (p.Phe1042Tyr) c.3092T>A (p.Phe1031Tyr) c.3035T>A (p.Phe1012Tyr) c.3134T>A (p.Phe1045Tyr) c.3110T>A (p.Phe1037Tyr) c.2945T>A (p.Phe982Tyr) c.3107T>A (p.Phe1036Tyr) | |
1 | g.16986888_16986889del | CA1156050503 | ATP13A2 | c.3151_3152del (p.Phe1051LeufsTer?) c.3019_3020del (p.Phe1007LeufsTer28) c.3136_3137del (p.Phe1046LeufsTer?) n.1025_1026del c.739_740del (p.Phe247LeufsTer28) c.3151_3152del (p.Phe1051LeufsTer28) c.3148_3149del (p.Phe1050LeufsTer28) c.3136_3137del (p.Phe1046LeufsTer28) c.3124_3125del (p.Phe1042LeufsTer28) c.3091_3092del (p.Phe1031LeufsTer28) c.3034_3035del (p.Phe1012LeufsTer28) c.3133_3134del (p.Phe1045LeufsTer28) c.3109_3110del (p.Phe1037LeufsTer28) c.2944_2945del (p.Phe982LeufsTer28) c.3133_3134del (p.Phe1045LeufsTer?) c.3109_3110del (p.Phe1037LeufsTer?) c.3106_3107del (p.Phe1036LeufsTer?) c.3034_3035del (p.Phe1012LeufsTer?) c.3019_3020del (p.Phe1007LeufsTer?) c.2944_2945del (p.Phe982LeufsTer?) | ClinVar dbSNP |
1 | g.16986889del | CA2643671211 | ATP13A2 | c.3152del (p.Phe1051SerfsTer?) c.3020del (p.Phe1007SerfsTer?) c.3137del (p.Phe1046SerfsTer?) n.1026del c.740del (p.Phe247SerfsTer?) c.3149del (p.Phe1050SerfsTer?) c.3125del (p.Phe1042SerfsTer?) c.3092del (p.Phe1031SerfsTer?) c.3035del (p.Phe1012SerfsTer?) c.3134del (p.Phe1045SerfsTer?) c.3110del (p.Phe1037SerfsTer?) c.2945del (p.Phe982SerfsTer?) c.3107del (p.Phe1036SerfsTer?) | gnomAD v4 |
1 | g.16986889A= | CA1156050507 | ATP13A2 | c.3151T= (p.Phe1051=) c.3019T= (p.Phe1007=) c.3136T= (p.Phe1046=) n.1025T= c.739T= (p.Phe247=) c.3148T= (p.Phe1050=) c.3124T= (p.Phe1042=) c.3091T= (p.Phe1031=) c.3034T= (p.Phe1012=) c.3133T= (p.Phe1045=) c.3109T= (p.Phe1037=) c.2944T= (p.Phe982=) c.3106T= (p.Phe1036=) | |
1 | g.16986889A>C | CA338233625 | ATP13A2 | c.3151T>G (p.Phe1051Val) c.3019T>G (p.Phe1007Val) c.3136T>G (p.Phe1046Val) n.1025T>G c.739T>G (p.Phe247Val) c.3148T>G (p.Phe1050Val) c.3124T>G (p.Phe1042Val) c.3091T>G (p.Phe1031Val) c.3034T>G (p.Phe1012Val) c.3133T>G (p.Phe1045Val) c.3109T>G (p.Phe1037Val) c.2944T>G (p.Phe982Val) c.3106T>G (p.Phe1036Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.16986889A>G | CA338233627 | ATP13A2 | c.3151T>C (p.Phe1051Leu) c.3019T>C (p.Phe1007Leu) c.3136T>C (p.Phe1046Leu) n.1025T>C c.739T>C (p.Phe247Leu) c.3148T>C (p.Phe1050Leu) c.3124T>C (p.Phe1042Leu) c.3091T>C (p.Phe1031Leu) c.3034T>C (p.Phe1012Leu) c.3133T>C (p.Phe1045Leu) c.3109T>C (p.Phe1037Leu) c.2944T>C (p.Phe982Leu) c.3106T>C (p.Phe1036Leu) | |
1 | g.16986889A>T | CA338233628 | ATP13A2 | c.3151T>A (p.Phe1051Ile) c.3019T>A (p.Phe1007Ile) c.3136T>A (p.Phe1046Ile) n.1025T>A c.739T>A (p.Phe247Ile) c.3148T>A (p.Phe1050Ile) c.3124T>A (p.Phe1042Ile) c.3091T>A (p.Phe1031Ile) c.3034T>A (p.Phe1012Ile) c.3133T>A (p.Phe1045Ile) c.3109T>A (p.Phe1037Ile) c.2944T>A (p.Phe982Ile) c.3106T>A (p.Phe1036Ile) | |
1 | g.16986890G>A | CA416093727 | ATP13A2 | c.3150C>T (p.Val1050=) c.3018C>T (p.Val1006=) c.3135C>T (p.Val1045=) n.1024C>T c.738C>T (p.Val246=) c.3147C>T (p.Val1049=) c.3123C>T (p.Val1041=) c.3090C>T (p.Val1030=) c.3033C>T (p.Val1011=) c.3132C>T (p.Val1044=) c.3108C>T (p.Val1036=) c.2943C>T (p.Val981=) c.3105C>T (p.Val1035=) | gnomAD v4 |
1 | g.16986890G>C | CA416093728 | ATP13A2 | c.3150C>G (p.Val1050=) c.3018C>G (p.Val1006=) c.3135C>G (p.Val1045=) n.1024C>G c.738C>G (p.Val246=) c.3147C>G (p.Val1049=) c.3123C>G (p.Val1041=) c.3090C>G (p.Val1030=) c.3033C>G (p.Val1011=) c.3132C>G (p.Val1044=) c.3108C>G (p.Val1036=) c.2943C>G (p.Val981=) c.3105C>G (p.Val1035=) | COSMIC COSMIC |
1 | g.16986890G>T | CA416093729 | ATP13A2 | c.3150C>A (p.Val1050=) c.3018C>A (p.Val1006=) c.3135C>A (p.Val1045=) n.1024C>A c.738C>A (p.Val246=) c.3147C>A (p.Val1049=) c.3123C>A (p.Val1041=) c.3090C>A (p.Val1030=) c.3033C>A (p.Val1011=) c.3132C>A (p.Val1044=) c.3108C>A (p.Val1036=) c.2943C>A (p.Val981=) c.3105C>A (p.Val1035=) | |
1 | g.16986891A>C | CA338233634 | ATP13A2 | c.3149T>G (p.Val1050Gly) c.3017T>G (p.Val1006Gly) c.3134T>G (p.Val1045Gly) n.1023T>G c.737T>G (p.Val246Gly) c.3146T>G (p.Val1049Gly) c.3122T>G (p.Val1041Gly) c.3089T>G (p.Val1030Gly) c.3032T>G (p.Val1011Gly) c.3131T>G (p.Val1044Gly) c.3107T>G (p.Val1036Gly) c.2942T>G (p.Val981Gly) c.3104T>G (p.Val1035Gly) | |
1 | g.16986891A>G | CA338233633 | ATP13A2 | c.3149T>C (p.Val1050Ala) c.3017T>C (p.Val1006Ala) c.3134T>C (p.Val1045Ala) n.1023T>C c.737T>C (p.Val246Ala) c.3146T>C (p.Val1049Ala) c.3122T>C (p.Val1041Ala) c.3089T>C (p.Val1030Ala) c.3032T>C (p.Val1011Ala) c.3131T>C (p.Val1044Ala) c.3107T>C (p.Val1036Ala) c.2942T>C (p.Val981Ala) c.3104T>C (p.Val1035Ala) | |
1 | g.16986891A>T | CA338233630 | ATP13A2 | c.3149T>A (p.Val1050Asp) c.3017T>A (p.Val1006Asp) c.3134T>A (p.Val1045Asp) n.1023T>A c.737T>A (p.Val246Asp) c.3146T>A (p.Val1049Asp) c.3122T>A (p.Val1041Asp) c.3089T>A (p.Val1030Asp) c.3032T>A (p.Val1011Asp) c.3131T>A (p.Val1044Asp) c.3107T>A (p.Val1036Asp) c.2942T>A (p.Val981Asp) c.3104T>A (p.Val1035Asp) | gnomAD v4 |
1 | g.16986892C>A | CA338233636 | ATP13A2 | c.3148G>T (p.Val1050Phe) c.3016G>T (p.Val1006Phe) c.3133G>T (p.Val1045Phe) n.1022G>T c.736G>T (p.Val246Phe) c.3145G>T (p.Val1049Phe) c.3121G>T (p.Val1041Phe) c.3088G>T (p.Val1030Phe) c.3031G>T (p.Val1011Phe) c.3130G>T (p.Val1044Phe) c.3106G>T (p.Val1036Phe) c.2941G>T (p.Val981Phe) c.3103G>T (p.Val1035Phe) | |
1 | g.16986892C>G | CA338233637 | ATP13A2 | c.3148G>C (p.Val1050Leu) c.3016G>C (p.Val1006Leu) c.3133G>C (p.Val1045Leu) n.1022G>C c.736G>C (p.Val246Leu) c.3145G>C (p.Val1049Leu) c.3121G>C (p.Val1041Leu) c.3088G>C (p.Val1030Leu) c.3031G>C (p.Val1011Leu) c.3130G>C (p.Val1044Leu) c.3106G>C (p.Val1036Leu) c.2941G>C (p.Val981Leu) c.3103G>C (p.Val1035Leu) | |
1 | g.16986892C>T | CA338233639 | ATP13A2 | c.3148G>A (p.Val1050Ile) c.3016G>A (p.Val1006Ile) c.3133G>A (p.Val1045Ile) n.1022G>A c.736G>A (p.Val246Ile) c.3145G>A (p.Val1049Ile) c.3121G>A (p.Val1041Ile) c.3088G>A (p.Val1030Ile) c.3031G>A (p.Val1011Ile) c.3130G>A (p.Val1044Ile) c.3106G>A (p.Val1036Ile) c.2941G>A (p.Val981Ile) c.3103G>A (p.Val1035Ile) | |
1 | g.16986893C>A | CA416093731 | ATP13A2 | c.3147G>T (p.Val1049=) c.3015G>T (p.Val1005=) c.3132G>T (p.Val1044=) n.1021G>T c.735G>T (p.Val245=) c.3144G>T (p.Val1048=) c.3120G>T (p.Val1040=) c.3087G>T (p.Val1029=) c.3030G>T (p.Val1010=) c.3129G>T (p.Val1043=) c.3105G>T (p.Val1035=) c.2940G>T (p.Val980=) c.3102G>T (p.Val1034=) | |
1 | g.16986893C>G | CA416093732 | ATP13A2 | c.3147G>C (p.Val1049=) c.3015G>C (p.Val1005=) c.3132G>C (p.Val1044=) n.1021G>C c.735G>C (p.Val245=) c.3144G>C (p.Val1048=) c.3120G>C (p.Val1040=) c.3087G>C (p.Val1029=) c.3030G>C (p.Val1010=) c.3129G>C (p.Val1043=) c.3105G>C (p.Val1035=) c.2940G>C (p.Val980=) c.3102G>C (p.Val1034=) | |
1 | g.16986893C>T | CA416093733 | ATP13A2 | c.3147G>A (p.Val1049=) c.3015G>A (p.Val1005=) c.3132G>A (p.Val1044=) n.1021G>A c.735G>A (p.Val245=) c.3144G>A (p.Val1048=) c.3120G>A (p.Val1040=) c.3087G>A (p.Val1029=) c.3030G>A (p.Val1010=) c.3129G>A (p.Val1043=) c.3105G>A (p.Val1035=) c.2940G>A (p.Val980=) c.3102G>A (p.Val1034=) | |
1 | g.16986894A>C | CA338233641 | ATP13A2 | c.3146T>G (p.Val1049Gly) c.3014T>G (p.Val1005Gly) c.3131T>G (p.Val1044Gly) n.1020T>G c.734T>G (p.Val245Gly) c.3143T>G (p.Val1048Gly) c.3119T>G (p.Val1040Gly) c.3086T>G (p.Val1029Gly) c.3029T>G (p.Val1010Gly) c.3128T>G (p.Val1043Gly) c.3104T>G (p.Val1035Gly) c.2939T>G (p.Val980Gly) c.3101T>G (p.Val1034Gly) | |
1 | g.16986894A>G | CA338233642 | ATP13A2 | c.3146T>C (p.Val1049Ala) c.3014T>C (p.Val1005Ala) c.3131T>C (p.Val1044Ala) n.1020T>C c.734T>C (p.Val245Ala) c.3143T>C (p.Val1048Ala) c.3119T>C (p.Val1040Ala) c.3086T>C (p.Val1029Ala) c.3029T>C (p.Val1010Ala) c.3128T>C (p.Val1043Ala) c.3104T>C (p.Val1035Ala) c.2939T>C (p.Val980Ala) c.3101T>C (p.Val1034Ala) | |
1 | g.16986894A>T | CA338233646 | ATP13A2 | c.3146T>A (p.Val1049Glu) c.3014T>A (p.Val1005Glu) c.3131T>A (p.Val1044Glu) n.1020T>A c.734T>A (p.Val245Glu) c.3143T>A (p.Val1048Glu) c.3119T>A (p.Val1040Glu) c.3086T>A (p.Val1029Glu) c.3029T>A (p.Val1010Glu) c.3128T>A (p.Val1043Glu) c.3104T>A (p.Val1035Glu) c.2939T>A (p.Val980Glu) c.3101T>A (p.Val1034Glu) | |
1 | g.16986895C>A | CA338233647 | ATP13A2 | c.3145G>T (p.Val1049Leu) c.3013G>T (p.Val1005Leu) c.3130G>T (p.Val1044Leu) n.1019G>T c.733G>T (p.Val245Leu) c.3142G>T (p.Val1048Leu) c.3118G>T (p.Val1040Leu) c.3085G>T (p.Val1029Leu) c.3028G>T (p.Val1010Leu) c.3127G>T (p.Val1043Leu) c.3103G>T (p.Val1035Leu) c.2938G>T (p.Val980Leu) c.3100G>T (p.Val1034Leu) | |
1 | g.16986895C= | CA1156050512 | ATP13A2 | c.3145G= (p.Val1049=) c.3013G= (p.Val1005=) c.3130G= (p.Val1044=) n.1019G= c.733G= (p.Val245=) c.3142G= (p.Val1048=) c.3118G= (p.Val1040=) c.3085G= (p.Val1029=) c.3028G= (p.Val1010=) c.3127G= (p.Val1043=) c.3103G= (p.Val1035=) c.2938G= (p.Val980=) c.3100G= (p.Val1034=) | |
1 | g.16986895C>G | CA338233648 | ATP13A2 | c.3145G>C (p.Val1049Leu) c.3013G>C (p.Val1005Leu) c.3130G>C (p.Val1044Leu) n.1019G>C c.733G>C (p.Val245Leu) c.3142G>C (p.Val1048Leu) c.3118G>C (p.Val1040Leu) c.3085G>C (p.Val1029Leu) c.3028G>C (p.Val1010Leu) c.3127G>C (p.Val1043Leu) c.3103G>C (p.Val1035Leu) c.2938G>C (p.Val980Leu) c.3100G>C (p.Val1034Leu) | |
1 | g.16986895C>T | CA636589 | ATP13A2 | c.3145G>A (p.Val1049Met) c.3013G>A (p.Val1005Met) c.3130G>A (p.Val1044Met) n.1019G>A c.733G>A (p.Val245Met) c.3142G>A (p.Val1048Met) c.3118G>A (p.Val1040Met) c.3085G>A (p.Val1029Met) c.3028G>A (p.Val1010Met) c.3127G>A (p.Val1043Met) c.3103G>A (p.Val1035Met) c.2938G>A (p.Val980Met) c.3100G>A (p.Val1034Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16986896G>A | CA416093735 | ATP13A2 | c.3144C>T (p.Thr1048=) c.3012C>T (p.Thr1004=) c.3129C>T (p.Thr1043=) n.1018C>T c.732C>T (p.Thr244=) c.3141C>T (p.Thr1047=) c.3117C>T (p.Thr1039=) c.3084C>T (p.Thr1028=) c.3027C>T (p.Thr1009=) c.3126C>T (p.Thr1042=) c.3102C>T (p.Thr1034=) c.2937C>T (p.Thr979=) c.3099C>T (p.Thr1033=) | ClinVar dbSNP gnomAD v4 |
1 | g.16986896G>C | CA151957 | ATP13A2 | c.3144C>G (p.Thr1048=) c.3012C>G (p.Thr1004=) c.3129C>G (p.Thr1043=) n.1018C>G c.732C>G (p.Thr244=) c.3141C>G (p.Thr1047=) c.3117C>G (p.Thr1039=) c.3084C>G (p.Thr1028=) c.3027C>G (p.Thr1009=) c.3126C>G (p.Thr1042=) c.3102C>G (p.Thr1034=) c.2937C>G (p.Thr979=) c.3099C>G (p.Thr1033=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16986896G= | CA1140633704 | ATP13A2 | c.3144C= (p.Thr1048=) c.3012C= (p.Thr1004=) c.3129C= (p.Thr1043=) n.1018C= c.732C= (p.Thr244=) c.3141C= (p.Thr1047=) c.3117C= (p.Thr1039=) c.3084C= (p.Thr1028=) c.3027C= (p.Thr1009=) c.3126C= (p.Thr1042=) c.3102C= (p.Thr1034=) c.2937C= (p.Thr979=) c.3099C= (p.Thr1033=) | |
1 | g.16986896G>T | CA416093736 | ATP13A2 | c.3144C>A (p.Thr1048=) c.3012C>A (p.Thr1004=) c.3129C>A (p.Thr1043=) n.1018C>A c.732C>A (p.Thr244=) c.3141C>A (p.Thr1047=) c.3117C>A (p.Thr1039=) c.3084C>A (p.Thr1028=) c.3027C>A (p.Thr1009=) c.3126C>A (p.Thr1042=) c.3102C>A (p.Thr1034=) c.2937C>A (p.Thr979=) c.3099C>A (p.Thr1033=) | dbSNP gnomAD v4 |
1 | g.16986897G>A | CA338233654 | ATP13A2 | c.3143C>T (p.Thr1048Ile) c.3011C>T (p.Thr1004Ile) c.3128C>T (p.Thr1043Ile) n.1017C>T c.731C>T (p.Thr244Ile) c.3140C>T (p.Thr1047Ile) c.3116C>T (p.Thr1039Ile) c.3083C>T (p.Thr1028Ile) c.3026C>T (p.Thr1009Ile) c.3125C>T (p.Thr1042Ile) c.3101C>T (p.Thr1034Ile) c.2936C>T (p.Thr979Ile) c.3098C>T (p.Thr1033Ile) | |
1 | g.16986897G>C | CA338233655 | ATP13A2 | c.3143C>G (p.Thr1048Ser) c.3011C>G (p.Thr1004Ser) c.3128C>G (p.Thr1043Ser) n.1017C>G c.731C>G (p.Thr244Ser) c.3140C>G (p.Thr1047Ser) c.3116C>G (p.Thr1039Ser) c.3083C>G (p.Thr1028Ser) c.3026C>G (p.Thr1009Ser) c.3125C>G (p.Thr1042Ser) c.3101C>G (p.Thr1034Ser) c.2936C>G (p.Thr979Ser) c.3098C>G (p.Thr1033Ser) | |
1 | g.16986897G>T | CA338233656 | ATP13A2 | c.3143C>A (p.Thr1048Asn) c.3011C>A (p.Thr1004Asn) c.3128C>A (p.Thr1043Asn) n.1017C>A c.731C>A (p.Thr244Asn) c.3140C>A (p.Thr1047Asn) c.3116C>A (p.Thr1039Asn) c.3083C>A (p.Thr1028Asn) c.3026C>A (p.Thr1009Asn) c.3125C>A (p.Thr1042Asn) c.3101C>A (p.Thr1034Asn) c.2936C>A (p.Thr979Asn) c.3098C>A (p.Thr1033Asn) | |
1 | g.16986898T>A | CA338233658 | ATP13A2 | c.3142A>T (p.Thr1048Ser) c.3010A>T (p.Thr1004Ser) c.3127A>T (p.Thr1043Ser) n.1016A>T c.730A>T (p.Thr244Ser) c.3139A>T (p.Thr1047Ser) c.3115A>T (p.Thr1039Ser) c.3082A>T (p.Thr1028Ser) c.3025A>T (p.Thr1009Ser) c.3124A>T (p.Thr1042Ser) c.3100A>T (p.Thr1034Ser) c.2935A>T (p.Thr979Ser) c.3097A>T (p.Thr1033Ser) | |
1 | g.16986898T>C | CA338233659 | ATP13A2 | c.3142A>G (p.Thr1048Ala) c.3010A>G (p.Thr1004Ala) c.3127A>G (p.Thr1043Ala) n.1016A>G c.730A>G (p.Thr244Ala) c.3139A>G (p.Thr1047Ala) c.3115A>G (p.Thr1039Ala) c.3082A>G (p.Thr1028Ala) c.3025A>G (p.Thr1009Ala) c.3124A>G (p.Thr1042Ala) c.3100A>G (p.Thr1034Ala) c.2935A>G (p.Thr979Ala) c.3097A>G (p.Thr1033Ala) | |
1 | g.16986898T>G | CA338233657 | ATP13A2 | c.3142A>C (p.Thr1048Pro) c.3010A>C (p.Thr1004Pro) c.3127A>C (p.Thr1043Pro) n.1016A>C c.730A>C (p.Thr244Pro) c.3139A>C (p.Thr1047Pro) c.3115A>C (p.Thr1039Pro) c.3082A>C (p.Thr1028Pro) c.3025A>C (p.Thr1009Pro) c.3124A>C (p.Thr1042Pro) c.3100A>C (p.Thr1034Pro) c.2935A>C (p.Thr979Pro) c.3097A>C (p.Thr1033Pro) | |
1 | g.16986899G>A | CA416093743 | ATP13A2 | c.3141C>T (p.Asn1047=) c.3009C>T (p.Asn1003=) c.3126C>T (p.Asn1042=) n.1015C>T c.729C>T (p.Asn243=) c.3138C>T (p.Asn1046=) c.3114C>T (p.Asn1038=) c.3081C>T (p.Asn1027=) c.3024C>T (p.Asn1008=) c.3123C>T (p.Asn1041=) c.3099C>T (p.Asn1033=) c.2934C>T (p.Asn978=) c.3096C>T (p.Asn1032=) | dbSNP |
1 | g.16986899G>C | CA338233662 | ATP13A2 | c.3141C>G (p.Asn1047Lys) c.3009C>G (p.Asn1003Lys) c.3126C>G (p.Asn1042Lys) n.1015C>G c.729C>G (p.Asn243Lys) c.3138C>G (p.Asn1046Lys) c.3114C>G (p.Asn1038Lys) c.3081C>G (p.Asn1027Lys) c.3024C>G (p.Asn1008Lys) c.3123C>G (p.Asn1041Lys) c.3099C>G (p.Asn1033Lys) c.2934C>G (p.Asn978Lys) c.3096C>G (p.Asn1032Lys) | |
1 | g.16986899G= | CA1156050524 | ATP13A2 | c.3141C= (p.Asn1047=) c.3009C= (p.Asn1003=) c.3126C= (p.Asn1042=) n.1015C= c.729C= (p.Asn243=) c.3138C= (p.Asn1046=) c.3114C= (p.Asn1038=) c.3081C= (p.Asn1027=) c.3024C= (p.Asn1008=) c.3123C= (p.Asn1041=) c.3099C= (p.Asn1033=) c.2934C= (p.Asn978=) c.3096C= (p.Asn1032=) | |
1 | g.16986899G>T | CA338233671 | ATP13A2 | c.3141C>A (p.Asn1047Lys) c.3009C>A (p.Asn1003Lys) c.3126C>A (p.Asn1042Lys) n.1015C>A c.729C>A (p.Asn243Lys) c.3138C>A (p.Asn1046Lys) c.3114C>A (p.Asn1038Lys) c.3081C>A (p.Asn1027Lys) c.3024C>A (p.Asn1008Lys) c.3123C>A (p.Asn1041Lys) c.3099C>A (p.Asn1033Lys) c.2934C>A (p.Asn978Lys) c.3096C>A (p.Asn1032Lys) | |
1 | g.16986900T>A | CA338233674 | ATP13A2 | c.3140A>T (p.Asn1047Ile) c.3008A>T (p.Asn1003Ile) c.3125A>T (p.Asn1042Ile) n.1014A>T c.728A>T (p.Asn243Ile) c.3137A>T (p.Asn1046Ile) c.3113A>T (p.Asn1038Ile) c.3080A>T (p.Asn1027Ile) c.3023A>T (p.Asn1008Ile) c.3122A>T (p.Asn1041Ile) c.3098A>T (p.Asn1033Ile) c.2933A>T (p.Asn978Ile) c.3095A>T (p.Asn1032Ile) | |
1 | g.16986900T>C | CA338233677 | ATP13A2 | c.3140A>G (p.Asn1047Ser) c.3008A>G (p.Asn1003Ser) c.3125A>G (p.Asn1042Ser) n.1014A>G c.728A>G (p.Asn243Ser) c.3137A>G (p.Asn1046Ser) c.3113A>G (p.Asn1038Ser) c.3080A>G (p.Asn1027Ser) c.3023A>G (p.Asn1008Ser) c.3122A>G (p.Asn1041Ser) c.3098A>G (p.Asn1033Ser) c.2933A>G (p.Asn978Ser) c.3095A>G (p.Asn1032Ser) | |
1 | g.16986900T>G | CA338233678 | ATP13A2 | c.3140A>C (p.Asn1047Thr) c.3008A>C (p.Asn1003Thr) c.3125A>C (p.Asn1042Thr) n.1014A>C c.728A>C (p.Asn243Thr) c.3137A>C (p.Asn1046Thr) c.3113A>C (p.Asn1038Thr) c.3080A>C (p.Asn1027Thr) c.3023A>C (p.Asn1008Thr) c.3122A>C (p.Asn1041Thr) c.3098A>C (p.Asn1033Thr) c.2933A>C (p.Asn978Thr) c.3095A>C (p.Asn1032Thr) | |
1 | g.16986901T>A | CA338233681 | ATP13A2 | c.3139A>T (p.Asn1047Tyr) c.3007A>T (p.Asn1003Tyr) c.3124A>T (p.Asn1042Tyr) n.1013A>T c.727A>T (p.Asn243Tyr) c.3136A>T (p.Asn1046Tyr) c.3112A>T (p.Asn1038Tyr) c.3079A>T (p.Asn1027Tyr) c.3022A>T (p.Asn1008Tyr) c.3121A>T (p.Asn1041Tyr) c.3097A>T (p.Asn1033Tyr) c.2932A>T (p.Asn978Tyr) c.3094A>T (p.Asn1032Tyr) | |
1 | g.16986901T>C | CA338233683 | ATP13A2 | c.3139A>G (p.Asn1047Asp) c.3007A>G (p.Asn1003Asp) c.3124A>G (p.Asn1042Asp) n.1013A>G c.727A>G (p.Asn243Asp) c.3136A>G (p.Asn1046Asp) c.3112A>G (p.Asn1038Asp) c.3079A>G (p.Asn1027Asp) c.3022A>G (p.Asn1008Asp) c.3121A>G (p.Asn1041Asp) c.3097A>G (p.Asn1033Asp) c.2932A>G (p.Asn978Asp) c.3094A>G (p.Asn1032Asp) | |
1 | g.16986901T>G | CA338233684 | ATP13A2 | c.3139A>C (p.Asn1047His) c.3007A>C (p.Asn1003His) c.3124A>C (p.Asn1042His) n.1013A>C c.727A>C (p.Asn243His) c.3136A>C (p.Asn1046His) c.3112A>C (p.Asn1038His) c.3079A>C (p.Asn1027His) c.3022A>C (p.Asn1008His) c.3121A>C (p.Asn1041His) c.3097A>C (p.Asn1033His) c.2932A>C (p.Asn978His) c.3094A>C (p.Asn1032His) | |
1 | g.16986902C>A | CA338233685 | ATP13A2 | c.3138G>T (p.Glu1046Asp) c.3006G>T (p.Glu1002Asp) c.3123G>T (p.Glu1041Asp) n.1012G>T c.726G>T (p.Glu242Asp) c.3135G>T (p.Glu1045Asp) c.3111G>T (p.Glu1037Asp) c.3078G>T (p.Glu1026Asp) c.3021G>T (p.Glu1007Asp) c.3120G>T (p.Glu1040Asp) c.3096G>T (p.Glu1032Asp) c.2931G>T (p.Glu977Asp) c.3093G>T (p.Glu1031Asp) | |
1 | g.16986902C>G | CA338233689 | ATP13A2 | c.3138G>C (p.Glu1046Asp) c.3006G>C (p.Glu1002Asp) c.3123G>C (p.Glu1041Asp) n.1012G>C c.726G>C (p.Glu242Asp) c.3135G>C (p.Glu1045Asp) c.3111G>C (p.Glu1037Asp) c.3078G>C (p.Glu1026Asp) c.3021G>C (p.Glu1007Asp) c.3120G>C (p.Glu1040Asp) c.3096G>C (p.Glu1032Asp) c.2931G>C (p.Glu977Asp) c.3093G>C (p.Glu1031Asp) | COSMIC COSMIC |
1 | g.16986902C>T | CA416093746 | ATP13A2 | c.3138G>A (p.Glu1046=) c.3006G>A (p.Glu1002=) c.3123G>A (p.Glu1041=) n.1012G>A c.726G>A (p.Glu242=) c.3135G>A (p.Glu1045=) c.3111G>A (p.Glu1037=) c.3078G>A (p.Glu1026=) c.3021G>A (p.Glu1007=) c.3120G>A (p.Glu1040=) c.3096G>A (p.Glu1032=) c.2931G>A (p.Glu977=) c.3093G>A (p.Glu1031=) | gnomAD v4 |
1 | g.16986903T>A | CA338233691 | ATP13A2 | c.3137A>T (p.Glu1046Val) c.3005A>T (p.Glu1002Val) c.3122A>T (p.Glu1041Val) n.1011A>T c.725A>T (p.Glu242Val) c.3134A>T (p.Glu1045Val) c.3110A>T (p.Glu1037Val) c.3077A>T (p.Glu1026Val) c.3020A>T (p.Glu1007Val) c.3119A>T (p.Glu1040Val) c.3095A>T (p.Glu1032Val) c.2930A>T (p.Glu977Val) c.3092A>T (p.Glu1031Val) | |
1 | g.16986903T>C | CA338233694 | ATP13A2 | c.3137A>G (p.Glu1046Gly) c.3005A>G (p.Glu1002Gly) c.3122A>G (p.Glu1041Gly) n.1011A>G c.725A>G (p.Glu242Gly) c.3134A>G (p.Glu1045Gly) c.3110A>G (p.Glu1037Gly) c.3077A>G (p.Glu1026Gly) c.3020A>G (p.Glu1007Gly) c.3119A>G (p.Glu1040Gly) c.3095A>G (p.Glu1032Gly) c.2930A>G (p.Glu977Gly) c.3092A>G (p.Glu1031Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16986903T>G | CA338233695 | ATP13A2 | c.3137A>C (p.Glu1046Ala) c.3005A>C (p.Glu1002Ala) c.3122A>C (p.Glu1041Ala) n.1011A>C c.725A>C (p.Glu242Ala) c.3134A>C (p.Glu1045Ala) c.3110A>C (p.Glu1037Ala) c.3077A>C (p.Glu1026Ala) c.3020A>C (p.Glu1007Ala) c.3119A>C (p.Glu1040Ala) c.3095A>C (p.Glu1032Ala) c.2930A>C (p.Glu977Ala) c.3092A>C (p.Glu1031Ala) | |
1 | g.16986903T= | CA1156050530 | ATP13A2 | c.3137A= (p.Glu1046=) c.3005A= (p.Glu1002=) c.3122A= (p.Glu1041=) n.1011A= c.725A= (p.Glu242=) c.3134A= (p.Glu1045=) c.3110A= (p.Glu1037=) c.3077A= (p.Glu1026=) c.3020A= (p.Glu1007=) c.3119A= (p.Glu1040=) c.3095A= (p.Glu1032=) c.2930A= (p.Glu977=) c.3092A= (p.Glu1031=) | |
1 | g.16986904C>A | CA338233699 | ATP13A2 | c.3136G>T (p.Glu1046Ter) c.3004G>T (p.Glu1002Ter) c.3121G>T (p.Glu1041Ter) n.1010G>T c.724G>T (p.Glu242Ter) c.3133G>T (p.Glu1045Ter) c.3109G>T (p.Glu1037Ter) c.3076G>T (p.Glu1026Ter) c.3019G>T (p.Glu1007Ter) c.3118G>T (p.Glu1040Ter) c.3094G>T (p.Glu1032Ter) c.2929G>T (p.Glu977Ter) c.3091G>T (p.Glu1031Ter) | ClinVar dbSNP |
1 | g.16986904C= | CA1156050534 | ATP13A2 | c.3136G= (p.Glu1046=) c.3004G= (p.Glu1002=) c.3121G= (p.Glu1041=) n.1010G= c.724G= (p.Glu242=) c.3133G= (p.Glu1045=) c.3109G= (p.Glu1037=) c.3076G= (p.Glu1026=) c.3019G= (p.Glu1007=) c.3118G= (p.Glu1040=) c.3094G= (p.Glu1032=) c.2929G= (p.Glu977=) c.3091G= (p.Glu1031=) | |
1 | g.16986904C>G | CA338233707 | ATP13A2 | c.3136G>C (p.Glu1046Gln) c.3004G>C (p.Glu1002Gln) c.3121G>C (p.Glu1041Gln) n.1010G>C c.724G>C (p.Glu242Gln) c.3133G>C (p.Glu1045Gln) c.3109G>C (p.Glu1037Gln) c.3076G>C (p.Glu1026Gln) c.3019G>C (p.Glu1007Gln) c.3118G>C (p.Glu1040Gln) c.3094G>C (p.Glu1032Gln) c.2929G>C (p.Glu977Gln) c.3091G>C (p.Glu1031Gln) | |
1 | g.16986904C>T | CA338233700 | ATP13A2 | c.3136G>A (p.Glu1046Lys) c.3004G>A (p.Glu1002Lys) c.3121G>A (p.Glu1041Lys) n.1010G>A c.724G>A (p.Glu242Lys) c.3133G>A (p.Glu1045Lys) c.3109G>A (p.Glu1037Lys) c.3076G>A (p.Glu1026Lys) c.3019G>A (p.Glu1007Lys) c.3118G>A (p.Glu1040Lys) c.3094G>A (p.Glu1032Lys) c.2929G>A (p.Glu977Lys) c.3091G>A (p.Glu1031Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16986905del | CA2586964000 | ATP13A2 | c.3135del (p.Tyr1045Ter) c.3003del (p.Tyr1001Ter) c.3120del (p.Tyr1040Ter) n.1009del c.723del (p.Tyr241Ter) c.3132del (p.Tyr1044Ter) c.3108del (p.Tyr1036Ter) c.3075del (p.Tyr1025Ter) c.3018del (p.Tyr1006Ter) c.3117del (p.Tyr1039Ter) c.3093del (p.Tyr1031Ter) c.2928del (p.Tyr976Ter) c.3090del (p.Tyr1030Ter) | |
1 | g.16986905G>A | CA18625785 | ATP13A2 | c.3135C>T (p.Tyr1045=) c.3003C>T (p.Tyr1001=) c.3120C>T (p.Tyr1040=) n.1009C>T c.723C>T (p.Tyr241=) c.3132C>T (p.Tyr1044=) c.3108C>T (p.Tyr1036=) c.3075C>T (p.Tyr1025=) c.3018C>T (p.Tyr1006=) c.3117C>T (p.Tyr1039=) c.3093C>T (p.Tyr1031=) c.2928C>T (p.Tyr976=) c.3090C>T (p.Tyr1030=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.16986905G>C | CA338233719 | ATP13A2 | c.3135C>G (p.Tyr1045Ter) c.3003C>G (p.Tyr1001Ter) c.3120C>G (p.Tyr1040Ter) n.1009C>G c.723C>G (p.Tyr241Ter) c.3132C>G (p.Tyr1044Ter) c.3108C>G (p.Tyr1036Ter) c.3075C>G (p.Tyr1025Ter) c.3018C>G (p.Tyr1006Ter) c.3117C>G (p.Tyr1039Ter) c.3093C>G (p.Tyr1031Ter) c.2928C>G (p.Tyr976Ter) c.3090C>G (p.Tyr1030Ter) | |
1 | g.16986905G= | CA1156050537 | ATP13A2 | c.3135C= (p.Tyr1045=) c.3003C= (p.Tyr1001=) c.3120C= (p.Tyr1040=) n.1009C= c.723C= (p.Tyr241=) c.3132C= (p.Tyr1044=) c.3108C= (p.Tyr1036=) c.3075C= (p.Tyr1025=) c.3018C= (p.Tyr1006=) c.3117C= (p.Tyr1039=) c.3093C= (p.Tyr1031=) c.2928C= (p.Tyr976=) c.3090C= (p.Tyr1030=) | |
1 | g.16986905G>T | CA338233721 | ATP13A2 | c.3135C>A (p.Tyr1045Ter) c.3003C>A (p.Tyr1001Ter) c.3120C>A (p.Tyr1040Ter) n.1009C>A c.723C>A (p.Tyr241Ter) c.3132C>A (p.Tyr1044Ter) c.3108C>A (p.Tyr1036Ter) c.3075C>A (p.Tyr1025Ter) c.3018C>A (p.Tyr1006Ter) c.3117C>A (p.Tyr1039Ter) c.3093C>A (p.Tyr1031Ter) c.2928C>A (p.Tyr976Ter) c.3090C>A (p.Tyr1030Ter) | |
1 | g.16986906T>A | CA338233726 | ATP13A2 | c.3134A>T (p.Tyr1045Phe) c.3002A>T (p.Tyr1001Phe) c.3119A>T (p.Tyr1040Phe) n.1008A>T c.722A>T (p.Tyr241Phe) c.3131A>T (p.Tyr1044Phe) c.3107A>T (p.Tyr1036Phe) c.3074A>T (p.Tyr1025Phe) c.3017A>T (p.Tyr1006Phe) c.3116A>T (p.Tyr1039Phe) c.3092A>T (p.Tyr1031Phe) c.2927A>T (p.Tyr976Phe) c.3089A>T (p.Tyr1030Phe) | |
1 | g.16986906T>C | CA338233729 | ATP13A2 | c.3134A>G (p.Tyr1045Cys) c.3002A>G (p.Tyr1001Cys) c.3119A>G (p.Tyr1040Cys) n.1008A>G c.722A>G (p.Tyr241Cys) c.3131A>G (p.Tyr1044Cys) c.3107A>G (p.Tyr1036Cys) c.3074A>G (p.Tyr1025Cys) c.3017A>G (p.Tyr1006Cys) c.3116A>G (p.Tyr1039Cys) c.3092A>G (p.Tyr1031Cys) c.2927A>G (p.Tyr976Cys) c.3089A>G (p.Tyr1030Cys) | dbSNP |
1 | g.16986906T>G | CA338233733 | ATP13A2 | c.3134A>C (p.Tyr1045Ser) c.3002A>C (p.Tyr1001Ser) c.3119A>C (p.Tyr1040Ser) n.1008A>C c.722A>C (p.Tyr241Ser) c.3131A>C (p.Tyr1044Ser) c.3107A>C (p.Tyr1036Ser) c.3074A>C (p.Tyr1025Ser) c.3017A>C (p.Tyr1006Ser) c.3116A>C (p.Tyr1039Ser) c.3092A>C (p.Tyr1031Ser) c.2927A>C (p.Tyr976Ser) c.3089A>C (p.Tyr1030Ser) | |
1 | g.16986906T= | CA1156050546 | ATP13A2 | c.3134A= (p.Tyr1045=) c.3002A= (p.Tyr1001=) c.3119A= (p.Tyr1040=) n.1008A= c.722A= (p.Tyr241=) c.3131A= (p.Tyr1044=) c.3107A= (p.Tyr1036=) c.3074A= (p.Tyr1025=) c.3017A= (p.Tyr1006=) c.3116A= (p.Tyr1039=) c.3092A= (p.Tyr1031=) c.2927A= (p.Tyr976=) c.3089A= (p.Tyr1030=) | |
1 | g.16986907A>C | CA338233735 | ATP13A2 | c.3133T>G (p.Tyr1045Asp) c.3001T>G (p.Tyr1001Asp) c.3118T>G (p.Tyr1040Asp) n.1007T>G c.721T>G (p.Tyr241Asp) c.3130T>G (p.Tyr1044Asp) c.3106T>G (p.Tyr1036Asp) c.3073T>G (p.Tyr1025Asp) c.3016T>G (p.Tyr1006Asp) c.3115T>G (p.Tyr1039Asp) c.3091T>G (p.Tyr1031Asp) c.2926T>G (p.Tyr976Asp) c.3088T>G (p.Tyr1030Asp) | |
1 | g.16986907A>G | CA338233738 | ATP13A2 | c.3133T>C (p.Tyr1045His) c.3001T>C (p.Tyr1001His) c.3118T>C (p.Tyr1040His) n.1007T>C c.721T>C (p.Tyr241His) c.3130T>C (p.Tyr1044His) c.3106T>C (p.Tyr1036His) c.3073T>C (p.Tyr1025His) c.3016T>C (p.Tyr1006His) c.3115T>C (p.Tyr1039His) c.3091T>C (p.Tyr1031His) c.2926T>C (p.Tyr976His) c.3088T>C (p.Tyr1030His) | |
1 | g.16986907A>T | CA338233739 | ATP13A2 | c.3133T>A (p.Tyr1045Asn) c.3001T>A (p.Tyr1001Asn) c.3118T>A (p.Tyr1040Asn) n.1007T>A c.721T>A (p.Tyr241Asn) c.3130T>A (p.Tyr1044Asn) c.3106T>A (p.Tyr1036Asn) c.3073T>A (p.Tyr1025Asn) c.3016T>A (p.Tyr1006Asn) c.3115T>A (p.Tyr1039Asn) c.3091T>A (p.Tyr1031Asn) c.2926T>A (p.Tyr976Asn) c.3088T>A (p.Tyr1030Asn) | |
1 | g.16986908G>A | CA416093754 | ATP13A2 | c.3132C>T (p.Asn1044=) c.3000C>T (p.Asn1000=) c.3117C>T (p.Asn1039=) n.1006C>T c.720C>T (p.Asn240=) c.3129C>T (p.Asn1043=) c.3105C>T (p.Asn1035=) c.3072C>T (p.Asn1024=) c.3015C>T (p.Asn1005=) c.3114C>T (p.Asn1038=) c.3090C>T (p.Asn1030=) c.2925C>T (p.Asn975=) c.3087C>T (p.Asn1029=) | |
1 | g.16986908G>C | CA338233741 | ATP13A2 | c.3132C>G (p.Asn1044Lys) c.3000C>G (p.Asn1000Lys) c.3117C>G (p.Asn1039Lys) n.1006C>G c.720C>G (p.Asn240Lys) c.3129C>G (p.Asn1043Lys) c.3105C>G (p.Asn1035Lys) c.3072C>G (p.Asn1024Lys) c.3015C>G (p.Asn1005Lys) c.3114C>G (p.Asn1038Lys) c.3090C>G (p.Asn1030Lys) c.2925C>G (p.Asn975Lys) c.3087C>G (p.Asn1029Lys) | |
1 | g.16986908G>T | CA338233742 | ATP13A2 | c.3132C>A (p.Asn1044Lys) c.3000C>A (p.Asn1000Lys) c.3117C>A (p.Asn1039Lys) n.1006C>A c.720C>A (p.Asn240Lys) c.3129C>A (p.Asn1043Lys) c.3105C>A (p.Asn1035Lys) c.3072C>A (p.Asn1024Lys) c.3015C>A (p.Asn1005Lys) c.3114C>A (p.Asn1038Lys) c.3090C>A (p.Asn1030Lys) c.2925C>A (p.Asn975Lys) c.3087C>A (p.Asn1029Lys) | |
1 | g.16986909T>A | CA338233744 | ATP13A2 | c.3131A>T (p.Asn1044Ile) c.2999A>T (p.Asn1000Ile) c.3116A>T (p.Asn1039Ile) n.1005A>T c.719A>T (p.Asn240Ile) c.3128A>T (p.Asn1043Ile) c.3104A>T (p.Asn1035Ile) c.3071A>T (p.Asn1024Ile) c.3014A>T (p.Asn1005Ile) c.3113A>T (p.Asn1038Ile) c.3089A>T (p.Asn1030Ile) c.2924A>T (p.Asn975Ile) c.3086A>T (p.Asn1029Ile) | |
1 | g.16986909T>C | CA636590 | ATP13A2 | c.3131A>G (p.Asn1044Ser) c.2999A>G (p.Asn1000Ser) c.3116A>G (p.Asn1039Ser) n.1005A>G c.719A>G (p.Asn240Ser) c.3128A>G (p.Asn1043Ser) c.3104A>G (p.Asn1035Ser) c.3071A>G (p.Asn1024Ser) c.3014A>G (p.Asn1005Ser) c.3113A>G (p.Asn1038Ser) c.3089A>G (p.Asn1030Ser) c.2924A>G (p.Asn975Ser) c.3086A>G (p.Asn1029Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16986909T>G | CA636591 | ATP13A2 | c.3131A>C (p.Asn1044Thr) c.2999A>C (p.Asn1000Thr) c.3116A>C (p.Asn1039Thr) n.1005A>C c.719A>C (p.Asn240Thr) c.3128A>C (p.Asn1043Thr) c.3104A>C (p.Asn1035Thr) c.3071A>C (p.Asn1024Thr) c.3014A>C (p.Asn1005Thr) c.3113A>C (p.Asn1038Thr) c.3089A>C (p.Asn1030Thr) c.2924A>C (p.Asn975Thr) c.3086A>C (p.Asn1029Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16986909T= | CA1142143434 | ATP13A2 | c.3131A= (p.Asn1044=) c.2999A= (p.Asn1000=) c.3116A= (p.Asn1039=) n.1005A= c.719A= (p.Asn240=) c.3128A= (p.Asn1043=) c.3104A= (p.Asn1035=) c.3071A= (p.Asn1024=) c.3014A= (p.Asn1005=) c.3113A= (p.Asn1038=) c.3089A= (p.Asn1030=) c.2924A= (p.Asn975=) c.3086A= (p.Asn1029=) | |
1 | g.16986910T>A | CA338233752 | ATP13A2 | c.3130A>T (p.Asn1044Tyr) c.2998A>T (p.Asn1000Tyr) c.3115A>T (p.Asn1039Tyr) n.1004A>T c.718A>T (p.Asn240Tyr) c.3127A>T (p.Asn1043Tyr) c.3103A>T (p.Asn1035Tyr) c.3070A>T (p.Asn1024Tyr) c.3013A>T (p.Asn1005Tyr) c.3112A>T (p.Asn1038Tyr) c.3088A>T (p.Asn1030Tyr) c.2923A>T (p.Asn975Tyr) c.3085A>T (p.Asn1029Tyr) | |
1 | g.16986910T>C | CA338233747 | ATP13A2 | c.3130A>G (p.Asn1044Asp) c.2998A>G (p.Asn1000Asp) c.3115A>G (p.Asn1039Asp) n.1004A>G c.718A>G (p.Asn240Asp) c.3127A>G (p.Asn1043Asp) c.3103A>G (p.Asn1035Asp) c.3070A>G (p.Asn1024Asp) c.3013A>G (p.Asn1005Asp) c.3112A>G (p.Asn1038Asp) c.3088A>G (p.Asn1030Asp) c.2923A>G (p.Asn975Asp) c.3085A>G (p.Asn1029Asp) | |
1 | g.16986910T>G | CA338233756 | ATP13A2 | c.3130A>C (p.Asn1044His) c.2998A>C (p.Asn1000His) c.3115A>C (p.Asn1039His) n.1004A>C c.718A>C (p.Asn240His) c.3127A>C (p.Asn1043His) c.3103A>C (p.Asn1035His) c.3070A>C (p.Asn1024His) c.3013A>C (p.Asn1005His) c.3112A>C (p.Asn1038His) c.3088A>C (p.Asn1030His) c.2923A>C (p.Asn975His) c.3085A>C (p.Asn1029His) | |
1 | g.16986911G>A | CA416093755 | ATP13A2 | c.3129C>T (p.Pro1043=) c.2997C>T (p.Pro999=) c.3114C>T (p.Pro1038=) n.1003C>T c.717C>T (p.Pro239=) c.3126C>T (p.Pro1042=) c.3102C>T (p.Pro1034=) c.3069C>T (p.Pro1023=) c.3012C>T (p.Pro1004=) c.3111C>T (p.Pro1037=) c.3087C>T (p.Pro1029=) c.2922C>T (p.Pro974=) c.3084C>T (p.Pro1028=) | |
1 | g.16986911G>C | CA636592 | ATP13A2 | c.3129C>G (p.Pro1043=) c.2997C>G (p.Pro999=) c.3114C>G (p.Pro1038=) n.1003C>G c.717C>G (p.Pro239=) c.3126C>G (p.Pro1042=) c.3102C>G (p.Pro1034=) c.3069C>G (p.Pro1023=) c.3012C>G (p.Pro1004=) c.3111C>G (p.Pro1037=) c.3087C>G (p.Pro1029=) c.2922C>G (p.Pro974=) c.3084C>G (p.Pro1028=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.16986911G= | CA1156050556 | ATP13A2 | c.3129C= (p.Pro1043=) c.2997C= (p.Pro999=) c.3114C= (p.Pro1038=) n.1003C= c.717C= (p.Pro239=) c.3126C= (p.Pro1042=) c.3102C= (p.Pro1034=) c.3069C= (p.Pro1023=) c.3012C= (p.Pro1004=) c.3111C= (p.Pro1037=) c.3087C= (p.Pro1029=) c.2922C= (p.Pro974=) c.3084C= (p.Pro1028=) | |
1 | g.16986911G>T | CA416093756 | ATP13A2 | c.3129C>A (p.Pro1043=) c.2997C>A (p.Pro999=) c.3114C>A (p.Pro1038=) n.1003C>A c.717C>A (p.Pro239=) c.3126C>A (p.Pro1042=) c.3102C>A (p.Pro1034=) c.3069C>A (p.Pro1023=) c.3012C>A (p.Pro1004=) c.3111C>A (p.Pro1037=) c.3087C>A (p.Pro1029=) c.2922C>A (p.Pro974=) c.3084C>A (p.Pro1028=) | |
1 | g.16986912G>A | CA338233759 | ATP13A2 | c.3128C>T (p.Pro1043Leu) c.2996C>T (p.Pro999Leu) c.3113C>T (p.Pro1038Leu) n.1002C>T c.716C>T (p.Pro239Leu) c.3125C>T (p.Pro1042Leu) c.3101C>T (p.Pro1034Leu) c.3068C>T (p.Pro1023Leu) c.3011C>T (p.Pro1004Leu) c.3110C>T (p.Pro1037Leu) c.3086C>T (p.Pro1029Leu) c.2921C>T (p.Pro974Leu) c.3083C>T (p.Pro1028Leu) | |
1 | g.16986912G>C | CA338233761 | ATP13A2 | c.3128C>G (p.Pro1043Arg) c.2996C>G (p.Pro999Arg) c.3113C>G (p.Pro1038Arg) n.1002C>G c.716C>G (p.Pro239Arg) c.3125C>G (p.Pro1042Arg) c.3101C>G (p.Pro1034Arg) c.3068C>G (p.Pro1023Arg) c.3011C>G (p.Pro1004Arg) c.3110C>G (p.Pro1037Arg) c.3086C>G (p.Pro1029Arg) c.2921C>G (p.Pro974Arg) c.3083C>G (p.Pro1028Arg) | gnomAD v4 |
1 | g.16986912G>T | CA338233776 | ATP13A2 | c.3128C>A (p.Pro1043His) c.2996C>A (p.Pro999His) c.3113C>A (p.Pro1038His) n.1002C>A c.716C>A (p.Pro239His) c.3125C>A (p.Pro1042His) c.3101C>A (p.Pro1034His) c.3068C>A (p.Pro1023His) c.3011C>A (p.Pro1004His) c.3110C>A (p.Pro1037His) c.3086C>A (p.Pro1029His) c.2921C>A (p.Pro974His) c.3083C>A (p.Pro1028His) | |
1 | g.16986913G>A | CA338233780 | ATP13A2 | c.3127C>T (p.Pro1043Ser) c.2995C>T (p.Pro999Ser) c.3112C>T (p.Pro1038Ser) n.1001C>T c.715C>T (p.Pro239Ser) c.3124C>T (p.Pro1042Ser) c.3100C>T (p.Pro1034Ser) c.3067C>T (p.Pro1023Ser) c.3010C>T (p.Pro1004Ser) c.3109C>T (p.Pro1037Ser) c.3085C>T (p.Pro1029Ser) c.2920C>T (p.Pro974Ser) c.3082C>T (p.Pro1028Ser) | gnomAD v4 |
1 | g.16986913G>C | CA338233781 | ATP13A2 | c.3127C>G (p.Pro1043Ala) c.2995C>G (p.Pro999Ala) c.3112C>G (p.Pro1038Ala) n.1001C>G c.715C>G (p.Pro239Ala) c.3124C>G (p.Pro1042Ala) c.3100C>G (p.Pro1034Ala) c.3067C>G (p.Pro1023Ala) c.3010C>G (p.Pro1004Ala) c.3109C>G (p.Pro1037Ala) c.3085C>G (p.Pro1029Ala) c.2920C>G (p.Pro974Ala) c.3082C>G (p.Pro1028Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16986913G= | CA1156050563 | ATP13A2 | c.3127C= (p.Pro1043=) c.2995C= (p.Pro999=) c.3112C= (p.Pro1038=) n.1001C= c.715C= (p.Pro239=) c.3124C= (p.Pro1042=) c.3100C= (p.Pro1034=) c.3067C= (p.Pro1023=) c.3010C= (p.Pro1004=) c.3109C= (p.Pro1037=) c.3085C= (p.Pro1029=) c.2920C= (p.Pro974=) c.3082C= (p.Pro1028=) | |
1 | g.16986913G>T | CA338233786 | ATP13A2 | c.3127C>A (p.Pro1043Thr) c.2995C>A (p.Pro999Thr) c.3112C>A (p.Pro1038Thr) n.1001C>A c.715C>A (p.Pro239Thr) c.3124C>A (p.Pro1042Thr) c.3100C>A (p.Pro1034Thr) c.3067C>A (p.Pro1023Thr) c.3010C>A (p.Pro1004Thr) c.3109C>A (p.Pro1037Thr) c.3085C>A (p.Pro1029Thr) c.2920C>A (p.Pro974Thr) c.3082C>A (p.Pro1028Thr) | |
1 | g.16986914C>A | CA416093757 | ATP13A2 | c.3126G>T (p.Leu1042=) c.2994G>T (p.Leu998=) c.3111G>T (p.Leu1037=) n.1000G>T c.714G>T (p.Leu238=) c.3123G>T (p.Leu1041=) c.3099G>T (p.Leu1033=) c.3066G>T (p.Leu1022=) c.3009G>T (p.Leu1003=) c.3108G>T (p.Leu1036=) c.3084G>T (p.Leu1028=) c.2919G>T (p.Leu973=) c.3081G>T (p.Leu1027=) | |
1 | g.16986914C= | CA1156050572 | ATP13A2 | c.3126G= (p.Leu1042=) c.2994G= (p.Leu998=) c.3111G= (p.Leu1037=) n.1000G= c.714G= (p.Leu238=) c.3123G= (p.Leu1041=) c.3099G= (p.Leu1033=) c.3066G= (p.Leu1022=) c.3009G= (p.Leu1003=) c.3108G= (p.Leu1036=) c.3084G= (p.Leu1028=) c.2919G= (p.Leu973=) c.3081G= (p.Leu1027=) | |
1 | g.16986914C>G | CA636593 | ATP13A2 | c.3126G>C (p.Leu1042=) c.2994G>C (p.Leu998=) c.3111G>C (p.Leu1037=) n.1000G>C c.714G>C (p.Leu238=) c.3123G>C (p.Leu1041=) c.3099G>C (p.Leu1033=) c.3066G>C (p.Leu1022=) c.3009G>C (p.Leu1003=) c.3108G>C (p.Leu1036=) c.3084G>C (p.Leu1028=) c.2919G>C (p.Leu973=) c.3081G>C (p.Leu1027=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.16986914C>T | CA416093758 | ATP13A2 | c.3126G>A (p.Leu1042=) c.2994G>A (p.Leu998=) c.3111G>A (p.Leu1037=) n.1000G>A c.714G>A (p.Leu238=) c.3123G>A (p.Leu1041=) c.3099G>A (p.Leu1033=) c.3066G>A (p.Leu1022=) c.3009G>A (p.Leu1003=) c.3108G>A (p.Leu1036=) c.3084G>A (p.Leu1028=) c.2919G>A (p.Leu973=) c.3081G>A (p.Leu1027=) | |
1 | g.16986915A>C | CA338233790 | ATP13A2 | c.3125T>G (p.Leu1042Arg) c.2993T>G (p.Leu998Arg) c.3110T>G (p.Leu1037Arg) n.999T>G c.713T>G (p.Leu238Arg) c.3122T>G (p.Leu1041Arg) c.3098T>G (p.Leu1033Arg) c.3065T>G (p.Leu1022Arg) c.3008T>G (p.Leu1003Arg) c.3107T>G (p.Leu1036Arg) c.3083T>G (p.Leu1028Arg) c.2918T>G (p.Leu973Arg) c.3080T>G (p.Leu1027Arg) | |
1 | g.16986915A>G | CA338233793 | ATP13A2 | c.3125T>C (p.Leu1042Pro) c.2993T>C (p.Leu998Pro) c.3110T>C (p.Leu1037Pro) n.999T>C c.713T>C (p.Leu238Pro) c.3122T>C (p.Leu1041Pro) c.3098T>C (p.Leu1033Pro) c.3065T>C (p.Leu1022Pro) c.3008T>C (p.Leu1003Pro) c.3107T>C (p.Leu1036Pro) c.3083T>C (p.Leu1028Pro) c.2918T>C (p.Leu973Pro) c.3080T>C (p.Leu1027Pro) | |
1 | g.16986915A>T | CA338233798 | ATP13A2 | c.3125T>A (p.Leu1042Gln) c.2993T>A (p.Leu998Gln) c.3110T>A (p.Leu1037Gln) n.999T>A c.713T>A (p.Leu238Gln) c.3122T>A (p.Leu1041Gln) c.3098T>A (p.Leu1033Gln) c.3065T>A (p.Leu1022Gln) c.3008T>A (p.Leu1003Gln) c.3107T>A (p.Leu1036Gln) c.3083T>A (p.Leu1028Gln) c.2918T>A (p.Leu973Gln) c.3080T>A (p.Leu1027Gln) | |
1 | g.16986916G>A | CA416093761 | ATP13A2 | c.3124C>T (p.Leu1042=) c.2992C>T (p.Leu998=) c.3109C>T (p.Leu1037=) n.998C>T c.712C>T (p.Leu238=) c.3121C>T (p.Leu1041=) c.3097C>T (p.Leu1033=) c.3064C>T (p.Leu1022=) c.3007C>T (p.Leu1003=) c.3106C>T (p.Leu1036=) c.3082C>T (p.Leu1028=) c.2917C>T (p.Leu973=) c.3079C>T (p.Leu1027=) | |
1 | g.16986916G>C | CA338233800 | ATP13A2 | c.3124C>G (p.Leu1042Val) c.2992C>G (p.Leu998Val) c.3109C>G (p.Leu1037Val) n.998C>G c.712C>G (p.Leu238Val) c.3121C>G (p.Leu1041Val) c.3097C>G (p.Leu1033Val) c.3064C>G (p.Leu1022Val) c.3007C>G (p.Leu1003Val) c.3106C>G (p.Leu1036Val) c.3082C>G (p.Leu1028Val) c.2917C>G (p.Leu973Val) c.3079C>G (p.Leu1027Val) | |
1 | g.16986916G>T | CA338233801 | ATP13A2 | c.3124C>A (p.Leu1042Met) c.2992C>A (p.Leu998Met) c.3109C>A (p.Leu1037Met) n.998C>A c.712C>A (p.Leu238Met) c.3121C>A (p.Leu1041Met) c.3097C>A (p.Leu1033Met) c.3064C>A (p.Leu1022Met) c.3007C>A (p.Leu1003Met) c.3106C>A (p.Leu1036Met) c.3082C>A (p.Leu1028Met) c.2917C>A (p.Leu973Met) c.3079C>A (p.Leu1027Met) | |
1 | g.16986917G>A | CA416093762 | ATP13A2 | c.3123C>T (p.Asn1041=) c.2991C>T (p.Asn997=) c.3108C>T (p.Asn1036=) n.997C>T c.711C>T (p.Asn237=) c.3120C>T (p.Asn1040=) c.3096C>T (p.Asn1032=) c.3063C>T (p.Asn1021=) c.3006C>T (p.Asn1002=) c.3105C>T (p.Asn1035=) c.3081C>T (p.Asn1027=) c.2916C>T (p.Asn972=) c.3078C>T (p.Asn1026=) | |
1 | g.16986917G>C | CA338233802 | ATP13A2 | c.3123C>G (p.Asn1041Lys) c.2991C>G (p.Asn997Lys) c.3108C>G (p.Asn1036Lys) n.997C>G c.711C>G (p.Asn237Lys) c.3120C>G (p.Asn1040Lys) c.3096C>G (p.Asn1032Lys) c.3063C>G (p.Asn1021Lys) c.3006C>G (p.Asn1002Lys) c.3105C>G (p.Asn1035Lys) c.3081C>G (p.Asn1027Lys) c.2916C>G (p.Asn972Lys) c.3078C>G (p.Asn1026Lys) | |
1 | g.16986917G>T | CA338233804 | ATP13A2 | c.3123C>A (p.Asn1041Lys) c.2991C>A (p.Asn997Lys) c.3108C>A (p.Asn1036Lys) n.997C>A c.711C>A (p.Asn237Lys) c.3120C>A (p.Asn1040Lys) c.3096C>A (p.Asn1032Lys) c.3063C>A (p.Asn1021Lys) c.3006C>A (p.Asn1002Lys) c.3105C>A (p.Asn1035Lys) c.3081C>A (p.Asn1027Lys) c.2916C>A (p.Asn972Lys) c.3078C>A (p.Asn1026Lys) | |
1 | g.16986918T>A | CA338233806 | ATP13A2 | c.3122A>T (p.Asn1041Ile) c.2990A>T (p.Asn997Ile) c.3107A>T (p.Asn1036Ile) n.996A>T c.710A>T (p.Asn237Ile) c.3119A>T (p.Asn1040Ile) c.3095A>T (p.Asn1032Ile) c.3062A>T (p.Asn1021Ile) c.3005A>T (p.Asn1002Ile) c.3104A>T (p.Asn1035Ile) c.3080A>T (p.Asn1027Ile) c.2915A>T (p.Asn972Ile) c.3077A>T (p.Asn1026Ile) | |
1 | g.16986918T>C | CA338233807 | ATP13A2 | c.3122A>G (p.Asn1041Ser) c.2990A>G (p.Asn997Ser) c.3107A>G (p.Asn1036Ser) n.996A>G c.710A>G (p.Asn237Ser) c.3119A>G (p.Asn1040Ser) c.3095A>G (p.Asn1032Ser) c.3062A>G (p.Asn1021Ser) c.3005A>G (p.Asn1002Ser) c.3104A>G (p.Asn1035Ser) c.3080A>G (p.Asn1027Ser) c.2915A>G (p.Asn972Ser) c.3077A>G (p.Asn1026Ser) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.16986918T>G | CA338233809 | ATP13A2 | c.3122A>C (p.Asn1041Thr) c.2990A>C (p.Asn997Thr) c.3107A>C (p.Asn1036Thr) n.996A>C c.710A>C (p.Asn237Thr) c.3119A>C (p.Asn1040Thr) c.3095A>C (p.Asn1032Thr) c.3062A>C (p.Asn1021Thr) c.3005A>C (p.Asn1002Thr) c.3104A>C (p.Asn1035Thr) c.3080A>C (p.Asn1027Thr) c.2915A>C (p.Asn972Thr) c.3077A>C (p.Asn1026Thr) | dbSNP |
1 | g.16986918T= | CA1156050580 | ATP13A2 | c.3122A= (p.Asn1041=) c.2990A= (p.Asn997=) c.3107A= (p.Asn1036=) n.996A= c.710A= (p.Asn237=) c.3119A= (p.Asn1040=) c.3095A= (p.Asn1032=) c.3062A= (p.Asn1021=) c.3005A= (p.Asn1002=) c.3104A= (p.Asn1035=) c.3080A= (p.Asn1027=) c.2915A= (p.Asn972=) c.3077A= (p.Asn1026=) | |
1 | g.16986918_16986922delinsTTGTC | CA1156050577 | ATP13A2 | c.3118_3122delinsGACAA (p.Asp1040=) c.2986_2990delinsGACAA (p.Asp996=) c.3103_3107delinsGACAA (p.Asp1035=) n.992_996delinsGACAA c.706_710delinsGACAA (p.Asp236=) c.3115_3119delinsGACAA (p.Asp1039=) c.3091_3095delinsGACAA (p.Asp1031=) c.3058_3062delinsGACAA (p.Asp1020=) c.3001_3005delinsGACAA (p.Asp1001=) c.3100_3104delinsGACAA (p.Asp1034=) c.3076_3080delinsGACAA (p.Asp1026=) c.2911_2915delinsGACAA (p.Asp971=) c.3073_3077delinsGACAA (p.Asp1025=) | |
1 | g.16986919T>A | CA338233813 | ATP13A2 | c.3121A>T (p.Asn1041Tyr) c.2989A>T (p.Asn997Tyr) c.3106A>T (p.Asn1036Tyr) n.995A>T c.709A>T (p.Asn237Tyr) c.3118A>T (p.Asn1040Tyr) c.3094A>T (p.Asn1032Tyr) c.3061A>T (p.Asn1021Tyr) c.3004A>T (p.Asn1002Tyr) c.3103A>T (p.Asn1035Tyr) c.3079A>T (p.Asn1027Tyr) c.2914A>T (p.Asn972Tyr) c.3076A>T (p.Asn1026Tyr) | |
1 | g.16986919T>C | CA338233815 | ATP13A2 | c.3121A>G (p.Asn1041Asp) c.2989A>G (p.Asn997Asp) c.3106A>G (p.Asn1036Asp) n.995A>G c.709A>G (p.Asn237Asp) c.3118A>G (p.Asn1040Asp) c.3094A>G (p.Asn1032Asp) c.3061A>G (p.Asn1021Asp) c.3004A>G (p.Asn1002Asp) c.3103A>G (p.Asn1035Asp) c.3079A>G (p.Asn1027Asp) c.2914A>G (p.Asn972Asp) c.3076A>G (p.Asn1026Asp) | |
1 | g.16986919T>G | CA338233817 | ATP13A2 | c.3121A>C (p.Asn1041His) c.2989A>C (p.Asn997His) c.3106A>C (p.Asn1036His) n.995A>C c.709A>C (p.Asn237His) c.3118A>C (p.Asn1040His) c.3094A>C (p.Asn1032His) c.3061A>C (p.Asn1021His) c.3004A>C (p.Asn1002His) c.3103A>C (p.Asn1035His) c.3079A>C (p.Asn1027His) c.2914A>C (p.Asn972His) c.3076A>C (p.Asn1026His) | |
1 | g.16986921_16986924del | CA890929638 | ATP13A2 | c.3118_3121del (p.Asp1040ThrfsTer?) c.2986_2989del (p.Asp996ThrfsTer?) c.3103_3106del (p.Asp1035ThrfsTer?) n.992_995del c.706_709del (p.Asp236ThrfsTer?) c.3115_3118del (p.Asp1039ThrfsTer?) c.3091_3094del (p.Asp1031ThrfsTer?) c.3058_3061del (p.Asp1020ThrfsTer?) c.3001_3004del (p.Asp1001ThrfsTer?) c.3100_3103del (p.Asp1034ThrfsTer?) c.3076_3079del (p.Asp1026ThrfsTer?) c.2911_2914del (p.Asp971ThrfsTer?) c.3073_3076del (p.Asp1025ThrfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.16986920G>A | CA416093764 | ATP13A2 | c.3120C>T (p.Asp1040=) c.2988C>T (p.Asp996=) c.3105C>T (p.Asp1035=) n.994C>T c.708C>T (p.Asp236=) c.3117C>T (p.Asp1039=) c.3093C>T (p.Asp1031=) c.3060C>T (p.Asp1020=) c.3003C>T (p.Asp1001=) c.3102C>T (p.Asp1034=) c.3078C>T (p.Asp1026=) c.2913C>T (p.Asp971=) c.3075C>T (p.Asp1025=) | |
1 | g.16986920G>C | CA338233821 | ATP13A2 | c.3120C>G (p.Asp1040Glu) c.2988C>G (p.Asp996Glu) c.3105C>G (p.Asp1035Glu) n.994C>G c.708C>G (p.Asp236Glu) c.3117C>G (p.Asp1039Glu) c.3093C>G (p.Asp1031Glu) c.3060C>G (p.Asp1020Glu) c.3003C>G (p.Asp1001Glu) c.3102C>G (p.Asp1034Glu) c.3078C>G (p.Asp1026Glu) c.2913C>G (p.Asp971Glu) c.3075C>G (p.Asp1025Glu) | |
1 | g.16986920G>T | CA338233822 | ATP13A2 | c.3120C>A (p.Asp1040Glu) c.2988C>A (p.Asp996Glu) c.3105C>A (p.Asp1035Glu) n.994C>A c.708C>A (p.Asp236Glu) c.3117C>A (p.Asp1039Glu) c.3093C>A (p.Asp1031Glu) c.3060C>A (p.Asp1020Glu) c.3003C>A (p.Asp1001Glu) c.3102C>A (p.Asp1034Glu) c.3078C>A (p.Asp1026Glu) c.2913C>A (p.Asp971Glu) c.3075C>A (p.Asp1025Glu) | |
1 | g.16986921T>A | CA338233825 | ATP13A2 | c.3119A>T (p.Asp1040Val) c.2987A>T (p.Asp996Val) c.3104A>T (p.Asp1035Val) n.993A>T c.707A>T (p.Asp236Val) c.3116A>T (p.Asp1039Val) c.3092A>T (p.Asp1031Val) c.3059A>T (p.Asp1020Val) c.3002A>T (p.Asp1001Val) c.3101A>T (p.Asp1034Val) c.3077A>T (p.Asp1026Val) c.2912A>T (p.Asp971Val) c.3074A>T (p.Asp1025Val) | |
1 | g.16986921T>C | CA338233827 | ATP13A2 | c.3119A>G (p.Asp1040Gly) c.2987A>G (p.Asp996Gly) c.3104A>G (p.Asp1035Gly) n.993A>G c.707A>G (p.Asp236Gly) c.3116A>G (p.Asp1039Gly) c.3092A>G (p.Asp1031Gly) c.3059A>G (p.Asp1020Gly) c.3002A>G (p.Asp1001Gly) c.3101A>G (p.Asp1034Gly) c.3077A>G (p.Asp1026Gly) c.2912A>G (p.Asp971Gly) c.3074A>G (p.Asp1025Gly) | |
1 | g.16986921T>G | CA338233831 | ATP13A2 | c.3119A>C (p.Asp1040Ala) c.2987A>C (p.Asp996Ala) c.3104A>C (p.Asp1035Ala) n.993A>C c.707A>C (p.Asp236Ala) c.3116A>C (p.Asp1039Ala) c.3092A>C (p.Asp1031Ala) c.3059A>C (p.Asp1020Ala) c.3002A>C (p.Asp1001Ala) c.3101A>C (p.Asp1034Ala) c.3077A>C (p.Asp1026Ala) c.2912A>C (p.Asp971Ala) c.3074A>C (p.Asp1025Ala) | |
1 | g.16986922C>A | CA338233848 | ATP13A2 | c.3118G>T (p.Asp1040Tyr) c.2986G>T (p.Asp996Tyr) c.3103G>T (p.Asp1035Tyr) n.992G>T c.706G>T (p.Asp236Tyr) c.3115G>T (p.Asp1039Tyr) c.3091G>T (p.Asp1031Tyr) c.3058G>T (p.Asp1020Tyr) c.3001G>T (p.Asp1001Tyr) c.3100G>T (p.Asp1034Tyr) c.3076G>T (p.Asp1026Tyr) c.2911G>T (p.Asp971Tyr) c.3073G>T (p.Asp1025Tyr) | |
1 | g.16986922C= | CA1149066301 | ATP13A2 | c.3118G= (p.Asp1040=) c.2986G= (p.Asp996=) c.3103G= (p.Asp1035=) n.992G= c.706G= (p.Asp236=) c.3115G= (p.Asp1039=) c.3091G= (p.Asp1031=) c.3058G= (p.Asp1020=) c.3001G= (p.Asp1001=) c.3100G= (p.Asp1034=) c.3076G= (p.Asp1026=) c.2911G= (p.Asp971=) c.3073G= (p.Asp1025=) | |
1 | g.16986922C>G | CA338233839 | ATP13A2 | c.3118G>C (p.Asp1040His) c.2986G>C (p.Asp996His) c.3103G>C (p.Asp1035His) n.992G>C c.706G>C (p.Asp236His) c.3115G>C (p.Asp1039His) c.3091G>C (p.Asp1031His) c.3058G>C (p.Asp1020His) c.3001G>C (p.Asp1001His) c.3100G>C (p.Asp1034His) c.3076G>C (p.Asp1026His) c.2911G>C (p.Asp971His) c.3073G>C (p.Asp1025His) | |
1 | g.16986922C>T | CA636594 | ATP13A2 | c.3118G>A (p.Asp1040Asn) c.2986G>A (p.Asp996Asn) c.3103G>A (p.Asp1035Asn) n.992G>A c.706G>A (p.Asp236Asn) c.3115G>A (p.Asp1039Asn) c.3091G>A (p.Asp1031Asn) c.3058G>A (p.Asp1020Asn) c.3001G>A (p.Asp1001Asn) c.3100G>A (p.Asp1034Asn) c.3076G>A (p.Asp1026Asn) c.2911G>A (p.Asp971Asn) c.3073G>A (p.Asp1025Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.16986923T>A | CA416093766 | ATP13A2 | c.3117A>T (p.Pro1039=) c.2985A>T (p.Pro995=) c.3102A>T (p.Pro1034=) n.991A>T c.705A>T (p.Pro235=) c.3114A>T (p.Pro1038=) c.3090A>T (p.Pro1030=) c.3057A>T (p.Pro1019=) c.3000A>T (p.Pro1000=) c.3099A>T (p.Pro1033=) c.3075A>T (p.Pro1025=) c.2910A>T (p.Pro970=) c.3072A>T (p.Pro1024=) | |
1 | g.16986923T>C | CA416093767 | ATP13A2 | c.3117A>G (p.Pro1039=) c.2985A>G (p.Pro995=) c.3102A>G (p.Pro1034=) n.991A>G c.705A>G (p.Pro235=) c.3114A>G (p.Pro1038=) c.3090A>G (p.Pro1030=) c.3057A>G (p.Pro1019=) c.3000A>G (p.Pro1000=) c.3099A>G (p.Pro1033=) c.3075A>G (p.Pro1025=) c.2910A>G (p.Pro970=) c.3072A>G (p.Pro1024=) | dbSNP gnomAD v4 |
1 | g.16986923T>G | CA416093768 | ATP13A2 | c.3117A>C (p.Pro1039=) c.2985A>C (p.Pro995=) c.3102A>C (p.Pro1034=) n.991A>C c.705A>C (p.Pro235=) c.3114A>C (p.Pro1038=) c.3090A>C (p.Pro1030=) c.3057A>C (p.Pro1019=) c.3000A>C (p.Pro1000=) c.3099A>C (p.Pro1033=) c.3075A>C (p.Pro1025=) c.2910A>C (p.Pro970=) c.3072A>C (p.Pro1024=) | |
1 | g.16986923T= | CA1156050593 | ATP13A2 | c.3117A= (p.Pro1039=) c.2985A= (p.Pro995=) c.3102A= (p.Pro1034=) n.991A= c.705A= (p.Pro235=) c.3114A= (p.Pro1038=) c.3090A= (p.Pro1030=) c.3057A= (p.Pro1019=) c.3000A= (p.Pro1000=) c.3099A= (p.Pro1033=) c.3075A= (p.Pro1025=) c.2910A= (p.Pro970=) c.3072A= (p.Pro1024=) | |
1 | g.16986924G>A | CA338233851 | ATP13A2 | c.3116C>T (p.Pro1039Leu) c.2984C>T (p.Pro995Leu) c.3101C>T (p.Pro1034Leu) n.990C>T c.704C>T (p.Pro235Leu) c.3113C>T (p.Pro1038Leu) c.3089C>T (p.Pro1030Leu) c.3056C>T (p.Pro1019Leu) c.2999C>T (p.Pro1000Leu) c.3098C>T (p.Pro1033Leu) c.3074C>T (p.Pro1025Leu) c.2909C>T (p.Pro970Leu) c.3071C>T (p.Pro1024Leu) | |
1 | g.16986924G>C | CA338233852 | ATP13A2 | c.3116C>G (p.Pro1039Arg) c.2984C>G (p.Pro995Arg) c.3101C>G (p.Pro1034Arg) n.990C>G c.704C>G (p.Pro235Arg) c.3113C>G (p.Pro1038Arg) c.3089C>G (p.Pro1030Arg) c.3056C>G (p.Pro1019Arg) c.2999C>G (p.Pro1000Arg) c.3098C>G (p.Pro1033Arg) c.3074C>G (p.Pro1025Arg) c.2909C>G (p.Pro970Arg) c.3071C>G (p.Pro1024Arg) | |
1 | g.16986924G>T | CA338233855 | ATP13A2 | c.3116C>A (p.Pro1039Gln) c.2984C>A (p.Pro995Gln) c.3101C>A (p.Pro1034Gln) n.990C>A c.704C>A (p.Pro235Gln) c.3113C>A (p.Pro1038Gln) c.3089C>A (p.Pro1030Gln) c.3056C>A (p.Pro1019Gln) c.2999C>A (p.Pro1000Gln) c.3098C>A (p.Pro1033Gln) c.3074C>A (p.Pro1025Gln) c.2909C>A (p.Pro970Gln) c.3071C>A (p.Pro1024Gln) | |
1 | g.16986924_16986926delinsGGT | CA1156050599 | ATP13A2 | c.3114_3116delinsACC (p.Ala1038=) c.2982_2984delinsACC (p.Ala994=) c.3099_3101delinsACC (p.Ala1033=) n.988_990delinsACC c.702_704delinsACC (p.Ala234=) c.3111_3113delinsACC (p.Ala1037=) c.3087_3089delinsACC (p.Ala1029=) c.3054_3056delinsACC (p.Ala1018=) c.2997_2999delinsACC (p.Ala999=) c.3096_3098delinsACC (p.Ala1032=) c.3072_3074delinsACC (p.Ala1024=) c.2907_2909delinsACC (p.Ala969=) c.3069_3071delinsACC (p.Ala1023=) | |
1 | g.16986925G>A | CA338233856 | ATP13A2 | c.3115C>T (p.Pro1039Ser) c.2983C>T (p.Pro995Ser) c.3100C>T (p.Pro1034Ser) n.989C>T c.703C>T (p.Pro235Ser) c.3112C>T (p.Pro1038Ser) c.3088C>T (p.Pro1030Ser) c.3055C>T (p.Pro1019Ser) c.2998C>T (p.Pro1000Ser) c.3097C>T (p.Pro1033Ser) c.3073C>T (p.Pro1025Ser) c.2908C>T (p.Pro970Ser) c.3070C>T (p.Pro1024Ser) | |
1 | g.16986925G>C | CA338233859 | ATP13A2 | c.3115C>G (p.Pro1039Ala) c.2983C>G (p.Pro995Ala) c.3100C>G (p.Pro1034Ala) n.989C>G c.703C>G (p.Pro235Ala) c.3112C>G (p.Pro1038Ala) c.3088C>G (p.Pro1030Ala) c.3055C>G (p.Pro1019Ala) c.2998C>G (p.Pro1000Ala) c.3097C>G (p.Pro1033Ala) c.3073C>G (p.Pro1025Ala) c.2908C>G (p.Pro970Ala) c.3070C>G (p.Pro1024Ala) | |
1 | g.16986925G>T | CA338233860 | ATP13A2 | c.3115C>A (p.Pro1039Thr) c.2983C>A (p.Pro995Thr) c.3100C>A (p.Pro1034Thr) n.989C>A c.703C>A (p.Pro235Thr) c.3112C>A (p.Pro1038Thr) c.3088C>A (p.Pro1030Thr) c.3055C>A (p.Pro1019Thr) c.2998C>A (p.Pro1000Thr) c.3097C>A (p.Pro1033Thr) c.3073C>A (p.Pro1025Thr) c.2908C>A (p.Pro970Thr) c.3070C>A (p.Pro1024Thr) | |
1 | g.16986926_16986927del | CA890929649 | ATP13A2 | c.3114_3115del (p.Pro1039ArgfsTer?) c.2982_2983del (p.Pro995ArgfsTer?) c.3099_3100del (p.Pro1034ArgfsTer?) n.988_989del c.702_703del (p.Pro235ArgfsTer?) c.3111_3112del (p.Pro1038ArgfsTer?) c.3087_3088del (p.Pro1030ArgfsTer?) c.3054_3055del (p.Pro1019ArgfsTer?) c.2997_2998del (p.Pro1000ArgfsTer?) c.3096_3097del (p.Pro1033ArgfsTer?) c.3072_3073del (p.Pro1025ArgfsTer?) c.2907_2908del (p.Pro970ArgfsTer?) c.3069_3070del (p.Pro1024ArgfsTer?) | dbSNP |
1 | g.16986926T>A | CA416093772 | ATP13A2 | c.3114A>T (p.Ala1038=) c.2982A>T (p.Ala994=) c.3099A>T (p.Ala1033=) n.988A>T c.702A>T (p.Ala234=) c.3111A>T (p.Ala1037=) c.3087A>T (p.Ala1029=) c.3054A>T (p.Ala1018=) c.2997A>T (p.Ala999=) c.3096A>T (p.Ala1032=) c.3072A>T (p.Ala1024=) c.2907A>T (p.Ala969=) c.3069A>T (p.Ala1023=) | |
1 | g.16986926T>C | CA416093773 | ATP13A2 | c.3114A>G (p.Ala1038=) c.2982A>G (p.Ala994=) c.3099A>G (p.Ala1033=) n.988A>G c.702A>G (p.Ala234=) c.3111A>G (p.Ala1037=) c.3087A>G (p.Ala1029=) c.3054A>G (p.Ala1018=) c.2997A>G (p.Ala999=) c.3096A>G (p.Ala1032=) c.3072A>G (p.Ala1024=) c.2907A>G (p.Ala969=) c.3069A>G (p.Ala1023=) | |
1 | g.16986926T>G | CA416093775 | ATP13A2 | c.3114A>C (p.Ala1038=) c.2982A>C (p.Ala994=) c.3099A>C (p.Ala1033=) n.988A>C c.702A>C (p.Ala234=) c.3111A>C (p.Ala1037=) c.3087A>C (p.Ala1029=) c.3054A>C (p.Ala1018=) c.2997A>C (p.Ala999=) c.3096A>C (p.Ala1032=) c.3072A>C (p.Ala1024=) c.2907A>C (p.Ala969=) c.3069A>C (p.Ala1023=) | |
1 | g.16986927G>A | CA338233864 | ATP13A2 | c.3113C>T (p.Ala1038Val) c.2981C>T (p.Ala994Val) c.3098C>T (p.Ala1033Val) n.987C>T c.701C>T (p.Ala234Val) c.3110C>T (p.Ala1037Val) c.3086C>T (p.Ala1029Val) c.3053C>T (p.Ala1018Val) c.2996C>T (p.Ala999Val) c.3095C>T (p.Ala1032Val) c.3071C>T (p.Ala1024Val) c.2906C>T (p.Ala969Val) c.3068C>T (p.Ala1023Val) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.16986927G>C | CA338233876 | ATP13A2 | c.3113C>G (p.Ala1038Gly) c.2981C>G (p.Ala994Gly) c.3098C>G (p.Ala1033Gly) n.987C>G c.701C>G (p.Ala234Gly) c.3110C>G (p.Ala1037Gly) c.3086C>G (p.Ala1029Gly) c.3053C>G (p.Ala1018Gly) c.2996C>G (p.Ala999Gly) c.3095C>G (p.Ala1032Gly) c.3071C>G (p.Ala1024Gly) c.2906C>G (p.Ala969Gly) c.3068C>G (p.Ala1023Gly) | |
1 | g.16986927G= | CA1156050606 | ATP13A2 | c.3113C= (p.Ala1038=) c.2981C= (p.Ala994=) c.3098C= (p.Ala1033=) n.987C= c.701C= (p.Ala234=) c.3110C= (p.Ala1037=) c.3086C= (p.Ala1029=) c.3053C= (p.Ala1018=) c.2996C= (p.Ala999=) c.3095C= (p.Ala1032=) c.3071C= (p.Ala1024=) c.2906C= (p.Ala969=) c.3068C= (p.Ala1023=) | |
1 | g.16986927G>T | CA338233879 | ATP13A2 | c.3113C>A (p.Ala1038Glu) c.2981C>A (p.Ala994Glu) c.3098C>A (p.Ala1033Glu) n.987C>A c.701C>A (p.Ala234Glu) c.3110C>A (p.Ala1037Glu) c.3086C>A (p.Ala1029Glu) c.3053C>A (p.Ala1018Glu) c.2996C>A (p.Ala999Glu) c.3095C>A (p.Ala1032Glu) c.3071C>A (p.Ala1024Glu) c.2906C>A (p.Ala969Glu) c.3068C>A (p.Ala1023Glu) | |
1 | g.16986928C>A | CA338233881 | ATP13A2 | c.3112G>T (p.Ala1038Ser) c.2980G>T (p.Ala994Ser) c.3097G>T (p.Ala1033Ser) n.986G>T c.700G>T (p.Ala234Ser) c.3109G>T (p.Ala1037Ser) c.3085G>T (p.Ala1029Ser) c.3052G>T (p.Ala1018Ser) c.2995G>T (p.Ala999Ser) c.3094G>T (p.Ala1032Ser) c.3070G>T (p.Ala1024Ser) c.2905G>T (p.Ala969Ser) c.3067G>T (p.Ala1023Ser) | |
1 | g.16986928C= | CA1156050613 | ATP13A2 | c.3112G= (p.Ala1038=) c.2980G= (p.Ala994=) c.3097G= (p.Ala1033=) n.986G= c.700G= (p.Ala234=) c.3109G= (p.Ala1037=) c.3085G= (p.Ala1029=) c.3052G= (p.Ala1018=) c.2995G= (p.Ala999=) c.3094G= (p.Ala1032=) c.3070G= (p.Ala1024=) c.2905G= (p.Ala969=) c.3067G= (p.Ala1023=) | |
1 | g.16986928C>G | CA338233884 | ATP13A2 | c.3112G>C (p.Ala1038Pro) c.2980G>C (p.Ala994Pro) c.3097G>C (p.Ala1033Pro) n.986G>C c.700G>C (p.Ala234Pro) c.3109G>C (p.Ala1037Pro) c.3085G>C (p.Ala1029Pro) c.3052G>C (p.Ala1018Pro) c.2995G>C (p.Ala999Pro) c.3094G>C (p.Ala1032Pro) c.3070G>C (p.Ala1024Pro) c.2905G>C (p.Ala969Pro) c.3067G>C (p.Ala1023Pro) | |
1 | g.16986928C>T | CA636595 | ATP13A2 | c.3112G>A (p.Ala1038Thr) c.2980G>A (p.Ala994Thr) c.3097G>A (p.Ala1033Thr) n.986G>A c.700G>A (p.Ala234Thr) c.3109G>A (p.Ala1037Thr) c.3085G>A (p.Ala1029Thr) c.3052G>A (p.Ala1018Thr) c.2995G>A (p.Ala999Thr) c.3094G>A (p.Ala1032Thr) c.3070G>A (p.Ala1024Thr) c.2905G>A (p.Ala969Thr) c.3067G>A (p.Ala1023Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.16986929G>A | CA636596 | ATP13A2 | c.3111C>T (p.Ala1037=) c.2979C>T (p.Ala993=) c.3096C>T (p.Ala1032=) n.985C>T c.699C>T (p.Ala233=) c.3108C>T (p.Ala1036=) c.3084C>T (p.Ala1028=) c.3051C>T (p.Ala1017=) c.2994C>T (p.Ala998=) c.3093C>T (p.Ala1031=) c.3069C>T (p.Ala1023=) c.2904C>T (p.Ala968=) c.3066C>T (p.Ala1022=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16986929G>C | CA416093780 | ATP13A2 | c.3111C>G (p.Ala1037=) c.2979C>G (p.Ala993=) c.3096C>G (p.Ala1032=) n.985C>G c.699C>G (p.Ala233=) c.3108C>G (p.Ala1036=) c.3084C>G (p.Ala1028=) c.3051C>G (p.Ala1017=) c.2994C>G (p.Ala998=) c.3093C>G (p.Ala1031=) c.3069C>G (p.Ala1023=) c.2904C>G (p.Ala968=) c.3066C>G (p.Ala1022=) | |
1 | g.16986929G= | CA1145071048 | ATP13A2 | c.3111C= (p.Ala1037=) c.2979C= (p.Ala993=) c.3096C= (p.Ala1032=) n.985C= c.699C= (p.Ala233=) c.3108C= (p.Ala1036=) c.3084C= (p.Ala1028=) c.3051C= (p.Ala1017=) c.2994C= (p.Ala998=) c.3093C= (p.Ala1031=) c.3069C= (p.Ala1023=) c.2904C= (p.Ala968=) c.3066C= (p.Ala1022=) | |
1 | g.16986929G>T | CA416093779 | ATP13A2 | c.3111C>A (p.Ala1037=) c.2979C>A (p.Ala993=) c.3096C>A (p.Ala1032=) n.985C>A c.699C>A (p.Ala233=) c.3108C>A (p.Ala1036=) c.3084C>A (p.Ala1028=) c.3051C>A (p.Ala1017=) c.2994C>A (p.Ala998=) c.3093C>A (p.Ala1031=) c.3069C>A (p.Ala1023=) c.2904C>A (p.Ala968=) c.3066C>A (p.Ala1022=) | |
1 | g.16986930G>A | CA338233889 | ATP13A2 | c.3110C>T (p.Ala1037Val) c.2978C>T (p.Ala993Val) c.3095C>T (p.Ala1032Val) n.984C>T c.698C>T (p.Ala233Val) c.3107C>T (p.Ala1036Val) c.3083C>T (p.Ala1028Val) c.3050C>T (p.Ala1017Val) c.2993C>T (p.Ala998Val) c.3092C>T (p.Ala1031Val) c.3068C>T (p.Ala1023Val) c.2903C>T (p.Ala968Val) c.3065C>T (p.Ala1022Val) | gnomAD v4 |
1 | g.16986930G>C | CA338233887 | ATP13A2 | c.3110C>G (p.Ala1037Gly) c.2978C>G (p.Ala993Gly) c.3095C>G (p.Ala1032Gly) n.984C>G c.698C>G (p.Ala233Gly) c.3107C>G (p.Ala1036Gly) c.3083C>G (p.Ala1028Gly) c.3050C>G (p.Ala1017Gly) c.2993C>G (p.Ala998Gly) c.3092C>G (p.Ala1031Gly) c.3068C>G (p.Ala1023Gly) c.2903C>G (p.Ala968Gly) c.3065C>G (p.Ala1022Gly) | |
1 | g.16986930G>T | CA338233888 | ATP13A2 | c.3110C>A (p.Ala1037Asp) c.2978C>A (p.Ala993Asp) c.3095C>A (p.Ala1032Asp) n.984C>A c.698C>A (p.Ala233Asp) c.3107C>A (p.Ala1036Asp) c.3083C>A (p.Ala1028Asp) c.3050C>A (p.Ala1017Asp) c.2993C>A (p.Ala998Asp) c.3092C>A (p.Ala1031Asp) c.3068C>A (p.Ala1023Asp) c.2903C>A (p.Ala968Asp) c.3065C>A (p.Ala1022Asp) | |
1 | g.16986931C>A | CA338233890 | ATP13A2 | c.3109G>T (p.Ala1037Ser) c.2977G>T (p.Ala993Ser) c.3094G>T (p.Ala1032Ser) n.983G>T c.697G>T (p.Ala233Ser) c.3106G>T (p.Ala1036Ser) c.3082G>T (p.Ala1028Ser) c.3049G>T (p.Ala1017Ser) c.2992G>T (p.Ala998Ser) c.3091G>T (p.Ala1031Ser) c.3067G>T (p.Ala1023Ser) c.2902G>T (p.Ala968Ser) c.3064G>T (p.Ala1022Ser) | |
1 | g.16986931C>G | CA338233891 | ATP13A2 | c.3109G>C (p.Ala1037Pro) c.2977G>C (p.Ala993Pro) c.3094G>C (p.Ala1032Pro) n.983G>C c.697G>C (p.Ala233Pro) c.3106G>C (p.Ala1036Pro) c.3082G>C (p.Ala1028Pro) c.3049G>C (p.Ala1017Pro) c.2992G>C (p.Ala998Pro) c.3091G>C (p.Ala1031Pro) c.3067G>C (p.Ala1023Pro) c.2902G>C (p.Ala968Pro) c.3064G>C (p.Ala1022Pro) | dbSNP |
1 | g.16986931C>T | CA338233894 | ATP13A2 | c.3109G>A (p.Ala1037Thr) c.2977G>A (p.Ala993Thr) c.3094G>A (p.Ala1032Thr) n.983G>A c.697G>A (p.Ala233Thr) c.3106G>A (p.Ala1036Thr) c.3082G>A (p.Ala1028Thr) c.3049G>A (p.Ala1017Thr) c.2992G>A (p.Ala998Thr) c.3091G>A (p.Ala1031Thr) c.3067G>A (p.Ala1023Thr) c.2902G>A (p.Ala968Thr) c.3064G>A (p.Ala1022Thr) | |
1 | g.16986932C>A | CA18625836 | ATP13A2 | c.3108G>T (p.Val1036=) c.2976G>T (p.Val992=) c.3093G>T (p.Val1031=) n.982G>T c.696G>T (p.Val232=) c.3105G>T (p.Val1035=) c.3081G>T (p.Val1027=) c.3048G>T (p.Val1016=) c.2991G>T (p.Val997=) c.3090G>T (p.Val1030=) c.3066G>T (p.Val1022=) c.2901G>T (p.Val967=) c.3063G>T (p.Val1021=) | dbSNP |
1 | g.16986932C= | CA1156050622 | ATP13A2 | c.3108G= (p.Val1036=) c.2976G= (p.Val992=) c.3093G= (p.Val1031=) n.982G= c.696G= (p.Val232=) c.3105G= (p.Val1035=) c.3081G= (p.Val1027=) c.3048G= (p.Val1016=) c.2991G= (p.Val997=) c.3090G= (p.Val1030=) c.3066G= (p.Val1022=) c.2901G= (p.Val967=) c.3063G= (p.Val1021=) | |
1 | g.16986932C>G | CA416093791 | ATP13A2 | c.3108G>C (p.Val1036=) c.2976G>C (p.Val992=) c.3093G>C (p.Val1031=) n.982G>C c.696G>C (p.Val232=) c.3105G>C (p.Val1035=) c.3081G>C (p.Val1027=) c.3048G>C (p.Val1016=) c.2991G>C (p.Val997=) c.3090G>C (p.Val1030=) c.3066G>C (p.Val1022=) c.2901G>C (p.Val967=) c.3063G>C (p.Val1021=) | |
1 | g.16986932C>T | CA416093785 | ATP13A2 | c.3108G>A (p.Val1036=) c.2976G>A (p.Val992=) c.3093G>A (p.Val1031=) n.982G>A c.696G>A (p.Val232=) c.3105G>A (p.Val1035=) c.3081G>A (p.Val1027=) c.3048G>A (p.Val1016=) c.2991G>A (p.Val997=) c.3090G>A (p.Val1030=) c.3066G>A (p.Val1022=) c.2901G>A (p.Val967=) c.3063G>A (p.Val1021=) | |
1 | g.16986933A>C | CA338233896 | ATP13A2 | c.3107T>G (p.Val1036Gly) c.2975T>G (p.Val992Gly) c.3092T>G (p.Val1031Gly) n.981T>G c.695T>G (p.Val232Gly) c.3104T>G (p.Val1035Gly) c.3080T>G (p.Val1027Gly) c.3047T>G (p.Val1016Gly) c.2990T>G (p.Val997Gly) c.3089T>G (p.Val1030Gly) c.3065T>G (p.Val1022Gly) c.2900T>G (p.Val967Gly) c.3062T>G (p.Val1021Gly) | |
1 | g.16986933A>G | CA338233898 | ATP13A2 | c.3107T>C (p.Val1036Ala) c.2975T>C (p.Val992Ala) c.3092T>C (p.Val1031Ala) n.981T>C c.695T>C (p.Val232Ala) c.3104T>C (p.Val1035Ala) c.3080T>C (p.Val1027Ala) c.3047T>C (p.Val1016Ala) c.2990T>C (p.Val997Ala) c.3089T>C (p.Val1030Ala) c.3065T>C (p.Val1022Ala) c.2900T>C (p.Val967Ala) c.3062T>C (p.Val1021Ala) | |
1 | g.16986933A>T | CA338233902 | ATP13A2 | c.3107T>A (p.Val1036Glu) c.2975T>A (p.Val992Glu) c.3092T>A (p.Val1031Glu) n.981T>A c.695T>A (p.Val232Glu) c.3104T>A (p.Val1035Glu) c.3080T>A (p.Val1027Glu) c.3047T>A (p.Val1016Glu) c.2990T>A (p.Val997Glu) c.3089T>A (p.Val1030Glu) c.3065T>A (p.Val1022Glu) c.2900T>A (p.Val967Glu) c.3062T>A (p.Val1021Glu) |