UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.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 |