| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | dbSNP 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.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 |