Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.16986889_16986891delCA16043958ATP13A2c.3152_3154del (p.Phe1051del)
c.3020_3022del (p.Phe1007del)
c.3137_3139del (p.Phe1046del)
n.1026_1028del
n.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
1g.16986887_16986889delinsGAACA1156050500ATP13A2c.3151_3153delinsTTC (p.Phe1051=)
c.3019_3021delinsTTC (p.Phe1007=)
c.3136_3138delinsTTC (p.Phe1046=)
n.1025_1027delinsTTC
n.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=)
1g.16986888_16986889delCA1156050503ATP13A2c.3151_3152del (p.Phe1051LeufsTer?)
c.3019_3020del (p.Phe1007LeufsTer28)
c.3136_3137del (p.Phe1046LeufsTer?)
n.1025_1026del
n.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
1g.16986889A=CA1156050507ATP13A2c.3151T= (p.Phe1051=)
c.3019T= (p.Phe1007=)
c.3136T= (p.Phe1046=)
n.1025T=
n.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=)
1g.16986889A>CCA338233625ATP13A2c.3151T>G (p.Phe1051Val)
c.3019T>G (p.Phe1007Val)
c.3136T>G (p.Phe1046Val)
n.1025T>G
n.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)
gnomAD
1g.16986889A>GCA338233627ATP13A2c.3151T>C (p.Phe1051Leu)
c.3019T>C (p.Phe1007Leu)
c.3136T>C (p.Phe1046Leu)
n.1025T>C
n.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)
1g.16986889A>TCA338233628ATP13A2c.3151T>A (p.Phe1051Ile)
c.3019T>A (p.Phe1007Ile)
c.3136T>A (p.Phe1046Ile)
n.1025T>A
n.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)
1g.16986890G>ACA416093727ATP13A2c.3150C>T (p.Val1050=)
c.3018C>T (p.Val1006=)
c.3135C>T (p.Val1045=)
n.1024C>T
n.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=)
1g.16986890G>CCA416093728ATP13A2c.3150C>G (p.Val1050=)
c.3018C>G (p.Val1006=)
c.3135C>G (p.Val1045=)
n.1024C>G
n.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
1g.16986890G>TCA416093729ATP13A2c.3150C>A (p.Val1050=)
c.3018C>A (p.Val1006=)
c.3135C>A (p.Val1045=)
n.1024C>A
n.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=)
1g.16986891A>CCA338233634ATP13A2c.3149T>G (p.Val1050Gly)
c.3017T>G (p.Val1006Gly)
c.3134T>G (p.Val1045Gly)
n.1023T>G
n.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)
1g.16986891A>GCA338233633ATP13A2c.3149T>C (p.Val1050Ala)
c.3017T>C (p.Val1006Ala)
c.3134T>C (p.Val1045Ala)
n.1023T>C
n.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)
1g.16986891A>TCA338233630ATP13A2c.3149T>A (p.Val1050Asp)
c.3017T>A (p.Val1006Asp)
c.3134T>A (p.Val1045Asp)
n.1023T>A
n.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)
1g.16986892C>ACA338233636ATP13A2c.3148G>T (p.Val1050Phe)
c.3016G>T (p.Val1006Phe)
c.3133G>T (p.Val1045Phe)
n.1022G>T
n.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)
1g.16986892C>GCA338233637ATP13A2c.3148G>C (p.Val1050Leu)
c.3016G>C (p.Val1006Leu)
c.3133G>C (p.Val1045Leu)
n.1022G>C
n.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)
1g.16986892C>TCA338233639ATP13A2c.3148G>A (p.Val1050Ile)
c.3016G>A (p.Val1006Ile)
c.3133G>A (p.Val1045Ile)
n.1022G>A
n.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)
1g.16986893C>ACA416093731ATP13A2c.3147G>T (p.Val1049=)
c.3015G>T (p.Val1005=)
c.3132G>T (p.Val1044=)
n.1021G>T
n.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=)
1g.16986893C>GCA416093732ATP13A2c.3147G>C (p.Val1049=)
c.3015G>C (p.Val1005=)
c.3132G>C (p.Val1044=)
n.1021G>C
n.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=)
1g.16986893C>TCA416093733ATP13A2c.3147G>A (p.Val1049=)
c.3015G>A (p.Val1005=)
c.3132G>A (p.Val1044=)
n.1021G>A
n.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=)
1g.16986894A>CCA338233641ATP13A2c.3146T>G (p.Val1049Gly)
c.3014T>G (p.Val1005Gly)
c.3131T>G (p.Val1044Gly)
n.1020T>G
n.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)
1g.16986894A>GCA338233642ATP13A2c.3146T>C (p.Val1049Ala)
c.3014T>C (p.Val1005Ala)
c.3131T>C (p.Val1044Ala)
n.1020T>C
n.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)
1g.16986894A>TCA338233646ATP13A2c.3146T>A (p.Val1049Glu)
c.3014T>A (p.Val1005Glu)
c.3131T>A (p.Val1044Glu)
n.1020T>A
n.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)
1g.16986895C>ACA338233647ATP13A2c.3145G>T (p.Val1049Leu)
c.3013G>T (p.Val1005Leu)
c.3130G>T (p.Val1044Leu)
n.1019G>T
n.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)
1g.16986895C=CA1156050512ATP13A2c.3145G= (p.Val1049=)
c.3013G= (p.Val1005=)
c.3130G= (p.Val1044=)
n.1019G=
n.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=)
1g.16986895C>GCA338233648ATP13A2c.3145G>C (p.Val1049Leu)
c.3013G>C (p.Val1005Leu)
c.3130G>C (p.Val1044Leu)
n.1019G>C
n.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)
1g.16986895C>TCA636589ATP13A2c.3145G>A (p.Val1049Met)
c.3013G>A (p.Val1005Met)
c.3130G>A (p.Val1044Met)
n.1019G>A
n.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
1g.16986896G>ACA416093735ATP13A2c.3144C>T (p.Thr1048=)
c.3012C>T (p.Thr1004=)
c.3129C>T (p.Thr1043=)
n.1018C>T
n.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=)
1g.16986896G>CCA151957ATP13A2c.3144C>G (p.Thr1048=)
c.3012C>G (p.Thr1004=)
c.3129C>G (p.Thr1043=)
n.1018C>G
n.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
1g.16986896G=CA1140633704ATP13A2c.3144C= (p.Thr1048=)
c.3012C= (p.Thr1004=)
c.3129C= (p.Thr1043=)
n.1018C=
n.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=)
1g.16986896G>TCA416093736ATP13A2c.3144C>A (p.Thr1048=)
c.3012C>A (p.Thr1004=)
c.3129C>A (p.Thr1043=)
n.1018C>A
n.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=)
1g.16986897G>ACA338233654ATP13A2c.3143C>T (p.Thr1048Ile)
c.3011C>T (p.Thr1004Ile)
c.3128C>T (p.Thr1043Ile)
n.1017C>T
n.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)
1g.16986897G>CCA338233655ATP13A2c.3143C>G (p.Thr1048Ser)
c.3011C>G (p.Thr1004Ser)
c.3128C>G (p.Thr1043Ser)
n.1017C>G
n.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)
1g.16986897G>TCA338233656ATP13A2c.3143C>A (p.Thr1048Asn)
c.3011C>A (p.Thr1004Asn)
c.3128C>A (p.Thr1043Asn)
n.1017C>A
n.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)
1g.16986898T>ACA338233658ATP13A2c.3142A>T (p.Thr1048Ser)
c.3010A>T (p.Thr1004Ser)
c.3127A>T (p.Thr1043Ser)
n.1016A>T
n.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)
1g.16986898T>CCA338233659ATP13A2c.3142A>G (p.Thr1048Ala)
c.3010A>G (p.Thr1004Ala)
c.3127A>G (p.Thr1043Ala)
n.1016A>G
n.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)
1g.16986898T>GCA338233657ATP13A2c.3142A>C (p.Thr1048Pro)
c.3010A>C (p.Thr1004Pro)
c.3127A>C (p.Thr1043Pro)
n.1016A>C
n.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)
1g.16986899G>ACA416093743ATP13A2c.3141C>T (p.Asn1047=)
c.3009C>T (p.Asn1003=)
c.3126C>T (p.Asn1042=)
n.1015C>T
n.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=)
1g.16986899G>CCA338233662ATP13A2c.3141C>G (p.Asn1047Lys)
c.3009C>G (p.Asn1003Lys)
c.3126C>G (p.Asn1042Lys)
n.1015C>G
n.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)
1g.16986899G=CA1156050524ATP13A2c.3141C= (p.Asn1047=)
c.3009C= (p.Asn1003=)
c.3126C= (p.Asn1042=)
n.1015C=
n.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=)
1g.16986899G>TCA338233671ATP13A2c.3141C>A (p.Asn1047Lys)
c.3009C>A (p.Asn1003Lys)
c.3126C>A (p.Asn1042Lys)
n.1015C>A
n.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)
1g.16986900T>ACA338233674ATP13A2c.3140A>T (p.Asn1047Ile)
c.3008A>T (p.Asn1003Ile)
c.3125A>T (p.Asn1042Ile)
n.1014A>T
n.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)
1g.16986900T>CCA338233677ATP13A2c.3140A>G (p.Asn1047Ser)
c.3008A>G (p.Asn1003Ser)
c.3125A>G (p.Asn1042Ser)
n.1014A>G
n.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)
1g.16986900T>GCA338233678ATP13A2c.3140A>C (p.Asn1047Thr)
c.3008A>C (p.Asn1003Thr)
c.3125A>C (p.Asn1042Thr)
n.1014A>C
n.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)
1g.16986901T>ACA338233681ATP13A2c.3139A>T (p.Asn1047Tyr)
c.3007A>T (p.Asn1003Tyr)
c.3124A>T (p.Asn1042Tyr)
n.1013A>T
n.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)
1g.16986901T>CCA338233683ATP13A2c.3139A>G (p.Asn1047Asp)
c.3007A>G (p.Asn1003Asp)
c.3124A>G (p.Asn1042Asp)
n.1013A>G
n.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)
1g.16986901T>GCA338233684ATP13A2c.3139A>C (p.Asn1047His)
c.3007A>C (p.Asn1003His)
c.3124A>C (p.Asn1042His)
n.1013A>C
n.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)
1g.16986902C>ACA338233685ATP13A2c.3138G>T (p.Glu1046Asp)
c.3006G>T (p.Glu1002Asp)
c.3123G>T (p.Glu1041Asp)
n.1012G>T
n.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)
1g.16986902C>GCA338233689ATP13A2c.3138G>C (p.Glu1046Asp)
c.3006G>C (p.Glu1002Asp)
c.3123G>C (p.Glu1041Asp)
n.1012G>C
n.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
1g.16986902C>TCA416093746ATP13A2c.3138G>A (p.Glu1046=)
c.3006G>A (p.Glu1002=)
c.3123G>A (p.Glu1041=)
n.1012G>A
n.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=)
1g.16986903T>ACA338233691ATP13A2c.3137A>T (p.Glu1046Val)
c.3005A>T (p.Glu1002Val)
c.3122A>T (p.Glu1041Val)
n.1011A>T
n.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)

Number of alleles fetched