Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.16986894A>CCA338233641ATP13A2c.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)
1g.16986894A>GCA338233642ATP13A2c.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)
1g.16986894A>TCA338233646ATP13A2c.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)
1g.16986895C>ACA338233647ATP13A2c.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)
1g.16986895C=CA1156050512ATP13A2c.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=)
1g.16986895C>GCA338233648ATP13A2c.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)
1g.16986895C>TCA636589ATP13A2c.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
1g.16986896G>ACA416093735ATP13A2c.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
1g.16986896G>CCA151957ATP13A2c.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
1g.16986896G=CA1140633704ATP13A2c.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=)
1g.16986896G>TCA416093736ATP13A2c.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
1g.16986897G>ACA338233654ATP13A2c.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)
1g.16986897G>CCA338233655ATP13A2c.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)
1g.16986897G>TCA338233656ATP13A2c.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)
1g.16986898T>ACA338233658ATP13A2c.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)
1g.16986898T>CCA338233659ATP13A2c.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)
1g.16986898T>GCA338233657ATP13A2c.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)
1g.16986899G>ACA416093743ATP13A2c.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
1g.16986899G>CCA338233662ATP13A2c.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)
1g.16986899G=CA1156050524ATP13A2c.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=)
1g.16986899G>TCA338233671ATP13A2c.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)
1g.16986900T>ACA338233674ATP13A2c.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)
1g.16986900T>CCA338233677ATP13A2c.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)
1g.16986900T>GCA338233678ATP13A2c.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)
1g.16986901T>ACA338233681ATP13A2c.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)
1g.16986901T>CCA338233683ATP13A2c.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)
1g.16986901T>GCA338233684ATP13A2c.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)
1g.16986902C>ACA338233685ATP13A2c.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)
1g.16986902C>GCA338233689ATP13A2c.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
1g.16986902C>TCA416093746ATP13A2c.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
1g.16986903T>ACA338233691ATP13A2c.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)
1g.16986903T>CCA338233694ATP13A2c.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
1g.16986903T>GCA338233695ATP13A2c.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)
1g.16986903T=CA1156050530ATP13A2c.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=)
1g.16986904C>ACA338233699ATP13A2c.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
1g.16986904C=CA1156050534ATP13A2c.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=)
1g.16986904C>GCA338233707ATP13A2c.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)
1g.16986904C>TCA338233700ATP13A2c.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
1g.16986905delCA2586964000ATP13A2c.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)
1g.16986905G>ACA18625785ATP13A2c.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
1g.16986905G>CCA338233719ATP13A2c.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)
1g.16986905G=CA1156050537ATP13A2c.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=)
1g.16986905G>TCA338233721ATP13A2c.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)
1g.16986906T>ACA338233726ATP13A2c.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)
1g.16986906T>CCA338233729ATP13A2c.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
1g.16986906T>GCA338233733ATP13A2c.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)
1g.16986906T=CA1156050546ATP13A2c.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=)
1g.16986907A>CCA338233735ATP13A2c.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)
1g.16986907A>GCA338233738ATP13A2c.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)
1g.16986907A>TCA338233739ATP13A2c.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)

Number of alleles fetched