Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.154588154dup | CA2844128259 | ADAR | c.2885dup (n.2885dup) c.3021dup (p.Gly1008ArgfsTer20) c.2874dup (p.Gly959ArgfsTer20) c.2643dup (p.Gly882ArgfsTer20) c.2106dup (p.Gly703ArgfsTer20) c.2991dup (p.Gly998ArgfsTer20) c.2913dup (p.Gly972ArgfsTer20) n.2976dup c.*466dup (n.*466dup) n.3319dup c.2991dup (p.Gly998ArgfsTer24) c.*1223dup (n.*1223dup) n.3444dup c.2049dup (p.Gly684ArgfsTer20) c.2991dup (p.Gly998ArgfsTer?) c.*2513dup (n.*2513dup) n.2251dup c.*2591dup (n.*2591dup) c.2898dup (p.Gly967ArgfsTer20) n.128dup n.450dup c.2856dup (p.Gly953ArgfsTer20) c.3120dup (p.Gly1041ArgfsTer20) c.3042dup (p.Gly1015ArgfsTer20) c.3009dup (p.Gly1004ArgfsTer20) c.3018dup (p.Gly1007ArgfsTer20) c.2028dup (p.Gly677ArgfsTer20) | |
1 | g.154588154T>A | CA342635980 | ADAR | c.2884A>T (n.2884A>T) c.3020A>T (p.Gln1007Leu) c.2873A>T (p.Gln958Leu) c.2642A>T (p.Gln881Leu) c.2105A>T (p.Gln702Leu) c.2990A>T (p.Gln997Leu) c.2912A>T (p.Gln971Leu) n.2975A>T c.*465A>T (n.*465A>T) n.3318A>T c.*1222A>T (n.*1222A>T) n.3443A>T c.2048A>T (p.Gln683Leu) c.*2512A>T (n.*2512A>T) n.2250A>T c.*2590A>T (n.*2590A>T) c.2897A>T (p.Gln966Leu) n.127A>T n.449A>T c.2855A>T (p.Gln952Leu) c.3119A>T (p.Gln1040Leu) c.3041A>T (p.Gln1014Leu) c.3008A>T (p.Gln1003Leu) c.3017A>T (p.Gln1006Leu) c.2027A>T (p.Gln676Leu) | |
1 | g.154588154T>C | CA342635981 | ADAR | c.2884A>G (n.2884A>G) c.3020A>G (p.Gln1007Arg) c.2873A>G (p.Gln958Arg) c.2642A>G (p.Gln881Arg) c.2105A>G (p.Gln702Arg) c.2990A>G (p.Gln997Arg) c.2912A>G (p.Gln971Arg) n.2975A>G c.*465A>G (n.*465A>G) n.3318A>G c.*1222A>G (n.*1222A>G) n.3443A>G c.2048A>G (p.Gln683Arg) c.*2512A>G (n.*2512A>G) n.2250A>G c.*2590A>G (n.*2590A>G) c.2897A>G (p.Gln966Arg) n.127A>G n.449A>G c.2855A>G (p.Gln952Arg) c.3119A>G (p.Gln1040Arg) c.3041A>G (p.Gln1014Arg) c.3008A>G (p.Gln1003Arg) c.3017A>G (p.Gln1006Arg) c.2027A>G (p.Gln676Arg) | |
1 | g.154588154T>G | CA342635982 | ADAR | c.2884A>C (n.2884A>C) c.3020A>C (p.Gln1007Pro) c.2873A>C (p.Gln958Pro) c.2642A>C (p.Gln881Pro) c.2105A>C (p.Gln702Pro) c.2990A>C (p.Gln997Pro) c.2912A>C (p.Gln971Pro) n.2975A>C c.*465A>C (n.*465A>C) n.3318A>C c.*1222A>C (n.*1222A>C) n.3443A>C c.2048A>C (p.Gln683Pro) c.*2512A>C (n.*2512A>C) n.2250A>C c.*2590A>C (n.*2590A>C) c.2897A>C (p.Gln966Pro) n.127A>C n.449A>C c.2855A>C (p.Gln952Pro) c.3119A>C (p.Gln1040Pro) c.3041A>C (p.Gln1014Pro) c.3008A>C (p.Gln1003Pro) c.3017A>C (p.Gln1006Pro) c.2027A>C (p.Gln676Pro) | |
1 | g.154588155G>A | CA342635983 | ADAR | c.2883C>T (n.2883C>T) c.3019C>T (p.Gln1007Ter) c.2872C>T (p.Gln958Ter) c.2641C>T (p.Gln881Ter) c.2104C>T (p.Gln702Ter) c.2989C>T (p.Gln997Ter) c.2911C>T (p.Gln971Ter) n.2974C>T c.*464C>T (n.*464C>T) n.3317C>T c.*1221C>T (n.*1221C>T) n.3442C>T c.2047C>T (p.Gln683Ter) c.*2511C>T (n.*2511C>T) n.2249C>T c.*2589C>T (n.*2589C>T) c.2896C>T (p.Gln966Ter) n.126C>T n.448C>T c.2854C>T (p.Gln952Ter) c.3118C>T (p.Gln1040Ter) c.3040C>T (p.Gln1014Ter) c.3007C>T (p.Gln1003Ter) c.3016C>T (p.Gln1006Ter) c.2026C>T (p.Gln676Ter) | dbSNP gnomAD v2 |
1 | g.154588155G>C | CA342635984 | ADAR | c.2883C>G (n.2883C>G) c.3019C>G (p.Gln1007Glu) c.2872C>G (p.Gln958Glu) c.2641C>G (p.Gln881Glu) c.2104C>G (p.Gln702Glu) c.2989C>G (p.Gln997Glu) c.2911C>G (p.Gln971Glu) n.2974C>G c.*464C>G (n.*464C>G) n.3317C>G c.*1221C>G (n.*1221C>G) n.3442C>G c.2047C>G (p.Gln683Glu) c.*2511C>G (n.*2511C>G) n.2249C>G c.*2589C>G (n.*2589C>G) c.2896C>G (p.Gln966Glu) n.126C>G n.448C>G c.2854C>G (p.Gln952Glu) c.3118C>G (p.Gln1040Glu) c.3040C>G (p.Gln1014Glu) c.3007C>G (p.Gln1003Glu) c.3016C>G (p.Gln1006Glu) c.2026C>G (p.Gln676Glu) | |
1 | g.154588155G= | CA2480932513 | ADAR | c.2883C= (n.2883C=) c.3019C= (p.Gln1007=) c.2872C= (p.Gln958=) c.2641C= (p.Gln881=) c.2104C= (p.Gln702=) c.2989C= (p.Gln997=) c.2911C= (p.Gln971=) n.2974C= c.*464C= (n.*464C=) n.3317C= c.*1221C= (n.*1221C=) n.3442C= c.2047C= (p.Gln683=) c.*2511C= (n.*2511C=) n.2249C= c.*2589C= (n.*2589C=) c.2896C= (p.Gln966=) n.126C= n.448C= c.2854C= (p.Gln952=) c.3118C= (p.Gln1040=) c.3040C= (p.Gln1014=) c.3007C= (p.Gln1003=) c.3016C= (p.Gln1006=) c.2026C= (p.Gln676=) | |
1 | g.154588155G>T | CA342635985 | ADAR | c.2883C>A (n.2883C>A) c.3019C>A (p.Gln1007Lys) c.2872C>A (p.Gln958Lys) c.2641C>A (p.Gln881Lys) c.2104C>A (p.Gln702Lys) c.2989C>A (p.Gln997Lys) c.2911C>A (p.Gln971Lys) n.2974C>A c.*464C>A (n.*464C>A) n.3317C>A c.*1221C>A (n.*1221C>A) n.3442C>A c.2047C>A (p.Gln683Lys) c.*2511C>A (n.*2511C>A) n.2249C>A c.*2589C>A (n.*2589C>A) c.2896C>A (p.Gln966Lys) n.126C>A n.448C>A c.2854C>A (p.Gln952Lys) c.3118C>A (p.Gln1040Lys) c.3040C>A (p.Gln1014Lys) c.3007C>A (p.Gln1003Lys) c.3016C>A (p.Gln1006Lys) c.2026C>A (p.Gln676Lys) | |
1 | g.154588156T>A | CA342635987 | ADAR | c.2882A>T (n.2882A>T) c.3018A>T (p.Lys1006Asn) c.2871A>T (p.Lys957Asn) c.2640A>T (p.Lys880Asn) c.2103A>T (p.Lys701Asn) c.2988A>T (p.Lys996Asn) c.2910A>T (p.Lys970Asn) n.2973A>T c.*463A>T (n.*463A>T) n.3316A>T c.*1220A>T (n.*1220A>T) n.3441A>T c.2046A>T (p.Lys682Asn) c.*2510A>T (n.*2510A>T) n.2248A>T c.*2588A>T (n.*2588A>T) c.2895A>T (p.Lys965Asn) n.125A>T n.447A>T c.2853A>T (p.Lys951Asn) c.3117A>T (p.Lys1039Asn) c.3039A>T (p.Lys1013Asn) c.3006A>T (p.Lys1002Asn) c.3015A>T (p.Lys1005Asn) c.2025A>T (p.Lys675Asn) | |
1 | g.154588156T>C | CA420975092 | ADAR | c.2882A>G (n.2882A>G) c.3018A>G (p.Lys1006=) c.2871A>G (p.Lys957=) c.2640A>G (p.Lys880=) c.2103A>G (p.Lys701=) c.2988A>G (p.Lys996=) c.2910A>G (p.Lys970=) n.2973A>G c.*463A>G (n.*463A>G) n.3316A>G c.*1220A>G (n.*1220A>G) n.3441A>G c.2046A>G (p.Lys682=) c.*2510A>G (n.*2510A>G) n.2248A>G c.*2588A>G (n.*2588A>G) c.2895A>G (p.Lys965=) n.125A>G n.447A>G c.2853A>G (p.Lys951=) c.3117A>G (p.Lys1039=) c.3039A>G (p.Lys1013=) c.3006A>G (p.Lys1002=) c.3015A>G (p.Lys1005=) c.2025A>G (p.Lys675=) | |
1 | g.154588156T>G | CA342635986 | ADAR | c.2882A>C (n.2882A>C) c.3018A>C (p.Lys1006Asn) c.2871A>C (p.Lys957Asn) c.2640A>C (p.Lys880Asn) c.2103A>C (p.Lys701Asn) c.2988A>C (p.Lys996Asn) c.2910A>C (p.Lys970Asn) n.2973A>C c.*463A>C (n.*463A>C) n.3316A>C c.*1220A>C (n.*1220A>C) n.3441A>C c.2046A>C (p.Lys682Asn) c.*2510A>C (n.*2510A>C) n.2248A>C c.*2588A>C (n.*2588A>C) c.2895A>C (p.Lys965Asn) n.125A>C n.447A>C c.2853A>C (p.Lys951Asn) c.3117A>C (p.Lys1039Asn) c.3039A>C (p.Lys1013Asn) c.3006A>C (p.Lys1002Asn) c.3015A>C (p.Lys1005Asn) c.2025A>C (p.Lys675Asn) | |
1 | g.154588158dup | CA2480932514 | ADAR | c.2882dup (n.2882dup) c.3018dup (p.Gln1007ThrfsTer21) c.2871dup (p.Gln958ThrfsTer21) c.2640dup (p.Gln881ThrfsTer21) c.2103dup (p.Gln702ThrfsTer21) c.2988dup (p.Gln997ThrfsTer21) c.2910dup (p.Gln971ThrfsTer21) n.2973dup c.*463dup (n.*463dup) n.3316dup c.2988dup (p.Gln997ThrfsTer25) c.*1220dup (n.*1220dup) n.3441dup c.2046dup (p.Gln683ThrfsTer21) c.2988dup (p.Gln997ThrfsTer?) c.*2510dup (n.*2510dup) n.2248dup c.*2588dup (n.*2588dup) c.2895dup (p.Gln966ThrfsTer21) n.125dup n.447dup c.2853dup (p.Gln952ThrfsTer21) c.3117dup (p.Gln1040ThrfsTer21) c.3039dup (p.Gln1014ThrfsTer21) c.3006dup (p.Gln1003ThrfsTer21) c.3015dup (p.Gln1006ThrfsTer21) c.2025dup (p.Gln676ThrfsTer21) | dbSNP |
1 | g.154588157T>A | CA342635988 | ADAR | c.2881A>T (n.2881A>T) c.3017A>T (p.Lys1006Ile) c.2870A>T (p.Lys957Ile) c.2639A>T (p.Lys880Ile) c.2102A>T (p.Lys701Ile) c.2987A>T (p.Lys996Ile) c.2909A>T (p.Lys970Ile) n.2972A>T c.*462A>T (n.*462A>T) n.3315A>T c.*1219A>T (n.*1219A>T) n.3440A>T c.2045A>T (p.Lys682Ile) c.*2509A>T (n.*2509A>T) n.2247A>T c.*2587A>T (n.*2587A>T) c.2894A>T (p.Lys965Ile) n.124A>T n.446A>T c.2852A>T (p.Lys951Ile) c.3116A>T (p.Lys1039Ile) c.3038A>T (p.Lys1013Ile) c.3005A>T (p.Lys1002Ile) c.3014A>T (p.Lys1005Ile) c.2024A>T (p.Lys675Ile) | |
1 | g.154588157T>C | CA342635989 | ADAR | c.2881A>G (n.2881A>G) c.3017A>G (p.Lys1006Arg) c.2870A>G (p.Lys957Arg) c.2639A>G (p.Lys880Arg) c.2102A>G (p.Lys701Arg) c.2987A>G (p.Lys996Arg) c.2909A>G (p.Lys970Arg) n.2972A>G c.*462A>G (n.*462A>G) n.3315A>G c.*1219A>G (n.*1219A>G) n.3440A>G c.2045A>G (p.Lys682Arg) c.*2509A>G (n.*2509A>G) n.2247A>G c.*2587A>G (n.*2587A>G) c.2894A>G (p.Lys965Arg) n.124A>G n.446A>G c.2852A>G (p.Lys951Arg) c.3116A>G (p.Lys1039Arg) c.3038A>G (p.Lys1013Arg) c.3005A>G (p.Lys1002Arg) c.3014A>G (p.Lys1005Arg) c.2024A>G (p.Lys675Arg) | |
1 | g.154588157T>G | CA342635990 | ADAR | c.2881A>C (n.2881A>C) c.3017A>C (p.Lys1006Thr) c.2870A>C (p.Lys957Thr) c.2639A>C (p.Lys880Thr) c.2102A>C (p.Lys701Thr) c.2987A>C (p.Lys996Thr) c.2909A>C (p.Lys970Thr) n.2972A>C c.*462A>C (n.*462A>C) n.3315A>C c.*1219A>C (n.*1219A>C) n.3440A>C c.2045A>C (p.Lys682Thr) c.*2509A>C (n.*2509A>C) n.2247A>C c.*2587A>C (n.*2587A>C) c.2894A>C (p.Lys965Thr) n.124A>C n.446A>C c.2852A>C (p.Lys951Thr) c.3116A>C (p.Lys1039Thr) c.3038A>C (p.Lys1013Thr) c.3005A>C (p.Lys1002Thr) c.3014A>C (p.Lys1005Thr) c.2024A>C (p.Lys675Thr) | |
1 | g.154588158T>A | CA342635991 | ADAR | c.2880A>T (n.2880A>T) c.3016A>T (p.Lys1006Ter) c.2869A>T (p.Lys957Ter) c.2638A>T (p.Lys880Ter) c.2101A>T (p.Lys701Ter) c.2986A>T (p.Lys996Ter) c.2908A>T (p.Lys970Ter) n.2971A>T c.*461A>T (n.*461A>T) n.3314A>T c.*1218A>T (n.*1218A>T) n.3439A>T c.2044A>T (p.Lys682Ter) c.*2508A>T (n.*2508A>T) n.2246A>T c.*2586A>T (n.*2586A>T) c.2893A>T (p.Lys965Ter) n.123A>T n.445A>T c.2851A>T (p.Lys951Ter) c.3115A>T (p.Lys1039Ter) c.3037A>T (p.Lys1013Ter) c.3004A>T (p.Lys1002Ter) c.3013A>T (p.Lys1005Ter) c.2023A>T (p.Lys675Ter) | |
1 | g.154588158T>C | CA342635992 | ADAR | c.2880A>G (n.2880A>G) c.3016A>G (p.Lys1006Glu) c.2869A>G (p.Lys957Glu) c.2638A>G (p.Lys880Glu) c.2101A>G (p.Lys701Glu) c.2986A>G (p.Lys996Glu) c.2908A>G (p.Lys970Glu) n.2971A>G c.*461A>G (n.*461A>G) n.3314A>G c.*1218A>G (n.*1218A>G) n.3439A>G c.2044A>G (p.Lys682Glu) c.*2508A>G (n.*2508A>G) n.2246A>G c.*2586A>G (n.*2586A>G) c.2893A>G (p.Lys965Glu) n.123A>G n.445A>G c.2851A>G (p.Lys951Glu) c.3115A>G (p.Lys1039Glu) c.3037A>G (p.Lys1013Glu) c.3004A>G (p.Lys1002Glu) c.3013A>G (p.Lys1005Glu) c.2023A>G (p.Lys675Glu) | gnomAD v4 |
1 | g.154588158T>G | CA342635993 | ADAR | c.2880A>C (n.2880A>C) c.3016A>C (p.Lys1006Gln) c.2869A>C (p.Lys957Gln) c.2638A>C (p.Lys880Gln) c.2101A>C (p.Lys701Gln) c.2986A>C (p.Lys996Gln) c.2908A>C (p.Lys970Gln) n.2971A>C c.*461A>C (n.*461A>C) n.3314A>C c.*1218A>C (n.*1218A>C) n.3439A>C c.2044A>C (p.Lys682Gln) c.*2508A>C (n.*2508A>C) n.2246A>C c.*2586A>C (n.*2586A>C) c.2893A>C (p.Lys965Gln) n.123A>C n.445A>C c.2851A>C (p.Lys951Gln) c.3115A>C (p.Lys1039Gln) c.3037A>C (p.Lys1013Gln) c.3004A>C (p.Lys1002Gln) c.3013A>C (p.Lys1005Gln) c.2023A>C (p.Lys675Gln) | |
1 | g.154588159G>A | CA420975094 | ADAR | c.2879C>T (n.2879C>T) c.3015C>T (p.Pro1005=) c.2868C>T (p.Pro956=) c.2637C>T (p.Pro879=) c.2100C>T (p.Pro700=) c.2985C>T (p.Pro995=) c.2907C>T (p.Pro969=) n.2970C>T c.*460C>T (n.*460C>T) n.3313C>T c.*1217C>T (n.*1217C>T) n.3438C>T c.2043C>T (p.Pro681=) c.*2507C>T (n.*2507C>T) n.2245C>T c.*2585C>T (n.*2585C>T) c.2892C>T (p.Pro964=) n.122C>T n.444C>T c.2850C>T (p.Pro950=) c.3114C>T (p.Pro1038=) c.3036C>T (p.Pro1012=) c.3003C>T (p.Pro1001=) c.3012C>T (p.Pro1004=) c.2022C>T (p.Pro674=) | |
1 | g.154588159G>C | CA420975095 | ADAR | c.2879C>G (n.2879C>G) c.3015C>G (p.Pro1005=) c.2868C>G (p.Pro956=) c.2637C>G (p.Pro879=) c.2100C>G (p.Pro700=) c.2985C>G (p.Pro995=) c.2907C>G (p.Pro969=) n.2970C>G c.*460C>G (n.*460C>G) n.3313C>G c.*1217C>G (n.*1217C>G) n.3438C>G c.2043C>G (p.Pro681=) c.*2507C>G (n.*2507C>G) n.2245C>G c.*2585C>G (n.*2585C>G) c.2892C>G (p.Pro964=) n.122C>G n.444C>G c.2850C>G (p.Pro950=) c.3114C>G (p.Pro1038=) c.3036C>G (p.Pro1012=) c.3003C>G (p.Pro1001=) c.3012C>G (p.Pro1004=) c.2022C>G (p.Pro674=) | |
1 | g.154588159G>T | CA420975096 | ADAR | c.2879C>A (n.2879C>A) c.3015C>A (p.Pro1005=) c.2868C>A (p.Pro956=) c.2637C>A (p.Pro879=) c.2100C>A (p.Pro700=) c.2985C>A (p.Pro995=) c.2907C>A (p.Pro969=) n.2970C>A c.*460C>A (n.*460C>A) n.3313C>A c.*1217C>A (n.*1217C>A) n.3438C>A c.2043C>A (p.Pro681=) c.*2507C>A (n.*2507C>A) n.2245C>A c.*2585C>A (n.*2585C>A) c.2892C>A (p.Pro964=) n.122C>A n.444C>A c.2850C>A (p.Pro950=) c.3114C>A (p.Pro1038=) c.3036C>A (p.Pro1012=) c.3003C>A (p.Pro1001=) c.3012C>A (p.Pro1004=) c.2022C>A (p.Pro674=) | |
1 | g.154588160G>A | CA342635994 | ADAR | c.2878C>T (n.2878C>T) c.3014C>T (p.Pro1005Leu) c.2867C>T (p.Pro956Leu) c.2636C>T (p.Pro879Leu) c.2099C>T (p.Pro700Leu) c.2984C>T (p.Pro995Leu) c.2906C>T (p.Pro969Leu) n.2969C>T c.*459C>T (n.*459C>T) n.3312C>T c.*1216C>T (n.*1216C>T) n.3437C>T c.2042C>T (p.Pro681Leu) c.*2506C>T (n.*2506C>T) n.2244C>T c.*2584C>T (n.*2584C>T) c.2891C>T (p.Pro964Leu) n.121C>T n.443C>T c.2849C>T (p.Pro950Leu) c.3113C>T (p.Pro1038Leu) c.3035C>T (p.Pro1012Leu) c.3002C>T (p.Pro1001Leu) c.3011C>T (p.Pro1004Leu) c.2021C>T (p.Pro674Leu) | |
1 | g.154588160G>C | CA342635995 | ADAR | c.2878C>G (n.2878C>G) c.3014C>G (p.Pro1005Arg) c.2867C>G (p.Pro956Arg) c.2636C>G (p.Pro879Arg) c.2099C>G (p.Pro700Arg) c.2984C>G (p.Pro995Arg) c.2906C>G (p.Pro969Arg) n.2969C>G c.*459C>G (n.*459C>G) n.3312C>G c.*1216C>G (n.*1216C>G) n.3437C>G c.2042C>G (p.Pro681Arg) c.*2506C>G (n.*2506C>G) n.2244C>G c.*2584C>G (n.*2584C>G) c.2891C>G (p.Pro964Arg) n.121C>G n.443C>G c.2849C>G (p.Pro950Arg) c.3113C>G (p.Pro1038Arg) c.3035C>G (p.Pro1012Arg) c.3002C>G (p.Pro1001Arg) c.3011C>G (p.Pro1004Arg) c.2021C>G (p.Pro674Arg) | |
1 | g.154588160G>T | CA342635996 | ADAR | c.2878C>A (n.2878C>A) c.3014C>A (p.Pro1005His) c.2867C>A (p.Pro956His) c.2636C>A (p.Pro879His) c.2099C>A (p.Pro700His) c.2984C>A (p.Pro995His) c.2906C>A (p.Pro969His) n.2969C>A c.*459C>A (n.*459C>A) n.3312C>A c.*1216C>A (n.*1216C>A) n.3437C>A c.2042C>A (p.Pro681His) c.*2506C>A (n.*2506C>A) n.2244C>A c.*2584C>A (n.*2584C>A) c.2891C>A (p.Pro964His) n.121C>A n.443C>A c.2849C>A (p.Pro950His) c.3113C>A (p.Pro1038His) c.3035C>A (p.Pro1012His) c.3002C>A (p.Pro1001His) c.3011C>A (p.Pro1004His) c.2021C>A (p.Pro674His) | |
1 | g.154588161G>A | CA342635997 | ADAR | c.2877C>T (n.2877C>T) c.3013C>T (p.Pro1005Ser) c.2866C>T (p.Pro956Ser) c.2635C>T (p.Pro879Ser) c.2098C>T (p.Pro700Ser) c.2983C>T (p.Pro995Ser) c.2905C>T (p.Pro969Ser) n.2968C>T c.*458C>T (n.*458C>T) n.3311C>T c.*1215C>T (n.*1215C>T) n.3436C>T c.2041C>T (p.Pro681Ser) c.*2505C>T (n.*2505C>T) n.2243C>T c.*2583C>T (n.*2583C>T) c.2890C>T (p.Pro964Ser) n.120C>T n.442C>T c.2848C>T (p.Pro950Ser) c.3112C>T (p.Pro1038Ser) c.3034C>T (p.Pro1012Ser) c.3001C>T (p.Pro1001Ser) c.3010C>T (p.Pro1004Ser) c.2020C>T (p.Pro674Ser) | |
1 | g.154588161G>C | CA1131089 | ADAR | c.2877C>G (n.2877C>G) c.3013C>G (p.Pro1005Ala) c.2866C>G (p.Pro956Ala) c.2635C>G (p.Pro879Ala) c.2098C>G (p.Pro700Ala) c.2983C>G (p.Pro995Ala) c.2905C>G (p.Pro969Ala) n.2968C>G c.*458C>G (n.*458C>G) n.3311C>G c.*1215C>G (n.*1215C>G) n.3436C>G c.2041C>G (p.Pro681Ala) c.*2505C>G (n.*2505C>G) n.2243C>G c.*2583C>G (n.*2583C>G) c.2890C>G (p.Pro964Ala) n.120C>G n.442C>G c.2848C>G (p.Pro950Ala) c.3112C>G (p.Pro1038Ala) c.3034C>G (p.Pro1012Ala) c.3001C>G (p.Pro1001Ala) c.3010C>G (p.Pro1004Ala) c.2020C>G (p.Pro674Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154588161G= | CA1141830406 | ADAR | c.2877C= (n.2877C=) c.3013C= (p.Pro1005=) c.2866C= (p.Pro956=) c.2635C= (p.Pro879=) c.2098C= (p.Pro700=) c.2983C= (p.Pro995=) c.2905C= (p.Pro969=) n.2968C= c.*458C= (n.*458C=) n.3311C= c.*1215C= (n.*1215C=) n.3436C= c.2041C= (p.Pro681=) c.*2505C= (n.*2505C=) n.2243C= c.*2583C= (n.*2583C=) c.2890C= (p.Pro964=) n.120C= n.442C= c.2848C= (p.Pro950=) c.3112C= (p.Pro1038=) c.3034C= (p.Pro1012=) c.3001C= (p.Pro1001=) c.3010C= (p.Pro1004=) c.2020C= (p.Pro674=) | |
1 | g.154588161G>T | CA342635998 | ADAR | c.2877C>A (n.2877C>A) c.3013C>A (p.Pro1005Thr) c.2866C>A (p.Pro956Thr) c.2635C>A (p.Pro879Thr) c.2098C>A (p.Pro700Thr) c.2983C>A (p.Pro995Thr) c.2905C>A (p.Pro969Thr) n.2968C>A c.*458C>A (n.*458C>A) n.3311C>A c.*1215C>A (n.*1215C>A) n.3436C>A c.2041C>A (p.Pro681Thr) c.*2505C>A (n.*2505C>A) n.2243C>A c.*2583C>A (n.*2583C>A) c.2890C>A (p.Pro964Thr) n.120C>A n.442C>A c.2848C>A (p.Pro950Thr) c.3112C>A (p.Pro1038Thr) c.3034C>A (p.Pro1012Thr) c.3001C>A (p.Pro1001Thr) c.3010C>A (p.Pro1004Thr) c.2020C>A (p.Pro674Thr) | |
1 | g.154588162A>C | CA342635999 | ADAR | c.2876T>G (n.2876T>G) c.3012T>G (p.Asn1004Lys) c.2865T>G (p.Asn955Lys) c.2634T>G (p.Asn878Lys) c.2097T>G (p.Asn699Lys) c.2982T>G (p.Asn994Lys) c.2904T>G (p.Asn968Lys) n.2967T>G c.*457T>G (n.*457T>G) n.3310T>G c.*1214T>G (n.*1214T>G) n.3435T>G c.2040T>G (p.Asn680Lys) c.*2504T>G (n.*2504T>G) n.2242T>G c.*2582T>G (n.*2582T>G) c.2889T>G (p.Asn963Lys) n.119T>G n.441T>G c.2847T>G (p.Asn949Lys) c.3111T>G (p.Asn1037Lys) c.3033T>G (p.Asn1011Lys) c.3000T>G (p.Asn1000Lys) c.3009T>G (p.Asn1003Lys) c.2019T>G (p.Asn673Lys) | |
1 | g.154588162A>G | CA421231938 | ADAR | c.2876T>C (n.2876T>C) c.3012T>C (p.Asn1004=) c.2865T>C (p.Asn955=) c.2634T>C (p.Asn878=) c.2097T>C (p.Asn699=) c.2982T>C (p.Asn994=) c.2904T>C (p.Asn968=) n.2967T>C c.*457T>C (n.*457T>C) n.3310T>C c.*1214T>C (n.*1214T>C) n.3435T>C c.2040T>C (p.Asn680=) c.*2504T>C (n.*2504T>C) n.2242T>C c.*2582T>C (n.*2582T>C) c.2889T>C (p.Asn963=) n.119T>C n.441T>C c.2847T>C (p.Asn949=) c.3111T>C (p.Asn1037=) c.3033T>C (p.Asn1011=) c.3000T>C (p.Asn1000=) c.3009T>C (p.Asn1003=) c.2019T>C (p.Asn673=) | |
1 | g.154588162A>T | CA342636000 | ADAR | c.2876T>A (n.2876T>A) c.3012T>A (p.Asn1004Lys) c.2865T>A (p.Asn955Lys) c.2634T>A (p.Asn878Lys) c.2097T>A (p.Asn699Lys) c.2982T>A (p.Asn994Lys) c.2904T>A (p.Asn968Lys) n.2967T>A c.*457T>A (n.*457T>A) n.3310T>A c.*1214T>A (n.*1214T>A) n.3435T>A c.2040T>A (p.Asn680Lys) c.*2504T>A (n.*2504T>A) n.2242T>A c.*2582T>A (n.*2582T>A) c.2889T>A (p.Asn963Lys) n.119T>A n.441T>A c.2847T>A (p.Asn949Lys) c.3111T>A (p.Asn1037Lys) c.3033T>A (p.Asn1011Lys) c.3000T>A (p.Asn1000Lys) c.3009T>A (p.Asn1003Lys) c.2019T>A (p.Asn673Lys) | |
1 | g.154588163T>A | CA342636001 | ADAR | c.2875A>T (n.2875A>T) c.3011A>T (p.Asn1004Ile) c.2864A>T (p.Asn955Ile) c.2633A>T (p.Asn878Ile) c.2096A>T (p.Asn699Ile) c.2981A>T (p.Asn994Ile) c.2903A>T (p.Asn968Ile) n.2966A>T c.*456A>T (n.*456A>T) n.3309A>T c.*1213A>T (n.*1213A>T) n.3434A>T c.2039A>T (p.Asn680Ile) c.*2503A>T (n.*2503A>T) n.2241A>T c.*2581A>T (n.*2581A>T) c.2888A>T (p.Asn963Ile) n.118A>T n.440A>T c.2846A>T (p.Asn949Ile) c.3110A>T (p.Asn1037Ile) c.3032A>T (p.Asn1011Ile) c.2999A>T (p.Asn1000Ile) c.3008A>T (p.Asn1003Ile) c.2018A>T (p.Asn673Ile) | |
1 | g.154588163T>C | CA342636002 | ADAR | c.2875A>G (n.2875A>G) c.3011A>G (p.Asn1004Ser) c.2864A>G (p.Asn955Ser) c.2633A>G (p.Asn878Ser) c.2096A>G (p.Asn699Ser) c.2981A>G (p.Asn994Ser) c.2903A>G (p.Asn968Ser) n.2966A>G c.*456A>G (n.*456A>G) n.3309A>G c.*1213A>G (n.*1213A>G) n.3434A>G c.2039A>G (p.Asn680Ser) c.*2503A>G (n.*2503A>G) n.2241A>G c.*2581A>G (n.*2581A>G) c.2888A>G (p.Asn963Ser) n.118A>G n.440A>G c.2846A>G (p.Asn949Ser) c.3110A>G (p.Asn1037Ser) c.3032A>G (p.Asn1011Ser) c.2999A>G (p.Asn1000Ser) c.3008A>G (p.Asn1003Ser) c.2018A>G (p.Asn673Ser) | |
1 | g.154588163T>G | CA342636003 | ADAR | c.2875A>C (n.2875A>C) c.3011A>C (p.Asn1004Thr) c.2864A>C (p.Asn955Thr) c.2633A>C (p.Asn878Thr) c.2096A>C (p.Asn699Thr) c.2981A>C (p.Asn994Thr) c.2903A>C (p.Asn968Thr) n.2966A>C c.*456A>C (n.*456A>C) n.3309A>C c.*1213A>C (n.*1213A>C) n.3434A>C c.2039A>C (p.Asn680Thr) c.*2503A>C (n.*2503A>C) n.2241A>C c.*2581A>C (n.*2581A>C) c.2888A>C (p.Asn963Thr) n.118A>C n.440A>C c.2846A>C (p.Asn949Thr) c.3110A>C (p.Asn1037Thr) c.3032A>C (p.Asn1011Thr) c.2999A>C (p.Asn1000Thr) c.3008A>C (p.Asn1003Thr) c.2018A>C (p.Asn673Thr) | |
1 | g.154588164T>A | CA342636004 | ADAR | c.2874A>T (n.2874A>T) c.3010A>T (p.Asn1004Tyr) c.2863A>T (p.Asn955Tyr) c.2632A>T (p.Asn878Tyr) c.2095A>T (p.Asn699Tyr) c.2980A>T (p.Asn994Tyr) c.2902A>T (p.Asn968Tyr) n.2965A>T c.*455A>T (n.*455A>T) n.3308A>T c.*1212A>T (n.*1212A>T) n.3433A>T c.2038A>T (p.Asn680Tyr) c.*2502A>T (n.*2502A>T) n.2240A>T c.*2580A>T (n.*2580A>T) c.2887A>T (p.Asn963Tyr) n.117A>T n.439A>T c.2845A>T (p.Asn949Tyr) c.3109A>T (p.Asn1037Tyr) c.3031A>T (p.Asn1011Tyr) c.2998A>T (p.Asn1000Tyr) c.3007A>T (p.Asn1003Tyr) c.2017A>T (p.Asn673Tyr) | |
1 | g.154588164T>C | CA342636005 | ADAR | c.2874A>G (n.2874A>G) c.3010A>G (p.Asn1004Asp) c.2863A>G (p.Asn955Asp) c.2632A>G (p.Asn878Asp) c.2095A>G (p.Asn699Asp) c.2980A>G (p.Asn994Asp) c.2902A>G (p.Asn968Asp) n.2965A>G c.*455A>G (n.*455A>G) n.3308A>G c.*1212A>G (n.*1212A>G) n.3433A>G c.2038A>G (p.Asn680Asp) c.*2502A>G (n.*2502A>G) n.2240A>G c.*2580A>G (n.*2580A>G) c.2887A>G (p.Asn963Asp) n.117A>G n.439A>G c.2845A>G (p.Asn949Asp) c.3109A>G (p.Asn1037Asp) c.3031A>G (p.Asn1011Asp) c.2998A>G (p.Asn1000Asp) c.3007A>G (p.Asn1003Asp) c.2017A>G (p.Asn673Asp) | |
1 | g.154588164T>G | CA342636006 | ADAR | c.2874A>C (n.2874A>C) c.3010A>C (p.Asn1004His) c.2863A>C (p.Asn955His) c.2632A>C (p.Asn878His) c.2095A>C (p.Asn699His) c.2980A>C (p.Asn994His) c.2902A>C (p.Asn968His) n.2965A>C c.*455A>C (n.*455A>C) n.3308A>C c.*1212A>C (n.*1212A>C) n.3433A>C c.2038A>C (p.Asn680His) c.*2502A>C (n.*2502A>C) n.2240A>C c.*2580A>C (n.*2580A>C) c.2887A>C (p.Asn963His) n.117A>C n.439A>C c.2845A>C (p.Asn949His) c.3109A>C (p.Asn1037His) c.3031A>C (p.Asn1011His) c.2998A>C (p.Asn1000His) c.3007A>C (p.Asn1003His) c.2017A>C (p.Asn673His) | |
1 | g.154588165C>A | CA342636007 | ADAR | c.2873G>T (n.2873G>T) c.3009G>T (p.Glu1003Asp) c.2862G>T (p.Glu954Asp) c.2631G>T (p.Glu877Asp) c.2094G>T (p.Glu698Asp) c.2979G>T (p.Glu993Asp) c.2901G>T (p.Glu967Asp) n.2964G>T c.*454G>T (n.*454G>T) n.3307G>T c.*1211G>T (n.*1211G>T) n.3432G>T c.2037G>T (p.Glu679Asp) c.*2501G>T (n.*2501G>T) n.2239G>T c.*2579G>T (n.*2579G>T) c.2886G>T (p.Glu962Asp) n.116G>T n.438G>T c.2844G>T (p.Glu948Asp) c.3108G>T (p.Glu1036Asp) c.3030G>T (p.Glu1010Asp) c.2997G>T (p.Glu999Asp) c.3006G>T (p.Glu1002Asp) c.2016G>T (p.Glu672Asp) | |
1 | g.154588165C= | CA1148246506 | ADAR | c.2873G= (n.2873G=) c.3009G= (p.Glu1003=) c.2862G= (p.Glu954=) c.2631G= (p.Glu877=) c.2094G= (p.Glu698=) c.2979G= (p.Glu993=) c.2901G= (p.Glu967=) n.2964G= c.*454G= (n.*454G=) n.3307G= c.*1211G= (n.*1211G=) n.3432G= c.2037G= (p.Glu679=) c.*2501G= (n.*2501G=) n.2239G= c.*2579G= (n.*2579G=) c.2886G= (p.Glu962=) n.116G= n.438G= c.2844G= (p.Glu948=) c.3108G= (p.Glu1036=) c.3030G= (p.Glu1010=) c.2997G= (p.Glu999=) c.3006G= (p.Glu1002=) c.2016G= (p.Glu672=) | |
1 | g.154588165C>G | CA342636008 | ADAR | c.2873G>C (n.2873G>C) c.3009G>C (p.Glu1003Asp) c.2862G>C (p.Glu954Asp) c.2631G>C (p.Glu877Asp) c.2094G>C (p.Glu698Asp) c.2979G>C (p.Glu993Asp) c.2901G>C (p.Glu967Asp) n.2964G>C c.*454G>C (n.*454G>C) n.3307G>C c.*1211G>C (n.*1211G>C) n.3432G>C c.2037G>C (p.Glu679Asp) c.*2501G>C (n.*2501G>C) n.2239G>C c.*2579G>C (n.*2579G>C) c.2886G>C (p.Glu962Asp) n.116G>C n.438G>C c.2844G>C (p.Glu948Asp) c.3108G>C (p.Glu1036Asp) c.3030G>C (p.Glu1010Asp) c.2997G>C (p.Glu999Asp) c.3006G>C (p.Glu1002Asp) c.2016G>C (p.Glu672Asp) | |
1 | g.154588165C>T | CA1131090 | ADAR | c.2873G>A (n.2873G>A) c.3009G>A (p.Glu1003=) c.2862G>A (p.Glu954=) c.2631G>A (p.Glu877=) c.2094G>A (p.Glu698=) c.2979G>A (p.Glu993=) c.2901G>A (p.Glu967=) n.2964G>A c.*454G>A (n.*454G>A) n.3307G>A c.*1211G>A (n.*1211G>A) n.3432G>A c.2037G>A (p.Glu679=) c.*2501G>A (n.*2501G>A) n.2239G>A c.*2579G>A (n.*2579G>A) c.2886G>A (p.Glu962=) n.116G>A n.438G>A c.2844G>A (p.Glu948=) c.3108G>A (p.Glu1036=) c.3030G>A (p.Glu1010=) c.2997G>A (p.Glu999=) c.3006G>A (p.Glu1002=) c.2016G>A (p.Glu672=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.154588166T>A | CA342636009 | ADAR | c.2872A>T (n.2872A>T) c.3008A>T (p.Glu1003Val) c.2861A>T (p.Glu954Val) c.2630A>T (p.Glu877Val) c.2093A>T (p.Glu698Val) c.2978A>T (p.Glu993Val) c.2900A>T (p.Glu967Val) n.2963A>T c.*453A>T (n.*453A>T) n.3306A>T c.*1210A>T (n.*1210A>T) n.3431A>T c.2036A>T (p.Glu679Val) c.*2500A>T (n.*2500A>T) n.2238A>T c.*2578A>T (n.*2578A>T) c.2885A>T (p.Glu962Val) n.115A>T n.437A>T c.2843A>T (p.Glu948Val) c.3107A>T (p.Glu1036Val) c.3029A>T (p.Glu1010Val) c.2996A>T (p.Glu999Val) c.3005A>T (p.Glu1002Val) c.2015A>T (p.Glu672Val) | |
1 | g.154588166T>C | CA342636010 | ADAR | c.2872A>G (n.2872A>G) c.3008A>G (p.Glu1003Gly) c.2861A>G (p.Glu954Gly) c.2630A>G (p.Glu877Gly) c.2093A>G (p.Glu698Gly) c.2978A>G (p.Glu993Gly) c.2900A>G (p.Glu967Gly) n.2963A>G c.*453A>G (n.*453A>G) n.3306A>G c.*1210A>G (n.*1210A>G) n.3431A>G c.2036A>G (p.Glu679Gly) c.*2500A>G (n.*2500A>G) n.2238A>G c.*2578A>G (n.*2578A>G) c.2885A>G (p.Glu962Gly) n.115A>G n.437A>G c.2843A>G (p.Glu948Gly) c.3107A>G (p.Glu1036Gly) c.3029A>G (p.Glu1010Gly) c.2996A>G (p.Glu999Gly) c.3005A>G (p.Glu1002Gly) c.2015A>G (p.Glu672Gly) | |
1 | g.154588166T>G | CA342636011 | ADAR | c.2872A>C (n.2872A>C) c.3008A>C (p.Glu1003Ala) c.2861A>C (p.Glu954Ala) c.2630A>C (p.Glu877Ala) c.2093A>C (p.Glu698Ala) c.2978A>C (p.Glu993Ala) c.2900A>C (p.Glu967Ala) n.2963A>C c.*453A>C (n.*453A>C) n.3306A>C c.*1210A>C (n.*1210A>C) n.3431A>C c.2036A>C (p.Glu679Ala) c.*2500A>C (n.*2500A>C) n.2238A>C c.*2578A>C (n.*2578A>C) c.2885A>C (p.Glu962Ala) n.115A>C n.437A>C c.2843A>C (p.Glu948Ala) c.3107A>C (p.Glu1036Ala) c.3029A>C (p.Glu1010Ala) c.2996A>C (p.Glu999Ala) c.3005A>C (p.Glu1002Ala) c.2015A>C (p.Glu672Ala) | dbSNP |
1 | g.154588166T= | CA2480932515 | ADAR | c.2872A= (n.2872A=) c.3008A= (p.Glu1003=) c.2861A= (p.Glu954=) c.2630A= (p.Glu877=) c.2093A= (p.Glu698=) c.2978A= (p.Glu993=) c.2900A= (p.Glu967=) n.2963A= c.*453A= (n.*453A=) n.3306A= c.*1210A= (n.*1210A=) n.3431A= c.2036A= (p.Glu679=) c.*2500A= (n.*2500A=) n.2238A= c.*2578A= (n.*2578A=) c.2885A= (p.Glu962=) n.115A= n.437A= c.2843A= (p.Glu948=) c.3107A= (p.Glu1036=) c.3029A= (p.Glu1010=) c.2996A= (p.Glu999=) c.3005A= (p.Glu1002=) c.2015A= (p.Glu672=) | |
1 | g.154588167C>A | CA342636014 | ADAR | c.2871G>T (n.2871G>T) c.3007G>T (p.Glu1003Ter) c.2860G>T (p.Glu954Ter) c.2629G>T (p.Glu877Ter) c.2092G>T (p.Glu698Ter) c.2977G>T (p.Glu993Ter) c.2899G>T (p.Glu967Ter) n.2962G>T c.*452G>T (n.*452G>T) n.3305G>T c.*1209G>T (n.*1209G>T) n.3430G>T c.2035G>T (p.Glu679Ter) c.*2499G>T (n.*2499G>T) n.2237G>T c.*2577G>T (n.*2577G>T) c.2884G>T (p.Glu962Ter) n.114G>T n.436G>T c.2842G>T (p.Glu948Ter) c.3106G>T (p.Glu1036Ter) c.3028G>T (p.Glu1010Ter) c.2995G>T (p.Glu999Ter) c.3004G>T (p.Glu1002Ter) c.2014G>T (p.Glu672Ter) | gnomAD v4 |
1 | g.154588167C= | CA2480932516 | ADAR | c.2871G= (n.2871G=) c.3007G= (p.Glu1003=) c.2860G= (p.Glu954=) c.2629G= (p.Glu877=) c.2092G= (p.Glu698=) c.2977G= (p.Glu993=) c.2899G= (p.Glu967=) n.2962G= c.*452G= (n.*452G=) n.3305G= c.*1209G= (n.*1209G=) n.3430G= c.2035G= (p.Glu679=) c.*2499G= (n.*2499G=) n.2237G= c.*2577G= (n.*2577G=) c.2884G= (p.Glu962=) n.114G= n.436G= c.2842G= (p.Glu948=) c.3106G= (p.Glu1036=) c.3028G= (p.Glu1010=) c.2995G= (p.Glu999=) c.3004G= (p.Glu1002=) c.2014G= (p.Glu672=) | |
1 | g.154588167C>G | CA342636013 | ADAR | c.2871G>C (n.2871G>C) c.3007G>C (p.Glu1003Gln) c.2860G>C (p.Glu954Gln) c.2629G>C (p.Glu877Gln) c.2092G>C (p.Glu698Gln) c.2977G>C (p.Glu993Gln) c.2899G>C (p.Glu967Gln) n.2962G>C c.*452G>C (n.*452G>C) n.3305G>C c.*1209G>C (n.*1209G>C) n.3430G>C c.2035G>C (p.Glu679Gln) c.*2499G>C (n.*2499G>C) n.2237G>C c.*2577G>C (n.*2577G>C) c.2884G>C (p.Glu962Gln) n.114G>C n.436G>C c.2842G>C (p.Glu948Gln) c.3106G>C (p.Glu1036Gln) c.3028G>C (p.Glu1010Gln) c.2995G>C (p.Glu999Gln) c.3004G>C (p.Glu1002Gln) c.2014G>C (p.Glu672Gln) | |
1 | g.154588167C>T | CA342636012 | ADAR | c.2871G>A (n.2871G>A) c.3007G>A (p.Glu1003Lys) c.2860G>A (p.Glu954Lys) c.2629G>A (p.Glu877Lys) c.2092G>A (p.Glu698Lys) c.2977G>A (p.Glu993Lys) c.2899G>A (p.Glu967Lys) n.2962G>A c.*452G>A (n.*452G>A) n.3305G>A c.*1209G>A (n.*1209G>A) n.3430G>A c.2035G>A (p.Glu679Lys) c.*2499G>A (n.*2499G>A) n.2237G>A c.*2577G>A (n.*2577G>A) c.2884G>A (p.Glu962Lys) n.114G>A n.436G>A c.2842G>A (p.Glu948Lys) c.3106G>A (p.Glu1036Lys) c.3028G>A (p.Glu1010Lys) c.2995G>A (p.Glu999Lys) c.3004G>A (p.Glu1002Lys) c.2014G>A (p.Glu672Lys) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.154588168G>A | CA1131091 | ADAR | c.2870C>T (n.2870C>T) c.3006C>T (p.Phe1002=) c.2859C>T (p.Phe953=) c.2628C>T (p.Phe876=) c.2091C>T (p.Phe697=) c.2976C>T (p.Phe992=) c.2898C>T (p.Phe966=) n.2961C>T c.*451C>T (n.*451C>T) n.3304C>T c.*1208C>T (n.*1208C>T) n.3429C>T c.2034C>T (p.Phe678=) c.*2498C>T (n.*2498C>T) n.2236C>T c.*2576C>T (n.*2576C>T) c.2883C>T (p.Phe961=) n.113C>T n.435C>T c.2841C>T (p.Phe947=) c.3105C>T (p.Phe1035=) c.3027C>T (p.Phe1009=) c.2994C>T (p.Phe998=) c.3003C>T (p.Phe1001=) c.2013C>T (p.Phe671=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.154588168G>C | CA342636015 | ADAR | c.2870C>G (n.2870C>G) c.3006C>G (p.Phe1002Leu) c.2859C>G (p.Phe953Leu) c.2628C>G (p.Phe876Leu) c.2091C>G (p.Phe697Leu) c.2976C>G (p.Phe992Leu) c.2898C>G (p.Phe966Leu) n.2961C>G c.*451C>G (n.*451C>G) n.3304C>G c.*1208C>G (n.*1208C>G) n.3429C>G c.2034C>G (p.Phe678Leu) c.*2498C>G (n.*2498C>G) n.2236C>G c.*2576C>G (n.*2576C>G) c.2883C>G (p.Phe961Leu) n.113C>G n.435C>G c.2841C>G (p.Phe947Leu) c.3105C>G (p.Phe1035Leu) c.3027C>G (p.Phe1009Leu) c.2994C>G (p.Phe998Leu) c.3003C>G (p.Phe1001Leu) c.2013C>G (p.Phe671Leu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.154588168G= | CA1146192335 | ADAR | c.2870C= (n.2870C=) c.3006C= (p.Phe1002=) c.2859C= (p.Phe953=) c.2628C= (p.Phe876=) c.2091C= (p.Phe697=) c.2976C= (p.Phe992=) c.2898C= (p.Phe966=) n.2961C= c.*451C= (n.*451C=) n.3304C= c.*1208C= (n.*1208C=) n.3429C= c.2034C= (p.Phe678=) c.*2498C= (n.*2498C=) n.2236C= c.*2576C= (n.*2576C=) c.2883C= (p.Phe961=) n.113C= n.435C= c.2841C= (p.Phe947=) c.3105C= (p.Phe1035=) c.3027C= (p.Phe1009=) c.2994C= (p.Phe998=) c.3003C= (p.Phe1001=) c.2013C= (p.Phe671=) | |
1 | g.154588168G>T | CA342636016 | ADAR | c.2870C>A (n.2870C>A) c.3006C>A (p.Phe1002Leu) c.2859C>A (p.Phe953Leu) c.2628C>A (p.Phe876Leu) c.2091C>A (p.Phe697Leu) c.2976C>A (p.Phe992Leu) c.2898C>A (p.Phe966Leu) n.2961C>A c.*451C>A (n.*451C>A) n.3304C>A c.*1208C>A (n.*1208C>A) n.3429C>A c.2034C>A (p.Phe678Leu) c.*2498C>A (n.*2498C>A) n.2236C>A c.*2576C>A (n.*2576C>A) c.2883C>A (p.Phe961Leu) n.113C>A n.435C>A c.2841C>A (p.Phe947Leu) c.3105C>A (p.Phe1035Leu) c.3027C>A (p.Phe1009Leu) c.2994C>A (p.Phe998Leu) c.3003C>A (p.Phe1001Leu) c.2013C>A (p.Phe671Leu) | |
1 | g.154588169A>C | CA342636017 | ADAR | c.2869T>G (n.2869T>G) c.3005T>G (p.Phe1002Cys) c.2858T>G (p.Phe953Cys) c.2627T>G (p.Phe876Cys) c.2090T>G (p.Phe697Cys) c.2975T>G (p.Phe992Cys) c.2897T>G (p.Phe966Cys) n.2960T>G c.*450T>G (n.*450T>G) n.3303T>G c.*1207T>G (n.*1207T>G) n.3428T>G c.2033T>G (p.Phe678Cys) c.*2497T>G (n.*2497T>G) n.2235T>G c.*2575T>G (n.*2575T>G) c.2882T>G (p.Phe961Cys) n.112T>G n.434T>G c.2840T>G (p.Phe947Cys) c.3104T>G (p.Phe1035Cys) c.3026T>G (p.Phe1009Cys) c.2993T>G (p.Phe998Cys) c.3002T>G (p.Phe1001Cys) c.2012T>G (p.Phe671Cys) | gnomAD v4 |
1 | g.154588169A>G | CA342636018 | ADAR | c.2869T>C (n.2869T>C) c.3005T>C (p.Phe1002Ser) c.2858T>C (p.Phe953Ser) c.2627T>C (p.Phe876Ser) c.2090T>C (p.Phe697Ser) c.2975T>C (p.Phe992Ser) c.2897T>C (p.Phe966Ser) n.2960T>C c.*450T>C (n.*450T>C) n.3303T>C c.*1207T>C (n.*1207T>C) n.3428T>C c.2033T>C (p.Phe678Ser) c.*2497T>C (n.*2497T>C) n.2235T>C c.*2575T>C (n.*2575T>C) c.2882T>C (p.Phe961Ser) n.112T>C n.434T>C c.2840T>C (p.Phe947Ser) c.3104T>C (p.Phe1035Ser) c.3026T>C (p.Phe1009Ser) c.2993T>C (p.Phe998Ser) c.3002T>C (p.Phe1001Ser) c.2012T>C (p.Phe671Ser) | |
1 | g.154588169A>T | CA342636019 | ADAR | c.2869T>A (n.2869T>A) c.3005T>A (p.Phe1002Tyr) c.2858T>A (p.Phe953Tyr) c.2627T>A (p.Phe876Tyr) c.2090T>A (p.Phe697Tyr) c.2975T>A (p.Phe992Tyr) c.2897T>A (p.Phe966Tyr) n.2960T>A c.*450T>A (n.*450T>A) n.3303T>A c.*1207T>A (n.*1207T>A) n.3428T>A c.2033T>A (p.Phe678Tyr) c.*2497T>A (n.*2497T>A) n.2235T>A c.*2575T>A (n.*2575T>A) c.2882T>A (p.Phe961Tyr) n.112T>A n.434T>A c.2840T>A (p.Phe947Tyr) c.3104T>A (p.Phe1035Tyr) c.3026T>A (p.Phe1009Tyr) c.2993T>A (p.Phe998Tyr) c.3002T>A (p.Phe1001Tyr) c.2012T>A (p.Phe671Tyr) | |
1 | g.154588170A>C | CA342636020 | ADAR | c.2868T>G (n.2868T>G) c.3004T>G (p.Phe1002Val) c.2857T>G (p.Phe953Val) c.2626T>G (p.Phe876Val) c.2089T>G (p.Phe697Val) c.2974T>G (p.Phe992Val) c.2896T>G (p.Phe966Val) n.2959T>G c.*449T>G (n.*449T>G) n.3302T>G c.*1206T>G (n.*1206T>G) n.3427T>G c.2032T>G (p.Phe678Val) c.*2496T>G (n.*2496T>G) n.2234T>G c.*2574T>G (n.*2574T>G) c.2881T>G (p.Phe961Val) n.111T>G n.433T>G c.2839T>G (p.Phe947Val) c.3103T>G (p.Phe1035Val) c.3025T>G (p.Phe1009Val) c.2992T>G (p.Phe998Val) c.3001T>G (p.Phe1001Val) c.2011T>G (p.Phe671Val) | |
1 | g.154588170A>G | CA342636021 | ADAR | c.2868T>C (n.2868T>C) c.3004T>C (p.Phe1002Leu) c.2857T>C (p.Phe953Leu) c.2626T>C (p.Phe876Leu) c.2089T>C (p.Phe697Leu) c.2974T>C (p.Phe992Leu) c.2896T>C (p.Phe966Leu) n.2959T>C c.*449T>C (n.*449T>C) n.3302T>C c.*1206T>C (n.*1206T>C) n.3427T>C c.2032T>C (p.Phe678Leu) c.*2496T>C (n.*2496T>C) n.2234T>C c.*2574T>C (n.*2574T>C) c.2881T>C (p.Phe961Leu) n.111T>C n.433T>C c.2839T>C (p.Phe947Leu) c.3103T>C (p.Phe1035Leu) c.3025T>C (p.Phe1009Leu) c.2992T>C (p.Phe998Leu) c.3001T>C (p.Phe1001Leu) c.2011T>C (p.Phe671Leu) | |
1 | g.154588170A>T | CA342636022 | ADAR | c.2868T>A (n.2868T>A) c.3004T>A (p.Phe1002Ile) c.2857T>A (p.Phe953Ile) c.2626T>A (p.Phe876Ile) c.2089T>A (p.Phe697Ile) c.2974T>A (p.Phe992Ile) c.2896T>A (p.Phe966Ile) n.2959T>A c.*449T>A (n.*449T>A) n.3302T>A c.*1206T>A (n.*1206T>A) n.3427T>A c.2032T>A (p.Phe678Ile) c.*2496T>A (n.*2496T>A) n.2234T>A c.*2574T>A (n.*2574T>A) c.2881T>A (p.Phe961Ile) n.111T>A n.433T>A c.2839T>A (p.Phe947Ile) c.3103T>A (p.Phe1035Ile) c.3025T>A (p.Phe1009Ile) c.2992T>A (p.Phe998Ile) c.3001T>A (p.Phe1001Ile) c.2011T>A (p.Phe671Ile) | |
1 | g.154588171G>A | CA421231939 | ADAR | c.2867C>T (n.2867C>T) c.3003C>T (p.Val1001=) c.2856C>T (p.Val952=) c.2625C>T (p.Val875=) c.2088C>T (p.Val696=) c.2973C>T (p.Val991=) c.2895C>T (p.Val965=) n.2958C>T c.*448C>T (n.*448C>T) n.3301C>T c.*1205C>T (n.*1205C>T) n.3426C>T c.2031C>T (p.Val677=) c.*2495C>T (n.*2495C>T) n.2233C>T c.*2573C>T (n.*2573C>T) c.2880C>T (p.Val960=) n.110C>T n.432C>T c.2838C>T (p.Val946=) c.3102C>T (p.Val1034=) c.3024C>T (p.Val1008=) c.2991C>T (p.Val997=) c.3000C>T (p.Val1000=) c.2010C>T (p.Val670=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.154588171G>C | CA421231940 | ADAR | c.2867C>G (n.2867C>G) c.3003C>G (p.Val1001=) c.2856C>G (p.Val952=) c.2625C>G (p.Val875=) c.2088C>G (p.Val696=) c.2973C>G (p.Val991=) c.2895C>G (p.Val965=) n.2958C>G c.*448C>G (n.*448C>G) n.3301C>G c.*1205C>G (n.*1205C>G) n.3426C>G c.2031C>G (p.Val677=) c.*2495C>G (n.*2495C>G) n.2233C>G c.*2573C>G (n.*2573C>G) c.2880C>G (p.Val960=) n.110C>G n.432C>G c.2838C>G (p.Val946=) c.3102C>G (p.Val1034=) c.3024C>G (p.Val1008=) c.2991C>G (p.Val997=) c.3000C>G (p.Val1000=) c.2010C>G (p.Val670=) | |
1 | g.154588171G= | CA2480932517 | ADAR | c.2867C= (n.2867C=) c.3003C= (p.Val1001=) c.2856C= (p.Val952=) c.2625C= (p.Val875=) c.2088C= (p.Val696=) c.2973C= (p.Val991=) c.2895C= (p.Val965=) n.2958C= c.*448C= (n.*448C=) n.3301C= c.*1205C= (n.*1205C=) n.3426C= c.2031C= (p.Val677=) c.*2495C= (n.*2495C=) n.2233C= c.*2573C= (n.*2573C=) c.2880C= (p.Val960=) n.110C= n.432C= c.2838C= (p.Val946=) c.3102C= (p.Val1034=) c.3024C= (p.Val1008=) c.2991C= (p.Val997=) c.3000C= (p.Val1000=) c.2010C= (p.Val670=) | |
1 | g.154588171G>T | CA421231941 | ADAR | c.2867C>A (n.2867C>A) c.3003C>A (p.Val1001=) c.2856C>A (p.Val952=) c.2625C>A (p.Val875=) c.2088C>A (p.Val696=) c.2973C>A (p.Val991=) c.2895C>A (p.Val965=) n.2958C>A c.*448C>A (n.*448C>A) n.3301C>A c.*1205C>A (n.*1205C>A) n.3426C>A c.2031C>A (p.Val677=) c.*2495C>A (n.*2495C>A) n.2233C>A c.*2573C>A (n.*2573C>A) c.2880C>A (p.Val960=) n.110C>A n.432C>A c.2838C>A (p.Val946=) c.3102C>A (p.Val1034=) c.3024C>A (p.Val1008=) c.2991C>A (p.Val997=) c.3000C>A (p.Val1000=) c.2010C>A (p.Val670=) | |
1 | g.154588172A>C | CA342636023 | ADAR | c.2866T>G (n.2866T>G) c.3002T>G (p.Val1001Gly) c.2855T>G (p.Val952Gly) c.2624T>G (p.Val875Gly) c.2087T>G (p.Val696Gly) c.2972T>G (p.Val991Gly) c.2894T>G (p.Val965Gly) n.2957T>G c.*447T>G (n.*447T>G) n.3300T>G c.*1204T>G (n.*1204T>G) n.3425T>G c.2030T>G (p.Val677Gly) c.*2494T>G (n.*2494T>G) n.2232T>G c.*2572T>G (n.*2572T>G) c.2879T>G (p.Val960Gly) n.109T>G n.431T>G c.2837T>G (p.Val946Gly) c.3101T>G (p.Val1034Gly) c.3023T>G (p.Val1008Gly) c.2990T>G (p.Val997Gly) c.2999T>G (p.Val1000Gly) c.2009T>G (p.Val670Gly) | |
1 | g.154588172A>G | CA342636024 | ADAR | c.2866T>C (n.2866T>C) c.3002T>C (p.Val1001Ala) c.2855T>C (p.Val952Ala) c.2624T>C (p.Val875Ala) c.2087T>C (p.Val696Ala) c.2972T>C (p.Val991Ala) c.2894T>C (p.Val965Ala) n.2957T>C c.*447T>C (n.*447T>C) n.3300T>C c.*1204T>C (n.*1204T>C) n.3425T>C c.2030T>C (p.Val677Ala) c.*2494T>C (n.*2494T>C) n.2232T>C c.*2572T>C (n.*2572T>C) c.2879T>C (p.Val960Ala) n.109T>C n.431T>C c.2837T>C (p.Val946Ala) c.3101T>C (p.Val1034Ala) c.3023T>C (p.Val1008Ala) c.2990T>C (p.Val997Ala) c.2999T>C (p.Val1000Ala) c.2009T>C (p.Val670Ala) | gnomAD v4 |
1 | g.154588172A>T | CA342636025 | ADAR | c.2866T>A (n.2866T>A) c.3002T>A (p.Val1001Asp) c.2855T>A (p.Val952Asp) c.2624T>A (p.Val875Asp) c.2087T>A (p.Val696Asp) c.2972T>A (p.Val991Asp) c.2894T>A (p.Val965Asp) n.2957T>A c.*447T>A (n.*447T>A) n.3300T>A c.*1204T>A (n.*1204T>A) n.3425T>A c.2030T>A (p.Val677Asp) c.*2494T>A (n.*2494T>A) n.2232T>A c.*2572T>A (n.*2572T>A) c.2879T>A (p.Val960Asp) n.109T>A n.431T>A c.2837T>A (p.Val946Asp) c.3101T>A (p.Val1034Asp) c.3023T>A (p.Val1008Asp) c.2990T>A (p.Val997Asp) c.2999T>A (p.Val1000Asp) c.2009T>A (p.Val670Asp) | |
1 | g.154588173C>A | CA342636028 | ADAR | c.2865G>T (n.2865G>T) c.3001G>T (p.Val1001Phe) c.2854G>T (p.Val952Phe) c.2623G>T (p.Val875Phe) c.2086G>T (p.Val696Phe) c.2971G>T (p.Val991Phe) c.2893G>T (p.Val965Phe) n.2956G>T c.*446G>T (n.*446G>T) n.3299G>T c.*1203G>T (n.*1203G>T) n.3424G>T c.2029G>T (p.Val677Phe) c.*2493G>T (n.*2493G>T) n.2231G>T c.*2571G>T (n.*2571G>T) c.2878G>T (p.Val960Phe) n.108G>T n.430G>T c.2836G>T (p.Val946Phe) c.3100G>T (p.Val1034Phe) c.3022G>T (p.Val1008Phe) c.2989G>T (p.Val997Phe) c.2998G>T (p.Val1000Phe) c.2008G>T (p.Val670Phe) | |
1 | g.154588173C>G | CA342636027 | ADAR | c.2865G>C (n.2865G>C) c.3001G>C (p.Val1001Leu) c.2854G>C (p.Val952Leu) c.2623G>C (p.Val875Leu) c.2086G>C (p.Val696Leu) c.2971G>C (p.Val991Leu) c.2893G>C (p.Val965Leu) n.2956G>C c.*446G>C (n.*446G>C) n.3299G>C c.*1203G>C (n.*1203G>C) n.3424G>C c.2029G>C (p.Val677Leu) c.*2493G>C (n.*2493G>C) n.2231G>C c.*2571G>C (n.*2571G>C) c.2878G>C (p.Val960Leu) n.108G>C n.430G>C c.2836G>C (p.Val946Leu) c.3100G>C (p.Val1034Leu) c.3022G>C (p.Val1008Leu) c.2989G>C (p.Val997Leu) c.2998G>C (p.Val1000Leu) c.2008G>C (p.Val670Leu) | |
1 | g.154588173C>T | CA342636026 | ADAR | c.2865G>A (n.2865G>A) c.3001G>A (p.Val1001Ile) c.2854G>A (p.Val952Ile) c.2623G>A (p.Val875Ile) c.2086G>A (p.Val696Ile) c.2971G>A (p.Val991Ile) c.2893G>A (p.Val965Ile) n.2956G>A c.*446G>A (n.*446G>A) n.3299G>A c.*1203G>A (n.*1203G>A) n.3424G>A c.2029G>A (p.Val677Ile) c.*2493G>A (n.*2493G>A) n.2231G>A c.*2571G>A (n.*2571G>A) c.2878G>A (p.Val960Ile) n.108G>A n.430G>A c.2836G>A (p.Val946Ile) c.3100G>A (p.Val1034Ile) c.3022G>A (p.Val1008Ile) c.2989G>A (p.Val997Ile) c.2998G>A (p.Val1000Ile) c.2008G>A (p.Val670Ile) | |
1 | g.154588174A= | CA2480932518 | ADAR | c.2864T= (n.2864T=) c.3000T= (p.Pro1000=) c.2853T= (p.Pro951=) c.2622T= (p.Pro874=) c.2085T= (p.Pro695=) c.2970T= (p.Pro990=) c.2892T= (p.Pro964=) n.2955T= c.*445T= (n.*445T=) n.3298T= c.*1202T= (n.*1202T=) n.3423T= c.2028T= (p.Pro676=) c.*2492T= (n.*2492T=) n.2230T= c.*2570T= (n.*2570T=) c.2877T= (p.Pro959=) n.107T= n.429T= c.2835T= (p.Pro945=) c.3099T= (p.Pro1033=) c.3021T= (p.Pro1007=) c.2988T= (p.Pro996=) c.2997T= (p.Pro999=) c.2007T= (p.Pro669=) | |
1 | g.154588174A>C | CA421231943 | ADAR | c.2864T>G (n.2864T>G) c.3000T>G (p.Pro1000=) c.2853T>G (p.Pro951=) c.2622T>G (p.Pro874=) c.2085T>G (p.Pro695=) c.2970T>G (p.Pro990=) c.2892T>G (p.Pro964=) n.2955T>G c.*445T>G (n.*445T>G) n.3298T>G c.*1202T>G (n.*1202T>G) n.3423T>G c.2028T>G (p.Pro676=) c.*2492T>G (n.*2492T>G) n.2230T>G c.*2570T>G (n.*2570T>G) c.2877T>G (p.Pro959=) n.107T>G n.429T>G c.2835T>G (p.Pro945=) c.3099T>G (p.Pro1033=) c.3021T>G (p.Pro1007=) c.2988T>G (p.Pro996=) c.2997T>G (p.Pro999=) c.2007T>G (p.Pro669=) | |
1 | g.154588174A>G | CA30851400 | ADAR | c.2864T>C (n.2864T>C) c.3000T>C (p.Pro1000=) c.2853T>C (p.Pro951=) c.2622T>C (p.Pro874=) c.2085T>C (p.Pro695=) c.2970T>C (p.Pro990=) c.2892T>C (p.Pro964=) n.2955T>C c.*445T>C (n.*445T>C) n.3298T>C c.*1202T>C (n.*1202T>C) n.3423T>C c.2028T>C (p.Pro676=) c.*2492T>C (n.*2492T>C) n.2230T>C c.*2570T>C (n.*2570T>C) c.2877T>C (p.Pro959=) n.107T>C n.429T>C c.2835T>C (p.Pro945=) c.3099T>C (p.Pro1033=) c.3021T>C (p.Pro1007=) c.2988T>C (p.Pro996=) c.2997T>C (p.Pro999=) c.2007T>C (p.Pro669=) | dbSNP |
1 | g.154588174A>T | CA421231942 | ADAR | c.2864T>A (n.2864T>A) c.3000T>A (p.Pro1000=) c.2853T>A (p.Pro951=) c.2622T>A (p.Pro874=) c.2085T>A (p.Pro695=) c.2970T>A (p.Pro990=) c.2892T>A (p.Pro964=) n.2955T>A c.*445T>A (n.*445T>A) n.3298T>A c.*1202T>A (n.*1202T>A) n.3423T>A c.2028T>A (p.Pro676=) c.*2492T>A (n.*2492T>A) n.2230T>A c.*2570T>A (n.*2570T>A) c.2877T>A (p.Pro959=) n.107T>A n.429T>A c.2835T>A (p.Pro945=) c.3099T>A (p.Pro1033=) c.3021T>A (p.Pro1007=) c.2988T>A (p.Pro996=) c.2997T>A (p.Pro999=) c.2007T>A (p.Pro669=) | |
1 | g.154588174_154588175del | CA2573911878 | ADAR | c.2863_2864del (n.2863_2864del) c.2999_3000del (p.Pro1000ArgfsTer27) c.2852_2853del (p.Pro951ArgfsTer27) c.2621_2622del (p.Pro874ArgfsTer27) c.2084_2085del (p.Pro695ArgfsTer27) c.2969_2970del (p.Pro990ArgfsTer27) c.2891_2892del (p.Pro964ArgfsTer27) n.2954_2955del c.*444_*445del (n.*444_*445del) n.3297_3298del c.2969_2970del (p.Pro990ArgfsTer?) c.*1201_*1202del (n.*1201_*1202del) n.3422_3423del c.2027_2028del (p.Pro676ArgfsTer27) c.*2491_*2492del (n.*2491_*2492del) n.2229_2230del c.*2569_*2570del (n.*2569_*2570del) c.2876_2877del (p.Pro959ArgfsTer27) n.106_107del n.428_429del c.2834_2835del (p.Pro945ArgfsTer27) c.3098_3099del (p.Pro1033ArgfsTer27) c.3020_3021del (p.Pro1007ArgfsTer27) c.2987_2988del (p.Pro996ArgfsTer27) c.2996_2997del (p.Pro999ArgfsTer27) c.2006_2007del (p.Pro669ArgfsTer27) | |
1 | g.154588175G>A | CA342636029 | ADAR | c.2863C>T (n.2863C>T) c.2999C>T (p.Pro1000Leu) c.2852C>T (p.Pro951Leu) c.2621C>T (p.Pro874Leu) c.2084C>T (p.Pro695Leu) c.2969C>T (p.Pro990Leu) c.2891C>T (p.Pro964Leu) n.2954C>T c.*444C>T (n.*444C>T) n.3297C>T c.*1201C>T (n.*1201C>T) n.3422C>T c.2027C>T (p.Pro676Leu) c.*2491C>T (n.*2491C>T) n.2229C>T c.*2569C>T (n.*2569C>T) c.2876C>T (p.Pro959Leu) n.106C>T n.428C>T c.2834C>T (p.Pro945Leu) c.3098C>T (p.Pro1033Leu) c.3020C>T (p.Pro1007Leu) c.2987C>T (p.Pro996Leu) c.2996C>T (p.Pro999Leu) c.2006C>T (p.Pro669Leu) | |
1 | g.154588175G>C | CA342636031 | ADAR | c.2863C>G (n.2863C>G) c.2999C>G (p.Pro1000Arg) c.2852C>G (p.Pro951Arg) c.2621C>G (p.Pro874Arg) c.2084C>G (p.Pro695Arg) c.2969C>G (p.Pro990Arg) c.2891C>G (p.Pro964Arg) n.2954C>G c.*444C>G (n.*444C>G) n.3297C>G c.*1201C>G (n.*1201C>G) n.3422C>G c.2027C>G (p.Pro676Arg) c.*2491C>G (n.*2491C>G) n.2229C>G c.*2569C>G (n.*2569C>G) c.2876C>G (p.Pro959Arg) n.106C>G n.428C>G c.2834C>G (p.Pro945Arg) c.3098C>G (p.Pro1033Arg) c.3020C>G (p.Pro1007Arg) c.2987C>G (p.Pro996Arg) c.2996C>G (p.Pro999Arg) c.2006C>G (p.Pro669Arg) | |
1 | g.154588175G>T | CA342636030 | ADAR | c.2863C>A (n.2863C>A) c.2999C>A (p.Pro1000His) c.2852C>A (p.Pro951His) c.2621C>A (p.Pro874His) c.2084C>A (p.Pro695His) c.2969C>A (p.Pro990His) c.2891C>A (p.Pro964His) n.2954C>A c.*444C>A (n.*444C>A) n.3297C>A c.*1201C>A (n.*1201C>A) n.3422C>A c.2027C>A (p.Pro676His) c.*2491C>A (n.*2491C>A) n.2229C>A c.*2569C>A (n.*2569C>A) c.2876C>A (p.Pro959His) n.106C>A n.428C>A c.2834C>A (p.Pro945His) c.3098C>A (p.Pro1033His) c.3020C>A (p.Pro1007His) c.2987C>A (p.Pro996His) c.2996C>A (p.Pro999His) c.2006C>A (p.Pro669His) | |
1 | g.154588176G>A | CA342636032 | ADAR | c.2862C>T (n.2862C>T) c.2998C>T (p.Pro1000Ser) c.2851C>T (p.Pro951Ser) c.2620C>T (p.Pro874Ser) c.2083C>T (p.Pro695Ser) c.2968C>T (p.Pro990Ser) c.2890C>T (p.Pro964Ser) n.2953C>T c.*443C>T (n.*443C>T) n.3296C>T c.*1200C>T (n.*1200C>T) n.3421C>T c.2026C>T (p.Pro676Ser) c.*2490C>T (n.*2490C>T) n.2228C>T c.*2568C>T (n.*2568C>T) c.2875C>T (p.Pro959Ser) n.105C>T n.427C>T c.2833C>T (p.Pro945Ser) c.3097C>T (p.Pro1033Ser) c.3019C>T (p.Pro1007Ser) c.2986C>T (p.Pro996Ser) c.2995C>T (p.Pro999Ser) c.2005C>T (p.Pro669Ser) | |
1 | g.154588176G>C | CA342636033 | ADAR | c.2862C>G (n.2862C>G) c.2998C>G (p.Pro1000Ala) c.2851C>G (p.Pro951Ala) c.2620C>G (p.Pro874Ala) c.2083C>G (p.Pro695Ala) c.2968C>G (p.Pro990Ala) c.2890C>G (p.Pro964Ala) n.2953C>G c.*443C>G (n.*443C>G) n.3296C>G c.*1200C>G (n.*1200C>G) n.3421C>G c.2026C>G (p.Pro676Ala) c.*2490C>G (n.*2490C>G) n.2228C>G c.*2568C>G (n.*2568C>G) c.2875C>G (p.Pro959Ala) n.105C>G n.427C>G c.2833C>G (p.Pro945Ala) c.3097C>G (p.Pro1033Ala) c.3019C>G (p.Pro1007Ala) c.2986C>G (p.Pro996Ala) c.2995C>G (p.Pro999Ala) c.2005C>G (p.Pro669Ala) | |
1 | g.154588176G>T | CA342636034 | ADAR | c.2862C>A (n.2862C>A) c.2998C>A (p.Pro1000Thr) c.2851C>A (p.Pro951Thr) c.2620C>A (p.Pro874Thr) c.2083C>A (p.Pro695Thr) c.2968C>A (p.Pro990Thr) c.2890C>A (p.Pro964Thr) n.2953C>A c.*443C>A (n.*443C>A) n.3296C>A c.*1200C>A (n.*1200C>A) n.3421C>A c.2026C>A (p.Pro676Thr) c.*2490C>A (n.*2490C>A) n.2228C>A c.*2568C>A (n.*2568C>A) c.2875C>A (p.Pro959Thr) n.105C>A n.427C>A c.2833C>A (p.Pro945Thr) c.3097C>A (p.Pro1033Thr) c.3019C>A (p.Pro1007Thr) c.2986C>A (p.Pro996Thr) c.2995C>A (p.Pro999Thr) c.2005C>A (p.Pro669Thr) | |
1 | g.154588177G>A | CA421231944 | ADAR | c.2861C>T (n.2861C>T) c.2997C>T (p.Tyr999=) c.2850C>T (p.Tyr950=) c.2619C>T (p.Tyr873=) c.2082C>T (p.Tyr694=) c.2967C>T (p.Tyr989=) c.2889C>T (p.Tyr963=) n.2952C>T c.*442C>T (n.*442C>T) n.3295C>T c.*1199C>T (n.*1199C>T) n.3420C>T c.2025C>T (p.Tyr675=) c.*2489C>T (n.*2489C>T) n.2227C>T c.*2567C>T (n.*2567C>T) c.2874C>T (p.Tyr958=) n.104C>T n.426C>T c.2832C>T (p.Tyr944=) c.3096C>T (p.Tyr1032=) c.3018C>T (p.Tyr1006=) c.2985C>T (p.Tyr995=) c.2994C>T (p.Tyr998=) c.2004C>T (p.Tyr668=) | ClinVar |
1 | g.154588177G>C | CA342636035 | ADAR | c.2861C>G (n.2861C>G) c.2997C>G (p.Tyr999Ter) c.2850C>G (p.Tyr950Ter) c.2619C>G (p.Tyr873Ter) c.2082C>G (p.Tyr694Ter) c.2967C>G (p.Tyr989Ter) c.2889C>G (p.Tyr963Ter) n.2952C>G c.*442C>G (n.*442C>G) n.3295C>G c.*1199C>G (n.*1199C>G) n.3420C>G c.2025C>G (p.Tyr675Ter) c.*2489C>G (n.*2489C>G) n.2227C>G c.*2567C>G (n.*2567C>G) c.2874C>G (p.Tyr958Ter) n.104C>G n.426C>G c.2832C>G (p.Tyr944Ter) c.3096C>G (p.Tyr1032Ter) c.3018C>G (p.Tyr1006Ter) c.2985C>G (p.Tyr995Ter) c.2994C>G (p.Tyr998Ter) c.2004C>G (p.Tyr668Ter) | |
1 | g.154588177G>T | CA342636036 | ADAR | c.2861C>A (n.2861C>A) c.2997C>A (p.Tyr999Ter) c.2850C>A (p.Tyr950Ter) c.2619C>A (p.Tyr873Ter) c.2082C>A (p.Tyr694Ter) c.2967C>A (p.Tyr989Ter) c.2889C>A (p.Tyr963Ter) n.2952C>A c.*442C>A (n.*442C>A) n.3295C>A c.*1199C>A (n.*1199C>A) n.3420C>A c.2025C>A (p.Tyr675Ter) c.*2489C>A (n.*2489C>A) n.2227C>A c.*2567C>A (n.*2567C>A) c.2874C>A (p.Tyr958Ter) n.104C>A n.426C>A c.2832C>A (p.Tyr944Ter) c.3096C>A (p.Tyr1032Ter) c.3018C>A (p.Tyr1006Ter) c.2985C>A (p.Tyr995Ter) c.2994C>A (p.Tyr998Ter) c.2004C>A (p.Tyr668Ter) | |
1 | g.154588178T>A | CA342636037 | ADAR | c.2860A>T (n.2860A>T) c.2996A>T (p.Tyr999Phe) c.2849A>T (p.Tyr950Phe) c.2618A>T (p.Tyr873Phe) c.2081A>T (p.Tyr694Phe) c.2966A>T (p.Tyr989Phe) c.2888A>T (p.Tyr963Phe) n.2951A>T c.*441A>T (n.*441A>T) n.3294A>T c.*1198A>T (n.*1198A>T) n.3419A>T c.2024A>T (p.Tyr675Phe) c.*2488A>T (n.*2488A>T) n.2226A>T c.*2566A>T (n.*2566A>T) c.2873A>T (p.Tyr958Phe) n.103A>T n.425A>T c.2831A>T (p.Tyr944Phe) c.3095A>T (p.Tyr1032Phe) c.3017A>T (p.Tyr1006Phe) c.2984A>T (p.Tyr995Phe) c.2993A>T (p.Tyr998Phe) c.2003A>T (p.Tyr668Phe) | |
1 | g.154588178T>C | CA1131092 | ADAR | c.2860A>G (n.2860A>G) c.2996A>G (p.Tyr999Cys) c.2849A>G (p.Tyr950Cys) c.2618A>G (p.Tyr873Cys) c.2081A>G (p.Tyr694Cys) c.2966A>G (p.Tyr989Cys) c.2888A>G (p.Tyr963Cys) n.2951A>G c.*441A>G (n.*441A>G) n.3294A>G c.*1198A>G (n.*1198A>G) n.3419A>G c.2024A>G (p.Tyr675Cys) c.*2488A>G (n.*2488A>G) n.2226A>G c.*2566A>G (n.*2566A>G) c.2873A>G (p.Tyr958Cys) n.103A>G n.425A>G c.2831A>G (p.Tyr944Cys) c.3095A>G (p.Tyr1032Cys) c.3017A>G (p.Tyr1006Cys) c.2984A>G (p.Tyr995Cys) c.2993A>G (p.Tyr998Cys) c.2003A>G (p.Tyr668Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154588178T>G | CA342636038 | ADAR | c.2860A>C (n.2860A>C) c.2996A>C (p.Tyr999Ser) c.2849A>C (p.Tyr950Ser) c.2618A>C (p.Tyr873Ser) c.2081A>C (p.Tyr694Ser) c.2966A>C (p.Tyr989Ser) c.2888A>C (p.Tyr963Ser) n.2951A>C c.*441A>C (n.*441A>C) n.3294A>C c.*1198A>C (n.*1198A>C) n.3419A>C c.2024A>C (p.Tyr675Ser) c.*2488A>C (n.*2488A>C) n.2226A>C c.*2566A>C (n.*2566A>C) c.2873A>C (p.Tyr958Ser) n.103A>C n.425A>C c.2831A>C (p.Tyr944Ser) c.3095A>C (p.Tyr1032Ser) c.3017A>C (p.Tyr1006Ser) c.2984A>C (p.Tyr995Ser) c.2993A>C (p.Tyr998Ser) c.2003A>C (p.Tyr668Ser) | |
1 | g.154588178T= | CA2480932519 | ADAR | c.2860A= (n.2860A=) c.2996A= (p.Tyr999=) c.2849A= (p.Tyr950=) c.2618A= (p.Tyr873=) c.2081A= (p.Tyr694=) c.2966A= (p.Tyr989=) c.2888A= (p.Tyr963=) n.2951A= c.*441A= (n.*441A=) n.3294A= c.*1198A= (n.*1198A=) n.3419A= c.2024A= (p.Tyr675=) c.*2488A= (n.*2488A=) n.2226A= c.*2566A= (n.*2566A=) c.2873A= (p.Tyr958=) n.103A= n.425A= c.2831A= (p.Tyr944=) c.3095A= (p.Tyr1032=) c.3017A= (p.Tyr1006=) c.2984A= (p.Tyr995=) c.2993A= (p.Tyr998=) c.2003A= (p.Tyr668=) | |
1 | g.154588179A>C | CA342636039 | ADAR | c.2859T>G (n.2859T>G) c.2995T>G (p.Tyr999Asp) c.2848T>G (p.Tyr950Asp) c.2617T>G (p.Tyr873Asp) c.2080T>G (p.Tyr694Asp) c.2965T>G (p.Tyr989Asp) c.2887T>G (p.Tyr963Asp) n.2950T>G c.*440T>G (n.*440T>G) n.3293T>G c.*1197T>G (n.*1197T>G) n.3418T>G c.2023T>G (p.Tyr675Asp) c.*2487T>G (n.*2487T>G) n.2225T>G c.*2565T>G (n.*2565T>G) c.2872T>G (p.Tyr958Asp) n.102T>G n.424T>G c.2830T>G (p.Tyr944Asp) c.3094T>G (p.Tyr1032Asp) c.3016T>G (p.Tyr1006Asp) c.2983T>G (p.Tyr995Asp) c.2992T>G (p.Tyr998Asp) c.2002T>G (p.Tyr668Asp) | |
1 | g.154588179A>G | CA342636040 | ADAR | c.2859T>C (n.2859T>C) c.2995T>C (p.Tyr999His) c.2848T>C (p.Tyr950His) c.2617T>C (p.Tyr873His) c.2080T>C (p.Tyr694His) c.2965T>C (p.Tyr989His) c.2887T>C (p.Tyr963His) n.2950T>C c.*440T>C (n.*440T>C) n.3293T>C c.*1197T>C (n.*1197T>C) n.3418T>C c.2023T>C (p.Tyr675His) c.*2487T>C (n.*2487T>C) n.2225T>C c.*2565T>C (n.*2565T>C) c.2872T>C (p.Tyr958His) n.102T>C n.424T>C c.2830T>C (p.Tyr944His) c.3094T>C (p.Tyr1032His) c.3016T>C (p.Tyr1006His) c.2983T>C (p.Tyr995His) c.2992T>C (p.Tyr998His) c.2002T>C (p.Tyr668His) | |
1 | g.154588179A>T | CA342636041 | ADAR | c.2859T>A (n.2859T>A) c.2995T>A (p.Tyr999Asn) c.2848T>A (p.Tyr950Asn) c.2617T>A (p.Tyr873Asn) c.2080T>A (p.Tyr694Asn) c.2965T>A (p.Tyr989Asn) c.2887T>A (p.Tyr963Asn) n.2950T>A c.*440T>A (n.*440T>A) n.3293T>A c.*1197T>A (n.*1197T>A) n.3418T>A c.2023T>A (p.Tyr675Asn) c.*2487T>A (n.*2487T>A) n.2225T>A c.*2565T>A (n.*2565T>A) c.2872T>A (p.Tyr958Asn) n.102T>A n.424T>A c.2830T>A (p.Tyr944Asn) c.3094T>A (p.Tyr1032Asn) c.3016T>A (p.Tyr1006Asn) c.2983T>A (p.Tyr995Asn) c.2992T>A (p.Tyr998Asn) c.2002T>A (p.Tyr668Asn) | |
1 | g.154588180G>A | CA421231945 | ADAR | c.2858C>T (n.2858C>T) c.2994C>T (p.His998=) c.2847C>T (p.His949=) c.2616C>T (p.His872=) c.2079C>T (p.His693=) c.2964C>T (p.His988=) c.2886C>T (p.His962=) n.2949C>T c.*439C>T (n.*439C>T) n.3292C>T c.*1196C>T (n.*1196C>T) n.3417C>T c.2022C>T (p.His674=) c.*2486C>T (n.*2486C>T) n.2224C>T c.*2564C>T (n.*2564C>T) c.2871C>T (p.His957=) n.101C>T n.423C>T c.2829C>T (p.His943=) c.3093C>T (p.His1031=) c.3015C>T (p.His1005=) c.2982C>T (p.His994=) c.2991C>T (p.His997=) c.2001C>T (p.His667=) | |
1 | g.154588180G>C | CA342636043 | ADAR | c.2858C>G (n.2858C>G) c.2994C>G (p.His998Gln) c.2847C>G (p.His949Gln) c.2616C>G (p.His872Gln) c.2079C>G (p.His693Gln) c.2964C>G (p.His988Gln) c.2886C>G (p.His962Gln) n.2949C>G c.*439C>G (n.*439C>G) n.3292C>G c.*1196C>G (n.*1196C>G) n.3417C>G c.2022C>G (p.His674Gln) c.*2486C>G (n.*2486C>G) n.2224C>G c.*2564C>G (n.*2564C>G) c.2871C>G (p.His957Gln) n.101C>G n.423C>G c.2829C>G (p.His943Gln) c.3093C>G (p.His1031Gln) c.3015C>G (p.His1005Gln) c.2982C>G (p.His994Gln) c.2991C>G (p.His997Gln) c.2001C>G (p.His667Gln) | |
1 | g.154588180G>T | CA342636042 | ADAR | c.2858C>A (n.2858C>A) c.2994C>A (p.His998Gln) c.2847C>A (p.His949Gln) c.2616C>A (p.His872Gln) c.2079C>A (p.His693Gln) c.2964C>A (p.His988Gln) c.2886C>A (p.His962Gln) n.2949C>A c.*439C>A (n.*439C>A) n.3292C>A c.*1196C>A (n.*1196C>A) n.3417C>A c.2022C>A (p.His674Gln) c.*2486C>A (n.*2486C>A) n.2224C>A c.*2564C>A (n.*2564C>A) c.2871C>A (p.His957Gln) n.101C>A n.423C>A c.2829C>A (p.His943Gln) c.3093C>A (p.His1031Gln) c.3015C>A (p.His1005Gln) c.2982C>A (p.His994Gln) c.2991C>A (p.His997Gln) c.2001C>A (p.His667Gln) | |
1 | g.154588181T>A | CA342636044 | ADAR | c.2857A>T (n.2857A>T) c.2993A>T (p.His998Leu) c.2846A>T (p.His949Leu) c.2615A>T (p.His872Leu) c.2078A>T (p.His693Leu) c.2963A>T (p.His988Leu) c.2885A>T (p.His962Leu) n.2948A>T c.*438A>T (n.*438A>T) n.3291A>T c.*1195A>T (n.*1195A>T) n.3416A>T c.2021A>T (p.His674Leu) c.*2485A>T (n.*2485A>T) n.2223A>T c.*2563A>T (n.*2563A>T) c.2870A>T (p.His957Leu) n.100A>T n.422A>T c.2828A>T (p.His943Leu) c.3092A>T (p.His1031Leu) c.3014A>T (p.His1005Leu) c.2981A>T (p.His994Leu) c.2990A>T (p.His997Leu) c.2000A>T (p.His667Leu) | |
1 | g.154588181T>C | CA30851414 | ADAR | c.2857A>G (n.2857A>G) c.2993A>G (p.His998Arg) c.2846A>G (p.His949Arg) c.2615A>G (p.His872Arg) c.2078A>G (p.His693Arg) c.2963A>G (p.His988Arg) c.2885A>G (p.His962Arg) n.2948A>G c.*438A>G (n.*438A>G) n.3291A>G c.*1195A>G (n.*1195A>G) n.3416A>G c.2021A>G (p.His674Arg) c.*2485A>G (n.*2485A>G) n.2223A>G c.*2563A>G (n.*2563A>G) c.2870A>G (p.His957Arg) n.100A>G n.422A>G c.2828A>G (p.His943Arg) c.3092A>G (p.His1031Arg) c.3014A>G (p.His1005Arg) c.2981A>G (p.His994Arg) c.2990A>G (p.His997Arg) c.2000A>G (p.His667Arg) | ClinVar dbSNP |
1 | g.154588181T>G | CA342636045 | ADAR | c.2857A>C (n.2857A>C) c.2993A>C (p.His998Pro) c.2846A>C (p.His949Pro) c.2615A>C (p.His872Pro) c.2078A>C (p.His693Pro) c.2963A>C (p.His988Pro) c.2885A>C (p.His962Pro) n.2948A>C c.*438A>C (n.*438A>C) n.3291A>C c.*1195A>C (n.*1195A>C) n.3416A>C c.2021A>C (p.His674Pro) c.*2485A>C (n.*2485A>C) n.2223A>C c.*2563A>C (n.*2563A>C) c.2870A>C (p.His957Pro) n.100A>C n.422A>C c.2828A>C (p.His943Pro) c.3092A>C (p.His1031Pro) c.3014A>C (p.His1005Pro) c.2981A>C (p.His994Pro) c.2990A>C (p.His997Pro) c.2000A>C (p.His667Pro) | |
1 | g.154588181T= | CA1141696422 | ADAR | c.2857A= (n.2857A=) c.2993A= (p.His998=) c.2846A= (p.His949=) c.2615A= (p.His872=) c.2078A= (p.His693=) c.2963A= (p.His988=) c.2885A= (p.His962=) n.2948A= c.*438A= (n.*438A=) n.3291A= c.*1195A= (n.*1195A=) n.3416A= c.2021A= (p.His674=) c.*2485A= (n.*2485A=) n.2223A= c.*2563A= (n.*2563A=) c.2870A= (p.His957=) n.100A= n.422A= c.2828A= (p.His943=) c.3092A= (p.His1031=) c.3014A= (p.His1005=) c.2981A= (p.His994=) c.2990A= (p.His997=) c.2000A= (p.His667=) | |
1 | g.154588182G>A | CA342636046 | ADAR | c.2856C>T (n.2856C>T) c.2992C>T (p.His998Tyr) c.2845C>T (p.His949Tyr) c.2614C>T (p.His872Tyr) c.2077C>T (p.His693Tyr) c.2962C>T (p.His988Tyr) c.2884C>T (p.His962Tyr) n.2947C>T c.*437C>T (n.*437C>T) n.3290C>T c.*1194C>T (n.*1194C>T) n.3415C>T c.2020C>T (p.His674Tyr) c.*2484C>T (n.*2484C>T) n.2222C>T c.*2562C>T (n.*2562C>T) c.2869C>T (p.His957Tyr) n.99C>T n.421C>T c.2827C>T (p.His943Tyr) c.3091C>T (p.His1031Tyr) c.3013C>T (p.His1005Tyr) c.2980C>T (p.His994Tyr) c.2989C>T (p.His997Tyr) c.1999C>T (p.His667Tyr) | |
1 | g.154588182G>C | CA342636047 | ADAR | c.2856C>G (n.2856C>G) c.2992C>G (p.His998Asp) c.2845C>G (p.His949Asp) c.2614C>G (p.His872Asp) c.2077C>G (p.His693Asp) c.2962C>G (p.His988Asp) c.2884C>G (p.His962Asp) n.2947C>G c.*437C>G (n.*437C>G) n.3290C>G c.*1194C>G (n.*1194C>G) n.3415C>G c.2020C>G (p.His674Asp) c.*2484C>G (n.*2484C>G) n.2222C>G c.*2562C>G (n.*2562C>G) c.2869C>G (p.His957Asp) n.99C>G n.421C>G c.2827C>G (p.His943Asp) c.3091C>G (p.His1031Asp) c.3013C>G (p.His1005Asp) c.2980C>G (p.His994Asp) c.2989C>G (p.His997Asp) c.1999C>G (p.His667Asp) | gnomAD v4 |
1 | g.154588182G>T | CA342636048 | ADAR | c.2856C>A (n.2856C>A) c.2992C>A (p.His998Asn) c.2845C>A (p.His949Asn) c.2614C>A (p.His872Asn) c.2077C>A (p.His693Asn) c.2962C>A (p.His988Asn) c.2884C>A (p.His962Asn) n.2947C>A c.*437C>A (n.*437C>A) n.3290C>A c.*1194C>A (n.*1194C>A) n.3415C>A c.2020C>A (p.His674Asn) c.*2484C>A (n.*2484C>A) n.2222C>A c.*2562C>A (n.*2562C>A) c.2869C>A (p.His957Asn) n.99C>A n.421C>A c.2827C>A (p.His943Asn) c.3091C>A (p.His1031Asn) c.3013C>A (p.His1005Asn) c.2980C>A (p.His994Asn) c.2989C>A (p.His997Asn) c.1999C>A (p.His667Asn) | |
1 | g.154588183G>A | CA421231946 | ADAR | c.2855C>T (n.2855C>T) c.2991C>T (p.Arg997=) c.2844C>T (p.Arg948=) c.2613C>T (p.Arg871=) c.2076C>T (p.Arg692=) c.2961C>T (p.Arg987=) c.2883C>T (p.Arg961=) n.2946C>T c.*436C>T (n.*436C>T) n.3289C>T c.*1193C>T (n.*1193C>T) n.3414C>T c.2019C>T (p.Arg673=) c.*2483C>T (n.*2483C>T) n.2221C>T c.*2561C>T (n.*2561C>T) c.2868C>T (p.Arg956=) n.98C>T n.420C>T c.2826C>T (p.Arg942=) c.3090C>T (p.Arg1030=) c.3012C>T (p.Arg1004=) c.2979C>T (p.Arg993=) c.2988C>T (p.Arg996=) c.1998C>T (p.Arg666=) | gnomAD v4 |
1 | g.154588183G>C | CA421231947 | ADAR | c.2855C>G (n.2855C>G) c.2991C>G (p.Arg997=) c.2844C>G (p.Arg948=) c.2613C>G (p.Arg871=) c.2076C>G (p.Arg692=) c.2961C>G (p.Arg987=) c.2883C>G (p.Arg961=) n.2946C>G c.*436C>G (n.*436C>G) n.3289C>G c.*1193C>G (n.*1193C>G) n.3414C>G c.2019C>G (p.Arg673=) c.*2483C>G (n.*2483C>G) n.2221C>G c.*2561C>G (n.*2561C>G) c.2868C>G (p.Arg956=) n.98C>G n.420C>G c.2826C>G (p.Arg942=) c.3090C>G (p.Arg1030=) c.3012C>G (p.Arg1004=) c.2979C>G (p.Arg993=) c.2988C>G (p.Arg996=) c.1998C>G (p.Arg666=) | |
1 | g.154588183G>T | CA421231948 | ADAR | c.2855C>A (n.2855C>A) c.2991C>A (p.Arg997=) c.2844C>A (p.Arg948=) c.2613C>A (p.Arg871=) c.2076C>A (p.Arg692=) c.2961C>A (p.Arg987=) c.2883C>A (p.Arg961=) n.2946C>A c.*436C>A (n.*436C>A) n.3289C>A c.*1193C>A (n.*1193C>A) n.3414C>A c.2019C>A (p.Arg673=) c.*2483C>A (n.*2483C>A) n.2221C>A c.*2561C>A (n.*2561C>A) c.2868C>A (p.Arg956=) n.98C>A n.420C>A c.2826C>A (p.Arg942=) c.3090C>A (p.Arg1030=) c.3012C>A (p.Arg1004=) c.2979C>A (p.Arg993=) c.2988C>A (p.Arg996=) c.1998C>A (p.Arg666=) | gnomAD v4 |
1 | g.154588184C>A | CA342636049 | ADAR | c.2854G>T (n.2854G>T) c.2990G>T (p.Arg997Leu) c.2843G>T (p.Arg948Leu) c.2612G>T (p.Arg871Leu) c.2075G>T (p.Arg692Leu) c.2960G>T (p.Arg987Leu) c.2882G>T (p.Arg961Leu) n.2945G>T c.*435G>T (n.*435G>T) n.3288G>T c.*1192G>T (n.*1192G>T) n.3413G>T c.2018G>T (p.Arg673Leu) c.*2482G>T (n.*2482G>T) n.2220G>T c.*2560G>T (n.*2560G>T) c.2867G>T (p.Arg956Leu) n.97G>T n.419G>T c.2825G>T (p.Arg942Leu) c.3089G>T (p.Arg1030Leu) c.3011G>T (p.Arg1004Leu) c.2978G>T (p.Arg993Leu) c.2987G>T (p.Arg996Leu) c.1997G>T (p.Arg666Leu) | |
1 | g.154588184C= | CA2480932520 | ADAR | c.2854G= (n.2854G=) c.2990G= (p.Arg997=) c.2843G= (p.Arg948=) c.2612G= (p.Arg871=) c.2075G= (p.Arg692=) c.2960G= (p.Arg987=) c.2882G= (p.Arg961=) n.2945G= c.*435G= (n.*435G=) n.3288G= c.*1192G= (n.*1192G=) n.3413G= c.2018G= (p.Arg673=) c.*2482G= (n.*2482G=) n.2220G= c.*2560G= (n.*2560G=) c.2867G= (p.Arg956=) n.97G= n.419G= c.2825G= (p.Arg942=) c.3089G= (p.Arg1030=) c.3011G= (p.Arg1004=) c.2978G= (p.Arg993=) c.2987G= (p.Arg996=) c.1997G= (p.Arg666=) | |
1 | g.154588184C>G | CA342636050 | ADAR | c.2854G>C (n.2854G>C) c.2990G>C (p.Arg997Pro) c.2843G>C (p.Arg948Pro) c.2612G>C (p.Arg871Pro) c.2075G>C (p.Arg692Pro) c.2960G>C (p.Arg987Pro) c.2882G>C (p.Arg961Pro) n.2945G>C c.*435G>C (n.*435G>C) n.3288G>C c.*1192G>C (n.*1192G>C) n.3413G>C c.2018G>C (p.Arg673Pro) c.*2482G>C (n.*2482G>C) n.2220G>C c.*2560G>C (n.*2560G>C) c.2867G>C (p.Arg956Pro) n.97G>C n.419G>C c.2825G>C (p.Arg942Pro) c.3089G>C (p.Arg1030Pro) c.3011G>C (p.Arg1004Pro) c.2978G>C (p.Arg993Pro) c.2987G>C (p.Arg996Pro) c.1997G>C (p.Arg666Pro) | |
1 | g.154588184C>T | CA1131093 | ADAR | c.2854G>A (n.2854G>A) c.2990G>A (p.Arg997His) c.2843G>A (p.Arg948His) c.2612G>A (p.Arg871His) c.2075G>A (p.Arg692His) c.2960G>A (p.Arg987His) c.2882G>A (p.Arg961His) n.2945G>A c.*435G>A (n.*435G>A) n.3288G>A c.*1192G>A (n.*1192G>A) n.3413G>A c.2018G>A (p.Arg673His) c.*2482G>A (n.*2482G>A) n.2220G>A c.*2560G>A (n.*2560G>A) c.2867G>A (p.Arg956His) n.97G>A n.419G>A c.2825G>A (p.Arg942His) c.3089G>A (p.Arg1030His) c.3011G>A (p.Arg1004His) c.2978G>A (p.Arg993His) c.2987G>A (p.Arg996His) c.1997G>A (p.Arg666His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.154588185G>A | CA1131094 | ADAR | c.2853C>T (n.2853C>T) c.2989C>T (p.Arg997Cys) c.2842C>T (p.Arg948Cys) c.2611C>T (p.Arg871Cys) c.2074C>T (p.Arg692Cys) c.2959C>T (p.Arg987Cys) c.2881C>T (p.Arg961Cys) n.2944C>T c.*434C>T (n.*434C>T) n.3287C>T c.*1191C>T (n.*1191C>T) n.3412C>T c.2017C>T (p.Arg673Cys) c.*2481C>T (n.*2481C>T) n.2219C>T c.*2559C>T (n.*2559C>T) c.2866C>T (p.Arg956Cys) n.96C>T n.418C>T c.2824C>T (p.Arg942Cys) c.3088C>T (p.Arg1030Cys) c.3010C>T (p.Arg1004Cys) c.2977C>T (p.Arg993Cys) c.2986C>T (p.Arg996Cys) c.1996C>T (p.Arg666Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.154588185G>C | CA342636051 | ADAR | c.2853C>G (n.2853C>G) c.2989C>G (p.Arg997Gly) c.2842C>G (p.Arg948Gly) c.2611C>G (p.Arg871Gly) c.2074C>G (p.Arg692Gly) c.2959C>G (p.Arg987Gly) c.2881C>G (p.Arg961Gly) n.2944C>G c.*434C>G (n.*434C>G) n.3287C>G c.*1191C>G (n.*1191C>G) n.3412C>G c.2017C>G (p.Arg673Gly) c.*2481C>G (n.*2481C>G) n.2219C>G c.*2559C>G (n.*2559C>G) c.2866C>G (p.Arg956Gly) n.96C>G n.418C>G c.2824C>G (p.Arg942Gly) c.3088C>G (p.Arg1030Gly) c.3010C>G (p.Arg1004Gly) c.2977C>G (p.Arg993Gly) c.2986C>G (p.Arg996Gly) c.1996C>G (p.Arg666Gly) | |
1 | g.154588185G= | CA2480932521 | ADAR | c.2853C= (n.2853C=) c.2989C= (p.Arg997=) c.2842C= (p.Arg948=) c.2611C= (p.Arg871=) c.2074C= (p.Arg692=) c.2959C= (p.Arg987=) c.2881C= (p.Arg961=) n.2944C= c.*434C= (n.*434C=) n.3287C= c.*1191C= (n.*1191C=) n.3412C= c.2017C= (p.Arg673=) c.*2481C= (n.*2481C=) n.2219C= c.*2559C= (n.*2559C=) c.2866C= (p.Arg956=) n.96C= n.418C= c.2824C= (p.Arg942=) c.3088C= (p.Arg1030=) c.3010C= (p.Arg1004=) c.2977C= (p.Arg993=) c.2986C= (p.Arg996=) c.1996C= (p.Arg666=) | |
1 | g.154588185G>T | CA342636052 | ADAR | c.2853C>A (n.2853C>A) c.2989C>A (p.Arg997Ser) c.2842C>A (p.Arg948Ser) c.2611C>A (p.Arg871Ser) c.2074C>A (p.Arg692Ser) c.2959C>A (p.Arg987Ser) c.2881C>A (p.Arg961Ser) n.2944C>A c.*434C>A (n.*434C>A) n.3287C>A c.*1191C>A (n.*1191C>A) n.3412C>A c.2017C>A (p.Arg673Ser) c.*2481C>A (n.*2481C>A) n.2219C>A c.*2559C>A (n.*2559C>A) c.2866C>A (p.Arg956Ser) n.96C>A n.418C>A c.2824C>A (p.Arg942Ser) c.3088C>A (p.Arg1030Ser) c.3010C>A (p.Arg1004Ser) c.2977C>A (p.Arg993Ser) c.2986C>A (p.Arg996Ser) c.1996C>A (p.Arg666Ser) | |
1 | g.154588187dup | CA2841902768 | ADAR | c.2853dup (n.2853dup) c.2989dup (p.Arg997ProfsTer?) c.2842dup (p.Arg948ProfsTer?) c.2611dup (p.Arg871ProfsTer?) c.2074dup (p.Arg692ProfsTer?) c.2959dup (p.Arg987ProfsTer?) c.2881dup (p.Arg961ProfsTer?) n.2944dup c.*434dup (n.*434dup) n.3287dup c.*1191dup (n.*1191dup) n.3412dup c.2017dup (p.Arg673ProfsTer?) c.*2481dup (n.*2481dup) n.2219dup c.*2559dup (n.*2559dup) c.2866dup (p.Arg956ProfsTer?) n.96dup n.418dup c.2824dup (p.Arg942ProfsTer?) c.3088dup (p.Arg1030ProfsTer?) c.3010dup (p.Arg1004ProfsTer?) c.2977dup (p.Arg993ProfsTer?) c.2986dup (p.Arg996ProfsTer?) c.1996dup (p.Arg666ProfsTer?) | |
1 | g.154588186G>A | CA421231949 | ADAR | c.2852C>T (n.2852C>T) c.2988C>T (p.Ser996=) c.2841C>T (p.Ser947=) c.2610C>T (p.Ser870=) c.2073C>T (p.Ser691=) c.2958C>T (p.Ser986=) c.2880C>T (p.Ser960=) n.2943C>T c.*433C>T (n.*433C>T) n.3286C>T c.*1190C>T (n.*1190C>T) n.3411C>T c.2016C>T (p.Ser672=) c.*2480C>T (n.*2480C>T) n.2218C>T c.*2558C>T (n.*2558C>T) c.2865C>T (p.Ser955=) n.95C>T n.417C>T c.2823C>T (p.Ser941=) c.3087C>T (p.Ser1029=) c.3009C>T (p.Ser1003=) c.2976C>T (p.Ser992=) c.2985C>T (p.Ser995=) c.1995C>T (p.Ser665=) | |
1 | g.154588186G>C | CA421231950 | ADAR | c.2852C>G (n.2852C>G) c.2988C>G (p.Ser996=) c.2841C>G (p.Ser947=) c.2610C>G (p.Ser870=) c.2073C>G (p.Ser691=) c.2958C>G (p.Ser986=) c.2880C>G (p.Ser960=) n.2943C>G c.*433C>G (n.*433C>G) n.3286C>G c.*1190C>G (n.*1190C>G) n.3411C>G c.2016C>G (p.Ser672=) c.*2480C>G (n.*2480C>G) n.2218C>G c.*2558C>G (n.*2558C>G) c.2865C>G (p.Ser955=) n.95C>G n.417C>G c.2823C>G (p.Ser941=) c.3087C>G (p.Ser1029=) c.3009C>G (p.Ser1003=) c.2976C>G (p.Ser992=) c.2985C>G (p.Ser995=) c.1995C>G (p.Ser665=) | |
1 | g.154588186G>T | CA421231951 | ADAR | c.2852C>A (n.2852C>A) c.2988C>A (p.Ser996=) c.2841C>A (p.Ser947=) c.2610C>A (p.Ser870=) c.2073C>A (p.Ser691=) c.2958C>A (p.Ser986=) c.2880C>A (p.Ser960=) n.2943C>A c.*433C>A (n.*433C>A) n.3286C>A c.*1190C>A (n.*1190C>A) n.3411C>A c.2016C>A (p.Ser672=) c.*2480C>A (n.*2480C>A) n.2218C>A c.*2558C>A (n.*2558C>A) c.2865C>A (p.Ser955=) n.95C>A n.417C>A c.2823C>A (p.Ser941=) c.3087C>A (p.Ser1029=) c.3009C>A (p.Ser1003=) c.2976C>A (p.Ser992=) c.2985C>A (p.Ser995=) c.1995C>A (p.Ser665=) | |
1 | g.154588187G>A | CA1131095 | ADAR | c.2851C>T (n.2851C>T) c.2987C>T (p.Ser996Phe) c.2840C>T (p.Ser947Phe) c.2609C>T (p.Ser870Phe) c.2072C>T (p.Ser691Phe) c.2957C>T (p.Ser986Phe) c.2879C>T (p.Ser960Phe) n.2942C>T c.*432C>T (n.*432C>T) n.3285C>T c.*1189C>T (n.*1189C>T) n.3410C>T c.2015C>T (p.Ser672Phe) c.*2479C>T (n.*2479C>T) n.2217C>T c.*2557C>T (n.*2557C>T) c.2864C>T (p.Ser955Phe) n.94C>T n.416C>T c.2822C>T (p.Ser941Phe) c.3086C>T (p.Ser1029Phe) c.3008C>T (p.Ser1003Phe) c.2975C>T (p.Ser992Phe) c.2984C>T (p.Ser995Phe) c.1994C>T (p.Ser665Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.154588187G>C | CA342636054 | ADAR | c.2851C>G (n.2851C>G) c.2987C>G (p.Ser996Cys) c.2840C>G (p.Ser947Cys) c.2609C>G (p.Ser870Cys) c.2072C>G (p.Ser691Cys) c.2957C>G (p.Ser986Cys) c.2879C>G (p.Ser960Cys) n.2942C>G c.*432C>G (n.*432C>G) n.3285C>G c.*1189C>G (n.*1189C>G) n.3410C>G c.2015C>G (p.Ser672Cys) c.*2479C>G (n.*2479C>G) n.2217C>G c.*2557C>G (n.*2557C>G) c.2864C>G (p.Ser955Cys) n.94C>G n.416C>G c.2822C>G (p.Ser941Cys) c.3086C>G (p.Ser1029Cys) c.3008C>G (p.Ser1003Cys) c.2975C>G (p.Ser992Cys) c.2984C>G (p.Ser995Cys) c.1994C>G (p.Ser665Cys) | |
1 | g.154588187G= | CA2480932522 | ADAR | c.2851C= (n.2851C=) c.2987C= (p.Ser996=) c.2840C= (p.Ser947=) c.2609C= (p.Ser870=) c.2072C= (p.Ser691=) c.2957C= (p.Ser986=) c.2879C= (p.Ser960=) n.2942C= c.*432C= (n.*432C=) n.3285C= c.*1189C= (n.*1189C=) n.3410C= c.2015C= (p.Ser672=) c.*2479C= (n.*2479C=) n.2217C= c.*2557C= (n.*2557C=) c.2864C= (p.Ser955=) n.94C= n.416C= c.2822C= (p.Ser941=) c.3086C= (p.Ser1029=) c.3008C= (p.Ser1003=) c.2975C= (p.Ser992=) c.2984C= (p.Ser995=) c.1994C= (p.Ser665=) | |
1 | g.154588187G>T | CA342636053 | ADAR | c.2851C>A (n.2851C>A) c.2987C>A (p.Ser996Tyr) c.2840C>A (p.Ser947Tyr) c.2609C>A (p.Ser870Tyr) c.2072C>A (p.Ser691Tyr) c.2957C>A (p.Ser986Tyr) c.2879C>A (p.Ser960Tyr) n.2942C>A c.*432C>A (n.*432C>A) n.3285C>A c.*1189C>A (n.*1189C>A) n.3410C>A c.2015C>A (p.Ser672Tyr) c.*2479C>A (n.*2479C>A) n.2217C>A c.*2557C>A (n.*2557C>A) c.2864C>A (p.Ser955Tyr) n.94C>A n.416C>A c.2822C>A (p.Ser941Tyr) c.3086C>A (p.Ser1029Tyr) c.3008C>A (p.Ser1003Tyr) c.2975C>A (p.Ser992Tyr) c.2984C>A (p.Ser995Tyr) c.1994C>A (p.Ser665Tyr) | |
1 | g.154588188A= | CA2480932523 | ADAR | c.2850T= (n.2850T=) c.2986T= (p.Ser996=) c.2839T= (p.Ser947=) c.2608T= (p.Ser870=) c.2071T= (p.Ser691=) c.2956T= (p.Ser986=) c.2878T= (p.Ser960=) n.2941T= c.*431T= (n.*431T=) n.3284T= c.*1188T= (n.*1188T=) n.3409T= c.2014T= (p.Ser672=) c.*2478T= (n.*2478T=) n.2216T= c.*2556T= (n.*2556T=) c.2863T= (p.Ser955=) n.93T= n.415T= c.2821T= (p.Ser941=) c.3085T= (p.Ser1029=) c.3007T= (p.Ser1003=) c.2974T= (p.Ser992=) c.2983T= (p.Ser995=) c.1993T= (p.Ser665=) | |
1 | g.154588188A>C | CA342636055 | ADAR | c.2850T>G (n.2850T>G) c.2986T>G (p.Ser996Ala) c.2839T>G (p.Ser947Ala) c.2608T>G (p.Ser870Ala) c.2071T>G (p.Ser691Ala) c.2956T>G (p.Ser986Ala) c.2878T>G (p.Ser960Ala) n.2941T>G c.*431T>G (n.*431T>G) n.3284T>G c.*1188T>G (n.*1188T>G) n.3409T>G c.2014T>G (p.Ser672Ala) c.*2478T>G (n.*2478T>G) n.2216T>G c.*2556T>G (n.*2556T>G) c.2863T>G (p.Ser955Ala) n.93T>G n.415T>G c.2821T>G (p.Ser941Ala) c.3085T>G (p.Ser1029Ala) c.3007T>G (p.Ser1003Ala) c.2974T>G (p.Ser992Ala) c.2983T>G (p.Ser995Ala) c.1993T>G (p.Ser665Ala) | |
1 | g.154588188A>G | CA1131096 | ADAR | c.2850T>C (n.2850T>C) c.2986T>C (p.Ser996Pro) c.2839T>C (p.Ser947Pro) c.2608T>C (p.Ser870Pro) c.2071T>C (p.Ser691Pro) c.2956T>C (p.Ser986Pro) c.2878T>C (p.Ser960Pro) n.2941T>C c.*431T>C (n.*431T>C) n.3284T>C c.*1188T>C (n.*1188T>C) n.3409T>C c.2014T>C (p.Ser672Pro) c.*2478T>C (n.*2478T>C) n.2216T>C c.*2556T>C (n.*2556T>C) c.2863T>C (p.Ser955Pro) n.93T>C n.415T>C c.2821T>C (p.Ser941Pro) c.3085T>C (p.Ser1029Pro) c.3007T>C (p.Ser1003Pro) c.2974T>C (p.Ser992Pro) c.2983T>C (p.Ser995Pro) c.1993T>C (p.Ser665Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.154588188A>T | CA342636056 | ADAR | c.2850T>A (n.2850T>A) c.2986T>A (p.Ser996Thr) c.2839T>A (p.Ser947Thr) c.2608T>A (p.Ser870Thr) c.2071T>A (p.Ser691Thr) c.2956T>A (p.Ser986Thr) c.2878T>A (p.Ser960Thr) n.2941T>A c.*431T>A (n.*431T>A) n.3284T>A c.*1188T>A (n.*1188T>A) n.3409T>A c.2014T>A (p.Ser672Thr) c.*2478T>A (n.*2478T>A) n.2216T>A c.*2556T>A (n.*2556T>A) c.2863T>A (p.Ser955Thr) n.93T>A n.415T>A c.2821T>A (p.Ser941Thr) c.3085T>A (p.Ser1029Thr) c.3007T>A (p.Ser1003Thr) c.2974T>A (p.Ser992Thr) c.2983T>A (p.Ser995Thr) c.1993T>A (p.Ser665Thr) | |
1 | g.154588189T>A | CA342636057 | ADAR | c.2849A>T (n.2849A>T) c.2985A>T (p.Glu995Asp) c.2838A>T (p.Glu946Asp) c.2607A>T (p.Glu869Asp) c.2070A>T (p.Glu690Asp) c.2955A>T (p.Glu985Asp) c.2877A>T (p.Glu959Asp) n.2940A>T c.*430A>T (n.*430A>T) n.3283A>T c.*1187A>T (n.*1187A>T) n.3408A>T c.2013A>T (p.Glu671Asp) c.*2477A>T (n.*2477A>T) n.2215A>T c.*2555A>T (n.*2555A>T) c.2862A>T (p.Glu954Asp) n.92A>T n.414A>T c.2820A>T (p.Glu940Asp) c.3084A>T (p.Glu1028Asp) c.3006A>T (p.Glu1002Asp) c.2973A>T (p.Glu991Asp) c.2982A>T (p.Glu994Asp) c.1992A>T (p.Glu664Asp) | |
1 | g.154588189T>C | CA421231952 | ADAR | c.2849A>G (n.2849A>G) c.2985A>G (p.Glu995=) c.2838A>G (p.Glu946=) c.2607A>G (p.Glu869=) c.2070A>G (p.Glu690=) c.2955A>G (p.Glu985=) c.2877A>G (p.Glu959=) n.2940A>G c.*430A>G (n.*430A>G) n.3283A>G c.*1187A>G (n.*1187A>G) n.3408A>G c.2013A>G (p.Glu671=) c.*2477A>G (n.*2477A>G) n.2215A>G c.*2555A>G (n.*2555A>G) c.2862A>G (p.Glu954=) n.92A>G n.414A>G c.2820A>G (p.Glu940=) c.3084A>G (p.Glu1028=) c.3006A>G (p.Glu1002=) c.2973A>G (p.Glu991=) c.2982A>G (p.Glu994=) c.1992A>G (p.Glu664=) | dbSNP |
1 | g.154588189T>G | CA342636058 | ADAR | c.2849A>C (n.2849A>C) c.2985A>C (p.Glu995Asp) c.2838A>C (p.Glu946Asp) c.2607A>C (p.Glu869Asp) c.2070A>C (p.Glu690Asp) c.2955A>C (p.Glu985Asp) c.2877A>C (p.Glu959Asp) n.2940A>C c.*430A>C (n.*430A>C) n.3283A>C c.*1187A>C (n.*1187A>C) n.3408A>C c.2013A>C (p.Glu671Asp) c.*2477A>C (n.*2477A>C) n.2215A>C c.*2555A>C (n.*2555A>C) c.2862A>C (p.Glu954Asp) n.92A>C n.414A>C c.2820A>C (p.Glu940Asp) c.3084A>C (p.Glu1028Asp) c.3006A>C (p.Glu1002Asp) c.2973A>C (p.Glu991Asp) c.2982A>C (p.Glu994Asp) c.1992A>C (p.Glu664Asp) | dbSNP gnomAD v2 |
1 | g.154588189T= | CA2480932524 | ADAR | c.2849A= (n.2849A=) c.2985A= (p.Glu995=) c.2838A= (p.Glu946=) c.2607A= (p.Glu869=) c.2070A= (p.Glu690=) c.2955A= (p.Glu985=) c.2877A= (p.Glu959=) n.2940A= c.*430A= (n.*430A=) n.3283A= c.*1187A= (n.*1187A=) n.3408A= c.2013A= (p.Glu671=) c.*2477A= (n.*2477A=) n.2215A= c.*2555A= (n.*2555A=) c.2862A= (p.Glu954=) n.92A= n.414A= c.2820A= (p.Glu940=) c.3084A= (p.Glu1028=) c.3006A= (p.Glu1002=) c.2973A= (p.Glu991=) c.2982A= (p.Glu994=) c.1992A= (p.Glu664=) | |
1 | g.154588190T>A | CA342636059 | ADAR | c.2848A>T (n.2848A>T) c.2984A>T (p.Glu995Val) c.2837A>T (p.Glu946Val) c.2606A>T (p.Glu869Val) c.2069A>T (p.Glu690Val) c.2954A>T (p.Glu985Val) c.2876A>T (p.Glu959Val) n.2939A>T c.*429A>T (n.*429A>T) n.3282A>T c.*1186A>T (n.*1186A>T) n.3407A>T c.2012A>T (p.Glu671Val) c.*2476A>T (n.*2476A>T) n.2214A>T c.*2554A>T (n.*2554A>T) c.2861A>T (p.Glu954Val) n.91A>T n.413A>T c.2819A>T (p.Glu940Val) c.3083A>T (p.Glu1028Val) c.3005A>T (p.Glu1002Val) c.2972A>T (p.Glu991Val) c.2981A>T (p.Glu994Val) c.1991A>T (p.Glu664Val) | |
1 | g.154588190T>C | CA30851420 | ADAR | c.2848A>G (n.2848A>G) c.2984A>G (p.Glu995Gly) c.2837A>G (p.Glu946Gly) c.2606A>G (p.Glu869Gly) c.2069A>G (p.Glu690Gly) c.2954A>G (p.Glu985Gly) c.2876A>G (p.Glu959Gly) n.2939A>G c.*429A>G (n.*429A>G) n.3282A>G c.*1186A>G (n.*1186A>G) n.3407A>G c.2012A>G (p.Glu671Gly) c.*2476A>G (n.*2476A>G) n.2214A>G c.*2554A>G (n.*2554A>G) c.2861A>G (p.Glu954Gly) n.91A>G n.413A>G c.2819A>G (p.Glu940Gly) c.3083A>G (p.Glu1028Gly) c.3005A>G (p.Glu1002Gly) c.2972A>G (p.Glu991Gly) c.2981A>G (p.Glu994Gly) c.1991A>G (p.Glu664Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.154588190T>G | CA342636060 | ADAR | c.2848A>C (n.2848A>C) c.2984A>C (p.Glu995Ala) c.2837A>C (p.Glu946Ala) c.2606A>C (p.Glu869Ala) c.2069A>C (p.Glu690Ala) c.2954A>C (p.Glu985Ala) c.2876A>C (p.Glu959Ala) n.2939A>C c.*429A>C (n.*429A>C) n.3282A>C c.*1186A>C (n.*1186A>C) n.3407A>C c.2012A>C (p.Glu671Ala) c.*2476A>C (n.*2476A>C) n.2214A>C c.*2554A>C (n.*2554A>C) c.2861A>C (p.Glu954Ala) n.91A>C n.413A>C c.2819A>C (p.Glu940Ala) c.3083A>C (p.Glu1028Ala) c.3005A>C (p.Glu1002Ala) c.2972A>C (p.Glu991Ala) c.2981A>C (p.Glu994Ala) c.1991A>C (p.Glu664Ala) | |
1 | g.154588190T= | CA2480932525 | ADAR | c.2848A= (n.2848A=) c.2984A= (p.Glu995=) c.2837A= (p.Glu946=) c.2606A= (p.Glu869=) c.2069A= (p.Glu690=) c.2954A= (p.Glu985=) c.2876A= (p.Glu959=) n.2939A= c.*429A= (n.*429A=) n.3282A= c.*1186A= (n.*1186A=) n.3407A= c.2012A= (p.Glu671=) c.*2476A= (n.*2476A=) n.2214A= c.*2554A= (n.*2554A=) c.2861A= (p.Glu954=) n.91A= n.413A= c.2819A= (p.Glu940=) c.3083A= (p.Glu1028=) c.3005A= (p.Glu1002=) c.2972A= (p.Glu991=) c.2981A= (p.Glu994=) c.1991A= (p.Glu664=) | |
1 | g.154588191C>A | CA342636061 | ADAR | c.2847G>T (n.2847G>T) c.2983G>T (p.Glu995Ter) c.2836G>T (p.Glu946Ter) c.2605G>T (p.Glu869Ter) c.2068G>T (p.Glu690Ter) c.2953G>T (p.Glu985Ter) c.2875G>T (p.Glu959Ter) n.2938G>T c.*428G>T (n.*428G>T) n.3281G>T c.*1185G>T (n.*1185G>T) n.3406G>T c.2011G>T (p.Glu671Ter) c.*2475G>T (n.*2475G>T) n.2213G>T c.*2553G>T (n.*2553G>T) c.2860G>T (p.Glu954Ter) n.90G>T n.412G>T c.2818G>T (p.Glu940Ter) c.3082G>T (p.Glu1028Ter) c.3004G>T (p.Glu1002Ter) c.2971G>T (p.Glu991Ter) c.2980G>T (p.Glu994Ter) c.1990G>T (p.Glu664Ter) | |
1 | g.154588191C>G | CA342636062 | ADAR | c.2847G>C (n.2847G>C) c.2983G>C (p.Glu995Gln) c.2836G>C (p.Glu946Gln) c.2605G>C (p.Glu869Gln) c.2068G>C (p.Glu690Gln) c.2953G>C (p.Glu985Gln) c.2875G>C (p.Glu959Gln) n.2938G>C c.*428G>C (n.*428G>C) n.3281G>C c.*1185G>C (n.*1185G>C) n.3406G>C c.2011G>C (p.Glu671Gln) c.*2475G>C (n.*2475G>C) n.2213G>C c.*2553G>C (n.*2553G>C) c.2860G>C (p.Glu954Gln) n.90G>C n.412G>C c.2818G>C (p.Glu940Gln) c.3082G>C (p.Glu1028Gln) c.3004G>C (p.Glu1002Gln) c.2971G>C (p.Glu991Gln) c.2980G>C (p.Glu994Gln) c.1990G>C (p.Glu664Gln) | |
1 | g.154588191C>T | CA342636063 | ADAR | c.2847G>A (n.2847G>A) c.2983G>A (p.Glu995Lys) c.2836G>A (p.Glu946Lys) c.2605G>A (p.Glu869Lys) c.2068G>A (p.Glu690Lys) c.2953G>A (p.Glu985Lys) c.2875G>A (p.Glu959Lys) n.2938G>A c.*428G>A (n.*428G>A) n.3281G>A c.*1185G>A (n.*1185G>A) n.3406G>A c.2011G>A (p.Glu671Lys) c.*2475G>A (n.*2475G>A) n.2213G>A c.*2553G>A (n.*2553G>A) c.2860G>A (p.Glu954Lys) n.90G>A n.412G>A c.2818G>A (p.Glu940Lys) c.3082G>A (p.Glu1028Lys) c.3004G>A (p.Glu1002Lys) c.2971G>A (p.Glu991Lys) c.2980G>A (p.Glu994Lys) c.1990G>A (p.Glu664Lys) | |
1 | g.154588192T>A | CA421231953 | ADAR | c.2846A>T (n.2846A>T) c.2982A>T (p.Thr994=) c.2835A>T (p.Thr945=) c.2604A>T (p.Thr868=) c.2067A>T (p.Thr689=) c.2952A>T (p.Thr984=) c.2874A>T (p.Thr958=) n.2937A>T c.*427A>T (n.*427A>T) n.3280A>T c.*1184A>T (n.*1184A>T) n.3405A>T c.2010A>T (p.Thr670=) c.*2474A>T (n.*2474A>T) n.2212A>T c.*2552A>T (n.*2552A>T) c.2859A>T (p.Thr953=) n.89A>T n.411A>T c.2817A>T (p.Thr939=) c.3081A>T (p.Thr1027=) c.3003A>T (p.Thr1001=) c.2970A>T (p.Thr990=) c.2979A>T (p.Thr993=) c.1989A>T (p.Thr663=) | |
1 | g.154588192T>C | CA1131097 | ADAR | c.2846A>G (n.2846A>G) c.2982A>G (p.Thr994=) c.2835A>G (p.Thr945=) c.2604A>G (p.Thr868=) c.2067A>G (p.Thr689=) c.2952A>G (p.Thr984=) c.2874A>G (p.Thr958=) n.2937A>G c.*427A>G (n.*427A>G) n.3280A>G c.*1184A>G (n.*1184A>G) n.3405A>G c.2010A>G (p.Thr670=) c.*2474A>G (n.*2474A>G) n.2212A>G c.*2552A>G (n.*2552A>G) c.2859A>G (p.Thr953=) n.89A>G n.411A>G c.2817A>G (p.Thr939=) c.3081A>G (p.Thr1027=) c.3003A>G (p.Thr1001=) c.2970A>G (p.Thr990=) c.2979A>G (p.Thr993=) c.1989A>G (p.Thr663=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154588192T>G | CA421231954 | ADAR | c.2846A>C (n.2846A>C) c.2982A>C (p.Thr994=) c.2835A>C (p.Thr945=) c.2604A>C (p.Thr868=) c.2067A>C (p.Thr689=) c.2952A>C (p.Thr984=) c.2874A>C (p.Thr958=) n.2937A>C c.*427A>C (n.*427A>C) n.3280A>C c.*1184A>C (n.*1184A>C) n.3405A>C c.2010A>C (p.Thr670=) c.*2474A>C (n.*2474A>C) n.2212A>C c.*2552A>C (n.*2552A>C) c.2859A>C (p.Thr953=) n.89A>C n.411A>C c.2817A>C (p.Thr939=) c.3081A>C (p.Thr1027=) c.3003A>C (p.Thr1001=) c.2970A>C (p.Thr990=) c.2979A>C (p.Thr993=) c.1989A>C (p.Thr663=) | |
1 | g.154588192T= | CA2480932526 | ADAR | c.2846A= (n.2846A=) c.2982A= (p.Thr994=) c.2835A= (p.Thr945=) c.2604A= (p.Thr868=) c.2067A= (p.Thr689=) c.2952A= (p.Thr984=) c.2874A= (p.Thr958=) n.2937A= c.*427A= (n.*427A=) n.3280A= c.*1184A= (n.*1184A=) n.3405A= c.2010A= (p.Thr670=) c.*2474A= (n.*2474A=) n.2212A= c.*2552A= (n.*2552A=) c.2859A= (p.Thr953=) n.89A= n.411A= c.2817A= (p.Thr939=) c.3081A= (p.Thr1027=) c.3003A= (p.Thr1001=) c.2970A= (p.Thr990=) c.2979A= (p.Thr993=) c.1989A= (p.Thr663=) | |
1 | g.154588193G>A | CA342636065 | ADAR | c.2845C>T (n.2845C>T) c.2981C>T (p.Thr994Ile) c.2834C>T (p.Thr945Ile) c.2603C>T (p.Thr868Ile) c.2066C>T (p.Thr689Ile) c.2951C>T (p.Thr984Ile) c.2873C>T (p.Thr958Ile) n.2936C>T c.*426C>T (n.*426C>T) n.3279C>T c.*1183C>T (n.*1183C>T) n.3404C>T c.2009C>T (p.Thr670Ile) c.*2473C>T (n.*2473C>T) n.2211C>T c.*2551C>T (n.*2551C>T) c.2858C>T (p.Thr953Ile) n.88C>T n.410C>T c.2816C>T (p.Thr939Ile) c.3080C>T (p.Thr1027Ile) c.3002C>T (p.Thr1001Ile) c.2969C>T (p.Thr990Ile) c.2978C>T (p.Thr993Ile) c.1988C>T (p.Thr663Ile) | dbSNP gnomAD v4 |
1 | g.154588193G>C | CA342636066 | ADAR | c.2845C>G (n.2845C>G) c.2981C>G (p.Thr994Arg) c.2834C>G (p.Thr945Arg) c.2603C>G (p.Thr868Arg) c.2066C>G (p.Thr689Arg) c.2951C>G (p.Thr984Arg) c.2873C>G (p.Thr958Arg) n.2936C>G c.*426C>G (n.*426C>G) n.3279C>G c.*1183C>G (n.*1183C>G) n.3404C>G c.2009C>G (p.Thr670Arg) c.*2473C>G (n.*2473C>G) n.2211C>G c.*2551C>G (n.*2551C>G) c.2858C>G (p.Thr953Arg) n.88C>G n.410C>G c.2816C>G (p.Thr939Arg) c.3080C>G (p.Thr1027Arg) c.3002C>G (p.Thr1001Arg) c.2969C>G (p.Thr990Arg) c.2978C>G (p.Thr993Arg) c.1988C>G (p.Thr663Arg) | ClinVar |
1 | g.154588193G= | CA2480932527 | ADAR | c.2845C= (n.2845C=) c.2981C= (p.Thr994=) c.2834C= (p.Thr945=) c.2603C= (p.Thr868=) c.2066C= (p.Thr689=) c.2951C= (p.Thr984=) c.2873C= (p.Thr958=) n.2936C= c.*426C= (n.*426C=) n.3279C= c.*1183C= (n.*1183C=) n.3404C= c.2009C= (p.Thr670=) c.*2473C= (n.*2473C=) n.2211C= c.*2551C= (n.*2551C=) c.2858C= (p.Thr953=) n.88C= n.410C= c.2816C= (p.Thr939=) c.3080C= (p.Thr1027=) c.3002C= (p.Thr1001=) c.2969C= (p.Thr990=) c.2978C= (p.Thr993=) c.1988C= (p.Thr663=) | |
1 | g.154588193G>T | CA342636064 | ADAR | c.2845C>A (n.2845C>A) c.2981C>A (p.Thr994Lys) c.2834C>A (p.Thr945Lys) c.2603C>A (p.Thr868Lys) c.2066C>A (p.Thr689Lys) c.2951C>A (p.Thr984Lys) c.2873C>A (p.Thr958Lys) n.2936C>A c.*426C>A (n.*426C>A) n.3279C>A c.*1183C>A (n.*1183C>A) n.3404C>A c.2009C>A (p.Thr670Lys) c.*2473C>A (n.*2473C>A) n.2211C>A c.*2551C>A (n.*2551C>A) c.2858C>A (p.Thr953Lys) n.88C>A n.410C>A c.2816C>A (p.Thr939Lys) c.3080C>A (p.Thr1027Lys) c.3002C>A (p.Thr1001Lys) c.2969C>A (p.Thr990Lys) c.2978C>A (p.Thr993Lys) c.1988C>A (p.Thr663Lys) | |
1 | g.154588194T>A | CA342636067 | ADAR | c.2844A>T (n.2844A>T) c.2980A>T (p.Thr994Ser) c.2833A>T (p.Thr945Ser) c.2602A>T (p.Thr868Ser) c.2065A>T (p.Thr689Ser) c.2950A>T (p.Thr984Ser) c.2872A>T (p.Thr958Ser) n.2935A>T c.*425A>T (n.*425A>T) n.3278A>T c.*1182A>T (n.*1182A>T) n.3403A>T c.2008A>T (p.Thr670Ser) c.*2472A>T (n.*2472A>T) n.2210A>T c.*2550A>T (n.*2550A>T) c.2857A>T (p.Thr953Ser) n.87A>T n.409A>T c.2815A>T (p.Thr939Ser) c.3079A>T (p.Thr1027Ser) c.3001A>T (p.Thr1001Ser) c.2968A>T (p.Thr990Ser) c.2977A>T (p.Thr993Ser) c.1987A>T (p.Thr663Ser) | |
1 | g.154588194T>C | CA342636068 | ADAR | c.2844A>G (n.2844A>G) c.2980A>G (p.Thr994Ala) c.2833A>G (p.Thr945Ala) c.2602A>G (p.Thr868Ala) c.2065A>G (p.Thr689Ala) c.2950A>G (p.Thr984Ala) c.2872A>G (p.Thr958Ala) n.2935A>G c.*425A>G (n.*425A>G) n.3278A>G c.*1182A>G (n.*1182A>G) n.3403A>G c.2008A>G (p.Thr670Ala) c.*2472A>G (n.*2472A>G) n.2210A>G c.*2550A>G (n.*2550A>G) c.2857A>G (p.Thr953Ala) n.87A>G n.409A>G c.2815A>G (p.Thr939Ala) c.3079A>G (p.Thr1027Ala) c.3001A>G (p.Thr1001Ala) c.2968A>G (p.Thr990Ala) c.2977A>G (p.Thr993Ala) c.1987A>G (p.Thr663Ala) | gnomAD v4 |
1 | g.154588194T>G | CA342636069 | ADAR | c.2844A>C (n.2844A>C) c.2980A>C (p.Thr994Pro) c.2833A>C (p.Thr945Pro) c.2602A>C (p.Thr868Pro) c.2065A>C (p.Thr689Pro) c.2950A>C (p.Thr984Pro) c.2872A>C (p.Thr958Pro) n.2935A>C c.*425A>C (n.*425A>C) n.3278A>C c.*1182A>C (n.*1182A>C) n.3403A>C c.2008A>C (p.Thr670Pro) c.*2472A>C (n.*2472A>C) n.2210A>C c.*2550A>C (n.*2550A>C) c.2857A>C (p.Thr953Pro) n.87A>C n.409A>C c.2815A>C (p.Thr939Pro) c.3079A>C (p.Thr1027Pro) c.3001A>C (p.Thr1001Pro) c.2968A>C (p.Thr990Pro) c.2977A>C (p.Thr993Pro) c.1987A>C (p.Thr663Pro) | |
1 | g.154588195G>A | CA421231955 | ADAR | c.2843C>T (n.2843C>T) c.2979C>T (p.Ser993=) c.2832C>T (p.Ser944=) c.2601C>T (p.Ser867=) c.2064C>T (p.Ser688=) c.2949C>T (p.Ser983=) c.2871C>T (p.Ser957=) n.2934C>T c.*424C>T (n.*424C>T) n.3277C>T c.*1181C>T (n.*1181C>T) n.3402C>T c.2007C>T (p.Ser669=) c.*2471C>T (n.*2471C>T) n.2209C>T c.*2549C>T (n.*2549C>T) c.2856C>T (p.Ser952=) n.86C>T n.408C>T c.2814C>T (p.Ser938=) c.3078C>T (p.Ser1026=) c.3000C>T (p.Ser1000=) c.2967C>T (p.Ser989=) c.2976C>T (p.Ser992=) c.1986C>T (p.Ser662=) | |
1 | g.154588195G>C | CA342636070 | ADAR | c.2843C>G (n.2843C>G) c.2979C>G (p.Ser993Arg) c.2832C>G (p.Ser944Arg) c.2601C>G (p.Ser867Arg) c.2064C>G (p.Ser688Arg) c.2949C>G (p.Ser983Arg) c.2871C>G (p.Ser957Arg) n.2934C>G c.*424C>G (n.*424C>G) n.3277C>G c.*1181C>G (n.*1181C>G) n.3402C>G c.2007C>G (p.Ser669Arg) c.*2471C>G (n.*2471C>G) n.2209C>G c.*2549C>G (n.*2549C>G) c.2856C>G (p.Ser952Arg) n.86C>G n.408C>G c.2814C>G (p.Ser938Arg) c.3078C>G (p.Ser1026Arg) c.3000C>G (p.Ser1000Arg) c.2967C>G (p.Ser989Arg) c.2976C>G (p.Ser992Arg) c.1986C>G (p.Ser662Arg) | |
1 | g.154588195G>T | CA342636071 | ADAR | c.2843C>A (n.2843C>A) c.2979C>A (p.Ser993Arg) c.2832C>A (p.Ser944Arg) c.2601C>A (p.Ser867Arg) c.2064C>A (p.Ser688Arg) c.2949C>A (p.Ser983Arg) c.2871C>A (p.Ser957Arg) n.2934C>A c.*424C>A (n.*424C>A) n.3277C>A c.*1181C>A (n.*1181C>A) n.3402C>A c.2007C>A (p.Ser669Arg) c.*2471C>A (n.*2471C>A) n.2209C>A c.*2549C>A (n.*2549C>A) c.2856C>A (p.Ser952Arg) n.86C>A n.408C>A c.2814C>A (p.Ser938Arg) c.3078C>A (p.Ser1026Arg) c.3000C>A (p.Ser1000Arg) c.2967C>A (p.Ser989Arg) c.2976C>A (p.Ser992Arg) c.1986C>A (p.Ser662Arg) | |
1 | g.154588196C>A | CA342636074 | ADAR | c.2842G>T (n.2842G>T) c.2978G>T (p.Ser993Ile) c.2831G>T (p.Ser944Ile) c.2600G>T (p.Ser867Ile) c.2063G>T (p.Ser688Ile) c.2948G>T (p.Ser983Ile) c.2870G>T (p.Ser957Ile) n.2933G>T c.*423G>T (n.*423G>T) n.3276G>T c.*1180G>T (n.*1180G>T) n.3401G>T c.2006G>T (p.Ser669Ile) c.*2470G>T (n.*2470G>T) n.2208G>T c.*2548G>T (n.*2548G>T) c.2855G>T (p.Ser952Ile) n.85G>T n.407G>T c.2813G>T (p.Ser938Ile) c.3077G>T (p.Ser1026Ile) c.2999G>T (p.Ser1000Ile) c.2966G>T (p.Ser989Ile) c.2975G>T (p.Ser992Ile) c.1985G>T (p.Ser662Ile) | |
1 | g.154588196C>G | CA342636072 | ADAR | c.2842G>C (n.2842G>C) c.2978G>C (p.Ser993Thr) c.2831G>C (p.Ser944Thr) c.2600G>C (p.Ser867Thr) c.2063G>C (p.Ser688Thr) c.2948G>C (p.Ser983Thr) c.2870G>C (p.Ser957Thr) n.2933G>C c.*423G>C (n.*423G>C) n.3276G>C c.*1180G>C (n.*1180G>C) n.3401G>C c.2006G>C (p.Ser669Thr) c.*2470G>C (n.*2470G>C) n.2208G>C c.*2548G>C (n.*2548G>C) c.2855G>C (p.Ser952Thr) n.85G>C n.407G>C c.2813G>C (p.Ser938Thr) c.3077G>C (p.Ser1026Thr) c.2999G>C (p.Ser1000Thr) c.2966G>C (p.Ser989Thr) c.2975G>C (p.Ser992Thr) c.1985G>C (p.Ser662Thr) | |
1 | g.154588196C>T | CA342636073 | ADAR | c.2842G>A (n.2842G>A) c.2978G>A (p.Ser993Asn) c.2831G>A (p.Ser944Asn) c.2600G>A (p.Ser867Asn) c.2063G>A (p.Ser688Asn) c.2948G>A (p.Ser983Asn) c.2870G>A (p.Ser957Asn) n.2933G>A c.*423G>A (n.*423G>A) n.3276G>A c.*1180G>A (n.*1180G>A) n.3401G>A c.2006G>A (p.Ser669Asn) c.*2470G>A (n.*2470G>A) n.2208G>A c.*2548G>A (n.*2548G>A) c.2855G>A (p.Ser952Asn) n.85G>A n.407G>A c.2813G>A (p.Ser938Asn) c.3077G>A (p.Ser1026Asn) c.2999G>A (p.Ser1000Asn) c.2966G>A (p.Ser989Asn) c.2975G>A (p.Ser992Asn) c.1985G>A (p.Ser662Asn) | |
1 | g.154588197T>A | CA342636075 | ADAR | c.2841A>T (n.2841A>T) c.2977A>T (p.Ser993Cys) c.2830A>T (p.Ser944Cys) c.2599A>T (p.Ser867Cys) c.2062A>T (p.Ser688Cys) c.2947A>T (p.Ser983Cys) c.2869A>T (p.Ser957Cys) n.2932A>T c.*422A>T (n.*422A>T) n.3275A>T c.*1179A>T (n.*1179A>T) n.3400A>T c.2005A>T (p.Ser669Cys) c.*2469A>T (n.*2469A>T) n.2207A>T c.*2547A>T (n.*2547A>T) c.2854A>T (p.Ser952Cys) n.84A>T n.406A>T c.2812A>T (p.Ser938Cys) c.3076A>T (p.Ser1026Cys) c.2998A>T (p.Ser1000Cys) c.2965A>T (p.Ser989Cys) c.2974A>T (p.Ser992Cys) c.1984A>T (p.Ser662Cys) | |
1 | g.154588197T>C | CA342636076 | ADAR | c.2841A>G (n.2841A>G) c.2977A>G (p.Ser993Gly) c.2830A>G (p.Ser944Gly) c.2599A>G (p.Ser867Gly) c.2062A>G (p.Ser688Gly) c.2947A>G (p.Ser983Gly) c.2869A>G (p.Ser957Gly) n.2932A>G c.*422A>G (n.*422A>G) n.3275A>G c.*1179A>G (n.*1179A>G) n.3400A>G c.2005A>G (p.Ser669Gly) c.*2469A>G (n.*2469A>G) n.2207A>G c.*2547A>G (n.*2547A>G) c.2854A>G (p.Ser952Gly) n.84A>G n.406A>G c.2812A>G (p.Ser938Gly) c.3076A>G (p.Ser1026Gly) c.2998A>G (p.Ser1000Gly) c.2965A>G (p.Ser989Gly) c.2974A>G (p.Ser992Gly) c.1984A>G (p.Ser662Gly) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.154588197T>G | CA342636077 | ADAR | c.2841A>C (n.2841A>C) c.2977A>C (p.Ser993Arg) c.2830A>C (p.Ser944Arg) c.2599A>C (p.Ser867Arg) c.2062A>C (p.Ser688Arg) c.2947A>C (p.Ser983Arg) c.2869A>C (p.Ser957Arg) n.2932A>C c.*422A>C (n.*422A>C) n.3275A>C c.*1179A>C (n.*1179A>C) n.3400A>C c.2005A>C (p.Ser669Arg) c.*2469A>C (n.*2469A>C) n.2207A>C c.*2547A>C (n.*2547A>C) c.2854A>C (p.Ser952Arg) n.84A>C n.406A>C c.2812A>C (p.Ser938Arg) c.3076A>C (p.Ser1026Arg) c.2998A>C (p.Ser1000Arg) c.2965A>C (p.Ser989Arg) c.2974A>C (p.Ser992Arg) c.1984A>C (p.Ser662Arg) | |
1 | g.154588197T= | CA2480932528 | ADAR | c.2841A= (n.2841A=) c.2977A= (p.Ser993=) c.2830A= (p.Ser944=) c.2599A= (p.Ser867=) c.2062A= (p.Ser688=) c.2947A= (p.Ser983=) c.2869A= (p.Ser957=) n.2932A= c.*422A= (n.*422A=) n.3275A= c.*1179A= (n.*1179A=) n.3400A= c.2005A= (p.Ser669=) c.*2469A= (n.*2469A=) n.2207A= c.*2547A= (n.*2547A=) c.2854A= (p.Ser952=) n.84A= n.406A= c.2812A= (p.Ser938=) c.3076A= (p.Ser1026=) c.2998A= (p.Ser1000=) c.2965A= (p.Ser989=) c.2974A= (p.Ser992=) c.1984A= (p.Ser662=) | |
1 | g.154588198T>A | CA342636078 | ADAR | c.2840A>T (n.2840A>T) c.2976A>T (p.Glu992Asp) c.2829A>T (p.Glu943Asp) c.2598A>T (p.Glu866Asp) c.2061A>T (p.Glu687Asp) c.2946A>T (p.Glu982Asp) c.2868A>T (p.Glu956Asp) n.2931A>T c.*421A>T (n.*421A>T) n.3274A>T c.*1178A>T (n.*1178A>T) n.3399A>T c.2004A>T (p.Glu668Asp) c.*2468A>T (n.*2468A>T) n.2206A>T c.*2546A>T (n.*2546A>T) c.2853A>T (p.Glu951Asp) n.83A>T n.405A>T c.2811A>T (p.Glu937Asp) c.3075A>T (p.Glu1025Asp) c.2997A>T (p.Glu999Asp) c.2964A>T (p.Glu988Asp) c.2973A>T (p.Glu991Asp) c.1983A>T (p.Glu661Asp) | |
1 | g.154588198T>C | CA421231956 | ADAR | c.2840A>G (n.2840A>G) c.2976A>G (p.Glu992=) c.2829A>G (p.Glu943=) c.2598A>G (p.Glu866=) c.2061A>G (p.Glu687=) c.2946A>G (p.Glu982=) c.2868A>G (p.Glu956=) n.2931A>G c.*421A>G (n.*421A>G) n.3274A>G c.*1178A>G (n.*1178A>G) n.3399A>G c.2004A>G (p.Glu668=) c.*2468A>G (n.*2468A>G) n.2206A>G c.*2546A>G (n.*2546A>G) c.2853A>G (p.Glu951=) n.83A>G n.405A>G c.2811A>G (p.Glu937=) c.3075A>G (p.Glu1025=) c.2997A>G (p.Glu999=) c.2964A>G (p.Glu988=) c.2973A>G (p.Glu991=) c.1983A>G (p.Glu661=) | gnomAD v4 |
1 | g.154588198T>G | CA342636079 | ADAR | c.2840A>C (n.2840A>C) c.2976A>C (p.Glu992Asp) c.2829A>C (p.Glu943Asp) c.2598A>C (p.Glu866Asp) c.2061A>C (p.Glu687Asp) c.2946A>C (p.Glu982Asp) c.2868A>C (p.Glu956Asp) n.2931A>C c.*421A>C (n.*421A>C) n.3274A>C c.*1178A>C (n.*1178A>C) n.3399A>C c.2004A>C (p.Glu668Asp) c.*2468A>C (n.*2468A>C) n.2206A>C c.*2546A>C (n.*2546A>C) c.2853A>C (p.Glu951Asp) n.83A>C n.405A>C c.2811A>C (p.Glu937Asp) c.3075A>C (p.Glu1025Asp) c.2997A>C (p.Glu999Asp) c.2964A>C (p.Glu988Asp) c.2973A>C (p.Glu991Asp) c.1983A>C (p.Glu661Asp) | |
1 | g.154588199T>A | CA342636081 | ADAR | c.2839A>T (n.2839A>T) c.2975A>T (p.Glu992Val) c.2828A>T (p.Glu943Val) c.2597A>T (p.Glu866Val) c.2060A>T (p.Glu687Val) c.2945A>T (p.Glu982Val) c.2867A>T (p.Glu956Val) n.2930A>T c.*420A>T (n.*420A>T) n.3273A>T c.*1177A>T (n.*1177A>T) n.3398A>T c.2003A>T (p.Glu668Val) c.*2467A>T (n.*2467A>T) n.2205A>T c.*2545A>T (n.*2545A>T) c.2852A>T (p.Glu951Val) n.82A>T n.404A>T c.2810A>T (p.Glu937Val) c.3074A>T (p.Glu1025Val) c.2996A>T (p.Glu999Val) c.2963A>T (p.Glu988Val) c.2972A>T (p.Glu991Val) c.1982A>T (p.Glu661Val) | |
1 | g.154588199T>C | CA342636080 | ADAR | c.2839A>G (n.2839A>G) c.2975A>G (p.Glu992Gly) c.2828A>G (p.Glu943Gly) c.2597A>G (p.Glu866Gly) c.2060A>G (p.Glu687Gly) c.2945A>G (p.Glu982Gly) c.2867A>G (p.Glu956Gly) n.2930A>G c.*420A>G (n.*420A>G) n.3273A>G c.*1177A>G (n.*1177A>G) n.3398A>G c.2003A>G (p.Glu668Gly) c.*2467A>G (n.*2467A>G) n.2205A>G c.*2545A>G (n.*2545A>G) c.2852A>G (p.Glu951Gly) n.82A>G n.404A>G c.2810A>G (p.Glu937Gly) c.3074A>G (p.Glu1025Gly) c.2996A>G (p.Glu999Gly) c.2963A>G (p.Glu988Gly) c.2972A>G (p.Glu991Gly) c.1982A>G (p.Glu661Gly) | |
1 | g.154588199T>G | CA30851421 | ADAR | c.2839A>C (n.2839A>C) c.2975A>C (p.Glu992Ala) c.2828A>C (p.Glu943Ala) c.2597A>C (p.Glu866Ala) c.2060A>C (p.Glu687Ala) c.2945A>C (p.Glu982Ala) c.2867A>C (p.Glu956Ala) n.2930A>C c.*420A>C (n.*420A>C) n.3273A>C c.*1177A>C (n.*1177A>C) n.3398A>C c.2003A>C (p.Glu668Ala) c.*2467A>C (n.*2467A>C) n.2205A>C c.*2545A>C (n.*2545A>C) c.2852A>C (p.Glu951Ala) n.82A>C n.404A>C c.2810A>C (p.Glu937Ala) c.3074A>C (p.Glu1025Ala) c.2996A>C (p.Glu999Ala) c.2963A>C (p.Glu988Ala) c.2972A>C (p.Glu991Ala) c.1982A>C (p.Glu661Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.154588199T= | CA2480932529 | ADAR | c.2839A= (n.2839A=) c.2975A= (p.Glu992=) c.2828A= (p.Glu943=) c.2597A= (p.Glu866=) c.2060A= (p.Glu687=) c.2945A= (p.Glu982=) c.2867A= (p.Glu956=) n.2930A= c.*420A= (n.*420A=) n.3273A= c.*1177A= (n.*1177A=) n.3398A= c.2003A= (p.Glu668=) c.*2467A= (n.*2467A=) n.2205A= c.*2545A= (n.*2545A=) c.2852A= (p.Glu951=) n.82A= n.404A= c.2810A= (p.Glu937=) c.3074A= (p.Glu1025=) c.2996A= (p.Glu999=) c.2963A= (p.Glu988=) c.2972A= (p.Glu991=) c.1982A= (p.Glu661=) | |
1 | g.154588200C>A | CA342636082 | ADAR | c.2838G>T (n.2838G>T) c.2974G>T (p.Glu992Ter) c.2827G>T (p.Glu943Ter) c.2596G>T (p.Glu866Ter) c.2059G>T (p.Glu687Ter) c.2944G>T (p.Glu982Ter) c.2866G>T (p.Glu956Ter) n.2929G>T c.*419G>T (n.*419G>T) n.3272G>T c.*1176G>T (n.*1176G>T) n.3397G>T c.2002G>T (p.Glu668Ter) c.*2466G>T (n.*2466G>T) n.2204G>T c.*2544G>T (n.*2544G>T) c.2851G>T (p.Glu951Ter) n.81G>T n.403G>T c.2809G>T (p.Glu937Ter) c.3073G>T (p.Glu1025Ter) c.2995G>T (p.Glu999Ter) c.2962G>T (p.Glu988Ter) c.2971G>T (p.Glu991Ter) c.1981G>T (p.Glu661Ter) | |
1 | g.154588200C>G | CA342636084 | ADAR | c.2838G>C (n.2838G>C) c.2974G>C (p.Glu992Gln) c.2827G>C (p.Glu943Gln) c.2596G>C (p.Glu866Gln) c.2059G>C (p.Glu687Gln) c.2944G>C (p.Glu982Gln) c.2866G>C (p.Glu956Gln) n.2929G>C c.*419G>C (n.*419G>C) n.3272G>C c.*1176G>C (n.*1176G>C) n.3397G>C c.2002G>C (p.Glu668Gln) c.*2466G>C (n.*2466G>C) n.2204G>C c.*2544G>C (n.*2544G>C) c.2851G>C (p.Glu951Gln) n.81G>C n.403G>C c.2809G>C (p.Glu937Gln) c.3073G>C (p.Glu1025Gln) c.2995G>C (p.Glu999Gln) c.2962G>C (p.Glu988Gln) c.2971G>C (p.Glu991Gln) c.1981G>C (p.Glu661Gln) | |
1 | g.154588200C>T | CA342636083 | ADAR | c.2838G>A (n.2838G>A) c.2974G>A (p.Glu992Lys) c.2827G>A (p.Glu943Lys) c.2596G>A (p.Glu866Lys) c.2059G>A (p.Glu687Lys) c.2944G>A (p.Glu982Lys) c.2866G>A (p.Glu956Lys) n.2929G>A c.*419G>A (n.*419G>A) n.3272G>A c.*1176G>A (n.*1176G>A) n.3397G>A c.2002G>A (p.Glu668Lys) c.*2466G>A (n.*2466G>A) n.2204G>A c.*2544G>A (n.*2544G>A) c.2851G>A (p.Glu951Lys) n.81G>A n.403G>A c.2809G>A (p.Glu937Lys) c.3073G>A (p.Glu1025Lys) c.2995G>A (p.Glu999Lys) c.2962G>A (p.Glu988Lys) c.2971G>A (p.Glu991Lys) c.1981G>A (p.Glu661Lys) | |
1 | g.154588201C>A | CA342636085 | ADAR | c.2837G>T (n.2837G>T) c.2973G>T (p.Met991Ile) c.2826G>T (p.Met942Ile) c.2595G>T (p.Met865Ile) c.2058G>T (p.Met686Ile) c.2943G>T (p.Met981Ile) c.2865G>T (p.Met955Ile) n.2928G>T c.*418G>T (n.*418G>T) n.3271G>T c.*1175G>T (n.*1175G>T) n.3396G>T c.2001G>T (p.Met667Ile) c.*2465G>T (n.*2465G>T) n.2203G>T c.*2543G>T (n.*2543G>T) c.2850G>T (p.Met950Ile) n.80G>T n.402G>T c.2808G>T (p.Met936Ile) c.3072G>T (p.Met1024Ile) c.2994G>T (p.Met998Ile) c.2961G>T (p.Met987Ile) c.2970G>T (p.Met990Ile) c.1980G>T (p.Met660Ile) | |
1 | g.154588201C>G | CA342636086 | ADAR | c.2837G>C (n.2837G>C) c.2973G>C (p.Met991Ile) c.2826G>C (p.Met942Ile) c.2595G>C (p.Met865Ile) c.2058G>C (p.Met686Ile) c.2943G>C (p.Met981Ile) c.2865G>C (p.Met955Ile) n.2928G>C c.*418G>C (n.*418G>C) n.3271G>C c.*1175G>C (n.*1175G>C) n.3396G>C c.2001G>C (p.Met667Ile) c.*2465G>C (n.*2465G>C) n.2203G>C c.*2543G>C (n.*2543G>C) c.2850G>C (p.Met950Ile) n.80G>C n.402G>C c.2808G>C (p.Met936Ile) c.3072G>C (p.Met1024Ile) c.2994G>C (p.Met998Ile) c.2961G>C (p.Met987Ile) c.2970G>C (p.Met990Ile) c.1980G>C (p.Met660Ile) | gnomAD v4 |
1 | g.154588201C>T | CA342636087 | ADAR | c.2837G>A (n.2837G>A) c.2973G>A (p.Met991Ile) c.2826G>A (p.Met942Ile) c.2595G>A (p.Met865Ile) c.2058G>A (p.Met686Ile) c.2943G>A (p.Met981Ile) c.2865G>A (p.Met955Ile) n.2928G>A c.*418G>A (n.*418G>A) n.3271G>A c.*1175G>A (n.*1175G>A) n.3396G>A c.2001G>A (p.Met667Ile) c.*2465G>A (n.*2465G>A) n.2203G>A c.*2543G>A (n.*2543G>A) c.2850G>A (p.Met950Ile) n.80G>A n.402G>A c.2808G>A (p.Met936Ile) c.3072G>A (p.Met1024Ile) c.2994G>A (p.Met998Ile) c.2961G>A (p.Met987Ile) c.2970G>A (p.Met990Ile) c.1980G>A (p.Met660Ile) | |
1 | g.154588203_154588207del | CA645528215 | ADAR | c.2833_2837del (n.2833_2837del) c.2969_2973del (p.Ala990GlyfsTer?) c.2822_2826del (p.Ala941GlyfsTer?) c.2591_2595del (p.Ala864GlyfsTer?) c.2054_2058del (p.Ala685GlyfsTer?) c.2939_2943del (p.Ala980GlyfsTer?) c.2861_2865del (p.Ala954GlyfsTer?) n.2924_2928del c.*414_*418del (n.*414_*418del) n.3267_3271del c.*1171_*1175del (n.*1171_*1175del) n.3392_3396del c.1997_2001del (p.Ala666GlyfsTer?) c.*2461_*2465del (n.*2461_*2465del) n.2199_2203del c.*2539_*2543del (n.*2539_*2543del) c.2846_2850del (p.Ala949GlyfsTer?) n.76_80del n.398_402del c.2804_2808del (p.Ala935GlyfsTer?) c.3068_3072del (p.Ala1023GlyfsTer?) c.2990_2994del (p.Ala997GlyfsTer?) c.2957_2961del (p.Ala986GlyfsTer?) c.2966_2970del (p.Ala989GlyfsTer?) c.1976_1980del (p.Ala659GlyfsTer?) | COSMIC COSMIC |
1 | g.154588202A= | CA2480932530 | ADAR | c.2836T= (n.2836T=) c.2972T= (p.Met991=) c.2825T= (p.Met942=) c.2594T= (p.Met865=) c.2057T= (p.Met686=) c.2942T= (p.Met981=) c.2864T= (p.Met955=) n.2927T= c.*417T= (n.*417T=) n.3270T= c.*1174T= (n.*1174T=) n.3395T= c.2000T= (p.Met667=) c.*2464T= (n.*2464T=) n.2202T= c.*2542T= (n.*2542T=) c.2849T= (p.Met950=) n.79T= n.401T= c.2807T= (p.Met936=) c.3071T= (p.Met1024=) c.2993T= (p.Met998=) c.2960T= (p.Met987=) c.2969T= (p.Met990=) c.1979T= (p.Met660=) | |
1 | g.154588202A>C | CA342636088 | ADAR | c.2836T>G (n.2836T>G) c.2972T>G (p.Met991Arg) c.2825T>G (p.Met942Arg) c.2594T>G (p.Met865Arg) c.2057T>G (p.Met686Arg) c.2942T>G (p.Met981Arg) c.2864T>G (p.Met955Arg) n.2927T>G c.*417T>G (n.*417T>G) n.3270T>G c.*1174T>G (n.*1174T>G) n.3395T>G c.2000T>G (p.Met667Arg) c.*2464T>G (n.*2464T>G) n.2202T>G c.*2542T>G (n.*2542T>G) c.2849T>G (p.Met950Arg) n.79T>G n.401T>G c.2807T>G (p.Met936Arg) c.3071T>G (p.Met1024Arg) c.2993T>G (p.Met998Arg) c.2960T>G (p.Met987Arg) c.2969T>G (p.Met990Arg) c.1979T>G (p.Met660Arg) | |
1 | g.154588202A>G | CA342636089 | ADAR | c.2836T>C (n.2836T>C) c.2972T>C (p.Met991Thr) c.2825T>C (p.Met942Thr) c.2594T>C (p.Met865Thr) c.2057T>C (p.Met686Thr) c.2942T>C (p.Met981Thr) c.2864T>C (p.Met955Thr) n.2927T>C c.*417T>C (n.*417T>C) n.3270T>C c.*1174T>C (n.*1174T>C) n.3395T>C c.2000T>C (p.Met667Thr) c.*2464T>C (n.*2464T>C) n.2202T>C c.*2542T>C (n.*2542T>C) c.2849T>C (p.Met950Thr) n.79T>C n.401T>C c.2807T>C (p.Met936Thr) c.3071T>C (p.Met1024Thr) c.2993T>C (p.Met998Thr) c.2960T>C (p.Met987Thr) c.2969T>C (p.Met990Thr) c.1979T>C (p.Met660Thr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.154588202A>T | CA342636090 | ADAR | c.2836T>A (n.2836T>A) c.2972T>A (p.Met991Lys) c.2825T>A (p.Met942Lys) c.2594T>A (p.Met865Lys) c.2057T>A (p.Met686Lys) c.2942T>A (p.Met981Lys) c.2864T>A (p.Met955Lys) n.2927T>A c.*417T>A (n.*417T>A) n.3270T>A c.*1174T>A (n.*1174T>A) n.3395T>A c.2000T>A (p.Met667Lys) c.*2464T>A (n.*2464T>A) n.2202T>A c.*2542T>A (n.*2542T>A) c.2849T>A (p.Met950Lys) n.79T>A n.401T>A c.2807T>A (p.Met936Lys) c.3071T>A (p.Met1024Lys) c.2993T>A (p.Met998Lys) c.2960T>A (p.Met987Lys) c.2969T>A (p.Met990Lys) c.1979T>A (p.Met660Lys) | |
1 | g.154588203_154588204dup | CA2586967351 | ADAR | c.2835_2836dup (n.2835_2836dup) c.2971_2972dup (p.Met991IlefsTer?) c.2824_2825dup (p.Met942IlefsTer?) c.2593_2594dup (p.Met865IlefsTer?) c.2056_2057dup (p.Met686IlefsTer?) c.2941_2942dup (p.Met981IlefsTer?) c.2863_2864dup (p.Met955IlefsTer?) n.2926_2927dup c.*416_*417dup (n.*416_*417dup) n.3269_3270dup c.*1173_*1174dup (n.*1173_*1174dup) n.3394_3395dup c.1999_2000dup (p.Met667IlefsTer?) c.*2463_*2464dup (n.*2463_*2464dup) n.2201_2202dup c.*2541_*2542dup (n.*2541_*2542dup) c.2848_2849dup (p.Met950IlefsTer?) n.78_79dup n.400_401dup c.2806_2807dup (p.Met936IlefsTer?) c.3070_3071dup (p.Met1024IlefsTer?) c.2992_2993dup (p.Met998IlefsTer?) c.2959_2960dup (p.Met987IlefsTer?) c.2968_2969dup (p.Met990IlefsTer?) c.1978_1979dup (p.Met660IlefsTer?) | |
1 | g.154588203T>A | CA342636093 | ADAR | c.2835A>T (n.2835A>T) c.2971A>T (p.Met991Leu) c.2824A>T (p.Met942Leu) c.2593A>T (p.Met865Leu) c.2056A>T (p.Met686Leu) c.2941A>T (p.Met981Leu) c.2863A>T (p.Met955Leu) n.2926A>T c.*416A>T (n.*416A>T) n.3269A>T c.*1173A>T (n.*1173A>T) n.3394A>T c.1999A>T (p.Met667Leu) c.*2463A>T (n.*2463A>T) n.2201A>T c.*2541A>T (n.*2541A>T) c.2848A>T (p.Met950Leu) n.78A>T n.400A>T c.2806A>T (p.Met936Leu) c.3070A>T (p.Met1024Leu) c.2992A>T (p.Met998Leu) c.2959A>T (p.Met987Leu) c.2968A>T (p.Met990Leu) c.1978A>T (p.Met660Leu) | |
1 | g.154588203T>C | CA342636092 | ADAR | c.2835A>G (n.2835A>G) c.2971A>G (p.Met991Val) c.2824A>G (p.Met942Val) c.2593A>G (p.Met865Val) c.2056A>G (p.Met686Val) c.2941A>G (p.Met981Val) c.2863A>G (p.Met955Val) n.2926A>G c.*416A>G (n.*416A>G) n.3269A>G c.*1173A>G (n.*1173A>G) n.3394A>G c.1999A>G (p.Met667Val) c.*2463A>G (n.*2463A>G) n.2201A>G c.*2541A>G (n.*2541A>G) c.2848A>G (p.Met950Val) n.78A>G n.400A>G c.2806A>G (p.Met936Val) c.3070A>G (p.Met1024Val) c.2992A>G (p.Met998Val) c.2959A>G (p.Met987Val) c.2968A>G (p.Met990Val) c.1978A>G (p.Met660Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154588203T>G | CA342636091 | ADAR | c.2835A>C (n.2835A>C) c.2971A>C (p.Met991Leu) c.2824A>C (p.Met942Leu) c.2593A>C (p.Met865Leu) c.2056A>C (p.Met686Leu) c.2941A>C (p.Met981Leu) c.2863A>C (p.Met955Leu) n.2926A>C c.*416A>C (n.*416A>C) n.3269A>C c.*1173A>C (n.*1173A>C) n.3394A>C c.1999A>C (p.Met667Leu) c.*2463A>C (n.*2463A>C) n.2201A>C c.*2541A>C (n.*2541A>C) c.2848A>C (p.Met950Leu) n.78A>C n.400A>C c.2806A>C (p.Met936Leu) c.3070A>C (p.Met1024Leu) c.2992A>C (p.Met998Leu) c.2959A>C (p.Met987Leu) c.2968A>C (p.Met990Leu) c.1978A>C (p.Met660Leu) | |
1 | g.154588203T= | CA2480932531 | ADAR | c.2835A= (n.2835A=) c.2971A= (p.Met991=) c.2824A= (p.Met942=) c.2593A= (p.Met865=) c.2056A= (p.Met686=) c.2941A= (p.Met981=) c.2863A= (p.Met955=) n.2926A= c.*416A= (n.*416A=) n.3269A= c.*1173A= (n.*1173A=) n.3394A= c.1999A= (p.Met667=) c.*2463A= (n.*2463A=) n.2201A= c.*2541A= (n.*2541A=) c.2848A= (p.Met950=) n.78A= n.400A= c.2806A= (p.Met936=) c.3070A= (p.Met1024=) c.2992A= (p.Met998=) c.2959A= (p.Met987=) c.2968A= (p.Met990=) c.1978A= (p.Met660=) | |
1 | g.154588204A>C | CA421231957 | ADAR | c.2834T>G (n.2834T>G) c.2970T>G (p.Ala990=) c.2823T>G (p.Ala941=) c.2592T>G (p.Ala864=) c.2055T>G (p.Ala685=) c.2940T>G (p.Ala980=) c.2862T>G (p.Ala954=) n.2925T>G c.*415T>G (n.*415T>G) n.3268T>G c.*1172T>G (n.*1172T>G) n.3393T>G c.1998T>G (p.Ala666=) c.*2462T>G (n.*2462T>G) n.2200T>G c.*2540T>G (n.*2540T>G) c.2847T>G (p.Ala949=) n.77T>G n.399T>G c.2805T>G (p.Ala935=) c.3069T>G (p.Ala1023=) c.2991T>G (p.Ala997=) c.2958T>G (p.Ala986=) c.2967T>G (p.Ala989=) c.1977T>G (p.Ala659=) | |
1 | g.154588204A>G | CA421231958 | ADAR | c.2834T>C (n.2834T>C) c.2970T>C (p.Ala990=) c.2823T>C (p.Ala941=) c.2592T>C (p.Ala864=) c.2055T>C (p.Ala685=) c.2940T>C (p.Ala980=) c.2862T>C (p.Ala954=) n.2925T>C c.*415T>C (n.*415T>C) n.3268T>C c.*1172T>C (n.*1172T>C) n.3393T>C c.1998T>C (p.Ala666=) c.*2462T>C (n.*2462T>C) n.2200T>C c.*2540T>C (n.*2540T>C) c.2847T>C (p.Ala949=) n.77T>C n.399T>C c.2805T>C (p.Ala935=) c.3069T>C (p.Ala1023=) c.2991T>C (p.Ala997=) c.2958T>C (p.Ala986=) c.2967T>C (p.Ala989=) c.1977T>C (p.Ala659=) | gnomAD v4 |
1 | g.154588204A>T | CA421231959 | ADAR | c.2834T>A (n.2834T>A) c.2970T>A (p.Ala990=) c.2823T>A (p.Ala941=) c.2592T>A (p.Ala864=) c.2055T>A (p.Ala685=) c.2940T>A (p.Ala980=) c.2862T>A (p.Ala954=) n.2925T>A c.*415T>A (n.*415T>A) n.3268T>A c.*1172T>A (n.*1172T>A) n.3393T>A c.1998T>A (p.Ala666=) c.*2462T>A (n.*2462T>A) n.2200T>A c.*2540T>A (n.*2540T>A) c.2847T>A (p.Ala949=) n.77T>A n.399T>A c.2805T>A (p.Ala935=) c.3069T>A (p.Ala1023=) c.2991T>A (p.Ala997=) c.2958T>A (p.Ala986=) c.2967T>A (p.Ala989=) c.1977T>A (p.Ala659=) | |
1 | g.154588205G>A | CA342636094 | ADAR | c.2833C>T (n.2833C>T) c.2969C>T (p.Ala990Val) c.2822C>T (p.Ala941Val) c.2591C>T (p.Ala864Val) c.2054C>T (p.Ala685Val) c.2939C>T (p.Ala980Val) c.2861C>T (p.Ala954Val) n.2924C>T c.*414C>T (n.*414C>T) n.3267C>T c.*1171C>T (n.*1171C>T) n.3392C>T c.1997C>T (p.Ala666Val) c.*2461C>T (n.*2461C>T) n.2199C>T c.*2539C>T (n.*2539C>T) c.2846C>T (p.Ala949Val) n.76C>T n.398C>T c.2804C>T (p.Ala935Val) c.3068C>T (p.Ala1023Val) c.2990C>T (p.Ala997Val) c.2957C>T (p.Ala986Val) c.2966C>T (p.Ala989Val) c.1976C>T (p.Ala659Val) | ClinVar |
1 | g.154588205G>C | CA342636095 | ADAR | c.2833C>G (n.2833C>G) c.2969C>G (p.Ala990Gly) c.2822C>G (p.Ala941Gly) c.2591C>G (p.Ala864Gly) c.2054C>G (p.Ala685Gly) c.2939C>G (p.Ala980Gly) c.2861C>G (p.Ala954Gly) n.2924C>G c.*414C>G (n.*414C>G) n.3267C>G c.*1171C>G (n.*1171C>G) n.3392C>G c.1997C>G (p.Ala666Gly) c.*2461C>G (n.*2461C>G) n.2199C>G c.*2539C>G (n.*2539C>G) c.2846C>G (p.Ala949Gly) n.76C>G n.398C>G c.2804C>G (p.Ala935Gly) c.3068C>G (p.Ala1023Gly) c.2990C>G (p.Ala997Gly) c.2957C>G (p.Ala986Gly) c.2966C>G (p.Ala989Gly) c.1976C>G (p.Ala659Gly) | |
1 | g.154588205G>T | CA342636096 | ADAR | c.2833C>A (n.2833C>A) c.2969C>A (p.Ala990Asp) c.2822C>A (p.Ala941Asp) c.2591C>A (p.Ala864Asp) c.2054C>A (p.Ala685Asp) c.2939C>A (p.Ala980Asp) c.2861C>A (p.Ala954Asp) n.2924C>A c.*414C>A (n.*414C>A) n.3267C>A c.*1171C>A (n.*1171C>A) n.3392C>A c.1997C>A (p.Ala666Asp) c.*2461C>A (n.*2461C>A) n.2199C>A c.*2539C>A (n.*2539C>A) c.2846C>A (p.Ala949Asp) n.76C>A n.398C>A c.2804C>A (p.Ala935Asp) c.3068C>A (p.Ala1023Asp) c.2990C>A (p.Ala997Asp) c.2957C>A (p.Ala986Asp) c.2966C>A (p.Ala989Asp) c.1976C>A (p.Ala659Asp) | |
1 | g.154588208_154588218dup | CA2499214198 | ADAR | c.2823_2833dup (n.2823_2833dup) c.2959_2969dup (p.Met991AlafsTer?) c.2812_2822dup (p.Met942AlafsTer?) c.2581_2591dup (p.Met865AlafsTer?) c.2044_2054dup (p.Met686AlafsTer?) c.2929_2939dup (p.Met981AlafsTer?) c.2851_2861dup (p.Met955AlafsTer?) n.2914_2924dup c.*404_*414dup (n.*404_*414dup) n.3257_3267dup c.*1161_*1171dup (n.*1161_*1171dup) n.3382_3392dup c.1987_1997dup (p.Met667AlafsTer?) c.*2451_*2461dup (n.*2451_*2461dup) n.2189_2199dup c.*2529_*2539dup (n.*2529_*2539dup) c.2836_2846dup (p.Met950AlafsTer?) n.66_76dup n.388_398dup c.2794_2804dup (p.Met936AlafsTer?) c.3058_3068dup (p.Met1024AlafsTer?) c.2980_2990dup (p.Met998AlafsTer?) c.2947_2957dup (p.Met987AlafsTer?) c.2956_2966dup (p.Met990AlafsTer?) c.1966_1976dup (p.Met660AlafsTer?) | ClinVar dbSNP |
1 | g.154588206C>A | CA342636097 | ADAR | c.2832G>T (n.2832G>T) c.2968G>T (p.Ala990Ser) c.2821G>T (p.Ala941Ser) c.2590G>T (p.Ala864Ser) c.2053G>T (p.Ala685Ser) c.2938G>T (p.Ala980Ser) c.2860G>T (p.Ala954Ser) n.2923G>T c.*413G>T (n.*413G>T) n.3266G>T c.*1170G>T (n.*1170G>T) n.3391G>T c.1996G>T (p.Ala666Ser) c.*2460G>T (n.*2460G>T) n.2198G>T c.*2538G>T (n.*2538G>T) c.2845G>T (p.Ala949Ser) n.75G>T n.397G>T c.2803G>T (p.Ala935Ser) c.3067G>T (p.Ala1023Ser) c.2989G>T (p.Ala997Ser) c.2956G>T (p.Ala986Ser) c.2965G>T (p.Ala989Ser) c.1975G>T (p.Ala659Ser) | |
1 | g.154588206C>G | CA342636098 | ADAR | c.2832G>C (n.2832G>C) c.2968G>C (p.Ala990Pro) c.2821G>C (p.Ala941Pro) c.2590G>C (p.Ala864Pro) c.2053G>C (p.Ala685Pro) c.2938G>C (p.Ala980Pro) c.2860G>C (p.Ala954Pro) n.2923G>C c.*413G>C (n.*413G>C) n.3266G>C c.*1170G>C (n.*1170G>C) n.3391G>C c.1996G>C (p.Ala666Pro) c.*2460G>C (n.*2460G>C) n.2198G>C c.*2538G>C (n.*2538G>C) c.2845G>C (p.Ala949Pro) n.75G>C n.397G>C c.2803G>C (p.Ala935Pro) c.3067G>C (p.Ala1023Pro) c.2989G>C (p.Ala997Pro) c.2956G>C (p.Ala986Pro) c.2965G>C (p.Ala989Pro) c.1975G>C (p.Ala659Pro) | |
1 | g.154588206C>T | CA342636099 | ADAR | c.2832G>A (n.2832G>A) c.2968G>A (p.Ala990Thr) c.2821G>A (p.Ala941Thr) c.2590G>A (p.Ala864Thr) c.2053G>A (p.Ala685Thr) c.2938G>A (p.Ala980Thr) c.2860G>A (p.Ala954Thr) n.2923G>A c.*413G>A (n.*413G>A) n.3266G>A c.*1170G>A (n.*1170G>A) n.3391G>A c.1996G>A (p.Ala666Thr) c.*2460G>A (n.*2460G>A) n.2198G>A c.*2538G>A (n.*2538G>A) c.2845G>A (p.Ala949Thr) n.75G>A n.397G>A c.2803G>A (p.Ala935Thr) c.3067G>A (p.Ala1023Thr) c.2989G>A (p.Ala997Thr) c.2956G>A (p.Ala986Thr) c.2965G>A (p.Ala989Thr) c.1975G>A (p.Ala659Thr) | gnomAD v4 |
1 | g.154588207A>C | CA421231960 | ADAR | c.2831T>G (n.2831T>G) c.2967T>G (p.Arg989=) c.2820T>G (p.Arg940=) c.2589T>G (p.Arg863=) c.2052T>G (p.Arg684=) c.2937T>G (p.Arg979=) c.2859T>G (p.Arg953=) n.2922T>G c.*412T>G (n.*412T>G) n.3265T>G c.*1169T>G (n.*1169T>G) n.3390T>G c.1995T>G (p.Arg665=) c.*2459T>G (n.*2459T>G) n.2197T>G c.*2537T>G (n.*2537T>G) c.2844T>G (p.Arg948=) n.74T>G n.396T>G c.2802T>G (p.Arg934=) c.3066T>G (p.Arg1022=) c.2988T>G (p.Arg996=) c.2955T>G (p.Arg985=) c.2964T>G (p.Arg988=) c.1974T>G (p.Arg658=) | |
1 | g.154588207A>G | CA421231961 | ADAR | c.2831T>C (n.2831T>C) c.2967T>C (p.Arg989=) c.2820T>C (p.Arg940=) c.2589T>C (p.Arg863=) c.2052T>C (p.Arg684=) c.2937T>C (p.Arg979=) c.2859T>C (p.Arg953=) n.2922T>C c.*412T>C (n.*412T>C) n.3265T>C c.*1169T>C (n.*1169T>C) n.3390T>C c.1995T>C (p.Arg665=) c.*2459T>C (n.*2459T>C) n.2197T>C c.*2537T>C (n.*2537T>C) c.2844T>C (p.Arg948=) n.74T>C n.396T>C c.2802T>C (p.Arg934=) c.3066T>C (p.Arg1022=) c.2988T>C (p.Arg996=) c.2955T>C (p.Arg985=) c.2964T>C (p.Arg988=) c.1974T>C (p.Arg658=) | |
1 | g.154588207A>T | CA421231962 | ADAR | c.2831T>A (n.2831T>A) c.2967T>A (p.Arg989=) c.2820T>A (p.Arg940=) c.2589T>A (p.Arg863=) c.2052T>A (p.Arg684=) c.2937T>A (p.Arg979=) c.2859T>A (p.Arg953=) n.2922T>A c.*412T>A (n.*412T>A) n.3265T>A c.*1169T>A (n.*1169T>A) n.3390T>A c.1995T>A (p.Arg665=) c.*2459T>A (n.*2459T>A) n.2197T>A c.*2537T>A (n.*2537T>A) c.2844T>A (p.Arg948=) n.74T>A n.396T>A c.2802T>A (p.Arg934=) c.3066T>A (p.Arg1022=) c.2988T>A (p.Arg996=) c.2955T>A (p.Arg985=) c.2964T>A (p.Arg988=) c.1974T>A (p.Arg658=) | |
1 | g.154588208C>A | CA342636100 | ADAR | c.2830G>T (n.2830G>T) c.2966G>T (p.Arg989Leu) c.2819G>T (p.Arg940Leu) c.2588G>T (p.Arg863Leu) c.2051G>T (p.Arg684Leu) c.2936G>T (p.Arg979Leu) c.2858G>T (p.Arg953Leu) n.2921G>T c.*411G>T (n.*411G>T) n.3264G>T c.*1168G>T (n.*1168G>T) n.3389G>T c.1994G>T (p.Arg665Leu) c.*2458G>T (n.*2458G>T) n.2196G>T c.*2536G>T (n.*2536G>T) c.2843G>T (p.Arg948Leu) n.73G>T n.395G>T c.2801G>T (p.Arg934Leu) c.3065G>T (p.Arg1022Leu) c.2987G>T (p.Arg996Leu) c.2954G>T (p.Arg985Leu) c.2963G>T (p.Arg988Leu) c.1973G>T (p.Arg658Leu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.154588208C= | CA1142139139 | ADAR | c.2830G= (n.2830G=) c.2966G= (p.Arg989=) c.2819G= (p.Arg940=) c.2588G= (p.Arg863=) c.2051G= (p.Arg684=) c.2936G= (p.Arg979=) c.2858G= (p.Arg953=) n.2921G= c.*411G= (n.*411G=) n.3264G= c.*1168G= (n.*1168G=) n.3389G= c.1994G= (p.Arg665=) c.*2458G= (n.*2458G=) n.2196G= c.*2536G= (n.*2536G=) c.2843G= (p.Arg948=) n.73G= n.395G= c.2801G= (p.Arg934=) c.3065G= (p.Arg1022=) c.2987G= (p.Arg996=) c.2954G= (p.Arg985=) c.2963G= (p.Arg988=) c.1973G= (p.Arg658=) | |
1 | g.154588208C>G | CA342636101 | ADAR | c.2830G>C (n.2830G>C) c.2966G>C (p.Arg989Pro) c.2819G>C (p.Arg940Pro) c.2588G>C (p.Arg863Pro) c.2051G>C (p.Arg684Pro) c.2936G>C (p.Arg979Pro) c.2858G>C (p.Arg953Pro) n.2921G>C c.*411G>C (n.*411G>C) n.3264G>C c.*1168G>C (n.*1168G>C) n.3389G>C c.1994G>C (p.Arg665Pro) c.*2458G>C (n.*2458G>C) n.2196G>C c.*2536G>C (n.*2536G>C) c.2843G>C (p.Arg948Pro) n.73G>C n.395G>C c.2801G>C (p.Arg934Pro) c.3065G>C (p.Arg1022Pro) c.2987G>C (p.Arg996Pro) c.2954G>C (p.Arg985Pro) c.2963G>C (p.Arg988Pro) c.1973G>C (p.Arg658Pro) | |
1 | g.154588208C>T | CA1131098 | ADAR | c.2830G>A (n.2830G>A) c.2966G>A (p.Arg989His) c.2819G>A (p.Arg940His) c.2588G>A (p.Arg863His) c.2051G>A (p.Arg684His) c.2936G>A (p.Arg979His) c.2858G>A (p.Arg953His) n.2921G>A c.*411G>A (n.*411G>A) n.3264G>A c.*1168G>A (n.*1168G>A) n.3389G>A c.1994G>A (p.Arg665His) c.*2458G>A (n.*2458G>A) n.2196G>A c.*2536G>A (n.*2536G>A) c.2843G>A (p.Arg948His) n.73G>A n.395G>A c.2801G>A (p.Arg934His) c.3065G>A (p.Arg1022His) c.2987G>A (p.Arg996His) c.2954G>A (p.Arg985His) c.2963G>A (p.Arg988His) c.1973G>A (p.Arg658His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.154588209G>A | CA1131099 | ADAR | c.2829C>T (n.2829C>T) c.2965C>T (p.Arg989Cys) c.2818C>T (p.Arg940Cys) c.2587C>T (p.Arg863Cys) c.2050C>T (p.Arg684Cys) c.2935C>T (p.Arg979Cys) c.2857C>T (p.Arg953Cys) n.2920C>T c.*410C>T (n.*410C>T) n.3263C>T c.*1167C>T (n.*1167C>T) n.3388C>T c.1993C>T (p.Arg665Cys) c.*2457C>T (n.*2457C>T) n.2195C>T c.*2535C>T (n.*2535C>T) c.2842C>T (p.Arg948Cys) n.72C>T n.394C>T c.2800C>T (p.Arg934Cys) c.3064C>T (p.Arg1022Cys) c.2986C>T (p.Arg996Cys) c.2953C>T (p.Arg985Cys) c.2962C>T (p.Arg988Cys) c.1972C>T (p.Arg658Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154588209G>C | CA342636102 | ADAR | c.2829C>G (n.2829C>G) c.2965C>G (p.Arg989Gly) c.2818C>G (p.Arg940Gly) c.2587C>G (p.Arg863Gly) c.2050C>G (p.Arg684Gly) c.2935C>G (p.Arg979Gly) c.2857C>G (p.Arg953Gly) n.2920C>G c.*410C>G (n.*410C>G) n.3263C>G c.*1167C>G (n.*1167C>G) n.3388C>G c.1993C>G (p.Arg665Gly) c.*2457C>G (n.*2457C>G) n.2195C>G c.*2535C>G (n.*2535C>G) c.2842C>G (p.Arg948Gly) n.72C>G n.394C>G c.2800C>G (p.Arg934Gly) c.3064C>G (p.Arg1022Gly) c.2986C>G (p.Arg996Gly) c.2953C>G (p.Arg985Gly) c.2962C>G (p.Arg988Gly) c.1972C>G (p.Arg658Gly) | |
1 | g.154588209G= | CA1143658031 | ADAR | c.2829C= (n.2829C=) c.2965C= (p.Arg989=) c.2818C= (p.Arg940=) c.2587C= (p.Arg863=) c.2050C= (p.Arg684=) c.2935C= (p.Arg979=) c.2857C= (p.Arg953=) n.2920C= c.*410C= (n.*410C=) n.3263C= c.*1167C= (n.*1167C=) n.3388C= c.1993C= (p.Arg665=) c.*2457C= (n.*2457C=) n.2195C= c.*2535C= (n.*2535C=) c.2842C= (p.Arg948=) n.72C= n.394C= c.2800C= (p.Arg934=) c.3064C= (p.Arg1022=) c.2986C= (p.Arg996=) c.2953C= (p.Arg985=) c.2962C= (p.Arg988=) c.1972C= (p.Arg658=) | |
1 | g.154588209G>T | CA342636103 | ADAR | c.2829C>A (n.2829C>A) c.2965C>A (p.Arg989Ser) c.2818C>A (p.Arg940Ser) c.2587C>A (p.Arg863Ser) c.2050C>A (p.Arg684Ser) c.2935C>A (p.Arg979Ser) c.2857C>A (p.Arg953Ser) n.2920C>A c.*410C>A (n.*410C>A) n.3263C>A c.*1167C>A (n.*1167C>A) n.3388C>A c.1993C>A (p.Arg665Ser) c.*2457C>A (n.*2457C>A) n.2195C>A c.*2535C>A (n.*2535C>A) c.2842C>A (p.Arg948Ser) n.72C>A n.394C>A c.2800C>A (p.Arg934Ser) c.3064C>A (p.Arg1022Ser) c.2986C>A (p.Arg996Ser) c.2953C>A (p.Arg985Ser) c.2962C>A (p.Arg988Ser) c.1972C>A (p.Arg658Ser) | |
1 | g.154588210G>A | CA421231963 | ADAR | c.2828C>T (n.2828C>T) c.2964C>T (p.Asp988=) c.2817C>T (p.Asp939=) c.2586C>T (p.Asp862=) c.2049C>T (p.Asp683=) c.2934C>T (p.Asp978=) c.2856C>T (p.Asp952=) n.2919C>T c.*409C>T (n.*409C>T) n.3262C>T c.*1166C>T (n.*1166C>T) n.3387C>T c.1992C>T (p.Asp664=) c.*2456C>T (n.*2456C>T) n.2194C>T c.*2534C>T (n.*2534C>T) c.2841C>T (p.Asp947=) n.71C>T n.393C>T c.2799C>T (p.Asp933=) c.3063C>T (p.Asp1021=) c.2985C>T (p.Asp995=) c.2952C>T (p.Asp984=) c.2961C>T (p.Asp987=) c.1971C>T (p.Asp657=) | ClinVar dbSNP |
1 | g.154588210G>C | CA342636104 | ADAR | c.2828C>G (n.2828C>G) c.2964C>G (p.Asp988Glu) c.2817C>G (p.Asp939Glu) c.2586C>G (p.Asp862Glu) c.2049C>G (p.Asp683Glu) c.2934C>G (p.Asp978Glu) c.2856C>G (p.Asp952Glu) n.2919C>G c.*409C>G (n.*409C>G) n.3262C>G c.*1166C>G (n.*1166C>G) n.3387C>G c.1992C>G (p.Asp664Glu) c.*2456C>G (n.*2456C>G) n.2194C>G c.*2534C>G (n.*2534C>G) c.2841C>G (p.Asp947Glu) n.71C>G n.393C>G c.2799C>G (p.Asp933Glu) c.3063C>G (p.Asp1021Glu) c.2985C>G (p.Asp995Glu) c.2952C>G (p.Asp984Glu) c.2961C>G (p.Asp987Glu) c.1971C>G (p.Asp657Glu) | |
1 | g.154588210G= | CA2480932532 | ADAR | c.2828C= (n.2828C=) c.2964C= (p.Asp988=) c.2817C= (p.Asp939=) c.2586C= (p.Asp862=) c.2049C= (p.Asp683=) c.2934C= (p.Asp978=) c.2856C= (p.Asp952=) n.2919C= c.*409C= (n.*409C=) n.3262C= c.*1166C= (n.*1166C=) n.3387C= c.1992C= (p.Asp664=) c.*2456C= (n.*2456C=) n.2194C= c.*2534C= (n.*2534C=) c.2841C= (p.Asp947=) n.71C= n.393C= c.2799C= (p.Asp933=) c.3063C= (p.Asp1021=) c.2985C= (p.Asp995=) c.2952C= (p.Asp984=) c.2961C= (p.Asp987=) c.1971C= (p.Asp657=) | |
1 | g.154588210G>T | CA342636105 | ADAR | c.2828C>A (n.2828C>A) c.2964C>A (p.Asp988Glu) c.2817C>A (p.Asp939Glu) c.2586C>A (p.Asp862Glu) c.2049C>A (p.Asp683Glu) c.2934C>A (p.Asp978Glu) c.2856C>A (p.Asp952Glu) n.2919C>A c.*409C>A (n.*409C>A) n.3262C>A c.*1166C>A (n.*1166C>A) n.3387C>A c.1992C>A (p.Asp664Glu) c.*2456C>A (n.*2456C>A) n.2194C>A c.*2534C>A (n.*2534C>A) c.2841C>A (p.Asp947Glu) n.71C>A n.393C>A c.2799C>A (p.Asp933Glu) c.3063C>A (p.Asp1021Glu) c.2985C>A (p.Asp995Glu) c.2952C>A (p.Asp984Glu) c.2961C>A (p.Asp987Glu) c.1971C>A (p.Asp657Glu) | |
1 | g.154588211T>A | CA342636106 | ADAR | c.2827A>T (n.2827A>T) c.2963A>T (p.Asp988Val) c.2816A>T (p.Asp939Val) c.2585A>T (p.Asp862Val) c.2048A>T (p.Asp683Val) c.2933A>T (p.Asp978Val) c.2855A>T (p.Asp952Val) n.2918A>T c.*408A>T (n.*408A>T) n.3261A>T c.*1165A>T (n.*1165A>T) n.3386A>T c.1991A>T (p.Asp664Val) c.*2455A>T (n.*2455A>T) n.2193A>T c.*2533A>T (n.*2533A>T) c.2840A>T (p.Asp947Val) n.70A>T n.392A>T c.2798A>T (p.Asp933Val) c.3062A>T (p.Asp1021Val) c.2984A>T (p.Asp995Val) c.2951A>T (p.Asp984Val) c.2960A>T (p.Asp987Val) c.1970A>T (p.Asp657Val) | |
1 | g.154588211T>C | CA342636107 | ADAR | c.2827A>G (n.2827A>G) c.2963A>G (p.Asp988Gly) c.2816A>G (p.Asp939Gly) c.2585A>G (p.Asp862Gly) c.2048A>G (p.Asp683Gly) c.2933A>G (p.Asp978Gly) c.2855A>G (p.Asp952Gly) n.2918A>G c.*408A>G (n.*408A>G) n.3261A>G c.*1165A>G (n.*1165A>G) n.3386A>G c.1991A>G (p.Asp664Gly) c.*2455A>G (n.*2455A>G) n.2193A>G c.*2533A>G (n.*2533A>G) c.2840A>G (p.Asp947Gly) n.70A>G n.392A>G c.2798A>G (p.Asp933Gly) c.3062A>G (p.Asp1021Gly) c.2984A>G (p.Asp995Gly) c.2951A>G (p.Asp984Gly) c.2960A>G (p.Asp987Gly) c.1970A>G (p.Asp657Gly) | |
1 | g.154588211T>G | CA342636108 | ADAR | c.2827A>C (n.2827A>C) c.2963A>C (p.Asp988Ala) c.2816A>C (p.Asp939Ala) c.2585A>C (p.Asp862Ala) c.2048A>C (p.Asp683Ala) c.2933A>C (p.Asp978Ala) c.2855A>C (p.Asp952Ala) n.2918A>C c.*408A>C (n.*408A>C) n.3261A>C c.*1165A>C (n.*1165A>C) n.3386A>C c.1991A>C (p.Asp664Ala) c.*2455A>C (n.*2455A>C) n.2193A>C c.*2533A>C (n.*2533A>C) c.2840A>C (p.Asp947Ala) n.70A>C n.392A>C c.2798A>C (p.Asp933Ala) c.3062A>C (p.Asp1021Ala) c.2984A>C (p.Asp995Ala) c.2951A>C (p.Asp984Ala) c.2960A>C (p.Asp987Ala) c.1970A>C (p.Asp657Ala) | |
1 | g.154588212C>A | CA342636109 | ADAR | c.2826G>T (n.2826G>T) c.2962G>T (p.Asp988Tyr) c.2815G>T (p.Asp939Tyr) c.2584G>T (p.Asp862Tyr) c.2047G>T (p.Asp683Tyr) c.2932G>T (p.Asp978Tyr) c.2854G>T (p.Asp952Tyr) n.2917G>T c.*407G>T (n.*407G>T) n.3260G>T c.*1164G>T (n.*1164G>T) n.3385G>T c.1990G>T (p.Asp664Tyr) c.*2454G>T (n.*2454G>T) n.2192G>T c.*2532G>T (n.*2532G>T) c.2839G>T (p.Asp947Tyr) n.69G>T n.391G>T c.2797G>T (p.Asp933Tyr) c.3061G>T (p.Asp1021Tyr) c.2983G>T (p.Asp995Tyr) c.2950G>T (p.Asp984Tyr) c.2959G>T (p.Asp987Tyr) c.1969G>T (p.Asp657Tyr) | gnomAD v4 |
1 | g.154588212C= | CA2480932533 | ADAR | c.2826G= (n.2826G=) c.2962G= (p.Asp988=) c.2815G= (p.Asp939=) c.2584G= (p.Asp862=) c.2047G= (p.Asp683=) c.2932G= (p.Asp978=) c.2854G= (p.Asp952=) n.2917G= c.*407G= (n.*407G=) n.3260G= c.*1164G= (n.*1164G=) n.3385G= c.1990G= (p.Asp664=) c.*2454G= (n.*2454G=) n.2192G= c.*2532G= (n.*2532G=) c.2839G= (p.Asp947=) n.69G= n.391G= c.2797G= (p.Asp933=) c.3061G= (p.Asp1021=) c.2983G= (p.Asp995=) c.2950G= (p.Asp984=) c.2959G= (p.Asp987=) c.1969G= (p.Asp657=) | |
1 | g.154588212C>G | CA342636110 | ADAR | c.2826G>C (n.2826G>C) c.2962G>C (p.Asp988His) c.2815G>C (p.Asp939His) c.2584G>C (p.Asp862His) c.2047G>C (p.Asp683His) c.2932G>C (p.Asp978His) c.2854G>C (p.Asp952His) n.2917G>C c.*407G>C (n.*407G>C) n.3260G>C c.*1164G>C (n.*1164G>C) n.3385G>C c.1990G>C (p.Asp664His) c.*2454G>C (n.*2454G>C) n.2192G>C c.*2532G>C (n.*2532G>C) c.2839G>C (p.Asp947His) n.69G>C n.391G>C c.2797G>C (p.Asp933His) c.3061G>C (p.Asp1021His) c.2983G>C (p.Asp995His) c.2950G>C (p.Asp984His) c.2959G>C (p.Asp987His) c.1969G>C (p.Asp657His) | |
1 | g.154588212C>T | CA342636111 | ADAR | c.2826G>A (n.2826G>A) c.2962G>A (p.Asp988Asn) c.2815G>A (p.Asp939Asn) c.2584G>A (p.Asp862Asn) c.2047G>A (p.Asp683Asn) c.2932G>A (p.Asp978Asn) c.2854G>A (p.Asp952Asn) n.2917G>A c.*407G>A (n.*407G>A) n.3260G>A c.*1164G>A (n.*1164G>A) n.3385G>A c.1990G>A (p.Asp664Asn) c.*2454G>A (n.*2454G>A) n.2192G>A c.*2532G>A (n.*2532G>A) c.2839G>A (p.Asp947Asn) n.69G>A n.391G>A c.2797G>A (p.Asp933Asn) c.3061G>A (p.Asp1021Asn) c.2983G>A (p.Asp995Asn) c.2950G>A (p.Asp984Asn) c.2959G>A (p.Asp987Asn) c.1969G>A (p.Asp657Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154588213G>A | CA30851439 | ADAR | c.2825C>T (n.2825C>T) c.2961C>T (p.Ser987=) c.2814C>T (p.Ser938=) c.2583C>T (p.Ser861=) c.2046C>T (p.Ser682=) c.2931C>T (p.Ser977=) c.2853C>T (p.Ser951=) n.2916C>T c.*406C>T (n.*406C>T) n.3259C>T c.*1163C>T (n.*1163C>T) n.3384C>T c.1989C>T (p.Ser663=) c.*2453C>T (n.*2453C>T) n.2191C>T c.*2531C>T (n.*2531C>T) c.2838C>T (p.Ser946=) n.68C>T n.390C>T c.2796C>T (p.Ser932=) c.3060C>T (p.Ser1020=) c.2982C>T (p.Ser994=) c.2949C>T (p.Ser983=) c.2958C>T (p.Ser986=) c.1968C>T (p.Ser656=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154588213G>C | CA342636113 | ADAR | c.2825C>G (n.2825C>G) c.2961C>G (p.Ser987Arg) c.2814C>G (p.Ser938Arg) c.2583C>G (p.Ser861Arg) c.2046C>G (p.Ser682Arg) c.2931C>G (p.Ser977Arg) c.2853C>G (p.Ser951Arg) n.2916C>G c.*406C>G (n.*406C>G) n.3259C>G c.*1163C>G (n.*1163C>G) n.3384C>G c.1989C>G (p.Ser663Arg) c.*2453C>G (n.*2453C>G) n.2191C>G c.*2531C>G (n.*2531C>G) c.2838C>G (p.Ser946Arg) n.68C>G n.390C>G c.2796C>G (p.Ser932Arg) c.3060C>G (p.Ser1020Arg) c.2982C>G (p.Ser994Arg) c.2949C>G (p.Ser983Arg) c.2958C>G (p.Ser986Arg) c.1968C>G (p.Ser656Arg) | |
1 | g.154588213G= | CA1141745153 | ADAR | c.2825C= (n.2825C=) c.2961C= (p.Ser987=) c.2814C= (p.Ser938=) c.2583C= (p.Ser861=) c.2046C= (p.Ser682=) c.2931C= (p.Ser977=) c.2853C= (p.Ser951=) n.2916C= c.*406C= (n.*406C=) n.3259C= c.*1163C= (n.*1163C=) n.3384C= c.1989C= (p.Ser663=) c.*2453C= (n.*2453C=) n.2191C= c.*2531C= (n.*2531C=) c.2838C= (p.Ser946=) n.68C= n.390C= c.2796C= (p.Ser932=) c.3060C= (p.Ser1020=) c.2982C= (p.Ser994=) c.2949C= (p.Ser983=) c.2958C= (p.Ser986=) c.1968C= (p.Ser656=) | |
1 | g.154588213G>T | CA342636112 | ADAR | c.2825C>A (n.2825C>A) c.2961C>A (p.Ser987Arg) c.2814C>A (p.Ser938Arg) c.2583C>A (p.Ser861Arg) c.2046C>A (p.Ser682Arg) c.2931C>A (p.Ser977Arg) c.2853C>A (p.Ser951Arg) n.2916C>A c.*406C>A (n.*406C>A) n.3259C>A c.*1163C>A (n.*1163C>A) n.3384C>A c.1989C>A (p.Ser663Arg) c.*2453C>A (n.*2453C>A) n.2191C>A c.*2531C>A (n.*2531C>A) c.2838C>A (p.Ser946Arg) n.68C>A n.390C>A c.2796C>A (p.Ser932Arg) c.3060C>A (p.Ser1020Arg) c.2982C>A (p.Ser994Arg) c.2949C>A (p.Ser983Arg) c.2958C>A (p.Ser986Arg) c.1968C>A (p.Ser656Arg) | |
1 | g.154588214C>A | CA342636114 | ADAR | c.2824G>T (n.2824G>T) c.2960G>T (p.Ser987Ile) c.2813G>T (p.Ser938Ile) c.2582G>T (p.Ser861Ile) c.2045G>T (p.Ser682Ile) c.2930G>T (p.Ser977Ile) c.2852G>T (p.Ser951Ile) n.2915G>T c.*405G>T (n.*405G>T) n.3258G>T c.*1162G>T (n.*1162G>T) n.3383G>T c.1988G>T (p.Ser663Ile) c.*2452G>T (n.*2452G>T) n.2190G>T c.*2530G>T (n.*2530G>T) c.2837G>T (p.Ser946Ile) n.67G>T n.389G>T c.2795G>T (p.Ser932Ile) c.3059G>T (p.Ser1020Ile) c.2981G>T (p.Ser994Ile) c.2948G>T (p.Ser983Ile) c.2957G>T (p.Ser986Ile) c.1967G>T (p.Ser656Ile) | |
1 | g.154588214C= | CA2480932534 | ADAR | c.2824G= (n.2824G=) c.2960G= (p.Ser987=) c.2813G= (p.Ser938=) c.2582G= (p.Ser861=) c.2045G= (p.Ser682=) c.2930G= (p.Ser977=) c.2852G= (p.Ser951=) n.2915G= c.*405G= (n.*405G=) n.3258G= c.*1162G= (n.*1162G=) n.3383G= c.1988G= (p.Ser663=) c.*2452G= (n.*2452G=) n.2190G= c.*2530G= (n.*2530G=) c.2837G= (p.Ser946=) n.67G= n.389G= c.2795G= (p.Ser932=) c.3059G= (p.Ser1020=) c.2981G= (p.Ser994=) c.2948G= (p.Ser983=) c.2957G= (p.Ser986=) c.1967G= (p.Ser656=) | |
1 | g.154588214C>G | CA342636115 | ADAR | c.2824G>C (n.2824G>C) c.2960G>C (p.Ser987Thr) c.2813G>C (p.Ser938Thr) c.2582G>C (p.Ser861Thr) c.2045G>C (p.Ser682Thr) c.2930G>C (p.Ser977Thr) c.2852G>C (p.Ser951Thr) n.2915G>C c.*405G>C (n.*405G>C) n.3258G>C c.*1162G>C (n.*1162G>C) n.3383G>C c.1988G>C (p.Ser663Thr) c.*2452G>C (n.*2452G>C) n.2190G>C c.*2530G>C (n.*2530G>C) c.2837G>C (p.Ser946Thr) n.67G>C n.389G>C c.2795G>C (p.Ser932Thr) c.3059G>C (p.Ser1020Thr) c.2981G>C (p.Ser994Thr) c.2948G>C (p.Ser983Thr) c.2957G>C (p.Ser986Thr) c.1967G>C (p.Ser656Thr) | |
1 | g.154588214C>T | CA342636116 | ADAR | c.2824G>A (n.2824G>A) c.2960G>A (p.Ser987Asn) c.2813G>A (p.Ser938Asn) c.2582G>A (p.Ser861Asn) c.2045G>A (p.Ser682Asn) c.2930G>A (p.Ser977Asn) c.2852G>A (p.Ser951Asn) n.2915G>A c.*405G>A (n.*405G>A) n.3258G>A c.*1162G>A (n.*1162G>A) n.3383G>A c.1988G>A (p.Ser663Asn) c.*2452G>A (n.*2452G>A) n.2190G>A c.*2530G>A (n.*2530G>A) c.2837G>A (p.Ser946Asn) n.67G>A n.389G>A c.2795G>A (p.Ser932Asn) c.3059G>A (p.Ser1020Asn) c.2981G>A (p.Ser994Asn) c.2948G>A (p.Ser983Asn) c.2957G>A (p.Ser986Asn) c.1967G>A (p.Ser656Asn) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.154588215del | CA2586967352 | ADAR | c.2823del (n.2823del) c.2959del (p.Ser987AlafsTer?) c.2812del (p.Ser938AlafsTer?) c.2581del (p.Ser861AlafsTer?) c.2044del (p.Ser682AlafsTer?) c.2929del (p.Ser977AlafsTer?) c.2851del (p.Ser951AlafsTer?) n.2914del c.*404del (n.*404del) n.3257del c.*1161del (n.*1161del) n.3382del c.1987del (p.Ser663AlafsTer?) c.*2451del (n.*2451del) n.2189del c.*2529del (n.*2529del) c.2836del (p.Ser946AlafsTer?) n.66del n.388del c.2794del (p.Ser932AlafsTer?) c.3058del (p.Ser1020AlafsTer?) c.2980del (p.Ser994AlafsTer?) c.2947del (p.Ser983AlafsTer?) c.2956del (p.Ser986AlafsTer?) c.1966del (p.Ser656AlafsTer?) | |
1 | g.154588215T>A | CA342636117 | ADAR | c.2823A>T (n.2823A>T) c.2959A>T (p.Ser987Cys) c.2812A>T (p.Ser938Cys) c.2581A>T (p.Ser861Cys) c.2044A>T (p.Ser682Cys) c.2929A>T (p.Ser977Cys) c.2851A>T (p.Ser951Cys) n.2914A>T c.*404A>T (n.*404A>T) n.3257A>T c.*1161A>T (n.*1161A>T) n.3382A>T c.1987A>T (p.Ser663Cys) c.*2451A>T (n.*2451A>T) n.2189A>T c.*2529A>T (n.*2529A>T) c.2836A>T (p.Ser946Cys) n.66A>T n.388A>T c.2794A>T (p.Ser932Cys) c.3058A>T (p.Ser1020Cys) c.2980A>T (p.Ser994Cys) c.2947A>T (p.Ser983Cys) c.2956A>T (p.Ser986Cys) c.1966A>T (p.Ser656Cys) | |
1 | g.154588215T>C | CA342636118 | ADAR | c.2823A>G (n.2823A>G) c.2959A>G (p.Ser987Gly) c.2812A>G (p.Ser938Gly) c.2581A>G (p.Ser861Gly) c.2044A>G (p.Ser682Gly) c.2929A>G (p.Ser977Gly) c.2851A>G (p.Ser951Gly) n.2914A>G c.*404A>G (n.*404A>G) n.3257A>G c.*1161A>G (n.*1161A>G) n.3382A>G c.1987A>G (p.Ser663Gly) c.*2451A>G (n.*2451A>G) n.2189A>G c.*2529A>G (n.*2529A>G) c.2836A>G (p.Ser946Gly) n.66A>G n.388A>G c.2794A>G (p.Ser932Gly) c.3058A>G (p.Ser1020Gly) c.2980A>G (p.Ser994Gly) c.2947A>G (p.Ser983Gly) c.2956A>G (p.Ser986Gly) c.1966A>G (p.Ser656Gly) | |
1 | g.154588215T>G | CA1131100 | ADAR | c.2823A>C (n.2823A>C) c.2959A>C (p.Ser987Arg) c.2812A>C (p.Ser938Arg) c.2581A>C (p.Ser861Arg) c.2044A>C (p.Ser682Arg) c.2929A>C (p.Ser977Arg) c.2851A>C (p.Ser951Arg) n.2914A>C c.*404A>C (n.*404A>C) n.3257A>C c.*1161A>C (n.*1161A>C) n.3382A>C c.1987A>C (p.Ser663Arg) c.*2451A>C (n.*2451A>C) n.2189A>C c.*2529A>C (n.*2529A>C) c.2836A>C (p.Ser946Arg) n.66A>C n.388A>C c.2794A>C (p.Ser932Arg) c.3058A>C (p.Ser1020Arg) c.2980A>C (p.Ser994Arg) c.2947A>C (p.Ser983Arg) c.2956A>C (p.Ser986Arg) c.1966A>C (p.Ser656Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154588215T= | CA2480932535 | ADAR | c.2823A= (n.2823A=) c.2959A= (p.Ser987=) c.2812A= (p.Ser938=) c.2581A= (p.Ser861=) c.2044A= (p.Ser682=) c.2929A= (p.Ser977=) c.2851A= (p.Ser951=) n.2914A= c.*404A= (n.*404A=) n.3257A= c.*1161A= (n.*1161A=) n.3382A= c.1987A= (p.Ser663=) c.*2451A= (n.*2451A=) n.2189A= c.*2529A= (n.*2529A=) c.2836A= (p.Ser946=) n.66A= n.388A= c.2794A= (p.Ser932=) c.3058A= (p.Ser1020=) c.2980A= (p.Ser994=) c.2947A= (p.Ser983=) c.2956A= (p.Ser986=) c.1966A= (p.Ser656=) | |
1 | g.154588216G>A | CA421231964 | ADAR | c.2822C>T (n.2822C>T) c.2958C>T (p.Cys986=) c.2811C>T (p.Cys937=) c.2580C>T (p.Cys860=) c.2043C>T (p.Cys681=) c.2928C>T (p.Cys976=) c.2850C>T (p.Cys950=) n.2913C>T c.*403C>T (n.*403C>T) n.3256C>T c.*1160C>T (n.*1160C>T) n.3381C>T c.1986C>T (p.Cys662=) c.*2450C>T (n.*2450C>T) n.2188C>T c.*2528C>T (n.*2528C>T) c.2835C>T (p.Cys945=) n.65C>T n.387C>T c.2793C>T (p.Cys931=) c.3057C>T (p.Cys1019=) c.2979C>T (p.Cys993=) c.2946C>T (p.Cys982=) c.2955C>T (p.Cys985=) c.1965C>T (p.Cys655=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154588216G>C | CA342636119 | ADAR | c.2822C>G (n.2822C>G) c.2958C>G (p.Cys986Trp) c.2811C>G (p.Cys937Trp) c.2580C>G (p.Cys860Trp) c.2043C>G (p.Cys681Trp) c.2928C>G (p.Cys976Trp) c.2850C>G (p.Cys950Trp) n.2913C>G c.*403C>G (n.*403C>G) n.3256C>G c.*1160C>G (n.*1160C>G) n.3381C>G c.1986C>G (p.Cys662Trp) c.*2450C>G (n.*2450C>G) n.2188C>G c.*2528C>G (n.*2528C>G) c.2835C>G (p.Cys945Trp) n.65C>G n.387C>G c.2793C>G (p.Cys931Trp) c.3057C>G (p.Cys1019Trp) c.2979C>G (p.Cys993Trp) c.2946C>G (p.Cys982Trp) c.2955C>G (p.Cys985Trp) c.1965C>G (p.Cys655Trp) | |
1 | g.154588216G= | CA2480932536 | ADAR | c.2822C= (n.2822C=) c.2958C= (p.Cys986=) c.2811C= (p.Cys937=) c.2580C= (p.Cys860=) c.2043C= (p.Cys681=) c.2928C= (p.Cys976=) c.2850C= (p.Cys950=) n.2913C= c.*403C= (n.*403C=) n.3256C= c.*1160C= (n.*1160C=) n.3381C= c.1986C= (p.Cys662=) c.*2450C= (n.*2450C=) n.2188C= c.*2528C= (n.*2528C=) c.2835C= (p.Cys945=) n.65C= n.387C= c.2793C= (p.Cys931=) c.3057C= (p.Cys1019=) c.2979C= (p.Cys993=) c.2946C= (p.Cys982=) c.2955C= (p.Cys985=) c.1965C= (p.Cys655=) | |
1 | g.154588216G>T | CA342636120 | ADAR | c.2822C>A (n.2822C>A) c.2958C>A (p.Cys986Ter) c.2811C>A (p.Cys937Ter) c.2580C>A (p.Cys860Ter) c.2043C>A (p.Cys681Ter) c.2928C>A (p.Cys976Ter) c.2850C>A (p.Cys950Ter) n.2913C>A c.*403C>A (n.*403C>A) n.3256C>A c.*1160C>A (n.*1160C>A) n.3381C>A c.1986C>A (p.Cys662Ter) c.*2450C>A (n.*2450C>A) n.2188C>A c.*2528C>A (n.*2528C>A) c.2835C>A (p.Cys945Ter) n.65C>A n.387C>A c.2793C>A (p.Cys931Ter) c.3057C>A (p.Cys1019Ter) c.2979C>A (p.Cys993Ter) c.2946C>A (p.Cys982Ter) c.2955C>A (p.Cys985Ter) c.1965C>A (p.Cys655Ter) | |
1 | g.154588217_154588219del | CA2573130544 | ADAR | c.2820_2822del (n.2820_2822del) c.2956_2958del (p.Cys986del) c.2809_2811del (p.Cys937del) c.2578_2580del (p.Cys860del) c.2041_2043del (p.Cys681del) c.2926_2928del (p.Cys976del) c.2848_2850del (p.Cys950del) n.2911_2913del c.*401_*403del (n.*401_*403del) n.3254_3256del c.*1158_*1160del (n.*1158_*1160del) n.3379_3381del c.1984_1986del (p.Cys662del) c.*2448_*2450del (n.*2448_*2450del) n.2186_2188del c.*2526_*2528del (n.*2526_*2528del) c.2833_2835del (p.Cys945del) n.63_65del n.385_387del c.2791_2793del (p.Cys931del) c.3055_3057del (p.Cys1019del) c.2977_2979del (p.Cys993del) c.2944_2946del (p.Cys982del) c.2953_2955del (p.Cys985del) c.1963_1965del (p.Cys655del) | ClinVar dbSNP |
1 | g.154588217C>A | CA342636121 | ADAR | c.2821G>T (n.2821G>T) c.2957G>T (p.Cys986Phe) c.2810G>T (p.Cys937Phe) c.2579G>T (p.Cys860Phe) c.2042G>T (p.Cys681Phe) c.2927G>T (p.Cys976Phe) c.2849G>T (p.Cys950Phe) n.2912G>T c.*402G>T (n.*402G>T) n.3255G>T c.*1159G>T (n.*1159G>T) n.3380G>T c.1985G>T (p.Cys662Phe) c.*2449G>T (n.*2449G>T) n.2187G>T c.*2527G>T (n.*2527G>T) c.2834G>T (p.Cys945Phe) n.64G>T n.386G>T c.2792G>T (p.Cys931Phe) c.3056G>T (p.Cys1019Phe) c.2978G>T (p.Cys993Phe) c.2945G>T (p.Cys982Phe) c.2954G>T (p.Cys985Phe) c.1964G>T (p.Cys655Phe) | |
1 | g.154588217C= | CA2480932537 | ADAR | c.2821G= (n.2821G=) c.2957G= (p.Cys986=) c.2810G= (p.Cys937=) c.2579G= (p.Cys860=) c.2042G= (p.Cys681=) c.2927G= (p.Cys976=) c.2849G= (p.Cys950=) n.2912G= c.*402G= (n.*402G=) n.3255G= c.*1159G= (n.*1159G=) n.3380G= c.1985G= (p.Cys662=) c.*2449G= (n.*2449G=) n.2187G= c.*2527G= (n.*2527G=) c.2834G= (p.Cys945=) n.64G= n.386G= c.2792G= (p.Cys931=) c.3056G= (p.Cys1019=) c.2978G= (p.Cys993=) c.2945G= (p.Cys982=) c.2954G= (p.Cys985=) c.1964G= (p.Cys655=) | |
1 | g.154588217C>G | CA342636122 | ADAR | c.2821G>C (n.2821G>C) c.2957G>C (p.Cys986Ser) c.2810G>C (p.Cys937Ser) c.2579G>C (p.Cys860Ser) c.2042G>C (p.Cys681Ser) c.2927G>C (p.Cys976Ser) c.2849G>C (p.Cys950Ser) n.2912G>C c.*402G>C (n.*402G>C) n.3255G>C c.*1159G>C (n.*1159G>C) n.3380G>C c.1985G>C (p.Cys662Ser) c.*2449G>C (n.*2449G>C) n.2187G>C c.*2527G>C (n.*2527G>C) c.2834G>C (p.Cys945Ser) n.64G>C n.386G>C c.2792G>C (p.Cys931Ser) c.3056G>C (p.Cys1019Ser) c.2978G>C (p.Cys993Ser) c.2945G>C (p.Cys982Ser) c.2954G>C (p.Cys985Ser) c.1964G>C (p.Cys655Ser) | |
1 | g.154588217C>T | CA342636123 | ADAR | c.2821G>A (n.2821G>A) c.2957G>A (p.Cys986Tyr) c.2810G>A (p.Cys937Tyr) c.2579G>A (p.Cys860Tyr) c.2042G>A (p.Cys681Tyr) c.2927G>A (p.Cys976Tyr) c.2849G>A (p.Cys950Tyr) n.2912G>A c.*402G>A (n.*402G>A) n.3255G>A c.*1159G>A (n.*1159G>A) n.3380G>A c.1985G>A (p.Cys662Tyr) c.*2449G>A (n.*2449G>A) n.2187G>A c.*2527G>A (n.*2527G>A) c.2834G>A (p.Cys945Tyr) n.64G>A n.386G>A c.2792G>A (p.Cys931Tyr) c.3056G>A (p.Cys1019Tyr) c.2978G>A (p.Cys993Tyr) c.2945G>A (p.Cys982Tyr) c.2954G>A (p.Cys985Tyr) c.1964G>A (p.Cys655Tyr) | dbSNP |
1 | g.154588218A>C | CA342636126 | ADAR | c.2820T>G (n.2820T>G) c.2956T>G (p.Cys986Gly) c.2809T>G (p.Cys937Gly) c.2578T>G (p.Cys860Gly) c.2041T>G (p.Cys681Gly) c.2926T>G (p.Cys976Gly) c.2848T>G (p.Cys950Gly) n.2911T>G c.*401T>G (n.*401T>G) n.3254T>G c.*1158T>G (n.*1158T>G) n.3379T>G c.1984T>G (p.Cys662Gly) c.*2448T>G (n.*2448T>G) n.2186T>G c.*2526T>G (n.*2526T>G) c.2833T>G (p.Cys945Gly) n.63T>G n.385T>G c.2791T>G (p.Cys931Gly) c.3055T>G (p.Cys1019Gly) c.2977T>G (p.Cys993Gly) c.2944T>G (p.Cys982Gly) c.2953T>G (p.Cys985Gly) c.1963T>G (p.Cys655Gly) | gnomAD v4 |
1 | g.154588218A>G | CA342636125 | ADAR | c.2820T>C (n.2820T>C) c.2956T>C (p.Cys986Arg) c.2809T>C (p.Cys937Arg) c.2578T>C (p.Cys860Arg) c.2041T>C (p.Cys681Arg) c.2926T>C (p.Cys976Arg) c.2848T>C (p.Cys950Arg) n.2911T>C c.*401T>C (n.*401T>C) n.3254T>C c.*1158T>C (n.*1158T>C) n.3379T>C c.1984T>C (p.Cys662Arg) c.*2448T>C (n.*2448T>C) n.2186T>C c.*2526T>C (n.*2526T>C) c.2833T>C (p.Cys945Arg) n.63T>C n.385T>C c.2791T>C (p.Cys931Arg) c.3055T>C (p.Cys1019Arg) c.2977T>C (p.Cys993Arg) c.2944T>C (p.Cys982Arg) c.2953T>C (p.Cys985Arg) c.1963T>C (p.Cys655Arg) | |
1 | g.154588218A>T | CA342636124 | ADAR | c.2820T>A (n.2820T>A) c.2956T>A (p.Cys986Ser) c.2809T>A (p.Cys937Ser) c.2578T>A (p.Cys860Ser) c.2041T>A (p.Cys681Ser) c.2926T>A (p.Cys976Ser) c.2848T>A (p.Cys950Ser) n.2911T>A c.*401T>A (n.*401T>A) n.3254T>A c.*1158T>A (n.*1158T>A) n.3379T>A c.1984T>A (p.Cys662Ser) c.*2448T>A (n.*2448T>A) n.2186T>A c.*2526T>A (n.*2526T>A) c.2833T>A (p.Cys945Ser) n.63T>A n.385T>A c.2791T>A (p.Cys931Ser) c.3055T>A (p.Cys1019Ser) c.2977T>A (p.Cys993Ser) c.2944T>A (p.Cys982Ser) c.2953T>A (p.Cys985Ser) c.1963T>A (p.Cys655Ser) | |
1 | g.154588219G>A | CA421231965 | ADAR | c.2819C>T (n.2819C>T) c.2955C>T (p.Ser985=) c.2808C>T (p.Ser936=) c.2577C>T (p.Ser859=) c.2040C>T (p.Ser680=) c.2925C>T (p.Ser975=) c.2847C>T (p.Ser949=) n.2910C>T c.*400C>T (n.*400C>T) n.3253C>T c.*1157C>T (n.*1157C>T) n.3378C>T c.1983C>T (p.Ser661=) c.*2447C>T (n.*2447C>T) n.2185C>T c.*2525C>T (n.*2525C>T) c.2832C>T (p.Ser944=) n.62C>T n.384C>T c.2790C>T (p.Ser930=) c.3054C>T (p.Ser1018=) c.2976C>T (p.Ser992=) c.2943C>T (p.Ser981=) c.2952C>T (p.Ser984=) c.1962C>T (p.Ser654=) | dbSNP gnomAD v4 |
1 | g.154588219G>C | CA421231966 | ADAR | c.2819C>G (n.2819C>G) c.2955C>G (p.Ser985=) c.2808C>G (p.Ser936=) c.2577C>G (p.Ser859=) c.2040C>G (p.Ser680=) c.2925C>G (p.Ser975=) c.2847C>G (p.Ser949=) n.2910C>G c.*400C>G (n.*400C>G) n.3253C>G c.*1157C>G (n.*1157C>G) n.3378C>G c.1983C>G (p.Ser661=) c.*2447C>G (n.*2447C>G) n.2185C>G c.*2525C>G (n.*2525C>G) c.2832C>G (p.Ser944=) n.62C>G n.384C>G c.2790C>G (p.Ser930=) c.3054C>G (p.Ser1018=) c.2976C>G (p.Ser992=) c.2943C>G (p.Ser981=) c.2952C>G (p.Ser984=) c.1962C>G (p.Ser654=) | |
1 | g.154588219G= | CA2480932538 | ADAR | c.2819C= (n.2819C=) c.2955C= (p.Ser985=) c.2808C= (p.Ser936=) c.2577C= (p.Ser859=) c.2040C= (p.Ser680=) c.2925C= (p.Ser975=) c.2847C= (p.Ser949=) n.2910C= c.*400C= (n.*400C=) n.3253C= c.*1157C= (n.*1157C=) n.3378C= c.1983C= (p.Ser661=) c.*2447C= (n.*2447C=) n.2185C= c.*2525C= (n.*2525C=) c.2832C= (p.Ser944=) n.62C= n.384C= c.2790C= (p.Ser930=) c.3054C= (p.Ser1018=) c.2976C= (p.Ser992=) c.2943C= (p.Ser981=) c.2952C= (p.Ser984=) c.1962C= (p.Ser654=) | |
1 | g.154588219G>T | CA421231967 | ADAR | c.2819C>A (n.2819C>A) c.2955C>A (p.Ser985=) c.2808C>A (p.Ser936=) c.2577C>A (p.Ser859=) c.2040C>A (p.Ser680=) c.2925C>A (p.Ser975=) c.2847C>A (p.Ser949=) n.2910C>A c.*400C>A (n.*400C>A) n.3253C>A c.*1157C>A (n.*1157C>A) n.3378C>A c.1983C>A (p.Ser661=) c.*2447C>A (n.*2447C>A) n.2185C>A c.*2525C>A (n.*2525C>A) c.2832C>A (p.Ser944=) n.62C>A n.384C>A c.2790C>A (p.Ser930=) c.3054C>A (p.Ser1018=) c.2976C>A (p.Ser992=) c.2943C>A (p.Ser981=) c.2952C>A (p.Ser984=) c.1962C>A (p.Ser654=) | |
1 | g.154588220G>A | CA1131101 | ADAR | c.2818C>T (n.2818C>T) c.2954C>T (p.Ser985Phe) c.2807C>T (p.Ser936Phe) c.2576C>T (p.Ser859Phe) c.2039C>T (p.Ser680Phe) c.2924C>T (p.Ser975Phe) c.2846C>T (p.Ser949Phe) n.2909C>T c.*399C>T (n.*399C>T) n.3252C>T c.*1156C>T (n.*1156C>T) n.3377C>T c.1982C>T (p.Ser661Phe) c.*2446C>T (n.*2446C>T) n.2184C>T c.*2524C>T (n.*2524C>T) c.2831C>T (p.Ser944Phe) n.61C>T n.383C>T c.2789C>T (p.Ser930Phe) c.3053C>T (p.Ser1018Phe) c.2975C>T (p.Ser992Phe) c.2942C>T (p.Ser981Phe) c.2951C>T (p.Ser984Phe) c.1961C>T (p.Ser654Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.154588220G>C | CA342636127 | ADAR | c.2818C>G (n.2818C>G) c.2954C>G (p.Ser985Cys) c.2807C>G (p.Ser936Cys) c.2576C>G (p.Ser859Cys) c.2039C>G (p.Ser680Cys) c.2924C>G (p.Ser975Cys) c.2846C>G (p.Ser949Cys) n.2909C>G c.*399C>G (n.*399C>G) n.3252C>G c.*1156C>G (n.*1156C>G) n.3377C>G c.1982C>G (p.Ser661Cys) c.*2446C>G (n.*2446C>G) n.2184C>G c.*2524C>G (n.*2524C>G) c.2831C>G (p.Ser944Cys) n.61C>G n.383C>G c.2789C>G (p.Ser930Cys) c.3053C>G (p.Ser1018Cys) c.2975C>G (p.Ser992Cys) c.2942C>G (p.Ser981Cys) c.2951C>G (p.Ser984Cys) c.1961C>G (p.Ser654Cys) | |
1 | g.154588220G= | CA2480932539 | ADAR | c.2818C= (n.2818C=) c.2954C= (p.Ser985=) c.2807C= (p.Ser936=) c.2576C= (p.Ser859=) c.2039C= (p.Ser680=) c.2924C= (p.Ser975=) c.2846C= (p.Ser949=) n.2909C= c.*399C= (n.*399C=) n.3252C= c.*1156C= (n.*1156C=) n.3377C= c.1982C= (p.Ser661=) c.*2446C= (n.*2446C=) n.2184C= c.*2524C= (n.*2524C=) c.2831C= (p.Ser944=) n.61C= n.383C= c.2789C= (p.Ser930=) c.3053C= (p.Ser1018=) c.2975C= (p.Ser992=) c.2942C= (p.Ser981=) c.2951C= (p.Ser984=) c.1961C= (p.Ser654=) | |
1 | g.154588220G>T | CA342636128 | ADAR | c.2818C>A (n.2818C>A) c.2954C>A (p.Ser985Tyr) c.2807C>A (p.Ser936Tyr) c.2576C>A (p.Ser859Tyr) c.2039C>A (p.Ser680Tyr) c.2924C>A (p.Ser975Tyr) c.2846C>A (p.Ser949Tyr) n.2909C>A c.*399C>A (n.*399C>A) n.3252C>A c.*1156C>A (n.*1156C>A) n.3377C>A c.1982C>A (p.Ser661Tyr) c.*2446C>A (n.*2446C>A) n.2184C>A c.*2524C>A (n.*2524C>A) c.2831C>A (p.Ser944Tyr) n.61C>A n.383C>A c.2789C>A (p.Ser930Tyr) c.3053C>A (p.Ser1018Tyr) c.2975C>A (p.Ser992Tyr) c.2942C>A (p.Ser981Tyr) c.2951C>A (p.Ser984Tyr) c.1961C>A (p.Ser654Tyr) | dbSNP |
1 | g.154588221A>C | CA342636129 | ADAR | c.2817T>G (n.2817T>G) c.2953T>G (p.Ser985Ala) c.2806T>G (p.Ser936Ala) c.2575T>G (p.Ser859Ala) c.2038T>G (p.Ser680Ala) c.2923T>G (p.Ser975Ala) c.2845T>G (p.Ser949Ala) n.2908T>G c.*398T>G (n.*398T>G) n.3251T>G c.*1155T>G (n.*1155T>G) n.3376T>G c.1981T>G (p.Ser661Ala) c.*2445T>G (n.*2445T>G) n.2183T>G c.*2523T>G (n.*2523T>G) c.2830T>G (p.Ser944Ala) n.60T>G n.382T>G c.2788T>G (p.Ser930Ala) c.3052T>G (p.Ser1018Ala) c.2974T>G (p.Ser992Ala) c.2941T>G (p.Ser981Ala) c.2950T>G (p.Ser984Ala) c.1960T>G (p.Ser654Ala) | |
1 | g.154588221A>G | CA342636130 | ADAR | c.2817T>C (n.2817T>C) c.2953T>C (p.Ser985Pro) c.2806T>C (p.Ser936Pro) c.2575T>C (p.Ser859Pro) c.2038T>C (p.Ser680Pro) c.2923T>C (p.Ser975Pro) c.2845T>C (p.Ser949Pro) n.2908T>C c.*398T>C (n.*398T>C) n.3251T>C c.*1155T>C (n.*1155T>C) n.3376T>C c.1981T>C (p.Ser661Pro) c.*2445T>C (n.*2445T>C) n.2183T>C c.*2523T>C (n.*2523T>C) c.2830T>C (p.Ser944Pro) n.60T>C n.382T>C c.2788T>C (p.Ser930Pro) c.3052T>C (p.Ser1018Pro) c.2974T>C (p.Ser992Pro) c.2941T>C (p.Ser981Pro) c.2950T>C (p.Ser984Pro) c.1960T>C (p.Ser654Pro) | |
1 | g.154588221A>T | CA342636131 | ADAR | c.2817T>A (n.2817T>A) c.2953T>A (p.Ser985Thr) c.2806T>A (p.Ser936Thr) c.2575T>A (p.Ser859Thr) c.2038T>A (p.Ser680Thr) c.2923T>A (p.Ser975Thr) c.2845T>A (p.Ser949Thr) n.2908T>A c.*398T>A (n.*398T>A) n.3251T>A c.*1155T>A (n.*1155T>A) n.3376T>A c.1981T>A (p.Ser661Thr) c.*2445T>A (n.*2445T>A) n.2183T>A c.*2523T>A (n.*2523T>A) c.2830T>A (p.Ser944Thr) n.60T>A n.382T>A c.2788T>A (p.Ser930Thr) c.3052T>A (p.Ser1018Thr) c.2974T>A (p.Ser992Thr) c.2941T>A (p.Ser981Thr) c.2950T>A (p.Ser984Thr) c.1960T>A (p.Ser654Thr) | |
1 | g.154588222C>A | CA342636132 | ADAR | c.2816G>T (n.2816G>T) c.2952G>T (p.Lys984Asn) c.2805G>T (p.Lys935Asn) c.2574G>T (p.Lys858Asn) c.2037G>T (p.Lys679Asn) c.2922G>T (p.Lys974Asn) c.2844G>T (p.Lys948Asn) n.2907G>T c.*397G>T (n.*397G>T) n.3250G>T c.*1154G>T (n.*1154G>T) n.3375G>T c.1980G>T (p.Lys660Asn) c.*2444G>T (n.*2444G>T) n.2182G>T c.*2522G>T (n.*2522G>T) c.2829G>T (p.Lys943Asn) n.59G>T n.381G>T c.2787G>T (p.Lys929Asn) c.3051G>T (p.Lys1017Asn) c.2973G>T (p.Lys991Asn) c.2940G>T (p.Lys980Asn) c.2949G>T (p.Lys983Asn) c.1959G>T (p.Lys653Asn) | |
1 | g.154588222C= | CA1141697362 | ADAR | c.2816G= (n.2816G=) c.2952G= (p.Lys984=) c.2805G= (p.Lys935=) c.2574G= (p.Lys858=) c.2037G= (p.Lys679=) c.2922G= (p.Lys974=) c.2844G= (p.Lys948=) n.2907G= c.*397G= (n.*397G=) n.3250G= c.*1154G= (n.*1154G=) n.3375G= c.1980G= (p.Lys660=) c.*2444G= (n.*2444G=) n.2182G= c.*2522G= (n.*2522G=) c.2829G= (p.Lys943=) n.59G= n.381G= c.2787G= (p.Lys929=) c.3051G= (p.Lys1017=) c.2973G= (p.Lys991=) c.2940G= (p.Lys980=) c.2949G= (p.Lys983=) c.1959G= (p.Lys653=) | |
1 | g.154588222C>G | CA342636133 | ADAR | c.2816G>C (n.2816G>C) c.2952G>C (p.Lys984Asn) c.2805G>C (p.Lys935Asn) c.2574G>C (p.Lys858Asn) c.2037G>C (p.Lys679Asn) c.2922G>C (p.Lys974Asn) c.2844G>C (p.Lys948Asn) n.2907G>C c.*397G>C (n.*397G>C) n.3250G>C c.*1154G>C (n.*1154G>C) n.3375G>C c.1980G>C (p.Lys660Asn) c.*2444G>C (n.*2444G>C) n.2182G>C c.*2522G>C (n.*2522G>C) c.2829G>C (p.Lys943Asn) n.59G>C n.381G>C c.2787G>C (p.Lys929Asn) c.3051G>C (p.Lys1017Asn) c.2973G>C (p.Lys991Asn) c.2940G>C (p.Lys980Asn) c.2949G>C (p.Lys983Asn) c.1959G>C (p.Lys653Asn) | gnomAD v4 |
1 | g.154588222C>T | CA1131102 | ADAR | c.2816G>A (n.2816G>A) c.2952G>A (p.Lys984=) c.2805G>A (p.Lys935=) c.2574G>A (p.Lys858=) c.2037G>A (p.Lys679=) c.2922G>A (p.Lys974=) c.2844G>A (p.Lys948=) n.2907G>A c.*397G>A (n.*397G>A) n.3250G>A c.*1154G>A (n.*1154G>A) n.3375G>A c.1980G>A (p.Lys660=) c.*2444G>A (n.*2444G>A) n.2182G>A c.*2522G>A (n.*2522G>A) c.2829G>A (p.Lys943=) n.59G>A n.381G>A c.2787G>A (p.Lys929=) c.3051G>A (p.Lys1017=) c.2973G>A (p.Lys991=) c.2940G>A (p.Lys980=) c.2949G>A (p.Lys983=) c.1959G>A (p.Lys653=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154588223T>A | CA342636134 | ADAR | c.2815A>T (n.2815A>T) c.2951A>T (p.Lys984Met) c.2804A>T (p.Lys935Met) c.2573A>T (p.Lys858Met) c.2036A>T (p.Lys679Met) c.2921A>T (p.Lys974Met) c.2843A>T (p.Lys948Met) n.2906A>T c.*396A>T (n.*396A>T) n.3249A>T c.*1153A>T (n.*1153A>T) n.3374A>T c.1979A>T (p.Lys660Met) c.*2443A>T (n.*2443A>T) n.2181A>T c.*2521A>T (n.*2521A>T) c.2828A>T (p.Lys943Met) n.58A>T n.380A>T c.2786A>T (p.Lys929Met) c.3050A>T (p.Lys1017Met) c.2972A>T (p.Lys991Met) c.2939A>T (p.Lys980Met) c.2948A>T (p.Lys983Met) c.1958A>T (p.Lys653Met) | |
1 | g.154588223T>C | CA342636135 | ADAR | c.2815A>G (n.2815A>G) c.2951A>G (p.Lys984Arg) c.2804A>G (p.Lys935Arg) c.2573A>G (p.Lys858Arg) c.2036A>G (p.Lys679Arg) c.2921A>G (p.Lys974Arg) c.2843A>G (p.Lys948Arg) n.2906A>G c.*396A>G (n.*396A>G) n.3249A>G c.*1153A>G (n.*1153A>G) n.3374A>G c.1979A>G (p.Lys660Arg) c.*2443A>G (n.*2443A>G) n.2181A>G c.*2521A>G (n.*2521A>G) c.2828A>G (p.Lys943Arg) n.58A>G n.380A>G c.2786A>G (p.Lys929Arg) c.3050A>G (p.Lys1017Arg) c.2972A>G (p.Lys991Arg) c.2939A>G (p.Lys980Arg) c.2948A>G (p.Lys983Arg) c.1958A>G (p.Lys653Arg) | dbSNP |
1 | g.154588223T>G | CA342636136 | ADAR | c.2815A>C (n.2815A>C) c.2951A>C (p.Lys984Thr) c.2804A>C (p.Lys935Thr) c.2573A>C (p.Lys858Thr) c.2036A>C (p.Lys679Thr) c.2921A>C (p.Lys974Thr) c.2843A>C (p.Lys948Thr) n.2906A>C c.*396A>C (n.*396A>C) n.3249A>C c.*1153A>C (n.*1153A>C) n.3374A>C c.1979A>C (p.Lys660Thr) c.*2443A>C (n.*2443A>C) n.2181A>C c.*2521A>C (n.*2521A>C) c.2828A>C (p.Lys943Thr) n.58A>C n.380A>C c.2786A>C (p.Lys929Thr) c.3050A>C (p.Lys1017Thr) c.2972A>C (p.Lys991Thr) c.2939A>C (p.Lys980Thr) c.2948A>C (p.Lys983Thr) c.1958A>C (p.Lys653Thr) | |
1 | g.154588223T= | CA2480932540 | ADAR | c.2815A= (n.2815A=) c.2951A= (p.Lys984=) c.2804A= (p.Lys935=) c.2573A= (p.Lys858=) c.2036A= (p.Lys679=) c.2921A= (p.Lys974=) c.2843A= (p.Lys948=) n.2906A= c.*396A= (n.*396A=) n.3249A= c.*1153A= (n.*1153A=) n.3374A= c.1979A= (p.Lys660=) c.*2443A= (n.*2443A=) n.2181A= c.*2521A= (n.*2521A=) c.2828A= (p.Lys943=) n.58A= n.380A= c.2786A= (p.Lys929=) c.3050A= (p.Lys1017=) c.2972A= (p.Lys991=) c.2939A= (p.Lys980=) c.2948A= (p.Lys983=) c.1958A= (p.Lys653=) | |
1 | g.154588224T>A | CA342636138 | ADAR | c.2814A>T (n.2814A>T) c.2950A>T (p.Lys984Ter) c.2803A>T (p.Lys935Ter) c.2572A>T (p.Lys858Ter) c.2035A>T (p.Lys679Ter) c.2920A>T (p.Lys974Ter) c.2842A>T (p.Lys948Ter) n.2905A>T c.*395A>T (n.*395A>T) n.3248A>T c.*1152A>T (n.*1152A>T) n.3373A>T c.1978A>T (p.Lys660Ter) c.*2442A>T (n.*2442A>T) n.2180A>T c.*2520A>T (n.*2520A>T) c.2827A>T (p.Lys943Ter) n.57A>T n.379A>T c.2785A>T (p.Lys929Ter) c.3049A>T (p.Lys1017Ter) c.2971A>T (p.Lys991Ter) c.2938A>T (p.Lys980Ter) c.2947A>T (p.Lys983Ter) c.1957A>T (p.Lys653Ter) | COSMIC COSMIC |
1 | g.154588224T>C | CA10607928 | ADAR | c.2814A>G (n.2814A>G) c.2950A>G (p.Lys984Glu) c.2803A>G (p.Lys935Glu) c.2572A>G (p.Lys858Glu) c.2035A>G (p.Lys679Glu) c.2920A>G (p.Lys974Glu) c.2842A>G (p.Lys948Glu) n.2905A>G c.*395A>G (n.*395A>G) n.3248A>G c.*1152A>G (n.*1152A>G) n.3373A>G c.1978A>G (p.Lys660Glu) c.*2442A>G (n.*2442A>G) n.2180A>G c.*2520A>G (n.*2520A>G) c.2827A>G (p.Lys943Glu) n.57A>G n.379A>G c.2785A>G (p.Lys929Glu) c.3049A>G (p.Lys1017Glu) c.2971A>G (p.Lys991Glu) c.2938A>G (p.Lys980Glu) c.2947A>G (p.Lys983Glu) c.1957A>G (p.Lys653Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.154588224T>G | CA342636137 | ADAR | c.2814A>C (n.2814A>C) c.2950A>C (p.Lys984Gln) c.2803A>C (p.Lys935Gln) c.2572A>C (p.Lys858Gln) c.2035A>C (p.Lys679Gln) c.2920A>C (p.Lys974Gln) c.2842A>C (p.Lys948Gln) n.2905A>C c.*395A>C (n.*395A>C) n.3248A>C c.*1152A>C (n.*1152A>C) n.3373A>C c.1978A>C (p.Lys660Gln) c.*2442A>C (n.*2442A>C) n.2180A>C c.*2520A>C (n.*2520A>C) c.2827A>C (p.Lys943Gln) n.57A>C n.379A>C c.2785A>C (p.Lys929Gln) c.3049A>C (p.Lys1017Gln) c.2971A>C (p.Lys991Gln) c.2938A>C (p.Lys980Gln) c.2947A>C (p.Lys983Gln) c.1957A>C (p.Lys653Gln) | |
1 | g.154588224T= | CA2480932541 | ADAR | c.2814A= (n.2814A=) c.2950A= (p.Lys984=) c.2803A= (p.Lys935=) c.2572A= (p.Lys858=) c.2035A= (p.Lys679=) c.2920A= (p.Lys974=) c.2842A= (p.Lys948=) n.2905A= c.*395A= (n.*395A=) n.3248A= c.*1152A= (n.*1152A=) n.3373A= c.1978A= (p.Lys660=) c.*2442A= (n.*2442A=) n.2180A= c.*2520A= (n.*2520A=) c.2827A= (p.Lys943=) n.57A= n.379A= c.2785A= (p.Lys929=) c.3049A= (p.Lys1017=) c.2971A= (p.Lys991=) c.2938A= (p.Lys980=) c.2947A= (p.Lys983=) c.1957A= (p.Lys653=) | |
1 | g.154588225G>A | CA421231968 | ADAR | c.2813C>T (n.2813C>T) c.2949C>T (p.Asp983=) c.2802C>T (p.Asp934=) c.2571C>T (p.Asp857=) c.2034C>T (p.Asp678=) c.2919C>T (p.Asp973=) c.2841C>T (p.Asp947=) n.2904C>T c.*394C>T (n.*394C>T) n.3247C>T c.*1151C>T (n.*1151C>T) n.3372C>T c.1977C>T (p.Asp659=) c.*2441C>T (n.*2441C>T) n.2179C>T c.*2519C>T (n.*2519C>T) c.2826C>T (p.Asp942=) n.56C>T n.378C>T c.2784C>T (p.Asp928=) c.3048C>T (p.Asp1016=) c.2970C>T (p.Asp990=) c.2937C>T (p.Asp979=) c.2946C>T (p.Asp982=) c.1956C>T (p.Asp652=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.154588225G>C | CA342636140 | ADAR | c.2813C>G (n.2813C>G) c.2949C>G (p.Asp983Glu) c.2802C>G (p.Asp934Glu) c.2571C>G (p.Asp857Glu) c.2034C>G (p.Asp678Glu) c.2919C>G (p.Asp973Glu) c.2841C>G (p.Asp947Glu) n.2904C>G c.*394C>G (n.*394C>G) n.3247C>G c.*1151C>G (n.*1151C>G) n.3372C>G c.1977C>G (p.Asp659Glu) c.*2441C>G (n.*2441C>G) n.2179C>G c.*2519C>G (n.*2519C>G) c.2826C>G (p.Asp942Glu) n.56C>G n.378C>G c.2784C>G (p.Asp928Glu) c.3048C>G (p.Asp1016Glu) c.2970C>G (p.Asp990Glu) c.2937C>G (p.Asp979Glu) c.2946C>G (p.Asp982Glu) c.1956C>G (p.Asp652Glu) | |
1 | g.154588225G= | CA2480932542 | ADAR | c.2813C= (n.2813C=) c.2949C= (p.Asp983=) c.2802C= (p.Asp934=) c.2571C= (p.Asp857=) c.2034C= (p.Asp678=) c.2919C= (p.Asp973=) c.2841C= (p.Asp947=) n.2904C= c.*394C= (n.*394C=) n.3247C= c.*1151C= (n.*1151C=) n.3372C= c.1977C= (p.Asp659=) c.*2441C= (n.*2441C=) n.2179C= c.*2519C= (n.*2519C=) c.2826C= (p.Asp942=) n.56C= n.378C= c.2784C= (p.Asp928=) c.3048C= (p.Asp1016=) c.2970C= (p.Asp990=) c.2937C= (p.Asp979=) c.2946C= (p.Asp982=) c.1956C= (p.Asp652=) | |
1 | g.154588225G>T | CA342636139 | ADAR | c.2813C>A (n.2813C>A) c.2949C>A (p.Asp983Glu) c.2802C>A (p.Asp934Glu) c.2571C>A (p.Asp857Glu) c.2034C>A (p.Asp678Glu) c.2919C>A (p.Asp973Glu) c.2841C>A (p.Asp947Glu) n.2904C>A c.*394C>A (n.*394C>A) n.3247C>A c.*1151C>A (n.*1151C>A) n.3372C>A c.1977C>A (p.Asp659Glu) c.*2441C>A (n.*2441C>A) n.2179C>A c.*2519C>A (n.*2519C>A) c.2826C>A (p.Asp942Glu) n.56C>A n.378C>A c.2784C>A (p.Asp928Glu) c.3048C>A (p.Asp1016Glu) c.2970C>A (p.Asp990Glu) c.2937C>A (p.Asp979Glu) c.2946C>A (p.Asp982Glu) c.1956C>A (p.Asp652Glu) | |
1 | g.154588226T>A | CA342636143 | ADAR | c.2812A>T (n.2812A>T) c.2948A>T (p.Asp983Val) c.2801A>T (p.Asp934Val) c.2570A>T (p.Asp857Val) c.2033A>T (p.Asp678Val) c.2918A>T (p.Asp973Val) c.2840A>T (p.Asp947Val) n.2903A>T c.*393A>T (n.*393A>T) n.3246A>T c.*1150A>T (n.*1150A>T) n.3371A>T c.1976A>T (p.Asp659Val) c.*2440A>T (n.*2440A>T) n.2178A>T c.*2518A>T (n.*2518A>T) c.2825A>T (p.Asp942Val) n.55A>T n.377A>T c.2783A>T (p.Asp928Val) c.3047A>T (p.Asp1016Val) c.2969A>T (p.Asp990Val) c.2936A>T (p.Asp979Val) c.2945A>T (p.Asp982Val) c.1955A>T (p.Asp652Val) | dbSNP |
1 | g.154588226T>C | CA342636141 | ADAR | c.2812A>G (n.2812A>G) c.2948A>G (p.Asp983Gly) c.2801A>G (p.Asp934Gly) c.2570A>G (p.Asp857Gly) c.2033A>G (p.Asp678Gly) c.2918A>G (p.Asp973Gly) c.2840A>G (p.Asp947Gly) n.2903A>G c.*393A>G (n.*393A>G) n.3246A>G c.*1150A>G (n.*1150A>G) n.3371A>G c.1976A>G (p.Asp659Gly) c.*2440A>G (n.*2440A>G) n.2178A>G c.*2518A>G (n.*2518A>G) c.2825A>G (p.Asp942Gly) n.55A>G n.377A>G c.2783A>G (p.Asp928Gly) c.3047A>G (p.Asp1016Gly) c.2969A>G (p.Asp990Gly) c.2936A>G (p.Asp979Gly) c.2945A>G (p.Asp982Gly) c.1955A>G (p.Asp652Gly) | |
1 | g.154588226T>G | CA342636142 | ADAR | c.2812A>C (n.2812A>C) c.2948A>C (p.Asp983Ala) c.2801A>C (p.Asp934Ala) c.2570A>C (p.Asp857Ala) c.2033A>C (p.Asp678Ala) c.2918A>C (p.Asp973Ala) c.2840A>C (p.Asp947Ala) n.2903A>C c.*393A>C (n.*393A>C) n.3246A>C c.*1150A>C (n.*1150A>C) n.3371A>C c.1976A>C (p.Asp659Ala) c.*2440A>C (n.*2440A>C) n.2178A>C c.*2518A>C (n.*2518A>C) c.2825A>C (p.Asp942Ala) n.55A>C n.377A>C c.2783A>C (p.Asp928Ala) c.3047A>C (p.Asp1016Ala) c.2969A>C (p.Asp990Ala) c.2936A>C (p.Asp979Ala) c.2945A>C (p.Asp982Ala) c.1955A>C (p.Asp652Ala) | |
1 | g.154588226T= | CA2480932543 | ADAR | c.2812A= (n.2812A=) c.2948A= (p.Asp983=) c.2801A= (p.Asp934=) c.2570A= (p.Asp857=) c.2033A= (p.Asp678=) c.2918A= (p.Asp973=) c.2840A= (p.Asp947=) n.2903A= c.*393A= (n.*393A=) n.3246A= c.*1150A= (n.*1150A=) n.3371A= c.1976A= (p.Asp659=) c.*2440A= (n.*2440A=) n.2178A= c.*2518A= (n.*2518A=) c.2825A= (p.Asp942=) n.55A= n.377A= c.2783A= (p.Asp928=) c.3047A= (p.Asp1016=) c.2969A= (p.Asp990=) c.2936A= (p.Asp979=) c.2945A= (p.Asp982=) c.1955A= (p.Asp652=) | |
1 | g.154588227C>A | CA342636144 | ADAR | c.2811G>T (n.2811G>T) c.2947G>T (p.Asp983Tyr) c.2800G>T (p.Asp934Tyr) c.2569G>T (p.Asp857Tyr) c.2032G>T (p.Asp678Tyr) c.2917G>T (p.Asp973Tyr) c.2839G>T (p.Asp947Tyr) n.2902G>T c.*392G>T (n.*392G>T) n.3245G>T c.*1149G>T (n.*1149G>T) n.3370G>T c.1975G>T (p.Asp659Tyr) c.*2439G>T (n.*2439G>T) n.2177G>T c.*2517G>T (n.*2517G>T) c.2824G>T (p.Asp942Tyr) n.54G>T n.376G>T c.2782G>T (p.Asp928Tyr) c.3046G>T (p.Asp1016Tyr) c.2968G>T (p.Asp990Tyr) c.2935G>T (p.Asp979Tyr) c.2944G>T (p.Asp982Tyr) c.1954G>T (p.Asp652Tyr) | |
1 | g.154588227C>G | CA342636145 | ADAR | c.2811G>C (n.2811G>C) c.2947G>C (p.Asp983His) c.2800G>C (p.Asp934His) c.2569G>C (p.Asp857His) c.2032G>C (p.Asp678His) c.2917G>C (p.Asp973His) c.2839G>C (p.Asp947His) n.2902G>C c.*392G>C (n.*392G>C) n.3245G>C c.*1149G>C (n.*1149G>C) n.3370G>C c.1975G>C (p.Asp659His) c.*2439G>C (n.*2439G>C) n.2177G>C c.*2517G>C (n.*2517G>C) c.2824G>C (p.Asp942His) n.54G>C n.376G>C c.2782G>C (p.Asp928His) c.3046G>C (p.Asp1016His) c.2968G>C (p.Asp990His) c.2935G>C (p.Asp979His) c.2944G>C (p.Asp982His) c.1954G>C (p.Asp652His) | |
1 | g.154588227C>T | CA342636146 | ADAR | c.2811G>A (n.2811G>A) c.2947G>A (p.Asp983Asn) c.2800G>A (p.Asp934Asn) c.2569G>A (p.Asp857Asn) c.2032G>A (p.Asp678Asn) c.2917G>A (p.Asp973Asn) c.2839G>A (p.Asp947Asn) n.2902G>A c.*392G>A (n.*392G>A) n.3245G>A c.*1149G>A (n.*1149G>A) n.3370G>A c.1975G>A (p.Asp659Asn) c.*2439G>A (n.*2439G>A) n.2177G>A c.*2517G>A (n.*2517G>A) c.2824G>A (p.Asp942Asn) n.54G>A n.376G>A c.2782G>A (p.Asp928Asn) c.3046G>A (p.Asp1016Asn) c.2968G>A (p.Asp990Asn) c.2935G>A (p.Asp979Asn) c.2944G>A (p.Asp982Asn) c.1954G>A (p.Asp652Asn) | |
1 | g.154588228A>C | CA342636147 | ADAR | c.2810T>G (n.2810T>G) c.2946T>G (p.Phe982Leu) c.2799T>G (p.Phe933Leu) c.2568T>G (p.Phe856Leu) c.2031T>G (p.Phe677Leu) c.2916T>G (p.Phe972Leu) c.2838T>G (p.Phe946Leu) n.2901T>G c.*391T>G (n.*391T>G) n.3244T>G c.*1148T>G (n.*1148T>G) n.3369T>G c.1974T>G (p.Phe658Leu) c.*2438T>G (n.*2438T>G) n.2176T>G c.*2516T>G (n.*2516T>G) c.2823T>G (p.Phe941Leu) n.53T>G n.375T>G c.2781T>G (p.Phe927Leu) c.3045T>G (p.Phe1015Leu) c.2967T>G (p.Phe989Leu) c.2934T>G (p.Phe978Leu) c.2943T>G (p.Phe981Leu) c.1953T>G (p.Phe651Leu) | |
1 | g.154588228A>G | CA421231969 | ADAR | c.2810T>C (n.2810T>C) c.2946T>C (p.Phe982=) c.2799T>C (p.Phe933=) c.2568T>C (p.Phe856=) c.2031T>C (p.Phe677=) c.2916T>C (p.Phe972=) c.2838T>C (p.Phe946=) n.2901T>C c.*391T>C (n.*391T>C) n.3244T>C c.*1148T>C (n.*1148T>C) n.3369T>C c.1974T>C (p.Phe658=) c.*2438T>C (n.*2438T>C) n.2176T>C c.*2516T>C (n.*2516T>C) c.2823T>C (p.Phe941=) n.53T>C n.375T>C c.2781T>C (p.Phe927=) c.3045T>C (p.Phe1015=) c.2967T>C (p.Phe989=) c.2934T>C (p.Phe978=) c.2943T>C (p.Phe981=) c.1953T>C (p.Phe651=) | |
1 | g.154588228A>T | CA342636148 | ADAR | c.2810T>A (n.2810T>A) c.2946T>A (p.Phe982Leu) c.2799T>A (p.Phe933Leu) c.2568T>A (p.Phe856Leu) c.2031T>A (p.Phe677Leu) c.2916T>A (p.Phe972Leu) c.2838T>A (p.Phe946Leu) n.2901T>A c.*391T>A (n.*391T>A) n.3244T>A c.*1148T>A (n.*1148T>A) n.3369T>A c.1974T>A (p.Phe658Leu) c.*2438T>A (n.*2438T>A) n.2176T>A c.*2516T>A (n.*2516T>A) c.2823T>A (p.Phe941Leu) n.53T>A n.375T>A c.2781T>A (p.Phe927Leu) c.3045T>A (p.Phe1015Leu) c.2967T>A (p.Phe989Leu) c.2934T>A (p.Phe978Leu) c.2943T>A (p.Phe981Leu) c.1953T>A (p.Phe651Leu) | |
1 | g.154588229_154588230del | CA2586967355 | ADAR | c.2809_2810del (n.2809_2810del) c.2945_2946del (p.Phe982Ter) c.2798_2799del (p.Phe933Ter) c.2567_2568del (p.Phe856Ter) c.2030_2031del (p.Phe677Ter) c.2915_2916del (p.Phe972Ter) c.2837_2838del (p.Phe946Ter) n.2900_2901del c.*390_*391del (n.*390_*391del) n.3243_3244del c.*1147_*1148del (n.*1147_*1148del) n.3368_3369del c.1973_1974del (p.Phe658Ter) c.*2437_*2438del (n.*2437_*2438del) n.2175_2176del c.*2515_*2516del (n.*2515_*2516del) c.2822_2823del (p.Phe941Ter) n.52_53del n.374_375del c.2780_2781del (p.Phe927Ter) c.3044_3045del (p.Phe1015Ter) c.2966_2967del (p.Phe989Ter) c.2933_2934del (p.Phe978Ter) c.2942_2943del (p.Phe981Ter) c.1952_1953del (p.Phe651Ter) | |
1 | g.154588229A>C | CA342636149 | ADAR | c.2809T>G (n.2809T>G) c.2945T>G (p.Phe982Cys) c.2798T>G (p.Phe933Cys) c.2567T>G (p.Phe856Cys) c.2030T>G (p.Phe677Cys) c.2915T>G (p.Phe972Cys) c.2837T>G (p.Phe946Cys) n.2900T>G c.*390T>G (n.*390T>G) n.3243T>G c.*1147T>G (n.*1147T>G) n.3368T>G c.1973T>G (p.Phe658Cys) c.*2437T>G (n.*2437T>G) n.2175T>G c.*2515T>G (n.*2515T>G) c.2822T>G (p.Phe941Cys) n.52T>G n.374T>G c.2780T>G (p.Phe927Cys) c.3044T>G (p.Phe1015Cys) c.2966T>G (p.Phe989Cys) c.2933T>G (p.Phe978Cys) c.2942T>G (p.Phe981Cys) c.1952T>G (p.Phe651Cys) | |
1 | g.154588229A>G | CA342636150 | ADAR | c.2809T>C (n.2809T>C) c.2945T>C (p.Phe982Ser) c.2798T>C (p.Phe933Ser) c.2567T>C (p.Phe856Ser) c.2030T>C (p.Phe677Ser) c.2915T>C (p.Phe972Ser) c.2837T>C (p.Phe946Ser) n.2900T>C c.*390T>C (n.*390T>C) n.3243T>C c.*1147T>C (n.*1147T>C) n.3368T>C c.1973T>C (p.Phe658Ser) c.*2437T>C (n.*2437T>C) n.2175T>C c.*2515T>C (n.*2515T>C) c.2822T>C (p.Phe941Ser) n.52T>C n.374T>C c.2780T>C (p.Phe927Ser) c.3044T>C (p.Phe1015Ser) c.2966T>C (p.Phe989Ser) c.2933T>C (p.Phe978Ser) c.2942T>C (p.Phe981Ser) c.1952T>C (p.Phe651Ser) | gnomAD v4 |
1 | g.154588229A>T | CA342636151 | ADAR | c.2809T>A (n.2809T>A) c.2945T>A (p.Phe982Tyr) c.2798T>A (p.Phe933Tyr) c.2567T>A (p.Phe856Tyr) c.2030T>A (p.Phe677Tyr) c.2915T>A (p.Phe972Tyr) c.2837T>A (p.Phe946Tyr) n.2900T>A c.*390T>A (n.*390T>A) n.3243T>A c.*1147T>A (n.*1147T>A) n.3368T>A c.1973T>A (p.Phe658Tyr) c.*2437T>A (n.*2437T>A) n.2175T>A c.*2515T>A (n.*2515T>A) c.2822T>A (p.Phe941Tyr) n.52T>A n.374T>A c.2780T>A (p.Phe927Tyr) c.3044T>A (p.Phe1015Tyr) c.2966T>A (p.Phe989Tyr) c.2933T>A (p.Phe978Tyr) c.2942T>A (p.Phe981Tyr) c.1952T>A (p.Phe651Tyr) | |
1 | g.154588230A>C | CA342636152 | ADAR | c.2808T>G (n.2808T>G) c.2944T>G (p.Phe982Val) c.2797T>G (p.Phe933Val) c.2566T>G (p.Phe856Val) c.2029T>G (p.Phe677Val) c.2914T>G (p.Phe972Val) c.2836T>G (p.Phe946Val) n.2899T>G c.*389T>G (n.*389T>G) n.3242T>G c.*1146T>G (n.*1146T>G) n.3367T>G c.1972T>G (p.Phe658Val) c.*2436T>G (n.*2436T>G) n.2174T>G c.*2514T>G (n.*2514T>G) c.2821T>G (p.Phe941Val) n.51T>G n.373T>G c.2779T>G (p.Phe927Val) c.3043T>G (p.Phe1015Val) c.2965T>G (p.Phe989Val) c.2932T>G (p.Phe978Val) c.2941T>G (p.Phe981Val) c.1951T>G (p.Phe651Val) | |
1 | g.154588230A>G | CA342636153 | ADAR | c.2808T>C (n.2808T>C) c.2944T>C (p.Phe982Leu) c.2797T>C (p.Phe933Leu) c.2566T>C (p.Phe856Leu) c.2029T>C (p.Phe677Leu) c.2914T>C (p.Phe972Leu) c.2836T>C (p.Phe946Leu) n.2899T>C c.*389T>C (n.*389T>C) n.3242T>C c.*1146T>C (n.*1146T>C) n.3367T>C c.1972T>C (p.Phe658Leu) c.*2436T>C (n.*2436T>C) n.2174T>C c.*2514T>C (n.*2514T>C) c.2821T>C (p.Phe941Leu) n.51T>C n.373T>C c.2779T>C (p.Phe927Leu) c.3043T>C (p.Phe1015Leu) c.2965T>C (p.Phe989Leu) c.2932T>C (p.Phe978Leu) c.2941T>C (p.Phe981Leu) c.1951T>C (p.Phe651Leu) | |
1 | g.154588230A>T | CA342636154 | ADAR | c.2808T>A (n.2808T>A) c.2944T>A (p.Phe982Ile) c.2797T>A (p.Phe933Ile) c.2566T>A (p.Phe856Ile) c.2029T>A (p.Phe677Ile) c.2914T>A (p.Phe972Ile) c.2836T>A (p.Phe946Ile) n.2899T>A c.*389T>A (n.*389T>A) n.3242T>A c.*1146T>A (n.*1146T>A) n.3367T>A c.1972T>A (p.Phe658Ile) c.*2436T>A (n.*2436T>A) n.2174T>A c.*2514T>A (n.*2514T>A) c.2821T>A (p.Phe941Ile) n.51T>A n.373T>A c.2779T>A (p.Phe927Ile) c.3043T>A (p.Phe1015Ile) c.2965T>A (p.Phe989Ile) c.2932T>A (p.Phe978Ile) c.2941T>A (p.Phe981Ile) c.1951T>A (p.Phe651Ile) | |
1 | g.154588231G>A | CA421231970 | ADAR | c.2807C>T (n.2807C>T) c.2943C>T (p.Leu981=) c.2796C>T (p.Leu932=) c.2565C>T (p.Leu855=) c.2028C>T (p.Leu676=) c.2913C>T (p.Leu971=) c.2835C>T (p.Leu945=) n.2898C>T c.*388C>T (n.*388C>T) n.3241C>T c.*1145C>T (n.*1145C>T) n.3366C>T c.1971C>T (p.Leu657=) c.*2435C>T (n.*2435C>T) n.2173C>T c.*2513C>T (n.*2513C>T) c.2820C>T (p.Leu940=) n.50C>T n.372C>T c.2778C>T (p.Leu926=) c.3042C>T (p.Leu1014=) c.2964C>T (p.Leu988=) c.2931C>T (p.Leu977=) c.2940C>T (p.Leu980=) c.1950C>T (p.Leu650=) | gnomAD v4 |
1 | g.154588231G>C | CA421231971 | ADAR | c.2807C>G (n.2807C>G) c.2943C>G (p.Leu981=) c.2796C>G (p.Leu932=) c.2565C>G (p.Leu855=) c.2028C>G (p.Leu676=) c.2913C>G (p.Leu971=) c.2835C>G (p.Leu945=) n.2898C>G c.*388C>G (n.*388C>G) n.3241C>G c.*1145C>G (n.*1145C>G) n.3366C>G c.1971C>G (p.Leu657=) c.*2435C>G (n.*2435C>G) n.2173C>G c.*2513C>G (n.*2513C>G) c.2820C>G (p.Leu940=) n.50C>G n.372C>G c.2778C>G (p.Leu926=) c.3042C>G (p.Leu1014=) c.2964C>G (p.Leu988=) c.2931C>G (p.Leu977=) c.2940C>G (p.Leu980=) c.1950C>G (p.Leu650=) | dbSNP |
1 | g.154588231G= | CA2480932544 | ADAR | c.2807C= (n.2807C=) c.2943C= (p.Leu981=) c.2796C= (p.Leu932=) c.2565C= (p.Leu855=) c.2028C= (p.Leu676=) c.2913C= (p.Leu971=) c.2835C= (p.Leu945=) n.2898C= c.*388C= (n.*388C=) n.3241C= c.*1145C= (n.*1145C=) n.3366C= c.1971C= (p.Leu657=) c.*2435C= (n.*2435C=) n.2173C= c.*2513C= (n.*2513C=) c.2820C= (p.Leu940=) n.50C= n.372C= c.2778C= (p.Leu926=) c.3042C= (p.Leu1014=) c.2964C= (p.Leu988=) c.2931C= (p.Leu977=) c.2940C= (p.Leu980=) c.1950C= (p.Leu650=) | |
1 | g.154588231G>T | CA421231972 | ADAR | c.2807C>A (n.2807C>A) c.2943C>A (p.Leu981=) c.2796C>A (p.Leu932=) c.2565C>A (p.Leu855=) c.2028C>A (p.Leu676=) c.2913C>A (p.Leu971=) c.2835C>A (p.Leu945=) n.2898C>A c.*388C>A (n.*388C>A) n.3241C>A c.*1145C>A (n.*1145C>A) n.3366C>A c.1971C>A (p.Leu657=) c.*2435C>A (n.*2435C>A) n.2173C>A c.*2513C>A (n.*2513C>A) c.2820C>A (p.Leu940=) n.50C>A n.372C>A c.2778C>A (p.Leu926=) c.3042C>A (p.Leu1014=) c.2964C>A (p.Leu988=) c.2931C>A (p.Leu977=) c.2940C>A (p.Leu980=) c.1950C>A (p.Leu650=) | |
1 | g.154588232A>C | CA342636155 | ADAR | c.2806T>G (n.2806T>G) c.2942T>G (p.Leu981Arg) c.2795T>G (p.Leu932Arg) c.2564T>G (p.Leu855Arg) c.2027T>G (p.Leu676Arg) c.2912T>G (p.Leu971Arg) c.2834T>G (p.Leu945Arg) n.2897T>G c.*387T>G (n.*387T>G) n.3240T>G c.*1144T>G (n.*1144T>G) n.3365T>G c.1970T>G (p.Leu657Arg) c.*2434T>G (n.*2434T>G) n.2172T>G c.*2512T>G (n.*2512T>G) c.2819T>G (p.Leu940Arg) n.49T>G n.371T>G c.2777T>G (p.Leu926Arg) c.3041T>G (p.Leu1014Arg) c.2963T>G (p.Leu988Arg) c.2930T>G (p.Leu977Arg) c.2939T>G (p.Leu980Arg) c.1949T>G (p.Leu650Arg) | ClinVar |
1 | g.154588232A>G | CA342636157 | ADAR | c.2806T>C (n.2806T>C) c.2942T>C (p.Leu981Pro) c.2795T>C (p.Leu932Pro) c.2564T>C (p.Leu855Pro) c.2027T>C (p.Leu676Pro) c.2912T>C (p.Leu971Pro) c.2834T>C (p.Leu945Pro) n.2897T>C c.*387T>C (n.*387T>C) n.3240T>C c.*1144T>C (n.*1144T>C) n.3365T>C c.1970T>C (p.Leu657Pro) c.*2434T>C (n.*2434T>C) n.2172T>C c.*2512T>C (n.*2512T>C) c.2819T>C (p.Leu940Pro) n.49T>C n.371T>C c.2777T>C (p.Leu926Pro) c.3041T>C (p.Leu1014Pro) c.2963T>C (p.Leu988Pro) c.2930T>C (p.Leu977Pro) c.2939T>C (p.Leu980Pro) c.1949T>C (p.Leu650Pro) | |
1 | g.154588232A>T | CA342636156 | ADAR | c.2806T>A (n.2806T>A) c.2942T>A (p.Leu981His) c.2795T>A (p.Leu932His) c.2564T>A (p.Leu855His) c.2027T>A (p.Leu676His) c.2912T>A (p.Leu971His) c.2834T>A (p.Leu945His) n.2897T>A c.*387T>A (n.*387T>A) n.3240T>A c.*1144T>A (n.*1144T>A) n.3365T>A c.1970T>A (p.Leu657His) c.*2434T>A (n.*2434T>A) n.2172T>A c.*2512T>A (n.*2512T>A) c.2819T>A (p.Leu940His) n.49T>A n.371T>A c.2777T>A (p.Leu926His) c.3041T>A (p.Leu1014His) c.2963T>A (p.Leu988His) c.2930T>A (p.Leu977His) c.2939T>A (p.Leu980His) c.1949T>A (p.Leu650His) | |
1 | g.154588233G>A | CA342636158 | ADAR | c.2805C>T (n.2805C>T) c.2941C>T (p.Leu981Phe) c.2794C>T (p.Leu932Phe) c.2563C>T (p.Leu855Phe) c.2026C>T (p.Leu676Phe) c.2911C>T (p.Leu971Phe) c.2833C>T (p.Leu945Phe) n.2896C>T c.*386C>T (n.*386C>T) n.3239C>T c.*1143C>T (n.*1143C>T) n.3364C>T c.1969C>T (p.Leu657Phe) c.*2433C>T (n.*2433C>T) n.2171C>T c.*2511C>T (n.*2511C>T) c.2818C>T (p.Leu940Phe) n.48C>T n.370C>T c.2776C>T (p.Leu926Phe) c.3040C>T (p.Leu1014Phe) c.2962C>T (p.Leu988Phe) c.2929C>T (p.Leu977Phe) c.2938C>T (p.Leu980Phe) c.1948C>T (p.Leu650Phe) | gnomAD v4 |
1 | g.154588233G>C | CA342636159 | ADAR | c.2805C>G (n.2805C>G) c.2941C>G (p.Leu981Val) c.2794C>G (p.Leu932Val) c.2563C>G (p.Leu855Val) c.2026C>G (p.Leu676Val) c.2911C>G (p.Leu971Val) c.2833C>G (p.Leu945Val) n.2896C>G c.*386C>G (n.*386C>G) n.3239C>G c.*1143C>G (n.*1143C>G) n.3364C>G c.1969C>G (p.Leu657Val) c.*2433C>G (n.*2433C>G) n.2171C>G c.*2511C>G (n.*2511C>G) c.2818C>G (p.Leu940Val) n.48C>G n.370C>G c.2776C>G (p.Leu926Val) c.3040C>G (p.Leu1014Val) c.2962C>G (p.Leu988Val) c.2929C>G (p.Leu977Val) c.2938C>G (p.Leu980Val) c.1948C>G (p.Leu650Val) | |
1 | g.154588233G>T | CA342636160 | ADAR | c.2805C>A (n.2805C>A) c.2941C>A (p.Leu981Ile) c.2794C>A (p.Leu932Ile) c.2563C>A (p.Leu855Ile) c.2026C>A (p.Leu676Ile) c.2911C>A (p.Leu971Ile) c.2833C>A (p.Leu945Ile) n.2896C>A c.*386C>A (n.*386C>A) n.3239C>A c.*1143C>A (n.*1143C>A) n.3364C>A c.1969C>A (p.Leu657Ile) c.*2433C>A (n.*2433C>A) n.2171C>A c.*2511C>A (n.*2511C>A) c.2818C>A (p.Leu940Ile) n.48C>A n.370C>A c.2776C>A (p.Leu926Ile) c.3040C>A (p.Leu1014Ile) c.2962C>A (p.Leu988Ile) c.2929C>A (p.Leu977Ile) c.2938C>A (p.Leu980Ile) c.1948C>A (p.Leu650Ile) | |
1 | g.154588234G>A | CA421231973 | ADAR | c.2804C>T (n.2804C>T) c.2940C>T (p.Ala980=) c.2793C>T (p.Ala931=) c.2562C>T (p.Ala854=) c.2025C>T (p.Ala675=) c.2910C>T (p.Ala970=) c.2832C>T (p.Ala944=) n.2895C>T c.*385C>T (n.*385C>T) n.3238C>T c.*1142C>T (n.*1142C>T) n.3363C>T c.1968C>T (p.Ala656=) c.*2432C>T (n.*2432C>T) n.2170C>T c.*2510C>T (n.*2510C>T) c.2817C>T (p.Ala939=) n.47C>T n.369C>T c.2775C>T (p.Ala925=) c.3039C>T (p.Ala1013=) c.2961C>T (p.Ala987=) c.2928C>T (p.Ala976=) c.2937C>T (p.Ala979=) c.1947C>T (p.Ala649=) | gnomAD v4 COSMIC COSMIC |
1 | g.154588234G>C | CA421231974 | ADAR | c.2804C>G (n.2804C>G) c.2940C>G (p.Ala980=) c.2793C>G (p.Ala931=) c.2562C>G (p.Ala854=) c.2025C>G (p.Ala675=) c.2910C>G (p.Ala970=) c.2832C>G (p.Ala944=) n.2895C>G c.*385C>G (n.*385C>G) n.3238C>G c.*1142C>G (n.*1142C>G) n.3363C>G c.1968C>G (p.Ala656=) c.*2432C>G (n.*2432C>G) n.2170C>G c.*2510C>G (n.*2510C>G) c.2817C>G (p.Ala939=) n.47C>G n.369C>G c.2775C>G (p.Ala925=) c.3039C>G (p.Ala1013=) c.2961C>G (p.Ala987=) c.2928C>G (p.Ala976=) c.2937C>G (p.Ala979=) c.1947C>G (p.Ala649=) | gnomAD v4 |
1 | g.154588234G>T | CA421231975 | ADAR | c.2804C>A (n.2804C>A) c.2940C>A (p.Ala980=) c.2793C>A (p.Ala931=) c.2562C>A (p.Ala854=) c.2025C>A (p.Ala675=) c.2910C>A (p.Ala970=) c.2832C>A (p.Ala944=) n.2895C>A c.*385C>A (n.*385C>A) n.3238C>A c.*1142C>A (n.*1142C>A) n.3363C>A c.1968C>A (p.Ala656=) c.*2432C>A (n.*2432C>A) n.2170C>A c.*2510C>A (n.*2510C>A) c.2817C>A (p.Ala939=) n.47C>A n.369C>A c.2775C>A (p.Ala925=) c.3039C>A (p.Ala1013=) c.2961C>A (p.Ala987=) c.2928C>A (p.Ala976=) c.2937C>A (p.Ala979=) c.1947C>A (p.Ala649=) | |
1 | g.154588235G>A | CA342636161 | ADAR | c.2803C>T (n.2803C>T) c.2939C>T (p.Ala980Val) c.2792C>T (p.Ala931Val) c.2561C>T (p.Ala854Val) c.2024C>T (p.Ala675Val) c.2909C>T (p.Ala970Val) c.2831C>T (p.Ala944Val) n.2894C>T c.*384C>T (n.*384C>T) n.3237C>T c.*1141C>T (n.*1141C>T) n.3362C>T c.1967C>T (p.Ala656Val) c.*2431C>T (n.*2431C>T) n.2169C>T c.*2509C>T (n.*2509C>T) c.2816C>T (p.Ala939Val) n.46C>T n.368C>T c.2774C>T (p.Ala925Val) c.3038C>T (p.Ala1013Val) c.2960C>T (p.Ala987Val) c.2927C>T (p.Ala976Val) c.2936C>T (p.Ala979Val) c.1946C>T (p.Ala649Val) | |
1 | g.154588235G>C | CA342636162 | ADAR | c.2803C>G (n.2803C>G) c.2939C>G (p.Ala980Gly) c.2792C>G (p.Ala931Gly) c.2561C>G (p.Ala854Gly) c.2024C>G (p.Ala675Gly) c.2909C>G (p.Ala970Gly) c.2831C>G (p.Ala944Gly) n.2894C>G c.*384C>G (n.*384C>G) n.3237C>G c.*1141C>G (n.*1141C>G) n.3362C>G c.1967C>G (p.Ala656Gly) c.*2431C>G (n.*2431C>G) n.2169C>G c.*2509C>G (n.*2509C>G) c.2816C>G (p.Ala939Gly) n.46C>G n.368C>G c.2774C>G (p.Ala925Gly) c.3038C>G (p.Ala1013Gly) c.2960C>G (p.Ala987Gly) c.2927C>G (p.Ala976Gly) c.2936C>G (p.Ala979Gly) c.1946C>G (p.Ala649Gly) | |
1 | g.154588235G>T | CA342636163 | ADAR | c.2803C>A (n.2803C>A) c.2939C>A (p.Ala980Asp) c.2792C>A (p.Ala931Asp) c.2561C>A (p.Ala854Asp) c.2024C>A (p.Ala675Asp) c.2909C>A (p.Ala970Asp) c.2831C>A (p.Ala944Asp) n.2894C>A c.*384C>A (n.*384C>A) n.3237C>A c.*1141C>A (n.*1141C>A) n.3362C>A c.1967C>A (p.Ala656Asp) c.*2431C>A (n.*2431C>A) n.2169C>A c.*2509C>A (n.*2509C>A) c.2816C>A (p.Ala939Asp) n.46C>A n.368C>A c.2774C>A (p.Ala925Asp) c.3038C>A (p.Ala1013Asp) c.2960C>A (p.Ala987Asp) c.2927C>A (p.Ala976Asp) c.2936C>A (p.Ala979Asp) c.1946C>A (p.Ala649Asp) | |
1 | g.154588236C>A | CA342636164 | ADAR | c.2802G>T (n.2802G>T) c.2938G>T (p.Ala980Ser) c.2791G>T (p.Ala931Ser) c.2560G>T (p.Ala854Ser) c.2023G>T (p.Ala675Ser) c.2908G>T (p.Ala970Ser) c.2830G>T (p.Ala944Ser) n.2893G>T c.*383G>T (n.*383G>T) n.3236G>T c.*1140G>T (n.*1140G>T) n.3361G>T c.1966G>T (p.Ala656Ser) c.*2430G>T (n.*2430G>T) n.2168G>T c.*2508G>T (n.*2508G>T) c.2815G>T (p.Ala939Ser) n.45G>T n.367G>T c.2773G>T (p.Ala925Ser) c.3037G>T (p.Ala1013Ser) c.2959G>T (p.Ala987Ser) c.2926G>T (p.Ala976Ser) c.2935G>T (p.Ala979Ser) c.1945G>T (p.Ala649Ser) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.154588236C= | CA2480932545 | ADAR | c.2802G= (n.2802G=) c.2938G= (p.Ala980=) c.2791G= (p.Ala931=) c.2560G= (p.Ala854=) c.2023G= (p.Ala675=) c.2908G= (p.Ala970=) c.2830G= (p.Ala944=) n.2893G= c.*383G= (n.*383G=) n.3236G= c.*1140G= (n.*1140G=) n.3361G= c.1966G= (p.Ala656=) c.*2430G= (n.*2430G=) n.2168G= c.*2508G= (n.*2508G=) c.2815G= (p.Ala939=) n.45G= n.367G= c.2773G= (p.Ala925=) c.3037G= (p.Ala1013=) c.2959G= (p.Ala987=) c.2926G= (p.Ala976=) c.2935G= (p.Ala979=) c.1945G= (p.Ala649=) | |
1 | g.154588236C>G | CA342636165 | ADAR | c.2802G>C (n.2802G>C) c.2938G>C (p.Ala980Pro) c.2791G>C (p.Ala931Pro) c.2560G>C (p.Ala854Pro) c.2023G>C (p.Ala675Pro) c.2908G>C (p.Ala970Pro) c.2830G>C (p.Ala944Pro) n.2893G>C c.*383G>C (n.*383G>C) n.3236G>C c.*1140G>C (n.*1140G>C) n.3361G>C c.1966G>C (p.Ala656Pro) c.*2430G>C (n.*2430G>C) n.2168G>C c.*2508G>C (n.*2508G>C) c.2815G>C (p.Ala939Pro) n.45G>C n.367G>C c.2773G>C (p.Ala925Pro) c.3037G>C (p.Ala1013Pro) c.2959G>C (p.Ala987Pro) c.2926G>C (p.Ala976Pro) c.2935G>C (p.Ala979Pro) c.1945G>C (p.Ala649Pro) | |
1 | g.154588236C>T | CA1131103 | ADAR | c.2802G>A (n.2802G>A) c.2938G>A (p.Ala980Thr) c.2791G>A (p.Ala931Thr) c.2560G>A (p.Ala854Thr) c.2023G>A (p.Ala675Thr) c.2908G>A (p.Ala970Thr) c.2830G>A (p.Ala944Thr) n.2893G>A c.*383G>A (n.*383G>A) n.3236G>A c.*1140G>A (n.*1140G>A) n.3361G>A c.1966G>A (p.Ala656Thr) c.*2430G>A (n.*2430G>A) n.2168G>A c.*2508G>A (n.*2508G>A) c.2815G>A (p.Ala939Thr) n.45G>A n.367G>A c.2773G>A (p.Ala925Thr) c.3037G>A (p.Ala1013Thr) c.2959G>A (p.Ala987Thr) c.2926G>A (p.Ala976Thr) c.2935G>A (p.Ala979Thr) c.1945G>A (p.Ala649Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.154588237G>A | CA1131104 | ADAR | c.2801C>T (n.2801C>T) c.2937C>T (p.Gly979=) c.2790C>T (p.Gly930=) c.2559C>T (p.Gly853=) c.2022C>T (p.Gly674=) c.2907C>T (p.Gly969=) c.2829C>T (p.Gly943=) n.2892C>T c.*382C>T (n.*382C>T) n.3235C>T c.*1139C>T (n.*1139C>T) n.3360C>T c.1965C>T (p.Gly655=) c.*2429C>T (n.*2429C>T) n.2167C>T c.*2507C>T (n.*2507C>T) c.2814C>T (p.Gly938=) n.44C>T n.366C>T c.2772C>T (p.Gly924=) c.3036C>T (p.Gly1012=) c.2958C>T (p.Gly986=) c.2925C>T (p.Gly975=) c.2934C>T (p.Gly978=) c.1944C>T (p.Gly648=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.154588237G>C | CA421231976 | ADAR | c.2801C>G (n.2801C>G) c.2937C>G (p.Gly979=) c.2790C>G (p.Gly930=) c.2559C>G (p.Gly853=) c.2022C>G (p.Gly674=) c.2907C>G (p.Gly969=) c.2829C>G (p.Gly943=) n.2892C>G c.*382C>G (n.*382C>G) n.3235C>G c.*1139C>G (n.*1139C>G) n.3360C>G c.1965C>G (p.Gly655=) c.*2429C>G (n.*2429C>G) n.2167C>G c.*2507C>G (n.*2507C>G) c.2814C>G (p.Gly938=) n.44C>G n.366C>G c.2772C>G (p.Gly924=) c.3036C>G (p.Gly1012=) c.2958C>G (p.Gly986=) c.2925C>G (p.Gly975=) c.2934C>G (p.Gly978=) c.1944C>G (p.Gly648=) | |
1 | g.154588237G= | CA1142808790 | ADAR | c.2801C= (n.2801C=) c.2937C= (p.Gly979=) c.2790C= (p.Gly930=) c.2559C= (p.Gly853=) c.2022C= (p.Gly674=) c.2907C= (p.Gly969=) c.2829C= (p.Gly943=) n.2892C= c.*382C= (n.*382C=) n.3235C= c.*1139C= (n.*1139C=) n.3360C= c.1965C= (p.Gly655=) c.*2429C= (n.*2429C=) n.2167C= c.*2507C= (n.*2507C=) c.2814C= (p.Gly938=) n.44C= n.366C= c.2772C= (p.Gly924=) c.3036C= (p.Gly1012=) c.2958C= (p.Gly986=) c.2925C= (p.Gly975=) c.2934C= (p.Gly978=) c.1944C= (p.Gly648=) | |
1 | g.154588237G>T | CA421231977 | ADAR | c.2801C>A (n.2801C>A) c.2937C>A (p.Gly979=) c.2790C>A (p.Gly930=) c.2559C>A (p.Gly853=) c.2022C>A (p.Gly674=) c.2907C>A (p.Gly969=) c.2829C>A (p.Gly943=) n.2892C>A c.*382C>A (n.*382C>A) n.3235C>A c.*1139C>A (n.*1139C>A) n.3360C>A c.1965C>A (p.Gly655=) c.*2429C>A (n.*2429C>A) n.2167C>A c.*2507C>A (n.*2507C>A) c.2814C>A (p.Gly938=) n.44C>A n.366C>A c.2772C>A (p.Gly924=) c.3036C>A (p.Gly1012=) c.2958C>A (p.Gly986=) c.2925C>A (p.Gly975=) c.2934C>A (p.Gly978=) c.1944C>A (p.Gly648=) | dbSNP |
1 | g.154588238C>A | CA342636167 | ADAR | c.2800G>T (n.2800G>T) c.2936G>T (p.Gly979Val) c.2789G>T (p.Gly930Val) c.2558G>T (p.Gly853Val) c.2021G>T (p.Gly674Val) c.2906G>T (p.Gly969Val) c.2828G>T (p.Gly943Val) n.2891G>T c.*381G>T (n.*381G>T) n.3234G>T c.*1138G>T (n.*1138G>T) n.3359G>T c.1964G>T (p.Gly655Val) c.*2428G>T (n.*2428G>T) n.2166G>T c.*2506G>T (n.*2506G>T) c.2813G>T (p.Gly938Val) n.43G>T n.365G>T c.2771G>T (p.Gly924Val) c.3035G>T (p.Gly1012Val) c.2957G>T (p.Gly986Val) c.2924G>T (p.Gly975Val) c.2933G>T (p.Gly978Val) c.1943G>T (p.Gly648Val) | |
1 | g.154588238C>G | CA342636168 | ADAR | c.2800G>C (n.2800G>C) c.2936G>C (p.Gly979Ala) c.2789G>C (p.Gly930Ala) c.2558G>C (p.Gly853Ala) c.2021G>C (p.Gly674Ala) c.2906G>C (p.Gly969Ala) c.2828G>C (p.Gly943Ala) n.2891G>C c.*381G>C (n.*381G>C) n.3234G>C c.*1138G>C (n.*1138G>C) n.3359G>C c.1964G>C (p.Gly655Ala) c.*2428G>C (n.*2428G>C) n.2166G>C c.*2506G>C (n.*2506G>C) c.2813G>C (p.Gly938Ala) n.43G>C n.365G>C c.2771G>C (p.Gly924Ala) c.3035G>C (p.Gly1012Ala) c.2957G>C (p.Gly986Ala) c.2924G>C (p.Gly975Ala) c.2933G>C (p.Gly978Ala) c.1943G>C (p.Gly648Ala) | |
1 | g.154588238C>T | CA342636166 | ADAR | c.2800G>A (n.2800G>A) c.2936G>A (p.Gly979Asp) c.2789G>A (p.Gly930Asp) c.2558G>A (p.Gly853Asp) c.2021G>A (p.Gly674Asp) c.2906G>A (p.Gly969Asp) c.2828G>A (p.Gly943Asp) n.2891G>A c.*381G>A (n.*381G>A) n.3234G>A c.*1138G>A (n.*1138G>A) n.3359G>A c.1964G>A (p.Gly655Asp) c.*2428G>A (n.*2428G>A) n.2166G>A c.*2506G>A (n.*2506G>A) c.2813G>A (p.Gly938Asp) n.43G>A n.365G>A c.2771G>A (p.Gly924Asp) c.3035G>A (p.Gly1012Asp) c.2957G>A (p.Gly986Asp) c.2924G>A (p.Gly975Asp) c.2933G>A (p.Gly978Asp) c.1943G>A (p.Gly648Asp) | |
1 | g.154588239C>A | CA342636169 | ADAR | c.2799G>T (n.2799G>T) c.2935G>T (p.Gly979Cys) c.2788G>T (p.Gly930Cys) c.2557G>T (p.Gly853Cys) c.2020G>T (p.Gly674Cys) c.2905G>T (p.Gly969Cys) c.2827G>T (p.Gly943Cys) n.2890G>T c.*380G>T (n.*380G>T) n.3233G>T c.*1137G>T (n.*1137G>T) n.3358G>T c.1963G>T (p.Gly655Cys) c.*2427G>T (n.*2427G>T) n.2165G>T c.*2505G>T (n.*2505G>T) c.2812G>T (p.Gly938Cys) n.42G>T n.364G>T c.2770G>T (p.Gly924Cys) c.3034G>T (p.Gly1012Cys) c.2956G>T (p.Gly986Cys) c.2923G>T (p.Gly975Cys) c.2932G>T (p.Gly978Cys) c.1942G>T (p.Gly648Cys) | |
1 | g.154588239C>G | CA342636170 | ADAR | c.2799G>C (n.2799G>C) c.2935G>C (p.Gly979Arg) c.2788G>C (p.Gly930Arg) c.2557G>C (p.Gly853Arg) c.2020G>C (p.Gly674Arg) c.2905G>C (p.Gly969Arg) c.2827G>C (p.Gly943Arg) n.2890G>C c.*380G>C (n.*380G>C) n.3233G>C c.*1137G>C (n.*1137G>C) n.3358G>C c.1963G>C (p.Gly655Arg) c.*2427G>C (n.*2427G>C) n.2165G>C c.*2505G>C (n.*2505G>C) c.2812G>C (p.Gly938Arg) n.42G>C n.364G>C c.2770G>C (p.Gly924Arg) c.3034G>C (p.Gly1012Arg) c.2956G>C (p.Gly986Arg) c.2923G>C (p.Gly975Arg) c.2932G>C (p.Gly978Arg) c.1942G>C (p.Gly648Arg) | |
1 | g.154588239C>T | CA342636171 | ADAR | c.2799G>A (n.2799G>A) c.2935G>A (p.Gly979Ser) c.2788G>A (p.Gly930Ser) c.2557G>A (p.Gly853Ser) c.2020G>A (p.Gly674Ser) c.2905G>A (p.Gly969Ser) c.2827G>A (p.Gly943Ser) n.2890G>A c.*380G>A (n.*380G>A) n.3233G>A c.*1137G>A (n.*1137G>A) n.3358G>A c.1963G>A (p.Gly655Ser) c.*2427G>A (n.*2427G>A) n.2165G>A c.*2505G>A (n.*2505G>A) c.2812G>A (p.Gly938Ser) n.42G>A n.364G>A c.2770G>A (p.Gly924Ser) c.3034G>A (p.Gly1012Ser) c.2956G>A (p.Gly986Ser) c.2923G>A (p.Gly975Ser) c.2932G>A (p.Gly978Ser) c.1942G>A (p.Gly648Ser) | |
1 | g.154588240A>C | CA342636172 | ADAR | c.2798T>G (n.2798T>G) c.2934T>G (p.Asp978Glu) c.2787T>G (p.Asp929Glu) c.2556T>G (p.Asp852Glu) c.2019T>G (p.Asp673Glu) c.2904T>G (p.Asp968Glu) c.2826T>G (p.Asp942Glu) n.2889T>G c.*379T>G (n.*379T>G) n.3232T>G c.*1136T>G (n.*1136T>G) n.3357T>G c.1962T>G (p.Asp654Glu) c.*2426T>G (n.*2426T>G) n.2164T>G c.*2504T>G (n.*2504T>G) c.2811T>G (p.Asp937Glu) n.41T>G n.363T>G c.2769T>G (p.Asp923Glu) c.3033T>G (p.Asp1011Glu) c.2955T>G (p.Asp985Glu) c.2922T>G (p.Asp974Glu) c.2931T>G (p.Asp977Glu) c.1941T>G (p.Asp647Glu) | |
1 | g.154588240A>G | CA421231980 | ADAR | c.2798T>C (n.2798T>C) c.2934T>C (p.Asp978=) c.2787T>C (p.Asp929=) c.2556T>C (p.Asp852=) c.2019T>C (p.Asp673=) c.2904T>C (p.Asp968=) c.2826T>C (p.Asp942=) n.2889T>C c.*379T>C (n.*379T>C) n.3232T>C c.*1136T>C (n.*1136T>C) n.3357T>C c.1962T>C (p.Asp654=) c.*2426T>C (n.*2426T>C) n.2164T>C c.*2504T>C (n.*2504T>C) c.2811T>C (p.Asp937=) n.41T>C n.363T>C c.2769T>C (p.Asp923=) c.3033T>C (p.Asp1011=) c.2955T>C (p.Asp985=) c.2922T>C (p.Asp974=) c.2931T>C (p.Asp977=) c.1941T>C (p.Asp647=) | |
1 | g.154588240A>T | CA342636173 | ADAR | c.2798T>A (n.2798T>A) c.2934T>A (p.Asp978Glu) c.2787T>A (p.Asp929Glu) c.2556T>A (p.Asp852Glu) c.2019T>A (p.Asp673Glu) c.2904T>A (p.Asp968Glu) c.2826T>A (p.Asp942Glu) n.2889T>A c.*379T>A (n.*379T>A) n.3232T>A c.*1136T>A (n.*1136T>A) n.3357T>A c.1962T>A (p.Asp654Glu) c.*2426T>A (n.*2426T>A) n.2164T>A c.*2504T>A (n.*2504T>A) c.2811T>A (p.Asp937Glu) n.41T>A n.363T>A c.2769T>A (p.Asp923Glu) c.3033T>A (p.Asp1011Glu) c.2955T>A (p.Asp985Glu) c.2922T>A (p.Asp974Glu) c.2931T>A (p.Asp977Glu) c.1941T>A (p.Asp647Glu) | |
1 | g.154588241T>A | CA342636176 | ADAR | c.2797A>T (n.2797A>T) c.2933A>T (p.Asp978Val) c.2786A>T (p.Asp929Val) c.2555A>T (p.Asp852Val) c.2018A>T (p.Asp673Val) c.2903A>T (p.Asp968Val) c.2825A>T (p.Asp942Val) n.2888A>T c.*378A>T (n.*378A>T) n.3231A>T c.*1135A>T (n.*1135A>T) n.3356A>T c.1961A>T (p.Asp654Val) c.*2425A>T (n.*2425A>T) n.2163A>T c.*2503A>T (n.*2503A>T) c.2810A>T (p.Asp937Val) n.40A>T n.362A>T c.2768A>T (p.Asp923Val) c.3032A>T (p.Asp1011Val) c.2954A>T (p.Asp985Val) c.2921A>T (p.Asp974Val) c.2930A>T (p.Asp977Val) c.1940A>T (p.Asp647Val) | |
1 | g.154588241T>C | CA342636175 | ADAR | c.2797A>G (n.2797A>G) c.2933A>G (p.Asp978Gly) c.2786A>G (p.Asp929Gly) c.2555A>G (p.Asp852Gly) c.2018A>G (p.Asp673Gly) c.2903A>G (p.Asp968Gly) c.2825A>G (p.Asp942Gly) n.2888A>G c.*378A>G (n.*378A>G) n.3231A>G c.*1135A>G (n.*1135A>G) n.3356A>G c.1961A>G (p.Asp654Gly) c.*2425A>G (n.*2425A>G) n.2163A>G c.*2503A>G (n.*2503A>G) c.2810A>G (p.Asp937Gly) n.40A>G n.362A>G c.2768A>G (p.Asp923Gly) c.3032A>G (p.Asp1011Gly) c.2954A>G (p.Asp985Gly) c.2921A>G (p.Asp974Gly) c.2930A>G (p.Asp977Gly) c.1940A>G (p.Asp647Gly) | |
1 | g.154588241T>G | CA342636174 | ADAR | c.2797A>C (n.2797A>C) c.2933A>C (p.Asp978Ala) c.2786A>C (p.Asp929Ala) c.2555A>C (p.Asp852Ala) c.2018A>C (p.Asp673Ala) c.2903A>C (p.Asp968Ala) c.2825A>C (p.Asp942Ala) n.2888A>C c.*378A>C (n.*378A>C) n.3231A>C c.*1135A>C (n.*1135A>C) n.3356A>C c.1961A>C (p.Asp654Ala) c.*2425A>C (n.*2425A>C) n.2163A>C c.*2503A>C (n.*2503A>C) c.2810A>C (p.Asp937Ala) n.40A>C n.362A>C c.2768A>C (p.Asp923Ala) c.3032A>C (p.Asp1011Ala) c.2954A>C (p.Asp985Ala) c.2921A>C (p.Asp974Ala) c.2930A>C (p.Asp977Ala) c.1940A>C (p.Asp647Ala) | |
1 | g.154588242C>A | CA342636177 | ADAR | c.2796G>T (n.2796G>T) c.2932G>T (p.Asp978Tyr) c.2785G>T (p.Asp929Tyr) c.2554G>T (p.Asp852Tyr) c.2017G>T (p.Asp673Tyr) c.2902G>T (p.Asp968Tyr) c.2824G>T (p.Asp942Tyr) n.2887G>T c.*377G>T (n.*377G>T) n.3230G>T c.*1134G>T (n.*1134G>T) n.3355G>T c.1960G>T (p.Asp654Tyr) c.*2424G>T (n.*2424G>T) n.2162G>T c.*2502G>T (n.*2502G>T) c.2809G>T (p.Asp937Tyr) n.39G>T n.361G>T c.2767G>T (p.Asp923Tyr) c.3031G>T (p.Asp1011Tyr) c.2953G>T (p.Asp985Tyr) c.2920G>T (p.Asp974Tyr) c.2929G>T (p.Asp977Tyr) c.1939G>T (p.Asp647Tyr) | |
1 | g.154588242C>G | CA342636178 | ADAR | c.2796G>C (n.2796G>C) c.2932G>C (p.Asp978His) c.2785G>C (p.Asp929His) c.2554G>C (p.Asp852His) c.2017G>C (p.Asp673His) c.2902G>C (p.Asp968His) c.2824G>C (p.Asp942His) n.2887G>C c.*377G>C (n.*377G>C) n.3230G>C c.*1134G>C (n.*1134G>C) n.3355G>C c.1960G>C (p.Asp654His) c.*2424G>C (n.*2424G>C) n.2162G>C c.*2502G>C (n.*2502G>C) c.2809G>C (p.Asp937His) n.39G>C n.361G>C c.2767G>C (p.Asp923His) c.3031G>C (p.Asp1011His) c.2953G>C (p.Asp985His) c.2920G>C (p.Asp974His) c.2929G>C (p.Asp977His) c.1939G>C (p.Asp647His) | |
1 | g.154588242C>T | CA342636179 | ADAR | c.2796G>A (n.2796G>A) c.2932G>A (p.Asp978Asn) c.2785G>A (p.Asp929Asn) c.2554G>A (p.Asp852Asn) c.2017G>A (p.Asp673Asn) c.2902G>A (p.Asp968Asn) c.2824G>A (p.Asp942Asn) n.2887G>A c.*377G>A (n.*377G>A) n.3230G>A c.*1134G>A (n.*1134G>A) n.3355G>A c.1960G>A (p.Asp654Asn) c.*2424G>A (n.*2424G>A) n.2162G>A c.*2502G>A (n.*2502G>A) c.2809G>A (p.Asp937Asn) n.39G>A n.361G>A c.2767G>A (p.Asp923Asn) c.3031G>A (p.Asp1011Asn) c.2953G>A (p.Asp985Asn) c.2920G>A (p.Asp974Asn) c.2929G>A (p.Asp977Asn) c.1939G>A (p.Asp647Asn) | |
1 | g.154588243T>A | CA421231984 | ADAR | c.2795A>T (n.2795A>T) c.2931A>T (p.Gly977=) c.2784A>T (p.Gly928=) c.2553A>T (p.Gly851=) c.2016A>T (p.Gly672=) c.2901A>T (p.Gly967=) c.2823A>T (p.Gly941=) n.2886A>T c.*376A>T (n.*376A>T) n.3229A>T c.*1133A>T (n.*1133A>T) n.3354A>T c.1959A>T (p.Gly653=) c.*2423A>T (n.*2423A>T) n.2161A>T c.*2501A>T (n.*2501A>T) c.2808A>T (p.Gly936=) n.38A>T n.360A>T c.2766A>T (p.Gly922=) c.3030A>T (p.Gly1010=) c.2952A>T (p.Gly984=) c.2919A>T (p.Gly973=) c.2928A>T (p.Gly976=) c.1938A>T (p.Gly646=) | |
1 | g.154588243T>C | CA421231983 | ADAR | c.2795A>G (n.2795A>G) c.2931A>G (p.Gly977=) c.2784A>G (p.Gly928=) c.2553A>G (p.Gly851=) c.2016A>G (p.Gly672=) c.2901A>G (p.Gly967=) c.2823A>G (p.Gly941=) n.2886A>G c.*376A>G (n.*376A>G) n.3229A>G c.*1133A>G (n.*1133A>G) n.3354A>G c.1959A>G (p.Gly653=) c.*2423A>G (n.*2423A>G) n.2161A>G c.*2501A>G (n.*2501A>G) c.2808A>G (p.Gly936=) n.38A>G n.360A>G c.2766A>G (p.Gly922=) c.3030A>G (p.Gly1010=) c.2952A>G (p.Gly984=) c.2919A>G (p.Gly973=) c.2928A>G (p.Gly976=) c.1938A>G (p.Gly646=) | |
1 | g.154588243T>G | CA421231982 | ADAR | c.2795A>C (n.2795A>C) c.2931A>C (p.Gly977=) c.2784A>C (p.Gly928=) c.2553A>C (p.Gly851=) c.2016A>C (p.Gly672=) c.2901A>C (p.Gly967=) c.2823A>C (p.Gly941=) n.2886A>C c.*376A>C (n.*376A>C) n.3229A>C c.*1133A>C (n.*1133A>C) n.3354A>C c.1959A>C (p.Gly653=) c.*2423A>C (n.*2423A>C) n.2161A>C c.*2501A>C (n.*2501A>C) c.2808A>C (p.Gly936=) n.38A>C n.360A>C c.2766A>C (p.Gly922=) c.3030A>C (p.Gly1010=) c.2952A>C (p.Gly984=) c.2919A>C (p.Gly973=) c.2928A>C (p.Gly976=) c.1938A>C (p.Gly646=) | |
1 | g.154588243_154588244insTTATGGCCAAAATAATATTCAATTTATGGATATATTTGATGTTTTATTTATGAATCCATCAG | CA1131105 | ADAR | c.2794_2795insCTGATGGATTCATAAATAAAACATCAAATATATCCATAAATTGAATATTATTTTGGCCATAA (n.2794_2795insCTGATGGATTCATAAATAAAACATCAAATATATCCATAAATTGAATATTATTTTGGCCATAA) c.2930_2931insCTGATGGATTCATAAATAAAACATCAAATATATCCATAAATTGAATATTATTTTGGCCATAA (p.Asp978Ter) c.2783_2784insCTGATGGATTCATAAATAAAACATCAAATATATCCATAAATTGAATATTATTTTGGCCATAA (p.Asp929Ter) c.2552_2553insCTGATGGATTCATAAATAAAACATCAAATATATCCATAAATTGAATATTATTTTGGCCATAA (p.Asp852Ter) c.2015_2016insCTGATGGATTCATAAATAAAACATCAAATATATCCATAAATTGAATATTATTTTGGCCATAA (p.Asp673Ter) c.2900_2901insCTGATGGATTCATAAATAAAACATCAAATATATCCATAAATTGAATATTATTTTGGCCATAA (p.Asp968Ter) c.2822_2823insCTGATGGATTCATAAATAAAACATCAAATATATCCATAAATTGAATATTATTTTGGCCATAA (p.Asp942Ter) n.2885_2886insCTGATGGATTCATAAATAAAACATCAAATATATCCATAAATTGAATATTATTTTGGCCATAA c.*375_*376insCTGATGGATTCATAAATAAAACATCAAATATATCCATAAATTGAATATTATTTTGGCCATAA (n.*375_*376insCTGATGGATTCATAAATAAAACATCAAATATATCCATAAATTGAATATTATTTTGGCCATAA) n.3228_3229insCTGATGGATTCATAAATAAAACATCAAATATATCCATAAATTGAATATTATTTTGGCCATAA c.*1132_*1133insCTGATGGATTCATAAATAAAACATCAAATATATCCATAAATTGAATATTATTTTGGCCATAA (n.*1132_*1133insCTGATGGATTCATAAATAAAACATCAAATATATCCATAAATTGAATATTATTTTGGCCATAA) n.3353_3354insCTGATGGATTCATAAATAAAACATCAAATATATCCATAAATTGAATATTATTTTGGCCATAA c.1958_1959insCTGATGGATTCATAAATAAAACATCAAATATATCCATAAATTGAATATTATTTTGGCCATAA (p.Asp654Ter) c.*2422_*2423insCTGATGGATTCATAAATAAAACATCAAATATATCCATAAATTGAATATTATTTTGGCCATAA (n.*2422_*2423insCTGATGGATTCATAAATAAAACATCAAATATATCCATAAATTGAATATTATTTTGGCCATAA) n.2160_2161insCTGATGGATTCATAAATAAAACATCAAATATATCCATAAATTGAATATTATTTTGGCCATAA c.*2500_*2501insCTGATGGATTCATAAATAAAACATCAAATATATCCATAAATTGAATATTATTTTGGCCATAA (n.*2500_*2501insCTGATGGATTCATAAATAAAACATCAAATATATCCATAAATTGAATATTATTTTGGCCATAA) c.2807_2808insCTGATGGATTCATAAATAAAACATCAAATATATCCATAAATTGAATATTATTTTGGCCATAA (p.Asp937Ter) n.37_38insCTGATGGATTCATAAATAAAACATCAAATATATCCATAAATTGAATATTATTTTGGCCATAA n.359_360insCTGATGGATTCATAAATAAAACATCAAATATATCCATAAATTGAATATTATTTTGGCCATAA c.2765_2766insCTGATGGATTCATAAATAAAACATCAAATATATCCATAAATTGAATATTATTTTGGCCATAA (p.Asp923Ter) c.3029_3030insCTGATGGATTCATAAATAAAACATCAAATATATCCATAAATTGAATATTATTTTGGCCATAA (p.Asp1011Ter) c.2951_2952insCTGATGGATTCATAAATAAAACATCAAATATATCCATAAATTGAATATTATTTTGGCCATAA (p.Asp985Ter) c.2918_2919insCTGATGGATTCATAAATAAAACATCAAATATATCCATAAATTGAATATTATTTTGGCCATAA (p.Asp974Ter) c.2927_2928insCTGATGGATTCATAAATAAAACATCAAATATATCCATAAATTGAATATTATTTTGGCCATAA (p.Asp977Ter) c.1937_1938insCTGATGGATTCATAAATAAAACATCAAATATATCCATAAATTGAATATTATTTTGGCCATAA (p.Asp647Ter) | ExAC |
1 | g.154588244C>A | CA342636180 | ADAR | c.2794G>T (n.2794G>T) c.2930G>T (p.Gly977Val) c.2783G>T (p.Gly928Val) c.2552G>T (p.Gly851Val) c.2015G>T (p.Gly672Val) c.2900G>T (p.Gly967Val) c.2822G>T (p.Gly941Val) n.2885G>T c.*375G>T (n.*375G>T) n.3228G>T c.*1132G>T (n.*1132G>T) n.3353G>T c.1958G>T (p.Gly653Val) c.*2422G>T (n.*2422G>T) n.2160G>T c.*2500G>T (n.*2500G>T) c.2807G>T (p.Gly936Val) n.37G>T n.359G>T c.2765G>T (p.Gly922Val) c.3029G>T (p.Gly1010Val) c.2951G>T (p.Gly984Val) c.2918G>T (p.Gly973Val) c.2927G>T (p.Gly976Val) c.1937G>T (p.Gly646Val) | |
1 | g.154588244C>G | CA342636181 | ADAR | c.2794G>C (n.2794G>C) c.2930G>C (p.Gly977Ala) c.2783G>C (p.Gly928Ala) c.2552G>C (p.Gly851Ala) c.2015G>C (p.Gly672Ala) c.2900G>C (p.Gly967Ala) c.2822G>C (p.Gly941Ala) n.2885G>C c.*375G>C (n.*375G>C) n.3228G>C c.*1132G>C (n.*1132G>C) n.3353G>C c.1958G>C (p.Gly653Ala) c.*2422G>C (n.*2422G>C) n.2160G>C c.*2500G>C (n.*2500G>C) c.2807G>C (p.Gly936Ala) n.37G>C n.359G>C c.2765G>C (p.Gly922Ala) c.3029G>C (p.Gly1010Ala) c.2951G>C (p.Gly984Ala) c.2918G>C (p.Gly973Ala) c.2927G>C (p.Gly976Ala) c.1937G>C (p.Gly646Ala) | |
1 | g.154588244C>T | CA342636182 | ADAR | c.2794G>A (n.2794G>A) c.2930G>A (p.Gly977Glu) c.2783G>A (p.Gly928Glu) c.2552G>A (p.Gly851Glu) c.2015G>A (p.Gly672Glu) c.2900G>A (p.Gly967Glu) c.2822G>A (p.Gly941Glu) n.2885G>A c.*375G>A (n.*375G>A) n.3228G>A c.*1132G>A (n.*1132G>A) n.3353G>A c.1958G>A (p.Gly653Glu) c.*2422G>A (n.*2422G>A) n.2160G>A c.*2500G>A (n.*2500G>A) c.2807G>A (p.Gly936Glu) n.37G>A n.359G>A c.2765G>A (p.Gly922Glu) c.3029G>A (p.Gly1010Glu) c.2951G>A (p.Gly984Glu) c.2918G>A (p.Gly973Glu) c.2927G>A (p.Gly976Glu) c.1937G>A (p.Gly646Glu) | |
1 | g.154588245C>A | CA342636183 | ADAR | c.2793G>T (n.2793G>T) c.2929G>T (p.Gly977Ter) c.2782G>T (p.Gly928Ter) c.2551G>T (p.Gly851Ter) c.2014G>T (p.Gly672Ter) c.2899G>T (p.Gly967Ter) c.2821G>T (p.Gly941Ter) n.2884G>T c.*374G>T (n.*374G>T) n.3227G>T c.*1131G>T (n.*1131G>T) n.3352G>T c.1957G>T (p.Gly653Ter) c.*2421G>T (n.*2421G>T) n.2159G>T c.*2499G>T (n.*2499G>T) c.2806G>T (p.Gly936Ter) n.36G>T n.358G>T c.2764G>T (p.Gly922Ter) c.3028G>T (p.Gly1010Ter) c.2950G>T (p.Gly984Ter) c.2917G>T (p.Gly973Ter) c.2926G>T (p.Gly976Ter) c.1936G>T (p.Gly646Ter) | |
1 | g.154588245C>G | CA342636185 | ADAR | c.2793G>C (n.2793G>C) c.2929G>C (p.Gly977Arg) c.2782G>C (p.Gly928Arg) c.2551G>C (p.Gly851Arg) c.2014G>C (p.Gly672Arg) c.2899G>C (p.Gly967Arg) c.2821G>C (p.Gly941Arg) n.2884G>C c.*374G>C (n.*374G>C) n.3227G>C c.*1131G>C (n.*1131G>C) n.3352G>C c.1957G>C (p.Gly653Arg) c.*2421G>C (n.*2421G>C) n.2159G>C c.*2499G>C (n.*2499G>C) c.2806G>C (p.Gly936Arg) n.36G>C n.358G>C c.2764G>C (p.Gly922Arg) c.3028G>C (p.Gly1010Arg) c.2950G>C (p.Gly984Arg) c.2917G>C (p.Gly973Arg) c.2926G>C (p.Gly976Arg) c.1936G>C (p.Gly646Arg) | |
1 | g.154588245C>T | CA342636184 | ADAR | c.2793G>A (n.2793G>A) c.2929G>A (p.Gly977Arg) c.2782G>A (p.Gly928Arg) c.2551G>A (p.Gly851Arg) c.2014G>A (p.Gly672Arg) c.2899G>A (p.Gly967Arg) c.2821G>A (p.Gly941Arg) n.2884G>A c.*374G>A (n.*374G>A) n.3227G>A c.*1131G>A (n.*1131G>A) n.3352G>A c.1957G>A (p.Gly653Arg) c.*2421G>A (n.*2421G>A) n.2159G>A c.*2499G>A (n.*2499G>A) c.2806G>A (p.Gly936Arg) n.36G>A n.358G>A c.2764G>A (p.Gly922Arg) c.3028G>A (p.Gly1010Arg) c.2950G>A (p.Gly984Arg) c.2917G>A (p.Gly973Arg) c.2926G>A (p.Gly976Arg) c.1936G>A (p.Gly646Arg) | |
1 | g.154588246A>C | CA342636186 | ADAR | c.2792T>G (n.2792T>G) c.2928T>G (p.Cys976Trp) c.2781T>G (p.Cys927Trp) c.2550T>G (p.Cys850Trp) c.2013T>G (p.Cys671Trp) c.2898T>G (p.Cys966Trp) c.2820T>G (p.Cys940Trp) n.2883T>G c.*373T>G (n.*373T>G) n.3226T>G c.*1130T>G (n.*1130T>G) n.3351T>G c.1956T>G (p.Cys652Trp) c.*2420T>G (n.*2420T>G) n.2158T>G c.*2498T>G (n.*2498T>G) c.2805T>G (p.Cys935Trp) n.35T>G n.357T>G c.2763T>G (p.Cys921Trp) c.3027T>G (p.Cys1009Trp) c.2949T>G (p.Cys983Trp) c.2916T>G (p.Cys972Trp) c.2925T>G (p.Cys975Trp) c.1935T>G (p.Cys645Trp) | |
1 | g.154588246A>G | CA421231990 | ADAR | c.2792T>C (n.2792T>C) c.2928T>C (p.Cys976=) c.2781T>C (p.Cys927=) c.2550T>C (p.Cys850=) c.2013T>C (p.Cys671=) c.2898T>C (p.Cys966=) c.2820T>C (p.Cys940=) n.2883T>C c.*373T>C (n.*373T>C) n.3226T>C c.*1130T>C (n.*1130T>C) n.3351T>C c.1956T>C (p.Cys652=) c.*2420T>C (n.*2420T>C) n.2158T>C c.*2498T>C (n.*2498T>C) c.2805T>C (p.Cys935=) n.35T>C n.357T>C c.2763T>C (p.Cys921=) c.3027T>C (p.Cys1009=) c.2949T>C (p.Cys983=) c.2916T>C (p.Cys972=) c.2925T>C (p.Cys975=) c.1935T>C (p.Cys645=) | |
1 | g.154588246A>T | CA342636187 | ADAR | c.2792T>A (n.2792T>A) c.2928T>A (p.Cys976Ter) c.2781T>A (p.Cys927Ter) c.2550T>A (p.Cys850Ter) c.2013T>A (p.Cys671Ter) c.2898T>A (p.Cys966Ter) c.2820T>A (p.Cys940Ter) n.2883T>A c.*373T>A (n.*373T>A) n.3226T>A c.*1130T>A (n.*1130T>A) n.3351T>A c.1956T>A (p.Cys652Ter) c.*2420T>A (n.*2420T>A) n.2158T>A c.*2498T>A (n.*2498T>A) c.2805T>A (p.Cys935Ter) n.35T>A n.357T>A c.2763T>A (p.Cys921Ter) c.3027T>A (p.Cys1009Ter) c.2949T>A (p.Cys983Ter) c.2916T>A (p.Cys972Ter) c.2925T>A (p.Cys975Ter) c.1935T>A (p.Cys645Ter) | |
1 | g.154588247C>A | CA342636188 | ADAR | c.2791G>T (n.2791G>T) c.2927G>T (p.Cys976Phe) c.2780G>T (p.Cys927Phe) c.2549G>T (p.Cys850Phe) c.2012G>T (p.Cys671Phe) c.2897G>T (p.Cys966Phe) c.2819G>T (p.Cys940Phe) n.2882G>T c.*372G>T (n.*372G>T) n.3225G>T c.*1129G>T (n.*1129G>T) n.3350G>T c.1955G>T (p.Cys652Phe) c.*2419G>T (n.*2419G>T) n.2157G>T c.*2497G>T (n.*2497G>T) c.2804G>T (p.Cys935Phe) n.34G>T n.356G>T c.2762G>T (p.Cys921Phe) c.3026G>T (p.Cys1009Phe) c.2948G>T (p.Cys983Phe) c.2915G>T (p.Cys972Phe) c.2924G>T (p.Cys975Phe) c.1934G>T (p.Cys645Phe) | |
1 | g.154588247C>G | CA342636189 | ADAR | c.2791G>C (n.2791G>C) c.2927G>C (p.Cys976Ser) c.2780G>C (p.Cys927Ser) c.2549G>C (p.Cys850Ser) c.2012G>C (p.Cys671Ser) c.2897G>C (p.Cys966Ser) c.2819G>C (p.Cys940Ser) n.2882G>C c.*372G>C (n.*372G>C) n.3225G>C c.*1129G>C (n.*1129G>C) n.3350G>C c.1955G>C (p.Cys652Ser) c.*2419G>C (n.*2419G>C) n.2157G>C c.*2497G>C (n.*2497G>C) c.2804G>C (p.Cys935Ser) n.34G>C n.356G>C c.2762G>C (p.Cys921Ser) c.3026G>C (p.Cys1009Ser) c.2948G>C (p.Cys983Ser) c.2915G>C (p.Cys972Ser) c.2924G>C (p.Cys975Ser) c.1934G>C (p.Cys645Ser) | |
1 | g.154588247C>T | CA342636190 | ADAR | c.2791G>A (n.2791G>A) c.2927G>A (p.Cys976Tyr) c.2780G>A (p.Cys927Tyr) c.2549G>A (p.Cys850Tyr) c.2012G>A (p.Cys671Tyr) c.2897G>A (p.Cys966Tyr) c.2819G>A (p.Cys940Tyr) n.2882G>A c.*372G>A (n.*372G>A) n.3225G>A c.*1129G>A (n.*1129G>A) n.3350G>A c.1955G>A (p.Cys652Tyr) c.*2419G>A (n.*2419G>A) n.2157G>A c.*2497G>A (n.*2497G>A) c.2804G>A (p.Cys935Tyr) n.34G>A n.356G>A c.2762G>A (p.Cys921Tyr) c.3026G>A (p.Cys1009Tyr) c.2948G>A (p.Cys983Tyr) c.2915G>A (p.Cys972Tyr) c.2924G>A (p.Cys975Tyr) c.1934G>A (p.Cys645Tyr) | |
1 | g.154588248A>C | CA342636191 | ADAR | c.2790T>G (n.2790T>G) c.2926T>G (p.Cys976Gly) c.2779T>G (p.Cys927Gly) c.2548T>G (p.Cys850Gly) c.2011T>G (p.Cys671Gly) c.2896T>G (p.Cys966Gly) c.2818T>G (p.Cys940Gly) n.2881T>G c.*371T>G (n.*371T>G) n.3224T>G c.*1128T>G (n.*1128T>G) n.3349T>G c.1954T>G (p.Cys652Gly) c.*2418T>G (n.*2418T>G) n.2156T>G c.*2496T>G (n.*2496T>G) c.2803T>G (p.Cys935Gly) n.33T>G n.355T>G c.2761T>G (p.Cys921Gly) c.3025T>G (p.Cys1009Gly) c.2947T>G (p.Cys983Gly) c.2914T>G (p.Cys972Gly) c.2923T>G (p.Cys975Gly) c.1933T>G (p.Cys645Gly) | |
1 | g.154588248A>G | CA342636192 | ADAR | c.2790T>C (n.2790T>C) c.2926T>C (p.Cys976Arg) c.2779T>C (p.Cys927Arg) c.2548T>C (p.Cys850Arg) c.2011T>C (p.Cys671Arg) c.2896T>C (p.Cys966Arg) c.2818T>C (p.Cys940Arg) n.2881T>C c.*371T>C (n.*371T>C) n.3224T>C c.*1128T>C (n.*1128T>C) n.3349T>C c.1954T>C (p.Cys652Arg) c.*2418T>C (n.*2418T>C) n.2156T>C c.*2496T>C (n.*2496T>C) c.2803T>C (p.Cys935Arg) n.33T>C n.355T>C c.2761T>C (p.Cys921Arg) c.3025T>C (p.Cys1009Arg) c.2947T>C (p.Cys983Arg) c.2914T>C (p.Cys972Arg) c.2923T>C (p.Cys975Arg) c.1933T>C (p.Cys645Arg) | |
1 | g.154588248A>T | CA342636193 | ADAR | c.2790T>A (n.2790T>A) c.2926T>A (p.Cys976Ser) c.2779T>A (p.Cys927Ser) c.2548T>A (p.Cys850Ser) c.2011T>A (p.Cys671Ser) c.2896T>A (p.Cys966Ser) c.2818T>A (p.Cys940Ser) n.2881T>A c.*371T>A (n.*371T>A) n.3224T>A c.*1128T>A (n.*1128T>A) n.3349T>A c.1954T>A (p.Cys652Ser) c.*2418T>A (n.*2418T>A) n.2156T>A c.*2496T>A (n.*2496T>A) c.2803T>A (p.Cys935Ser) n.33T>A n.355T>A c.2761T>A (p.Cys921Ser) c.3025T>A (p.Cys1009Ser) c.2947T>A (p.Cys983Ser) c.2914T>A (p.Cys972Ser) c.2923T>A (p.Cys975Ser) c.1933T>A (p.Cys645Ser) | |
1 | g.154588249C>A | CA1131107 | ADAR | c.2789G>T (n.2789G>T) c.2925G>T (p.Pro975=) c.2778G>T (p.Pro926=) c.2547G>T (p.Pro849=) c.2010G>T (p.Pro670=) c.2895G>T (p.Pro965=) c.2817G>T (p.Pro939=) n.2880G>T c.*370G>T (n.*370G>T) n.3223G>T c.*1127G>T (n.*1127G>T) n.3348G>T c.1953G>T (p.Pro651=) c.*2417G>T (n.*2417G>T) n.2155G>T c.*2495G>T (n.*2495G>T) c.2802G>T (p.Pro934=) n.32G>T n.354G>T c.2760G>T (p.Pro920=) c.3024G>T (p.Pro1008=) c.2946G>T (p.Pro982=) c.2913G>T (p.Pro971=) c.2922G>T (p.Pro974=) c.1932G>T (p.Pro644=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.154588249C= | CA1142288301 | ADAR | c.2789G= (n.2789G=) c.2925G= (p.Pro975=) c.2778G= (p.Pro926=) c.2547G= (p.Pro849=) c.2010G= (p.Pro670=) c.2895G= (p.Pro965=) c.2817G= (p.Pro939=) n.2880G= c.*370G= (n.*370G=) n.3223G= c.*1127G= (n.*1127G=) n.3348G= c.1953G= (p.Pro651=) c.*2417G= (n.*2417G=) n.2155G= c.*2495G= (n.*2495G=) c.2802G= (p.Pro934=) n.32G= n.354G= c.2760G= (p.Pro920=) c.3024G= (p.Pro1008=) c.2946G= (p.Pro982=) c.2913G= (p.Pro971=) c.2922G= (p.Pro974=) c.1932G= (p.Pro644=) | |
1 | g.154588249C>G | CA421231992 | ADAR | c.2789G>C (n.2789G>C) c.2925G>C (p.Pro975=) c.2778G>C (p.Pro926=) c.2547G>C (p.Pro849=) c.2010G>C (p.Pro670=) c.2895G>C (p.Pro965=) c.2817G>C (p.Pro939=) n.2880G>C c.*370G>C (n.*370G>C) n.3223G>C c.*1127G>C (n.*1127G>C) n.3348G>C c.1953G>C (p.Pro651=) c.*2417G>C (n.*2417G>C) n.2155G>C c.*2495G>C (n.*2495G>C) c.2802G>C (p.Pro934=) n.32G>C n.354G>C c.2760G>C (p.Pro920=) c.3024G>C (p.Pro1008=) c.2946G>C (p.Pro982=) c.2913G>C (p.Pro971=) c.2922G>C (p.Pro974=) c.1932G>C (p.Pro644=) | |
1 | g.154588249C>T | CA1131106 | ADAR | c.2789G>A (n.2789G>A) c.2925G>A (p.Pro975=) c.2778G>A (p.Pro926=) c.2547G>A (p.Pro849=) c.2010G>A (p.Pro670=) c.2895G>A (p.Pro965=) c.2817G>A (p.Pro939=) n.2880G>A c.*370G>A (n.*370G>A) n.3223G>A c.*1127G>A (n.*1127G>A) n.3348G>A c.1953G>A (p.Pro651=) c.*2417G>A (n.*2417G>A) n.2155G>A c.*2495G>A (n.*2495G>A) c.2802G>A (p.Pro934=) n.32G>A n.354G>A c.2760G>A (p.Pro920=) c.3024G>A (p.Pro1008=) c.2946G>A (p.Pro982=) c.2913G>A (p.Pro971=) c.2922G>A (p.Pro974=) c.1932G>A (p.Pro644=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154588250G>A | CA342636194 | ADAR | c.2788C>T (n.2788C>T) c.2924C>T (p.Pro975Leu) c.2777C>T (p.Pro926Leu) c.2546C>T (p.Pro849Leu) c.2009C>T (p.Pro670Leu) c.2894C>T (p.Pro965Leu) c.2816C>T (p.Pro939Leu) n.2879C>T c.*369C>T (n.*369C>T) n.3222C>T c.*1126C>T (n.*1126C>T) n.3347C>T c.1952C>T (p.Pro651Leu) c.*2416C>T (n.*2416C>T) n.2154C>T c.*2494C>T (n.*2494C>T) c.2801C>T (p.Pro934Leu) n.31C>T n.353C>T c.2759C>T (p.Pro920Leu) c.3023C>T (p.Pro1008Leu) c.2945C>T (p.Pro982Leu) c.2912C>T (p.Pro971Leu) c.2921C>T (p.Pro974Leu) c.1931C>T (p.Pro644Leu) | ClinVar gnomAD v4 |
1 | g.154588250G>C | CA342636195 | ADAR | c.2788C>G (n.2788C>G) c.2924C>G (p.Pro975Arg) c.2777C>G (p.Pro926Arg) c.2546C>G (p.Pro849Arg) c.2009C>G (p.Pro670Arg) c.2894C>G (p.Pro965Arg) c.2816C>G (p.Pro939Arg) n.2879C>G c.*369C>G (n.*369C>G) n.3222C>G c.*1126C>G (n.*1126C>G) n.3347C>G c.1952C>G (p.Pro651Arg) c.*2416C>G (n.*2416C>G) n.2154C>G c.*2494C>G (n.*2494C>G) c.2801C>G (p.Pro934Arg) n.31C>G n.353C>G c.2759C>G (p.Pro920Arg) c.3023C>G (p.Pro1008Arg) c.2945C>G (p.Pro982Arg) c.2912C>G (p.Pro971Arg) c.2921C>G (p.Pro974Arg) c.1931C>G (p.Pro644Arg) | |
1 | g.154588250G>T | CA342636196 | ADAR | c.2788C>A (n.2788C>A) c.2924C>A (p.Pro975Gln) c.2777C>A (p.Pro926Gln) c.2546C>A (p.Pro849Gln) c.2009C>A (p.Pro670Gln) c.2894C>A (p.Pro965Gln) c.2816C>A (p.Pro939Gln) n.2879C>A c.*369C>A (n.*369C>A) n.3222C>A c.*1126C>A (n.*1126C>A) n.3347C>A c.1952C>A (p.Pro651Gln) c.*2416C>A (n.*2416C>A) n.2154C>A c.*2494C>A (n.*2494C>A) c.2801C>A (p.Pro934Gln) n.31C>A n.353C>A c.2759C>A (p.Pro920Gln) c.3023C>A (p.Pro1008Gln) c.2945C>A (p.Pro982Gln) c.2912C>A (p.Pro971Gln) c.2921C>A (p.Pro974Gln) c.1931C>A (p.Pro644Gln) | |
1 | g.154588250_154588251delinsAA | CA645528216 | ADAR | c.2787_2788delinsTT (n.2787_2788delinsTT) c.2923_2924delinsTT (p.Pro975Leu) c.2776_2777delinsTT (p.Pro926Leu) c.2545_2546delinsTT (p.Pro849Leu) c.2008_2009delinsTT (p.Pro670Leu) c.2893_2894delinsTT (p.Pro965Leu) c.2815_2816delinsTT (p.Pro939Leu) n.2878_2879delinsTT c.*368_*369delinsTT (n.*368_*369delinsTT) n.3221_3222delinsTT c.*1125_*1126delinsTT (n.*1125_*1126delinsTT) n.3346_3347delinsTT c.1951_1952delinsTT (p.Pro651Leu) c.*2415_*2416delinsTT (n.*2415_*2416delinsTT) n.2153_2154delinsTT c.*2493_*2494delinsTT (n.*2493_*2494delinsTT) c.2800_2801delinsTT (p.Pro934Leu) n.30_31delinsTT n.352_353delinsTT c.2758_2759delinsTT (p.Pro920Leu) c.3022_3023delinsTT (p.Pro1008Leu) c.2944_2945delinsTT (p.Pro982Leu) c.2911_2912delinsTT (p.Pro971Leu) c.2920_2921delinsTT (p.Pro974Leu) c.1930_1931delinsTT (p.Pro644Leu) | COSMIC |
1 | g.154588251del | CA2648178154 | ADAR | c.2788del (n.2788del) c.2924del (p.Pro975ArgfsTer?) c.2777del (p.Pro926ArgfsTer?) c.2546del (p.Pro849ArgfsTer?) c.2009del (p.Pro670ArgfsTer?) c.2894del (p.Pro965ArgfsTer?) c.2816del (p.Pro939ArgfsTer?) n.2879del c.*369del (n.*369del) n.3222del c.*1126del (n.*1126del) n.3347del c.1952del (p.Pro651ArgfsTer?) c.*2416del (n.*2416del) n.2154del c.*2494del (n.*2494del) c.2801del (p.Pro934ArgfsTer?) n.31del n.353del c.2759del (p.Pro920ArgfsTer?) c.3023del (p.Pro1008ArgfsTer?) c.2945del (p.Pro982ArgfsTer?) c.2912del (p.Pro971ArgfsTer?) c.2921del (p.Pro974ArgfsTer?) c.1931del (p.Pro644ArgfsTer?) | gnomAD v4 |
1 | g.154588251G>A | CA342636198 | ADAR | c.2787C>T (n.2787C>T) c.2923C>T (p.Pro975Ser) c.2776C>T (p.Pro926Ser) c.2545C>T (p.Pro849Ser) c.2008C>T (p.Pro670Ser) c.2893C>T (p.Pro965Ser) c.2815C>T (p.Pro939Ser) n.2878C>T c.*368C>T (n.*368C>T) n.3221C>T c.*1125C>T (n.*1125C>T) n.3346C>T c.1951C>T (p.Pro651Ser) c.*2415C>T (n.*2415C>T) n.2153C>T c.*2493C>T (n.*2493C>T) c.2800C>T (p.Pro934Ser) n.30C>T n.352C>T c.2758C>T (p.Pro920Ser) c.3022C>T (p.Pro1008Ser) c.2944C>T (p.Pro982Ser) c.2911C>T (p.Pro971Ser) c.2920C>T (p.Pro974Ser) c.1930C>T (p.Pro644Ser) | ClinVar |
1 | g.154588251G>C | CA342636199 | ADAR | c.2787C>G (n.2787C>G) c.2923C>G (p.Pro975Ala) c.2776C>G (p.Pro926Ala) c.2545C>G (p.Pro849Ala) c.2008C>G (p.Pro670Ala) c.2893C>G (p.Pro965Ala) c.2815C>G (p.Pro939Ala) n.2878C>G c.*368C>G (n.*368C>G) n.3221C>G c.*1125C>G (n.*1125C>G) n.3346C>G c.1951C>G (p.Pro651Ala) c.*2415C>G (n.*2415C>G) n.2153C>G c.*2493C>G (n.*2493C>G) c.2800C>G (p.Pro934Ala) n.30C>G n.352C>G c.2758C>G (p.Pro920Ala) c.3022C>G (p.Pro1008Ala) c.2944C>G (p.Pro982Ala) c.2911C>G (p.Pro971Ala) c.2920C>G (p.Pro974Ala) c.1930C>G (p.Pro644Ala) | |
1 | g.154588251G>T | CA342636197 | ADAR | c.2787C>A (n.2787C>A) c.2923C>A (p.Pro975Thr) c.2776C>A (p.Pro926Thr) c.2545C>A (p.Pro849Thr) c.2008C>A (p.Pro670Thr) c.2893C>A (p.Pro965Thr) c.2815C>A (p.Pro939Thr) n.2878C>A c.*368C>A (n.*368C>A) n.3221C>A c.*1125C>A (n.*1125C>A) n.3346C>A c.1951C>A (p.Pro651Thr) c.*2415C>A (n.*2415C>A) n.2153C>A c.*2493C>A (n.*2493C>A) c.2800C>A (p.Pro934Thr) n.30C>A n.352C>A c.2758C>A (p.Pro920Thr) c.3022C>A (p.Pro1008Thr) c.2944C>A (p.Pro982Thr) c.2911C>A (p.Pro971Thr) c.2920C>A (p.Pro974Thr) c.1930C>A (p.Pro644Thr) | |
1 | g.154588252A>C | CA421231996 | ADAR | c.2786T>G (n.2786T>G) c.2922T>G (p.Ala974=) c.2775T>G (p.Ala925=) c.2544T>G (p.Ala848=) c.2007T>G (p.Ala669=) c.2892T>G (p.Ala964=) c.2814T>G (p.Ala938=) n.2877T>G c.*367T>G (n.*367T>G) n.3220T>G c.*1124T>G (n.*1124T>G) n.3345T>G c.1950T>G (p.Ala650=) c.*2414T>G (n.*2414T>G) n.2152T>G c.*2492T>G (n.*2492T>G) c.2799T>G (p.Ala933=) n.29T>G n.351T>G c.2757T>G (p.Ala919=) c.3021T>G (p.Ala1007=) c.2943T>G (p.Ala981=) c.2910T>G (p.Ala970=) c.2919T>G (p.Ala973=) c.1929T>G (p.Ala643=) | |
1 | g.154588252A>G | CA421231997 | ADAR | c.2786T>C (n.2786T>C) c.2922T>C (p.Ala974=) c.2775T>C (p.Ala925=) c.2544T>C (p.Ala848=) c.2007T>C (p.Ala669=) c.2892T>C (p.Ala964=) c.2814T>C (p.Ala938=) n.2877T>C c.*367T>C (n.*367T>C) n.3220T>C c.*1124T>C (n.*1124T>C) n.3345T>C c.1950T>C (p.Ala650=) c.*2414T>C (n.*2414T>C) n.2152T>C c.*2492T>C (n.*2492T>C) c.2799T>C (p.Ala933=) n.29T>C n.351T>C c.2757T>C (p.Ala919=) c.3021T>C (p.Ala1007=) c.2943T>C (p.Ala981=) c.2910T>C (p.Ala970=) c.2919T>C (p.Ala973=) c.1929T>C (p.Ala643=) | |
1 | g.154588252A>T | CA421231998 | ADAR | c.2786T>A (n.2786T>A) c.2922T>A (p.Ala974=) c.2775T>A (p.Ala925=) c.2544T>A (p.Ala848=) c.2007T>A (p.Ala669=) c.2892T>A (p.Ala964=) c.2814T>A (p.Ala938=) n.2877T>A c.*367T>A (n.*367T>A) n.3220T>A c.*1124T>A (n.*1124T>A) n.3345T>A c.1950T>A (p.Ala650=) c.*2414T>A (n.*2414T>A) n.2152T>A c.*2492T>A (n.*2492T>A) c.2799T>A (p.Ala933=) n.29T>A n.351T>A c.2757T>A (p.Ala919=) c.3021T>A (p.Ala1007=) c.2943T>A (p.Ala981=) c.2910T>A (p.Ala970=) c.2919T>A (p.Ala973=) c.1929T>A (p.Ala643=) | |
1 | g.154588253G>A | CA342636200 | ADAR | c.2785C>T (n.2785C>T) c.2921C>T (p.Ala974Val) c.2774C>T (p.Ala925Val) c.2543C>T (p.Ala848Val) c.2006C>T (p.Ala669Val) c.2891C>T (p.Ala964Val) c.2813C>T (p.Ala938Val) n.2876C>T c.*366C>T (n.*366C>T) n.3219C>T c.*1123C>T (n.*1123C>T) n.3344C>T c.1949C>T (p.Ala650Val) c.*2413C>T (n.*2413C>T) n.2151C>T c.*2491C>T (n.*2491C>T) c.2798C>T (p.Ala933Val) n.28C>T n.350C>T c.2756C>T (p.Ala919Val) c.3020C>T (p.Ala1007Val) c.2942C>T (p.Ala981Val) c.2909C>T (p.Ala970Val) c.2918C>T (p.Ala973Val) c.1928C>T (p.Ala643Val) | |
1 | g.154588253G>C | CA342636202 | ADAR | c.2785C>G (n.2785C>G) c.2921C>G (p.Ala974Gly) c.2774C>G (p.Ala925Gly) c.2543C>G (p.Ala848Gly) c.2006C>G (p.Ala669Gly) c.2891C>G (p.Ala964Gly) c.2813C>G (p.Ala938Gly) n.2876C>G c.*366C>G (n.*366C>G) n.3219C>G c.*1123C>G (n.*1123C>G) n.3344C>G c.1949C>G (p.Ala650Gly) c.*2413C>G (n.*2413C>G) n.2151C>G c.*2491C>G (n.*2491C>G) c.2798C>G (p.Ala933Gly) n.28C>G n.350C>G c.2756C>G (p.Ala919Gly) c.3020C>G (p.Ala1007Gly) c.2942C>G (p.Ala981Gly) c.2909C>G (p.Ala970Gly) c.2918C>G (p.Ala973Gly) c.1928C>G (p.Ala643Gly) | |
1 | g.154588253G>T | CA342636201 | ADAR | c.2785C>A (n.2785C>A) c.2921C>A (p.Ala974Asp) c.2774C>A (p.Ala925Asp) c.2543C>A (p.Ala848Asp) c.2006C>A (p.Ala669Asp) c.2891C>A (p.Ala964Asp) c.2813C>A (p.Ala938Asp) n.2876C>A c.*366C>A (n.*366C>A) n.3219C>A c.*1123C>A (n.*1123C>A) n.3344C>A c.1949C>A (p.Ala650Asp) c.*2413C>A (n.*2413C>A) n.2151C>A c.*2491C>A (n.*2491C>A) c.2798C>A (p.Ala933Asp) n.28C>A n.350C>A c.2756C>A (p.Ala919Asp) c.3020C>A (p.Ala1007Asp) c.2942C>A (p.Ala981Asp) c.2909C>A (p.Ala970Asp) c.2918C>A (p.Ala973Asp) c.1928C>A (p.Ala643Asp) | |
1 | g.154588254C>A | CA342636203 | ADAR | c.2784G>T (n.2784G>T) c.2920G>T (p.Ala974Ser) c.2773G>T (p.Ala925Ser) c.2542G>T (p.Ala848Ser) c.2005G>T (p.Ala669Ser) c.2890G>T (p.Ala964Ser) c.2812G>T (p.Ala938Ser) n.2875G>T c.*365G>T (n.*365G>T) n.3218G>T c.*1122G>T (n.*1122G>T) n.3343G>T c.1948G>T (p.Ala650Ser) c.*2412G>T (n.*2412G>T) n.2150G>T c.*2490G>T (n.*2490G>T) c.2797G>T (p.Ala933Ser) n.27G>T n.349G>T c.2755G>T (p.Ala919Ser) c.3019G>T (p.Ala1007Ser) c.2941G>T (p.Ala981Ser) c.2908G>T (p.Ala970Ser) c.2917G>T (p.Ala973Ser) c.1927G>T (p.Ala643Ser) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.154588254C= | CA2480932546 | ADAR | c.2784G= (n.2784G=) c.2920G= (p.Ala974=) c.2773G= (p.Ala925=) c.2542G= (p.Ala848=) c.2005G= (p.Ala669=) c.2890G= (p.Ala964=) c.2812G= (p.Ala938=) n.2875G= c.*365G= (n.*365G=) n.3218G= c.*1122G= (n.*1122G=) n.3343G= c.1948G= (p.Ala650=) c.*2412G= (n.*2412G=) n.2150G= c.*2490G= (n.*2490G=) c.2797G= (p.Ala933=) n.27G= n.349G= c.2755G= (p.Ala919=) c.3019G= (p.Ala1007=) c.2941G= (p.Ala981=) c.2908G= (p.Ala970=) c.2917G= (p.Ala973=) c.1927G= (p.Ala643=) | |
1 | g.154588254C>G | CA342636205 | ADAR | c.2784G>C (n.2784G>C) c.2920G>C (p.Ala974Pro) c.2773G>C (p.Ala925Pro) c.2542G>C (p.Ala848Pro) c.2005G>C (p.Ala669Pro) c.2890G>C (p.Ala964Pro) c.2812G>C (p.Ala938Pro) n.2875G>C c.*365G>C (n.*365G>C) n.3218G>C c.*1122G>C (n.*1122G>C) n.3343G>C c.1948G>C (p.Ala650Pro) c.*2412G>C (n.*2412G>C) n.2150G>C c.*2490G>C (n.*2490G>C) c.2797G>C (p.Ala933Pro) n.27G>C n.349G>C c.2755G>C (p.Ala919Pro) c.3019G>C (p.Ala1007Pro) c.2941G>C (p.Ala981Pro) c.2908G>C (p.Ala970Pro) c.2917G>C (p.Ala973Pro) c.1927G>C (p.Ala643Pro) | |
1 | g.154588254C>T | CA342636204 | ADAR | c.2784G>A (n.2784G>A) c.2920G>A (p.Ala974Thr) c.2773G>A (p.Ala925Thr) c.2542G>A (p.Ala848Thr) c.2005G>A (p.Ala669Thr) c.2890G>A (p.Ala964Thr) c.2812G>A (p.Ala938Thr) n.2875G>A c.*365G>A (n.*365G>A) n.3218G>A c.*1122G>A (n.*1122G>A) n.3343G>A c.1948G>A (p.Ala650Thr) c.*2412G>A (n.*2412G>A) n.2150G>A c.*2490G>A (n.*2490G>A) c.2797G>A (p.Ala933Thr) n.27G>A n.349G>A c.2755G>A (p.Ala919Thr) c.3019G>A (p.Ala1007Thr) c.2941G>A (p.Ala981Thr) c.2908G>A (p.Ala970Thr) c.2917G>A (p.Ala973Thr) c.1927G>A (p.Ala643Thr) | gnomAD v4 |