Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.154588153T>ACA342635978ADARc.2885A>T (n.2885A>T)
c.3021A>T (p.Gln1007His)
c.2874A>T (p.Gln958His)
c.2643A>T (p.Gln881His)
c.2106A>T (p.Gln702His)
c.2991A>T (p.Gln997His)
c.2913A>T (p.Gln971His)
n.2976A>T
c.*466A>T (n.*466A>T)
n.3319A>T
c.*1223A>T (n.*1223A>T)
n.3444A>T
c.2049A>T (p.Gln683His)
c.*2513A>T (n.*2513A>T)
n.2251A>T
c.*2591A>T (n.*2591A>T)
c.2898A>T (p.Gln966His)
n.128A>T
n.450A>T
c.2856A>T (p.Gln952His)
c.3120A>T (p.Gln1040His)
c.3042A>T (p.Gln1014His)
c.3009A>T (p.Gln1003His)
c.3018A>T (p.Gln1006His)
c.2028A>T (p.Gln676His)
1g.154588153T>CCA1131088ADARc.2885A>G (n.2885A>G)
c.3021A>G (p.Gln1007=)
c.2874A>G (p.Gln958=)
c.2643A>G (p.Gln881=)
c.2106A>G (p.Gln702=)
c.2991A>G (p.Gln997=)
c.2913A>G (p.Gln971=)
n.2976A>G
c.*466A>G (n.*466A>G)
n.3319A>G
c.*1223A>G (n.*1223A>G)
n.3444A>G
c.2049A>G (p.Gln683=)
c.*2513A>G (n.*2513A>G)
n.2251A>G
c.*2591A>G (n.*2591A>G)
c.2898A>G (p.Gln966=)
n.128A>G
n.450A>G
c.2856A>G (p.Gln952=)
c.3120A>G (p.Gln1040=)
c.3042A>G (p.Gln1014=)
c.3009A>G (p.Gln1003=)
c.3018A>G (p.Gln1006=)
c.2028A>G (p.Gln676=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.154588153T>GCA342635979ADARc.2885A>C (n.2885A>C)
c.3021A>C (p.Gln1007His)
c.2874A>C (p.Gln958His)
c.2643A>C (p.Gln881His)
c.2106A>C (p.Gln702His)
c.2991A>C (p.Gln997His)
c.2913A>C (p.Gln971His)
n.2976A>C
c.*466A>C (n.*466A>C)
n.3319A>C
c.*1223A>C (n.*1223A>C)
n.3444A>C
c.2049A>C (p.Gln683His)
c.*2513A>C (n.*2513A>C)
n.2251A>C
c.*2591A>C (n.*2591A>C)
c.2898A>C (p.Gln966His)
n.128A>C
n.450A>C
c.2856A>C (p.Gln952His)
c.3120A>C (p.Gln1040His)
c.3042A>C (p.Gln1014His)
c.3009A>C (p.Gln1003His)
c.3018A>C (p.Gln1006His)
c.2028A>C (p.Gln676His)
1g.154588153T=CA2480932512ADARc.2885A= (n.2885A=)
c.3021A= (p.Gln1007=)
c.2874A= (p.Gln958=)
c.2643A= (p.Gln881=)
c.2106A= (p.Gln702=)
c.2991A= (p.Gln997=)
c.2913A= (p.Gln971=)
n.2976A=
c.*466A= (n.*466A=)
n.3319A=
c.*1223A= (n.*1223A=)
n.3444A=
c.2049A= (p.Gln683=)
c.*2513A= (n.*2513A=)
n.2251A=
c.*2591A= (n.*2591A=)
c.2898A= (p.Gln966=)
n.128A=
n.450A=
c.2856A= (p.Gln952=)
c.3120A= (p.Gln1040=)
c.3042A= (p.Gln1014=)
c.3009A= (p.Gln1003=)
c.3018A= (p.Gln1006=)
c.2028A= (p.Gln676=)
1g.154588154T>ACA342635980ADARc.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)
1g.154588154T>CCA342635981ADARc.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)
1g.154588154T>GCA342635982ADARc.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)
1g.154588155G>ACA342635983ADARc.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
1g.154588155G>CCA342635984ADARc.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)
1g.154588155G=CA2480932513ADARc.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=)
1g.154588155G>TCA342635985ADARc.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)
1g.154588156T>ACA342635987ADARc.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)
1g.154588156T>CCA420975092ADARc.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=)
1g.154588156T>GCA342635986ADARc.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)
1g.154588158dupCA2480932514ADARc.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
1g.154588157T>ACA342635988ADARc.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)
1g.154588157T>CCA342635989ADARc.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)
1g.154588157T>GCA342635990ADARc.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)
1g.154588158T>ACA342635991ADARc.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)
1g.154588158T>CCA342635992ADARc.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
1g.154588158T>GCA342635993ADARc.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)
1g.154588159G>ACA420975094ADARc.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=)
1g.154588159G>CCA420975095ADARc.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=)
1g.154588159G>TCA420975096ADARc.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=)
1g.154588160G>ACA342635994ADARc.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)
1g.154588160G>CCA342635995ADARc.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)
1g.154588160G>TCA342635996ADARc.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)
1g.154588161G>ACA342635997ADARc.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)
1g.154588161G>CCA1131089ADARc.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
1g.154588161G=CA1141830406ADARc.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=)
1g.154588161G>TCA342635998ADARc.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)
1g.154588162A>CCA342635999ADARc.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)
1g.154588162A>GCA421231938ADARc.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=)
1g.154588162A>TCA342636000ADARc.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)
1g.154588163T>ACA342636001ADARc.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)
1g.154588163T>CCA342636002ADARc.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)
1g.154588163T>GCA342636003ADARc.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)
1g.154588164T>ACA342636004ADARc.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)
1g.154588164T>CCA342636005ADARc.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)
1g.154588164T>GCA342636006ADARc.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)
1g.154588165C>ACA342636007ADARc.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)
1g.154588165C=CA1148246506ADARc.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=)
1g.154588165C>GCA342636008ADARc.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)
1g.154588165C>TCA1131090ADARc.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
1g.154588166T>ACA342636009ADARc.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)
1g.154588166T>CCA342636010ADARc.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)
1g.154588166T>GCA342636011ADARc.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
1g.154588166T=CA2480932515ADARc.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=)
1g.154588167C>ACA342636014ADARc.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
1g.154588167C=CA2480932516ADARc.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=)
1g.154588167C>GCA342636013ADARc.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)
1g.154588167C>TCA342636012ADARc.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
1g.154588168G>ACA1131091ADARc.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
1g.154588168G>CCA342636015ADARc.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
1g.154588168G=CA1146192335ADARc.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=)
1g.154588168G>TCA342636016ADARc.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)
1g.154588169A>CCA342636017ADARc.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
1g.154588169A>GCA342636018ADARc.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)
1g.154588169A>TCA342636019ADARc.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)
1g.154588170A>CCA342636020ADARc.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)
1g.154588170A>GCA342636021ADARc.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)
1g.154588170A>TCA342636022ADARc.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)
1g.154588171G>ACA421231939ADARc.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
1g.154588171G>CCA421231940ADARc.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=)
1g.154588171G=CA2480932517ADARc.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=)
1g.154588171G>TCA421231941ADARc.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=)
1g.154588172A>CCA342636023ADARc.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)
1g.154588172A>GCA342636024ADARc.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
1g.154588172A>TCA342636025ADARc.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)
1g.154588173C>ACA342636028ADARc.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)
1g.154588173C>GCA342636027ADARc.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)
1g.154588173C>TCA342636026ADARc.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)
1g.154588174A=CA2480932518ADARc.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=)
1g.154588174A>CCA421231943ADARc.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=)
1g.154588174A>GCA30851400ADARc.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
1g.154588174A>TCA421231942ADARc.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=)
1g.154588174_154588175delCA2573911878ADARc.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)
1g.154588175G>ACA342636029ADARc.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)
1g.154588175G>CCA342636031ADARc.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)
1g.154588175G>TCA342636030ADARc.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)
1g.154588176G>ACA342636032ADARc.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)
1g.154588176G>CCA342636033ADARc.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)
1g.154588176G>TCA342636034ADARc.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)
1g.154588177G>ACA421231944ADARc.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
1g.154588177G>CCA342636035ADARc.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)
1g.154588177G>TCA342636036ADARc.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)
1g.154588178T>ACA342636037ADARc.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)
1g.154588178T>CCA1131092ADARc.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
1g.154588178T>GCA342636038ADARc.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)
1g.154588178T=CA2480932519ADARc.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=)
1g.154588179A>CCA342636039ADARc.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)
1g.154588179A>GCA342636040ADARc.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)
1g.154588179A>TCA342636041ADARc.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)
1g.154588180G>ACA421231945ADARc.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=)
1g.154588180G>CCA342636043ADARc.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)
1g.154588180G>TCA342636042ADARc.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)
1g.154588181T>ACA342636044ADARc.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)
1g.154588181T>CCA30851414ADARc.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
1g.154588181T>GCA342636045ADARc.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)
1g.154588181T=CA1141696422ADARc.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=)
1g.154588182G>ACA342636046ADARc.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)
1g.154588182G>CCA342636047ADARc.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
1g.154588182G>TCA342636048ADARc.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)
1g.154588183G>ACA421231946ADARc.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
1g.154588183G>CCA421231947ADARc.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=)
1g.154588183G>TCA421231948ADARc.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
1g.154588184C>ACA342636049ADARc.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)
1g.154588184C=CA2480932520ADARc.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=)
1g.154588184C>GCA342636050ADARc.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)
1g.154588184C>TCA1131093ADARc.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
1g.154588185G>ACA1131094ADARc.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
1g.154588185G>CCA342636051ADARc.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)
1g.154588185G=CA2480932521ADARc.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=)
1g.154588185G>TCA342636052ADARc.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)
1g.154588186G>ACA421231949ADARc.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=)
1g.154588186G>CCA421231950ADARc.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=)
1g.154588186G>TCA421231951ADARc.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=)
1g.154588187G>ACA1131095ADARc.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
1g.154588187G>CCA342636054ADARc.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)
1g.154588187G=CA2480932522ADARc.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=)
1g.154588187G>TCA342636053ADARc.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)
1g.154588188A=CA2480932523ADARc.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=)
1g.154588188A>CCA342636055ADARc.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)
1g.154588188A>GCA1131096ADARc.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
1g.154588188A>TCA342636056ADARc.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)
1g.154588189T>ACA342636057ADARc.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)
1g.154588189T>CCA421231952ADARc.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
1g.154588189T>GCA342636058ADARc.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
1g.154588189T=CA2480932524ADARc.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=)
1g.154588190T>ACA342636059ADARc.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)
1g.154588190T>CCA30851420ADARc.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
1g.154588190T>GCA342636060ADARc.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)
1g.154588190T=CA2480932525ADARc.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=)
1g.154588191C>ACA342636061ADARc.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)
1g.154588191C>GCA342636062ADARc.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)
1g.154588191C>TCA342636063ADARc.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)
1g.154588192T>ACA421231953ADARc.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=)
1g.154588192T>CCA1131097ADARc.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
1g.154588192T>GCA421231954ADARc.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=)
1g.154588192T=CA2480932526ADARc.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=)
1g.154588193G>ACA342636065ADARc.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
1g.154588193G>CCA342636066ADARc.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
1g.154588193G=CA2480932527ADARc.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=)
1g.154588193G>TCA342636064ADARc.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)
1g.154588194T>ACA342636067ADARc.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)
1g.154588194T>CCA342636068ADARc.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
1g.154588194T>GCA342636069ADARc.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)
1g.154588195G>ACA421231955ADARc.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=)
1g.154588195G>CCA342636070ADARc.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)
1g.154588195G>TCA342636071ADARc.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)
1g.154588196C>ACA342636074ADARc.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)
1g.154588196C>GCA342636072ADARc.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)
1g.154588196C>TCA342636073ADARc.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)
1g.154588197T>ACA342636075ADARc.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)
1g.154588197T>CCA342636076ADARc.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
1g.154588197T>GCA342636077ADARc.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)
1g.154588197T=CA2480932528ADARc.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=)
1g.154588198T>ACA342636078ADARc.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)
1g.154588198T>CCA421231956ADARc.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
1g.154588198T>GCA342636079ADARc.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)
1g.154588199T>ACA342636081ADARc.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)
1g.154588199T>CCA342636080ADARc.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)
1g.154588199T>GCA30851421ADARc.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
1g.154588199T=CA2480932529ADARc.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=)
1g.154588200C>ACA342636082ADARc.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)
1g.154588200C>GCA342636084ADARc.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)
1g.154588200C>TCA342636083ADARc.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)
1g.154588201C>ACA342636085ADARc.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)
1g.154588201C>GCA342636086ADARc.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
1g.154588201C>TCA342636087ADARc.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)
1g.154588203_154588207delCA645528215ADARc.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
1g.154588202A=CA2480932530ADARc.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=)
1g.154588202A>CCA342636088ADARc.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)
1g.154588202A>GCA342636089ADARc.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
1g.154588202A>TCA342636090ADARc.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)
1g.154588203_154588204dupCA2586967351ADARc.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?)
1g.154588203T>ACA342636093ADARc.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)
1g.154588203T>CCA342636092ADARc.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
1g.154588203T>GCA342636091ADARc.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)
1g.154588203T=CA2480932531ADARc.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=)
1g.154588204A>CCA421231957ADARc.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=)
1g.154588204A>GCA421231958ADARc.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
1g.154588204A>TCA421231959ADARc.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=)
1g.154588205G>ACA342636094ADARc.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
1g.154588205G>CCA342636095ADARc.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)
1g.154588205G>TCA342636096ADARc.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)
1g.154588208_154588218dupCA2499214198ADARc.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
1g.154588206C>ACA342636097ADARc.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)
1g.154588206C>GCA342636098ADARc.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)
1g.154588206C>TCA342636099ADARc.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
1g.154588207A>CCA421231960ADARc.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=)
1g.154588207A>GCA421231961ADARc.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=)
1g.154588207A>TCA421231962ADARc.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=)
1g.154588208C>ACA342636100ADARc.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
1g.154588208C=CA1142139139ADARc.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=)
1g.154588208C>GCA342636101ADARc.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)
1g.154588208C>TCA1131098ADARc.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
1g.154588209G>ACA1131099ADARc.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
1g.154588209G>CCA342636102ADARc.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)
1g.154588209G=CA1143658031ADARc.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=)
1g.154588209G>TCA342636103ADARc.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)
1g.154588210G>ACA421231963ADARc.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
1g.154588210G>CCA342636104ADARc.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)
1g.154588210G=CA2480932532ADARc.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=)
1g.154588210G>TCA342636105ADARc.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)
1g.154588211T>ACA342636106ADARc.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)
1g.154588211T>CCA342636107ADARc.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)
1g.154588211T>GCA342636108ADARc.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)
1g.154588212C>ACA342636109ADARc.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
1g.154588212C=CA2480932533ADARc.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=)
1g.154588212C>GCA342636110ADARc.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)
1g.154588212C>TCA342636111ADARc.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
1g.154588213G>ACA30851439ADARc.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
1g.154588213G>CCA342636113ADARc.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)
1g.154588213G=CA1141745153ADARc.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=)
1g.154588213G>TCA342636112ADARc.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)
1g.154588214C>ACA342636114ADARc.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)
1g.154588214C=CA2480932534ADARc.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=)
1g.154588214C>GCA342636115ADARc.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)
1g.154588214C>TCA342636116ADARc.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
1g.154588215delCA2586967352ADARc.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?)
1g.154588215T>ACA342636117ADARc.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)
1g.154588215T>CCA342636118ADARc.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)
1g.154588215T>GCA1131100ADARc.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
1g.154588215T=CA2480932535ADARc.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=)
1g.154588216G>ACA421231964ADARc.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
1g.154588216G>CCA342636119ADARc.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)
1g.154588216G=CA2480932536ADARc.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=)
1g.154588216G>TCA342636120ADARc.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)
1g.154588217_154588219delCA2573130544ADARc.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
1g.154588217C>ACA342636121ADARc.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)
1g.154588217C=CA2480932537ADARc.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=)
1g.154588217C>GCA342636122ADARc.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)
1g.154588217C>TCA342636123ADARc.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
1g.154588218A>CCA342636126ADARc.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
1g.154588218A>GCA342636125ADARc.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)
1g.154588218A>TCA342636124ADARc.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)
1g.154588219G>ACA421231965ADARc.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
1g.154588219G>CCA421231966ADARc.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=)
1g.154588219G=CA2480932538ADARc.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=)
1g.154588219G>TCA421231967ADARc.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=)
1g.154588220G>ACA1131101ADARc.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
1g.154588220G>CCA342636127ADARc.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)
1g.154588220G=CA2480932539ADARc.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=)
1g.154588220G>TCA342636128ADARc.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
1g.154588221A>CCA342636129ADARc.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)
1g.154588221A>GCA342636130ADARc.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)
1g.154588221A>TCA342636131ADARc.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)
1g.154588222C>ACA342636132ADARc.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)
1g.154588222C=CA1141697362ADARc.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=)
1g.154588222C>GCA342636133ADARc.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
1g.154588222C>TCA1131102ADARc.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
1g.154588223T>ACA342636134ADARc.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)
1g.154588223T>CCA342636135ADARc.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
1g.154588223T>GCA342636136ADARc.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)
1g.154588223T=CA2480932540ADARc.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=)
1g.154588224T>ACA342636138ADARc.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
1g.154588224T>CCA10607928ADARc.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
1g.154588224T>GCA342636137ADARc.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)
1g.154588224T=CA2480932541ADARc.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=)
1g.154588225G>ACA421231968ADARc.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
1g.154588225G>CCA342636140ADARc.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)
1g.154588225G=CA2480932542ADARc.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=)
1g.154588225G>TCA342636139ADARc.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)
1g.154588226T>ACA342636143ADARc.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
1g.154588226T>CCA342636141ADARc.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)
1g.154588226T>GCA342636142ADARc.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)
1g.154588226T=CA2480932543ADARc.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=)
1g.154588227C>ACA342636144ADARc.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)
1g.154588227C>GCA342636145ADARc.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)
1g.154588227C>TCA342636146ADARc.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)
1g.154588228A>CCA342636147ADARc.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)
1g.154588228A>GCA421231969ADARc.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=)
1g.154588228A>TCA342636148ADARc.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)
1g.154588229_154588230delCA2586967355ADARc.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)
1g.154588229A>CCA342636149ADARc.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)
1g.154588229A>GCA342636150ADARc.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
1g.154588229A>TCA342636151ADARc.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)
1g.154588230A>CCA342636152ADARc.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)
1g.154588230A>GCA342636153ADARc.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)
1g.154588230A>TCA342636154ADARc.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)
1g.154588231G>ACA421231970ADARc.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
1g.154588231G>CCA421231971ADARc.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
1g.154588231G=CA2480932544ADARc.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=)
1g.154588231G>TCA421231972ADARc.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=)
1g.154588232A>CCA342636155ADARc.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
1g.154588232A>GCA342636157ADARc.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)
1g.154588232A>TCA342636156ADARc.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)
1g.154588233G>ACA342636158ADARc.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
1g.154588233G>CCA342636159ADARc.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)
1g.154588233G>TCA342636160ADARc.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)
1g.154588234G>ACA421231973ADARc.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
1g.154588234G>CCA421231974ADARc.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
1g.154588234G>TCA421231975ADARc.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=)
1g.154588235G>ACA342636161ADARc.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)
1g.154588235G>CCA342636162ADARc.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)
1g.154588235G>TCA342636163ADARc.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)
1g.154588236C>ACA342636164ADARc.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
1g.154588236C=CA2480932545ADARc.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=)
1g.154588236C>GCA342636165ADARc.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)
1g.154588236C>TCA1131103ADARc.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
1g.154588237G>ACA1131104ADARc.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
1g.154588237G>CCA421231976ADARc.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=)
1g.154588237G=CA1142808790ADARc.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=)
1g.154588237G>TCA421231977ADARc.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
1g.154588238C>ACA342636167ADARc.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)
1g.154588238C>GCA342636168ADARc.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)
1g.154588238C>TCA342636166ADARc.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)
1g.154588239C>ACA342636169ADARc.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)
1g.154588239C>GCA342636170ADARc.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)
1g.154588239C>TCA342636171ADARc.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)
1g.154588240A>CCA342636172ADARc.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)
1g.154588240A>GCA421231980ADARc.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=)
1g.154588240A>TCA342636173ADARc.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)
1g.154588241T>ACA342636176ADARc.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)
1g.154588241T>CCA342636175ADARc.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)
1g.154588241T>GCA342636174ADARc.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)
1g.154588242C>ACA342636177ADARc.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)
1g.154588242C>GCA342636178ADARc.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)
1g.154588242C>TCA342636179ADARc.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)
1g.154588243T>ACA421231984ADARc.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=)
1g.154588243T>CCA421231983ADARc.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=)
1g.154588243T>GCA421231982ADARc.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=)
1g.154588243_154588244insTTATGGCCAAAATAATATTCAATTTATGGATATATTTGATGTTTTATTTATGAATCCATCAGCA1131105ADARc.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
1g.154588244C>ACA342636180ADARc.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)
1g.154588244C>GCA342636181ADARc.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)
1g.154588244C>TCA342636182ADARc.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)
1g.154588245C>ACA342636183ADARc.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)
1g.154588245C>GCA342636185ADARc.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)
1g.154588245C>TCA342636184ADARc.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)
1g.154588246A>CCA342636186ADARc.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)
1g.154588246A>GCA421231990ADARc.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=)
1g.154588246A>TCA342636187ADARc.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)
1g.154588247C>ACA342636188ADARc.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)
1g.154588247C>GCA342636189ADARc.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)
1g.154588247C>TCA342636190ADARc.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)
1g.154588248A>CCA342636191ADARc.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)
1g.154588248A>GCA342636192ADARc.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)
1g.154588248A>TCA342636193ADARc.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)
1g.154588249C>ACA1131107ADARc.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
1g.154588249C=CA1142288301ADARc.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=)
1g.154588249C>GCA421231992ADARc.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=)
1g.154588249C>TCA1131106ADARc.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
1g.154588250G>ACA342636194ADARc.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
1g.154588250G>CCA342636195ADARc.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)
1g.154588250G>TCA342636196ADARc.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)
1g.154588250_154588251delinsAACA645528216ADARc.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
1g.154588251delCA2648178154ADARc.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
1g.154588251G>ACA342636198ADARc.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
1g.154588251G>CCA342636199ADARc.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)
1g.154588251G>TCA342636197ADARc.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)
1g.154588252A>CCA421231996ADARc.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=)
1g.154588252A>GCA421231997ADARc.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=)
1g.154588252A>TCA421231998ADARc.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=)
1g.154588253G>ACA342636200ADARc.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)
1g.154588253G>CCA342636202ADARc.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)
1g.154588253G>TCA342636201ADARc.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)

Number of alleles fetched