Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.24823240A= | CA1239072273 | ADCY3 | c.2855T= (p.Phe952=) c.2852T= (p.Phe951=) n.124T= c.1793T= (p.Phe598=) c.2921T= (p.Phe974=) c.2978T= (p.Phe993=) c.2975T= (p.Phe992=) c.2912T= (p.Phe971=) c.2840T= (p.Phe947=) c.2780T= (p.Phe927=) c.2312T= (p.Phe771=) c.2255T= (p.Phe752=) c.2918T= (p.Phe973=) c.2909T= (p.Phe970=) c.2837T= (p.Phe946=) c.2714T= (p.Phe905=) c.2342T= (p.Phe781=) c.2132T= (p.Phe711=) c.2129T= (p.Phe710=) c.2332-610T= (n.2332-610T=) | |
2 | g.24823240A>C | CA1553602 | ADCY3 | c.2855T>G (p.Phe952Cys) c.2852T>G (p.Phe951Cys) n.124T>G c.1793T>G (p.Phe598Cys) c.2921T>G (p.Phe974Cys) c.2978T>G (p.Phe993Cys) c.2975T>G (p.Phe992Cys) c.2912T>G (p.Phe971Cys) c.2840T>G (p.Phe947Cys) c.2780T>G (p.Phe927Cys) c.2312T>G (p.Phe771Cys) c.2255T>G (p.Phe752Cys) c.2918T>G (p.Phe973Cys) c.2909T>G (p.Phe970Cys) c.2837T>G (p.Phe946Cys) c.2714T>G (p.Phe905Cys) c.2342T>G (p.Phe781Cys) c.2132T>G (p.Phe711Cys) c.2129T>G (p.Phe710Cys) c.2332-610T>G (n.2332-610T>G) | dbSNP ExAC |
2 | g.24823240A>G | CA346062553 | ADCY3 | c.2855T>C (p.Phe952Ser) c.2852T>C (p.Phe951Ser) n.124T>C c.1793T>C (p.Phe598Ser) c.2921T>C (p.Phe974Ser) c.2978T>C (p.Phe993Ser) c.2975T>C (p.Phe992Ser) c.2912T>C (p.Phe971Ser) c.2840T>C (p.Phe947Ser) c.2780T>C (p.Phe927Ser) c.2312T>C (p.Phe771Ser) c.2255T>C (p.Phe752Ser) c.2918T>C (p.Phe973Ser) c.2909T>C (p.Phe970Ser) c.2837T>C (p.Phe946Ser) c.2714T>C (p.Phe905Ser) c.2342T>C (p.Phe781Ser) c.2132T>C (p.Phe711Ser) c.2129T>C (p.Phe710Ser) c.2332-610T>C (n.2332-610T>C) | |
2 | g.24823240A>T | CA346062554 | ADCY3 | c.2855T>A (p.Phe952Tyr) c.2852T>A (p.Phe951Tyr) n.124T>A c.1793T>A (p.Phe598Tyr) c.2921T>A (p.Phe974Tyr) c.2978T>A (p.Phe993Tyr) c.2975T>A (p.Phe992Tyr) c.2912T>A (p.Phe971Tyr) c.2840T>A (p.Phe947Tyr) c.2780T>A (p.Phe927Tyr) c.2312T>A (p.Phe771Tyr) c.2255T>A (p.Phe752Tyr) c.2918T>A (p.Phe973Tyr) c.2909T>A (p.Phe970Tyr) c.2837T>A (p.Phe946Tyr) c.2714T>A (p.Phe905Tyr) c.2342T>A (p.Phe781Tyr) c.2132T>A (p.Phe711Tyr) c.2129T>A (p.Phe710Tyr) c.2332-610T>A (n.2332-610T>A) | |
2 | g.24823241A= | CA1239072274 | ADCY3 | c.2854T= (p.Phe952=) c.2851T= (p.Phe951=) n.123T= c.1792T= (p.Phe598=) c.2920T= (p.Phe974=) c.2977T= (p.Phe993=) c.2974T= (p.Phe992=) c.2911T= (p.Phe971=) c.2839T= (p.Phe947=) c.2779T= (p.Phe927=) c.2311T= (p.Phe771=) c.2254T= (p.Phe752=) c.2917T= (p.Phe973=) c.2908T= (p.Phe970=) c.2836T= (p.Phe946=) c.2713T= (p.Phe905=) c.2341T= (p.Phe781=) c.2131T= (p.Phe711=) c.2128T= (p.Phe710=) c.2332-611T= (n.2332-611T=) | |
2 | g.24823241A>C | CA346062557 | ADCY3 | c.2854T>G (p.Phe952Val) c.2851T>G (p.Phe951Val) n.123T>G c.1792T>G (p.Phe598Val) c.2920T>G (p.Phe974Val) c.2977T>G (p.Phe993Val) c.2974T>G (p.Phe992Val) c.2911T>G (p.Phe971Val) c.2839T>G (p.Phe947Val) c.2779T>G (p.Phe927Val) c.2311T>G (p.Phe771Val) c.2254T>G (p.Phe752Val) c.2917T>G (p.Phe973Val) c.2908T>G (p.Phe970Val) c.2836T>G (p.Phe946Val) c.2713T>G (p.Phe905Val) c.2341T>G (p.Phe781Val) c.2131T>G (p.Phe711Val) c.2128T>G (p.Phe710Val) c.2332-611T>G (n.2332-611T>G) | |
2 | g.24823241A>G | CA1553603 | ADCY3 | c.2854T>C (p.Phe952Leu) c.2851T>C (p.Phe951Leu) n.123T>C c.1792T>C (p.Phe598Leu) c.2920T>C (p.Phe974Leu) c.2977T>C (p.Phe993Leu) c.2974T>C (p.Phe992Leu) c.2911T>C (p.Phe971Leu) c.2839T>C (p.Phe947Leu) c.2779T>C (p.Phe927Leu) c.2311T>C (p.Phe771Leu) c.2254T>C (p.Phe752Leu) c.2917T>C (p.Phe973Leu) c.2908T>C (p.Phe970Leu) c.2836T>C (p.Phe946Leu) c.2713T>C (p.Phe905Leu) c.2341T>C (p.Phe781Leu) c.2131T>C (p.Phe711Leu) c.2128T>C (p.Phe710Leu) c.2332-611T>C (n.2332-611T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.24823241A>T | CA346062555 | ADCY3 | c.2854T>A (p.Phe952Ile) c.2851T>A (p.Phe951Ile) n.123T>A c.1792T>A (p.Phe598Ile) c.2920T>A (p.Phe974Ile) c.2977T>A (p.Phe993Ile) c.2974T>A (p.Phe992Ile) c.2911T>A (p.Phe971Ile) c.2839T>A (p.Phe947Ile) c.2779T>A (p.Phe927Ile) c.2311T>A (p.Phe771Ile) c.2254T>A (p.Phe752Ile) c.2917T>A (p.Phe973Ile) c.2908T>A (p.Phe970Ile) c.2836T>A (p.Phe946Ile) c.2713T>A (p.Phe905Ile) c.2341T>A (p.Phe781Ile) c.2131T>A (p.Phe711Ile) c.2128T>A (p.Phe710Ile) c.2332-611T>A (n.2332-611T>A) | |
2 | g.24823242A>C | CA425171957 | ADCY3 | c.2853T>G (p.Arg951=) c.2850T>G (p.Arg950=) n.122T>G c.1791T>G (p.Arg597=) c.2919T>G (p.Arg973=) c.2976T>G (p.Arg992=) c.2973T>G (p.Arg991=) c.2910T>G (p.Arg970=) c.2838T>G (p.Arg946=) c.2778T>G (p.Arg926=) c.2310T>G (p.Arg770=) c.2253T>G (p.Arg751=) c.2916T>G (p.Arg972=) c.2907T>G (p.Arg969=) c.2835T>G (p.Arg945=) c.2712T>G (p.Arg904=) c.2340T>G (p.Arg780=) c.2130T>G (p.Arg710=) c.2127T>G (p.Arg709=) c.2332-612T>G (n.2332-612T>G) | |
2 | g.24823242A>G | CA425171960 | ADCY3 | c.2853T>C (p.Arg951=) c.2850T>C (p.Arg950=) n.122T>C c.1791T>C (p.Arg597=) c.2919T>C (p.Arg973=) c.2976T>C (p.Arg992=) c.2973T>C (p.Arg991=) c.2910T>C (p.Arg970=) c.2838T>C (p.Arg946=) c.2778T>C (p.Arg926=) c.2310T>C (p.Arg770=) c.2253T>C (p.Arg751=) c.2916T>C (p.Arg972=) c.2907T>C (p.Arg969=) c.2835T>C (p.Arg945=) c.2712T>C (p.Arg904=) c.2340T>C (p.Arg780=) c.2130T>C (p.Arg710=) c.2127T>C (p.Arg709=) c.2332-612T>C (n.2332-612T>C) | |
2 | g.24823242A>T | CA425171958 | ADCY3 | c.2853T>A (p.Arg951=) c.2850T>A (p.Arg950=) n.122T>A c.1791T>A (p.Arg597=) c.2919T>A (p.Arg973=) c.2976T>A (p.Arg992=) c.2973T>A (p.Arg991=) c.2910T>A (p.Arg970=) c.2838T>A (p.Arg946=) c.2778T>A (p.Arg926=) c.2310T>A (p.Arg770=) c.2253T>A (p.Arg751=) c.2916T>A (p.Arg972=) c.2907T>A (p.Arg969=) c.2835T>A (p.Arg945=) c.2712T>A (p.Arg904=) c.2340T>A (p.Arg780=) c.2130T>A (p.Arg710=) c.2127T>A (p.Arg709=) c.2332-612T>A (n.2332-612T>A) | |
2 | g.24823243C>A | CA346062559 | ADCY3 | c.2852G>T (p.Arg951Leu) c.2849G>T (p.Arg950Leu) n.121G>T c.1790G>T (p.Arg597Leu) c.2918G>T (p.Arg973Leu) c.2975G>T (p.Arg992Leu) c.2972G>T (p.Arg991Leu) c.2909G>T (p.Arg970Leu) c.2837G>T (p.Arg946Leu) c.2777G>T (p.Arg926Leu) c.2309G>T (p.Arg770Leu) c.2252G>T (p.Arg751Leu) c.2915G>T (p.Arg972Leu) c.2906G>T (p.Arg969Leu) c.2834G>T (p.Arg945Leu) c.2711G>T (p.Arg904Leu) c.2339G>T (p.Arg780Leu) c.2129G>T (p.Arg710Leu) c.2126G>T (p.Arg709Leu) c.2332-613G>T (n.2332-613G>T) | |
2 | g.24823243C= | CA1239072275 | ADCY3 | c.2852G= (p.Arg951=) c.2849G= (p.Arg950=) n.121G= c.1790G= (p.Arg597=) c.2918G= (p.Arg973=) c.2975G= (p.Arg992=) c.2972G= (p.Arg991=) c.2909G= (p.Arg970=) c.2837G= (p.Arg946=) c.2777G= (p.Arg926=) c.2309G= (p.Arg770=) c.2252G= (p.Arg751=) c.2915G= (p.Arg972=) c.2906G= (p.Arg969=) c.2834G= (p.Arg945=) c.2711G= (p.Arg904=) c.2339G= (p.Arg780=) c.2129G= (p.Arg710=) c.2126G= (p.Arg709=) c.2332-613G= (n.2332-613G=) | |
2 | g.24823243C>G | CA346062561 | ADCY3 | c.2852G>C (p.Arg951Pro) c.2849G>C (p.Arg950Pro) n.121G>C c.1790G>C (p.Arg597Pro) c.2918G>C (p.Arg973Pro) c.2975G>C (p.Arg992Pro) c.2972G>C (p.Arg991Pro) c.2909G>C (p.Arg970Pro) c.2837G>C (p.Arg946Pro) c.2777G>C (p.Arg926Pro) c.2309G>C (p.Arg770Pro) c.2252G>C (p.Arg751Pro) c.2915G>C (p.Arg972Pro) c.2906G>C (p.Arg969Pro) c.2834G>C (p.Arg945Pro) c.2711G>C (p.Arg904Pro) c.2339G>C (p.Arg780Pro) c.2129G>C (p.Arg710Pro) c.2126G>C (p.Arg709Pro) c.2332-613G>C (n.2332-613G>C) | |
2 | g.24823243C>T | CA1553604 | ADCY3 | c.2852G>A (p.Arg951His) c.2849G>A (p.Arg950His) n.121G>A c.1790G>A (p.Arg597His) c.2918G>A (p.Arg973His) c.2975G>A (p.Arg992His) c.2972G>A (p.Arg991His) c.2909G>A (p.Arg970His) c.2837G>A (p.Arg946His) c.2777G>A (p.Arg926His) c.2309G>A (p.Arg770His) c.2252G>A (p.Arg751His) c.2915G>A (p.Arg972His) c.2906G>A (p.Arg969His) c.2834G>A (p.Arg945His) c.2711G>A (p.Arg904His) c.2339G>A (p.Arg780His) c.2129G>A (p.Arg710His) c.2126G>A (p.Arg709His) c.2332-613G>A (n.2332-613G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.24823244G>A | CA346062564 | ADCY3 | c.2851C>T (p.Arg951Cys) c.2848C>T (p.Arg950Cys) n.120C>T c.1789C>T (p.Arg597Cys) c.2917C>T (p.Arg973Cys) c.2974C>T (p.Arg992Cys) c.2971C>T (p.Arg991Cys) c.2908C>T (p.Arg970Cys) c.2836C>T (p.Arg946Cys) c.2776C>T (p.Arg926Cys) c.2308C>T (p.Arg770Cys) c.2251C>T (p.Arg751Cys) c.2914C>T (p.Arg972Cys) c.2905C>T (p.Arg969Cys) c.2833C>T (p.Arg945Cys) c.2710C>T (p.Arg904Cys) c.2338C>T (p.Arg780Cys) c.2128C>T (p.Arg710Cys) c.2125C>T (p.Arg709Cys) c.2332-614C>T (n.2332-614C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.24823244G>C | CA346062566 | ADCY3 | c.2851C>G (p.Arg951Gly) c.2848C>G (p.Arg950Gly) n.120C>G c.1789C>G (p.Arg597Gly) c.2917C>G (p.Arg973Gly) c.2974C>G (p.Arg992Gly) c.2971C>G (p.Arg991Gly) c.2908C>G (p.Arg970Gly) c.2836C>G (p.Arg946Gly) c.2776C>G (p.Arg926Gly) c.2308C>G (p.Arg770Gly) c.2251C>G (p.Arg751Gly) c.2914C>G (p.Arg972Gly) c.2905C>G (p.Arg969Gly) c.2833C>G (p.Arg945Gly) c.2710C>G (p.Arg904Gly) c.2338C>G (p.Arg780Gly) c.2128C>G (p.Arg710Gly) c.2125C>G (p.Arg709Gly) c.2332-614C>G (n.2332-614C>G) | |
2 | g.24823244G>T | CA346062569 | ADCY3 | c.2851C>A (p.Arg951Ser) c.2848C>A (p.Arg950Ser) n.120C>A c.1789C>A (p.Arg597Ser) c.2917C>A (p.Arg973Ser) c.2974C>A (p.Arg992Ser) c.2971C>A (p.Arg991Ser) c.2908C>A (p.Arg970Ser) c.2836C>A (p.Arg946Ser) c.2776C>A (p.Arg926Ser) c.2308C>A (p.Arg770Ser) c.2251C>A (p.Arg751Ser) c.2914C>A (p.Arg972Ser) c.2905C>A (p.Arg969Ser) c.2833C>A (p.Arg945Ser) c.2710C>A (p.Arg904Ser) c.2338C>A (p.Arg780Ser) c.2128C>A (p.Arg710Ser) c.2125C>A (p.Arg709Ser) c.2332-614C>A (n.2332-614C>A) | |
2 | g.24823245C>A | CA425171962 | ADCY3 | c.2850G>T (p.Leu950=) c.2847G>T (p.Leu949=) n.119G>T c.1788G>T (p.Leu596=) c.2916G>T (p.Leu972=) c.2973G>T (p.Leu991=) c.2970G>T (p.Leu990=) c.2907G>T (p.Leu969=) c.2835G>T (p.Leu945=) c.2775G>T (p.Leu925=) c.2307G>T (p.Leu769=) c.2250G>T (p.Leu750=) c.2913G>T (p.Leu971=) c.2904G>T (p.Leu968=) c.2832G>T (p.Leu944=) c.2709G>T (p.Leu903=) c.2337G>T (p.Leu779=) c.2127G>T (p.Leu709=) c.2124G>T (p.Leu708=) c.2332-615G>T (n.2332-615G>T) | |
2 | g.24823245C= | CA1239072276 | ADCY3 | c.2850G= (p.Leu950=) c.2847G= (p.Leu949=) n.119G= c.1788G= (p.Leu596=) c.2916G= (p.Leu972=) c.2973G= (p.Leu991=) c.2970G= (p.Leu990=) c.2907G= (p.Leu969=) c.2835G= (p.Leu945=) c.2775G= (p.Leu925=) c.2307G= (p.Leu769=) c.2250G= (p.Leu750=) c.2913G= (p.Leu971=) c.2904G= (p.Leu968=) c.2832G= (p.Leu944=) c.2709G= (p.Leu903=) c.2337G= (p.Leu779=) c.2127G= (p.Leu709=) c.2124G= (p.Leu708=) c.2332-615G= (n.2332-615G=) | |
2 | g.24823245C>G | CA425171963 | ADCY3 | c.2850G>C (p.Leu950=) c.2847G>C (p.Leu949=) n.119G>C c.1788G>C (p.Leu596=) c.2916G>C (p.Leu972=) c.2973G>C (p.Leu991=) c.2970G>C (p.Leu990=) c.2907G>C (p.Leu969=) c.2835G>C (p.Leu945=) c.2775G>C (p.Leu925=) c.2307G>C (p.Leu769=) c.2250G>C (p.Leu750=) c.2913G>C (p.Leu971=) c.2904G>C (p.Leu968=) c.2832G>C (p.Leu944=) c.2709G>C (p.Leu903=) c.2337G>C (p.Leu779=) c.2127G>C (p.Leu709=) c.2124G>C (p.Leu708=) c.2332-615G>C (n.2332-615G>C) | |
2 | g.24823245C>T | CA425171964 | ADCY3 | c.2850G>A (p.Leu950=) c.2847G>A (p.Leu949=) n.119G>A c.1788G>A (p.Leu596=) c.2916G>A (p.Leu972=) c.2973G>A (p.Leu991=) c.2970G>A (p.Leu990=) c.2907G>A (p.Leu969=) c.2835G>A (p.Leu945=) c.2775G>A (p.Leu925=) c.2307G>A (p.Leu769=) c.2250G>A (p.Leu750=) c.2913G>A (p.Leu971=) c.2904G>A (p.Leu968=) c.2832G>A (p.Leu944=) c.2709G>A (p.Leu903=) c.2337G>A (p.Leu779=) c.2127G>A (p.Leu709=) c.2124G>A (p.Leu708=) c.2332-615G>A (n.2332-615G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.24823246A>C | CA346062571 | ADCY3 | c.2849T>G (p.Leu950Arg) c.2846T>G (p.Leu949Arg) n.118T>G c.1787T>G (p.Leu596Arg) c.2915T>G (p.Leu972Arg) c.2972T>G (p.Leu991Arg) c.2969T>G (p.Leu990Arg) c.2906T>G (p.Leu969Arg) c.2834T>G (p.Leu945Arg) c.2774T>G (p.Leu925Arg) c.2306T>G (p.Leu769Arg) c.2249T>G (p.Leu750Arg) c.2912T>G (p.Leu971Arg) c.2903T>G (p.Leu968Arg) c.2831T>G (p.Leu944Arg) c.2708T>G (p.Leu903Arg) c.2336T>G (p.Leu779Arg) c.2126T>G (p.Leu709Arg) c.2123T>G (p.Leu708Arg) c.2332-616T>G (n.2332-616T>G) | |
2 | g.24823246A>G | CA346062572 | ADCY3 | c.2849T>C (p.Leu950Pro) c.2846T>C (p.Leu949Pro) n.118T>C c.1787T>C (p.Leu596Pro) c.2915T>C (p.Leu972Pro) c.2972T>C (p.Leu991Pro) c.2969T>C (p.Leu990Pro) c.2906T>C (p.Leu969Pro) c.2834T>C (p.Leu945Pro) c.2774T>C (p.Leu925Pro) c.2306T>C (p.Leu769Pro) c.2249T>C (p.Leu750Pro) c.2912T>C (p.Leu971Pro) c.2903T>C (p.Leu968Pro) c.2831T>C (p.Leu944Pro) c.2708T>C (p.Leu903Pro) c.2336T>C (p.Leu779Pro) c.2126T>C (p.Leu709Pro) c.2123T>C (p.Leu708Pro) c.2332-616T>C (n.2332-616T>C) | |
2 | g.24823246A>T | CA346062573 | ADCY3 | c.2849T>A (p.Leu950Gln) c.2846T>A (p.Leu949Gln) n.118T>A c.1787T>A (p.Leu596Gln) c.2915T>A (p.Leu972Gln) c.2972T>A (p.Leu991Gln) c.2969T>A (p.Leu990Gln) c.2906T>A (p.Leu969Gln) c.2834T>A (p.Leu945Gln) c.2774T>A (p.Leu925Gln) c.2306T>A (p.Leu769Gln) c.2249T>A (p.Leu750Gln) c.2912T>A (p.Leu971Gln) c.2903T>A (p.Leu968Gln) c.2831T>A (p.Leu944Gln) c.2708T>A (p.Leu903Gln) c.2336T>A (p.Leu779Gln) c.2126T>A (p.Leu709Gln) c.2123T>A (p.Leu708Gln) c.2332-616T>A (n.2332-616T>A) | |
2 | g.24823247G>A | CA425171965 | ADCY3 | c.2848C>T (p.Leu950=) c.2845C>T (p.Leu949=) n.117C>T c.1786C>T (p.Leu596=) c.2914C>T (p.Leu972=) c.2971C>T (p.Leu991=) c.2968C>T (p.Leu990=) c.2905C>T (p.Leu969=) c.2833C>T (p.Leu945=) c.2773C>T (p.Leu925=) c.2305C>T (p.Leu769=) c.2248C>T (p.Leu750=) c.2911C>T (p.Leu971=) c.2902C>T (p.Leu968=) c.2830C>T (p.Leu944=) c.2707C>T (p.Leu903=) c.2335C>T (p.Leu779=) c.2125C>T (p.Leu709=) c.2122C>T (p.Leu708=) c.2332-617C>T (n.2332-617C>T) | |
2 | g.24823247G>C | CA346062575 | ADCY3 | c.2848C>G (p.Leu950Val) c.2845C>G (p.Leu949Val) n.117C>G c.1786C>G (p.Leu596Val) c.2914C>G (p.Leu972Val) c.2971C>G (p.Leu991Val) c.2968C>G (p.Leu990Val) c.2905C>G (p.Leu969Val) c.2833C>G (p.Leu945Val) c.2773C>G (p.Leu925Val) c.2305C>G (p.Leu769Val) c.2248C>G (p.Leu750Val) c.2911C>G (p.Leu971Val) c.2902C>G (p.Leu968Val) c.2830C>G (p.Leu944Val) c.2707C>G (p.Leu903Val) c.2335C>G (p.Leu779Val) c.2125C>G (p.Leu709Val) c.2122C>G (p.Leu708Val) c.2332-617C>G (n.2332-617C>G) | |
2 | g.24823247G>T | CA346062578 | ADCY3 | c.2848C>A (p.Leu950Met) c.2845C>A (p.Leu949Met) n.117C>A c.1786C>A (p.Leu596Met) c.2914C>A (p.Leu972Met) c.2971C>A (p.Leu991Met) c.2968C>A (p.Leu990Met) c.2905C>A (p.Leu969Met) c.2833C>A (p.Leu945Met) c.2773C>A (p.Leu925Met) c.2305C>A (p.Leu769Met) c.2248C>A (p.Leu750Met) c.2911C>A (p.Leu971Met) c.2902C>A (p.Leu968Met) c.2830C>A (p.Leu944Met) c.2707C>A (p.Leu903Met) c.2335C>A (p.Leu779Met) c.2125C>A (p.Leu709Met) c.2122C>A (p.Leu708Met) c.2332-617C>A (n.2332-617C>A) | |
2 | g.24823248A>C | CA346062580 | ADCY3 | c.2847T>G (p.Cys949Trp) c.2844T>G (p.Cys948Trp) n.116T>G c.1785T>G (p.Cys595Trp) c.2913T>G (p.Cys971Trp) c.2970T>G (p.Cys990Trp) c.2967T>G (p.Cys989Trp) c.2904T>G (p.Cys968Trp) c.2832T>G (p.Cys944Trp) c.2772T>G (p.Cys924Trp) c.2304T>G (p.Cys768Trp) c.2247T>G (p.Cys749Trp) c.2910T>G (p.Cys970Trp) c.2901T>G (p.Cys967Trp) c.2829T>G (p.Cys943Trp) c.2706T>G (p.Cys902Trp) c.2334T>G (p.Cys778Trp) c.2124T>G (p.Cys708Trp) c.2121T>G (p.Cys707Trp) c.2332-618T>G (n.2332-618T>G) | |
2 | g.24823248A>G | CA425171967 | ADCY3 | c.2847T>C (p.Cys949=) c.2844T>C (p.Cys948=) n.116T>C c.1785T>C (p.Cys595=) c.2913T>C (p.Cys971=) c.2970T>C (p.Cys990=) c.2967T>C (p.Cys989=) c.2904T>C (p.Cys968=) c.2832T>C (p.Cys944=) c.2772T>C (p.Cys924=) c.2304T>C (p.Cys768=) c.2247T>C (p.Cys749=) c.2910T>C (p.Cys970=) c.2901T>C (p.Cys967=) c.2829T>C (p.Cys943=) c.2706T>C (p.Cys902=) c.2334T>C (p.Cys778=) c.2124T>C (p.Cys708=) c.2121T>C (p.Cys707=) c.2332-618T>C (n.2332-618T>C) | |
2 | g.24823248A>T | CA346062583 | ADCY3 | c.2847T>A (p.Cys949Ter) c.2844T>A (p.Cys948Ter) n.116T>A c.1785T>A (p.Cys595Ter) c.2913T>A (p.Cys971Ter) c.2970T>A (p.Cys990Ter) c.2967T>A (p.Cys989Ter) c.2904T>A (p.Cys968Ter) c.2832T>A (p.Cys944Ter) c.2772T>A (p.Cys924Ter) c.2304T>A (p.Cys768Ter) c.2247T>A (p.Cys749Ter) c.2910T>A (p.Cys970Ter) c.2901T>A (p.Cys967Ter) c.2829T>A (p.Cys943Ter) c.2706T>A (p.Cys902Ter) c.2334T>A (p.Cys778Ter) c.2124T>A (p.Cys708Ter) c.2121T>A (p.Cys707Ter) c.2332-618T>A (n.2332-618T>A) | |
2 | g.24823249C>A | CA346062586 | ADCY3 | c.2846G>T (p.Cys949Phe) c.2843G>T (p.Cys948Phe) n.115G>T c.1784G>T (p.Cys595Phe) c.2912G>T (p.Cys971Phe) c.2969G>T (p.Cys990Phe) c.2966G>T (p.Cys989Phe) c.2903G>T (p.Cys968Phe) c.2831G>T (p.Cys944Phe) c.2771G>T (p.Cys924Phe) c.2303G>T (p.Cys768Phe) c.2246G>T (p.Cys749Phe) c.2909G>T (p.Cys970Phe) c.2900G>T (p.Cys967Phe) c.2828G>T (p.Cys943Phe) c.2705G>T (p.Cys902Phe) c.2333G>T (p.Cys778Phe) c.2123G>T (p.Cys708Phe) c.2120G>T (p.Cys707Phe) c.2332-619G>T (n.2332-619G>T) | |
2 | g.24823249C>G | CA346062591 | ADCY3 | c.2846G>C (p.Cys949Ser) c.2843G>C (p.Cys948Ser) n.115G>C c.1784G>C (p.Cys595Ser) c.2912G>C (p.Cys971Ser) c.2969G>C (p.Cys990Ser) c.2966G>C (p.Cys989Ser) c.2903G>C (p.Cys968Ser) c.2831G>C (p.Cys944Ser) c.2771G>C (p.Cys924Ser) c.2303G>C (p.Cys768Ser) c.2246G>C (p.Cys749Ser) c.2909G>C (p.Cys970Ser) c.2900G>C (p.Cys967Ser) c.2828G>C (p.Cys943Ser) c.2705G>C (p.Cys902Ser) c.2333G>C (p.Cys778Ser) c.2123G>C (p.Cys708Ser) c.2120G>C (p.Cys707Ser) c.2332-619G>C (n.2332-619G>C) | |
2 | g.24823249C>T | CA346062589 | ADCY3 | c.2846G>A (p.Cys949Tyr) c.2843G>A (p.Cys948Tyr) n.115G>A c.1784G>A (p.Cys595Tyr) c.2912G>A (p.Cys971Tyr) c.2969G>A (p.Cys990Tyr) c.2966G>A (p.Cys989Tyr) c.2903G>A (p.Cys968Tyr) c.2831G>A (p.Cys944Tyr) c.2771G>A (p.Cys924Tyr) c.2303G>A (p.Cys768Tyr) c.2246G>A (p.Cys749Tyr) c.2909G>A (p.Cys970Tyr) c.2900G>A (p.Cys967Tyr) c.2828G>A (p.Cys943Tyr) c.2705G>A (p.Cys902Tyr) c.2333G>A (p.Cys778Tyr) c.2123G>A (p.Cys708Tyr) c.2120G>A (p.Cys707Tyr) c.2332-619G>A (n.2332-619G>A) | gnomAD v4 |
2 | g.24823251_24823254del | CA2576692130 | ADCY3 | c.2843_2846del (p.Glu948ValfsTer23) c.2840_2843del (p.Glu947ValfsTer23) n.112_115del c.1781_1784del (p.Glu594ValfsTer23) c.2909_2912del (p.Glu970ValfsTer23) c.2966_2969del (p.Glu989ValfsTer23) c.2963_2966del (p.Glu988ValfsTer23) c.2900_2903del (p.Glu967ValfsTer23) c.2828_2831del (p.Glu943ValfsTer23) c.2768_2771del (p.Glu923ValfsTer23) c.2300_2303del (p.Glu767ValfsTer23) c.2243_2246del (p.Glu748ValfsTer23) c.2906_2909del (p.Glu969ValfsTer23) c.2897_2900del (p.Glu966ValfsTer23) c.2825_2828del (p.Glu942ValfsTer23) c.2702_2705del (p.Glu901ValfsTer23) c.2330_2333del (p.Glu777ValfsTer23) c.2120_2123del (p.Glu707ValfsTer23) c.2117_2120del (p.Glu706ValfsTer23) c.2332-622_2332-619del (n.2332-622_2332-619del) | gnomAD v4 |
2 | g.24823250A>C | CA346062592 | ADCY3 | c.2845T>G (p.Cys949Gly) c.2842T>G (p.Cys948Gly) n.114T>G c.1783T>G (p.Cys595Gly) c.2911T>G (p.Cys971Gly) c.2968T>G (p.Cys990Gly) c.2965T>G (p.Cys989Gly) c.2902T>G (p.Cys968Gly) c.2830T>G (p.Cys944Gly) c.2770T>G (p.Cys924Gly) c.2302T>G (p.Cys768Gly) c.2245T>G (p.Cys749Gly) c.2908T>G (p.Cys970Gly) c.2899T>G (p.Cys967Gly) c.2827T>G (p.Cys943Gly) c.2704T>G (p.Cys902Gly) c.2332T>G (p.Cys778Gly) c.2122T>G (p.Cys708Gly) c.2119T>G (p.Cys707Gly) c.2332-620T>G (n.2332-620T>G) | |
2 | g.24823250A>G | CA346062595 | ADCY3 | c.2845T>C (p.Cys949Arg) c.2842T>C (p.Cys948Arg) n.114T>C c.1783T>C (p.Cys595Arg) c.2911T>C (p.Cys971Arg) c.2968T>C (p.Cys990Arg) c.2965T>C (p.Cys989Arg) c.2902T>C (p.Cys968Arg) c.2830T>C (p.Cys944Arg) c.2770T>C (p.Cys924Arg) c.2302T>C (p.Cys768Arg) c.2245T>C (p.Cys749Arg) c.2908T>C (p.Cys970Arg) c.2899T>C (p.Cys967Arg) c.2827T>C (p.Cys943Arg) c.2704T>C (p.Cys902Arg) c.2332T>C (p.Cys778Arg) c.2122T>C (p.Cys708Arg) c.2119T>C (p.Cys707Arg) c.2332-620T>C (n.2332-620T>C) | gnomAD v4 |
2 | g.24823250A>T | CA346062596 | ADCY3 | c.2845T>A (p.Cys949Ser) c.2842T>A (p.Cys948Ser) n.114T>A c.1783T>A (p.Cys595Ser) c.2911T>A (p.Cys971Ser) c.2968T>A (p.Cys990Ser) c.2965T>A (p.Cys989Ser) c.2902T>A (p.Cys968Ser) c.2830T>A (p.Cys944Ser) c.2770T>A (p.Cys924Ser) c.2302T>A (p.Cys768Ser) c.2245T>A (p.Cys749Ser) c.2908T>A (p.Cys970Ser) c.2899T>A (p.Cys967Ser) c.2827T>A (p.Cys943Ser) c.2704T>A (p.Cys902Ser) c.2332T>A (p.Cys778Ser) c.2122T>A (p.Cys708Ser) c.2119T>A (p.Cys707Ser) c.2332-620T>A (n.2332-620T>A) | |
2 | g.24823251C>A | CA346062597 | ADCY3 | c.2844G>T (p.Glu948Asp) c.2841G>T (p.Glu947Asp) n.113G>T c.1782G>T (p.Glu594Asp) c.2910G>T (p.Glu970Asp) c.2967G>T (p.Glu989Asp) c.2964G>T (p.Glu988Asp) c.2901G>T (p.Glu967Asp) c.2829G>T (p.Glu943Asp) c.2769G>T (p.Glu923Asp) c.2301G>T (p.Glu767Asp) c.2244G>T (p.Glu748Asp) c.2907G>T (p.Glu969Asp) c.2898G>T (p.Glu966Asp) c.2826G>T (p.Glu942Asp) c.2703G>T (p.Glu901Asp) c.2331G>T (p.Glu777Asp) c.2121G>T (p.Glu707Asp) c.2118G>T (p.Glu706Asp) c.2332-621G>T (n.2332-621G>T) | COSMIC |
2 | g.24823251C>G | CA346062598 | ADCY3 | c.2844G>C (p.Glu948Asp) c.2841G>C (p.Glu947Asp) n.113G>C c.1782G>C (p.Glu594Asp) c.2910G>C (p.Glu970Asp) c.2967G>C (p.Glu989Asp) c.2964G>C (p.Glu988Asp) c.2901G>C (p.Glu967Asp) c.2829G>C (p.Glu943Asp) c.2769G>C (p.Glu923Asp) c.2301G>C (p.Glu767Asp) c.2244G>C (p.Glu748Asp) c.2907G>C (p.Glu969Asp) c.2898G>C (p.Glu966Asp) c.2826G>C (p.Glu942Asp) c.2703G>C (p.Glu901Asp) c.2331G>C (p.Glu777Asp) c.2121G>C (p.Glu707Asp) c.2118G>C (p.Glu706Asp) c.2332-621G>C (n.2332-621G>C) | |
2 | g.24823251C>T | CA425171970 | ADCY3 | c.2844G>A (p.Glu948=) c.2841G>A (p.Glu947=) n.113G>A c.1782G>A (p.Glu594=) c.2910G>A (p.Glu970=) c.2967G>A (p.Glu989=) c.2964G>A (p.Glu988=) c.2901G>A (p.Glu967=) c.2829G>A (p.Glu943=) c.2769G>A (p.Glu923=) c.2301G>A (p.Glu767=) c.2244G>A (p.Glu748=) c.2907G>A (p.Glu969=) c.2898G>A (p.Glu966=) c.2826G>A (p.Glu942=) c.2703G>A (p.Glu901=) c.2331G>A (p.Glu777=) c.2121G>A (p.Glu707=) c.2118G>A (p.Glu706=) c.2332-621G>A (n.2332-621G>A) | |
2 | g.24823252T>A | CA346062600 | ADCY3 | c.2843A>T (p.Glu948Val) c.2840A>T (p.Glu947Val) n.112A>T c.1781A>T (p.Glu594Val) c.2909A>T (p.Glu970Val) c.2966A>T (p.Glu989Val) c.2963A>T (p.Glu988Val) c.2900A>T (p.Glu967Val) c.2828A>T (p.Glu943Val) c.2768A>T (p.Glu923Val) c.2300A>T (p.Glu767Val) c.2243A>T (p.Glu748Val) c.2906A>T (p.Glu969Val) c.2897A>T (p.Glu966Val) c.2825A>T (p.Glu942Val) c.2702A>T (p.Glu901Val) c.2330A>T (p.Glu777Val) c.2120A>T (p.Glu707Val) c.2117A>T (p.Glu706Val) c.2332-622A>T (n.2332-622A>T) | COSMIC |
2 | g.24823252T>C | CA346062601 | ADCY3 | c.2843A>G (p.Glu948Gly) c.2840A>G (p.Glu947Gly) n.112A>G c.1781A>G (p.Glu594Gly) c.2909A>G (p.Glu970Gly) c.2966A>G (p.Glu989Gly) c.2963A>G (p.Glu988Gly) c.2900A>G (p.Glu967Gly) c.2828A>G (p.Glu943Gly) c.2768A>G (p.Glu923Gly) c.2300A>G (p.Glu767Gly) c.2243A>G (p.Glu748Gly) c.2906A>G (p.Glu969Gly) c.2897A>G (p.Glu966Gly) c.2825A>G (p.Glu942Gly) c.2702A>G (p.Glu901Gly) c.2330A>G (p.Glu777Gly) c.2120A>G (p.Glu707Gly) c.2117A>G (p.Glu706Gly) c.2332-622A>G (n.2332-622A>G) | |
2 | g.24823252T>G | CA346062602 | ADCY3 | c.2843A>C (p.Glu948Ala) c.2840A>C (p.Glu947Ala) n.112A>C c.1781A>C (p.Glu594Ala) c.2909A>C (p.Glu970Ala) c.2966A>C (p.Glu989Ala) c.2963A>C (p.Glu988Ala) c.2900A>C (p.Glu967Ala) c.2828A>C (p.Glu943Ala) c.2768A>C (p.Glu923Ala) c.2300A>C (p.Glu767Ala) c.2243A>C (p.Glu748Ala) c.2906A>C (p.Glu969Ala) c.2897A>C (p.Glu966Ala) c.2825A>C (p.Glu942Ala) c.2702A>C (p.Glu901Ala) c.2330A>C (p.Glu777Ala) c.2120A>C (p.Glu707Ala) c.2117A>C (p.Glu706Ala) c.2332-622A>C (n.2332-622A>C) | |
2 | g.24823253C>A | CA346062604 | ADCY3 | c.2842G>T (p.Glu948Ter) c.2839G>T (p.Glu947Ter) n.111G>T c.1780G>T (p.Glu594Ter) c.2908G>T (p.Glu970Ter) c.2965G>T (p.Glu989Ter) c.2962G>T (p.Glu988Ter) c.2899G>T (p.Glu967Ter) c.2827G>T (p.Glu943Ter) c.2767G>T (p.Glu923Ter) c.2299G>T (p.Glu767Ter) c.2242G>T (p.Glu748Ter) c.2905G>T (p.Glu969Ter) c.2896G>T (p.Glu966Ter) c.2824G>T (p.Glu942Ter) c.2701G>T (p.Glu901Ter) c.2329G>T (p.Glu777Ter) c.2119G>T (p.Glu707Ter) c.2116G>T (p.Glu706Ter) c.2332-623G>T (n.2332-623G>T) | COSMIC |
2 | g.24823253C>G | CA346062606 | ADCY3 | c.2842G>C (p.Glu948Gln) c.2839G>C (p.Glu947Gln) n.111G>C c.1780G>C (p.Glu594Gln) c.2908G>C (p.Glu970Gln) c.2965G>C (p.Glu989Gln) c.2962G>C (p.Glu988Gln) c.2899G>C (p.Glu967Gln) c.2827G>C (p.Glu943Gln) c.2767G>C (p.Glu923Gln) c.2299G>C (p.Glu767Gln) c.2242G>C (p.Glu748Gln) c.2905G>C (p.Glu969Gln) c.2896G>C (p.Glu966Gln) c.2824G>C (p.Glu942Gln) c.2701G>C (p.Glu901Gln) c.2329G>C (p.Glu777Gln) c.2119G>C (p.Glu707Gln) c.2116G>C (p.Glu706Gln) c.2332-623G>C (n.2332-623G>C) | gnomAD v4 |
2 | g.24823253C>T | CA346062609 | ADCY3 | c.2842G>A (p.Glu948Lys) c.2839G>A (p.Glu947Lys) n.111G>A c.1780G>A (p.Glu594Lys) c.2908G>A (p.Glu970Lys) c.2965G>A (p.Glu989Lys) c.2962G>A (p.Glu988Lys) c.2899G>A (p.Glu967Lys) c.2827G>A (p.Glu943Lys) c.2767G>A (p.Glu923Lys) c.2299G>A (p.Glu767Lys) c.2242G>A (p.Glu748Lys) c.2905G>A (p.Glu969Lys) c.2896G>A (p.Glu966Lys) c.2824G>A (p.Glu942Lys) c.2701G>A (p.Glu901Lys) c.2329G>A (p.Glu777Lys) c.2119G>A (p.Glu707Lys) c.2116G>A (p.Glu706Lys) c.2332-623G>A (n.2332-623G>A) | |
2 | g.24823254A= | CA1239072277 | ADCY3 | c.2841T= (p.Ile947=) c.2838T= (p.Ile946=) n.110T= c.1779T= (p.Ile593=) c.2907T= (p.Ile969=) c.2964T= (p.Ile988=) c.2961T= (p.Ile987=) c.2898T= (p.Ile966=) c.2826T= (p.Ile942=) c.2766T= (p.Ile922=) c.2298T= (p.Ile766=) c.2241T= (p.Ile747=) c.2904T= (p.Ile968=) c.2895T= (p.Ile965=) c.2823T= (p.Ile941=) c.2700T= (p.Ile900=) c.2328T= (p.Ile776=) c.2118T= (p.Ile706=) c.2115T= (p.Ile705=) c.2332-624T= (n.2332-624T=) | |
2 | g.24823254A>C | CA346062613 | ADCY3 | c.2841T>G (p.Ile947Met) c.2838T>G (p.Ile946Met) n.110T>G c.1779T>G (p.Ile593Met) c.2907T>G (p.Ile969Met) c.2964T>G (p.Ile988Met) c.2961T>G (p.Ile987Met) c.2898T>G (p.Ile966Met) c.2826T>G (p.Ile942Met) c.2766T>G (p.Ile922Met) c.2298T>G (p.Ile766Met) c.2241T>G (p.Ile747Met) c.2904T>G (p.Ile968Met) c.2895T>G (p.Ile965Met) c.2823T>G (p.Ile941Met) c.2700T>G (p.Ile900Met) c.2328T>G (p.Ile776Met) c.2118T>G (p.Ile706Met) c.2115T>G (p.Ile705Met) c.2332-624T>G (n.2332-624T>G) | |
2 | g.24823254A>G | CA1553605 | ADCY3 | c.2841T>C (p.Ile947=) c.2838T>C (p.Ile946=) n.110T>C c.1779T>C (p.Ile593=) c.2907T>C (p.Ile969=) c.2964T>C (p.Ile988=) c.2961T>C (p.Ile987=) c.2898T>C (p.Ile966=) c.2826T>C (p.Ile942=) c.2766T>C (p.Ile922=) c.2298T>C (p.Ile766=) c.2241T>C (p.Ile747=) c.2904T>C (p.Ile968=) c.2895T>C (p.Ile965=) c.2823T>C (p.Ile941=) c.2700T>C (p.Ile900=) c.2328T>C (p.Ile776=) c.2118T>C (p.Ile706=) c.2115T>C (p.Ile705=) c.2332-624T>C (n.2332-624T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.24823254A>T | CA1553606 | ADCY3 | c.2841T>A (p.Ile947=) c.2838T>A (p.Ile946=) n.110T>A c.1779T>A (p.Ile593=) c.2907T>A (p.Ile969=) c.2964T>A (p.Ile988=) c.2961T>A (p.Ile987=) c.2898T>A (p.Ile966=) c.2826T>A (p.Ile942=) c.2766T>A (p.Ile922=) c.2298T>A (p.Ile766=) c.2241T>A (p.Ile747=) c.2904T>A (p.Ile968=) c.2895T>A (p.Ile965=) c.2823T>A (p.Ile941=) c.2700T>A (p.Ile900=) c.2328T>A (p.Ile776=) c.2118T>A (p.Ile706=) c.2115T>A (p.Ile705=) c.2332-624T>A (n.2332-624T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.24823255A= | CA1239072278 | ADCY3 | c.2840T= (p.Ile947=) c.2837T= (p.Ile946=) n.109T= c.1778T= (p.Ile593=) c.2906T= (p.Ile969=) c.2963T= (p.Ile988=) c.2960T= (p.Ile987=) c.2897T= (p.Ile966=) c.2825T= (p.Ile942=) c.2765T= (p.Ile922=) c.2297T= (p.Ile766=) c.2240T= (p.Ile747=) c.2903T= (p.Ile968=) c.2894T= (p.Ile965=) c.2822T= (p.Ile941=) c.2699T= (p.Ile900=) c.2327T= (p.Ile776=) c.2117T= (p.Ile706=) c.2114T= (p.Ile705=) c.2332-625T= (n.2332-625T=) | |
2 | g.24823255A>C | CA346062617 | ADCY3 | c.2840T>G (p.Ile947Ser) c.2837T>G (p.Ile946Ser) n.109T>G c.1778T>G (p.Ile593Ser) c.2906T>G (p.Ile969Ser) c.2963T>G (p.Ile988Ser) c.2960T>G (p.Ile987Ser) c.2897T>G (p.Ile966Ser) c.2825T>G (p.Ile942Ser) c.2765T>G (p.Ile922Ser) c.2297T>G (p.Ile766Ser) c.2240T>G (p.Ile747Ser) c.2903T>G (p.Ile968Ser) c.2894T>G (p.Ile965Ser) c.2822T>G (p.Ile941Ser) c.2699T>G (p.Ile900Ser) c.2327T>G (p.Ile776Ser) c.2117T>G (p.Ile706Ser) c.2114T>G (p.Ile705Ser) c.2332-625T>G (n.2332-625T>G) | |
2 | g.24823255A>G | CA346062620 | ADCY3 | c.2840T>C (p.Ile947Thr) c.2837T>C (p.Ile946Thr) n.109T>C c.1778T>C (p.Ile593Thr) c.2906T>C (p.Ile969Thr) c.2963T>C (p.Ile988Thr) c.2960T>C (p.Ile987Thr) c.2897T>C (p.Ile966Thr) c.2825T>C (p.Ile942Thr) c.2765T>C (p.Ile922Thr) c.2297T>C (p.Ile766Thr) c.2240T>C (p.Ile747Thr) c.2903T>C (p.Ile968Thr) c.2894T>C (p.Ile965Thr) c.2822T>C (p.Ile941Thr) c.2699T>C (p.Ile900Thr) c.2327T>C (p.Ile776Thr) c.2117T>C (p.Ile706Thr) c.2114T>C (p.Ile705Thr) c.2332-625T>C (n.2332-625T>C) | dbSNP gnomAD v2 |
2 | g.24823255A>T | CA346062619 | ADCY3 | c.2840T>A (p.Ile947Asn) c.2837T>A (p.Ile946Asn) n.109T>A c.1778T>A (p.Ile593Asn) c.2906T>A (p.Ile969Asn) c.2963T>A (p.Ile988Asn) c.2960T>A (p.Ile987Asn) c.2897T>A (p.Ile966Asn) c.2825T>A (p.Ile942Asn) c.2765T>A (p.Ile922Asn) c.2297T>A (p.Ile766Asn) c.2240T>A (p.Ile747Asn) c.2903T>A (p.Ile968Asn) c.2894T>A (p.Ile965Asn) c.2822T>A (p.Ile941Asn) c.2699T>A (p.Ile900Asn) c.2327T>A (p.Ile776Asn) c.2117T>A (p.Ile706Asn) c.2114T>A (p.Ile705Asn) c.2332-625T>A (n.2332-625T>A) | |
2 | g.24823256T>A | CA346062623 | ADCY3 | c.2839A>T (p.Ile947Phe) c.2836A>T (p.Ile946Phe) n.108A>T c.1777A>T (p.Ile593Phe) c.2905A>T (p.Ile969Phe) c.2962A>T (p.Ile988Phe) c.2959A>T (p.Ile987Phe) c.2896A>T (p.Ile966Phe) c.2824A>T (p.Ile942Phe) c.2764A>T (p.Ile922Phe) c.2296A>T (p.Ile766Phe) c.2239A>T (p.Ile747Phe) c.2902A>T (p.Ile968Phe) c.2893A>T (p.Ile965Phe) c.2821A>T (p.Ile941Phe) c.2698A>T (p.Ile900Phe) c.2326A>T (p.Ile776Phe) c.2116A>T (p.Ile706Phe) c.2113A>T (p.Ile705Phe) c.2332-626A>T (n.2332-626A>T) | |
2 | g.24823256T>C | CA346062627 | ADCY3 | c.2839A>G (p.Ile947Val) c.2836A>G (p.Ile946Val) n.108A>G c.1777A>G (p.Ile593Val) c.2905A>G (p.Ile969Val) c.2962A>G (p.Ile988Val) c.2959A>G (p.Ile987Val) c.2896A>G (p.Ile966Val) c.2824A>G (p.Ile942Val) c.2764A>G (p.Ile922Val) c.2296A>G (p.Ile766Val) c.2239A>G (p.Ile747Val) c.2902A>G (p.Ile968Val) c.2893A>G (p.Ile965Val) c.2821A>G (p.Ile941Val) c.2698A>G (p.Ile900Val) c.2326A>G (p.Ile776Val) c.2116A>G (p.Ile706Val) c.2113A>G (p.Ile705Val) c.2332-626A>G (n.2332-626A>G) | |
2 | g.24823256T>G | CA346062626 | ADCY3 | c.2839A>C (p.Ile947Leu) c.2836A>C (p.Ile946Leu) n.108A>C c.1777A>C (p.Ile593Leu) c.2905A>C (p.Ile969Leu) c.2962A>C (p.Ile988Leu) c.2959A>C (p.Ile987Leu) c.2896A>C (p.Ile966Leu) c.2824A>C (p.Ile942Leu) c.2764A>C (p.Ile922Leu) c.2296A>C (p.Ile766Leu) c.2239A>C (p.Ile747Leu) c.2902A>C (p.Ile968Leu) c.2893A>C (p.Ile965Leu) c.2821A>C (p.Ile941Leu) c.2698A>C (p.Ile900Leu) c.2326A>C (p.Ile776Leu) c.2116A>C (p.Ile706Leu) c.2113A>C (p.Ile705Leu) c.2332-626A>C (n.2332-626A>C) | |
2 | g.24823256dup | CA2576692131 | ADCY3 | c.2839dup (p.Ile947AsnfsTer2) c.2836dup (p.Ile946AsnfsTer2) n.108dup c.1777dup (p.Ile593AsnfsTer2) c.2905dup (p.Ile969AsnfsTer2) c.2962dup (p.Ile988AsnfsTer2) c.2959dup (p.Ile987AsnfsTer2) c.2896dup (p.Ile966AsnfsTer2) c.2824dup (p.Ile942AsnfsTer2) c.2764dup (p.Ile922AsnfsTer2) c.2296dup (p.Ile766AsnfsTer2) c.2239dup (p.Ile747AsnfsTer2) c.2902dup (p.Ile968AsnfsTer2) c.2893dup (p.Ile965AsnfsTer2) c.2821dup (p.Ile941AsnfsTer2) c.2698dup (p.Ile900AsnfsTer2) c.2326dup (p.Ile776AsnfsTer2) c.2116dup (p.Ile706AsnfsTer2) c.2113dup (p.Ile705AsnfsTer2) c.2332-626dup (n.2332-626dup) | |
2 | g.24823257A>C | CA425171977 | ADCY3 | c.2838T>G (p.Gly946=) c.2835T>G (p.Gly945=) n.107T>G c.1776T>G (p.Gly592=) c.2904T>G (p.Gly968=) c.2961T>G (p.Gly987=) c.2958T>G (p.Gly986=) c.2895T>G (p.Gly965=) c.2823T>G (p.Gly941=) c.2763T>G (p.Gly921=) c.2295T>G (p.Gly765=) c.2238T>G (p.Gly746=) c.2901T>G (p.Gly967=) c.2892T>G (p.Gly964=) c.2820T>G (p.Gly940=) c.2697T>G (p.Gly899=) c.2325T>G (p.Gly775=) c.2115T>G (p.Gly705=) c.2112T>G (p.Gly704=) c.2332-627T>G (n.2332-627T>G) | |
2 | g.24823257A>G | CA425171978 | ADCY3 | c.2838T>C (p.Gly946=) c.2835T>C (p.Gly945=) n.107T>C c.1776T>C (p.Gly592=) c.2904T>C (p.Gly968=) c.2961T>C (p.Gly987=) c.2958T>C (p.Gly986=) c.2895T>C (p.Gly965=) c.2823T>C (p.Gly941=) c.2763T>C (p.Gly921=) c.2295T>C (p.Gly765=) c.2238T>C (p.Gly746=) c.2901T>C (p.Gly967=) c.2892T>C (p.Gly964=) c.2820T>C (p.Gly940=) c.2697T>C (p.Gly899=) c.2325T>C (p.Gly775=) c.2115T>C (p.Gly705=) c.2112T>C (p.Gly704=) c.2332-627T>C (n.2332-627T>C) | |
2 | g.24823257A>T | CA425171976 | ADCY3 | c.2838T>A (p.Gly946=) c.2835T>A (p.Gly945=) n.107T>A c.1776T>A (p.Gly592=) c.2904T>A (p.Gly968=) c.2961T>A (p.Gly987=) c.2958T>A (p.Gly986=) c.2895T>A (p.Gly965=) c.2823T>A (p.Gly941=) c.2763T>A (p.Gly921=) c.2295T>A (p.Gly765=) c.2238T>A (p.Gly746=) c.2901T>A (p.Gly967=) c.2892T>A (p.Gly964=) c.2820T>A (p.Gly940=) c.2697T>A (p.Gly899=) c.2325T>A (p.Gly775=) c.2115T>A (p.Gly705=) c.2112T>A (p.Gly704=) c.2332-627T>A (n.2332-627T>A) | |
2 | g.24823258C>A | CA346062630 | ADCY3 | c.2837G>T (p.Gly946Val) c.2834G>T (p.Gly945Val) n.106G>T c.1775G>T (p.Gly592Val) c.2903G>T (p.Gly968Val) c.2960G>T (p.Gly987Val) c.2957G>T (p.Gly986Val) c.2894G>T (p.Gly965Val) c.2822G>T (p.Gly941Val) c.2762G>T (p.Gly921Val) c.2294G>T (p.Gly765Val) c.2237G>T (p.Gly746Val) c.2900G>T (p.Gly967Val) c.2891G>T (p.Gly964Val) c.2819G>T (p.Gly940Val) c.2696G>T (p.Gly899Val) c.2324G>T (p.Gly775Val) c.2114G>T (p.Gly705Val) c.2111G>T (p.Gly704Val) c.2332-628G>T (n.2332-628G>T) | |
2 | g.24823258C>G | CA346062633 | ADCY3 | c.2837G>C (p.Gly946Ala) c.2834G>C (p.Gly945Ala) n.106G>C c.1775G>C (p.Gly592Ala) c.2903G>C (p.Gly968Ala) c.2960G>C (p.Gly987Ala) c.2957G>C (p.Gly986Ala) c.2894G>C (p.Gly965Ala) c.2822G>C (p.Gly941Ala) c.2762G>C (p.Gly921Ala) c.2294G>C (p.Gly765Ala) c.2237G>C (p.Gly746Ala) c.2900G>C (p.Gly967Ala) c.2891G>C (p.Gly964Ala) c.2819G>C (p.Gly940Ala) c.2696G>C (p.Gly899Ala) c.2324G>C (p.Gly775Ala) c.2114G>C (p.Gly705Ala) c.2111G>C (p.Gly704Ala) c.2332-628G>C (n.2332-628G>C) | |
2 | g.24823258C>T | CA346062635 | ADCY3 | c.2837G>A (p.Gly946Asp) c.2834G>A (p.Gly945Asp) n.106G>A c.1775G>A (p.Gly592Asp) c.2903G>A (p.Gly968Asp) c.2960G>A (p.Gly987Asp) c.2957G>A (p.Gly986Asp) c.2894G>A (p.Gly965Asp) c.2822G>A (p.Gly941Asp) c.2762G>A (p.Gly921Asp) c.2294G>A (p.Gly765Asp) c.2237G>A (p.Gly746Asp) c.2900G>A (p.Gly967Asp) c.2891G>A (p.Gly964Asp) c.2819G>A (p.Gly940Asp) c.2696G>A (p.Gly899Asp) c.2324G>A (p.Gly775Asp) c.2114G>A (p.Gly705Asp) c.2111G>A (p.Gly704Asp) c.2332-628G>A (n.2332-628G>A) | |
2 | g.24823259C>A | CA346062638 | ADCY3 | c.2836G>T (p.Gly946Cys) c.2833G>T (p.Gly945Cys) n.105G>T c.1774G>T (p.Gly592Cys) c.2902G>T (p.Gly968Cys) c.2959G>T (p.Gly987Cys) c.2956G>T (p.Gly986Cys) c.2893G>T (p.Gly965Cys) c.2821G>T (p.Gly941Cys) c.2761G>T (p.Gly921Cys) c.2293G>T (p.Gly765Cys) c.2236G>T (p.Gly746Cys) c.2899G>T (p.Gly967Cys) c.2890G>T (p.Gly964Cys) c.2818G>T (p.Gly940Cys) c.2695G>T (p.Gly899Cys) c.2323G>T (p.Gly775Cys) c.2113G>T (p.Gly705Cys) c.2110G>T (p.Gly704Cys) c.2332-629G>T (n.2332-629G>T) | |
2 | g.24823259C>G | CA346062640 | ADCY3 | c.2836G>C (p.Gly946Arg) c.2833G>C (p.Gly945Arg) n.105G>C c.1774G>C (p.Gly592Arg) c.2902G>C (p.Gly968Arg) c.2959G>C (p.Gly987Arg) c.2956G>C (p.Gly986Arg) c.2893G>C (p.Gly965Arg) c.2821G>C (p.Gly941Arg) c.2761G>C (p.Gly921Arg) c.2293G>C (p.Gly765Arg) c.2236G>C (p.Gly746Arg) c.2899G>C (p.Gly967Arg) c.2890G>C (p.Gly964Arg) c.2818G>C (p.Gly940Arg) c.2695G>C (p.Gly899Arg) c.2323G>C (p.Gly775Arg) c.2113G>C (p.Gly705Arg) c.2110G>C (p.Gly704Arg) c.2332-629G>C (n.2332-629G>C) | |
2 | g.24823259C>T | CA346062643 | ADCY3 | c.2836G>A (p.Gly946Ser) c.2833G>A (p.Gly945Ser) n.105G>A c.1774G>A (p.Gly592Ser) c.2902G>A (p.Gly968Ser) c.2959G>A (p.Gly987Ser) c.2956G>A (p.Gly986Ser) c.2893G>A (p.Gly965Ser) c.2821G>A (p.Gly941Ser) c.2761G>A (p.Gly921Ser) c.2293G>A (p.Gly765Ser) c.2236G>A (p.Gly746Ser) c.2899G>A (p.Gly967Ser) c.2890G>A (p.Gly964Ser) c.2818G>A (p.Gly940Ser) c.2695G>A (p.Gly899Ser) c.2323G>A (p.Gly775Ser) c.2113G>A (p.Gly705Ser) c.2110G>A (p.Gly704Ser) c.2332-629G>A (n.2332-629G>A) | |
2 | g.24823260A= | CA1239072279 | ADCY3 | c.2835T= (p.Gly945=) c.2832T= (p.Gly944=) n.104T= c.1773T= (p.Gly591=) c.2901T= (p.Gly967=) c.2958T= (p.Gly986=) c.2955T= (p.Gly985=) c.2892T= (p.Gly964=) c.2820T= (p.Gly940=) c.2760T= (p.Gly920=) c.2292T= (p.Gly764=) c.2235T= (p.Gly745=) c.2898T= (p.Gly966=) c.2889T= (p.Gly963=) c.2817T= (p.Gly939=) c.2694T= (p.Gly898=) c.2322T= (p.Gly774=) c.2112T= (p.Gly704=) c.2109T= (p.Gly703=) c.2332-630T= (n.2332-630T=) | |
2 | g.24823260A>C | CA425171982 | ADCY3 | c.2835T>G (p.Gly945=) c.2832T>G (p.Gly944=) n.104T>G c.1773T>G (p.Gly591=) c.2901T>G (p.Gly967=) c.2958T>G (p.Gly986=) c.2955T>G (p.Gly985=) c.2892T>G (p.Gly964=) c.2820T>G (p.Gly940=) c.2760T>G (p.Gly920=) c.2292T>G (p.Gly764=) c.2235T>G (p.Gly745=) c.2898T>G (p.Gly966=) c.2889T>G (p.Gly963=) c.2817T>G (p.Gly939=) c.2694T>G (p.Gly898=) c.2322T>G (p.Gly774=) c.2112T>G (p.Gly704=) c.2109T>G (p.Gly703=) c.2332-630T>G (n.2332-630T>G) | gnomAD v4 |
2 | g.24823260A>G | CA43682436 | ADCY3 | c.2835T>C (p.Gly945=) c.2832T>C (p.Gly944=) n.104T>C c.1773T>C (p.Gly591=) c.2901T>C (p.Gly967=) c.2958T>C (p.Gly986=) c.2955T>C (p.Gly985=) c.2892T>C (p.Gly964=) c.2820T>C (p.Gly940=) c.2760T>C (p.Gly920=) c.2292T>C (p.Gly764=) c.2235T>C (p.Gly745=) c.2898T>C (p.Gly966=) c.2889T>C (p.Gly963=) c.2817T>C (p.Gly939=) c.2694T>C (p.Gly898=) c.2322T>C (p.Gly774=) c.2112T>C (p.Gly704=) c.2109T>C (p.Gly703=) c.2332-630T>C (n.2332-630T>C) | dbSNP gnomAD v4 |
2 | g.24823260A>T | CA425171983 | ADCY3 | c.2835T>A (p.Gly945=) c.2832T>A (p.Gly944=) n.104T>A c.1773T>A (p.Gly591=) c.2901T>A (p.Gly967=) c.2958T>A (p.Gly986=) c.2955T>A (p.Gly985=) c.2892T>A (p.Gly964=) c.2820T>A (p.Gly940=) c.2760T>A (p.Gly920=) c.2292T>A (p.Gly764=) c.2235T>A (p.Gly745=) c.2898T>A (p.Gly966=) c.2889T>A (p.Gly963=) c.2817T>A (p.Gly939=) c.2694T>A (p.Gly898=) c.2322T>A (p.Gly774=) c.2112T>A (p.Gly704=) c.2109T>A (p.Gly703=) c.2332-630T>A (n.2332-630T>A) | |
2 | g.24823261C>A | CA346062645 | ADCY3 | c.2834G>T (p.Gly945Val) c.2831G>T (p.Gly944Val) n.103G>T c.1772G>T (p.Gly591Val) c.2900G>T (p.Gly967Val) c.2957G>T (p.Gly986Val) c.2954G>T (p.Gly985Val) c.2891G>T (p.Gly964Val) c.2819G>T (p.Gly940Val) c.2759G>T (p.Gly920Val) c.2291G>T (p.Gly764Val) c.2234G>T (p.Gly745Val) c.2897G>T (p.Gly966Val) c.2888G>T (p.Gly963Val) c.2816G>T (p.Gly939Val) c.2693G>T (p.Gly898Val) c.2321G>T (p.Gly774Val) c.2111G>T (p.Gly704Val) c.2108G>T (p.Gly703Val) c.2332-631G>T (n.2332-631G>T) | |
2 | g.24823261C= | CA1239072280 | ADCY3 | c.2834G= (p.Gly945=) c.2831G= (p.Gly944=) n.103G= c.1772G= (p.Gly591=) c.2900G= (p.Gly967=) c.2957G= (p.Gly986=) c.2954G= (p.Gly985=) c.2891G= (p.Gly964=) c.2819G= (p.Gly940=) c.2759G= (p.Gly920=) c.2291G= (p.Gly764=) c.2234G= (p.Gly745=) c.2897G= (p.Gly966=) c.2888G= (p.Gly963=) c.2816G= (p.Gly939=) c.2693G= (p.Gly898=) c.2321G= (p.Gly774=) c.2111G= (p.Gly704=) c.2108G= (p.Gly703=) c.2332-631G= (n.2332-631G=) | |
2 | g.24823261C>G | CA346062648 | ADCY3 | c.2834G>C (p.Gly945Ala) c.2831G>C (p.Gly944Ala) n.103G>C c.1772G>C (p.Gly591Ala) c.2900G>C (p.Gly967Ala) c.2957G>C (p.Gly986Ala) c.2954G>C (p.Gly985Ala) c.2891G>C (p.Gly964Ala) c.2819G>C (p.Gly940Ala) c.2759G>C (p.Gly920Ala) c.2291G>C (p.Gly764Ala) c.2234G>C (p.Gly745Ala) c.2897G>C (p.Gly966Ala) c.2888G>C (p.Gly963Ala) c.2816G>C (p.Gly939Ala) c.2693G>C (p.Gly898Ala) c.2321G>C (p.Gly774Ala) c.2111G>C (p.Gly704Ala) c.2108G>C (p.Gly703Ala) c.2332-631G>C (n.2332-631G>C) | |
2 | g.24823261C>T | CA346062650 | ADCY3 | c.2834G>A (p.Gly945Asp) c.2831G>A (p.Gly944Asp) n.103G>A c.1772G>A (p.Gly591Asp) c.2900G>A (p.Gly967Asp) c.2957G>A (p.Gly986Asp) c.2954G>A (p.Gly985Asp) c.2891G>A (p.Gly964Asp) c.2819G>A (p.Gly940Asp) c.2759G>A (p.Gly920Asp) c.2291G>A (p.Gly764Asp) c.2234G>A (p.Gly745Asp) c.2897G>A (p.Gly966Asp) c.2888G>A (p.Gly963Asp) c.2816G>A (p.Gly939Asp) c.2693G>A (p.Gly898Asp) c.2321G>A (p.Gly774Asp) c.2111G>A (p.Gly704Asp) c.2108G>A (p.Gly703Asp) c.2332-631G>A (n.2332-631G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.24823262C>A | CA346062654 | ADCY3 | c.2833G>T (p.Gly945Cys) c.2830G>T (p.Gly944Cys) n.102G>T c.1771G>T (p.Gly591Cys) c.2899G>T (p.Gly967Cys) c.2956G>T (p.Gly986Cys) c.2953G>T (p.Gly985Cys) c.2890G>T (p.Gly964Cys) c.2818G>T (p.Gly940Cys) c.2758G>T (p.Gly920Cys) c.2290G>T (p.Gly764Cys) c.2233G>T (p.Gly745Cys) c.2896G>T (p.Gly966Cys) c.2887G>T (p.Gly963Cys) c.2815G>T (p.Gly939Cys) c.2692G>T (p.Gly898Cys) c.2320G>T (p.Gly774Cys) c.2110G>T (p.Gly704Cys) c.2107G>T (p.Gly703Cys) c.2332-632G>T (n.2332-632G>T) | |
2 | g.24823262C>G | CA346062653 | ADCY3 | c.2833G>C (p.Gly945Arg) c.2830G>C (p.Gly944Arg) n.102G>C c.1771G>C (p.Gly591Arg) c.2899G>C (p.Gly967Arg) c.2956G>C (p.Gly986Arg) c.2953G>C (p.Gly985Arg) c.2890G>C (p.Gly964Arg) c.2818G>C (p.Gly940Arg) c.2758G>C (p.Gly920Arg) c.2290G>C (p.Gly764Arg) c.2233G>C (p.Gly745Arg) c.2896G>C (p.Gly966Arg) c.2887G>C (p.Gly963Arg) c.2815G>C (p.Gly939Arg) c.2692G>C (p.Gly898Arg) c.2320G>C (p.Gly774Arg) c.2110G>C (p.Gly704Arg) c.2107G>C (p.Gly703Arg) c.2332-632G>C (n.2332-632G>C) | |
2 | g.24823262C>T | CA346062651 | ADCY3 | c.2833G>A (p.Gly945Ser) c.2830G>A (p.Gly944Ser) n.102G>A c.1771G>A (p.Gly591Ser) c.2899G>A (p.Gly967Ser) c.2956G>A (p.Gly986Ser) c.2953G>A (p.Gly985Ser) c.2890G>A (p.Gly964Ser) c.2818G>A (p.Gly940Ser) c.2758G>A (p.Gly920Ser) c.2290G>A (p.Gly764Ser) c.2233G>A (p.Gly745Ser) c.2896G>A (p.Gly966Ser) c.2887G>A (p.Gly963Ser) c.2815G>A (p.Gly939Ser) c.2692G>A (p.Gly898Ser) c.2320G>A (p.Gly774Ser) c.2110G>A (p.Gly704Ser) c.2107G>A (p.Gly703Ser) c.2332-632G>A (n.2332-632G>A) | |
2 | g.24823263A= | CA1239072281 | ADCY3 | c.2832T= (p.Asn944=) c.2829T= (p.Asn943=) n.101T= c.1770T= (p.Asn590=) c.2898T= (p.Asn966=) c.2955T= (p.Asn985=) c.2952T= (p.Asn984=) c.2889T= (p.Asn963=) c.2817T= (p.Asn939=) c.2757T= (p.Asn919=) c.2289T= (p.Asn763=) c.2232T= (p.Asn744=) c.2895T= (p.Asn965=) c.2886T= (p.Asn962=) c.2814T= (p.Asn938=) c.2691T= (p.Asn897=) c.2319T= (p.Asn773=) c.2109T= (p.Asn703=) c.2106T= (p.Asn702=) c.2332-633T= (n.2332-633T=) | |
2 | g.24823263A>C | CA346062656 | ADCY3 | c.2832T>G (p.Asn944Lys) c.2829T>G (p.Asn943Lys) n.101T>G c.1770T>G (p.Asn590Lys) c.2898T>G (p.Asn966Lys) c.2955T>G (p.Asn985Lys) c.2952T>G (p.Asn984Lys) c.2889T>G (p.Asn963Lys) c.2817T>G (p.Asn939Lys) c.2757T>G (p.Asn919Lys) c.2289T>G (p.Asn763Lys) c.2232T>G (p.Asn744Lys) c.2895T>G (p.Asn965Lys) c.2886T>G (p.Asn962Lys) c.2814T>G (p.Asn938Lys) c.2691T>G (p.Asn897Lys) c.2319T>G (p.Asn773Lys) c.2109T>G (p.Asn703Lys) c.2106T>G (p.Asn702Lys) c.2332-633T>G (n.2332-633T>G) | |
2 | g.24823263A>G | CA1553607 | ADCY3 | c.2832T>C (p.Asn944=) c.2829T>C (p.Asn943=) n.101T>C c.1770T>C (p.Asn590=) c.2898T>C (p.Asn966=) c.2955T>C (p.Asn985=) c.2952T>C (p.Asn984=) c.2889T>C (p.Asn963=) c.2817T>C (p.Asn939=) c.2757T>C (p.Asn919=) c.2289T>C (p.Asn763=) c.2232T>C (p.Asn744=) c.2895T>C (p.Asn965=) c.2886T>C (p.Asn962=) c.2814T>C (p.Asn938=) c.2691T>C (p.Asn897=) c.2319T>C (p.Asn773=) c.2109T>C (p.Asn703=) c.2106T>C (p.Asn702=) c.2332-633T>C (n.2332-633T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.24823263A>T | CA346062660 | ADCY3 | c.2832T>A (p.Asn944Lys) c.2829T>A (p.Asn943Lys) n.101T>A c.1770T>A (p.Asn590Lys) c.2898T>A (p.Asn966Lys) c.2955T>A (p.Asn985Lys) c.2952T>A (p.Asn984Lys) c.2889T>A (p.Asn963Lys) c.2817T>A (p.Asn939Lys) c.2757T>A (p.Asn919Lys) c.2289T>A (p.Asn763Lys) c.2232T>A (p.Asn744Lys) c.2895T>A (p.Asn965Lys) c.2886T>A (p.Asn962Lys) c.2814T>A (p.Asn938Lys) c.2691T>A (p.Asn897Lys) c.2319T>A (p.Asn773Lys) c.2109T>A (p.Asn703Lys) c.2106T>A (p.Asn702Lys) c.2332-633T>A (n.2332-633T>A) | |
2 | g.24823264T>A | CA346062662 | ADCY3 | c.2831A>T (p.Asn944Ile) c.2828A>T (p.Asn943Ile) n.100A>T c.1769A>T (p.Asn590Ile) c.2897A>T (p.Asn966Ile) c.2954A>T (p.Asn985Ile) c.2951A>T (p.Asn984Ile) c.2888A>T (p.Asn963Ile) c.2816A>T (p.Asn939Ile) c.2756A>T (p.Asn919Ile) c.2288A>T (p.Asn763Ile) c.2231A>T (p.Asn744Ile) c.2894A>T (p.Asn965Ile) c.2885A>T (p.Asn962Ile) c.2813A>T (p.Asn938Ile) c.2690A>T (p.Asn897Ile) c.2318A>T (p.Asn773Ile) c.2108A>T (p.Asn703Ile) c.2105A>T (p.Asn702Ile) c.2332-634A>T (n.2332-634A>T) | |
2 | g.24823264T>C | CA346062664 | ADCY3 | c.2831A>G (p.Asn944Ser) c.2828A>G (p.Asn943Ser) n.100A>G c.1769A>G (p.Asn590Ser) c.2897A>G (p.Asn966Ser) c.2954A>G (p.Asn985Ser) c.2951A>G (p.Asn984Ser) c.2888A>G (p.Asn963Ser) c.2816A>G (p.Asn939Ser) c.2756A>G (p.Asn919Ser) c.2288A>G (p.Asn763Ser) c.2231A>G (p.Asn744Ser) c.2894A>G (p.Asn965Ser) c.2885A>G (p.Asn962Ser) c.2813A>G (p.Asn938Ser) c.2690A>G (p.Asn897Ser) c.2318A>G (p.Asn773Ser) c.2108A>G (p.Asn703Ser) c.2105A>G (p.Asn702Ser) c.2332-634A>G (n.2332-634A>G) | gnomAD v4 |
2 | g.24823264T>G | CA346062665 | ADCY3 | c.2831A>C (p.Asn944Thr) c.2828A>C (p.Asn943Thr) n.100A>C c.1769A>C (p.Asn590Thr) c.2897A>C (p.Asn966Thr) c.2954A>C (p.Asn985Thr) c.2951A>C (p.Asn984Thr) c.2888A>C (p.Asn963Thr) c.2816A>C (p.Asn939Thr) c.2756A>C (p.Asn919Thr) c.2288A>C (p.Asn763Thr) c.2231A>C (p.Asn744Thr) c.2894A>C (p.Asn965Thr) c.2885A>C (p.Asn962Thr) c.2813A>C (p.Asn938Thr) c.2690A>C (p.Asn897Thr) c.2318A>C (p.Asn773Thr) c.2108A>C (p.Asn703Thr) c.2105A>C (p.Asn702Thr) c.2332-634A>C (n.2332-634A>C) | |
2 | g.24823265T>A | CA346062668 | ADCY3 | c.2830A>T (p.Asn944Tyr) c.2827A>T (p.Asn943Tyr) n.99A>T c.1768A>T (p.Asn590Tyr) c.2896A>T (p.Asn966Tyr) c.2953A>T (p.Asn985Tyr) c.2950A>T (p.Asn984Tyr) c.2887A>T (p.Asn963Tyr) c.2815A>T (p.Asn939Tyr) c.2755A>T (p.Asn919Tyr) c.2287A>T (p.Asn763Tyr) c.2230A>T (p.Asn744Tyr) c.2893A>T (p.Asn965Tyr) c.2884A>T (p.Asn962Tyr) c.2812A>T (p.Asn938Tyr) c.2689A>T (p.Asn897Tyr) c.2317A>T (p.Asn773Tyr) c.2107A>T (p.Asn703Tyr) c.2104A>T (p.Asn702Tyr) c.2332-635A>T (n.2332-635A>T) | |
2 | g.24823265T>C | CA346062669 | ADCY3 | c.2830A>G (p.Asn944Asp) c.2827A>G (p.Asn943Asp) n.99A>G c.1768A>G (p.Asn590Asp) c.2896A>G (p.Asn966Asp) c.2953A>G (p.Asn985Asp) c.2950A>G (p.Asn984Asp) c.2887A>G (p.Asn963Asp) c.2815A>G (p.Asn939Asp) c.2755A>G (p.Asn919Asp) c.2287A>G (p.Asn763Asp) c.2230A>G (p.Asn744Asp) c.2893A>G (p.Asn965Asp) c.2884A>G (p.Asn962Asp) c.2812A>G (p.Asn938Asp) c.2689A>G (p.Asn897Asp) c.2317A>G (p.Asn773Asp) c.2107A>G (p.Asn703Asp) c.2104A>G (p.Asn702Asp) c.2332-635A>G (n.2332-635A>G) | |
2 | g.24823265T>G | CA346062671 | ADCY3 | c.2830A>C (p.Asn944His) c.2827A>C (p.Asn943His) n.99A>C c.1768A>C (p.Asn590His) c.2896A>C (p.Asn966His) c.2953A>C (p.Asn985His) c.2950A>C (p.Asn984His) c.2887A>C (p.Asn963His) c.2815A>C (p.Asn939His) c.2755A>C (p.Asn919His) c.2287A>C (p.Asn763His) c.2230A>C (p.Asn744His) c.2893A>C (p.Asn965His) c.2884A>C (p.Asn962His) c.2812A>C (p.Asn938His) c.2689A>C (p.Asn897His) c.2317A>C (p.Asn773His) c.2107A>C (p.Asn703His) c.2104A>C (p.Asn702His) c.2332-635A>C (n.2332-635A>C) | |
2 | g.24823266G>A | CA425171985 | ADCY3 | c.2829C>T (p.Asn943=) c.2826C>T (p.Asn942=) n.98C>T c.1767C>T (p.Asn589=) c.2895C>T (p.Asn965=) c.2952C>T (p.Asn984=) c.2949C>T (p.Asn983=) c.2886C>T (p.Asn962=) c.2814C>T (p.Asn938=) c.2754C>T (p.Asn918=) c.2286C>T (p.Asn762=) c.2229C>T (p.Asn743=) c.2892C>T (p.Asn964=) c.2883C>T (p.Asn961=) c.2811C>T (p.Asn937=) c.2688C>T (p.Asn896=) c.2316C>T (p.Asn772=) c.2106C>T (p.Asn702=) c.2103C>T (p.Asn701=) c.2332-636C>T (n.2332-636C>T) | dbSNP gnomAD v4 |
2 | g.24823266G>C | CA346062672 | ADCY3 | c.2829C>G (p.Asn943Lys) c.2826C>G (p.Asn942Lys) n.98C>G c.1767C>G (p.Asn589Lys) c.2895C>G (p.Asn965Lys) c.2952C>G (p.Asn984Lys) c.2949C>G (p.Asn983Lys) c.2886C>G (p.Asn962Lys) c.2814C>G (p.Asn938Lys) c.2754C>G (p.Asn918Lys) c.2286C>G (p.Asn762Lys) c.2229C>G (p.Asn743Lys) c.2892C>G (p.Asn964Lys) c.2883C>G (p.Asn961Lys) c.2811C>G (p.Asn937Lys) c.2688C>G (p.Asn896Lys) c.2316C>G (p.Asn772Lys) c.2106C>G (p.Asn702Lys) c.2103C>G (p.Asn701Lys) c.2332-636C>G (n.2332-636C>G) | |
2 | g.24823266G>T | CA346062674 | ADCY3 | c.2829C>A (p.Asn943Lys) c.2826C>A (p.Asn942Lys) n.98C>A c.1767C>A (p.Asn589Lys) c.2895C>A (p.Asn965Lys) c.2952C>A (p.Asn984Lys) c.2949C>A (p.Asn983Lys) c.2886C>A (p.Asn962Lys) c.2814C>A (p.Asn938Lys) c.2754C>A (p.Asn918Lys) c.2286C>A (p.Asn762Lys) c.2229C>A (p.Asn743Lys) c.2892C>A (p.Asn964Lys) c.2883C>A (p.Asn961Lys) c.2811C>A (p.Asn937Lys) c.2688C>A (p.Asn896Lys) c.2316C>A (p.Asn772Lys) c.2106C>A (p.Asn702Lys) c.2103C>A (p.Asn701Lys) c.2332-636C>A (n.2332-636C>A) | |
2 | g.24823267T>A | CA346062681 | ADCY3 | c.2828A>T (p.Asn943Ile) c.2825A>T (p.Asn942Ile) n.97A>T c.1766A>T (p.Asn589Ile) c.2894A>T (p.Asn965Ile) c.2951A>T (p.Asn984Ile) c.2948A>T (p.Asn983Ile) c.2885A>T (p.Asn962Ile) c.2813A>T (p.Asn938Ile) c.2753A>T (p.Asn918Ile) c.2285A>T (p.Asn762Ile) c.2228A>T (p.Asn743Ile) c.2891A>T (p.Asn964Ile) c.2882A>T (p.Asn961Ile) c.2810A>T (p.Asn937Ile) c.2687A>T (p.Asn896Ile) c.2315A>T (p.Asn772Ile) c.2105A>T (p.Asn702Ile) c.2102A>T (p.Asn701Ile) c.2332-637A>T (n.2332-637A>T) | |
2 | g.24823267T>C | CA346062679 | ADCY3 | c.2828A>G (p.Asn943Ser) c.2825A>G (p.Asn942Ser) n.97A>G c.1766A>G (p.Asn589Ser) c.2894A>G (p.Asn965Ser) c.2951A>G (p.Asn984Ser) c.2948A>G (p.Asn983Ser) c.2885A>G (p.Asn962Ser) c.2813A>G (p.Asn938Ser) c.2753A>G (p.Asn918Ser) c.2285A>G (p.Asn762Ser) c.2228A>G (p.Asn743Ser) c.2891A>G (p.Asn964Ser) c.2882A>G (p.Asn961Ser) c.2810A>G (p.Asn937Ser) c.2687A>G (p.Asn896Ser) c.2315A>G (p.Asn772Ser) c.2105A>G (p.Asn702Ser) c.2102A>G (p.Asn701Ser) c.2332-637A>G (n.2332-637A>G) | |
2 | g.24823267T>G | CA346062677 | ADCY3 | c.2828A>C (p.Asn943Thr) c.2825A>C (p.Asn942Thr) n.97A>C c.1766A>C (p.Asn589Thr) c.2894A>C (p.Asn965Thr) c.2951A>C (p.Asn984Thr) c.2948A>C (p.Asn983Thr) c.2885A>C (p.Asn962Thr) c.2813A>C (p.Asn938Thr) c.2753A>C (p.Asn918Thr) c.2285A>C (p.Asn762Thr) c.2228A>C (p.Asn743Thr) c.2891A>C (p.Asn964Thr) c.2882A>C (p.Asn961Thr) c.2810A>C (p.Asn937Thr) c.2687A>C (p.Asn896Thr) c.2315A>C (p.Asn772Thr) c.2105A>C (p.Asn702Thr) c.2102A>C (p.Asn701Thr) c.2332-637A>C (n.2332-637A>C) | |
2 | g.24823268T>A | CA346062684 | ADCY3 | c.2827A>T (p.Asn943Tyr) c.2824A>T (p.Asn942Tyr) n.96A>T c.1765A>T (p.Asn589Tyr) c.2893A>T (p.Asn965Tyr) c.2950A>T (p.Asn984Tyr) c.2947A>T (p.Asn983Tyr) c.2884A>T (p.Asn962Tyr) c.2812A>T (p.Asn938Tyr) c.2752A>T (p.Asn918Tyr) c.2284A>T (p.Asn762Tyr) c.2227A>T (p.Asn743Tyr) c.2890A>T (p.Asn964Tyr) c.2881A>T (p.Asn961Tyr) c.2809A>T (p.Asn937Tyr) c.2686A>T (p.Asn896Tyr) c.2314A>T (p.Asn772Tyr) c.2104A>T (p.Asn702Tyr) c.2101A>T (p.Asn701Tyr) c.2332-638A>T (n.2332-638A>T) | |
2 | g.24823268T>C | CA346062686 | ADCY3 | c.2827A>G (p.Asn943Asp) c.2824A>G (p.Asn942Asp) n.96A>G c.1765A>G (p.Asn589Asp) c.2893A>G (p.Asn965Asp) c.2950A>G (p.Asn984Asp) c.2947A>G (p.Asn983Asp) c.2884A>G (p.Asn962Asp) c.2812A>G (p.Asn938Asp) c.2752A>G (p.Asn918Asp) c.2284A>G (p.Asn762Asp) c.2227A>G (p.Asn743Asp) c.2890A>G (p.Asn964Asp) c.2881A>G (p.Asn961Asp) c.2809A>G (p.Asn937Asp) c.2686A>G (p.Asn896Asp) c.2314A>G (p.Asn772Asp) c.2104A>G (p.Asn702Asp) c.2101A>G (p.Asn701Asp) c.2332-638A>G (n.2332-638A>G) | |
2 | g.24823268T>G | CA346062688 | ADCY3 | c.2827A>C (p.Asn943His) c.2824A>C (p.Asn942His) n.96A>C c.1765A>C (p.Asn589His) c.2893A>C (p.Asn965His) c.2950A>C (p.Asn984His) c.2947A>C (p.Asn983His) c.2884A>C (p.Asn962His) c.2812A>C (p.Asn938His) c.2752A>C (p.Asn918His) c.2284A>C (p.Asn762His) c.2227A>C (p.Asn743His) c.2890A>C (p.Asn964His) c.2881A>C (p.Asn961His) c.2809A>C (p.Asn937His) c.2686A>C (p.Asn896His) c.2314A>C (p.Asn772His) c.2104A>C (p.Asn702His) c.2101A>C (p.Asn701His) c.2332-638A>C (n.2332-638A>C) | |
2 | g.24823269G>A | CA425171987 | ADCY3 | c.2826C>T (p.Ile942=) c.2823C>T (p.Ile941=) n.95C>T c.1764C>T (p.Ile588=) c.2892C>T (p.Ile964=) c.2949C>T (p.Ile983=) c.2946C>T (p.Ile982=) c.2883C>T (p.Ile961=) c.2811C>T (p.Ile937=) c.2751C>T (p.Ile917=) c.2283C>T (p.Ile761=) c.2226C>T (p.Ile742=) c.2889C>T (p.Ile963=) c.2880C>T (p.Ile960=) c.2808C>T (p.Ile936=) c.2685C>T (p.Ile895=) c.2313C>T (p.Ile771=) c.2103C>T (p.Ile701=) c.2100C>T (p.Ile700=) c.2332-639C>T (n.2332-639C>T) | dbSNP |
2 | g.24823269G>C | CA346062690 | ADCY3 | c.2826C>G (p.Ile942Met) c.2823C>G (p.Ile941Met) n.95C>G c.1764C>G (p.Ile588Met) c.2892C>G (p.Ile964Met) c.2949C>G (p.Ile983Met) c.2946C>G (p.Ile982Met) c.2883C>G (p.Ile961Met) c.2811C>G (p.Ile937Met) c.2751C>G (p.Ile917Met) c.2283C>G (p.Ile761Met) c.2226C>G (p.Ile742Met) c.2889C>G (p.Ile963Met) c.2880C>G (p.Ile960Met) c.2808C>G (p.Ile936Met) c.2685C>G (p.Ile895Met) c.2313C>G (p.Ile771Met) c.2103C>G (p.Ile701Met) c.2100C>G (p.Ile700Met) c.2332-639C>G (n.2332-639C>G) | |
2 | g.24823269G= | CA1239072282 | ADCY3 | c.2826C= (p.Ile942=) c.2823C= (p.Ile941=) n.95C= c.1764C= (p.Ile588=) c.2892C= (p.Ile964=) c.2949C= (p.Ile983=) c.2946C= (p.Ile982=) c.2883C= (p.Ile961=) c.2811C= (p.Ile937=) c.2751C= (p.Ile917=) c.2283C= (p.Ile761=) c.2226C= (p.Ile742=) c.2889C= (p.Ile963=) c.2880C= (p.Ile960=) c.2808C= (p.Ile936=) c.2685C= (p.Ile895=) c.2313C= (p.Ile771=) c.2103C= (p.Ile701=) c.2100C= (p.Ile700=) c.2332-639C= (n.2332-639C=) | |
2 | g.24823269G>T | CA425171986 | ADCY3 | c.2826C>A (p.Ile942=) c.2823C>A (p.Ile941=) n.95C>A c.1764C>A (p.Ile588=) c.2892C>A (p.Ile964=) c.2949C>A (p.Ile983=) c.2946C>A (p.Ile982=) c.2883C>A (p.Ile961=) c.2811C>A (p.Ile937=) c.2751C>A (p.Ile917=) c.2283C>A (p.Ile761=) c.2226C>A (p.Ile742=) c.2889C>A (p.Ile963=) c.2880C>A (p.Ile960=) c.2808C>A (p.Ile936=) c.2685C>A (p.Ile895=) c.2313C>A (p.Ile771=) c.2103C>A (p.Ile701=) c.2100C>A (p.Ile700=) c.2332-639C>A (n.2332-639C>A) | gnomAD v4 |
2 | g.24823270A>C | CA346062693 | ADCY3 | c.2825T>G (p.Ile942Ser) c.2822T>G (p.Ile941Ser) n.94T>G c.1763T>G (p.Ile588Ser) c.2891T>G (p.Ile964Ser) c.2948T>G (p.Ile983Ser) c.2945T>G (p.Ile982Ser) c.2882T>G (p.Ile961Ser) c.2810T>G (p.Ile937Ser) c.2750T>G (p.Ile917Ser) c.2282T>G (p.Ile761Ser) c.2225T>G (p.Ile742Ser) c.2888T>G (p.Ile963Ser) c.2879T>G (p.Ile960Ser) c.2807T>G (p.Ile936Ser) c.2684T>G (p.Ile895Ser) c.2312T>G (p.Ile771Ser) c.2102T>G (p.Ile701Ser) c.2099T>G (p.Ile700Ser) c.2332-640T>G (n.2332-640T>G) | |
2 | g.24823270A>G | CA346062696 | ADCY3 | c.2825T>C (p.Ile942Thr) c.2822T>C (p.Ile941Thr) n.94T>C c.1763T>C (p.Ile588Thr) c.2891T>C (p.Ile964Thr) c.2948T>C (p.Ile983Thr) c.2945T>C (p.Ile982Thr) c.2882T>C (p.Ile961Thr) c.2810T>C (p.Ile937Thr) c.2750T>C (p.Ile917Thr) c.2282T>C (p.Ile761Thr) c.2225T>C (p.Ile742Thr) c.2888T>C (p.Ile963Thr) c.2879T>C (p.Ile960Thr) c.2807T>C (p.Ile936Thr) c.2684T>C (p.Ile895Thr) c.2312T>C (p.Ile771Thr) c.2102T>C (p.Ile701Thr) c.2099T>C (p.Ile700Thr) c.2332-640T>C (n.2332-640T>C) | gnomAD v4 |
2 | g.24823270A>T | CA346062698 | ADCY3 | c.2825T>A (p.Ile942Asn) c.2822T>A (p.Ile941Asn) n.94T>A c.1763T>A (p.Ile588Asn) c.2891T>A (p.Ile964Asn) c.2948T>A (p.Ile983Asn) c.2945T>A (p.Ile982Asn) c.2882T>A (p.Ile961Asn) c.2810T>A (p.Ile937Asn) c.2750T>A (p.Ile917Asn) c.2282T>A (p.Ile761Asn) c.2225T>A (p.Ile742Asn) c.2888T>A (p.Ile963Asn) c.2879T>A (p.Ile960Asn) c.2807T>A (p.Ile936Asn) c.2684T>A (p.Ile895Asn) c.2312T>A (p.Ile771Asn) c.2102T>A (p.Ile701Asn) c.2099T>A (p.Ile700Asn) c.2332-640T>A (n.2332-640T>A) | |
2 | g.24823271T>A | CA346062699 | ADCY3 | c.2824A>T (p.Ile942Phe) c.2821A>T (p.Ile941Phe) n.93A>T c.1762A>T (p.Ile588Phe) c.2890A>T (p.Ile964Phe) c.2947A>T (p.Ile983Phe) c.2944A>T (p.Ile982Phe) c.2881A>T (p.Ile961Phe) c.2809A>T (p.Ile937Phe) c.2749A>T (p.Ile917Phe) c.2281A>T (p.Ile761Phe) c.2224A>T (p.Ile742Phe) c.2887A>T (p.Ile963Phe) c.2878A>T (p.Ile960Phe) c.2806A>T (p.Ile936Phe) c.2683A>T (p.Ile895Phe) c.2311A>T (p.Ile771Phe) c.2101A>T (p.Ile701Phe) c.2098A>T (p.Ile700Phe) c.2332-641A>T (n.2332-641A>T) | |
2 | g.24823271T>C | CA346062702 | ADCY3 | c.2824A>G (p.Ile942Val) c.2821A>G (p.Ile941Val) n.93A>G c.1762A>G (p.Ile588Val) c.2890A>G (p.Ile964Val) c.2947A>G (p.Ile983Val) c.2944A>G (p.Ile982Val) c.2881A>G (p.Ile961Val) c.2809A>G (p.Ile937Val) c.2749A>G (p.Ile917Val) c.2281A>G (p.Ile761Val) c.2224A>G (p.Ile742Val) c.2887A>G (p.Ile963Val) c.2878A>G (p.Ile960Val) c.2806A>G (p.Ile936Val) c.2683A>G (p.Ile895Val) c.2311A>G (p.Ile771Val) c.2101A>G (p.Ile701Val) c.2098A>G (p.Ile700Val) c.2332-641A>G (n.2332-641A>G) | gnomAD v4 |
2 | g.24823271T>G | CA346062703 | ADCY3 | c.2824A>C (p.Ile942Leu) c.2821A>C (p.Ile941Leu) n.93A>C c.1762A>C (p.Ile588Leu) c.2890A>C (p.Ile964Leu) c.2947A>C (p.Ile983Leu) c.2944A>C (p.Ile982Leu) c.2881A>C (p.Ile961Leu) c.2809A>C (p.Ile937Leu) c.2749A>C (p.Ile917Leu) c.2281A>C (p.Ile761Leu) c.2224A>C (p.Ile742Leu) c.2887A>C (p.Ile963Leu) c.2878A>C (p.Ile960Leu) c.2806A>C (p.Ile936Leu) c.2683A>C (p.Ile895Leu) c.2311A>C (p.Ile771Leu) c.2101A>C (p.Ile701Leu) c.2098A>C (p.Ile700Leu) c.2332-641A>C (n.2332-641A>C) | |
2 | g.24823272G>A | CA1553608 | ADCY3 | c.2823C>T (p.Ser941=) c.2820C>T (p.Ser940=) n.92C>T c.1761C>T (p.Ser587=) c.2889C>T (p.Ser963=) c.2946C>T (p.Ser982=) c.2943C>T (p.Ser981=) c.2880C>T (p.Ser960=) c.2808C>T (p.Ser936=) c.2748C>T (p.Ser916=) c.2280C>T (p.Ser760=) c.2223C>T (p.Ser741=) c.2886C>T (p.Ser962=) c.2877C>T (p.Ser959=) c.2805C>T (p.Ser935=) c.2682C>T (p.Ser894=) c.2310C>T (p.Ser770=) c.2100C>T (p.Ser700=) c.2097C>T (p.Ser699=) c.2332-642C>T (n.2332-642C>T) | dbSNP ExAC gnomAD v4 |
2 | g.24823272G>C | CA346062708 | ADCY3 | c.2823C>G (p.Ser941Arg) c.2820C>G (p.Ser940Arg) n.92C>G c.1761C>G (p.Ser587Arg) c.2889C>G (p.Ser963Arg) c.2946C>G (p.Ser982Arg) c.2943C>G (p.Ser981Arg) c.2880C>G (p.Ser960Arg) c.2808C>G (p.Ser936Arg) c.2748C>G (p.Ser916Arg) c.2280C>G (p.Ser760Arg) c.2223C>G (p.Ser741Arg) c.2886C>G (p.Ser962Arg) c.2877C>G (p.Ser959Arg) c.2805C>G (p.Ser935Arg) c.2682C>G (p.Ser894Arg) c.2310C>G (p.Ser770Arg) c.2100C>G (p.Ser700Arg) c.2097C>G (p.Ser699Arg) c.2332-642C>G (n.2332-642C>G) | |
2 | g.24823272G= | CA1239072283 | ADCY3 | c.2823C= (p.Ser941=) c.2820C= (p.Ser940=) n.92C= c.1761C= (p.Ser587=) c.2889C= (p.Ser963=) c.2946C= (p.Ser982=) c.2943C= (p.Ser981=) c.2880C= (p.Ser960=) c.2808C= (p.Ser936=) c.2748C= (p.Ser916=) c.2280C= (p.Ser760=) c.2223C= (p.Ser741=) c.2886C= (p.Ser962=) c.2877C= (p.Ser959=) c.2805C= (p.Ser935=) c.2682C= (p.Ser894=) c.2310C= (p.Ser770=) c.2100C= (p.Ser700=) c.2097C= (p.Ser699=) c.2332-642C= (n.2332-642C=) | |
2 | g.24823272G>T | CA346062710 | ADCY3 | c.2823C>A (p.Ser941Arg) c.2820C>A (p.Ser940Arg) n.92C>A c.1761C>A (p.Ser587Arg) c.2889C>A (p.Ser963Arg) c.2946C>A (p.Ser982Arg) c.2943C>A (p.Ser981Arg) c.2880C>A (p.Ser960Arg) c.2808C>A (p.Ser936Arg) c.2748C>A (p.Ser916Arg) c.2280C>A (p.Ser760Arg) c.2223C>A (p.Ser741Arg) c.2886C>A (p.Ser962Arg) c.2877C>A (p.Ser959Arg) c.2805C>A (p.Ser935Arg) c.2682C>A (p.Ser894Arg) c.2310C>A (p.Ser770Arg) c.2100C>A (p.Ser700Arg) c.2097C>A (p.Ser699Arg) c.2332-642C>A (n.2332-642C>A) | |
2 | g.24823273C>A | CA346062711 | ADCY3 | c.2822G>T (p.Ser941Ile) c.2819G>T (p.Ser940Ile) n.91G>T c.1760G>T (p.Ser587Ile) c.2888G>T (p.Ser963Ile) c.2945G>T (p.Ser982Ile) c.2942G>T (p.Ser981Ile) c.2879G>T (p.Ser960Ile) c.2807G>T (p.Ser936Ile) c.2747G>T (p.Ser916Ile) c.2279G>T (p.Ser760Ile) c.2222G>T (p.Ser741Ile) c.2885G>T (p.Ser962Ile) c.2876G>T (p.Ser959Ile) c.2804G>T (p.Ser935Ile) c.2681G>T (p.Ser894Ile) c.2309G>T (p.Ser770Ile) c.2099G>T (p.Ser700Ile) c.2096G>T (p.Ser699Ile) c.2332-643G>T (n.2332-643G>T) | |
2 | g.24823273C>G | CA346062723 | ADCY3 | c.2822G>C (p.Ser941Thr) c.2819G>C (p.Ser940Thr) n.91G>C c.1760G>C (p.Ser587Thr) c.2888G>C (p.Ser963Thr) c.2945G>C (p.Ser982Thr) c.2942G>C (p.Ser981Thr) c.2879G>C (p.Ser960Thr) c.2807G>C (p.Ser936Thr) c.2747G>C (p.Ser916Thr) c.2279G>C (p.Ser760Thr) c.2222G>C (p.Ser741Thr) c.2885G>C (p.Ser962Thr) c.2876G>C (p.Ser959Thr) c.2804G>C (p.Ser935Thr) c.2681G>C (p.Ser894Thr) c.2309G>C (p.Ser770Thr) c.2099G>C (p.Ser700Thr) c.2096G>C (p.Ser699Thr) c.2332-643G>C (n.2332-643G>C) | gnomAD v4 |
2 | g.24823273C>T | CA346062714 | ADCY3 | c.2822G>A (p.Ser941Asn) c.2819G>A (p.Ser940Asn) n.91G>A c.1760G>A (p.Ser587Asn) c.2888G>A (p.Ser963Asn) c.2945G>A (p.Ser982Asn) c.2942G>A (p.Ser981Asn) c.2879G>A (p.Ser960Asn) c.2807G>A (p.Ser936Asn) c.2747G>A (p.Ser916Asn) c.2279G>A (p.Ser760Asn) c.2222G>A (p.Ser741Asn) c.2885G>A (p.Ser962Asn) c.2876G>A (p.Ser959Asn) c.2804G>A (p.Ser935Asn) c.2681G>A (p.Ser894Asn) c.2309G>A (p.Ser770Asn) c.2099G>A (p.Ser700Asn) c.2096G>A (p.Ser699Asn) c.2332-643G>A (n.2332-643G>A) | gnomAD v4 |
2 | g.24823274T>A | CA346062725 | ADCY3 | c.2821A>T (p.Ser941Cys) c.2818A>T (p.Ser940Cys) n.90A>T c.1759A>T (p.Ser587Cys) c.2887A>T (p.Ser963Cys) c.2944A>T (p.Ser982Cys) c.2941A>T (p.Ser981Cys) c.2878A>T (p.Ser960Cys) c.2806A>T (p.Ser936Cys) c.2746A>T (p.Ser916Cys) c.2278A>T (p.Ser760Cys) c.2221A>T (p.Ser741Cys) c.2884A>T (p.Ser962Cys) c.2875A>T (p.Ser959Cys) c.2803A>T (p.Ser935Cys) c.2680A>T (p.Ser894Cys) c.2308A>T (p.Ser770Cys) c.2098A>T (p.Ser700Cys) c.2095A>T (p.Ser699Cys) c.2332-644A>T (n.2332-644A>T) | |
2 | g.24823274T>C | CA346062728 | ADCY3 | c.2821A>G (p.Ser941Gly) c.2818A>G (p.Ser940Gly) n.90A>G c.1759A>G (p.Ser587Gly) c.2887A>G (p.Ser963Gly) c.2944A>G (p.Ser982Gly) c.2941A>G (p.Ser981Gly) c.2878A>G (p.Ser960Gly) c.2806A>G (p.Ser936Gly) c.2746A>G (p.Ser916Gly) c.2278A>G (p.Ser760Gly) c.2221A>G (p.Ser741Gly) c.2884A>G (p.Ser962Gly) c.2875A>G (p.Ser959Gly) c.2803A>G (p.Ser935Gly) c.2680A>G (p.Ser894Gly) c.2308A>G (p.Ser770Gly) c.2098A>G (p.Ser700Gly) c.2095A>G (p.Ser699Gly) c.2332-644A>G (n.2332-644A>G) | |
2 | g.24823274T>G | CA346062733 | ADCY3 | c.2821A>C (p.Ser941Arg) c.2818A>C (p.Ser940Arg) n.90A>C c.1759A>C (p.Ser587Arg) c.2887A>C (p.Ser963Arg) c.2944A>C (p.Ser982Arg) c.2941A>C (p.Ser981Arg) c.2878A>C (p.Ser960Arg) c.2806A>C (p.Ser936Arg) c.2746A>C (p.Ser916Arg) c.2278A>C (p.Ser760Arg) c.2221A>C (p.Ser741Arg) c.2884A>C (p.Ser962Arg) c.2875A>C (p.Ser959Arg) c.2803A>C (p.Ser935Arg) c.2680A>C (p.Ser894Arg) c.2308A>C (p.Ser770Arg) c.2098A>C (p.Ser700Arg) c.2095A>C (p.Ser699Arg) c.2332-644A>C (n.2332-644A>C) | |
2 | g.24823275C>A | CA346062737 | ADCY3 | c.2820G>T (p.Glu940Asp) c.2817G>T (p.Glu939Asp) n.89G>T c.1758G>T (p.Glu586Asp) c.2886G>T (p.Glu962Asp) c.2943G>T (p.Glu981Asp) c.2940G>T (p.Glu980Asp) c.2877G>T (p.Glu959Asp) c.2805G>T (p.Glu935Asp) c.2745G>T (p.Glu915Asp) c.2277G>T (p.Glu759Asp) c.2220G>T (p.Glu740Asp) c.2883G>T (p.Glu961Asp) c.2874G>T (p.Glu958Asp) c.2802G>T (p.Glu934Asp) c.2679G>T (p.Glu893Asp) c.2307G>T (p.Glu769Asp) c.2097G>T (p.Glu699Asp) c.2094G>T (p.Glu698Asp) c.2332-645G>T (n.2332-645G>T) | |
2 | g.24823275C= | CA1239072284 | ADCY3 | c.2820G= (p.Glu940=) c.2817G= (p.Glu939=) n.89G= c.1758G= (p.Glu586=) c.2886G= (p.Glu962=) c.2943G= (p.Glu981=) c.2940G= (p.Glu980=) c.2877G= (p.Glu959=) c.2805G= (p.Glu935=) c.2745G= (p.Glu915=) c.2277G= (p.Glu759=) c.2220G= (p.Glu740=) c.2883G= (p.Glu961=) c.2874G= (p.Glu958=) c.2802G= (p.Glu934=) c.2679G= (p.Glu893=) c.2307G= (p.Glu769=) c.2097G= (p.Glu699=) c.2094G= (p.Glu698=) c.2332-645G= (n.2332-645G=) | |
2 | g.24823275C>G | CA346062739 | ADCY3 | c.2820G>C (p.Glu940Asp) c.2817G>C (p.Glu939Asp) n.89G>C c.1758G>C (p.Glu586Asp) c.2886G>C (p.Glu962Asp) c.2943G>C (p.Glu981Asp) c.2940G>C (p.Glu980Asp) c.2877G>C (p.Glu959Asp) c.2805G>C (p.Glu935Asp) c.2745G>C (p.Glu915Asp) c.2277G>C (p.Glu759Asp) c.2220G>C (p.Glu740Asp) c.2883G>C (p.Glu961Asp) c.2874G>C (p.Glu958Asp) c.2802G>C (p.Glu934Asp) c.2679G>C (p.Glu893Asp) c.2307G>C (p.Glu769Asp) c.2097G>C (p.Glu699Asp) c.2094G>C (p.Glu698Asp) c.2332-645G>C (n.2332-645G>C) | dbSNP |
2 | g.24823275C>T | CA425171988 | ADCY3 | c.2820G>A (p.Glu940=) c.2817G>A (p.Glu939=) n.89G>A c.1758G>A (p.Glu586=) c.2886G>A (p.Glu962=) c.2943G>A (p.Glu981=) c.2940G>A (p.Glu980=) c.2877G>A (p.Glu959=) c.2805G>A (p.Glu935=) c.2745G>A (p.Glu915=) c.2277G>A (p.Glu759=) c.2220G>A (p.Glu740=) c.2883G>A (p.Glu961=) c.2874G>A (p.Glu958=) c.2802G>A (p.Glu934=) c.2679G>A (p.Glu893=) c.2307G>A (p.Glu769=) c.2097G>A (p.Glu699=) c.2094G>A (p.Glu698=) c.2332-645G>A (n.2332-645G>A) | |
2 | g.24823276T>A | CA346062741 | ADCY3 | c.2819A>T (p.Glu940Val) c.2816A>T (p.Glu939Val) n.88A>T c.1757A>T (p.Glu586Val) c.2885A>T (p.Glu962Val) c.2942A>T (p.Glu981Val) c.2939A>T (p.Glu980Val) c.2876A>T (p.Glu959Val) c.2804A>T (p.Glu935Val) c.2744A>T (p.Glu915Val) c.2276A>T (p.Glu759Val) c.2219A>T (p.Glu740Val) c.2882A>T (p.Glu961Val) c.2873A>T (p.Glu958Val) c.2801A>T (p.Glu934Val) c.2678A>T (p.Glu893Val) c.2306A>T (p.Glu769Val) c.2096A>T (p.Glu699Val) c.2093A>T (p.Glu698Val) c.2332-646A>T (n.2332-646A>T) | |
2 | g.24823276T>C | CA346062743 | ADCY3 | c.2819A>G (p.Glu940Gly) c.2816A>G (p.Glu939Gly) n.88A>G c.1757A>G (p.Glu586Gly) c.2885A>G (p.Glu962Gly) c.2942A>G (p.Glu981Gly) c.2939A>G (p.Glu980Gly) c.2876A>G (p.Glu959Gly) c.2804A>G (p.Glu935Gly) c.2744A>G (p.Glu915Gly) c.2276A>G (p.Glu759Gly) c.2219A>G (p.Glu740Gly) c.2882A>G (p.Glu961Gly) c.2873A>G (p.Glu958Gly) c.2801A>G (p.Glu934Gly) c.2678A>G (p.Glu893Gly) c.2306A>G (p.Glu769Gly) c.2096A>G (p.Glu699Gly) c.2093A>G (p.Glu698Gly) c.2332-646A>G (n.2332-646A>G) | |
2 | g.24823276T>G | CA346062746 | ADCY3 | c.2819A>C (p.Glu940Ala) c.2816A>C (p.Glu939Ala) n.88A>C c.1757A>C (p.Glu586Ala) c.2885A>C (p.Glu962Ala) c.2942A>C (p.Glu981Ala) c.2939A>C (p.Glu980Ala) c.2876A>C (p.Glu959Ala) c.2804A>C (p.Glu935Ala) c.2744A>C (p.Glu915Ala) c.2276A>C (p.Glu759Ala) c.2219A>C (p.Glu740Ala) c.2882A>C (p.Glu961Ala) c.2873A>C (p.Glu958Ala) c.2801A>C (p.Glu934Ala) c.2678A>C (p.Glu893Ala) c.2306A>C (p.Glu769Ala) c.2096A>C (p.Glu699Ala) c.2093A>C (p.Glu698Ala) c.2332-646A>C (n.2332-646A>C) | |
2 | g.24823277C>A | CA346062756 | ADCY3 | c.2818G>T (p.Glu940Ter) c.2815G>T (p.Glu939Ter) n.87G>T c.1756G>T (p.Glu586Ter) c.2884G>T (p.Glu962Ter) c.2941G>T (p.Glu981Ter) c.2938G>T (p.Glu980Ter) c.2875G>T (p.Glu959Ter) c.2803G>T (p.Glu935Ter) c.2743G>T (p.Glu915Ter) c.2275G>T (p.Glu759Ter) c.2218G>T (p.Glu740Ter) c.2881G>T (p.Glu961Ter) c.2872G>T (p.Glu958Ter) c.2800G>T (p.Glu934Ter) c.2677G>T (p.Glu893Ter) c.2305G>T (p.Glu769Ter) c.2095G>T (p.Glu699Ter) c.2092G>T (p.Glu698Ter) c.2332-647G>T (n.2332-647G>T) | |
2 | g.24823277C>G | CA346062758 | ADCY3 | c.2818G>C (p.Glu940Gln) c.2815G>C (p.Glu939Gln) n.87G>C c.1756G>C (p.Glu586Gln) c.2884G>C (p.Glu962Gln) c.2941G>C (p.Glu981Gln) c.2938G>C (p.Glu980Gln) c.2875G>C (p.Glu959Gln) c.2803G>C (p.Glu935Gln) c.2743G>C (p.Glu915Gln) c.2275G>C (p.Glu759Gln) c.2218G>C (p.Glu740Gln) c.2881G>C (p.Glu961Gln) c.2872G>C (p.Glu958Gln) c.2800G>C (p.Glu934Gln) c.2677G>C (p.Glu893Gln) c.2305G>C (p.Glu769Gln) c.2095G>C (p.Glu699Gln) c.2092G>C (p.Glu698Gln) c.2332-647G>C (n.2332-647G>C) | |
2 | g.24823277C>T | CA346062760 | ADCY3 | c.2818G>A (p.Glu940Lys) c.2815G>A (p.Glu939Lys) n.87G>A c.1756G>A (p.Glu586Lys) c.2884G>A (p.Glu962Lys) c.2941G>A (p.Glu981Lys) c.2938G>A (p.Glu980Lys) c.2875G>A (p.Glu959Lys) c.2803G>A (p.Glu935Lys) c.2743G>A (p.Glu915Lys) c.2275G>A (p.Glu759Lys) c.2218G>A (p.Glu740Lys) c.2881G>A (p.Glu961Lys) c.2872G>A (p.Glu958Lys) c.2800G>A (p.Glu934Lys) c.2677G>A (p.Glu893Lys) c.2305G>A (p.Glu769Lys) c.2095G>A (p.Glu699Lys) c.2092G>A (p.Glu698Lys) c.2332-647G>A (n.2332-647G>A) | |
2 | g.24823278C>A | CA346062764 | ADCY3 | c.2817G>T (p.Glu939Asp) c.2814G>T (p.Glu938Asp) n.86G>T c.1755G>T (p.Glu585Asp) c.2883G>T (p.Glu961Asp) c.2940G>T (p.Glu980Asp) c.2937G>T (p.Glu979Asp) c.2874G>T (p.Glu958Asp) c.2802G>T (p.Glu934Asp) c.2742G>T (p.Glu914Asp) c.2274G>T (p.Glu758Asp) c.2217G>T (p.Glu739Asp) c.2880G>T (p.Glu960Asp) c.2871G>T (p.Glu957Asp) c.2799G>T (p.Glu933Asp) c.2676G>T (p.Glu892Asp) c.2304G>T (p.Glu768Asp) c.2094G>T (p.Glu698Asp) c.2091G>T (p.Glu697Asp) c.2332-648G>T (n.2332-648G>T) | |
2 | g.24823278C>G | CA346062763 | ADCY3 | c.2817G>C (p.Glu939Asp) c.2814G>C (p.Glu938Asp) n.86G>C c.1755G>C (p.Glu585Asp) c.2883G>C (p.Glu961Asp) c.2940G>C (p.Glu980Asp) c.2937G>C (p.Glu979Asp) c.2874G>C (p.Glu958Asp) c.2802G>C (p.Glu934Asp) c.2742G>C (p.Glu914Asp) c.2274G>C (p.Glu758Asp) c.2217G>C (p.Glu739Asp) c.2880G>C (p.Glu960Asp) c.2871G>C (p.Glu957Asp) c.2799G>C (p.Glu933Asp) c.2676G>C (p.Glu892Asp) c.2304G>C (p.Glu768Asp) c.2094G>C (p.Glu698Asp) c.2091G>C (p.Glu697Asp) c.2332-648G>C (n.2332-648G>C) | |
2 | g.24823278C>T | CA425171989 | ADCY3 | c.2817G>A (p.Glu939=) c.2814G>A (p.Glu938=) n.86G>A c.1755G>A (p.Glu585=) c.2883G>A (p.Glu961=) c.2940G>A (p.Glu980=) c.2937G>A (p.Glu979=) c.2874G>A (p.Glu958=) c.2802G>A (p.Glu934=) c.2742G>A (p.Glu914=) c.2274G>A (p.Glu758=) c.2217G>A (p.Glu739=) c.2880G>A (p.Glu960=) c.2871G>A (p.Glu957=) c.2799G>A (p.Glu933=) c.2676G>A (p.Glu892=) c.2304G>A (p.Glu768=) c.2094G>A (p.Glu698=) c.2091G>A (p.Glu697=) c.2332-648G>A (n.2332-648G>A) | |
2 | g.24823279T>A | CA346062773 | ADCY3 | c.2816A>T (p.Glu939Val) c.2813A>T (p.Glu938Val) n.85A>T c.1754A>T (p.Glu585Val) c.2882A>T (p.Glu961Val) c.2939A>T (p.Glu980Val) c.2936A>T (p.Glu979Val) c.2873A>T (p.Glu958Val) c.2801A>T (p.Glu934Val) c.2741A>T (p.Glu914Val) c.2273A>T (p.Glu758Val) c.2216A>T (p.Glu739Val) c.2879A>T (p.Glu960Val) c.2870A>T (p.Glu957Val) c.2798A>T (p.Glu933Val) c.2675A>T (p.Glu892Val) c.2303A>T (p.Glu768Val) c.2093A>T (p.Glu698Val) c.2090A>T (p.Glu697Val) c.2332-649A>T (n.2332-649A>T) | |
2 | g.24823279T>C | CA346062781 | ADCY3 | c.2816A>G (p.Glu939Gly) c.2813A>G (p.Glu938Gly) n.85A>G c.1754A>G (p.Glu585Gly) c.2882A>G (p.Glu961Gly) c.2939A>G (p.Glu980Gly) c.2936A>G (p.Glu979Gly) c.2873A>G (p.Glu958Gly) c.2801A>G (p.Glu934Gly) c.2741A>G (p.Glu914Gly) c.2273A>G (p.Glu758Gly) c.2216A>G (p.Glu739Gly) c.2879A>G (p.Glu960Gly) c.2870A>G (p.Glu957Gly) c.2798A>G (p.Glu933Gly) c.2675A>G (p.Glu892Gly) c.2303A>G (p.Glu768Gly) c.2093A>G (p.Glu698Gly) c.2090A>G (p.Glu697Gly) c.2332-649A>G (n.2332-649A>G) | |
2 | g.24823279T>G | CA346062774 | ADCY3 | c.2816A>C (p.Glu939Ala) c.2813A>C (p.Glu938Ala) n.85A>C c.1754A>C (p.Glu585Ala) c.2882A>C (p.Glu961Ala) c.2939A>C (p.Glu980Ala) c.2936A>C (p.Glu979Ala) c.2873A>C (p.Glu958Ala) c.2801A>C (p.Glu934Ala) c.2741A>C (p.Glu914Ala) c.2273A>C (p.Glu758Ala) c.2216A>C (p.Glu739Ala) c.2879A>C (p.Glu960Ala) c.2870A>C (p.Glu957Ala) c.2798A>C (p.Glu933Ala) c.2675A>C (p.Glu892Ala) c.2303A>C (p.Glu768Ala) c.2093A>C (p.Glu698Ala) c.2090A>C (p.Glu697Ala) c.2332-649A>C (n.2332-649A>C) | |
2 | g.24823280C>A | CA346062784 | ADCY3 | c.2815G>T (p.Glu939Ter) c.2812G>T (p.Glu938Ter) n.84G>T c.1753G>T (p.Glu585Ter) c.2881G>T (p.Glu961Ter) c.2938G>T (p.Glu980Ter) c.2935G>T (p.Glu979Ter) c.2872G>T (p.Glu958Ter) c.2800G>T (p.Glu934Ter) c.2740G>T (p.Glu914Ter) c.2272G>T (p.Glu758Ter) c.2215G>T (p.Glu739Ter) c.2878G>T (p.Glu960Ter) c.2869G>T (p.Glu957Ter) c.2797G>T (p.Glu933Ter) c.2674G>T (p.Glu892Ter) c.2302G>T (p.Glu768Ter) c.2092G>T (p.Glu698Ter) c.2089G>T (p.Glu697Ter) c.2332-650G>T (n.2332-650G>T) | |
2 | g.24823280C>G | CA346062787 | ADCY3 | c.2815G>C (p.Glu939Gln) c.2812G>C (p.Glu938Gln) n.84G>C c.1753G>C (p.Glu585Gln) c.2881G>C (p.Glu961Gln) c.2938G>C (p.Glu980Gln) c.2935G>C (p.Glu979Gln) c.2872G>C (p.Glu958Gln) c.2800G>C (p.Glu934Gln) c.2740G>C (p.Glu914Gln) c.2272G>C (p.Glu758Gln) c.2215G>C (p.Glu739Gln) c.2878G>C (p.Glu960Gln) c.2869G>C (p.Glu957Gln) c.2797G>C (p.Glu933Gln) c.2674G>C (p.Glu892Gln) c.2302G>C (p.Glu768Gln) c.2092G>C (p.Glu698Gln) c.2089G>C (p.Glu697Gln) c.2332-650G>C (n.2332-650G>C) | |
2 | g.24823280C>T | CA346062789 | ADCY3 | c.2815G>A (p.Glu939Lys) c.2812G>A (p.Glu938Lys) n.84G>A c.1753G>A (p.Glu585Lys) c.2881G>A (p.Glu961Lys) c.2938G>A (p.Glu980Lys) c.2935G>A (p.Glu979Lys) c.2872G>A (p.Glu958Lys) c.2800G>A (p.Glu934Lys) c.2740G>A (p.Glu914Lys) c.2272G>A (p.Glu758Lys) c.2215G>A (p.Glu739Lys) c.2878G>A (p.Glu960Lys) c.2869G>A (p.Glu957Lys) c.2797G>A (p.Glu933Lys) c.2674G>A (p.Glu892Lys) c.2302G>A (p.Glu768Lys) c.2092G>A (p.Glu698Lys) c.2089G>A (p.Glu697Lys) c.2332-650G>A (n.2332-650G>A) | |
2 | g.24823281T>A | CA425171990 | ADCY3 | c.2814A>T (p.Thr938=) c.2811A>T (p.Thr937=) n.83A>T c.1752A>T (p.Thr584=) c.2880A>T (p.Thr960=) c.2937A>T (p.Thr979=) c.2934A>T (p.Thr978=) c.2871A>T (p.Thr957=) c.2799A>T (p.Thr933=) c.2739A>T (p.Thr913=) c.2271A>T (p.Thr757=) c.2214A>T (p.Thr738=) c.2877A>T (p.Thr959=) c.2868A>T (p.Thr956=) c.2796A>T (p.Thr932=) c.2673A>T (p.Thr891=) c.2301A>T (p.Thr767=) c.2091A>T (p.Thr697=) c.2088A>T (p.Thr696=) c.2332-651A>T (n.2332-651A>T) | |
2 | g.24823281T>C | CA425171991 | ADCY3 | c.2814A>G (p.Thr938=) c.2811A>G (p.Thr937=) n.83A>G c.1752A>G (p.Thr584=) c.2880A>G (p.Thr960=) c.2937A>G (p.Thr979=) c.2934A>G (p.Thr978=) c.2871A>G (p.Thr957=) c.2799A>G (p.Thr933=) c.2739A>G (p.Thr913=) c.2271A>G (p.Thr757=) c.2214A>G (p.Thr738=) c.2877A>G (p.Thr959=) c.2868A>G (p.Thr956=) c.2796A>G (p.Thr932=) c.2673A>G (p.Thr891=) c.2301A>G (p.Thr767=) c.2091A>G (p.Thr697=) c.2088A>G (p.Thr696=) c.2332-651A>G (n.2332-651A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.24823281T>G | CA425171992 | ADCY3 | c.2814A>C (p.Thr938=) c.2811A>C (p.Thr937=) n.83A>C c.1752A>C (p.Thr584=) c.2880A>C (p.Thr960=) c.2937A>C (p.Thr979=) c.2934A>C (p.Thr978=) c.2871A>C (p.Thr957=) c.2799A>C (p.Thr933=) c.2739A>C (p.Thr913=) c.2271A>C (p.Thr757=) c.2214A>C (p.Thr738=) c.2877A>C (p.Thr959=) c.2868A>C (p.Thr956=) c.2796A>C (p.Thr932=) c.2673A>C (p.Thr891=) c.2301A>C (p.Thr767=) c.2091A>C (p.Thr697=) c.2088A>C (p.Thr696=) c.2332-651A>C (n.2332-651A>C) | |
2 | g.24823281T= | CA1239072285 | ADCY3 | c.2814A= (p.Thr938=) c.2811A= (p.Thr937=) n.83A= c.1752A= (p.Thr584=) c.2880A= (p.Thr960=) c.2937A= (p.Thr979=) c.2934A= (p.Thr978=) c.2871A= (p.Thr957=) c.2799A= (p.Thr933=) c.2739A= (p.Thr913=) c.2271A= (p.Thr757=) c.2214A= (p.Thr738=) c.2877A= (p.Thr959=) c.2868A= (p.Thr956=) c.2796A= (p.Thr932=) c.2673A= (p.Thr891=) c.2301A= (p.Thr767=) c.2091A= (p.Thr697=) c.2088A= (p.Thr696=) c.2332-651A= (n.2332-651A=) | |
2 | g.24823284_24823285del | CA2749194185 | ADCY3 | c.2813_2814del (p.Thr938ArgfsTer10) c.2810_2811del (p.Thr937ArgfsTer10) n.82_83del c.1751_1752del (p.Thr584ArgfsTer10) c.2879_2880del (p.Thr960ArgfsTer10) c.2936_2937del (p.Thr979ArgfsTer10) c.2933_2934del (p.Thr978ArgfsTer10) c.2870_2871del (p.Thr957ArgfsTer10) c.2798_2799del (p.Thr933ArgfsTer10) c.2738_2739del (p.Thr913ArgfsTer10) c.2270_2271del (p.Thr757ArgfsTer10) c.2213_2214del (p.Thr738ArgfsTer10) c.2876_2877del (p.Thr959ArgfsTer10) c.2867_2868del (p.Thr956ArgfsTer10) c.2795_2796del (p.Thr932ArgfsTer10) c.2672_2673del (p.Thr891ArgfsTer10) c.2300_2301del (p.Thr767ArgfsTer10) c.2090_2091del (p.Thr697ArgfsTer10) c.2087_2088del (p.Thr696ArgfsTer10) c.2332-652_2332-651del (n.2332-652_2332-651del) | |
2 | g.24823282G>A | CA1553609 | ADCY3 | c.2813C>T (p.Thr938Ile) c.2810C>T (p.Thr937Ile) n.82C>T c.1751C>T (p.Thr584Ile) c.2879C>T (p.Thr960Ile) c.2936C>T (p.Thr979Ile) c.2933C>T (p.Thr978Ile) c.2870C>T (p.Thr957Ile) c.2798C>T (p.Thr933Ile) c.2738C>T (p.Thr913Ile) c.2270C>T (p.Thr757Ile) c.2213C>T (p.Thr738Ile) c.2876C>T (p.Thr959Ile) c.2867C>T (p.Thr956Ile) c.2795C>T (p.Thr932Ile) c.2672C>T (p.Thr891Ile) c.2300C>T (p.Thr767Ile) c.2090C>T (p.Thr697Ile) c.2087C>T (p.Thr696Ile) c.2332-652C>T (n.2332-652C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.24823282G>C | CA346062792 | ADCY3 | c.2813C>G (p.Thr938Arg) c.2810C>G (p.Thr937Arg) n.82C>G c.1751C>G (p.Thr584Arg) c.2879C>G (p.Thr960Arg) c.2936C>G (p.Thr979Arg) c.2933C>G (p.Thr978Arg) c.2870C>G (p.Thr957Arg) c.2798C>G (p.Thr933Arg) c.2738C>G (p.Thr913Arg) c.2270C>G (p.Thr757Arg) c.2213C>G (p.Thr738Arg) c.2876C>G (p.Thr959Arg) c.2867C>G (p.Thr956Arg) c.2795C>G (p.Thr932Arg) c.2672C>G (p.Thr891Arg) c.2300C>G (p.Thr767Arg) c.2090C>G (p.Thr697Arg) c.2087C>G (p.Thr696Arg) c.2332-652C>G (n.2332-652C>G) | |
2 | g.24823282G= | CA1239072286 | ADCY3 | c.2813C= (p.Thr938=) c.2810C= (p.Thr937=) n.82C= c.1751C= (p.Thr584=) c.2879C= (p.Thr960=) c.2936C= (p.Thr979=) c.2933C= (p.Thr978=) c.2870C= (p.Thr957=) c.2798C= (p.Thr933=) c.2738C= (p.Thr913=) c.2270C= (p.Thr757=) c.2213C= (p.Thr738=) c.2876C= (p.Thr959=) c.2867C= (p.Thr956=) c.2795C= (p.Thr932=) c.2672C= (p.Thr891=) c.2300C= (p.Thr767=) c.2090C= (p.Thr697=) c.2087C= (p.Thr696=) c.2332-652C= (n.2332-652C=) | |
2 | g.24823282G>T | CA346062795 | ADCY3 | c.2813C>A (p.Thr938Lys) c.2810C>A (p.Thr937Lys) n.82C>A c.1751C>A (p.Thr584Lys) c.2879C>A (p.Thr960Lys) c.2936C>A (p.Thr979Lys) c.2933C>A (p.Thr978Lys) c.2870C>A (p.Thr957Lys) c.2798C>A (p.Thr933Lys) c.2738C>A (p.Thr913Lys) c.2270C>A (p.Thr757Lys) c.2213C>A (p.Thr738Lys) c.2876C>A (p.Thr959Lys) c.2867C>A (p.Thr956Lys) c.2795C>A (p.Thr932Lys) c.2672C>A (p.Thr891Lys) c.2300C>A (p.Thr767Lys) c.2090C>A (p.Thr697Lys) c.2087C>A (p.Thr696Lys) c.2332-652C>A (n.2332-652C>A) | |
2 | g.24823283T>A | CA346062797 | ADCY3 | c.2812A>T (p.Thr938Ser) c.2809A>T (p.Thr937Ser) n.81A>T c.1750A>T (p.Thr584Ser) c.2878A>T (p.Thr960Ser) c.2935A>T (p.Thr979Ser) c.2932A>T (p.Thr978Ser) c.2869A>T (p.Thr957Ser) c.2797A>T (p.Thr933Ser) c.2737A>T (p.Thr913Ser) c.2269A>T (p.Thr757Ser) c.2212A>T (p.Thr738Ser) c.2875A>T (p.Thr959Ser) c.2866A>T (p.Thr956Ser) c.2794A>T (p.Thr932Ser) c.2671A>T (p.Thr891Ser) c.2299A>T (p.Thr767Ser) c.2089A>T (p.Thr697Ser) c.2086A>T (p.Thr696Ser) c.2332-653A>T (n.2332-653A>T) | |
2 | g.24823283T>C | CA346062798 | ADCY3 | c.2812A>G (p.Thr938Ala) c.2809A>G (p.Thr937Ala) n.81A>G c.1750A>G (p.Thr584Ala) c.2878A>G (p.Thr960Ala) c.2935A>G (p.Thr979Ala) c.2932A>G (p.Thr978Ala) c.2869A>G (p.Thr957Ala) c.2797A>G (p.Thr933Ala) c.2737A>G (p.Thr913Ala) c.2269A>G (p.Thr757Ala) c.2212A>G (p.Thr738Ala) c.2875A>G (p.Thr959Ala) c.2866A>G (p.Thr956Ala) c.2794A>G (p.Thr932Ala) c.2671A>G (p.Thr891Ala) c.2299A>G (p.Thr767Ala) c.2089A>G (p.Thr697Ala) c.2086A>G (p.Thr696Ala) c.2332-653A>G (n.2332-653A>G) | |
2 | g.24823283T>G | CA346062801 | ADCY3 | c.2812A>C (p.Thr938Pro) c.2809A>C (p.Thr937Pro) n.81A>C c.1750A>C (p.Thr584Pro) c.2878A>C (p.Thr960Pro) c.2935A>C (p.Thr979Pro) c.2932A>C (p.Thr978Pro) c.2869A>C (p.Thr957Pro) c.2797A>C (p.Thr933Pro) c.2737A>C (p.Thr913Pro) c.2269A>C (p.Thr757Pro) c.2212A>C (p.Thr738Pro) c.2875A>C (p.Thr959Pro) c.2866A>C (p.Thr956Pro) c.2794A>C (p.Thr932Pro) c.2671A>C (p.Thr891Pro) c.2299A>C (p.Thr767Pro) c.2089A>C (p.Thr697Pro) c.2086A>C (p.Thr696Pro) c.2332-653A>C (n.2332-653A>C) | |
2 | g.24823284G>A | CA425171993 | ADCY3 | c.2811C>T (p.Tyr937=) c.2808C>T (p.Tyr936=) n.80C>T c.1749C>T (p.Tyr583=) c.2877C>T (p.Tyr959=) c.2934C>T (p.Tyr978=) c.2931C>T (p.Tyr977=) c.2868C>T (p.Tyr956=) c.2796C>T (p.Tyr932=) c.2736C>T (p.Tyr912=) c.2268C>T (p.Tyr756=) c.2211C>T (p.Tyr737=) c.2874C>T (p.Tyr958=) c.2865C>T (p.Tyr955=) c.2793C>T (p.Tyr931=) c.2670C>T (p.Tyr890=) c.2298C>T (p.Tyr766=) c.2088C>T (p.Tyr696=) c.2085C>T (p.Tyr695=) c.2332-654C>T (n.2332-654C>T) | |
2 | g.24823284G>C | CA346062803 | ADCY3 | c.2811C>G (p.Tyr937Ter) c.2808C>G (p.Tyr936Ter) n.80C>G c.1749C>G (p.Tyr583Ter) c.2877C>G (p.Tyr959Ter) c.2934C>G (p.Tyr978Ter) c.2931C>G (p.Tyr977Ter) c.2868C>G (p.Tyr956Ter) c.2796C>G (p.Tyr932Ter) c.2736C>G (p.Tyr912Ter) c.2268C>G (p.Tyr756Ter) c.2211C>G (p.Tyr737Ter) c.2874C>G (p.Tyr958Ter) c.2865C>G (p.Tyr955Ter) c.2793C>G (p.Tyr931Ter) c.2670C>G (p.Tyr890Ter) c.2298C>G (p.Tyr766Ter) c.2088C>G (p.Tyr696Ter) c.2085C>G (p.Tyr695Ter) c.2332-654C>G (n.2332-654C>G) | |
2 | g.24823284G>T | CA346062805 | ADCY3 | c.2811C>A (p.Tyr937Ter) c.2808C>A (p.Tyr936Ter) n.80C>A c.1749C>A (p.Tyr583Ter) c.2877C>A (p.Tyr959Ter) c.2934C>A (p.Tyr978Ter) c.2931C>A (p.Tyr977Ter) c.2868C>A (p.Tyr956Ter) c.2796C>A (p.Tyr932Ter) c.2736C>A (p.Tyr912Ter) c.2268C>A (p.Tyr756Ter) c.2211C>A (p.Tyr737Ter) c.2874C>A (p.Tyr958Ter) c.2865C>A (p.Tyr955Ter) c.2793C>A (p.Tyr931Ter) c.2670C>A (p.Tyr890Ter) c.2298C>A (p.Tyr766Ter) c.2088C>A (p.Tyr696Ter) c.2085C>A (p.Tyr695Ter) c.2332-654C>A (n.2332-654C>A) | |
2 | g.24823285T>A | CA346062817 | ADCY3 | c.2810A>T (p.Tyr937Phe) c.2807A>T (p.Tyr936Phe) n.79A>T c.1748A>T (p.Tyr583Phe) c.2876A>T (p.Tyr959Phe) c.2933A>T (p.Tyr978Phe) c.2930A>T (p.Tyr977Phe) c.2867A>T (p.Tyr956Phe) c.2795A>T (p.Tyr932Phe) c.2735A>T (p.Tyr912Phe) c.2267A>T (p.Tyr756Phe) c.2210A>T (p.Tyr737Phe) c.2873A>T (p.Tyr958Phe) c.2864A>T (p.Tyr955Phe) c.2792A>T (p.Tyr931Phe) c.2669A>T (p.Tyr890Phe) c.2297A>T (p.Tyr766Phe) c.2087A>T (p.Tyr696Phe) c.2084A>T (p.Tyr695Phe) c.2332-655A>T (n.2332-655A>T) | |
2 | g.24823285T>C | CA346062808 | ADCY3 | c.2810A>G (p.Tyr937Cys) c.2807A>G (p.Tyr936Cys) n.79A>G c.1748A>G (p.Tyr583Cys) c.2876A>G (p.Tyr959Cys) c.2933A>G (p.Tyr978Cys) c.2930A>G (p.Tyr977Cys) c.2867A>G (p.Tyr956Cys) c.2795A>G (p.Tyr932Cys) c.2735A>G (p.Tyr912Cys) c.2267A>G (p.Tyr756Cys) c.2210A>G (p.Tyr737Cys) c.2873A>G (p.Tyr958Cys) c.2864A>G (p.Tyr955Cys) c.2792A>G (p.Tyr931Cys) c.2669A>G (p.Tyr890Cys) c.2297A>G (p.Tyr766Cys) c.2087A>G (p.Tyr696Cys) c.2084A>G (p.Tyr695Cys) c.2332-655A>G (n.2332-655A>G) | gnomAD v4 |
2 | g.24823285T>G | CA346062811 | ADCY3 | c.2810A>C (p.Tyr937Ser) c.2807A>C (p.Tyr936Ser) n.79A>C c.1748A>C (p.Tyr583Ser) c.2876A>C (p.Tyr959Ser) c.2933A>C (p.Tyr978Ser) c.2930A>C (p.Tyr977Ser) c.2867A>C (p.Tyr956Ser) c.2795A>C (p.Tyr932Ser) c.2735A>C (p.Tyr912Ser) c.2267A>C (p.Tyr756Ser) c.2210A>C (p.Tyr737Ser) c.2873A>C (p.Tyr958Ser) c.2864A>C (p.Tyr955Ser) c.2792A>C (p.Tyr931Ser) c.2669A>C (p.Tyr890Ser) c.2297A>C (p.Tyr766Ser) c.2087A>C (p.Tyr696Ser) c.2084A>C (p.Tyr695Ser) c.2332-655A>C (n.2332-655A>C) | |
2 | g.24823286A>C | CA346062819 | ADCY3 | c.2809T>G (p.Tyr937Asp) c.2806T>G (p.Tyr936Asp) n.78T>G c.1747T>G (p.Tyr583Asp) c.2875T>G (p.Tyr959Asp) c.2932T>G (p.Tyr978Asp) c.2929T>G (p.Tyr977Asp) c.2866T>G (p.Tyr956Asp) c.2794T>G (p.Tyr932Asp) c.2734T>G (p.Tyr912Asp) c.2266T>G (p.Tyr756Asp) c.2209T>G (p.Tyr737Asp) c.2872T>G (p.Tyr958Asp) c.2863T>G (p.Tyr955Asp) c.2791T>G (p.Tyr931Asp) c.2668T>G (p.Tyr890Asp) c.2296T>G (p.Tyr766Asp) c.2086T>G (p.Tyr696Asp) c.2083T>G (p.Tyr695Asp) c.2332-656T>G (n.2332-656T>G) | |
2 | g.24823286A>G | CA346062822 | ADCY3 | c.2809T>C (p.Tyr937His) c.2806T>C (p.Tyr936His) n.78T>C c.1747T>C (p.Tyr583His) c.2875T>C (p.Tyr959His) c.2932T>C (p.Tyr978His) c.2929T>C (p.Tyr977His) c.2866T>C (p.Tyr956His) c.2794T>C (p.Tyr932His) c.2734T>C (p.Tyr912His) c.2266T>C (p.Tyr756His) c.2209T>C (p.Tyr737His) c.2872T>C (p.Tyr958His) c.2863T>C (p.Tyr955His) c.2791T>C (p.Tyr931His) c.2668T>C (p.Tyr890His) c.2296T>C (p.Tyr766His) c.2086T>C (p.Tyr696His) c.2083T>C (p.Tyr695His) c.2332-656T>C (n.2332-656T>C) | |
2 | g.24823286A>T | CA346062824 | ADCY3 | c.2809T>A (p.Tyr937Asn) c.2806T>A (p.Tyr936Asn) n.78T>A c.1747T>A (p.Tyr583Asn) c.2875T>A (p.Tyr959Asn) c.2932T>A (p.Tyr978Asn) c.2929T>A (p.Tyr977Asn) c.2866T>A (p.Tyr956Asn) c.2794T>A (p.Tyr932Asn) c.2734T>A (p.Tyr912Asn) c.2266T>A (p.Tyr756Asn) c.2209T>A (p.Tyr737Asn) c.2872T>A (p.Tyr958Asn) c.2863T>A (p.Tyr955Asn) c.2791T>A (p.Tyr931Asn) c.2668T>A (p.Tyr890Asn) c.2296T>A (p.Tyr766Asn) c.2086T>A (p.Tyr696Asn) c.2083T>A (p.Tyr695Asn) c.2332-656T>A (n.2332-656T>A) | |
2 | g.24823287G>A | CA425171994 | ADCY3 | c.2808C>T (p.Phe936=) c.2805C>T (p.Phe935=) n.77C>T c.1746C>T (p.Phe582=) c.2874C>T (p.Phe958=) c.2931C>T (p.Phe977=) c.2928C>T (p.Phe976=) c.2865C>T (p.Phe955=) c.2793C>T (p.Phe931=) c.2733C>T (p.Phe911=) c.2265C>T (p.Phe755=) c.2208C>T (p.Phe736=) c.2871C>T (p.Phe957=) c.2862C>T (p.Phe954=) c.2790C>T (p.Phe930=) c.2667C>T (p.Phe889=) c.2295C>T (p.Phe765=) c.2085C>T (p.Phe695=) c.2082C>T (p.Phe694=) c.2332-657C>T (n.2332-657C>T) | |
2 | g.24823287G>C | CA346062825 | ADCY3 | c.2808C>G (p.Phe936Leu) c.2805C>G (p.Phe935Leu) n.77C>G c.1746C>G (p.Phe582Leu) c.2874C>G (p.Phe958Leu) c.2931C>G (p.Phe977Leu) c.2928C>G (p.Phe976Leu) c.2865C>G (p.Phe955Leu) c.2793C>G (p.Phe931Leu) c.2733C>G (p.Phe911Leu) c.2265C>G (p.Phe755Leu) c.2208C>G (p.Phe736Leu) c.2871C>G (p.Phe957Leu) c.2862C>G (p.Phe954Leu) c.2790C>G (p.Phe930Leu) c.2667C>G (p.Phe889Leu) c.2295C>G (p.Phe765Leu) c.2085C>G (p.Phe695Leu) c.2082C>G (p.Phe694Leu) c.2332-657C>G (n.2332-657C>G) | |
2 | g.24823287G>T | CA346062826 | ADCY3 | c.2808C>A (p.Phe936Leu) c.2805C>A (p.Phe935Leu) n.77C>A c.1746C>A (p.Phe582Leu) c.2874C>A (p.Phe958Leu) c.2931C>A (p.Phe977Leu) c.2928C>A (p.Phe976Leu) c.2865C>A (p.Phe955Leu) c.2793C>A (p.Phe931Leu) c.2733C>A (p.Phe911Leu) c.2265C>A (p.Phe755Leu) c.2208C>A (p.Phe736Leu) c.2871C>A (p.Phe957Leu) c.2862C>A (p.Phe954Leu) c.2790C>A (p.Phe930Leu) c.2667C>A (p.Phe889Leu) c.2295C>A (p.Phe765Leu) c.2085C>A (p.Phe695Leu) c.2082C>A (p.Phe694Leu) c.2332-657C>A (n.2332-657C>A) | |
2 | g.24823288A>C | CA346062827 | ADCY3 | c.2807T>G (p.Phe936Cys) c.2804T>G (p.Phe935Cys) n.76T>G c.1745T>G (p.Phe582Cys) c.2873T>G (p.Phe958Cys) c.2930T>G (p.Phe977Cys) c.2927T>G (p.Phe976Cys) c.2864T>G (p.Phe955Cys) c.2792T>G (p.Phe931Cys) c.2732T>G (p.Phe911Cys) c.2264T>G (p.Phe755Cys) c.2207T>G (p.Phe736Cys) c.2870T>G (p.Phe957Cys) c.2861T>G (p.Phe954Cys) c.2789T>G (p.Phe930Cys) c.2666T>G (p.Phe889Cys) c.2294T>G (p.Phe765Cys) c.2084T>G (p.Phe695Cys) c.2081T>G (p.Phe694Cys) c.2332-658T>G (n.2332-658T>G) | |
2 | g.24823288A>G | CA346062828 | ADCY3 | c.2807T>C (p.Phe936Ser) c.2804T>C (p.Phe935Ser) n.76T>C c.1745T>C (p.Phe582Ser) c.2873T>C (p.Phe958Ser) c.2930T>C (p.Phe977Ser) c.2927T>C (p.Phe976Ser) c.2864T>C (p.Phe955Ser) c.2792T>C (p.Phe931Ser) c.2732T>C (p.Phe911Ser) c.2264T>C (p.Phe755Ser) c.2207T>C (p.Phe736Ser) c.2870T>C (p.Phe957Ser) c.2861T>C (p.Phe954Ser) c.2789T>C (p.Phe930Ser) c.2666T>C (p.Phe889Ser) c.2294T>C (p.Phe765Ser) c.2084T>C (p.Phe695Ser) c.2081T>C (p.Phe694Ser) c.2332-658T>C (n.2332-658T>C) | |
2 | g.24823288A>T | CA346062829 | ADCY3 | c.2807T>A (p.Phe936Tyr) c.2804T>A (p.Phe935Tyr) n.76T>A c.1745T>A (p.Phe582Tyr) c.2873T>A (p.Phe958Tyr) c.2930T>A (p.Phe977Tyr) c.2927T>A (p.Phe976Tyr) c.2864T>A (p.Phe955Tyr) c.2792T>A (p.Phe931Tyr) c.2732T>A (p.Phe911Tyr) c.2264T>A (p.Phe755Tyr) c.2207T>A (p.Phe736Tyr) c.2870T>A (p.Phe957Tyr) c.2861T>A (p.Phe954Tyr) c.2789T>A (p.Phe930Tyr) c.2666T>A (p.Phe889Tyr) c.2294T>A (p.Phe765Tyr) c.2084T>A (p.Phe695Tyr) c.2081T>A (p.Phe694Tyr) c.2332-658T>A (n.2332-658T>A) | |
2 | g.24823289A>C | CA346062830 | ADCY3 | c.2806T>G (p.Phe936Val) c.2803T>G (p.Phe935Val) n.75T>G c.1744T>G (p.Phe582Val) c.2872T>G (p.Phe958Val) c.2929T>G (p.Phe977Val) c.2926T>G (p.Phe976Val) c.2863T>G (p.Phe955Val) c.2791T>G (p.Phe931Val) c.2731T>G (p.Phe911Val) c.2263T>G (p.Phe755Val) c.2206T>G (p.Phe736Val) c.2869T>G (p.Phe957Val) c.2860T>G (p.Phe954Val) c.2788T>G (p.Phe930Val) c.2665T>G (p.Phe889Val) c.2293T>G (p.Phe765Val) c.2083T>G (p.Phe695Val) c.2080T>G (p.Phe694Val) c.2332-659T>G (n.2332-659T>G) | |
2 | g.24823289A>G | CA346062831 | ADCY3 | c.2806T>C (p.Phe936Leu) c.2803T>C (p.Phe935Leu) n.75T>C c.1744T>C (p.Phe582Leu) c.2872T>C (p.Phe958Leu) c.2929T>C (p.Phe977Leu) c.2926T>C (p.Phe976Leu) c.2863T>C (p.Phe955Leu) c.2791T>C (p.Phe931Leu) c.2731T>C (p.Phe911Leu) c.2263T>C (p.Phe755Leu) c.2206T>C (p.Phe736Leu) c.2869T>C (p.Phe957Leu) c.2860T>C (p.Phe954Leu) c.2788T>C (p.Phe930Leu) c.2665T>C (p.Phe889Leu) c.2293T>C (p.Phe765Leu) c.2083T>C (p.Phe695Leu) c.2080T>C (p.Phe694Leu) c.2332-659T>C (n.2332-659T>C) | |
2 | g.24823289A>T | CA346062833 | ADCY3 | c.2806T>A (p.Phe936Ile) c.2803T>A (p.Phe935Ile) n.75T>A c.1744T>A (p.Phe582Ile) c.2872T>A (p.Phe958Ile) c.2929T>A (p.Phe977Ile) c.2926T>A (p.Phe976Ile) c.2863T>A (p.Phe955Ile) c.2791T>A (p.Phe931Ile) c.2731T>A (p.Phe911Ile) c.2263T>A (p.Phe755Ile) c.2206T>A (p.Phe736Ile) c.2869T>A (p.Phe957Ile) c.2860T>A (p.Phe954Ile) c.2788T>A (p.Phe930Ile) c.2665T>A (p.Phe889Ile) c.2293T>A (p.Phe765Ile) c.2083T>A (p.Phe695Ile) c.2080T>A (p.Phe694Ile) c.2332-659T>A (n.2332-659T>A) | |
2 | g.24823290G>A | CA1553610 | ADCY3 | c.2805C>T (p.Asp935=) c.2802C>T (p.Asp934=) n.74C>T c.1743C>T (p.Asp581=) c.2871C>T (p.Asp957=) c.2928C>T (p.Asp976=) c.2925C>T (p.Asp975=) c.2862C>T (p.Asp954=) c.2790C>T (p.Asp930=) c.2730C>T (p.Asp910=) c.2262C>T (p.Asp754=) c.2205C>T (p.Asp735=) c.2868C>T (p.Asp956=) c.2859C>T (p.Asp953=) c.2787C>T (p.Asp929=) c.2664C>T (p.Asp888=) c.2292C>T (p.Asp764=) c.2082C>T (p.Asp694=) c.2079C>T (p.Asp693=) c.2332-660C>T (n.2332-660C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.24823290G>C | CA346062837 | ADCY3 | c.2805C>G (p.Asp935Glu) c.2802C>G (p.Asp934Glu) n.74C>G c.1743C>G (p.Asp581Glu) c.2871C>G (p.Asp957Glu) c.2928C>G (p.Asp976Glu) c.2925C>G (p.Asp975Glu) c.2862C>G (p.Asp954Glu) c.2790C>G (p.Asp930Glu) c.2730C>G (p.Asp910Glu) c.2262C>G (p.Asp754Glu) c.2205C>G (p.Asp735Glu) c.2868C>G (p.Asp956Glu) c.2859C>G (p.Asp953Glu) c.2787C>G (p.Asp929Glu) c.2664C>G (p.Asp888Glu) c.2292C>G (p.Asp764Glu) c.2082C>G (p.Asp694Glu) c.2079C>G (p.Asp693Glu) c.2332-660C>G (n.2332-660C>G) | gnomAD v4 |
2 | g.24823290G= | CA1239072287 | ADCY3 | c.2805C= (p.Asp935=) c.2802C= (p.Asp934=) n.74C= c.1743C= (p.Asp581=) c.2871C= (p.Asp957=) c.2928C= (p.Asp976=) c.2925C= (p.Asp975=) c.2862C= (p.Asp954=) c.2790C= (p.Asp930=) c.2730C= (p.Asp910=) c.2262C= (p.Asp754=) c.2205C= (p.Asp735=) c.2868C= (p.Asp956=) c.2859C= (p.Asp953=) c.2787C= (p.Asp929=) c.2664C= (p.Asp888=) c.2292C= (p.Asp764=) c.2082C= (p.Asp694=) c.2079C= (p.Asp693=) c.2332-660C= (n.2332-660C=) | |
2 | g.24823290G>T | CA346062835 | ADCY3 | c.2805C>A (p.Asp935Glu) c.2802C>A (p.Asp934Glu) n.74C>A c.1743C>A (p.Asp581Glu) c.2871C>A (p.Asp957Glu) c.2928C>A (p.Asp976Glu) c.2925C>A (p.Asp975Glu) c.2862C>A (p.Asp954Glu) c.2790C>A (p.Asp930Glu) c.2730C>A (p.Asp910Glu) c.2262C>A (p.Asp754Glu) c.2205C>A (p.Asp735Glu) c.2868C>A (p.Asp956Glu) c.2859C>A (p.Asp953Glu) c.2787C>A (p.Asp929Glu) c.2664C>A (p.Asp888Glu) c.2292C>A (p.Asp764Glu) c.2082C>A (p.Asp694Glu) c.2079C>A (p.Asp693Glu) c.2332-660C>A (n.2332-660C>A) | |
2 | g.24823291T>A | CA346062840 | ADCY3 | c.2804A>T (p.Asp935Val) c.2801A>T (p.Asp934Val) n.73A>T c.1742A>T (p.Asp581Val) c.2870A>T (p.Asp957Val) c.2927A>T (p.Asp976Val) c.2924A>T (p.Asp975Val) c.2861A>T (p.Asp954Val) c.2789A>T (p.Asp930Val) c.2729A>T (p.Asp910Val) c.2261A>T (p.Asp754Val) c.2204A>T (p.Asp735Val) c.2867A>T (p.Asp956Val) c.2858A>T (p.Asp953Val) c.2786A>T (p.Asp929Val) c.2663A>T (p.Asp888Val) c.2291A>T (p.Asp764Val) c.2081A>T (p.Asp694Val) c.2078A>T (p.Asp693Val) c.2332-661A>T (n.2332-661A>T) | |
2 | g.24823291T>C | CA346062841 | ADCY3 | c.2804A>G (p.Asp935Gly) c.2801A>G (p.Asp934Gly) n.73A>G c.1742A>G (p.Asp581Gly) c.2870A>G (p.Asp957Gly) c.2927A>G (p.Asp976Gly) c.2924A>G (p.Asp975Gly) c.2861A>G (p.Asp954Gly) c.2789A>G (p.Asp930Gly) c.2729A>G (p.Asp910Gly) c.2261A>G (p.Asp754Gly) c.2204A>G (p.Asp735Gly) c.2867A>G (p.Asp956Gly) c.2858A>G (p.Asp953Gly) c.2786A>G (p.Asp929Gly) c.2663A>G (p.Asp888Gly) c.2291A>G (p.Asp764Gly) c.2081A>G (p.Asp694Gly) c.2078A>G (p.Asp693Gly) c.2332-661A>G (n.2332-661A>G) | |
2 | g.24823291T>G | CA346062843 | ADCY3 | c.2804A>C (p.Asp935Ala) c.2801A>C (p.Asp934Ala) n.73A>C c.1742A>C (p.Asp581Ala) c.2870A>C (p.Asp957Ala) c.2927A>C (p.Asp976Ala) c.2924A>C (p.Asp975Ala) c.2861A>C (p.Asp954Ala) c.2789A>C (p.Asp930Ala) c.2729A>C (p.Asp910Ala) c.2261A>C (p.Asp754Ala) c.2204A>C (p.Asp735Ala) c.2867A>C (p.Asp956Ala) c.2858A>C (p.Asp953Ala) c.2786A>C (p.Asp929Ala) c.2663A>C (p.Asp888Ala) c.2291A>C (p.Asp764Ala) c.2081A>C (p.Asp694Ala) c.2078A>C (p.Asp693Ala) c.2332-661A>C (n.2332-661A>C) | |
2 | g.24823292C>A | CA346062844 | ADCY3 | c.2803G>T (p.Asp935Tyr) c.2800G>T (p.Asp934Tyr) n.72G>T c.1741G>T (p.Asp581Tyr) c.2869G>T (p.Asp957Tyr) c.2926G>T (p.Asp976Tyr) c.2923G>T (p.Asp975Tyr) c.2860G>T (p.Asp954Tyr) c.2788G>T (p.Asp930Tyr) c.2728G>T (p.Asp910Tyr) c.2260G>T (p.Asp754Tyr) c.2203G>T (p.Asp735Tyr) c.2866G>T (p.Asp956Tyr) c.2857G>T (p.Asp953Tyr) c.2785G>T (p.Asp929Tyr) c.2662G>T (p.Asp888Tyr) c.2290G>T (p.Asp764Tyr) c.2080G>T (p.Asp694Tyr) c.2077G>T (p.Asp693Tyr) c.2332-662G>T (n.2332-662G>T) | |
2 | g.24823292C>G | CA346062846 | ADCY3 | c.2803G>C (p.Asp935His) c.2800G>C (p.Asp934His) n.72G>C c.1741G>C (p.Asp581His) c.2869G>C (p.Asp957His) c.2926G>C (p.Asp976His) c.2923G>C (p.Asp975His) c.2860G>C (p.Asp954His) c.2788G>C (p.Asp930His) c.2728G>C (p.Asp910His) c.2260G>C (p.Asp754His) c.2203G>C (p.Asp735His) c.2866G>C (p.Asp956His) c.2857G>C (p.Asp953His) c.2785G>C (p.Asp929His) c.2662G>C (p.Asp888His) c.2290G>C (p.Asp764His) c.2080G>C (p.Asp694His) c.2077G>C (p.Asp693His) c.2332-662G>C (n.2332-662G>C) | |
2 | g.24823292C>T | CA346062849 | ADCY3 | c.2803G>A (p.Asp935Asn) c.2800G>A (p.Asp934Asn) n.72G>A c.1741G>A (p.Asp581Asn) c.2869G>A (p.Asp957Asn) c.2926G>A (p.Asp976Asn) c.2923G>A (p.Asp975Asn) c.2860G>A (p.Asp954Asn) c.2788G>A (p.Asp930Asn) c.2728G>A (p.Asp910Asn) c.2260G>A (p.Asp754Asn) c.2203G>A (p.Asp735Asn) c.2866G>A (p.Asp956Asn) c.2857G>A (p.Asp953Asn) c.2785G>A (p.Asp929Asn) c.2662G>A (p.Asp888Asn) c.2290G>A (p.Asp764Asn) c.2080G>A (p.Asp694Asn) c.2077G>A (p.Asp693Asn) c.2332-662G>A (n.2332-662G>A) | COSMIC |
2 | g.24823293A= | CA1239072288 | ADCY3 | c.2802T= (p.Ala934=) c.2799T= (p.Ala933=) n.71T= c.1740T= (p.Ala580=) c.2868T= (p.Ala956=) c.2925T= (p.Ala975=) c.2922T= (p.Ala974=) c.2859T= (p.Ala953=) c.2787T= (p.Ala929=) c.2727T= (p.Ala909=) c.2259T= (p.Ala753=) c.2202T= (p.Ala734=) c.2865T= (p.Ala955=) c.2856T= (p.Ala952=) c.2784T= (p.Ala928=) c.2661T= (p.Ala887=) c.2289T= (p.Ala763=) c.2079T= (p.Ala693=) c.2076T= (p.Ala692=) c.2332-663T= (n.2332-663T=) | |
2 | g.24823293A>C | CA425171995 | ADCY3 | c.2802T>G (p.Ala934=) c.2799T>G (p.Ala933=) n.71T>G c.1740T>G (p.Ala580=) c.2868T>G (p.Ala956=) c.2925T>G (p.Ala975=) c.2922T>G (p.Ala974=) c.2859T>G (p.Ala953=) c.2787T>G (p.Ala929=) c.2727T>G (p.Ala909=) c.2259T>G (p.Ala753=) c.2202T>G (p.Ala734=) c.2865T>G (p.Ala955=) c.2856T>G (p.Ala952=) c.2784T>G (p.Ala928=) c.2661T>G (p.Ala887=) c.2289T>G (p.Ala763=) c.2079T>G (p.Ala693=) c.2076T>G (p.Ala692=) c.2332-663T>G (n.2332-663T>G) | |
2 | g.24823293A>G | CA1553611 | ADCY3 | c.2802T>C (p.Ala934=) c.2799T>C (p.Ala933=) n.71T>C c.1740T>C (p.Ala580=) c.2868T>C (p.Ala956=) c.2925T>C (p.Ala975=) c.2922T>C (p.Ala974=) c.2859T>C (p.Ala953=) c.2787T>C (p.Ala929=) c.2727T>C (p.Ala909=) c.2259T>C (p.Ala753=) c.2202T>C (p.Ala734=) c.2865T>C (p.Ala955=) c.2856T>C (p.Ala952=) c.2784T>C (p.Ala928=) c.2661T>C (p.Ala887=) c.2289T>C (p.Ala763=) c.2079T>C (p.Ala693=) c.2076T>C (p.Ala692=) c.2332-663T>C (n.2332-663T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.24823293A>T | CA425171996 | ADCY3 | c.2802T>A (p.Ala934=) c.2799T>A (p.Ala933=) n.71T>A c.1740T>A (p.Ala580=) c.2868T>A (p.Ala956=) c.2925T>A (p.Ala975=) c.2922T>A (p.Ala974=) c.2859T>A (p.Ala953=) c.2787T>A (p.Ala929=) c.2727T>A (p.Ala909=) c.2259T>A (p.Ala753=) c.2202T>A (p.Ala734=) c.2865T>A (p.Ala955=) c.2856T>A (p.Ala952=) c.2784T>A (p.Ala928=) c.2661T>A (p.Ala887=) c.2289T>A (p.Ala763=) c.2079T>A (p.Ala693=) c.2076T>A (p.Ala692=) c.2332-663T>A (n.2332-663T>A) | |
2 | g.24823294G>A | CA346062852 | ADCY3 | c.2801C>T (p.Ala934Val) c.2798C>T (p.Ala933Val) n.70C>T c.1739C>T (p.Ala580Val) c.2867C>T (p.Ala956Val) c.2924C>T (p.Ala975Val) c.2921C>T (p.Ala974Val) c.2858C>T (p.Ala953Val) c.2786C>T (p.Ala929Val) c.2726C>T (p.Ala909Val) c.2258C>T (p.Ala753Val) c.2201C>T (p.Ala734Val) c.2864C>T (p.Ala955Val) c.2855C>T (p.Ala952Val) c.2783C>T (p.Ala928Val) c.2660C>T (p.Ala887Val) c.2288C>T (p.Ala763Val) c.2078C>T (p.Ala693Val) c.2075C>T (p.Ala692Val) c.2332-664C>T (n.2332-664C>T) | dbSNP |
2 | g.24823294G>C | CA346062854 | ADCY3 | c.2801C>G (p.Ala934Gly) c.2798C>G (p.Ala933Gly) n.70C>G c.1739C>G (p.Ala580Gly) c.2867C>G (p.Ala956Gly) c.2924C>G (p.Ala975Gly) c.2921C>G (p.Ala974Gly) c.2858C>G (p.Ala953Gly) c.2786C>G (p.Ala929Gly) c.2726C>G (p.Ala909Gly) c.2258C>G (p.Ala753Gly) c.2201C>G (p.Ala734Gly) c.2864C>G (p.Ala955Gly) c.2855C>G (p.Ala952Gly) c.2783C>G (p.Ala928Gly) c.2660C>G (p.Ala887Gly) c.2288C>G (p.Ala763Gly) c.2078C>G (p.Ala693Gly) c.2075C>G (p.Ala692Gly) c.2332-664C>G (n.2332-664C>G) | |
2 | g.24823294G>T | CA346062855 | ADCY3 | c.2801C>A (p.Ala934Asp) c.2798C>A (p.Ala933Asp) n.70C>A c.1739C>A (p.Ala580Asp) c.2867C>A (p.Ala956Asp) c.2924C>A (p.Ala975Asp) c.2921C>A (p.Ala974Asp) c.2858C>A (p.Ala953Asp) c.2786C>A (p.Ala929Asp) c.2726C>A (p.Ala909Asp) c.2258C>A (p.Ala753Asp) c.2201C>A (p.Ala734Asp) c.2864C>A (p.Ala955Asp) c.2855C>A (p.Ala952Asp) c.2783C>A (p.Ala928Asp) c.2660C>A (p.Ala887Asp) c.2288C>A (p.Ala763Asp) c.2078C>A (p.Ala693Asp) c.2075C>A (p.Ala692Asp) c.2332-664C>A (n.2332-664C>A) | |
2 | g.24823295C>A | CA346062858 | ADCY3 | c.2800G>T (p.Ala934Ser) c.2797G>T (p.Ala933Ser) n.69G>T c.1738G>T (p.Ala580Ser) c.2866G>T (p.Ala956Ser) c.2923G>T (p.Ala975Ser) c.2920G>T (p.Ala974Ser) c.2857G>T (p.Ala953Ser) c.2785G>T (p.Ala929Ser) c.2725G>T (p.Ala909Ser) c.2257G>T (p.Ala753Ser) c.2200G>T (p.Ala734Ser) c.2863G>T (p.Ala955Ser) c.2854G>T (p.Ala952Ser) c.2782G>T (p.Ala928Ser) c.2659G>T (p.Ala887Ser) c.2287G>T (p.Ala763Ser) c.2077G>T (p.Ala693Ser) c.2074G>T (p.Ala692Ser) c.2332-665G>T (n.2332-665G>T) | |
2 | g.24823295C>G | CA346062861 | ADCY3 | c.2800G>C (p.Ala934Pro) c.2797G>C (p.Ala933Pro) n.69G>C c.1738G>C (p.Ala580Pro) c.2866G>C (p.Ala956Pro) c.2923G>C (p.Ala975Pro) c.2920G>C (p.Ala974Pro) c.2857G>C (p.Ala953Pro) c.2785G>C (p.Ala929Pro) c.2725G>C (p.Ala909Pro) c.2257G>C (p.Ala753Pro) c.2200G>C (p.Ala734Pro) c.2863G>C (p.Ala955Pro) c.2854G>C (p.Ala952Pro) c.2782G>C (p.Ala928Pro) c.2659G>C (p.Ala887Pro) c.2287G>C (p.Ala763Pro) c.2077G>C (p.Ala693Pro) c.2074G>C (p.Ala692Pro) c.2332-665G>C (n.2332-665G>C) | |
2 | g.24823295C>T | CA346062862 | ADCY3 | c.2800G>A (p.Ala934Thr) c.2797G>A (p.Ala933Thr) n.69G>A c.1738G>A (p.Ala580Thr) c.2866G>A (p.Ala956Thr) c.2923G>A (p.Ala975Thr) c.2920G>A (p.Ala974Thr) c.2857G>A (p.Ala953Thr) c.2785G>A (p.Ala929Thr) c.2725G>A (p.Ala909Thr) c.2257G>A (p.Ala753Thr) c.2200G>A (p.Ala734Thr) c.2863G>A (p.Ala955Thr) c.2854G>A (p.Ala952Thr) c.2782G>A (p.Ala928Thr) c.2659G>A (p.Ala887Thr) c.2287G>A (p.Ala763Thr) c.2077G>A (p.Ala693Thr) c.2074G>A (p.Ala692Thr) c.2332-665G>A (n.2332-665G>A) | |
2 | g.24823296A>C | CA346062867 | ADCY3 | c.2799T>G (p.Phe933Leu) c.2796T>G (p.Phe932Leu) n.68T>G c.1737T>G (p.Phe579Leu) c.2865T>G (p.Phe955Leu) c.2922T>G (p.Phe974Leu) c.2919T>G (p.Phe973Leu) c.2856T>G (p.Phe952Leu) c.2784T>G (p.Phe928Leu) c.2724T>G (p.Phe908Leu) c.2256T>G (p.Phe752Leu) c.2199T>G (p.Phe733Leu) c.2862T>G (p.Phe954Leu) c.2853T>G (p.Phe951Leu) c.2781T>G (p.Phe927Leu) c.2658T>G (p.Phe886Leu) c.2286T>G (p.Phe762Leu) c.2076T>G (p.Phe692Leu) c.2073T>G (p.Phe691Leu) c.2332-666T>G (n.2332-666T>G) | |
2 | g.24823296A>G | CA425171997 | ADCY3 | c.2799T>C (p.Phe933=) c.2796T>C (p.Phe932=) n.68T>C c.1737T>C (p.Phe579=) c.2865T>C (p.Phe955=) c.2922T>C (p.Phe974=) c.2919T>C (p.Phe973=) c.2856T>C (p.Phe952=) c.2784T>C (p.Phe928=) c.2724T>C (p.Phe908=) c.2256T>C (p.Phe752=) c.2199T>C (p.Phe733=) c.2862T>C (p.Phe954=) c.2853T>C (p.Phe951=) c.2781T>C (p.Phe927=) c.2658T>C (p.Phe886=) c.2286T>C (p.Phe762=) c.2076T>C (p.Phe692=) c.2073T>C (p.Phe691=) c.2332-666T>C (n.2332-666T>C) | |
2 | g.24823296A>T | CA346062866 | ADCY3 | c.2799T>A (p.Phe933Leu) c.2796T>A (p.Phe932Leu) n.68T>A c.1737T>A (p.Phe579Leu) c.2865T>A (p.Phe955Leu) c.2922T>A (p.Phe974Leu) c.2919T>A (p.Phe973Leu) c.2856T>A (p.Phe952Leu) c.2784T>A (p.Phe928Leu) c.2724T>A (p.Phe908Leu) c.2256T>A (p.Phe752Leu) c.2199T>A (p.Phe733Leu) c.2862T>A (p.Phe954Leu) c.2853T>A (p.Phe951Leu) c.2781T>A (p.Phe927Leu) c.2658T>A (p.Phe886Leu) c.2286T>A (p.Phe762Leu) c.2076T>A (p.Phe692Leu) c.2073T>A (p.Phe691Leu) c.2332-666T>A (n.2332-666T>A) | |
2 | g.24823297A= | CA1239072289 | ADCY3 | c.2798T= (p.Phe933=) c.2795T= (p.Phe932=) n.67T= c.1736T= (p.Phe579=) c.2864T= (p.Phe955=) c.2921T= (p.Phe974=) c.2918T= (p.Phe973=) c.2855T= (p.Phe952=) c.2783T= (p.Phe928=) c.2723T= (p.Phe908=) c.2255T= (p.Phe752=) c.2198T= (p.Phe733=) c.2861T= (p.Phe954=) c.2852T= (p.Phe951=) c.2780T= (p.Phe927=) c.2657T= (p.Phe886=) c.2285T= (p.Phe762=) c.2075T= (p.Phe692=) c.2072T= (p.Phe691=) c.2332-667T= (n.2332-667T=) | |
2 | g.24823297A>C | CA346062869 | ADCY3 | c.2798T>G (p.Phe933Cys) c.2795T>G (p.Phe932Cys) n.67T>G c.1736T>G (p.Phe579Cys) c.2864T>G (p.Phe955Cys) c.2921T>G (p.Phe974Cys) c.2918T>G (p.Phe973Cys) c.2855T>G (p.Phe952Cys) c.2783T>G (p.Phe928Cys) c.2723T>G (p.Phe908Cys) c.2255T>G (p.Phe752Cys) c.2198T>G (p.Phe733Cys) c.2861T>G (p.Phe954Cys) c.2852T>G (p.Phe951Cys) c.2780T>G (p.Phe927Cys) c.2657T>G (p.Phe886Cys) c.2285T>G (p.Phe762Cys) c.2075T>G (p.Phe692Cys) c.2072T>G (p.Phe691Cys) c.2332-667T>G (n.2332-667T>G) | |
2 | g.24823297A>G | CA346062870 | ADCY3 | c.2798T>C (p.Phe933Ser) c.2795T>C (p.Phe932Ser) n.67T>C c.1736T>C (p.Phe579Ser) c.2864T>C (p.Phe955Ser) c.2921T>C (p.Phe974Ser) c.2918T>C (p.Phe973Ser) c.2855T>C (p.Phe952Ser) c.2783T>C (p.Phe928Ser) c.2723T>C (p.Phe908Ser) c.2255T>C (p.Phe752Ser) c.2198T>C (p.Phe733Ser) c.2861T>C (p.Phe954Ser) c.2852T>C (p.Phe951Ser) c.2780T>C (p.Phe927Ser) c.2657T>C (p.Phe886Ser) c.2285T>C (p.Phe762Ser) c.2075T>C (p.Phe692Ser) c.2072T>C (p.Phe691Ser) c.2332-667T>C (n.2332-667T>C) | dbSNP |
2 | g.24823297A>T | CA346062872 | ADCY3 | c.2798T>A (p.Phe933Tyr) c.2795T>A (p.Phe932Tyr) n.67T>A c.1736T>A (p.Phe579Tyr) c.2864T>A (p.Phe955Tyr) c.2921T>A (p.Phe974Tyr) c.2918T>A (p.Phe973Tyr) c.2855T>A (p.Phe952Tyr) c.2783T>A (p.Phe928Tyr) c.2723T>A (p.Phe908Tyr) c.2255T>A (p.Phe752Tyr) c.2198T>A (p.Phe733Tyr) c.2861T>A (p.Phe954Tyr) c.2852T>A (p.Phe951Tyr) c.2780T>A (p.Phe927Tyr) c.2657T>A (p.Phe886Tyr) c.2285T>A (p.Phe762Tyr) c.2075T>A (p.Phe692Tyr) c.2072T>A (p.Phe691Tyr) c.2332-667T>A (n.2332-667T>A) | |
2 | g.24823298A>C | CA346062875 | ADCY3 | c.2797T>G (p.Phe933Val) c.2794T>G (p.Phe932Val) n.66T>G c.1735T>G (p.Phe579Val) c.2863T>G (p.Phe955Val) c.2920T>G (p.Phe974Val) c.2917T>G (p.Phe973Val) c.2854T>G (p.Phe952Val) c.2782T>G (p.Phe928Val) c.2722T>G (p.Phe908Val) c.2254T>G (p.Phe752Val) c.2197T>G (p.Phe733Val) c.2860T>G (p.Phe954Val) c.2851T>G (p.Phe951Val) c.2779T>G (p.Phe927Val) c.2656T>G (p.Phe886Val) c.2284T>G (p.Phe762Val) c.2074T>G (p.Phe692Val) c.2071T>G (p.Phe691Val) c.2332-668T>G (n.2332-668T>G) | |
2 | g.24823298A>G | CA346062877 | ADCY3 | c.2797T>C (p.Phe933Leu) c.2794T>C (p.Phe932Leu) n.66T>C c.1735T>C (p.Phe579Leu) c.2863T>C (p.Phe955Leu) c.2920T>C (p.Phe974Leu) c.2917T>C (p.Phe973Leu) c.2854T>C (p.Phe952Leu) c.2782T>C (p.Phe928Leu) c.2722T>C (p.Phe908Leu) c.2254T>C (p.Phe752Leu) c.2197T>C (p.Phe733Leu) c.2860T>C (p.Phe954Leu) c.2851T>C (p.Phe951Leu) c.2779T>C (p.Phe927Leu) c.2656T>C (p.Phe886Leu) c.2284T>C (p.Phe762Leu) c.2074T>C (p.Phe692Leu) c.2071T>C (p.Phe691Leu) c.2332-668T>C (n.2332-668T>C) | |
2 | g.24823298A>T | CA346062879 | ADCY3 | c.2797T>A (p.Phe933Ile) c.2794T>A (p.Phe932Ile) n.66T>A c.1735T>A (p.Phe579Ile) c.2863T>A (p.Phe955Ile) c.2920T>A (p.Phe974Ile) c.2917T>A (p.Phe973Ile) c.2854T>A (p.Phe952Ile) c.2782T>A (p.Phe928Ile) c.2722T>A (p.Phe908Ile) c.2254T>A (p.Phe752Ile) c.2197T>A (p.Phe733Ile) c.2860T>A (p.Phe954Ile) c.2851T>A (p.Phe951Ile) c.2779T>A (p.Phe927Ile) c.2656T>A (p.Phe886Ile) c.2284T>A (p.Phe762Ile) c.2074T>A (p.Phe692Ile) c.2071T>A (p.Phe691Ile) c.2332-668T>A (n.2332-668T>A) | |
2 | g.24823299G>A | CA425171998 | ADCY3 | c.2796C>T (p.Asn932=) c.2793C>T (p.Asn931=) n.65C>T c.1734C>T (p.Asn578=) c.2862C>T (p.Asn954=) c.2919C>T (p.Asn973=) c.2916C>T (p.Asn972=) c.2853C>T (p.Asn951=) c.2781C>T (p.Asn927=) c.2721C>T (p.Asn907=) c.2253C>T (p.Asn751=) c.2196C>T (p.Asn732=) c.2859C>T (p.Asn953=) c.2850C>T (p.Asn950=) c.2778C>T (p.Asn926=) c.2655C>T (p.Asn885=) c.2283C>T (p.Asn761=) c.2073C>T (p.Asn691=) c.2070C>T (p.Asn690=) c.2332-669C>T (n.2332-669C>T) | gnomAD v4 |
2 | g.24823299G>C | CA346062882 | ADCY3 | c.2796C>G (p.Asn932Lys) c.2793C>G (p.Asn931Lys) n.65C>G c.1734C>G (p.Asn578Lys) c.2862C>G (p.Asn954Lys) c.2919C>G (p.Asn973Lys) c.2916C>G (p.Asn972Lys) c.2853C>G (p.Asn951Lys) c.2781C>G (p.Asn927Lys) c.2721C>G (p.Asn907Lys) c.2253C>G (p.Asn751Lys) c.2196C>G (p.Asn732Lys) c.2859C>G (p.Asn953Lys) c.2850C>G (p.Asn950Lys) c.2778C>G (p.Asn926Lys) c.2655C>G (p.Asn885Lys) c.2283C>G (p.Asn761Lys) c.2073C>G (p.Asn691Lys) c.2070C>G (p.Asn690Lys) c.2332-669C>G (n.2332-669C>G) | |
2 | g.24823299G>T | CA346062885 | ADCY3 | c.2796C>A (p.Asn932Lys) c.2793C>A (p.Asn931Lys) n.65C>A c.1734C>A (p.Asn578Lys) c.2862C>A (p.Asn954Lys) c.2919C>A (p.Asn973Lys) c.2916C>A (p.Asn972Lys) c.2853C>A (p.Asn951Lys) c.2781C>A (p.Asn927Lys) c.2721C>A (p.Asn907Lys) c.2253C>A (p.Asn751Lys) c.2196C>A (p.Asn732Lys) c.2859C>A (p.Asn953Lys) c.2850C>A (p.Asn950Lys) c.2778C>A (p.Asn926Lys) c.2655C>A (p.Asn885Lys) c.2283C>A (p.Asn761Lys) c.2073C>A (p.Asn691Lys) c.2070C>A (p.Asn690Lys) c.2332-669C>A (n.2332-669C>A) | |
2 | g.24823300T>A | CA346062886 | ADCY3 | c.2795A>T (p.Asn932Ile) c.2792A>T (p.Asn931Ile) n.64A>T c.1733A>T (p.Asn578Ile) c.2861A>T (p.Asn954Ile) c.2918A>T (p.Asn973Ile) c.2915A>T (p.Asn972Ile) c.2852A>T (p.Asn951Ile) c.2780A>T (p.Asn927Ile) c.2720A>T (p.Asn907Ile) c.2252A>T (p.Asn751Ile) c.2195A>T (p.Asn732Ile) c.2858A>T (p.Asn953Ile) c.2849A>T (p.Asn950Ile) c.2777A>T (p.Asn926Ile) c.2654A>T (p.Asn885Ile) c.2282A>T (p.Asn761Ile) c.2072A>T (p.Asn691Ile) c.2069A>T (p.Asn690Ile) c.2332-670A>T (n.2332-670A>T) | |
2 | g.24823300T>C | CA346062887 | ADCY3 | c.2795A>G (p.Asn932Ser) c.2792A>G (p.Asn931Ser) n.64A>G c.1733A>G (p.Asn578Ser) c.2861A>G (p.Asn954Ser) c.2918A>G (p.Asn973Ser) c.2915A>G (p.Asn972Ser) c.2852A>G (p.Asn951Ser) c.2780A>G (p.Asn927Ser) c.2720A>G (p.Asn907Ser) c.2252A>G (p.Asn751Ser) c.2195A>G (p.Asn732Ser) c.2858A>G (p.Asn953Ser) c.2849A>G (p.Asn950Ser) c.2777A>G (p.Asn926Ser) c.2654A>G (p.Asn885Ser) c.2282A>G (p.Asn761Ser) c.2072A>G (p.Asn691Ser) c.2069A>G (p.Asn690Ser) c.2332-670A>G (n.2332-670A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.24823300T>G | CA346062889 | ADCY3 | c.2795A>C (p.Asn932Thr) c.2792A>C (p.Asn931Thr) n.64A>C c.1733A>C (p.Asn578Thr) c.2861A>C (p.Asn954Thr) c.2918A>C (p.Asn973Thr) c.2915A>C (p.Asn972Thr) c.2852A>C (p.Asn951Thr) c.2780A>C (p.Asn927Thr) c.2720A>C (p.Asn907Thr) c.2252A>C (p.Asn751Thr) c.2195A>C (p.Asn732Thr) c.2858A>C (p.Asn953Thr) c.2849A>C (p.Asn950Thr) c.2777A>C (p.Asn926Thr) c.2654A>C (p.Asn885Thr) c.2282A>C (p.Asn761Thr) c.2072A>C (p.Asn691Thr) c.2069A>C (p.Asn690Thr) c.2332-670A>C (n.2332-670A>C) | |
2 | g.24823300T= | CA1239072290 | ADCY3 | c.2795A= (p.Asn932=) c.2792A= (p.Asn931=) n.64A= c.1733A= (p.Asn578=) c.2861A= (p.Asn954=) c.2918A= (p.Asn973=) c.2915A= (p.Asn972=) c.2852A= (p.Asn951=) c.2780A= (p.Asn927=) c.2720A= (p.Asn907=) c.2252A= (p.Asn751=) c.2195A= (p.Asn732=) c.2858A= (p.Asn953=) c.2849A= (p.Asn950=) c.2777A= (p.Asn926=) c.2654A= (p.Asn885=) c.2282A= (p.Asn761=) c.2072A= (p.Asn691=) c.2069A= (p.Asn690=) c.2332-670A= (n.2332-670A=) | |
2 | g.24823301T>A | CA346062892 | ADCY3 | c.2794A>T (p.Asn932Tyr) c.2791A>T (p.Asn931Tyr) n.63A>T c.1732A>T (p.Asn578Tyr) c.2860A>T (p.Asn954Tyr) c.2917A>T (p.Asn973Tyr) c.2914A>T (p.Asn972Tyr) c.2851A>T (p.Asn951Tyr) c.2779A>T (p.Asn927Tyr) c.2719A>T (p.Asn907Tyr) c.2251A>T (p.Asn751Tyr) c.2194A>T (p.Asn732Tyr) c.2857A>T (p.Asn953Tyr) c.2848A>T (p.Asn950Tyr) c.2776A>T (p.Asn926Tyr) c.2653A>T (p.Asn885Tyr) c.2281A>T (p.Asn761Tyr) c.2071A>T (p.Asn691Tyr) c.2068A>T (p.Asn690Tyr) c.2332-671A>T (n.2332-671A>T) | |
2 | g.24823301T>C | CA346062893 | ADCY3 | c.2794A>G (p.Asn932Asp) c.2791A>G (p.Asn931Asp) n.63A>G c.1732A>G (p.Asn578Asp) c.2860A>G (p.Asn954Asp) c.2917A>G (p.Asn973Asp) c.2914A>G (p.Asn972Asp) c.2851A>G (p.Asn951Asp) c.2779A>G (p.Asn927Asp) c.2719A>G (p.Asn907Asp) c.2251A>G (p.Asn751Asp) c.2194A>G (p.Asn732Asp) c.2857A>G (p.Asn953Asp) c.2848A>G (p.Asn950Asp) c.2776A>G (p.Asn926Asp) c.2653A>G (p.Asn885Asp) c.2281A>G (p.Asn761Asp) c.2071A>G (p.Asn691Asp) c.2068A>G (p.Asn690Asp) c.2332-671A>G (n.2332-671A>G) | |
2 | g.24823301T>G | CA346062899 | ADCY3 | c.2794A>C (p.Asn932His) c.2791A>C (p.Asn931His) n.63A>C c.1732A>C (p.Asn578His) c.2860A>C (p.Asn954His) c.2917A>C (p.Asn973His) c.2914A>C (p.Asn972His) c.2851A>C (p.Asn951His) c.2779A>C (p.Asn927His) c.2719A>C (p.Asn907His) c.2251A>C (p.Asn751His) c.2194A>C (p.Asn732His) c.2857A>C (p.Asn953His) c.2848A>C (p.Asn950His) c.2776A>C (p.Asn926His) c.2653A>C (p.Asn885His) c.2281A>C (p.Asn761His) c.2071A>C (p.Asn691His) c.2068A>C (p.Asn690His) c.2332-671A>C (n.2332-671A>C) | |
2 | g.24823302G>A | CA425171999 | ADCY3 | c.2793C>T (p.Pro931=) c.2790C>T (p.Pro930=) n.62C>T c.1731C>T (p.Pro577=) c.2859C>T (p.Pro953=) c.2916C>T (p.Pro972=) c.2913C>T (p.Pro971=) c.2850C>T (p.Pro950=) c.2778C>T (p.Pro926=) c.2718C>T (p.Pro906=) c.2250C>T (p.Pro750=) c.2193C>T (p.Pro731=) c.2856C>T (p.Pro952=) c.2847C>T (p.Pro949=) c.2775C>T (p.Pro925=) c.2652C>T (p.Pro884=) c.2280C>T (p.Pro760=) c.2070C>T (p.Pro690=) c.2067C>T (p.Pro689=) c.2332-672C>T (n.2332-672C>T) | |
2 | g.24823302G>C | CA425172001 | ADCY3 | c.2793C>G (p.Pro931=) c.2790C>G (p.Pro930=) n.62C>G c.1731C>G (p.Pro577=) c.2859C>G (p.Pro953=) c.2916C>G (p.Pro972=) c.2913C>G (p.Pro971=) c.2850C>G (p.Pro950=) c.2778C>G (p.Pro926=) c.2718C>G (p.Pro906=) c.2250C>G (p.Pro750=) c.2193C>G (p.Pro731=) c.2856C>G (p.Pro952=) c.2847C>G (p.Pro949=) c.2775C>G (p.Pro925=) c.2652C>G (p.Pro884=) c.2280C>G (p.Pro760=) c.2070C>G (p.Pro690=) c.2067C>G (p.Pro689=) c.2332-672C>G (n.2332-672C>G) | |
2 | g.24823302G>T | CA425172000 | ADCY3 | c.2793C>A (p.Pro931=) c.2790C>A (p.Pro930=) n.62C>A c.1731C>A (p.Pro577=) c.2859C>A (p.Pro953=) c.2916C>A (p.Pro972=) c.2913C>A (p.Pro971=) c.2850C>A (p.Pro950=) c.2778C>A (p.Pro926=) c.2718C>A (p.Pro906=) c.2250C>A (p.Pro750=) c.2193C>A (p.Pro731=) c.2856C>A (p.Pro952=) c.2847C>A (p.Pro949=) c.2775C>A (p.Pro925=) c.2652C>A (p.Pro884=) c.2280C>A (p.Pro760=) c.2070C>A (p.Pro690=) c.2067C>A (p.Pro689=) c.2332-672C>A (n.2332-672C>A) | |
2 | g.24823303G>A | CA346062902 | ADCY3 | c.2792C>T (p.Pro931Leu) c.2789C>T (p.Pro930Leu) n.61C>T c.1730C>T (p.Pro577Leu) c.2858C>T (p.Pro953Leu) c.2915C>T (p.Pro972Leu) c.2912C>T (p.Pro971Leu) c.2849C>T (p.Pro950Leu) c.2777C>T (p.Pro926Leu) c.2717C>T (p.Pro906Leu) c.2249C>T (p.Pro750Leu) c.2192C>T (p.Pro731Leu) c.2855C>T (p.Pro952Leu) c.2846C>T (p.Pro949Leu) c.2774C>T (p.Pro925Leu) c.2651C>T (p.Pro884Leu) c.2279C>T (p.Pro760Leu) c.2069C>T (p.Pro690Leu) c.2066C>T (p.Pro689Leu) c.2332-673C>T (n.2332-673C>T) | |
2 | g.24823303G>C | CA346062903 | ADCY3 | c.2792C>G (p.Pro931Arg) c.2789C>G (p.Pro930Arg) n.61C>G c.1730C>G (p.Pro577Arg) c.2858C>G (p.Pro953Arg) c.2915C>G (p.Pro972Arg) c.2912C>G (p.Pro971Arg) c.2849C>G (p.Pro950Arg) c.2777C>G (p.Pro926Arg) c.2717C>G (p.Pro906Arg) c.2249C>G (p.Pro750Arg) c.2192C>G (p.Pro731Arg) c.2855C>G (p.Pro952Arg) c.2846C>G (p.Pro949Arg) c.2774C>G (p.Pro925Arg) c.2651C>G (p.Pro884Arg) c.2279C>G (p.Pro760Arg) c.2069C>G (p.Pro690Arg) c.2066C>G (p.Pro689Arg) c.2332-673C>G (n.2332-673C>G) | |
2 | g.24823303G>T | CA346062900 | ADCY3 | c.2792C>A (p.Pro931His) c.2789C>A (p.Pro930His) n.61C>A c.1730C>A (p.Pro577His) c.2858C>A (p.Pro953His) c.2915C>A (p.Pro972His) c.2912C>A (p.Pro971His) c.2849C>A (p.Pro950His) c.2777C>A (p.Pro926His) c.2717C>A (p.Pro906His) c.2249C>A (p.Pro750His) c.2192C>A (p.Pro731His) c.2855C>A (p.Pro952His) c.2846C>A (p.Pro949His) c.2774C>A (p.Pro925His) c.2651C>A (p.Pro884His) c.2279C>A (p.Pro760His) c.2069C>A (p.Pro690His) c.2066C>A (p.Pro689His) c.2332-673C>A (n.2332-673C>A) | |
2 | g.24823304G>A | CA346062907 | ADCY3 | c.2791C>T (p.Pro931Ser) c.2788C>T (p.Pro930Ser) n.60C>T c.1729C>T (p.Pro577Ser) c.2857C>T (p.Pro953Ser) c.2914C>T (p.Pro972Ser) c.2911C>T (p.Pro971Ser) c.2848C>T (p.Pro950Ser) c.2776C>T (p.Pro926Ser) c.2716C>T (p.Pro906Ser) c.2248C>T (p.Pro750Ser) c.2191C>T (p.Pro731Ser) c.2854C>T (p.Pro952Ser) c.2845C>T (p.Pro949Ser) c.2773C>T (p.Pro925Ser) c.2650C>T (p.Pro884Ser) c.2278C>T (p.Pro760Ser) c.2068C>T (p.Pro690Ser) c.2065C>T (p.Pro689Ser) c.2332-674C>T (n.2332-674C>T) | |
2 | g.24823304G>C | CA346062905 | ADCY3 | c.2791C>G (p.Pro931Ala) c.2788C>G (p.Pro930Ala) n.60C>G c.1729C>G (p.Pro577Ala) c.2857C>G (p.Pro953Ala) c.2914C>G (p.Pro972Ala) c.2911C>G (p.Pro971Ala) c.2848C>G (p.Pro950Ala) c.2776C>G (p.Pro926Ala) c.2716C>G (p.Pro906Ala) c.2248C>G (p.Pro750Ala) c.2191C>G (p.Pro731Ala) c.2854C>G (p.Pro952Ala) c.2845C>G (p.Pro949Ala) c.2773C>G (p.Pro925Ala) c.2650C>G (p.Pro884Ala) c.2278C>G (p.Pro760Ala) c.2068C>G (p.Pro690Ala) c.2065C>G (p.Pro689Ala) c.2332-674C>G (n.2332-674C>G) | |
2 | g.24823304G>T | CA346062911 | ADCY3 | c.2791C>A (p.Pro931Thr) c.2788C>A (p.Pro930Thr) n.60C>A c.1729C>A (p.Pro577Thr) c.2857C>A (p.Pro953Thr) c.2914C>A (p.Pro972Thr) c.2911C>A (p.Pro971Thr) c.2848C>A (p.Pro950Thr) c.2776C>A (p.Pro926Thr) c.2716C>A (p.Pro906Thr) c.2248C>A (p.Pro750Thr) c.2191C>A (p.Pro731Thr) c.2854C>A (p.Pro952Thr) c.2845C>A (p.Pro949Thr) c.2773C>A (p.Pro925Thr) c.2650C>A (p.Pro884Thr) c.2278C>A (p.Pro760Thr) c.2068C>A (p.Pro690Thr) c.2065C>A (p.Pro689Thr) c.2332-674C>A (n.2332-674C>A) | |
2 | g.24823305C>A | CA425172002 | ADCY3 | c.2790G>T (p.Leu930=) c.2787G>T (p.Leu929=) n.59G>T c.1728G>T (p.Leu576=) c.2856G>T (p.Leu952=) c.2913G>T (p.Leu971=) c.2910G>T (p.Leu970=) c.2847G>T (p.Leu949=) c.2775G>T (p.Leu925=) c.2715G>T (p.Leu905=) c.2247G>T (p.Leu749=) c.2190G>T (p.Leu730=) c.2853G>T (p.Leu951=) c.2844G>T (p.Leu948=) c.2772G>T (p.Leu924=) c.2649G>T (p.Leu883=) c.2277G>T (p.Leu759=) c.2067G>T (p.Leu689=) c.2064G>T (p.Leu688=) c.2332-675G>T (n.2332-675G>T) | |
2 | g.24823305C>G | CA425172003 | ADCY3 | c.2790G>C (p.Leu930=) c.2787G>C (p.Leu929=) n.59G>C c.1728G>C (p.Leu576=) c.2856G>C (p.Leu952=) c.2913G>C (p.Leu971=) c.2910G>C (p.Leu970=) c.2847G>C (p.Leu949=) c.2775G>C (p.Leu925=) c.2715G>C (p.Leu905=) c.2247G>C (p.Leu749=) c.2190G>C (p.Leu730=) c.2853G>C (p.Leu951=) c.2844G>C (p.Leu948=) c.2772G>C (p.Leu924=) c.2649G>C (p.Leu883=) c.2277G>C (p.Leu759=) c.2067G>C (p.Leu689=) c.2064G>C (p.Leu688=) c.2332-675G>C (n.2332-675G>C) | |
2 | g.24823305C>T | CA425172004 | ADCY3 | c.2790G>A (p.Leu930=) c.2787G>A (p.Leu929=) n.59G>A c.1728G>A (p.Leu576=) c.2856G>A (p.Leu952=) c.2913G>A (p.Leu971=) c.2910G>A (p.Leu970=) c.2847G>A (p.Leu949=) c.2775G>A (p.Leu925=) c.2715G>A (p.Leu905=) c.2247G>A (p.Leu749=) c.2190G>A (p.Leu730=) c.2853G>A (p.Leu951=) c.2844G>A (p.Leu948=) c.2772G>A (p.Leu924=) c.2649G>A (p.Leu883=) c.2277G>A (p.Leu759=) c.2067G>A (p.Leu689=) c.2064G>A (p.Leu688=) c.2332-675G>A (n.2332-675G>A) | gnomAD v4 |
2 | g.24823306A= | CA1239072291 | ADCY3 | c.2789T= (p.Leu930=) c.2786T= (p.Leu929=) n.58T= c.1727T= (p.Leu576=) c.2855T= (p.Leu952=) c.2912T= (p.Leu971=) c.2909T= (p.Leu970=) c.2846T= (p.Leu949=) c.2774T= (p.Leu925=) c.2714T= (p.Leu905=) c.2246T= (p.Leu749=) c.2189T= (p.Leu730=) c.2852T= (p.Leu951=) c.2843T= (p.Leu948=) c.2771T= (p.Leu924=) c.2648T= (p.Leu883=) c.2276T= (p.Leu759=) c.2066T= (p.Leu689=) c.2063T= (p.Leu688=) c.2332-676T= (n.2332-676T=) | |
2 | g.24823306A>C | CA346062913 | ADCY3 | c.2789T>G (p.Leu930Arg) c.2786T>G (p.Leu929Arg) n.58T>G c.1727T>G (p.Leu576Arg) c.2855T>G (p.Leu952Arg) c.2912T>G (p.Leu971Arg) c.2909T>G (p.Leu970Arg) c.2846T>G (p.Leu949Arg) c.2774T>G (p.Leu925Arg) c.2714T>G (p.Leu905Arg) c.2246T>G (p.Leu749Arg) c.2189T>G (p.Leu730Arg) c.2852T>G (p.Leu951Arg) c.2843T>G (p.Leu948Arg) c.2771T>G (p.Leu924Arg) c.2648T>G (p.Leu883Arg) c.2276T>G (p.Leu759Arg) c.2066T>G (p.Leu689Arg) c.2063T>G (p.Leu688Arg) c.2332-676T>G (n.2332-676T>G) | |
2 | g.24823306A>G | CA346062917 | ADCY3 | c.2789T>C (p.Leu930Pro) c.2786T>C (p.Leu929Pro) n.58T>C c.1727T>C (p.Leu576Pro) c.2855T>C (p.Leu952Pro) c.2912T>C (p.Leu971Pro) c.2909T>C (p.Leu970Pro) c.2846T>C (p.Leu949Pro) c.2774T>C (p.Leu925Pro) c.2714T>C (p.Leu905Pro) c.2246T>C (p.Leu749Pro) c.2189T>C (p.Leu730Pro) c.2852T>C (p.Leu951Pro) c.2843T>C (p.Leu948Pro) c.2771T>C (p.Leu924Pro) c.2648T>C (p.Leu883Pro) c.2276T>C (p.Leu759Pro) c.2066T>C (p.Leu689Pro) c.2063T>C (p.Leu688Pro) c.2332-676T>C (n.2332-676T>C) | gnomAD v4 |
2 | g.24823306A>T | CA346062915 | ADCY3 | c.2789T>A (p.Leu930Gln) c.2786T>A (p.Leu929Gln) n.58T>A c.1727T>A (p.Leu576Gln) c.2855T>A (p.Leu952Gln) c.2912T>A (p.Leu971Gln) c.2909T>A (p.Leu970Gln) c.2846T>A (p.Leu949Gln) c.2774T>A (p.Leu925Gln) c.2714T>A (p.Leu905Gln) c.2246T>A (p.Leu749Gln) c.2189T>A (p.Leu730Gln) c.2852T>A (p.Leu951Gln) c.2843T>A (p.Leu948Gln) c.2771T>A (p.Leu924Gln) c.2648T>A (p.Leu883Gln) c.2276T>A (p.Leu759Gln) c.2066T>A (p.Leu689Gln) c.2063T>A (p.Leu688Gln) c.2332-676T>A (n.2332-676T>A) | |
2 | g.24823307G>A | CA425172005 | ADCY3 | c.2788C>T (p.Leu930=) c.2785C>T (p.Leu929=) n.57C>T c.1726C>T (p.Leu576=) c.2854C>T (p.Leu952=) c.2911C>T (p.Leu971=) c.2908C>T (p.Leu970=) c.2845C>T (p.Leu949=) c.2773C>T (p.Leu925=) c.2713C>T (p.Leu905=) c.2245C>T (p.Leu749=) c.2188C>T (p.Leu730=) c.2851C>T (p.Leu951=) c.2842C>T (p.Leu948=) c.2770C>T (p.Leu924=) c.2647C>T (p.Leu883=) c.2275C>T (p.Leu759=) c.2065C>T (p.Leu689=) c.2062C>T (p.Leu688=) c.2332-677C>T (n.2332-677C>T) | gnomAD v4 |
2 | g.24823307G>C | CA346062919 | ADCY3 | c.2788C>G (p.Leu930Val) c.2785C>G (p.Leu929Val) n.57C>G c.1726C>G (p.Leu576Val) c.2854C>G (p.Leu952Val) c.2911C>G (p.Leu971Val) c.2908C>G (p.Leu970Val) c.2845C>G (p.Leu949Val) c.2773C>G (p.Leu925Val) c.2713C>G (p.Leu905Val) c.2245C>G (p.Leu749Val) c.2188C>G (p.Leu730Val) c.2851C>G (p.Leu951Val) c.2842C>G (p.Leu948Val) c.2770C>G (p.Leu924Val) c.2647C>G (p.Leu883Val) c.2275C>G (p.Leu759Val) c.2065C>G (p.Leu689Val) c.2062C>G (p.Leu688Val) c.2332-677C>G (n.2332-677C>G) | gnomAD v4 |
2 | g.24823307G>T | CA346062923 | ADCY3 | c.2788C>A (p.Leu930Met) c.2785C>A (p.Leu929Met) n.57C>A c.1726C>A (p.Leu576Met) c.2854C>A (p.Leu952Met) c.2911C>A (p.Leu971Met) c.2908C>A (p.Leu970Met) c.2845C>A (p.Leu949Met) c.2773C>A (p.Leu925Met) c.2713C>A (p.Leu905Met) c.2245C>A (p.Leu749Met) c.2188C>A (p.Leu730Met) c.2851C>A (p.Leu951Met) c.2842C>A (p.Leu948Met) c.2770C>A (p.Leu924Met) c.2647C>A (p.Leu883Met) c.2275C>A (p.Leu759Met) c.2065C>A (p.Leu689Met) c.2062C>A (p.Leu688Met) c.2332-677C>A (n.2332-677C>A) | |
2 | g.24823309dup | CA43682453 | ADCY3 | c.2788dup (p.Leu930ProfsTer6) c.2785dup (p.Leu929ProfsTer6) n.57dup c.1726dup (p.Leu576ProfsTer6) c.2854dup (p.Leu952ProfsTer6) c.2911dup (p.Leu971ProfsTer6) c.2908dup (p.Leu970ProfsTer6) c.2845dup (p.Leu949ProfsTer6) c.2773dup (p.Leu925ProfsTer6) c.2713dup (p.Leu905ProfsTer6) c.2245dup (p.Leu749ProfsTer6) c.2188dup (p.Leu730ProfsTer6) c.2851dup (p.Leu951ProfsTer6) c.2842dup (p.Leu948ProfsTer6) c.2770dup (p.Leu924ProfsTer6) c.2647dup (p.Leu883ProfsTer6) c.2275dup (p.Leu759ProfsTer6) c.2065dup (p.Leu689ProfsTer6) c.2062dup (p.Leu688ProfsTer6) c.2332-677dup (n.2332-677dup) | dbSNP |
2 | g.24823308G>A | CA425172006 | ADCY3 | c.2787C>T (p.Ser929=) c.2784C>T (p.Ser928=) n.56C>T c.1725C>T (p.Ser575=) c.2853C>T (p.Ser951=) c.2910C>T (p.Ser970=) c.2907C>T (p.Ser969=) c.2844C>T (p.Ser948=) c.2772C>T (p.Ser924=) c.2712C>T (p.Ser904=) c.2244C>T (p.Ser748=) c.2187C>T (p.Ser729=) c.2850C>T (p.Ser950=) c.2841C>T (p.Ser947=) c.2769C>T (p.Ser923=) c.2646C>T (p.Ser882=) c.2274C>T (p.Ser758=) c.2064C>T (p.Ser688=) c.2061C>T (p.Ser687=) c.2332-678C>T (n.2332-678C>T) | |
2 | g.24823308G>C | CA425172007 | ADCY3 | c.2787C>G (p.Ser929=) c.2784C>G (p.Ser928=) n.56C>G c.1725C>G (p.Ser575=) c.2853C>G (p.Ser951=) c.2910C>G (p.Ser970=) c.2907C>G (p.Ser969=) c.2844C>G (p.Ser948=) c.2772C>G (p.Ser924=) c.2712C>G (p.Ser904=) c.2244C>G (p.Ser748=) c.2187C>G (p.Ser729=) c.2850C>G (p.Ser950=) c.2841C>G (p.Ser947=) c.2769C>G (p.Ser923=) c.2646C>G (p.Ser882=) c.2274C>G (p.Ser758=) c.2064C>G (p.Ser688=) c.2061C>G (p.Ser687=) c.2332-678C>G (n.2332-678C>G) | |
2 | g.24823308G>T | CA425172008 | ADCY3 | c.2787C>A (p.Ser929=) c.2784C>A (p.Ser928=) n.56C>A c.1725C>A (p.Ser575=) c.2853C>A (p.Ser951=) c.2910C>A (p.Ser970=) c.2907C>A (p.Ser969=) c.2844C>A (p.Ser948=) c.2772C>A (p.Ser924=) c.2712C>A (p.Ser904=) c.2244C>A (p.Ser748=) c.2187C>A (p.Ser729=) c.2850C>A (p.Ser950=) c.2841C>A (p.Ser947=) c.2769C>A (p.Ser923=) c.2646C>A (p.Ser882=) c.2274C>A (p.Ser758=) c.2064C>A (p.Ser688=) c.2061C>A (p.Ser687=) c.2332-678C>A (n.2332-678C>A) | |
2 | g.24823309G>A | CA346062924 | ADCY3 | c.2786C>T (p.Ser929Phe) c.2783C>T (p.Ser928Phe) n.55C>T c.1724C>T (p.Ser575Phe) c.2852C>T (p.Ser951Phe) c.2909C>T (p.Ser970Phe) c.2906C>T (p.Ser969Phe) c.2843C>T (p.Ser948Phe) c.2771C>T (p.Ser924Phe) c.2711C>T (p.Ser904Phe) c.2243C>T (p.Ser748Phe) c.2186C>T (p.Ser729Phe) c.2849C>T (p.Ser950Phe) c.2840C>T (p.Ser947Phe) c.2768C>T (p.Ser923Phe) c.2645C>T (p.Ser882Phe) c.2273C>T (p.Ser758Phe) c.2063C>T (p.Ser688Phe) c.2060C>T (p.Ser687Phe) c.2332-679C>T (n.2332-679C>T) | |
2 | g.24823309G>C | CA346062926 | ADCY3 | c.2786C>G (p.Ser929Cys) c.2783C>G (p.Ser928Cys) n.55C>G c.1724C>G (p.Ser575Cys) c.2852C>G (p.Ser951Cys) c.2909C>G (p.Ser970Cys) c.2906C>G (p.Ser969Cys) c.2843C>G (p.Ser948Cys) c.2771C>G (p.Ser924Cys) c.2711C>G (p.Ser904Cys) c.2243C>G (p.Ser748Cys) c.2186C>G (p.Ser729Cys) c.2849C>G (p.Ser950Cys) c.2840C>G (p.Ser947Cys) c.2768C>G (p.Ser923Cys) c.2645C>G (p.Ser882Cys) c.2273C>G (p.Ser758Cys) c.2063C>G (p.Ser688Cys) c.2060C>G (p.Ser687Cys) c.2332-679C>G (n.2332-679C>G) | |
2 | g.24823309G>T | CA346062929 | ADCY3 | c.2786C>A (p.Ser929Tyr) c.2783C>A (p.Ser928Tyr) n.55C>A c.1724C>A (p.Ser575Tyr) c.2852C>A (p.Ser951Tyr) c.2909C>A (p.Ser970Tyr) c.2906C>A (p.Ser969Tyr) c.2843C>A (p.Ser948Tyr) c.2771C>A (p.Ser924Tyr) c.2711C>A (p.Ser904Tyr) c.2243C>A (p.Ser748Tyr) c.2186C>A (p.Ser729Tyr) c.2849C>A (p.Ser950Tyr) c.2840C>A (p.Ser947Tyr) c.2768C>A (p.Ser923Tyr) c.2645C>A (p.Ser882Tyr) c.2273C>A (p.Ser758Tyr) c.2063C>A (p.Ser688Tyr) c.2060C>A (p.Ser687Tyr) c.2332-679C>A (n.2332-679C>A) | |
2 | g.24823310A>C | CA346062931 | ADCY3 | c.2785T>G (p.Ser929Ala) c.2782T>G (p.Ser928Ala) n.54T>G c.1723T>G (p.Ser575Ala) c.2851T>G (p.Ser951Ala) c.2908T>G (p.Ser970Ala) c.2905T>G (p.Ser969Ala) c.2842T>G (p.Ser948Ala) c.2770T>G (p.Ser924Ala) c.2710T>G (p.Ser904Ala) c.2242T>G (p.Ser748Ala) c.2185T>G (p.Ser729Ala) c.2848T>G (p.Ser950Ala) c.2839T>G (p.Ser947Ala) c.2767T>G (p.Ser923Ala) c.2644T>G (p.Ser882Ala) c.2272T>G (p.Ser758Ala) c.2062T>G (p.Ser688Ala) c.2059T>G (p.Ser687Ala) c.2332-680T>G (n.2332-680T>G) | gnomAD v4 |
2 | g.24823310A>G | CA346062933 | ADCY3 | c.2785T>C (p.Ser929Pro) c.2782T>C (p.Ser928Pro) n.54T>C c.1723T>C (p.Ser575Pro) c.2851T>C (p.Ser951Pro) c.2908T>C (p.Ser970Pro) c.2905T>C (p.Ser969Pro) c.2842T>C (p.Ser948Pro) c.2770T>C (p.Ser924Pro) c.2710T>C (p.Ser904Pro) c.2242T>C (p.Ser748Pro) c.2185T>C (p.Ser729Pro) c.2848T>C (p.Ser950Pro) c.2839T>C (p.Ser947Pro) c.2767T>C (p.Ser923Pro) c.2644T>C (p.Ser882Pro) c.2272T>C (p.Ser758Pro) c.2062T>C (p.Ser688Pro) c.2059T>C (p.Ser687Pro) c.2332-680T>C (n.2332-680T>C) | |
2 | g.24823310A>T | CA346062935 | ADCY3 | c.2785T>A (p.Ser929Thr) c.2782T>A (p.Ser928Thr) n.54T>A c.1723T>A (p.Ser575Thr) c.2851T>A (p.Ser951Thr) c.2908T>A (p.Ser970Thr) c.2905T>A (p.Ser969Thr) c.2842T>A (p.Ser948Thr) c.2770T>A (p.Ser924Thr) c.2710T>A (p.Ser904Thr) c.2242T>A (p.Ser748Thr) c.2185T>A (p.Ser729Thr) c.2848T>A (p.Ser950Thr) c.2839T>A (p.Ser947Thr) c.2767T>A (p.Ser923Thr) c.2644T>A (p.Ser882Thr) c.2272T>A (p.Ser758Thr) c.2062T>A (p.Ser688Thr) c.2059T>A (p.Ser687Thr) c.2332-680T>A (n.2332-680T>A) | |
2 | g.24823311G>A | CA1553612 | ADCY3 | c.2784C>T (p.Ala928=) c.2781C>T (p.Ala927=) n.53C>T c.1722C>T (p.Ala574=) c.2850C>T (p.Ala950=) c.2907C>T (p.Ala969=) c.2904C>T (p.Ala968=) c.2841C>T (p.Ala947=) c.2769C>T (p.Ala923=) c.2709C>T (p.Ala903=) c.2241C>T (p.Ala747=) c.2184C>T (p.Ala728=) c.2847C>T (p.Ala949=) c.2838C>T (p.Ala946=) c.2766C>T (p.Ala922=) c.2643C>T (p.Ala881=) c.2271C>T (p.Ala757=) c.2061C>T (p.Ala687=) c.2058C>T (p.Ala686=) c.2332-681C>T (n.2332-681C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.24823311G>C | CA425172010 | ADCY3 | c.2784C>G (p.Ala928=) c.2781C>G (p.Ala927=) n.53C>G c.1722C>G (p.Ala574=) c.2850C>G (p.Ala950=) c.2907C>G (p.Ala969=) c.2904C>G (p.Ala968=) c.2841C>G (p.Ala947=) c.2769C>G (p.Ala923=) c.2709C>G (p.Ala903=) c.2241C>G (p.Ala747=) c.2184C>G (p.Ala728=) c.2847C>G (p.Ala949=) c.2838C>G (p.Ala946=) c.2766C>G (p.Ala922=) c.2643C>G (p.Ala881=) c.2271C>G (p.Ala757=) c.2061C>G (p.Ala687=) c.2058C>G (p.Ala686=) c.2332-681C>G (n.2332-681C>G) | |
2 | g.24823311G= | CA1239072292 | ADCY3 | c.2784C= (p.Ala928=) c.2781C= (p.Ala927=) n.53C= c.1722C= (p.Ala574=) c.2850C= (p.Ala950=) c.2907C= (p.Ala969=) c.2904C= (p.Ala968=) c.2841C= (p.Ala947=) c.2769C= (p.Ala923=) c.2709C= (p.Ala903=) c.2241C= (p.Ala747=) c.2184C= (p.Ala728=) c.2847C= (p.Ala949=) c.2838C= (p.Ala946=) c.2766C= (p.Ala922=) c.2643C= (p.Ala881=) c.2271C= (p.Ala757=) c.2061C= (p.Ala687=) c.2058C= (p.Ala686=) c.2332-681C= (n.2332-681C=) | |
2 | g.24823311G>T | CA425172009 | ADCY3 | c.2784C>A (p.Ala928=) c.2781C>A (p.Ala927=) n.53C>A c.1722C>A (p.Ala574=) c.2850C>A (p.Ala950=) c.2907C>A (p.Ala969=) c.2904C>A (p.Ala968=) c.2841C>A (p.Ala947=) c.2769C>A (p.Ala923=) c.2709C>A (p.Ala903=) c.2241C>A (p.Ala747=) c.2184C>A (p.Ala728=) c.2847C>A (p.Ala949=) c.2838C>A (p.Ala946=) c.2766C>A (p.Ala922=) c.2643C>A (p.Ala881=) c.2271C>A (p.Ala757=) c.2061C>A (p.Ala687=) c.2058C>A (p.Ala686=) c.2332-681C>A (n.2332-681C>A) | |
2 | g.24823312G>A | CA346062938 | ADCY3 | c.2783C>T (p.Ala928Val) c.2780C>T (p.Ala927Val) n.52C>T c.1721C>T (p.Ala574Val) c.2849C>T (p.Ala950Val) c.2906C>T (p.Ala969Val) c.2903C>T (p.Ala968Val) c.2840C>T (p.Ala947Val) c.2768C>T (p.Ala923Val) c.2708C>T (p.Ala903Val) c.2240C>T (p.Ala747Val) c.2183C>T (p.Ala728Val) c.2846C>T (p.Ala949Val) c.2837C>T (p.Ala946Val) c.2765C>T (p.Ala922Val) c.2642C>T (p.Ala881Val) c.2270C>T (p.Ala757Val) c.2060C>T (p.Ala687Val) c.2057C>T (p.Ala686Val) c.2332-682C>T (n.2332-682C>T) | dbSNP gnomAD v2 |
2 | g.24823312G>C | CA346062937 | ADCY3 | c.2783C>G (p.Ala928Gly) c.2780C>G (p.Ala927Gly) n.52C>G c.1721C>G (p.Ala574Gly) c.2849C>G (p.Ala950Gly) c.2906C>G (p.Ala969Gly) c.2903C>G (p.Ala968Gly) c.2840C>G (p.Ala947Gly) c.2768C>G (p.Ala923Gly) c.2708C>G (p.Ala903Gly) c.2240C>G (p.Ala747Gly) c.2183C>G (p.Ala728Gly) c.2846C>G (p.Ala949Gly) c.2837C>G (p.Ala946Gly) c.2765C>G (p.Ala922Gly) c.2642C>G (p.Ala881Gly) c.2270C>G (p.Ala757Gly) c.2060C>G (p.Ala687Gly) c.2057C>G (p.Ala686Gly) c.2332-682C>G (n.2332-682C>G) | |
2 | g.24823312G= | CA1239072293 | ADCY3 | c.2783C= (p.Ala928=) c.2780C= (p.Ala927=) n.52C= c.1721C= (p.Ala574=) c.2849C= (p.Ala950=) c.2906C= (p.Ala969=) c.2903C= (p.Ala968=) c.2840C= (p.Ala947=) c.2768C= (p.Ala923=) c.2708C= (p.Ala903=) c.2240C= (p.Ala747=) c.2183C= (p.Ala728=) c.2846C= (p.Ala949=) c.2837C= (p.Ala946=) c.2765C= (p.Ala922=) c.2642C= (p.Ala881=) c.2270C= (p.Ala757=) c.2060C= (p.Ala687=) c.2057C= (p.Ala686=) c.2332-682C= (n.2332-682C=) | |
2 | g.24823312G>T | CA346062936 | ADCY3 | c.2783C>A (p.Ala928Asp) c.2780C>A (p.Ala927Asp) n.52C>A c.1721C>A (p.Ala574Asp) c.2849C>A (p.Ala950Asp) c.2906C>A (p.Ala969Asp) c.2903C>A (p.Ala968Asp) c.2840C>A (p.Ala947Asp) c.2768C>A (p.Ala923Asp) c.2708C>A (p.Ala903Asp) c.2240C>A (p.Ala747Asp) c.2183C>A (p.Ala728Asp) c.2846C>A (p.Ala949Asp) c.2837C>A (p.Ala946Asp) c.2765C>A (p.Ala922Asp) c.2642C>A (p.Ala881Asp) c.2270C>A (p.Ala757Asp) c.2060C>A (p.Ala687Asp) c.2057C>A (p.Ala686Asp) c.2332-682C>A (n.2332-682C>A) | |
2 | g.24823313C>A | CA346062939 | ADCY3 | c.2782G>T (p.Ala928Ser) c.2779G>T (p.Ala927Ser) n.51G>T c.1720G>T (p.Ala574Ser) c.2848G>T (p.Ala950Ser) c.2905G>T (p.Ala969Ser) c.2902G>T (p.Ala968Ser) c.2839G>T (p.Ala947Ser) c.2767G>T (p.Ala923Ser) c.2707G>T (p.Ala903Ser) c.2239G>T (p.Ala747Ser) c.2182G>T (p.Ala728Ser) c.2845G>T (p.Ala949Ser) c.2836G>T (p.Ala946Ser) c.2764G>T (p.Ala922Ser) c.2641G>T (p.Ala881Ser) c.2269G>T (p.Ala757Ser) c.2059G>T (p.Ala687Ser) c.2056G>T (p.Ala686Ser) c.2332-683G>T (n.2332-683G>T) | |
2 | g.24823313C>G | CA346062940 | ADCY3 | c.2782G>C (p.Ala928Pro) c.2779G>C (p.Ala927Pro) n.51G>C c.1720G>C (p.Ala574Pro) c.2848G>C (p.Ala950Pro) c.2905G>C (p.Ala969Pro) c.2902G>C (p.Ala968Pro) c.2839G>C (p.Ala947Pro) c.2767G>C (p.Ala923Pro) c.2707G>C (p.Ala903Pro) c.2239G>C (p.Ala747Pro) c.2182G>C (p.Ala728Pro) c.2845G>C (p.Ala949Pro) c.2836G>C (p.Ala946Pro) c.2764G>C (p.Ala922Pro) c.2641G>C (p.Ala881Pro) c.2269G>C (p.Ala757Pro) c.2059G>C (p.Ala687Pro) c.2056G>C (p.Ala686Pro) c.2332-683G>C (n.2332-683G>C) | |
2 | g.24823313C>T | CA346062941 | ADCY3 | c.2782G>A (p.Ala928Thr) c.2779G>A (p.Ala927Thr) n.51G>A c.1720G>A (p.Ala574Thr) c.2848G>A (p.Ala950Thr) c.2905G>A (p.Ala969Thr) c.2902G>A (p.Ala968Thr) c.2839G>A (p.Ala947Thr) c.2767G>A (p.Ala923Thr) c.2707G>A (p.Ala903Thr) c.2239G>A (p.Ala747Thr) c.2182G>A (p.Ala728Thr) c.2845G>A (p.Ala949Thr) c.2836G>A (p.Ala946Thr) c.2764G>A (p.Ala922Thr) c.2641G>A (p.Ala881Thr) c.2269G>A (p.Ala757Thr) c.2059G>A (p.Ala687Thr) c.2056G>A (p.Ala686Thr) c.2332-683G>A (n.2332-683G>A) | |
2 | g.24823314A>C | CA346062942 | ADCY3 | c.2781T>G (p.Phe927Leu) c.2778T>G (p.Phe926Leu) n.50T>G c.1719T>G (p.Phe573Leu) c.2847T>G (p.Phe949Leu) c.2904T>G (p.Phe968Leu) c.2901T>G (p.Phe967Leu) c.2838T>G (p.Phe946Leu) c.2766T>G (p.Phe922Leu) c.2706T>G (p.Phe902Leu) c.2238T>G (p.Phe746Leu) c.2181T>G (p.Phe727Leu) c.2844T>G (p.Phe948Leu) c.2835T>G (p.Phe945Leu) c.2763T>G (p.Phe921Leu) c.2640T>G (p.Phe880Leu) c.2268T>G (p.Phe756Leu) c.2058T>G (p.Phe686Leu) c.2055T>G (p.Phe685Leu) c.2332-684T>G (n.2332-684T>G) | |
2 | g.24823314A>G | CA425172011 | ADCY3 | c.2781T>C (p.Phe927=) c.2778T>C (p.Phe926=) n.50T>C c.1719T>C (p.Phe573=) c.2847T>C (p.Phe949=) c.2904T>C (p.Phe968=) c.2901T>C (p.Phe967=) c.2838T>C (p.Phe946=) c.2766T>C (p.Phe922=) c.2706T>C (p.Phe902=) c.2238T>C (p.Phe746=) c.2181T>C (p.Phe727=) c.2844T>C (p.Phe948=) c.2835T>C (p.Phe945=) c.2763T>C (p.Phe921=) c.2640T>C (p.Phe880=) c.2268T>C (p.Phe756=) c.2058T>C (p.Phe686=) c.2055T>C (p.Phe685=) c.2332-684T>C (n.2332-684T>C) | |
2 | g.24823314A>T | CA346062943 | ADCY3 | c.2781T>A (p.Phe927Leu) c.2778T>A (p.Phe926Leu) n.50T>A c.1719T>A (p.Phe573Leu) c.2847T>A (p.Phe949Leu) c.2904T>A (p.Phe968Leu) c.2901T>A (p.Phe967Leu) c.2838T>A (p.Phe946Leu) c.2766T>A (p.Phe922Leu) c.2706T>A (p.Phe902Leu) c.2238T>A (p.Phe746Leu) c.2181T>A (p.Phe727Leu) c.2844T>A (p.Phe948Leu) c.2835T>A (p.Phe945Leu) c.2763T>A (p.Phe921Leu) c.2640T>A (p.Phe880Leu) c.2268T>A (p.Phe756Leu) c.2058T>A (p.Phe686Leu) c.2055T>A (p.Phe685Leu) c.2332-684T>A (n.2332-684T>A) | |
2 | g.24823315A>C | CA346062945 | ADCY3 | c.2780T>G (p.Phe927Cys) c.2777T>G (p.Phe926Cys) n.49T>G c.1718T>G (p.Phe573Cys) c.2846T>G (p.Phe949Cys) c.2903T>G (p.Phe968Cys) c.2900T>G (p.Phe967Cys) c.2837T>G (p.Phe946Cys) c.2765T>G (p.Phe922Cys) c.2705T>G (p.Phe902Cys) c.2237T>G (p.Phe746Cys) c.2180T>G (p.Phe727Cys) c.2843T>G (p.Phe948Cys) c.2834T>G (p.Phe945Cys) c.2762T>G (p.Phe921Cys) c.2639T>G (p.Phe880Cys) c.2267T>G (p.Phe756Cys) c.2057T>G (p.Phe686Cys) c.2054T>G (p.Phe685Cys) c.2332-685T>G (n.2332-685T>G) | |
2 | g.24823315A>G | CA346062946 | ADCY3 | c.2780T>C (p.Phe927Ser) c.2777T>C (p.Phe926Ser) n.49T>C c.1718T>C (p.Phe573Ser) c.2846T>C (p.Phe949Ser) c.2903T>C (p.Phe968Ser) c.2900T>C (p.Phe967Ser) c.2837T>C (p.Phe946Ser) c.2765T>C (p.Phe922Ser) c.2705T>C (p.Phe902Ser) c.2237T>C (p.Phe746Ser) c.2180T>C (p.Phe727Ser) c.2843T>C (p.Phe948Ser) c.2834T>C (p.Phe945Ser) c.2762T>C (p.Phe921Ser) c.2639T>C (p.Phe880Ser) c.2267T>C (p.Phe756Ser) c.2057T>C (p.Phe686Ser) c.2054T>C (p.Phe685Ser) c.2332-685T>C (n.2332-685T>C) | gnomAD v4 |
2 | g.24823315A>T | CA346062947 | ADCY3 | c.2780T>A (p.Phe927Tyr) c.2777T>A (p.Phe926Tyr) n.49T>A c.1718T>A (p.Phe573Tyr) c.2846T>A (p.Phe949Tyr) c.2903T>A (p.Phe968Tyr) c.2900T>A (p.Phe967Tyr) c.2837T>A (p.Phe946Tyr) c.2765T>A (p.Phe922Tyr) c.2705T>A (p.Phe902Tyr) c.2237T>A (p.Phe746Tyr) c.2180T>A (p.Phe727Tyr) c.2843T>A (p.Phe948Tyr) c.2834T>A (p.Phe945Tyr) c.2762T>A (p.Phe921Tyr) c.2639T>A (p.Phe880Tyr) c.2267T>A (p.Phe756Tyr) c.2057T>A (p.Phe686Tyr) c.2054T>A (p.Phe685Tyr) c.2332-685T>A (n.2332-685T>A) | |
2 | g.24823316A>C | CA346062950 | ADCY3 | c.2779T>G (p.Phe927Val) c.2776T>G (p.Phe926Val) n.48T>G c.1717T>G (p.Phe573Val) c.2845T>G (p.Phe949Val) c.2902T>G (p.Phe968Val) c.2899T>G (p.Phe967Val) c.2836T>G (p.Phe946Val) c.2764T>G (p.Phe922Val) c.2704T>G (p.Phe902Val) c.2236T>G (p.Phe746Val) c.2179T>G (p.Phe727Val) c.2842T>G (p.Phe948Val) c.2833T>G (p.Phe945Val) c.2761T>G (p.Phe921Val) c.2638T>G (p.Phe880Val) c.2266T>G (p.Phe756Val) c.2056T>G (p.Phe686Val) c.2053T>G (p.Phe685Val) c.2332-686T>G (n.2332-686T>G) | |
2 | g.24823316A>G | CA346062951 | ADCY3 | c.2779T>C (p.Phe927Leu) c.2776T>C (p.Phe926Leu) n.48T>C c.1717T>C (p.Phe573Leu) c.2845T>C (p.Phe949Leu) c.2902T>C (p.Phe968Leu) c.2899T>C (p.Phe967Leu) c.2836T>C (p.Phe946Leu) c.2764T>C (p.Phe922Leu) c.2704T>C (p.Phe902Leu) c.2236T>C (p.Phe746Leu) c.2179T>C (p.Phe727Leu) c.2842T>C (p.Phe948Leu) c.2833T>C (p.Phe945Leu) c.2761T>C (p.Phe921Leu) c.2638T>C (p.Phe880Leu) c.2266T>C (p.Phe756Leu) c.2056T>C (p.Phe686Leu) c.2053T>C (p.Phe685Leu) c.2332-686T>C (n.2332-686T>C) | |
2 | g.24823316A>T | CA346062953 | ADCY3 | c.2779T>A (p.Phe927Ile) c.2776T>A (p.Phe926Ile) n.48T>A c.1717T>A (p.Phe573Ile) c.2845T>A (p.Phe949Ile) c.2902T>A (p.Phe968Ile) c.2899T>A (p.Phe967Ile) c.2836T>A (p.Phe946Ile) c.2764T>A (p.Phe922Ile) c.2704T>A (p.Phe902Ile) c.2236T>A (p.Phe746Ile) c.2179T>A (p.Phe727Ile) c.2842T>A (p.Phe948Ile) c.2833T>A (p.Phe945Ile) c.2761T>A (p.Phe921Ile) c.2638T>A (p.Phe880Ile) c.2266T>A (p.Phe756Ile) c.2056T>A (p.Phe686Ile) c.2053T>A (p.Phe685Ile) c.2332-686T>A (n.2332-686T>A) | |
2 | g.24823317C>A | CA346062957 | ADCY3 | c.2778G>T (p.Met926Ile) c.2775G>T (p.Met925Ile) n.47G>T c.1716G>T (p.Met572Ile) c.2844G>T (p.Met948Ile) c.2901G>T (p.Met967Ile) c.2898G>T (p.Met966Ile) c.2835G>T (p.Met945Ile) c.2763G>T (p.Met921Ile) c.2703G>T (p.Met901Ile) c.2235G>T (p.Met745Ile) c.2178G>T (p.Met726Ile) c.2841G>T (p.Met947Ile) c.2832G>T (p.Met944Ile) c.2760G>T (p.Met920Ile) c.2637G>T (p.Met879Ile) c.2265G>T (p.Met755Ile) c.2055G>T (p.Met685Ile) c.2052G>T (p.Met684Ile) c.2332-687G>T (n.2332-687G>T) | COSMIC |
2 | g.24823317C= | CA1239072294 | ADCY3 | c.2778G= (p.Met926=) c.2775G= (p.Met925=) n.47G= c.1716G= (p.Met572=) c.2844G= (p.Met948=) c.2901G= (p.Met967=) c.2898G= (p.Met966=) c.2835G= (p.Met945=) c.2763G= (p.Met921=) c.2703G= (p.Met901=) c.2235G= (p.Met745=) c.2178G= (p.Met726=) c.2841G= (p.Met947=) c.2832G= (p.Met944=) c.2760G= (p.Met920=) c.2637G= (p.Met879=) c.2265G= (p.Met755=) c.2055G= (p.Met685=) c.2052G= (p.Met684=) c.2332-687G= (n.2332-687G=) | |
2 | g.24823317C>G | CA346062959 | ADCY3 | c.2778G>C (p.Met926Ile) c.2775G>C (p.Met925Ile) n.47G>C c.1716G>C (p.Met572Ile) c.2844G>C (p.Met948Ile) c.2901G>C (p.Met967Ile) c.2898G>C (p.Met966Ile) c.2835G>C (p.Met945Ile) c.2763G>C (p.Met921Ile) c.2703G>C (p.Met901Ile) c.2235G>C (p.Met745Ile) c.2178G>C (p.Met726Ile) c.2841G>C (p.Met947Ile) c.2832G>C (p.Met944Ile) c.2760G>C (p.Met920Ile) c.2637G>C (p.Met879Ile) c.2265G>C (p.Met755Ile) c.2055G>C (p.Met685Ile) c.2052G>C (p.Met684Ile) c.2332-687G>C (n.2332-687G>C) | gnomAD v4 |
2 | g.24823317C>T | CA346062956 | ADCY3 | c.2778G>A (p.Met926Ile) c.2775G>A (p.Met925Ile) n.47G>A c.1716G>A (p.Met572Ile) c.2844G>A (p.Met948Ile) c.2901G>A (p.Met967Ile) c.2898G>A (p.Met966Ile) c.2835G>A (p.Met945Ile) c.2763G>A (p.Met921Ile) c.2703G>A (p.Met901Ile) c.2235G>A (p.Met745Ile) c.2178G>A (p.Met726Ile) c.2841G>A (p.Met947Ile) c.2832G>A (p.Met944Ile) c.2760G>A (p.Met920Ile) c.2637G>A (p.Met879Ile) c.2265G>A (p.Met755Ile) c.2055G>A (p.Met685Ile) c.2052G>A (p.Met684Ile) c.2332-687G>A (n.2332-687G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.24823318A>C | CA346062962 | ADCY3 | c.2777T>G (p.Met926Arg) c.2774T>G (p.Met925Arg) n.46T>G c.1715T>G (p.Met572Arg) c.2843T>G (p.Met948Arg) c.2900T>G (p.Met967Arg) c.2897T>G (p.Met966Arg) c.2834T>G (p.Met945Arg) c.2762T>G (p.Met921Arg) c.2702T>G (p.Met901Arg) c.2234T>G (p.Met745Arg) c.2177T>G (p.Met726Arg) c.2840T>G (p.Met947Arg) c.2831T>G (p.Met944Arg) c.2759T>G (p.Met920Arg) c.2636T>G (p.Met879Arg) c.2264T>G (p.Met755Arg) c.2054T>G (p.Met685Arg) c.2051T>G (p.Met684Arg) c.2332-688T>G (n.2332-688T>G) | |
2 | g.24823318A>G | CA346062964 | ADCY3 | c.2777T>C (p.Met926Thr) c.2774T>C (p.Met925Thr) n.46T>C c.1715T>C (p.Met572Thr) c.2843T>C (p.Met948Thr) c.2900T>C (p.Met967Thr) c.2897T>C (p.Met966Thr) c.2834T>C (p.Met945Thr) c.2762T>C (p.Met921Thr) c.2702T>C (p.Met901Thr) c.2234T>C (p.Met745Thr) c.2177T>C (p.Met726Thr) c.2840T>C (p.Met947Thr) c.2831T>C (p.Met944Thr) c.2759T>C (p.Met920Thr) c.2636T>C (p.Met879Thr) c.2264T>C (p.Met755Thr) c.2054T>C (p.Met685Thr) c.2051T>C (p.Met684Thr) c.2332-688T>C (n.2332-688T>C) | gnomAD v4 |
2 | g.24823318A>T | CA346062967 | ADCY3 | c.2777T>A (p.Met926Lys) c.2774T>A (p.Met925Lys) n.46T>A c.1715T>A (p.Met572Lys) c.2843T>A (p.Met948Lys) c.2900T>A (p.Met967Lys) c.2897T>A (p.Met966Lys) c.2834T>A (p.Met945Lys) c.2762T>A (p.Met921Lys) c.2702T>A (p.Met901Lys) c.2234T>A (p.Met745Lys) c.2177T>A (p.Met726Lys) c.2840T>A (p.Met947Lys) c.2831T>A (p.Met944Lys) c.2759T>A (p.Met920Lys) c.2636T>A (p.Met879Lys) c.2264T>A (p.Met755Lys) c.2054T>A (p.Met685Lys) c.2051T>A (p.Met684Lys) c.2332-688T>A (n.2332-688T>A) | |
2 | g.24823319T>A | CA346062970 | ADCY3 | c.2776A>T (p.Met926Leu) c.2773A>T (p.Met925Leu) n.45A>T c.1714A>T (p.Met572Leu) c.2842A>T (p.Met948Leu) c.2899A>T (p.Met967Leu) c.2896A>T (p.Met966Leu) c.2833A>T (p.Met945Leu) c.2761A>T (p.Met921Leu) c.2701A>T (p.Met901Leu) c.2233A>T (p.Met745Leu) c.2176A>T (p.Met726Leu) c.2839A>T (p.Met947Leu) c.2830A>T (p.Met944Leu) c.2758A>T (p.Met920Leu) c.2635A>T (p.Met879Leu) c.2263A>T (p.Met755Leu) c.2053A>T (p.Met685Leu) c.2050A>T (p.Met684Leu) c.2332-689A>T (n.2332-689A>T) | |
2 | g.24823319T>C | CA346062971 | ADCY3 | c.2776A>G (p.Met926Val) c.2773A>G (p.Met925Val) n.45A>G c.1714A>G (p.Met572Val) c.2842A>G (p.Met948Val) c.2899A>G (p.Met967Val) c.2896A>G (p.Met966Val) c.2833A>G (p.Met945Val) c.2761A>G (p.Met921Val) c.2701A>G (p.Met901Val) c.2233A>G (p.Met745Val) c.2176A>G (p.Met726Val) c.2839A>G (p.Met947Val) c.2830A>G (p.Met944Val) c.2758A>G (p.Met920Val) c.2635A>G (p.Met879Val) c.2263A>G (p.Met755Val) c.2053A>G (p.Met685Val) c.2050A>G (p.Met684Val) c.2332-689A>G (n.2332-689A>G) | dbSNP gnomAD v4 |
2 | g.24823319T>G | CA346062972 | ADCY3 | c.2776A>C (p.Met926Leu) c.2773A>C (p.Met925Leu) n.45A>C c.1714A>C (p.Met572Leu) c.2842A>C (p.Met948Leu) c.2899A>C (p.Met967Leu) c.2896A>C (p.Met966Leu) c.2833A>C (p.Met945Leu) c.2761A>C (p.Met921Leu) c.2701A>C (p.Met901Leu) c.2233A>C (p.Met745Leu) c.2176A>C (p.Met726Leu) c.2839A>C (p.Met947Leu) c.2830A>C (p.Met944Leu) c.2758A>C (p.Met920Leu) c.2635A>C (p.Met879Leu) c.2263A>C (p.Met755Leu) c.2053A>C (p.Met685Leu) c.2050A>C (p.Met684Leu) c.2332-689A>C (n.2332-689A>C) | |
2 | g.24823319T= | CA1239072295 | ADCY3 | c.2776A= (p.Met926=) c.2773A= (p.Met925=) n.45A= c.1714A= (p.Met572=) c.2842A= (p.Met948=) c.2899A= (p.Met967=) c.2896A= (p.Met966=) c.2833A= (p.Met945=) c.2761A= (p.Met921=) c.2701A= (p.Met901=) c.2233A= (p.Met745=) c.2176A= (p.Met726=) c.2839A= (p.Met947=) c.2830A= (p.Met944=) c.2758A= (p.Met920=) c.2635A= (p.Met879=) c.2263A= (p.Met755=) c.2053A= (p.Met685=) c.2050A= (p.Met684=) c.2332-689A= (n.2332-689A=) | |
2 | g.24823320G>A | CA425172012 | ADCY3 | c.2775C>T (p.Val925=) c.2772C>T (p.Val924=) n.44C>T c.1713C>T (p.Val571=) c.2841C>T (p.Val947=) c.2898C>T (p.Val966=) c.2895C>T (p.Val965=) c.2832C>T (p.Val944=) c.2760C>T (p.Val920=) c.2700C>T (p.Val900=) c.2232C>T (p.Val744=) c.2175C>T (p.Val725=) c.2838C>T (p.Val946=) c.2829C>T (p.Val943=) c.2757C>T (p.Val919=) c.2634C>T (p.Val878=) c.2262C>T (p.Val754=) c.2052C>T (p.Val684=) c.2049C>T (p.Val683=) c.2332-690C>T (n.2332-690C>T) | |
2 | g.24823320G>C | CA425172013 | ADCY3 | c.2775C>G (p.Val925=) c.2772C>G (p.Val924=) n.44C>G c.1713C>G (p.Val571=) c.2841C>G (p.Val947=) c.2898C>G (p.Val966=) c.2895C>G (p.Val965=) c.2832C>G (p.Val944=) c.2760C>G (p.Val920=) c.2700C>G (p.Val900=) c.2232C>G (p.Val744=) c.2175C>G (p.Val725=) c.2838C>G (p.Val946=) c.2829C>G (p.Val943=) c.2757C>G (p.Val919=) c.2634C>G (p.Val878=) c.2262C>G (p.Val754=) c.2052C>G (p.Val684=) c.2049C>G (p.Val683=) c.2332-690C>G (n.2332-690C>G) | |
2 | g.24823320G>T | CA425172014 | ADCY3 | c.2775C>A (p.Val925=) c.2772C>A (p.Val924=) n.44C>A c.1713C>A (p.Val571=) c.2841C>A (p.Val947=) c.2898C>A (p.Val966=) c.2895C>A (p.Val965=) c.2832C>A (p.Val944=) c.2760C>A (p.Val920=) c.2700C>A (p.Val900=) c.2232C>A (p.Val744=) c.2175C>A (p.Val725=) c.2838C>A (p.Val946=) c.2829C>A (p.Val943=) c.2757C>A (p.Val919=) c.2634C>A (p.Val878=) c.2262C>A (p.Val754=) c.2052C>A (p.Val684=) c.2049C>A (p.Val683=) c.2332-690C>A (n.2332-690C>A) | |
2 | g.24823321A>C | CA346062973 | ADCY3 | c.2774T>G (p.Val925Gly) c.2771T>G (p.Val924Gly) n.43T>G c.1712T>G (p.Val571Gly) c.2840T>G (p.Val947Gly) c.2897T>G (p.Val966Gly) c.2894T>G (p.Val965Gly) c.2831T>G (p.Val944Gly) c.2759T>G (p.Val920Gly) c.2699T>G (p.Val900Gly) c.2231T>G (p.Val744Gly) c.2174T>G (p.Val725Gly) c.2837T>G (p.Val946Gly) c.2828T>G (p.Val943Gly) c.2756T>G (p.Val919Gly) c.2633T>G (p.Val878Gly) c.2261T>G (p.Val754Gly) c.2051T>G (p.Val684Gly) c.2048T>G (p.Val683Gly) c.2332-691T>G (n.2332-691T>G) | |
2 | g.24823321A>G | CA346062974 | ADCY3 | c.2774T>C (p.Val925Ala) c.2771T>C (p.Val924Ala) n.43T>C c.1712T>C (p.Val571Ala) c.2840T>C (p.Val947Ala) c.2897T>C (p.Val966Ala) c.2894T>C (p.Val965Ala) c.2831T>C (p.Val944Ala) c.2759T>C (p.Val920Ala) c.2699T>C (p.Val900Ala) c.2231T>C (p.Val744Ala) c.2174T>C (p.Val725Ala) c.2837T>C (p.Val946Ala) c.2828T>C (p.Val943Ala) c.2756T>C (p.Val919Ala) c.2633T>C (p.Val878Ala) c.2261T>C (p.Val754Ala) c.2051T>C (p.Val684Ala) c.2048T>C (p.Val683Ala) c.2332-691T>C (n.2332-691T>C) | |
2 | g.24823321A>T | CA346062975 | ADCY3 | c.2774T>A (p.Val925Asp) c.2771T>A (p.Val924Asp) n.43T>A c.1712T>A (p.Val571Asp) c.2840T>A (p.Val947Asp) c.2897T>A (p.Val966Asp) c.2894T>A (p.Val965Asp) c.2831T>A (p.Val944Asp) c.2759T>A (p.Val920Asp) c.2699T>A (p.Val900Asp) c.2231T>A (p.Val744Asp) c.2174T>A (p.Val725Asp) c.2837T>A (p.Val946Asp) c.2828T>A (p.Val943Asp) c.2756T>A (p.Val919Asp) c.2633T>A (p.Val878Asp) c.2261T>A (p.Val754Asp) c.2051T>A (p.Val684Asp) c.2048T>A (p.Val683Asp) c.2332-691T>A (n.2332-691T>A) | |
2 | g.24823322C>A | CA346062976 | ADCY3 | c.2773G>T (p.Val925Phe) c.2770G>T (p.Val924Phe) n.42G>T c.1711G>T (p.Val571Phe) c.2839G>T (p.Val947Phe) c.2896G>T (p.Val966Phe) c.2893G>T (p.Val965Phe) c.2830G>T (p.Val944Phe) c.2758G>T (p.Val920Phe) c.2698G>T (p.Val900Phe) c.2230G>T (p.Val744Phe) c.2173G>T (p.Val725Phe) c.2836G>T (p.Val946Phe) c.2827G>T (p.Val943Phe) c.2755G>T (p.Val919Phe) c.2632G>T (p.Val878Phe) c.2260G>T (p.Val754Phe) c.2050G>T (p.Val684Phe) c.2047G>T (p.Val683Phe) c.2332-692G>T (n.2332-692G>T) | |
2 | g.24823322C= | CA1239072296 | ADCY3 | c.2773G= (p.Val925=) c.2770G= (p.Val924=) n.42G= c.1711G= (p.Val571=) c.2839G= (p.Val947=) c.2896G= (p.Val966=) c.2893G= (p.Val965=) c.2830G= (p.Val944=) c.2758G= (p.Val920=) c.2698G= (p.Val900=) c.2230G= (p.Val744=) c.2173G= (p.Val725=) c.2836G= (p.Val946=) c.2827G= (p.Val943=) c.2755G= (p.Val919=) c.2632G= (p.Val878=) c.2260G= (p.Val754=) c.2050G= (p.Val684=) c.2047G= (p.Val683=) c.2332-692G= (n.2332-692G=) | |
2 | g.24823322C>G | CA346062977 | ADCY3 | c.2773G>C (p.Val925Leu) c.2770G>C (p.Val924Leu) n.42G>C c.1711G>C (p.Val571Leu) c.2839G>C (p.Val947Leu) c.2896G>C (p.Val966Leu) c.2893G>C (p.Val965Leu) c.2830G>C (p.Val944Leu) c.2758G>C (p.Val920Leu) c.2698G>C (p.Val900Leu) c.2230G>C (p.Val744Leu) c.2173G>C (p.Val725Leu) c.2836G>C (p.Val946Leu) c.2827G>C (p.Val943Leu) c.2755G>C (p.Val919Leu) c.2632G>C (p.Val878Leu) c.2260G>C (p.Val754Leu) c.2050G>C (p.Val684Leu) c.2047G>C (p.Val683Leu) c.2332-692G>C (n.2332-692G>C) | dbSNP |
2 | g.24823322C>T | CA346062978 | ADCY3 | c.2773G>A (p.Val925Ile) c.2770G>A (p.Val924Ile) n.42G>A c.1711G>A (p.Val571Ile) c.2839G>A (p.Val947Ile) c.2896G>A (p.Val966Ile) c.2893G>A (p.Val965Ile) c.2830G>A (p.Val944Ile) c.2758G>A (p.Val920Ile) c.2698G>A (p.Val900Ile) c.2230G>A (p.Val744Ile) c.2173G>A (p.Val725Ile) c.2836G>A (p.Val946Ile) c.2827G>A (p.Val943Ile) c.2755G>A (p.Val919Ile) c.2632G>A (p.Val878Ile) c.2260G>A (p.Val754Ile) c.2050G>A (p.Val684Ile) c.2047G>A (p.Val683Ile) c.2332-692G>A (n.2332-692G>A) | |
2 | g.24823323T>A | CA425172015 | ADCY3 | c.2772A>T (p.Gly924=) c.2769A>T (p.Gly923=) n.41A>T c.1710A>T (p.Gly570=) c.2838A>T (p.Gly946=) c.2895A>T (p.Gly965=) c.2892A>T (p.Gly964=) c.2829A>T (p.Gly943=) c.2757A>T (p.Gly919=) c.2697A>T (p.Gly899=) c.2229A>T (p.Gly743=) c.2172A>T (p.Gly724=) c.2835A>T (p.Gly945=) c.2826A>T (p.Gly942=) c.2754A>T (p.Gly918=) c.2631A>T (p.Gly877=) c.2259A>T (p.Gly753=) c.2049A>T (p.Gly683=) c.2046A>T (p.Gly682=) c.2332-693A>T (n.2332-693A>T) | |
2 | g.24823323T>C | CA425172016 | ADCY3 | c.2772A>G (p.Gly924=) c.2769A>G (p.Gly923=) n.41A>G c.1710A>G (p.Gly570=) c.2838A>G (p.Gly946=) c.2895A>G (p.Gly965=) c.2892A>G (p.Gly964=) c.2829A>G (p.Gly943=) c.2757A>G (p.Gly919=) c.2697A>G (p.Gly899=) c.2229A>G (p.Gly743=) c.2172A>G (p.Gly724=) c.2835A>G (p.Gly945=) c.2826A>G (p.Gly942=) c.2754A>G (p.Gly918=) c.2631A>G (p.Gly877=) c.2259A>G (p.Gly753=) c.2049A>G (p.Gly683=) c.2046A>G (p.Gly682=) c.2332-693A>G (n.2332-693A>G) | |
2 | g.24823323T>G | CA425172017 | ADCY3 | c.2772A>C (p.Gly924=) c.2769A>C (p.Gly923=) n.41A>C c.1710A>C (p.Gly570=) c.2838A>C (p.Gly946=) c.2895A>C (p.Gly965=) c.2892A>C (p.Gly964=) c.2829A>C (p.Gly943=) c.2757A>C (p.Gly919=) c.2697A>C (p.Gly899=) c.2229A>C (p.Gly743=) c.2172A>C (p.Gly724=) c.2835A>C (p.Gly945=) c.2826A>C (p.Gly942=) c.2754A>C (p.Gly918=) c.2631A>C (p.Gly877=) c.2259A>C (p.Gly753=) c.2049A>C (p.Gly683=) c.2046A>C (p.Gly682=) c.2332-693A>C (n.2332-693A>C) | |
2 | g.24823323_24823324delinsTC | CA1239072297 | ADCY3 | c.2771_2772delinsGA (p.Gly924=) c.2768_2769delinsGA (p.Gly923=) n.40_41delinsGA c.1709_1710delinsGA (p.Gly570=) c.2837_2838delinsGA (p.Gly946=) c.2894_2895delinsGA (p.Gly965=) c.2891_2892delinsGA (p.Gly964=) c.2828_2829delinsGA (p.Gly943=) c.2756_2757delinsGA (p.Gly919=) c.2696_2697delinsGA (p.Gly899=) c.2228_2229delinsGA (p.Gly743=) c.2171_2172delinsGA (p.Gly724=) c.2834_2835delinsGA (p.Gly945=) c.2825_2826delinsGA (p.Gly942=) c.2753_2754delinsGA (p.Gly918=) c.2630_2631delinsGA (p.Gly877=) c.2258_2259delinsGA (p.Gly753=) c.2048_2049delinsGA (p.Gly683=) c.2045_2046delinsGA (p.Gly682=) c.2332-694_2332-693delinsGA (n.2332-694_2332-693delinsGA) | |
2 | g.24823324C>A | CA346062983 | ADCY3 | c.2771G>T (p.Gly924Val) c.2768G>T (p.Gly923Val) n.40G>T c.1709G>T (p.Gly570Val) c.2837G>T (p.Gly946Val) c.2894G>T (p.Gly965Val) c.2891G>T (p.Gly964Val) c.2828G>T (p.Gly943Val) c.2756G>T (p.Gly919Val) c.2696G>T (p.Gly899Val) c.2228G>T (p.Gly743Val) c.2171G>T (p.Gly724Val) c.2834G>T (p.Gly945Val) c.2825G>T (p.Gly942Val) c.2753G>T (p.Gly918Val) c.2630G>T (p.Gly877Val) c.2258G>T (p.Gly753Val) c.2048G>T (p.Gly683Val) c.2045G>T (p.Gly682Val) c.2332-694G>T (n.2332-694G>T) | |
2 | g.24823324C>G | CA346062980 | ADCY3 | c.2771G>C (p.Gly924Ala) c.2768G>C (p.Gly923Ala) n.40G>C c.1709G>C (p.Gly570Ala) c.2837G>C (p.Gly946Ala) c.2894G>C (p.Gly965Ala) c.2891G>C (p.Gly964Ala) c.2828G>C (p.Gly943Ala) c.2756G>C (p.Gly919Ala) c.2696G>C (p.Gly899Ala) c.2228G>C (p.Gly743Ala) c.2171G>C (p.Gly724Ala) c.2834G>C (p.Gly945Ala) c.2825G>C (p.Gly942Ala) c.2753G>C (p.Gly918Ala) c.2630G>C (p.Gly877Ala) c.2258G>C (p.Gly753Ala) c.2048G>C (p.Gly683Ala) c.2045G>C (p.Gly682Ala) c.2332-694G>C (n.2332-694G>C) | gnomAD v4 |
2 | g.24823324C>T | CA346062982 | ADCY3 | c.2771G>A (p.Gly924Glu) c.2768G>A (p.Gly923Glu) n.40G>A c.1709G>A (p.Gly570Glu) c.2837G>A (p.Gly946Glu) c.2894G>A (p.Gly965Glu) c.2891G>A (p.Gly964Glu) c.2828G>A (p.Gly943Glu) c.2756G>A (p.Gly919Glu) c.2696G>A (p.Gly899Glu) c.2228G>A (p.Gly743Glu) c.2171G>A (p.Gly724Glu) c.2834G>A (p.Gly945Glu) c.2825G>A (p.Gly942Glu) c.2753G>A (p.Gly918Glu) c.2630G>A (p.Gly877Glu) c.2258G>A (p.Gly753Glu) c.2048G>A (p.Gly683Glu) c.2045G>A (p.Gly682Glu) c.2332-694G>A (n.2332-694G>A) | |
2 | g.24823325del | CA1553613 | ADCY3 | c.2771del (p.Gly924GlufsTer?) c.2768del (p.Gly923GlufsTer?) n.40del c.1709del (p.Gly570GlufsTer?) c.2837del (p.Gly946GlufsTer?) c.2894del (p.Gly965GlufsTer?) c.2891del (p.Gly964GlufsTer?) c.2828del (p.Gly943GlufsTer?) c.2756del (p.Gly919GlufsTer?) c.2696del (p.Gly899GlufsTer?) c.2228del (p.Gly743GlufsTer?) c.2171del (p.Gly724GlufsTer?) c.2834del (p.Gly945GlufsTer?) c.2825del (p.Gly942GlufsTer?) c.2753del (p.Gly918GlufsTer?) c.2630del (p.Gly877GlufsTer?) c.2258del (p.Gly753GlufsTer?) c.2048del (p.Gly683GlufsTer?) c.2045del (p.Gly682GlufsTer?) c.2332-694del (n.2332-694del) | dbSNP ExAC gnomAD v2 |
2 | g.24823325C>A | CA346062984 | ADCY3 | c.2770G>T (p.Gly924Ter) c.2767G>T (p.Gly923Ter) n.39G>T c.1708G>T (p.Gly570Ter) c.2836G>T (p.Gly946Ter) c.2893G>T (p.Gly965Ter) c.2890G>T (p.Gly964Ter) c.2827G>T (p.Gly943Ter) c.2755G>T (p.Gly919Ter) c.2695G>T (p.Gly899Ter) c.2227G>T (p.Gly743Ter) c.2170G>T (p.Gly724Ter) c.2833G>T (p.Gly945Ter) c.2824G>T (p.Gly942Ter) c.2752G>T (p.Gly918Ter) c.2629G>T (p.Gly877Ter) c.2257G>T (p.Gly753Ter) c.2047G>T (p.Gly683Ter) c.2044G>T (p.Gly682Ter) c.2332-695G>T (n.2332-695G>T) | |
2 | g.24823325C= | CA1239072298 | ADCY3 | c.2770G= (p.Gly924=) c.2767G= (p.Gly923=) n.39G= c.1708G= (p.Gly570=) c.2836G= (p.Gly946=) c.2893G= (p.Gly965=) c.2890G= (p.Gly964=) c.2827G= (p.Gly943=) c.2755G= (p.Gly919=) c.2695G= (p.Gly899=) c.2227G= (p.Gly743=) c.2170G= (p.Gly724=) c.2833G= (p.Gly945=) c.2824G= (p.Gly942=) c.2752G= (p.Gly918=) c.2629G= (p.Gly877=) c.2257G= (p.Gly753=) c.2047G= (p.Gly683=) c.2044G= (p.Gly682=) c.2332-695G= (n.2332-695G=) | |
2 | g.24823325C>G | CA346062985 | ADCY3 | c.2770G>C (p.Gly924Arg) c.2767G>C (p.Gly923Arg) n.39G>C c.1708G>C (p.Gly570Arg) c.2836G>C (p.Gly946Arg) c.2893G>C (p.Gly965Arg) c.2890G>C (p.Gly964Arg) c.2827G>C (p.Gly943Arg) c.2755G>C (p.Gly919Arg) c.2695G>C (p.Gly899Arg) c.2227G>C (p.Gly743Arg) c.2170G>C (p.Gly724Arg) c.2833G>C (p.Gly945Arg) c.2824G>C (p.Gly942Arg) c.2752G>C (p.Gly918Arg) c.2629G>C (p.Gly877Arg) c.2257G>C (p.Gly753Arg) c.2047G>C (p.Gly683Arg) c.2044G>C (p.Gly682Arg) c.2332-695G>C (n.2332-695G>C) | |
2 | g.24823325C>T | CA43682465 | ADCY3 | c.2770G>A (p.Gly924Arg) c.2767G>A (p.Gly923Arg) n.39G>A c.1708G>A (p.Gly570Arg) c.2836G>A (p.Gly946Arg) c.2893G>A (p.Gly965Arg) c.2890G>A (p.Gly964Arg) c.2827G>A (p.Gly943Arg) c.2755G>A (p.Gly919Arg) c.2695G>A (p.Gly899Arg) c.2227G>A (p.Gly743Arg) c.2170G>A (p.Gly724Arg) c.2833G>A (p.Gly945Arg) c.2824G>A (p.Gly942Arg) c.2752G>A (p.Gly918Arg) c.2629G>A (p.Gly877Arg) c.2257G>A (p.Gly753Arg) c.2047G>A (p.Gly683Arg) c.2044G>A (p.Gly682Arg) c.2332-695G>A (n.2332-695G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.24823326A= | CA1239072299 | ADCY3 | c.2769T= (p.Ile923=) c.2766T= (p.Ile922=) n.38T= c.1707T= (p.Ile569=) c.2835T= (p.Ile945=) c.2892T= (p.Ile964=) c.2889T= (p.Ile963=) c.2826T= (p.Ile942=) c.2754T= (p.Ile918=) c.2694T= (p.Ile898=) c.2226T= (p.Ile742=) c.2169T= (p.Ile723=) c.2832T= (p.Ile944=) c.2823T= (p.Ile941=) c.2751T= (p.Ile917=) c.2628T= (p.Ile876=) c.2256T= (p.Ile752=) c.2046T= (p.Ile682=) c.2043T= (p.Ile681=) c.2332-696T= (n.2332-696T=) | |
2 | g.24823326A>C | CA346062986 | ADCY3 | c.2769T>G (p.Ile923Met) c.2766T>G (p.Ile922Met) n.38T>G c.1707T>G (p.Ile569Met) c.2835T>G (p.Ile945Met) c.2892T>G (p.Ile964Met) c.2889T>G (p.Ile963Met) c.2826T>G (p.Ile942Met) c.2754T>G (p.Ile918Met) c.2694T>G (p.Ile898Met) c.2226T>G (p.Ile742Met) c.2169T>G (p.Ile723Met) c.2832T>G (p.Ile944Met) c.2823T>G (p.Ile941Met) c.2751T>G (p.Ile917Met) c.2628T>G (p.Ile876Met) c.2256T>G (p.Ile752Met) c.2046T>G (p.Ile682Met) c.2043T>G (p.Ile681Met) c.2332-696T>G (n.2332-696T>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.24823326A>G | CA425172019 | ADCY3 | c.2769T>C (p.Ile923=) c.2766T>C (p.Ile922=) n.38T>C c.1707T>C (p.Ile569=) c.2835T>C (p.Ile945=) c.2892T>C (p.Ile964=) c.2889T>C (p.Ile963=) c.2826T>C (p.Ile942=) c.2754T>C (p.Ile918=) c.2694T>C (p.Ile898=) c.2226T>C (p.Ile742=) c.2169T>C (p.Ile723=) c.2832T>C (p.Ile944=) c.2823T>C (p.Ile941=) c.2751T>C (p.Ile917=) c.2628T>C (p.Ile876=) c.2256T>C (p.Ile752=) c.2046T>C (p.Ile682=) c.2043T>C (p.Ile681=) c.2332-696T>C (n.2332-696T>C) | |
2 | g.24823326A>T | CA425172018 | ADCY3 | c.2769T>A (p.Ile923=) c.2766T>A (p.Ile922=) n.38T>A c.1707T>A (p.Ile569=) c.2835T>A (p.Ile945=) c.2892T>A (p.Ile964=) c.2889T>A (p.Ile963=) c.2826T>A (p.Ile942=) c.2754T>A (p.Ile918=) c.2694T>A (p.Ile898=) c.2226T>A (p.Ile742=) c.2169T>A (p.Ile723=) c.2832T>A (p.Ile944=) c.2823T>A (p.Ile941=) c.2751T>A (p.Ile917=) c.2628T>A (p.Ile876=) c.2256T>A (p.Ile752=) c.2046T>A (p.Ile682=) c.2043T>A (p.Ile681=) c.2332-696T>A (n.2332-696T>A) | |
2 | g.24823327A= | CA1239072300 | ADCY3 | c.2768T= (p.Ile923=) c.2765T= (p.Ile922=) n.37T= c.1706T= (p.Ile569=) c.2834T= (p.Ile945=) c.2891T= (p.Ile964=) c.2888T= (p.Ile963=) c.2825T= (p.Ile942=) c.2753T= (p.Ile918=) c.2693T= (p.Ile898=) c.2225T= (p.Ile742=) c.2168T= (p.Ile723=) c.2831T= (p.Ile944=) c.2822T= (p.Ile941=) c.2750T= (p.Ile917=) c.2627T= (p.Ile876=) c.2255T= (p.Ile752=) c.2045T= (p.Ile682=) c.2042T= (p.Ile681=) c.2332-697T= (n.2332-697T=) | |
2 | g.24823327A>C | CA346062987 | ADCY3 | c.2768T>G (p.Ile923Ser) c.2765T>G (p.Ile922Ser) n.37T>G c.1706T>G (p.Ile569Ser) c.2834T>G (p.Ile945Ser) c.2891T>G (p.Ile964Ser) c.2888T>G (p.Ile963Ser) c.2825T>G (p.Ile942Ser) c.2753T>G (p.Ile918Ser) c.2693T>G (p.Ile898Ser) c.2225T>G (p.Ile742Ser) c.2168T>G (p.Ile723Ser) c.2831T>G (p.Ile944Ser) c.2822T>G (p.Ile941Ser) c.2750T>G (p.Ile917Ser) c.2627T>G (p.Ile876Ser) c.2255T>G (p.Ile752Ser) c.2045T>G (p.Ile682Ser) c.2042T>G (p.Ile681Ser) c.2332-697T>G (n.2332-697T>G) | |
2 | g.24823327A>G | CA346062988 | ADCY3 | c.2768T>C (p.Ile923Thr) c.2765T>C (p.Ile922Thr) n.37T>C c.1706T>C (p.Ile569Thr) c.2834T>C (p.Ile945Thr) c.2891T>C (p.Ile964Thr) c.2888T>C (p.Ile963Thr) c.2825T>C (p.Ile942Thr) c.2753T>C (p.Ile918Thr) c.2693T>C (p.Ile898Thr) c.2225T>C (p.Ile742Thr) c.2168T>C (p.Ile723Thr) c.2831T>C (p.Ile944Thr) c.2822T>C (p.Ile941Thr) c.2750T>C (p.Ile917Thr) c.2627T>C (p.Ile876Thr) c.2255T>C (p.Ile752Thr) c.2045T>C (p.Ile682Thr) c.2042T>C (p.Ile681Thr) c.2332-697T>C (n.2332-697T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.24823327A>T | CA346062989 | ADCY3 | c.2768T>A (p.Ile923Asn) c.2765T>A (p.Ile922Asn) n.37T>A c.1706T>A (p.Ile569Asn) c.2834T>A (p.Ile945Asn) c.2891T>A (p.Ile964Asn) c.2888T>A (p.Ile963Asn) c.2825T>A (p.Ile942Asn) c.2753T>A (p.Ile918Asn) c.2693T>A (p.Ile898Asn) c.2225T>A (p.Ile742Asn) c.2168T>A (p.Ile723Asn) c.2831T>A (p.Ile944Asn) c.2822T>A (p.Ile941Asn) c.2750T>A (p.Ile917Asn) c.2627T>A (p.Ile876Asn) c.2255T>A (p.Ile752Asn) c.2045T>A (p.Ile682Asn) c.2042T>A (p.Ile681Asn) c.2332-697T>A (n.2332-697T>A) | |
2 | g.24823328T>A | CA346062992 | ADCY3 | c.2767A>T (p.Ile923Phe) c.2764A>T (p.Ile922Phe) n.36A>T c.1705A>T (p.Ile569Phe) c.2833A>T (p.Ile945Phe) c.2890A>T (p.Ile964Phe) c.2887A>T (p.Ile963Phe) c.2824A>T (p.Ile942Phe) c.2752A>T (p.Ile918Phe) c.2692A>T (p.Ile898Phe) c.2224A>T (p.Ile742Phe) c.2167A>T (p.Ile723Phe) c.2830A>T (p.Ile944Phe) c.2821A>T (p.Ile941Phe) c.2749A>T (p.Ile917Phe) c.2626A>T (p.Ile876Phe) c.2254A>T (p.Ile752Phe) c.2044A>T (p.Ile682Phe) c.2041A>T (p.Ile681Phe) c.2332-698A>T (n.2332-698A>T) | |
2 | g.24823328T>C | CA346062994 | ADCY3 | c.2767A>G (p.Ile923Val) c.2764A>G (p.Ile922Val) n.36A>G c.1705A>G (p.Ile569Val) c.2833A>G (p.Ile945Val) c.2890A>G (p.Ile964Val) c.2887A>G (p.Ile963Val) c.2824A>G (p.Ile942Val) c.2752A>G (p.Ile918Val) c.2692A>G (p.Ile898Val) c.2224A>G (p.Ile742Val) c.2167A>G (p.Ile723Val) c.2830A>G (p.Ile944Val) c.2821A>G (p.Ile941Val) c.2749A>G (p.Ile917Val) c.2626A>G (p.Ile876Val) c.2254A>G (p.Ile752Val) c.2044A>G (p.Ile682Val) c.2041A>G (p.Ile681Val) c.2332-698A>G (n.2332-698A>G) | |
2 | g.24823328T>G | CA346062997 | ADCY3 | c.2767A>C (p.Ile923Leu) c.2764A>C (p.Ile922Leu) n.36A>C c.1705A>C (p.Ile569Leu) c.2833A>C (p.Ile945Leu) c.2890A>C (p.Ile964Leu) c.2887A>C (p.Ile963Leu) c.2824A>C (p.Ile942Leu) c.2752A>C (p.Ile918Leu) c.2692A>C (p.Ile898Leu) c.2224A>C (p.Ile742Leu) c.2167A>C (p.Ile723Leu) c.2830A>C (p.Ile944Leu) c.2821A>C (p.Ile941Leu) c.2749A>C (p.Ile917Leu) c.2626A>C (p.Ile876Leu) c.2254A>C (p.Ile752Leu) c.2044A>C (p.Ile682Leu) c.2041A>C (p.Ile681Leu) c.2332-698A>C (n.2332-698A>C) | |
2 | g.24823329C>A | CA346063000 | ADCY3 | c.2766G>T (p.Glu922Asp) c.2763G>T (p.Glu921Asp) n.35G>T c.1704G>T (p.Glu568Asp) c.2832G>T (p.Glu944Asp) c.2889G>T (p.Glu963Asp) c.2886G>T (p.Glu962Asp) c.2823G>T (p.Glu941Asp) c.2751G>T (p.Glu917Asp) c.2691G>T (p.Glu897Asp) c.2223G>T (p.Glu741Asp) c.2166G>T (p.Glu722Asp) c.2829G>T (p.Glu943Asp) c.2820G>T (p.Glu940Asp) c.2748G>T (p.Glu916Asp) c.2625G>T (p.Glu875Asp) c.2253G>T (p.Glu751Asp) c.2043G>T (p.Glu681Asp) c.2040G>T (p.Glu680Asp) c.2332-699G>T (n.2332-699G>T) | |
2 | g.24823329C= | CA1239072301 | ADCY3 | c.2766G= (p.Glu922=) c.2763G= (p.Glu921=) n.35G= c.1704G= (p.Glu568=) c.2832G= (p.Glu944=) c.2889G= (p.Glu963=) c.2886G= (p.Glu962=) c.2823G= (p.Glu941=) c.2751G= (p.Glu917=) c.2691G= (p.Glu897=) c.2223G= (p.Glu741=) c.2166G= (p.Glu722=) c.2829G= (p.Glu943=) c.2820G= (p.Glu940=) c.2748G= (p.Glu916=) c.2625G= (p.Glu875=) c.2253G= (p.Glu751=) c.2043G= (p.Glu681=) c.2040G= (p.Glu680=) c.2332-699G= (n.2332-699G=) | |
2 | g.24823329C>G | CA346063002 | ADCY3 | c.2766G>C (p.Glu922Asp) c.2763G>C (p.Glu921Asp) n.35G>C c.1704G>C (p.Glu568Asp) c.2832G>C (p.Glu944Asp) c.2889G>C (p.Glu963Asp) c.2886G>C (p.Glu962Asp) c.2823G>C (p.Glu941Asp) c.2751G>C (p.Glu917Asp) c.2691G>C (p.Glu897Asp) c.2223G>C (p.Glu741Asp) c.2166G>C (p.Glu722Asp) c.2829G>C (p.Glu943Asp) c.2820G>C (p.Glu940Asp) c.2748G>C (p.Glu916Asp) c.2625G>C (p.Glu875Asp) c.2253G>C (p.Glu751Asp) c.2043G>C (p.Glu681Asp) c.2040G>C (p.Glu680Asp) c.2332-699G>C (n.2332-699G>C) | gnomAD v4 |
2 | g.24823329C>T | CA425172020 | ADCY3 | c.2766G>A (p.Glu922=) c.2763G>A (p.Glu921=) n.35G>A c.1704G>A (p.Glu568=) c.2832G>A (p.Glu944=) c.2889G>A (p.Glu963=) c.2886G>A (p.Glu962=) c.2823G>A (p.Glu941=) c.2751G>A (p.Glu917=) c.2691G>A (p.Glu897=) c.2223G>A (p.Glu741=) c.2166G>A (p.Glu722=) c.2829G>A (p.Glu943=) c.2820G>A (p.Glu940=) c.2748G>A (p.Glu916=) c.2625G>A (p.Glu875=) c.2253G>A (p.Glu751=) c.2043G>A (p.Glu681=) c.2040G>A (p.Glu680=) c.2332-699G>A (n.2332-699G>A) | dbSNP |
2 | g.24823329_24823332delinsCTCA | CA1239072302 | ADCY3 | c.2763_2766delinsTGAG (p.Asp921=) c.2760_2763delinsTGAG (p.Asp920=) n.32_35delinsTGAG c.1701_1704delinsTGAG (p.Asp567=) c.2829_2832delinsTGAG (p.Asp943=) c.2886_2889delinsTGAG (p.Asp962=) c.2883_2886delinsTGAG (p.Asp961=) c.2820_2823delinsTGAG (p.Asp940=) c.2748_2751delinsTGAG (p.Asp916=) c.2688_2691delinsTGAG (p.Asp896=) c.2220_2223delinsTGAG (p.Asp740=) c.2163_2166delinsTGAG (p.Asp721=) c.2826_2829delinsTGAG (p.Asp942=) c.2817_2820delinsTGAG (p.Asp939=) c.2745_2748delinsTGAG (p.Asp915=) c.2622_2625delinsTGAG (p.Asp874=) c.2250_2253delinsTGAG (p.Asp750=) c.2040_2043delinsTGAG (p.Asp680=) c.2037_2040delinsTGAG (p.Asp679=) c.2332-702_2332-699delinsTGAG (n.2332-702_2332-699delinsTGAG) | |
2 | g.24823330T>A | CA346063007 | ADCY3 | c.2765A>T (p.Glu922Val) c.2762A>T (p.Glu921Val) n.34A>T c.1703A>T (p.Glu568Val) c.2831A>T (p.Glu944Val) c.2888A>T (p.Glu963Val) c.2885A>T (p.Glu962Val) c.2822A>T (p.Glu941Val) c.2750A>T (p.Glu917Val) c.2690A>T (p.Glu897Val) c.2222A>T (p.Glu741Val) c.2165A>T (p.Glu722Val) c.2828A>T (p.Glu943Val) c.2819A>T (p.Glu940Val) c.2747A>T (p.Glu916Val) c.2624A>T (p.Glu875Val) c.2252A>T (p.Glu751Val) c.2042A>T (p.Glu681Val) c.2039A>T (p.Glu680Val) c.2332-700A>T (n.2332-700A>T) | |
2 | g.24823330T>C | CA346063011 | ADCY3 | c.2765A>G (p.Glu922Gly) c.2762A>G (p.Glu921Gly) n.34A>G c.1703A>G (p.Glu568Gly) c.2831A>G (p.Glu944Gly) c.2888A>G (p.Glu963Gly) c.2885A>G (p.Glu962Gly) c.2822A>G (p.Glu941Gly) c.2750A>G (p.Glu917Gly) c.2690A>G (p.Glu897Gly) c.2222A>G (p.Glu741Gly) c.2165A>G (p.Glu722Gly) c.2828A>G (p.Glu943Gly) c.2819A>G (p.Glu940Gly) c.2747A>G (p.Glu916Gly) c.2624A>G (p.Glu875Gly) c.2252A>G (p.Glu751Gly) c.2042A>G (p.Glu681Gly) c.2039A>G (p.Glu680Gly) c.2332-700A>G (n.2332-700A>G) | |
2 | g.24823330T>G | CA346063005 | ADCY3 | c.2765A>C (p.Glu922Ala) c.2762A>C (p.Glu921Ala) n.34A>C c.1703A>C (p.Glu568Ala) c.2831A>C (p.Glu944Ala) c.2888A>C (p.Glu963Ala) c.2885A>C (p.Glu962Ala) c.2822A>C (p.Glu941Ala) c.2750A>C (p.Glu917Ala) c.2690A>C (p.Glu897Ala) c.2222A>C (p.Glu741Ala) c.2165A>C (p.Glu722Ala) c.2828A>C (p.Glu943Ala) c.2819A>C (p.Glu940Ala) c.2747A>C (p.Glu916Ala) c.2624A>C (p.Glu875Ala) c.2252A>C (p.Glu751Ala) c.2042A>C (p.Glu681Ala) c.2039A>C (p.Glu680Ala) c.2332-700A>C (n.2332-700A>C) | |
2 | g.24823334_24823336del | CA1028473432 | ADCY3 | c.2763_2765del (p.Asp921del) c.2760_2762del (p.Asp920del) n.32_34del c.1701_1703del (p.Asp567del) c.2829_2831del (p.Asp943del) c.2886_2888del (p.Asp962del) c.2883_2885del (p.Asp961del) c.2820_2822del (p.Asp940del) c.2748_2750del (p.Asp916del) c.2688_2690del (p.Asp896del) c.2220_2222del (p.Asp740del) c.2163_2165del (p.Asp721del) c.2826_2828del (p.Asp942del) c.2817_2819del (p.Asp939del) c.2745_2747del (p.Asp915del) c.2622_2624del (p.Asp874del) c.2250_2252del (p.Asp750del) c.2040_2042del (p.Asp680del) c.2037_2039del (p.Asp679del) c.2332-702_2332-700del (n.2332-702_2332-700del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.24823331C>A | CA346063015 | ADCY3 | c.2764G>T (p.Glu922Ter) c.2761G>T (p.Glu921Ter) n.33G>T c.1702G>T (p.Glu568Ter) c.2830G>T (p.Glu944Ter) c.2887G>T (p.Glu963Ter) c.2884G>T (p.Glu962Ter) c.2821G>T (p.Glu941Ter) c.2749G>T (p.Glu917Ter) c.2689G>T (p.Glu897Ter) c.2221G>T (p.Glu741Ter) c.2164G>T (p.Glu722Ter) c.2827G>T (p.Glu943Ter) c.2818G>T (p.Glu940Ter) c.2746G>T (p.Glu916Ter) c.2623G>T (p.Glu875Ter) c.2251G>T (p.Glu751Ter) c.2041G>T (p.Glu681Ter) c.2038G>T (p.Glu680Ter) c.2332-701G>T (n.2332-701G>T) | |
2 | g.24823331C>G | CA346063013 | ADCY3 | c.2764G>C (p.Glu922Gln) c.2761G>C (p.Glu921Gln) n.33G>C c.1702G>C (p.Glu568Gln) c.2830G>C (p.Glu944Gln) c.2887G>C (p.Glu963Gln) c.2884G>C (p.Glu962Gln) c.2821G>C (p.Glu941Gln) c.2749G>C (p.Glu917Gln) c.2689G>C (p.Glu897Gln) c.2221G>C (p.Glu741Gln) c.2164G>C (p.Glu722Gln) c.2827G>C (p.Glu943Gln) c.2818G>C (p.Glu940Gln) c.2746G>C (p.Glu916Gln) c.2623G>C (p.Glu875Gln) c.2251G>C (p.Glu751Gln) c.2041G>C (p.Glu681Gln) c.2038G>C (p.Glu680Gln) c.2332-701G>C (n.2332-701G>C) | |
2 | g.24823331C>T | CA346063014 | ADCY3 | c.2764G>A (p.Glu922Lys) c.2761G>A (p.Glu921Lys) n.33G>A c.1702G>A (p.Glu568Lys) c.2830G>A (p.Glu944Lys) c.2887G>A (p.Glu963Lys) c.2884G>A (p.Glu962Lys) c.2821G>A (p.Glu941Lys) c.2749G>A (p.Glu917Lys) c.2689G>A (p.Glu897Lys) c.2221G>A (p.Glu741Lys) c.2164G>A (p.Glu722Lys) c.2827G>A (p.Glu943Lys) c.2818G>A (p.Glu940Lys) c.2746G>A (p.Glu916Lys) c.2623G>A (p.Glu875Lys) c.2251G>A (p.Glu751Lys) c.2041G>A (p.Glu681Lys) c.2038G>A (p.Glu680Lys) c.2332-701G>A (n.2332-701G>A) | |
2 | g.24823332A>C | CA346063016 | ADCY3 | c.2763T>G (p.Asp921Glu) c.2760T>G (p.Asp920Glu) n.32T>G c.1701T>G (p.Asp567Glu) c.2829T>G (p.Asp943Glu) c.2886T>G (p.Asp962Glu) c.2883T>G (p.Asp961Glu) c.2820T>G (p.Asp940Glu) c.2748T>G (p.Asp916Glu) c.2688T>G (p.Asp896Glu) c.2220T>G (p.Asp740Glu) c.2163T>G (p.Asp721Glu) c.2826T>G (p.Asp942Glu) c.2817T>G (p.Asp939Glu) c.2745T>G (p.Asp915Glu) c.2622T>G (p.Asp874Glu) c.2250T>G (p.Asp750Glu) c.2040T>G (p.Asp680Glu) c.2037T>G (p.Asp679Glu) c.2332-702T>G (n.2332-702T>G) | gnomAD v4 |
2 | g.24823332A>G | CA425172021 | ADCY3 | c.2763T>C (p.Asp921=) c.2760T>C (p.Asp920=) n.32T>C c.1701T>C (p.Asp567=) c.2829T>C (p.Asp943=) c.2886T>C (p.Asp962=) c.2883T>C (p.Asp961=) c.2820T>C (p.Asp940=) c.2748T>C (p.Asp916=) c.2688T>C (p.Asp896=) c.2220T>C (p.Asp740=) c.2163T>C (p.Asp721=) c.2826T>C (p.Asp942=) c.2817T>C (p.Asp939=) c.2745T>C (p.Asp915=) c.2622T>C (p.Asp874=) c.2250T>C (p.Asp750=) c.2040T>C (p.Asp680=) c.2037T>C (p.Asp679=) c.2332-702T>C (n.2332-702T>C) | gnomAD v4 |
2 | g.24823332A>T | CA346063017 | ADCY3 | c.2763T>A (p.Asp921Glu) c.2760T>A (p.Asp920Glu) n.32T>A c.1701T>A (p.Asp567Glu) c.2829T>A (p.Asp943Glu) c.2886T>A (p.Asp962Glu) c.2883T>A (p.Asp961Glu) c.2820T>A (p.Asp940Glu) c.2748T>A (p.Asp916Glu) c.2688T>A (p.Asp896Glu) c.2220T>A (p.Asp740Glu) c.2163T>A (p.Asp721Glu) c.2826T>A (p.Asp942Glu) c.2817T>A (p.Asp939Glu) c.2745T>A (p.Asp915Glu) c.2622T>A (p.Asp874Glu) c.2250T>A (p.Asp750Glu) c.2040T>A (p.Asp680Glu) c.2037T>A (p.Asp679Glu) c.2332-702T>A (n.2332-702T>A) | |
2 | g.24823333T>A | CA346063018 | ADCY3 | c.2762A>T (p.Asp921Val) c.2759A>T (p.Asp920Val) n.31A>T c.1700A>T (p.Asp567Val) c.2828A>T (p.Asp943Val) c.2885A>T (p.Asp962Val) c.2882A>T (p.Asp961Val) c.2819A>T (p.Asp940Val) c.2747A>T (p.Asp916Val) c.2687A>T (p.Asp896Val) c.2219A>T (p.Asp740Val) c.2162A>T (p.Asp721Val) c.2825A>T (p.Asp942Val) c.2816A>T (p.Asp939Val) c.2744A>T (p.Asp915Val) c.2621A>T (p.Asp874Val) c.2249A>T (p.Asp750Val) c.2039A>T (p.Asp680Val) c.2036A>T (p.Asp679Val) c.2332-703A>T (n.2332-703A>T) | |
2 | g.24823333T>C | CA346063019 | ADCY3 | c.2762A>G (p.Asp921Gly) c.2759A>G (p.Asp920Gly) n.31A>G c.1700A>G (p.Asp567Gly) c.2828A>G (p.Asp943Gly) c.2885A>G (p.Asp962Gly) c.2882A>G (p.Asp961Gly) c.2819A>G (p.Asp940Gly) c.2747A>G (p.Asp916Gly) c.2687A>G (p.Asp896Gly) c.2219A>G (p.Asp740Gly) c.2162A>G (p.Asp721Gly) c.2825A>G (p.Asp942Gly) c.2816A>G (p.Asp939Gly) c.2744A>G (p.Asp915Gly) c.2621A>G (p.Asp874Gly) c.2249A>G (p.Asp750Gly) c.2039A>G (p.Asp680Gly) c.2036A>G (p.Asp679Gly) c.2332-703A>G (n.2332-703A>G) | |
2 | g.24823333T>G | CA346063021 | ADCY3 | c.2762A>C (p.Asp921Ala) c.2759A>C (p.Asp920Ala) n.31A>C c.1700A>C (p.Asp567Ala) c.2828A>C (p.Asp943Ala) c.2885A>C (p.Asp962Ala) c.2882A>C (p.Asp961Ala) c.2819A>C (p.Asp940Ala) c.2747A>C (p.Asp916Ala) c.2687A>C (p.Asp896Ala) c.2219A>C (p.Asp740Ala) c.2162A>C (p.Asp721Ala) c.2825A>C (p.Asp942Ala) c.2816A>C (p.Asp939Ala) c.2744A>C (p.Asp915Ala) c.2621A>C (p.Asp874Ala) c.2249A>C (p.Asp750Ala) c.2039A>C (p.Asp680Ala) c.2036A>C (p.Asp679Ala) c.2332-703A>C (n.2332-703A>C) | |
2 | g.24823334C>A | CA346063023 | ADCY3 | c.2761G>T (p.Asp921Tyr) c.2758G>T (p.Asp920Tyr) n.30G>T c.1699G>T (p.Asp567Tyr) c.2827G>T (p.Asp943Tyr) c.2884G>T (p.Asp962Tyr) c.2881G>T (p.Asp961Tyr) c.2818G>T (p.Asp940Tyr) c.2746G>T (p.Asp916Tyr) c.2686G>T (p.Asp896Tyr) c.2218G>T (p.Asp740Tyr) c.2161G>T (p.Asp721Tyr) c.2824G>T (p.Asp942Tyr) c.2815G>T (p.Asp939Tyr) c.2743G>T (p.Asp915Tyr) c.2620G>T (p.Asp874Tyr) c.2248G>T (p.Asp750Tyr) c.2038G>T (p.Asp680Tyr) c.2035G>T (p.Asp679Tyr) c.2332-704G>T (n.2332-704G>T) | |
2 | g.24823334C>G | CA346063025 | ADCY3 | c.2761G>C (p.Asp921His) c.2758G>C (p.Asp920His) n.30G>C c.1699G>C (p.Asp567His) c.2827G>C (p.Asp943His) c.2884G>C (p.Asp962His) c.2881G>C (p.Asp961His) c.2818G>C (p.Asp940His) c.2746G>C (p.Asp916His) c.2686G>C (p.Asp896His) c.2218G>C (p.Asp740His) c.2161G>C (p.Asp721His) c.2824G>C (p.Asp942His) c.2815G>C (p.Asp939His) c.2743G>C (p.Asp915His) c.2620G>C (p.Asp874His) c.2248G>C (p.Asp750His) c.2038G>C (p.Asp680His) c.2035G>C (p.Asp679His) c.2332-704G>C (n.2332-704G>C) | |
2 | g.24823334C>T | CA346063026 | ADCY3 | c.2761G>A (p.Asp921Asn) c.2758G>A (p.Asp920Asn) n.30G>A c.1699G>A (p.Asp567Asn) c.2827G>A (p.Asp943Asn) c.2884G>A (p.Asp962Asn) c.2881G>A (p.Asp961Asn) c.2818G>A (p.Asp940Asn) c.2746G>A (p.Asp916Asn) c.2686G>A (p.Asp896Asn) c.2218G>A (p.Asp740Asn) c.2161G>A (p.Asp721Asn) c.2824G>A (p.Asp942Asn) c.2815G>A (p.Asp939Asn) c.2743G>A (p.Asp915Asn) c.2620G>A (p.Asp874Asn) c.2248G>A (p.Asp750Asn) c.2038G>A (p.Asp680Asn) c.2035G>A (p.Asp679Asn) c.2332-704G>A (n.2332-704G>A) | |
2 | g.24823335A= | CA1239072303 | ADCY3 | c.2760T= (p.Tyr920=) c.2757T= (p.Tyr919=) n.29T= c.1698T= (p.Tyr566=) c.2826T= (p.Tyr942=) c.2883T= (p.Tyr961=) c.2880T= (p.Tyr960=) c.2817T= (p.Tyr939=) c.2745T= (p.Tyr915=) c.2685T= (p.Tyr895=) c.2217T= (p.Tyr739=) c.2160T= (p.Tyr720=) c.2823T= (p.Tyr941=) c.2814T= (p.Tyr938=) c.2742T= (p.Tyr914=) c.2619T= (p.Tyr873=) c.2247T= (p.Tyr749=) c.2037T= (p.Tyr679=) c.2034T= (p.Tyr678=) c.2332-705T= (n.2332-705T=) | |
2 | g.24823335A>C | CA346063028 | ADCY3 | c.2760T>G (p.Tyr920Ter) c.2757T>G (p.Tyr919Ter) n.29T>G c.1698T>G (p.Tyr566Ter) c.2826T>G (p.Tyr942Ter) c.2883T>G (p.Tyr961Ter) c.2880T>G (p.Tyr960Ter) c.2817T>G (p.Tyr939Ter) c.2745T>G (p.Tyr915Ter) c.2685T>G (p.Tyr895Ter) c.2217T>G (p.Tyr739Ter) c.2160T>G (p.Tyr720Ter) c.2823T>G (p.Tyr941Ter) c.2814T>G (p.Tyr938Ter) c.2742T>G (p.Tyr914Ter) c.2619T>G (p.Tyr873Ter) c.2247T>G (p.Tyr749Ter) c.2037T>G (p.Tyr679Ter) c.2034T>G (p.Tyr678Ter) c.2332-705T>G (n.2332-705T>G) | |
2 | g.24823335A>G | CA1553614 | ADCY3 | c.2760T>C (p.Tyr920=) c.2757T>C (p.Tyr919=) n.29T>C c.1698T>C (p.Tyr566=) c.2826T>C (p.Tyr942=) c.2883T>C (p.Tyr961=) c.2880T>C (p.Tyr960=) c.2817T>C (p.Tyr939=) c.2745T>C (p.Tyr915=) c.2685T>C (p.Tyr895=) c.2217T>C (p.Tyr739=) c.2160T>C (p.Tyr720=) c.2823T>C (p.Tyr941=) c.2814T>C (p.Tyr938=) c.2742T>C (p.Tyr914=) c.2619T>C (p.Tyr873=) c.2247T>C (p.Tyr749=) c.2037T>C (p.Tyr679=) c.2034T>C (p.Tyr678=) c.2332-705T>C (n.2332-705T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.24823335A>T | CA346063031 | ADCY3 | c.2760T>A (p.Tyr920Ter) c.2757T>A (p.Tyr919Ter) n.29T>A c.1698T>A (p.Tyr566Ter) c.2826T>A (p.Tyr942Ter) c.2883T>A (p.Tyr961Ter) c.2880T>A (p.Tyr960Ter) c.2817T>A (p.Tyr939Ter) c.2745T>A (p.Tyr915Ter) c.2685T>A (p.Tyr895Ter) c.2217T>A (p.Tyr739Ter) c.2160T>A (p.Tyr720Ter) c.2823T>A (p.Tyr941Ter) c.2814T>A (p.Tyr938Ter) c.2742T>A (p.Tyr914Ter) c.2619T>A (p.Tyr873Ter) c.2247T>A (p.Tyr749Ter) c.2037T>A (p.Tyr679Ter) c.2034T>A (p.Tyr678Ter) c.2332-705T>A (n.2332-705T>A) | |
2 | g.24823336T>A | CA346063039 | ADCY3 | c.2759A>T (p.Tyr920Phe) c.2756A>T (p.Tyr919Phe) n.28A>T c.1697A>T (p.Tyr566Phe) c.2825A>T (p.Tyr942Phe) c.2882A>T (p.Tyr961Phe) c.2879A>T (p.Tyr960Phe) c.2816A>T (p.Tyr939Phe) c.2744A>T (p.Tyr915Phe) c.2684A>T (p.Tyr895Phe) c.2216A>T (p.Tyr739Phe) c.2159A>T (p.Tyr720Phe) c.2822A>T (p.Tyr941Phe) c.2813A>T (p.Tyr938Phe) c.2741A>T (p.Tyr914Phe) c.2618A>T (p.Tyr873Phe) c.2246A>T (p.Tyr749Phe) c.2036A>T (p.Tyr679Phe) c.2033A>T (p.Tyr678Phe) c.2332-706A>T (n.2332-706A>T) | |
2 | g.24823336T>C | CA346063034 | ADCY3 | c.2759A>G (p.Tyr920Cys) c.2756A>G (p.Tyr919Cys) n.28A>G c.1697A>G (p.Tyr566Cys) c.2825A>G (p.Tyr942Cys) c.2882A>G (p.Tyr961Cys) c.2879A>G (p.Tyr960Cys) c.2816A>G (p.Tyr939Cys) c.2744A>G (p.Tyr915Cys) c.2684A>G (p.Tyr895Cys) c.2216A>G (p.Tyr739Cys) c.2159A>G (p.Tyr720Cys) c.2822A>G (p.Tyr941Cys) c.2813A>G (p.Tyr938Cys) c.2741A>G (p.Tyr914Cys) c.2618A>G (p.Tyr873Cys) c.2246A>G (p.Tyr749Cys) c.2036A>G (p.Tyr679Cys) c.2033A>G (p.Tyr678Cys) c.2332-706A>G (n.2332-706A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.24823336T>G | CA346063037 | ADCY3 | c.2759A>C (p.Tyr920Ser) c.2756A>C (p.Tyr919Ser) n.28A>C c.1697A>C (p.Tyr566Ser) c.2825A>C (p.Tyr942Ser) c.2882A>C (p.Tyr961Ser) c.2879A>C (p.Tyr960Ser) c.2816A>C (p.Tyr939Ser) c.2744A>C (p.Tyr915Ser) c.2684A>C (p.Tyr895Ser) c.2216A>C (p.Tyr739Ser) c.2159A>C (p.Tyr720Ser) c.2822A>C (p.Tyr941Ser) c.2813A>C (p.Tyr938Ser) c.2741A>C (p.Tyr914Ser) c.2618A>C (p.Tyr873Ser) c.2246A>C (p.Tyr749Ser) c.2036A>C (p.Tyr679Ser) c.2033A>C (p.Tyr678Ser) c.2332-706A>C (n.2332-706A>C) | |
2 | g.24823336T= | CA1239072304 | ADCY3 | c.2759A= (p.Tyr920=) c.2756A= (p.Tyr919=) n.28A= c.1697A= (p.Tyr566=) c.2825A= (p.Tyr942=) c.2882A= (p.Tyr961=) c.2879A= (p.Tyr960=) c.2816A= (p.Tyr939=) c.2744A= (p.Tyr915=) c.2684A= (p.Tyr895=) c.2216A= (p.Tyr739=) c.2159A= (p.Tyr720=) c.2822A= (p.Tyr941=) c.2813A= (p.Tyr938=) c.2741A= (p.Tyr914=) c.2618A= (p.Tyr873=) c.2246A= (p.Tyr749=) c.2036A= (p.Tyr679=) c.2033A= (p.Tyr678=) c.2332-706A= (n.2332-706A=) | |
2 | g.24823337A>C | CA346063043 | ADCY3 | c.2758T>G (p.Tyr920Asp) c.2755T>G (p.Tyr919Asp) n.27T>G c.1696T>G (p.Tyr566Asp) c.2824T>G (p.Tyr942Asp) c.2881T>G (p.Tyr961Asp) c.2878T>G (p.Tyr960Asp) c.2815T>G (p.Tyr939Asp) c.2743T>G (p.Tyr915Asp) c.2683T>G (p.Tyr895Asp) c.2215T>G (p.Tyr739Asp) c.2158T>G (p.Tyr720Asp) c.2821T>G (p.Tyr941Asp) c.2812T>G (p.Tyr938Asp) c.2740T>G (p.Tyr914Asp) c.2617T>G (p.Tyr873Asp) c.2245T>G (p.Tyr749Asp) c.2035T>G (p.Tyr679Asp) c.2032T>G (p.Tyr678Asp) c.2332-707T>G (n.2332-707T>G) | |
2 | g.24823337A>G | CA346063044 | ADCY3 | c.2758T>C (p.Tyr920His) c.2755T>C (p.Tyr919His) n.27T>C c.1696T>C (p.Tyr566His) c.2824T>C (p.Tyr942His) c.2881T>C (p.Tyr961His) c.2878T>C (p.Tyr960His) c.2815T>C (p.Tyr939His) c.2743T>C (p.Tyr915His) c.2683T>C (p.Tyr895His) c.2215T>C (p.Tyr739His) c.2158T>C (p.Tyr720His) c.2821T>C (p.Tyr941His) c.2812T>C (p.Tyr938His) c.2740T>C (p.Tyr914His) c.2617T>C (p.Tyr873His) c.2245T>C (p.Tyr749His) c.2035T>C (p.Tyr679His) c.2032T>C (p.Tyr678His) c.2332-707T>C (n.2332-707T>C) | |
2 | g.24823337A>T | CA346063047 | ADCY3 | c.2758T>A (p.Tyr920Asn) c.2755T>A (p.Tyr919Asn) n.27T>A c.1696T>A (p.Tyr566Asn) c.2824T>A (p.Tyr942Asn) c.2881T>A (p.Tyr961Asn) c.2878T>A (p.Tyr960Asn) c.2815T>A (p.Tyr939Asn) c.2743T>A (p.Tyr915Asn) c.2683T>A (p.Tyr895Asn) c.2215T>A (p.Tyr739Asn) c.2158T>A (p.Tyr720Asn) c.2821T>A (p.Tyr941Asn) c.2812T>A (p.Tyr938Asn) c.2740T>A (p.Tyr914Asn) c.2617T>A (p.Tyr873Asn) c.2245T>A (p.Tyr749Asn) c.2035T>A (p.Tyr679Asn) c.2032T>A (p.Tyr678Asn) c.2332-707T>A (n.2332-707T>A) | |
2 | g.24823337_24823342delinsACGTCT | CA1239072305 | ADCY3 | c.2753_2758delinsAGACGT (p.Gln918=) c.2750_2755delinsAGACGT (p.Gln917=) n.22_27delinsAGACGT c.1691_1696delinsAGACGT (p.Gln564=) c.2819_2824delinsAGACGT (p.Gln940=) c.2876_2881delinsAGACGT (p.Gln959=) c.2873_2878delinsAGACGT (p.Gln958=) c.2810_2815delinsAGACGT (p.Gln937=) c.2738_2743delinsAGACGT (p.Gln913=) c.2678_2683delinsAGACGT (p.Gln893=) c.2210_2215delinsAGACGT (p.Gln737=) c.2153_2158delinsAGACGT (p.Gln718=) c.2816_2821delinsAGACGT (p.Gln939=) c.2807_2812delinsAGACGT (p.Gln936=) c.2735_2740delinsAGACGT (p.Gln912=) c.2612_2617delinsAGACGT (p.Gln871=) c.2240_2245delinsAGACGT (p.Gln747=) c.2030_2035delinsAGACGT (p.Gln677=) c.2027_2032delinsAGACGT (p.Gln676=) c.2332-712_2332-707delinsAGACGT (n.2332-712_2332-707delinsAGACGT) | |
2 | g.24823338C>A | CA425172025 | ADCY3 | c.2757G>T (p.Thr919=) c.2754G>T (p.Thr918=) n.26G>T c.1695G>T (p.Thr565=) c.2823G>T (p.Thr941=) c.2880G>T (p.Thr960=) c.2877G>T (p.Thr959=) c.2814G>T (p.Thr938=) c.2742G>T (p.Thr914=) c.2682G>T (p.Thr894=) c.2214G>T (p.Thr738=) c.2157G>T (p.Thr719=) c.2820G>T (p.Thr940=) c.2811G>T (p.Thr937=) c.2739G>T (p.Thr913=) c.2616G>T (p.Thr872=) c.2244G>T (p.Thr748=) c.2034G>T (p.Thr678=) c.2031G>T (p.Thr677=) c.2332-708G>T (n.2332-708G>T) | |
2 | g.24823338C= | CA1239072306 | ADCY3 | c.2757G= (p.Thr919=) c.2754G= (p.Thr918=) n.26G= c.1695G= (p.Thr565=) c.2823G= (p.Thr941=) c.2880G= (p.Thr960=) c.2877G= (p.Thr959=) c.2814G= (p.Thr938=) c.2742G= (p.Thr914=) c.2682G= (p.Thr894=) c.2214G= (p.Thr738=) c.2157G= (p.Thr719=) c.2820G= (p.Thr940=) c.2811G= (p.Thr937=) c.2739G= (p.Thr913=) c.2616G= (p.Thr872=) c.2244G= (p.Thr748=) c.2034G= (p.Thr678=) c.2031G= (p.Thr677=) c.2332-708G= (n.2332-708G=) | |
2 | g.24823338C>G | CA425172024 | ADCY3 | c.2757G>C (p.Thr919=) c.2754G>C (p.Thr918=) n.26G>C c.1695G>C (p.Thr565=) c.2823G>C (p.Thr941=) c.2880G>C (p.Thr960=) c.2877G>C (p.Thr959=) c.2814G>C (p.Thr938=) c.2742G>C (p.Thr914=) c.2682G>C (p.Thr894=) c.2214G>C (p.Thr738=) c.2157G>C (p.Thr719=) c.2820G>C (p.Thr940=) c.2811G>C (p.Thr937=) c.2739G>C (p.Thr913=) c.2616G>C (p.Thr872=) c.2244G>C (p.Thr748=) c.2034G>C (p.Thr678=) c.2031G>C (p.Thr677=) c.2332-708G>C (n.2332-708G>C) | dbSNP |
2 | g.24823338C>T | CA1553615 | ADCY3 | c.2757G>A (p.Thr919=) c.2754G>A (p.Thr918=) n.26G>A c.1695G>A (p.Thr565=) c.2823G>A (p.Thr941=) c.2880G>A (p.Thr960=) c.2877G>A (p.Thr959=) c.2814G>A (p.Thr938=) c.2742G>A (p.Thr914=) c.2682G>A (p.Thr894=) c.2214G>A (p.Thr738=) c.2157G>A (p.Thr719=) c.2820G>A (p.Thr940=) c.2811G>A (p.Thr937=) c.2739G>A (p.Thr913=) c.2616G>A (p.Thr872=) c.2244G>A (p.Thr748=) c.2034G>A (p.Thr678=) c.2031G>A (p.Thr677=) c.2332-708G>A (n.2332-708G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.24823338_24823342del | CA425172023 | ADCY3 | c.2753_2757del (p.Gln918LeufsTer2) c.2750_2754del (p.Gln917LeufsTer2) n.22_26del c.1691_1695del (p.Gln564LeufsTer2) c.2819_2823del (p.Gln940LeufsTer2) c.2876_2880del (p.Gln959LeufsTer2) c.2873_2877del (p.Gln958LeufsTer2) c.2810_2814del (p.Gln937LeufsTer2) c.2738_2742del (p.Gln913LeufsTer2) c.2678_2682del (p.Gln893LeufsTer2) c.2210_2214del (p.Gln737LeufsTer2) c.2153_2157del (p.Gln718LeufsTer2) c.2816_2820del (p.Gln939LeufsTer2) c.2807_2811del (p.Gln936LeufsTer2) c.2735_2739del (p.Gln912LeufsTer2) c.2612_2616del (p.Gln871LeufsTer2) c.2240_2244del (p.Gln747LeufsTer2) c.2030_2034del (p.Gln677LeufsTer2) c.2027_2031del (p.Gln676LeufsTer2) c.2332-712_2332-708del (n.2332-712_2332-708del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.24823339G>A | CA1553616 | ADCY3 | c.2756C>T (p.Thr919Met) c.2753C>T (p.Thr918Met) n.25C>T c.1694C>T (p.Thr565Met) c.2822C>T (p.Thr941Met) c.2879C>T (p.Thr960Met) c.2876C>T (p.Thr959Met) c.2813C>T (p.Thr938Met) c.2741C>T (p.Thr914Met) c.2681C>T (p.Thr894Met) c.2213C>T (p.Thr738Met) c.2156C>T (p.Thr719Met) c.2819C>T (p.Thr940Met) c.2810C>T (p.Thr937Met) c.2738C>T (p.Thr913Met) c.2615C>T (p.Thr872Met) c.2243C>T (p.Thr748Met) c.2033C>T (p.Thr678Met) c.2030C>T (p.Thr677Met) c.2332-709C>T (n.2332-709C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.24823339G>C | CA346063057 | ADCY3 | c.2756C>G (p.Thr919Arg) c.2753C>G (p.Thr918Arg) n.25C>G c.1694C>G (p.Thr565Arg) c.2822C>G (p.Thr941Arg) c.2879C>G (p.Thr960Arg) c.2876C>G (p.Thr959Arg) c.2813C>G (p.Thr938Arg) c.2741C>G (p.Thr914Arg) c.2681C>G (p.Thr894Arg) c.2213C>G (p.Thr738Arg) c.2156C>G (p.Thr719Arg) c.2819C>G (p.Thr940Arg) c.2810C>G (p.Thr937Arg) c.2738C>G (p.Thr913Arg) c.2615C>G (p.Thr872Arg) c.2243C>G (p.Thr748Arg) c.2033C>G (p.Thr678Arg) c.2030C>G (p.Thr677Arg) c.2332-709C>G (n.2332-709C>G) | gnomAD v4 |
2 | g.24823339G= | CA1239072307 | ADCY3 | c.2756C= (p.Thr919=) c.2753C= (p.Thr918=) n.25C= c.1694C= (p.Thr565=) c.2822C= (p.Thr941=) c.2879C= (p.Thr960=) c.2876C= (p.Thr959=) c.2813C= (p.Thr938=) c.2741C= (p.Thr914=) c.2681C= (p.Thr894=) c.2213C= (p.Thr738=) c.2156C= (p.Thr719=) c.2819C= (p.Thr940=) c.2810C= (p.Thr937=) c.2738C= (p.Thr913=) c.2615C= (p.Thr872=) c.2243C= (p.Thr748=) c.2033C= (p.Thr678=) c.2030C= (p.Thr677=) c.2332-709C= (n.2332-709C=) | |
2 | g.24823339G>T | CA346063061 | ADCY3 | c.2756C>A (p.Thr919Lys) c.2753C>A (p.Thr918Lys) n.25C>A c.1694C>A (p.Thr565Lys) c.2822C>A (p.Thr941Lys) c.2879C>A (p.Thr960Lys) c.2876C>A (p.Thr959Lys) c.2813C>A (p.Thr938Lys) c.2741C>A (p.Thr914Lys) c.2681C>A (p.Thr894Lys) c.2213C>A (p.Thr738Lys) c.2156C>A (p.Thr719Lys) c.2819C>A (p.Thr940Lys) c.2810C>A (p.Thr937Lys) c.2738C>A (p.Thr913Lys) c.2615C>A (p.Thr872Lys) c.2243C>A (p.Thr748Lys) c.2033C>A (p.Thr678Lys) c.2030C>A (p.Thr677Lys) c.2332-709C>A (n.2332-709C>A) | |
2 | g.24823339_24823342delinsGTCT | CA1239072308 | ADCY3 | c.2753_2756delinsAGAC (p.Gln918=) c.2750_2753delinsAGAC (p.Gln917=) n.22_25delinsAGAC c.1691_1694delinsAGAC (p.Gln564=) c.2819_2822delinsAGAC (p.Gln940=) c.2876_2879delinsAGAC (p.Gln959=) c.2873_2876delinsAGAC (p.Gln958=) c.2810_2813delinsAGAC (p.Gln937=) c.2738_2741delinsAGAC (p.Gln913=) c.2678_2681delinsAGAC (p.Gln893=) c.2210_2213delinsAGAC (p.Gln737=) c.2153_2156delinsAGAC (p.Gln718=) c.2816_2819delinsAGAC (p.Gln939=) c.2807_2810delinsAGAC (p.Gln936=) c.2735_2738delinsAGAC (p.Gln912=) c.2612_2615delinsAGAC (p.Gln871=) c.2240_2243delinsAGAC (p.Gln747=) c.2030_2033delinsAGAC (p.Gln677=) c.2027_2030delinsAGAC (p.Gln676=) c.2332-712_2332-709delinsAGAC (n.2332-712_2332-709delinsAGAC) | |
2 | g.24823340T>A | CA346063064 | ADCY3 | c.2755A>T (p.Thr919Ser) c.2752A>T (p.Thr918Ser) n.24A>T c.1693A>T (p.Thr565Ser) c.2821A>T (p.Thr941Ser) c.2878A>T (p.Thr960Ser) c.2875A>T (p.Thr959Ser) c.2812A>T (p.Thr938Ser) c.2740A>T (p.Thr914Ser) c.2680A>T (p.Thr894Ser) c.2212A>T (p.Thr738Ser) c.2155A>T (p.Thr719Ser) c.2818A>T (p.Thr940Ser) c.2809A>T (p.Thr937Ser) c.2737A>T (p.Thr913Ser) c.2614A>T (p.Thr872Ser) c.2242A>T (p.Thr748Ser) c.2032A>T (p.Thr678Ser) c.2029A>T (p.Thr677Ser) c.2332-710A>T (n.2332-710A>T) | |
2 | g.24823340T>C | CA346063066 | ADCY3 | c.2755A>G (p.Thr919Ala) c.2752A>G (p.Thr918Ala) n.24A>G c.1693A>G (p.Thr565Ala) c.2821A>G (p.Thr941Ala) c.2878A>G (p.Thr960Ala) c.2875A>G (p.Thr959Ala) c.2812A>G (p.Thr938Ala) c.2740A>G (p.Thr914Ala) c.2680A>G (p.Thr894Ala) c.2212A>G (p.Thr738Ala) c.2155A>G (p.Thr719Ala) c.2818A>G (p.Thr940Ala) c.2809A>G (p.Thr937Ala) c.2737A>G (p.Thr913Ala) c.2614A>G (p.Thr872Ala) c.2242A>G (p.Thr748Ala) c.2032A>G (p.Thr678Ala) c.2029A>G (p.Thr677Ala) c.2332-710A>G (n.2332-710A>G) | |
2 | g.24823340T>G | CA346063067 | ADCY3 | c.2755A>C (p.Thr919Pro) c.2752A>C (p.Thr918Pro) n.24A>C c.1693A>C (p.Thr565Pro) c.2821A>C (p.Thr941Pro) c.2878A>C (p.Thr960Pro) c.2875A>C (p.Thr959Pro) c.2812A>C (p.Thr938Pro) c.2740A>C (p.Thr914Pro) c.2680A>C (p.Thr894Pro) c.2212A>C (p.Thr738Pro) c.2155A>C (p.Thr719Pro) c.2818A>C (p.Thr940Pro) c.2809A>C (p.Thr937Pro) c.2737A>C (p.Thr913Pro) c.2614A>C (p.Thr872Pro) c.2242A>C (p.Thr748Pro) c.2032A>C (p.Thr678Pro) c.2029A>C (p.Thr677Pro) c.2332-710A>C (n.2332-710A>C) | |
2 | g.24823340_24823342del | CA767116686 | ADCY3 | c.2753_2755del (p.Gln918_Thr919delinsPro) c.2750_2752del (p.Gln917_Thr918delinsPro) n.22_24del c.1691_1693del (p.Gln564_Thr565delinsPro) c.2819_2821del (p.Gln940_Thr941delinsPro) c.2876_2878del (p.Gln959_Thr960delinsPro) c.2873_2875del (p.Gln958_Thr959delinsPro) c.2810_2812del (p.Gln937_Thr938delinsPro) c.2738_2740del (p.Gln913_Thr914delinsPro) c.2678_2680del (p.Gln893_Thr894delinsPro) c.2210_2212del (p.Gln737_Thr738delinsPro) c.2153_2155del (p.Gln718_Thr719delinsPro) c.2816_2818del (p.Gln939_Thr940delinsPro) c.2807_2809del (p.Gln936_Thr937delinsPro) c.2735_2737del (p.Gln912_Thr913delinsPro) c.2612_2614del (p.Gln871_Thr872delinsPro) c.2240_2242del (p.Gln747_Thr748delinsPro) c.2030_2032del (p.Gln677_Thr678delinsPro) c.2027_2029del (p.Gln676_Thr677delinsPro) c.2332-712_2332-710del (n.2332-712_2332-710del) | dbSNP |