Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.24824458G>A | CA1553651 | ADCY3 | c.2659C>T (p.Arg887Cys) c.2656C>T (p.Arg886Cys) c.1597C>T (p.Arg533Cys) c.2725C>T (p.Arg909Cys) c.2782C>T (p.Arg928Cys) c.2779C>T (p.Arg927Cys) c.2716C>T (p.Arg906Cys) c.2644C>T (p.Arg882Cys) c.2584C>T (p.Arg862Cys) c.2116C>T (p.Arg706Cys) c.2059C>T (p.Arg687Cys) c.2722C>T (p.Arg908Cys) c.2713C>T (p.Arg905Cys) c.2641C>T (p.Arg881Cys) c.2518C>T (p.Arg840Cys) c.2146C>T (p.Arg716Cys) c.1936C>T (p.Arg646Cys) c.1933C>T (p.Arg645Cys) c.2251C>T (p.Arg751Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.24824458G>C | CA346063652 | ADCY3 | c.2659C>G (p.Arg887Gly) c.2656C>G (p.Arg886Gly) c.1597C>G (p.Arg533Gly) c.2725C>G (p.Arg909Gly) c.2782C>G (p.Arg928Gly) c.2779C>G (p.Arg927Gly) c.2716C>G (p.Arg906Gly) c.2644C>G (p.Arg882Gly) c.2584C>G (p.Arg862Gly) c.2116C>G (p.Arg706Gly) c.2059C>G (p.Arg687Gly) c.2722C>G (p.Arg908Gly) c.2713C>G (p.Arg905Gly) c.2641C>G (p.Arg881Gly) c.2518C>G (p.Arg840Gly) c.2146C>G (p.Arg716Gly) c.1936C>G (p.Arg646Gly) c.1933C>G (p.Arg645Gly) c.2251C>G (p.Arg751Gly) | |
2 | g.24824458G= | CA1239072930 | ADCY3 | c.2659C= (p.Arg887=) c.2656C= (p.Arg886=) c.1597C= (p.Arg533=) c.2725C= (p.Arg909=) c.2782C= (p.Arg928=) c.2779C= (p.Arg927=) c.2716C= (p.Arg906=) c.2644C= (p.Arg882=) c.2584C= (p.Arg862=) c.2116C= (p.Arg706=) c.2059C= (p.Arg687=) c.2722C= (p.Arg908=) c.2713C= (p.Arg905=) c.2641C= (p.Arg881=) c.2518C= (p.Arg840=) c.2146C= (p.Arg716=) c.1936C= (p.Arg646=) c.1933C= (p.Arg645=) c.2251C= (p.Arg751=) | |
2 | g.24824458G>T | CA346063654 | ADCY3 | c.2659C>A (p.Arg887Ser) c.2656C>A (p.Arg886Ser) c.1597C>A (p.Arg533Ser) c.2725C>A (p.Arg909Ser) c.2782C>A (p.Arg928Ser) c.2779C>A (p.Arg927Ser) c.2716C>A (p.Arg906Ser) c.2644C>A (p.Arg882Ser) c.2584C>A (p.Arg862Ser) c.2116C>A (p.Arg706Ser) c.2059C>A (p.Arg687Ser) c.2722C>A (p.Arg908Ser) c.2713C>A (p.Arg905Ser) c.2641C>A (p.Arg881Ser) c.2518C>A (p.Arg840Ser) c.2146C>A (p.Arg716Ser) c.1936C>A (p.Arg646Ser) c.1933C>A (p.Arg645Ser) c.2251C>A (p.Arg751Ser) | |
2 | g.24824459T>A | CA425172184 | ADCY3 | c.2658A>T (p.Arg886=) c.2655A>T (p.Arg885=) c.1596A>T (p.Arg532=) c.2724A>T (p.Arg908=) c.2781A>T (p.Arg927=) c.2778A>T (p.Arg926=) c.2715A>T (p.Arg905=) c.2643A>T (p.Arg881=) c.2583A>T (p.Arg861=) c.2115A>T (p.Arg705=) c.2058A>T (p.Arg686=) c.2721A>T (p.Arg907=) c.2712A>T (p.Arg904=) c.2640A>T (p.Arg880=) c.2517A>T (p.Arg839=) c.2145A>T (p.Arg715=) c.1935A>T (p.Arg645=) c.1932A>T (p.Arg644=) c.2250A>T (p.Arg750=) | |
2 | g.24824459T>C | CA425172186 | ADCY3 | c.2658A>G (p.Arg886=) c.2655A>G (p.Arg885=) c.1596A>G (p.Arg532=) c.2724A>G (p.Arg908=) c.2781A>G (p.Arg927=) c.2778A>G (p.Arg926=) c.2715A>G (p.Arg905=) c.2643A>G (p.Arg881=) c.2583A>G (p.Arg861=) c.2115A>G (p.Arg705=) c.2058A>G (p.Arg686=) c.2721A>G (p.Arg907=) c.2712A>G (p.Arg904=) c.2640A>G (p.Arg880=) c.2517A>G (p.Arg839=) c.2145A>G (p.Arg715=) c.1935A>G (p.Arg645=) c.1932A>G (p.Arg644=) c.2250A>G (p.Arg750=) | |
2 | g.24824459T>G | CA425172185 | ADCY3 | c.2658A>C (p.Arg886=) c.2655A>C (p.Arg885=) c.1596A>C (p.Arg532=) c.2724A>C (p.Arg908=) c.2781A>C (p.Arg927=) c.2778A>C (p.Arg926=) c.2715A>C (p.Arg905=) c.2643A>C (p.Arg881=) c.2583A>C (p.Arg861=) c.2115A>C (p.Arg705=) c.2058A>C (p.Arg686=) c.2721A>C (p.Arg907=) c.2712A>C (p.Arg904=) c.2640A>C (p.Arg880=) c.2517A>C (p.Arg839=) c.2145A>C (p.Arg715=) c.1935A>C (p.Arg645=) c.1932A>C (p.Arg644=) c.2250A>C (p.Arg750=) | |
2 | g.24824461_24824467del | CA2658139999 | ADCY3 | c.2652_2658del (p.Glu884AspfsTer?) c.2649_2655del (p.Glu883AspfsTer?) c.1590_1596del (p.Glu530AspfsTer?) c.2718_2724del (p.Glu906AspfsTer?) c.2775_2781del (p.Glu925AspfsTer?) c.2772_2778del (p.Glu924AspfsTer?) c.2709_2715del (p.Glu903AspfsTer?) c.2637_2643del (p.Glu879AspfsTer?) c.2577_2583del (p.Glu859AspfsTer?) c.2109_2115del (p.Glu703AspfsTer?) c.2052_2058del (p.Glu684AspfsTer?) c.2715_2721del (p.Glu905AspfsTer?) c.2706_2712del (p.Glu902AspfsTer?) c.2634_2640del (p.Glu878AspfsTer?) c.2511_2517del (p.Glu837AspfsTer?) c.2139_2145del (p.Glu713AspfsTer?) c.1929_1935del (p.Glu643AspfsTer?) c.1926_1932del (p.Glu642AspfsTer?) c.2244_2250del (p.Glu748AspfsTer?) | gnomAD v4 |
2 | g.24824460C>A | CA346063656 | ADCY3 | c.2657G>T (p.Arg886Leu) c.2654G>T (p.Arg885Leu) c.1595G>T (p.Arg532Leu) c.2723G>T (p.Arg908Leu) c.2780G>T (p.Arg927Leu) c.2777G>T (p.Arg926Leu) c.2714G>T (p.Arg905Leu) c.2642G>T (p.Arg881Leu) c.2582G>T (p.Arg861Leu) c.2114G>T (p.Arg705Leu) c.2057G>T (p.Arg686Leu) c.2720G>T (p.Arg907Leu) c.2711G>T (p.Arg904Leu) c.2639G>T (p.Arg880Leu) c.2516G>T (p.Arg839Leu) c.2144G>T (p.Arg715Leu) c.1934G>T (p.Arg645Leu) c.1931G>T (p.Arg644Leu) c.2249G>T (p.Arg750Leu) | |
2 | g.24824460C= | CA1239072931 | ADCY3 | c.2657G= (p.Arg886=) c.2654G= (p.Arg885=) c.1595G= (p.Arg532=) c.2723G= (p.Arg908=) c.2780G= (p.Arg927=) c.2777G= (p.Arg926=) c.2714G= (p.Arg905=) c.2642G= (p.Arg881=) c.2582G= (p.Arg861=) c.2114G= (p.Arg705=) c.2057G= (p.Arg686=) c.2720G= (p.Arg907=) c.2711G= (p.Arg904=) c.2639G= (p.Arg880=) c.2516G= (p.Arg839=) c.2144G= (p.Arg715=) c.1934G= (p.Arg645=) c.1931G= (p.Arg644=) c.2249G= (p.Arg750=) | |
2 | g.24824460C>G | CA346063658 | ADCY3 | c.2657G>C (p.Arg886Pro) c.2654G>C (p.Arg885Pro) c.1595G>C (p.Arg532Pro) c.2723G>C (p.Arg908Pro) c.2780G>C (p.Arg927Pro) c.2777G>C (p.Arg926Pro) c.2714G>C (p.Arg905Pro) c.2642G>C (p.Arg881Pro) c.2582G>C (p.Arg861Pro) c.2114G>C (p.Arg705Pro) c.2057G>C (p.Arg686Pro) c.2720G>C (p.Arg907Pro) c.2711G>C (p.Arg904Pro) c.2639G>C (p.Arg880Pro) c.2516G>C (p.Arg839Pro) c.2144G>C (p.Arg715Pro) c.1934G>C (p.Arg645Pro) c.1931G>C (p.Arg644Pro) c.2249G>C (p.Arg750Pro) | |
2 | g.24824460C>T | CA346063657 | ADCY3 | c.2657G>A (p.Arg886Gln) c.2654G>A (p.Arg885Gln) c.1595G>A (p.Arg532Gln) c.2723G>A (p.Arg908Gln) c.2780G>A (p.Arg927Gln) c.2777G>A (p.Arg926Gln) c.2714G>A (p.Arg905Gln) c.2642G>A (p.Arg881Gln) c.2582G>A (p.Arg861Gln) c.2114G>A (p.Arg705Gln) c.2057G>A (p.Arg686Gln) c.2720G>A (p.Arg907Gln) c.2711G>A (p.Arg904Gln) c.2639G>A (p.Arg880Gln) c.2516G>A (p.Arg839Gln) c.2144G>A (p.Arg715Gln) c.1934G>A (p.Arg645Gln) c.1931G>A (p.Arg644Gln) c.2249G>A (p.Arg750Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.24824461G>A | CA346063659 | ADCY3 | c.2656C>T (p.Arg886Ter) c.2653C>T (p.Arg885Ter) c.1594C>T (p.Arg532Ter) c.2722C>T (p.Arg908Ter) c.2779C>T (p.Arg927Ter) c.2776C>T (p.Arg926Ter) c.2713C>T (p.Arg905Ter) c.2641C>T (p.Arg881Ter) c.2581C>T (p.Arg861Ter) c.2113C>T (p.Arg705Ter) c.2056C>T (p.Arg686Ter) c.2719C>T (p.Arg907Ter) c.2710C>T (p.Arg904Ter) c.2638C>T (p.Arg880Ter) c.2515C>T (p.Arg839Ter) c.2143C>T (p.Arg715Ter) c.1933C>T (p.Arg645Ter) c.1930C>T (p.Arg644Ter) c.2248C>T (p.Arg750Ter) | dbSNP COSMIC |
2 | g.24824461G>C | CA346063661 | ADCY3 | c.2656C>G (p.Arg886Gly) c.2653C>G (p.Arg885Gly) c.1594C>G (p.Arg532Gly) c.2722C>G (p.Arg908Gly) c.2779C>G (p.Arg927Gly) c.2776C>G (p.Arg926Gly) c.2713C>G (p.Arg905Gly) c.2641C>G (p.Arg881Gly) c.2581C>G (p.Arg861Gly) c.2113C>G (p.Arg705Gly) c.2056C>G (p.Arg686Gly) c.2719C>G (p.Arg907Gly) c.2710C>G (p.Arg904Gly) c.2638C>G (p.Arg880Gly) c.2515C>G (p.Arg839Gly) c.2143C>G (p.Arg715Gly) c.1933C>G (p.Arg645Gly) c.1930C>G (p.Arg644Gly) c.2248C>G (p.Arg750Gly) | |
2 | g.24824461G= | CA1239072932 | ADCY3 | c.2656C= (p.Arg886=) c.2653C= (p.Arg885=) c.1594C= (p.Arg532=) c.2722C= (p.Arg908=) c.2779C= (p.Arg927=) c.2776C= (p.Arg926=) c.2713C= (p.Arg905=) c.2641C= (p.Arg881=) c.2581C= (p.Arg861=) c.2113C= (p.Arg705=) c.2056C= (p.Arg686=) c.2719C= (p.Arg907=) c.2710C= (p.Arg904=) c.2638C= (p.Arg880=) c.2515C= (p.Arg839=) c.2143C= (p.Arg715=) c.1933C= (p.Arg645=) c.1930C= (p.Arg644=) c.2248C= (p.Arg750=) | |
2 | g.24824461G>T | CA425172187 | ADCY3 | c.2656C>A (p.Arg886=) c.2653C>A (p.Arg885=) c.1594C>A (p.Arg532=) c.2722C>A (p.Arg908=) c.2779C>A (p.Arg927=) c.2776C>A (p.Arg926=) c.2713C>A (p.Arg905=) c.2641C>A (p.Arg881=) c.2581C>A (p.Arg861=) c.2113C>A (p.Arg705=) c.2056C>A (p.Arg686=) c.2719C>A (p.Arg907=) c.2710C>A (p.Arg904=) c.2638C>A (p.Arg880=) c.2515C>A (p.Arg839=) c.2143C>A (p.Arg715=) c.1933C>A (p.Arg645=) c.1930C>A (p.Arg644=) c.2248C>A (p.Arg750=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.24824462C>A | CA346063662 | ADCY3 | c.2655G>T (p.Met885Ile) c.2652G>T (p.Met884Ile) c.1593G>T (p.Met531Ile) c.2721G>T (p.Met907Ile) c.2778G>T (p.Met926Ile) c.2775G>T (p.Met925Ile) c.2712G>T (p.Met904Ile) c.2640G>T (p.Met880Ile) c.2580G>T (p.Met860Ile) c.2112G>T (p.Met704Ile) c.2055G>T (p.Met685Ile) c.2718G>T (p.Met906Ile) c.2709G>T (p.Met903Ile) c.2637G>T (p.Met879Ile) c.2514G>T (p.Met838Ile) c.2142G>T (p.Met714Ile) c.1932G>T (p.Met644Ile) c.1929G>T (p.Met643Ile) c.2247G>T (p.Met749Ile) | |
2 | g.24824462C= | CA1239072933 | ADCY3 | c.2655G= (p.Met885=) c.2652G= (p.Met884=) c.1593G= (p.Met531=) c.2721G= (p.Met907=) c.2778G= (p.Met926=) c.2775G= (p.Met925=) c.2712G= (p.Met904=) c.2640G= (p.Met880=) c.2580G= (p.Met860=) c.2112G= (p.Met704=) c.2055G= (p.Met685=) c.2718G= (p.Met906=) c.2709G= (p.Met903=) c.2637G= (p.Met879=) c.2514G= (p.Met838=) c.2142G= (p.Met714=) c.1932G= (p.Met644=) c.1929G= (p.Met643=) c.2247G= (p.Met749=) | |
2 | g.24824462C>G | CA346063664 | ADCY3 | c.2655G>C (p.Met885Ile) c.2652G>C (p.Met884Ile) c.1593G>C (p.Met531Ile) c.2721G>C (p.Met907Ile) c.2778G>C (p.Met926Ile) c.2775G>C (p.Met925Ile) c.2712G>C (p.Met904Ile) c.2640G>C (p.Met880Ile) c.2580G>C (p.Met860Ile) c.2112G>C (p.Met704Ile) c.2055G>C (p.Met685Ile) c.2718G>C (p.Met906Ile) c.2709G>C (p.Met903Ile) c.2637G>C (p.Met879Ile) c.2514G>C (p.Met838Ile) c.2142G>C (p.Met714Ile) c.1932G>C (p.Met644Ile) c.1929G>C (p.Met643Ile) c.2247G>C (p.Met749Ile) | |
2 | g.24824462C>T | CA346063665 | ADCY3 | c.2655G>A (p.Met885Ile) c.2652G>A (p.Met884Ile) c.1593G>A (p.Met531Ile) c.2721G>A (p.Met907Ile) c.2778G>A (p.Met926Ile) c.2775G>A (p.Met925Ile) c.2712G>A (p.Met904Ile) c.2640G>A (p.Met880Ile) c.2580G>A (p.Met860Ile) c.2112G>A (p.Met704Ile) c.2055G>A (p.Met685Ile) c.2718G>A (p.Met906Ile) c.2709G>A (p.Met903Ile) c.2637G>A (p.Met879Ile) c.2514G>A (p.Met838Ile) c.2142G>A (p.Met714Ile) c.1932G>A (p.Met644Ile) c.1929G>A (p.Met643Ile) c.2247G>A (p.Met749Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.24824463A>C | CA346063666 | ADCY3 | c.2654T>G (p.Met885Arg) c.2651T>G (p.Met884Arg) c.1592T>G (p.Met531Arg) c.2720T>G (p.Met907Arg) c.2777T>G (p.Met926Arg) c.2774T>G (p.Met925Arg) c.2711T>G (p.Met904Arg) c.2639T>G (p.Met880Arg) c.2579T>G (p.Met860Arg) c.2111T>G (p.Met704Arg) c.2054T>G (p.Met685Arg) c.2717T>G (p.Met906Arg) c.2708T>G (p.Met903Arg) c.2636T>G (p.Met879Arg) c.2513T>G (p.Met838Arg) c.2141T>G (p.Met714Arg) c.1931T>G (p.Met644Arg) c.1928T>G (p.Met643Arg) c.2246T>G (p.Met749Arg) | |
2 | g.24824463A>G | CA346063668 | ADCY3 | c.2654T>C (p.Met885Thr) c.2651T>C (p.Met884Thr) c.1592T>C (p.Met531Thr) c.2720T>C (p.Met907Thr) c.2777T>C (p.Met926Thr) c.2774T>C (p.Met925Thr) c.2711T>C (p.Met904Thr) c.2639T>C (p.Met880Thr) c.2579T>C (p.Met860Thr) c.2111T>C (p.Met704Thr) c.2054T>C (p.Met685Thr) c.2717T>C (p.Met906Thr) c.2708T>C (p.Met903Thr) c.2636T>C (p.Met879Thr) c.2513T>C (p.Met838Thr) c.2141T>C (p.Met714Thr) c.1931T>C (p.Met644Thr) c.1928T>C (p.Met643Thr) c.2246T>C (p.Met749Thr) | |
2 | g.24824463A>T | CA346063670 | ADCY3 | c.2654T>A (p.Met885Lys) c.2651T>A (p.Met884Lys) c.1592T>A (p.Met531Lys) c.2720T>A (p.Met907Lys) c.2777T>A (p.Met926Lys) c.2774T>A (p.Met925Lys) c.2711T>A (p.Met904Lys) c.2639T>A (p.Met880Lys) c.2579T>A (p.Met860Lys) c.2111T>A (p.Met704Lys) c.2054T>A (p.Met685Lys) c.2717T>A (p.Met906Lys) c.2708T>A (p.Met903Lys) c.2636T>A (p.Met879Lys) c.2513T>A (p.Met838Lys) c.2141T>A (p.Met714Lys) c.1931T>A (p.Met644Lys) c.1928T>A (p.Met643Lys) c.2246T>A (p.Met749Lys) | |
2 | g.24824464T>A | CA346063672 | ADCY3 | c.2653A>T (p.Met885Leu) c.2650A>T (p.Met884Leu) c.1591A>T (p.Met531Leu) c.2719A>T (p.Met907Leu) c.2776A>T (p.Met926Leu) c.2773A>T (p.Met925Leu) c.2710A>T (p.Met904Leu) c.2638A>T (p.Met880Leu) c.2578A>T (p.Met860Leu) c.2110A>T (p.Met704Leu) c.2053A>T (p.Met685Leu) c.2716A>T (p.Met906Leu) c.2707A>T (p.Met903Leu) c.2635A>T (p.Met879Leu) c.2512A>T (p.Met838Leu) c.2140A>T (p.Met714Leu) c.1930A>T (p.Met644Leu) c.1927A>T (p.Met643Leu) c.2245A>T (p.Met749Leu) | |
2 | g.24824464T>C | CA346063673 | ADCY3 | c.2653A>G (p.Met885Val) c.2650A>G (p.Met884Val) c.1591A>G (p.Met531Val) c.2719A>G (p.Met907Val) c.2776A>G (p.Met926Val) c.2773A>G (p.Met925Val) c.2710A>G (p.Met904Val) c.2638A>G (p.Met880Val) c.2578A>G (p.Met860Val) c.2110A>G (p.Met704Val) c.2053A>G (p.Met685Val) c.2716A>G (p.Met906Val) c.2707A>G (p.Met903Val) c.2635A>G (p.Met879Val) c.2512A>G (p.Met838Val) c.2140A>G (p.Met714Val) c.1930A>G (p.Met644Val) c.1927A>G (p.Met643Val) c.2245A>G (p.Met749Val) | |
2 | g.24824464T>G | CA346063675 | ADCY3 | c.2653A>C (p.Met885Leu) c.2650A>C (p.Met884Leu) c.1591A>C (p.Met531Leu) c.2719A>C (p.Met907Leu) c.2776A>C (p.Met926Leu) c.2773A>C (p.Met925Leu) c.2710A>C (p.Met904Leu) c.2638A>C (p.Met880Leu) c.2578A>C (p.Met860Leu) c.2110A>C (p.Met704Leu) c.2053A>C (p.Met685Leu) c.2716A>C (p.Met906Leu) c.2707A>C (p.Met903Leu) c.2635A>C (p.Met879Leu) c.2512A>C (p.Met838Leu) c.2140A>C (p.Met714Leu) c.1930A>C (p.Met644Leu) c.1927A>C (p.Met643Leu) c.2245A>C (p.Met749Leu) | gnomAD v4 |
2 | g.24824465C>A | CA346063677 | ADCY3 | c.2652G>T (p.Glu884Asp) c.2649G>T (p.Glu883Asp) c.1590G>T (p.Glu530Asp) c.2718G>T (p.Glu906Asp) c.2775G>T (p.Glu925Asp) c.2772G>T (p.Glu924Asp) c.2709G>T (p.Glu903Asp) c.2637G>T (p.Glu879Asp) c.2577G>T (p.Glu859Asp) c.2109G>T (p.Glu703Asp) c.2052G>T (p.Glu684Asp) c.2715G>T (p.Glu905Asp) c.2706G>T (p.Glu902Asp) c.2634G>T (p.Glu878Asp) c.2511G>T (p.Glu837Asp) c.2139G>T (p.Glu713Asp) c.1929G>T (p.Glu643Asp) c.1926G>T (p.Glu642Asp) c.2244G>T (p.Glu748Asp) | |
2 | g.24824465C= | CA1239072934 | ADCY3 | c.2652G= (p.Glu884=) c.2649G= (p.Glu883=) c.1590G= (p.Glu530=) c.2718G= (p.Glu906=) c.2775G= (p.Glu925=) c.2772G= (p.Glu924=) c.2709G= (p.Glu903=) c.2637G= (p.Glu879=) c.2577G= (p.Glu859=) c.2109G= (p.Glu703=) c.2052G= (p.Glu684=) c.2715G= (p.Glu905=) c.2706G= (p.Glu902=) c.2634G= (p.Glu878=) c.2511G= (p.Glu837=) c.2139G= (p.Glu713=) c.1929G= (p.Glu643=) c.1926G= (p.Glu642=) c.2244G= (p.Glu748=) | |
2 | g.24824465C>G | CA346063679 | ADCY3 | c.2652G>C (p.Glu884Asp) c.2649G>C (p.Glu883Asp) c.1590G>C (p.Glu530Asp) c.2718G>C (p.Glu906Asp) c.2775G>C (p.Glu925Asp) c.2772G>C (p.Glu924Asp) c.2709G>C (p.Glu903Asp) c.2637G>C (p.Glu879Asp) c.2577G>C (p.Glu859Asp) c.2109G>C (p.Glu703Asp) c.2052G>C (p.Glu684Asp) c.2715G>C (p.Glu905Asp) c.2706G>C (p.Glu902Asp) c.2634G>C (p.Glu878Asp) c.2511G>C (p.Glu837Asp) c.2139G>C (p.Glu713Asp) c.1929G>C (p.Glu643Asp) c.1926G>C (p.Glu642Asp) c.2244G>C (p.Glu748Asp) | |
2 | g.24824465C>T | CA1553652 | ADCY3 | c.2652G>A (p.Glu884=) c.2649G>A (p.Glu883=) c.1590G>A (p.Glu530=) c.2718G>A (p.Glu906=) c.2775G>A (p.Glu925=) c.2772G>A (p.Glu924=) c.2709G>A (p.Glu903=) c.2637G>A (p.Glu879=) c.2577G>A (p.Glu859=) c.2109G>A (p.Glu703=) c.2052G>A (p.Glu684=) c.2715G>A (p.Glu905=) c.2706G>A (p.Glu902=) c.2634G>A (p.Glu878=) c.2511G>A (p.Glu837=) c.2139G>A (p.Glu713=) c.1929G>A (p.Glu643=) c.1926G>A (p.Glu642=) c.2244G>A (p.Glu748=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.24824466T>A | CA346063680 | ADCY3 | c.2651A>T (p.Glu884Val) c.2648A>T (p.Glu883Val) c.1589A>T (p.Glu530Val) c.2717A>T (p.Glu906Val) c.2774A>T (p.Glu925Val) c.2771A>T (p.Glu924Val) c.2708A>T (p.Glu903Val) c.2636A>T (p.Glu879Val) c.2576A>T (p.Glu859Val) c.2108A>T (p.Glu703Val) c.2051A>T (p.Glu684Val) c.2714A>T (p.Glu905Val) c.2705A>T (p.Glu902Val) c.2633A>T (p.Glu878Val) c.2510A>T (p.Glu837Val) c.2138A>T (p.Glu713Val) c.1928A>T (p.Glu643Val) c.1925A>T (p.Glu642Val) c.2243A>T (p.Glu748Val) | |
2 | g.24824466T>C | CA346063682 | ADCY3 | c.2651A>G (p.Glu884Gly) c.2648A>G (p.Glu883Gly) c.1589A>G (p.Glu530Gly) c.2717A>G (p.Glu906Gly) c.2774A>G (p.Glu925Gly) c.2771A>G (p.Glu924Gly) c.2708A>G (p.Glu903Gly) c.2636A>G (p.Glu879Gly) c.2576A>G (p.Glu859Gly) c.2108A>G (p.Glu703Gly) c.2051A>G (p.Glu684Gly) c.2714A>G (p.Glu905Gly) c.2705A>G (p.Glu902Gly) c.2633A>G (p.Glu878Gly) c.2510A>G (p.Glu837Gly) c.2138A>G (p.Glu713Gly) c.1928A>G (p.Glu643Gly) c.1925A>G (p.Glu642Gly) c.2243A>G (p.Glu748Gly) | |
2 | g.24824466T>G | CA346063683 | ADCY3 | c.2651A>C (p.Glu884Ala) c.2648A>C (p.Glu883Ala) c.1589A>C (p.Glu530Ala) c.2717A>C (p.Glu906Ala) c.2774A>C (p.Glu925Ala) c.2771A>C (p.Glu924Ala) c.2708A>C (p.Glu903Ala) c.2636A>C (p.Glu879Ala) c.2576A>C (p.Glu859Ala) c.2108A>C (p.Glu703Ala) c.2051A>C (p.Glu684Ala) c.2714A>C (p.Glu905Ala) c.2705A>C (p.Glu902Ala) c.2633A>C (p.Glu878Ala) c.2510A>C (p.Glu837Ala) c.2138A>C (p.Glu713Ala) c.1928A>C (p.Glu643Ala) c.1925A>C (p.Glu642Ala) c.2243A>C (p.Glu748Ala) | |
2 | g.24824467C>A | CA346063685 | ADCY3 | c.2650G>T (p.Glu884Ter) c.2647G>T (p.Glu883Ter) c.1588G>T (p.Glu530Ter) c.2716G>T (p.Glu906Ter) c.2773G>T (p.Glu925Ter) c.2770G>T (p.Glu924Ter) c.2707G>T (p.Glu903Ter) c.2635G>T (p.Glu879Ter) c.2575G>T (p.Glu859Ter) c.2107G>T (p.Glu703Ter) c.2050G>T (p.Glu684Ter) c.2713G>T (p.Glu905Ter) c.2704G>T (p.Glu902Ter) c.2632G>T (p.Glu878Ter) c.2509G>T (p.Glu837Ter) c.2137G>T (p.Glu713Ter) c.1927G>T (p.Glu643Ter) c.1924G>T (p.Glu642Ter) c.2242G>T (p.Glu748Ter) | |
2 | g.24824467C>G | CA346063686 | ADCY3 | c.2650G>C (p.Glu884Gln) c.2647G>C (p.Glu883Gln) c.1588G>C (p.Glu530Gln) c.2716G>C (p.Glu906Gln) c.2773G>C (p.Glu925Gln) c.2770G>C (p.Glu924Gln) c.2707G>C (p.Glu903Gln) c.2635G>C (p.Glu879Gln) c.2575G>C (p.Glu859Gln) c.2107G>C (p.Glu703Gln) c.2050G>C (p.Glu684Gln) c.2713G>C (p.Glu905Gln) c.2704G>C (p.Glu902Gln) c.2632G>C (p.Glu878Gln) c.2509G>C (p.Glu837Gln) c.2137G>C (p.Glu713Gln) c.1927G>C (p.Glu643Gln) c.1924G>C (p.Glu642Gln) c.2242G>C (p.Glu748Gln) | |
2 | g.24824467C>T | CA346063688 | ADCY3 | c.2650G>A (p.Glu884Lys) c.2647G>A (p.Glu883Lys) c.1588G>A (p.Glu530Lys) c.2716G>A (p.Glu906Lys) c.2773G>A (p.Glu925Lys) c.2770G>A (p.Glu924Lys) c.2707G>A (p.Glu903Lys) c.2635G>A (p.Glu879Lys) c.2575G>A (p.Glu859Lys) c.2107G>A (p.Glu703Lys) c.2050G>A (p.Glu684Lys) c.2713G>A (p.Glu905Lys) c.2704G>A (p.Glu902Lys) c.2632G>A (p.Glu878Lys) c.2509G>A (p.Glu837Lys) c.2137G>A (p.Glu713Lys) c.1927G>A (p.Glu643Lys) c.1924G>A (p.Glu642Lys) c.2242G>A (p.Glu748Lys) | gnomAD v4 |
2 | g.24824468A= | CA1239072935 | ADCY3 | c.2649T= (p.Tyr883=) c.2646T= (p.Tyr882=) c.1587T= (p.Tyr529=) c.2715T= (p.Tyr905=) c.2772T= (p.Tyr924=) c.2769T= (p.Tyr923=) c.2706T= (p.Tyr902=) c.2634T= (p.Tyr878=) c.2574T= (p.Tyr858=) c.2106T= (p.Tyr702=) c.2049T= (p.Tyr683=) c.2712T= (p.Tyr904=) c.2703T= (p.Tyr901=) c.2631T= (p.Tyr877=) c.2508T= (p.Tyr836=) c.2136T= (p.Tyr712=) c.1926T= (p.Tyr642=) c.1923T= (p.Tyr641=) c.2241T= (p.Tyr747=) | |
2 | g.24824468A>C | CA346063689 | ADCY3 | c.2649T>G (p.Tyr883Ter) c.2646T>G (p.Tyr882Ter) c.1587T>G (p.Tyr529Ter) c.2715T>G (p.Tyr905Ter) c.2772T>G (p.Tyr924Ter) c.2769T>G (p.Tyr923Ter) c.2706T>G (p.Tyr902Ter) c.2634T>G (p.Tyr878Ter) c.2574T>G (p.Tyr858Ter) c.2106T>G (p.Tyr702Ter) c.2049T>G (p.Tyr683Ter) c.2712T>G (p.Tyr904Ter) c.2703T>G (p.Tyr901Ter) c.2631T>G (p.Tyr877Ter) c.2508T>G (p.Tyr836Ter) c.2136T>G (p.Tyr712Ter) c.1926T>G (p.Tyr642Ter) c.1923T>G (p.Tyr641Ter) c.2241T>G (p.Tyr747Ter) | gnomAD v4 |
2 | g.24824468A>G | CA425172188 | ADCY3 | c.2649T>C (p.Tyr883=) c.2646T>C (p.Tyr882=) c.1587T>C (p.Tyr529=) c.2715T>C (p.Tyr905=) c.2772T>C (p.Tyr924=) c.2769T>C (p.Tyr923=) c.2706T>C (p.Tyr902=) c.2634T>C (p.Tyr878=) c.2574T>C (p.Tyr858=) c.2106T>C (p.Tyr702=) c.2049T>C (p.Tyr683=) c.2712T>C (p.Tyr904=) c.2703T>C (p.Tyr901=) c.2631T>C (p.Tyr877=) c.2508T>C (p.Tyr836=) c.2136T>C (p.Tyr712=) c.1926T>C (p.Tyr642=) c.1923T>C (p.Tyr641=) c.2241T>C (p.Tyr747=) | dbSNP |
2 | g.24824468A>T | CA346063691 | ADCY3 | c.2649T>A (p.Tyr883Ter) c.2646T>A (p.Tyr882Ter) c.1587T>A (p.Tyr529Ter) c.2715T>A (p.Tyr905Ter) c.2772T>A (p.Tyr924Ter) c.2769T>A (p.Tyr923Ter) c.2706T>A (p.Tyr902Ter) c.2634T>A (p.Tyr878Ter) c.2574T>A (p.Tyr858Ter) c.2106T>A (p.Tyr702Ter) c.2049T>A (p.Tyr683Ter) c.2712T>A (p.Tyr904Ter) c.2703T>A (p.Tyr901Ter) c.2631T>A (p.Tyr877Ter) c.2508T>A (p.Tyr836Ter) c.2136T>A (p.Tyr712Ter) c.1926T>A (p.Tyr642Ter) c.1923T>A (p.Tyr641Ter) c.2241T>A (p.Tyr747Ter) | |
2 | g.24824469_24824470del | CA2658140005 | ADCY3 | c.2648_2649del (p.Tyr883Ter) c.2645_2646del (p.Tyr882Ter) c.1586_1587del (p.Tyr529Ter) c.2714_2715del (p.Tyr905Ter) c.2771_2772del (p.Tyr924Ter) c.2768_2769del (p.Tyr923Ter) c.2705_2706del (p.Tyr902Ter) c.2633_2634del (p.Tyr878Ter) c.2573_2574del (p.Tyr858Ter) c.2105_2106del (p.Tyr702Ter) c.2048_2049del (p.Tyr683Ter) c.2711_2712del (p.Tyr904Ter) c.2702_2703del (p.Tyr901Ter) c.2630_2631del (p.Tyr877Ter) c.2507_2508del (p.Tyr836Ter) c.2135_2136del (p.Tyr712Ter) c.1925_1926del (p.Tyr642Ter) c.1922_1923del (p.Tyr641Ter) c.2240_2241del (p.Tyr747Ter) | gnomAD v4 |
2 | g.24824469T>A | CA346063692 | ADCY3 | c.2648A>T (p.Tyr883Phe) c.2645A>T (p.Tyr882Phe) c.1586A>T (p.Tyr529Phe) c.2714A>T (p.Tyr905Phe) c.2771A>T (p.Tyr924Phe) c.2768A>T (p.Tyr923Phe) c.2705A>T (p.Tyr902Phe) c.2633A>T (p.Tyr878Phe) c.2573A>T (p.Tyr858Phe) c.2105A>T (p.Tyr702Phe) c.2048A>T (p.Tyr683Phe) c.2711A>T (p.Tyr904Phe) c.2702A>T (p.Tyr901Phe) c.2630A>T (p.Tyr877Phe) c.2507A>T (p.Tyr836Phe) c.2135A>T (p.Tyr712Phe) c.1925A>T (p.Tyr642Phe) c.1922A>T (p.Tyr641Phe) c.2240A>T (p.Tyr747Phe) | |
2 | g.24824469T>C | CA346063695 | ADCY3 | c.2648A>G (p.Tyr883Cys) c.2645A>G (p.Tyr882Cys) c.1586A>G (p.Tyr529Cys) c.2714A>G (p.Tyr905Cys) c.2771A>G (p.Tyr924Cys) c.2768A>G (p.Tyr923Cys) c.2705A>G (p.Tyr902Cys) c.2633A>G (p.Tyr878Cys) c.2573A>G (p.Tyr858Cys) c.2105A>G (p.Tyr702Cys) c.2048A>G (p.Tyr683Cys) c.2711A>G (p.Tyr904Cys) c.2702A>G (p.Tyr901Cys) c.2630A>G (p.Tyr877Cys) c.2507A>G (p.Tyr836Cys) c.2135A>G (p.Tyr712Cys) c.1925A>G (p.Tyr642Cys) c.1922A>G (p.Tyr641Cys) c.2240A>G (p.Tyr747Cys) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.24824469T>G | CA346063694 | ADCY3 | c.2648A>C (p.Tyr883Ser) c.2645A>C (p.Tyr882Ser) c.1586A>C (p.Tyr529Ser) c.2714A>C (p.Tyr905Ser) c.2771A>C (p.Tyr924Ser) c.2768A>C (p.Tyr923Ser) c.2705A>C (p.Tyr902Ser) c.2633A>C (p.Tyr878Ser) c.2573A>C (p.Tyr858Ser) c.2105A>C (p.Tyr702Ser) c.2048A>C (p.Tyr683Ser) c.2711A>C (p.Tyr904Ser) c.2702A>C (p.Tyr901Ser) c.2630A>C (p.Tyr877Ser) c.2507A>C (p.Tyr836Ser) c.2135A>C (p.Tyr712Ser) c.1925A>C (p.Tyr642Ser) c.1922A>C (p.Tyr641Ser) c.2240A>C (p.Tyr747Ser) | dbSNP |
2 | g.24824469T= | CA1239072936 | ADCY3 | c.2648A= (p.Tyr883=) c.2645A= (p.Tyr882=) c.1586A= (p.Tyr529=) c.2714A= (p.Tyr905=) c.2771A= (p.Tyr924=) c.2768A= (p.Tyr923=) c.2705A= (p.Tyr902=) c.2633A= (p.Tyr878=) c.2573A= (p.Tyr858=) c.2105A= (p.Tyr702=) c.2048A= (p.Tyr683=) c.2711A= (p.Tyr904=) c.2702A= (p.Tyr901=) c.2630A= (p.Tyr877=) c.2507A= (p.Tyr836=) c.2135A= (p.Tyr712=) c.1925A= (p.Tyr642=) c.1922A= (p.Tyr641=) c.2240A= (p.Tyr747=) | |
2 | g.24824470A= | CA1239072937 | ADCY3 | c.2647T= (p.Tyr883=) c.2644T= (p.Tyr882=) c.1585T= (p.Tyr529=) c.2713T= (p.Tyr905=) c.2770T= (p.Tyr924=) c.2767T= (p.Tyr923=) c.2704T= (p.Tyr902=) c.2632T= (p.Tyr878=) c.2572T= (p.Tyr858=) c.2104T= (p.Tyr702=) c.2047T= (p.Tyr683=) c.2710T= (p.Tyr904=) c.2701T= (p.Tyr901=) c.2629T= (p.Tyr877=) c.2506T= (p.Tyr836=) c.2134T= (p.Tyr712=) c.1924T= (p.Tyr642=) c.1921T= (p.Tyr641=) c.2239T= (p.Tyr747=) | |
2 | g.24824470A>C | CA346063697 | ADCY3 | c.2647T>G (p.Tyr883Asp) c.2644T>G (p.Tyr882Asp) c.1585T>G (p.Tyr529Asp) c.2713T>G (p.Tyr905Asp) c.2770T>G (p.Tyr924Asp) c.2767T>G (p.Tyr923Asp) c.2704T>G (p.Tyr902Asp) c.2632T>G (p.Tyr878Asp) c.2572T>G (p.Tyr858Asp) c.2104T>G (p.Tyr702Asp) c.2047T>G (p.Tyr683Asp) c.2710T>G (p.Tyr904Asp) c.2701T>G (p.Tyr901Asp) c.2629T>G (p.Tyr877Asp) c.2506T>G (p.Tyr836Asp) c.2134T>G (p.Tyr712Asp) c.1924T>G (p.Tyr642Asp) c.1921T>G (p.Tyr641Asp) c.2239T>G (p.Tyr747Asp) | |
2 | g.24824470A>G | CA346063698 | ADCY3 | c.2647T>C (p.Tyr883His) c.2644T>C (p.Tyr882His) c.1585T>C (p.Tyr529His) c.2713T>C (p.Tyr905His) c.2770T>C (p.Tyr924His) c.2767T>C (p.Tyr923His) c.2704T>C (p.Tyr902His) c.2632T>C (p.Tyr878His) c.2572T>C (p.Tyr858His) c.2104T>C (p.Tyr702His) c.2047T>C (p.Tyr683His) c.2710T>C (p.Tyr904His) c.2701T>C (p.Tyr901His) c.2629T>C (p.Tyr877His) c.2506T>C (p.Tyr836His) c.2134T>C (p.Tyr712His) c.1924T>C (p.Tyr642His) c.1921T>C (p.Tyr641His) c.2239T>C (p.Tyr747His) | |
2 | g.24824470A>T | CA1553653 | ADCY3 | c.2647T>A (p.Tyr883Asn) c.2644T>A (p.Tyr882Asn) c.1585T>A (p.Tyr529Asn) c.2713T>A (p.Tyr905Asn) c.2770T>A (p.Tyr924Asn) c.2767T>A (p.Tyr923Asn) c.2704T>A (p.Tyr902Asn) c.2632T>A (p.Tyr878Asn) c.2572T>A (p.Tyr858Asn) c.2104T>A (p.Tyr702Asn) c.2047T>A (p.Tyr683Asn) c.2710T>A (p.Tyr904Asn) c.2701T>A (p.Tyr901Asn) c.2629T>A (p.Tyr877Asn) c.2506T>A (p.Tyr836Asn) c.2134T>A (p.Tyr712Asn) c.1924T>A (p.Tyr642Asn) c.1921T>A (p.Tyr641Asn) c.2239T>A (p.Tyr747Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.24824471G>A | CA1553654 | ADCY3 | c.2646C>T (p.Val882=) c.2643C>T (p.Val881=) c.1584C>T (p.Val528=) c.2712C>T (p.Val904=) c.2769C>T (p.Val923=) c.2766C>T (p.Val922=) c.2703C>T (p.Val901=) c.2631C>T (p.Val877=) c.2571C>T (p.Val857=) c.2103C>T (p.Val701=) c.2046C>T (p.Val682=) c.2709C>T (p.Val903=) c.2700C>T (p.Val900=) c.2628C>T (p.Val876=) c.2505C>T (p.Val835=) c.2133C>T (p.Val711=) c.1923C>T (p.Val641=) c.1920C>T (p.Val640=) c.2238C>T (p.Val746=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |