| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.24824439A>C | CA346063593 | ADCY3 | c.2678T>G (p.Val893Gly) c.2675T>G (p.Val892Gly) c.1616T>G (p.Val539Gly) c.2744T>G (p.Val915Gly) c.2801T>G (p.Val934Gly) c.2798T>G (p.Val933Gly) c.2735T>G (p.Val912Gly) c.2663T>G (p.Val888Gly) c.2603T>G (p.Val868Gly) c.2135T>G (p.Val712Gly) c.2078T>G (p.Val693Gly) c.2741T>G (p.Val914Gly) c.2732T>G (p.Val911Gly) c.2660T>G (p.Val887Gly) c.2537T>G (p.Val846Gly) c.2165T>G (p.Val722Gly) c.1955T>G (p.Val652Gly) c.1952T>G (p.Val651Gly) c.2270T>G (p.Val757Gly) | |
| 2 | g.24824439A>G | CA346063592 | ADCY3 | c.2678T>C (p.Val893Ala) c.2675T>C (p.Val892Ala) c.1616T>C (p.Val539Ala) c.2744T>C (p.Val915Ala) c.2801T>C (p.Val934Ala) c.2798T>C (p.Val933Ala) c.2735T>C (p.Val912Ala) c.2663T>C (p.Val888Ala) c.2603T>C (p.Val868Ala) c.2135T>C (p.Val712Ala) c.2078T>C (p.Val693Ala) c.2741T>C (p.Val914Ala) c.2732T>C (p.Val911Ala) c.2660T>C (p.Val887Ala) c.2537T>C (p.Val846Ala) c.2165T>C (p.Val722Ala) c.1955T>C (p.Val652Ala) c.1952T>C (p.Val651Ala) c.2270T>C (p.Val757Ala) | |
| 2 | g.24824439A>T | CA346063591 | ADCY3 | c.2678T>A (p.Val893Asp) c.2675T>A (p.Val892Asp) c.1616T>A (p.Val539Asp) c.2744T>A (p.Val915Asp) c.2801T>A (p.Val934Asp) c.2798T>A (p.Val933Asp) c.2735T>A (p.Val912Asp) c.2663T>A (p.Val888Asp) c.2603T>A (p.Val868Asp) c.2135T>A (p.Val712Asp) c.2078T>A (p.Val693Asp) c.2741T>A (p.Val914Asp) c.2732T>A (p.Val911Asp) c.2660T>A (p.Val887Asp) c.2537T>A (p.Val846Asp) c.2165T>A (p.Val722Asp) c.1955T>A (p.Val652Asp) c.1952T>A (p.Val651Asp) c.2270T>A (p.Val757Asp) | |
| 2 | g.24824440C>A | CA346063594 | ADCY3 | c.2677G>T (p.Val893Phe) c.2674G>T (p.Val892Phe) c.1615G>T (p.Val539Phe) c.2743G>T (p.Val915Phe) c.2800G>T (p.Val934Phe) c.2797G>T (p.Val933Phe) c.2734G>T (p.Val912Phe) c.2662G>T (p.Val888Phe) c.2602G>T (p.Val868Phe) c.2134G>T (p.Val712Phe) c.2077G>T (p.Val693Phe) c.2740G>T (p.Val914Phe) c.2731G>T (p.Val911Phe) c.2659G>T (p.Val887Phe) c.2536G>T (p.Val846Phe) c.2164G>T (p.Val722Phe) c.1954G>T (p.Val652Phe) c.1951G>T (p.Val651Phe) c.2269G>T (p.Val757Phe) | |
| 2 | g.24824440C= | CA1239072923 | ADCY3 | c.2677G= (p.Val893=) c.2674G= (p.Val892=) c.1615G= (p.Val539=) c.2743G= (p.Val915=) c.2800G= (p.Val934=) c.2797G= (p.Val933=) c.2734G= (p.Val912=) c.2662G= (p.Val888=) c.2602G= (p.Val868=) c.2134G= (p.Val712=) c.2077G= (p.Val693=) c.2740G= (p.Val914=) c.2731G= (p.Val911=) c.2659G= (p.Val887=) c.2536G= (p.Val846=) c.2164G= (p.Val722=) c.1954G= (p.Val652=) c.1951G= (p.Val651=) c.2269G= (p.Val757=) | |
| 2 | g.24824440C>G | CA346063597 | ADCY3 | c.2677G>C (p.Val893Leu) c.2674G>C (p.Val892Leu) c.1615G>C (p.Val539Leu) c.2743G>C (p.Val915Leu) c.2800G>C (p.Val934Leu) c.2797G>C (p.Val933Leu) c.2734G>C (p.Val912Leu) c.2662G>C (p.Val888Leu) c.2602G>C (p.Val868Leu) c.2134G>C (p.Val712Leu) c.2077G>C (p.Val693Leu) c.2740G>C (p.Val914Leu) c.2731G>C (p.Val911Leu) c.2659G>C (p.Val887Leu) c.2536G>C (p.Val846Leu) c.2164G>C (p.Val722Leu) c.1954G>C (p.Val652Leu) c.1951G>C (p.Val651Leu) c.2269G>C (p.Val757Leu) | |
| 2 | g.24824440C>T | CA346063596 | ADCY3 | c.2677G>A (p.Val893Ile) c.2674G>A (p.Val892Ile) c.1615G>A (p.Val539Ile) c.2743G>A (p.Val915Ile) c.2800G>A (p.Val934Ile) c.2797G>A (p.Val933Ile) c.2734G>A (p.Val912Ile) c.2662G>A (p.Val888Ile) c.2602G>A (p.Val868Ile) c.2134G>A (p.Val712Ile) c.2077G>A (p.Val693Ile) c.2740G>A (p.Val914Ile) c.2731G>A (p.Val911Ile) c.2659G>A (p.Val887Ile) c.2536G>A (p.Val846Ile) c.2164G>A (p.Val722Ile) c.1954G>A (p.Val652Ile) c.1951G>A (p.Val651Ile) c.2269G>A (p.Val757Ile) | dbSNP gnomAD v4 |
| 2 | g.24824441C>A | CA346063598 | ADCY3 | c.2676G>T (p.Leu892Phe) c.2673G>T (p.Leu891Phe) c.1614G>T (p.Leu538Phe) c.2742G>T (p.Leu914Phe) c.2799G>T (p.Leu933Phe) c.2796G>T (p.Leu932Phe) c.2733G>T (p.Leu911Phe) c.2661G>T (p.Leu887Phe) c.2601G>T (p.Leu867Phe) c.2133G>T (p.Leu711Phe) c.2076G>T (p.Leu692Phe) c.2739G>T (p.Leu913Phe) c.2730G>T (p.Leu910Phe) c.2658G>T (p.Leu886Phe) c.2535G>T (p.Leu845Phe) c.2163G>T (p.Leu721Phe) c.1953G>T (p.Leu651Phe) c.1950G>T (p.Leu650Phe) c.2268G>T (p.Leu756Phe) | |
| 2 | g.24824441C>G | CA346063599 | ADCY3 | c.2676G>C (p.Leu892Phe) c.2673G>C (p.Leu891Phe) c.1614G>C (p.Leu538Phe) c.2742G>C (p.Leu914Phe) c.2799G>C (p.Leu933Phe) c.2796G>C (p.Leu932Phe) c.2733G>C (p.Leu911Phe) c.2661G>C (p.Leu887Phe) c.2601G>C (p.Leu867Phe) c.2133G>C (p.Leu711Phe) c.2076G>C (p.Leu692Phe) c.2739G>C (p.Leu913Phe) c.2730G>C (p.Leu910Phe) c.2658G>C (p.Leu886Phe) c.2535G>C (p.Leu845Phe) c.2163G>C (p.Leu721Phe) c.1953G>C (p.Leu651Phe) c.1950G>C (p.Leu650Phe) c.2268G>C (p.Leu756Phe) | |
| 2 | g.24824441C>T | CA425172173 | ADCY3 | c.2676G>A (p.Leu892=) c.2673G>A (p.Leu891=) c.1614G>A (p.Leu538=) c.2742G>A (p.Leu914=) c.2799G>A (p.Leu933=) c.2796G>A (p.Leu932=) c.2733G>A (p.Leu911=) c.2661G>A (p.Leu887=) c.2601G>A (p.Leu867=) c.2133G>A (p.Leu711=) c.2076G>A (p.Leu692=) c.2739G>A (p.Leu913=) c.2730G>A (p.Leu910=) c.2658G>A (p.Leu886=) c.2535G>A (p.Leu845=) c.2163G>A (p.Leu721=) c.1953G>A (p.Leu651=) c.1950G>A (p.Leu650=) c.2268G>A (p.Leu756=) | gnomAD v4 |
| 2 | g.24824442A>C | CA346063601 | ADCY3 | c.2675T>G (p.Leu892Trp) c.2672T>G (p.Leu891Trp) c.1613T>G (p.Leu538Trp) c.2741T>G (p.Leu914Trp) c.2798T>G (p.Leu933Trp) c.2795T>G (p.Leu932Trp) c.2732T>G (p.Leu911Trp) c.2660T>G (p.Leu887Trp) c.2600T>G (p.Leu867Trp) c.2132T>G (p.Leu711Trp) c.2075T>G (p.Leu692Trp) c.2738T>G (p.Leu913Trp) c.2729T>G (p.Leu910Trp) c.2657T>G (p.Leu886Trp) c.2534T>G (p.Leu845Trp) c.2162T>G (p.Leu721Trp) c.1952T>G (p.Leu651Trp) c.1949T>G (p.Leu650Trp) c.2267T>G (p.Leu756Trp) | |
| 2 | g.24824442A>G | CA346063603 | ADCY3 | c.2675T>C (p.Leu892Ser) c.2672T>C (p.Leu891Ser) c.1613T>C (p.Leu538Ser) c.2741T>C (p.Leu914Ser) c.2798T>C (p.Leu933Ser) c.2795T>C (p.Leu932Ser) c.2732T>C (p.Leu911Ser) c.2660T>C (p.Leu887Ser) c.2600T>C (p.Leu867Ser) c.2132T>C (p.Leu711Ser) c.2075T>C (p.Leu692Ser) c.2738T>C (p.Leu913Ser) c.2729T>C (p.Leu910Ser) c.2657T>C (p.Leu886Ser) c.2534T>C (p.Leu845Ser) c.2162T>C (p.Leu721Ser) c.1952T>C (p.Leu651Ser) c.1949T>C (p.Leu650Ser) c.2267T>C (p.Leu756Ser) | gnomAD v4 |
| 2 | g.24824442A>T | CA346063604 | ADCY3 | c.2675T>A (p.Leu892Ter) c.2672T>A (p.Leu891Ter) c.1613T>A (p.Leu538Ter) c.2741T>A (p.Leu914Ter) c.2798T>A (p.Leu933Ter) c.2795T>A (p.Leu932Ter) c.2732T>A (p.Leu911Ter) c.2660T>A (p.Leu887Ter) c.2600T>A (p.Leu867Ter) c.2132T>A (p.Leu711Ter) c.2075T>A (p.Leu692Ter) c.2738T>A (p.Leu913Ter) c.2729T>A (p.Leu910Ter) c.2657T>A (p.Leu886Ter) c.2534T>A (p.Leu845Ter) c.2162T>A (p.Leu721Ter) c.1952T>A (p.Leu651Ter) c.1949T>A (p.Leu650Ter) c.2267T>A (p.Leu756Ter) | |
| 2 | g.24824443A>C | CA346063606 | ADCY3 | c.2674T>G (p.Leu892Val) c.2671T>G (p.Leu891Val) c.1612T>G (p.Leu538Val) c.2740T>G (p.Leu914Val) c.2797T>G (p.Leu933Val) c.2794T>G (p.Leu932Val) c.2731T>G (p.Leu911Val) c.2659T>G (p.Leu887Val) c.2599T>G (p.Leu867Val) c.2131T>G (p.Leu711Val) c.2074T>G (p.Leu692Val) c.2737T>G (p.Leu913Val) c.2728T>G (p.Leu910Val) c.2656T>G (p.Leu886Val) c.2533T>G (p.Leu845Val) c.2161T>G (p.Leu721Val) c.1951T>G (p.Leu651Val) c.1948T>G (p.Leu650Val) c.2266T>G (p.Leu756Val) | |
| 2 | g.24824443A>G | CA425172176 | ADCY3 | c.2674T>C (p.Leu892=) c.2671T>C (p.Leu891=) c.1612T>C (p.Leu538=) c.2740T>C (p.Leu914=) c.2797T>C (p.Leu933=) c.2794T>C (p.Leu932=) c.2731T>C (p.Leu911=) c.2659T>C (p.Leu887=) c.2599T>C (p.Leu867=) c.2131T>C (p.Leu711=) c.2074T>C (p.Leu692=) c.2737T>C (p.Leu913=) c.2728T>C (p.Leu910=) c.2656T>C (p.Leu886=) c.2533T>C (p.Leu845=) c.2161T>C (p.Leu721=) c.1951T>C (p.Leu651=) c.1948T>C (p.Leu650=) c.2266T>C (p.Leu756=) | |
| 2 | g.24824443A>T | CA346063607 | ADCY3 | c.2674T>A (p.Leu892Met) c.2671T>A (p.Leu891Met) c.1612T>A (p.Leu538Met) c.2740T>A (p.Leu914Met) c.2797T>A (p.Leu933Met) c.2794T>A (p.Leu932Met) c.2731T>A (p.Leu911Met) c.2659T>A (p.Leu887Met) c.2599T>A (p.Leu867Met) c.2131T>A (p.Leu711Met) c.2074T>A (p.Leu692Met) c.2737T>A (p.Leu913Met) c.2728T>A (p.Leu910Met) c.2656T>A (p.Leu886Met) c.2533T>A (p.Leu845Met) c.2161T>A (p.Leu721Met) c.1951T>A (p.Leu651Met) c.1948T>A (p.Leu650Met) c.2266T>A (p.Leu756Met) | |
| 2 | g.24824444G>A | CA425172177 | ADCY3 | c.2673C>T (p.Ala891=) c.2670C>T (p.Ala890=) c.1611C>T (p.Ala537=) c.2739C>T (p.Ala913=) c.2796C>T (p.Ala932=) c.2793C>T (p.Ala931=) c.2730C>T (p.Ala910=) c.2658C>T (p.Ala886=) c.2598C>T (p.Ala866=) c.2130C>T (p.Ala710=) c.2073C>T (p.Ala691=) c.2736C>T (p.Ala912=) c.2727C>T (p.Ala909=) c.2655C>T (p.Ala885=) c.2532C>T (p.Ala844=) c.2160C>T (p.Ala720=) c.1950C>T (p.Ala650=) c.1947C>T (p.Ala649=) c.2265C>T (p.Ala755=) | |
| 2 | g.24824444G>C | CA425172178 | ADCY3 | c.2673C>G (p.Ala891=) c.2670C>G (p.Ala890=) c.1611C>G (p.Ala537=) c.2739C>G (p.Ala913=) c.2796C>G (p.Ala932=) c.2793C>G (p.Ala931=) c.2730C>G (p.Ala910=) c.2658C>G (p.Ala886=) c.2598C>G (p.Ala866=) c.2130C>G (p.Ala710=) c.2073C>G (p.Ala691=) c.2736C>G (p.Ala912=) c.2727C>G (p.Ala909=) c.2655C>G (p.Ala885=) c.2532C>G (p.Ala844=) c.2160C>G (p.Ala720=) c.1950C>G (p.Ala650=) c.1947C>G (p.Ala649=) c.2265C>G (p.Ala755=) | gnomAD v4 COSMIC |
| 2 | g.24824444G>T | CA425172179 | ADCY3 | c.2673C>A (p.Ala891=) c.2670C>A (p.Ala890=) c.1611C>A (p.Ala537=) c.2739C>A (p.Ala913=) c.2796C>A (p.Ala932=) c.2793C>A (p.Ala931=) c.2730C>A (p.Ala910=) c.2658C>A (p.Ala886=) c.2598C>A (p.Ala866=) c.2130C>A (p.Ala710=) c.2073C>A (p.Ala691=) c.2736C>A (p.Ala912=) c.2727C>A (p.Ala909=) c.2655C>A (p.Ala885=) c.2532C>A (p.Ala844=) c.2160C>A (p.Ala720=) c.1950C>A (p.Ala650=) c.1947C>A (p.Ala649=) c.2265C>A (p.Ala755=) | |
| 2 | g.24824445G>A | CA346063609 | ADCY3 | c.2672C>T (p.Ala891Val) c.2669C>T (p.Ala890Val) c.1610C>T (p.Ala537Val) c.2738C>T (p.Ala913Val) c.2795C>T (p.Ala932Val) c.2792C>T (p.Ala931Val) c.2729C>T (p.Ala910Val) c.2657C>T (p.Ala886Val) c.2597C>T (p.Ala866Val) c.2129C>T (p.Ala710Val) c.2072C>T (p.Ala691Val) c.2735C>T (p.Ala912Val) c.2726C>T (p.Ala909Val) c.2654C>T (p.Ala885Val) c.2531C>T (p.Ala844Val) c.2159C>T (p.Ala720Val) c.1949C>T (p.Ala650Val) c.1946C>T (p.Ala649Val) c.2264C>T (p.Ala755Val) | dbSNP |
| 2 | g.24824445G>C | CA346063610 | ADCY3 | c.2672C>G (p.Ala891Gly) c.2669C>G (p.Ala890Gly) c.1610C>G (p.Ala537Gly) c.2738C>G (p.Ala913Gly) c.2795C>G (p.Ala932Gly) c.2792C>G (p.Ala931Gly) c.2729C>G (p.Ala910Gly) c.2657C>G (p.Ala886Gly) c.2597C>G (p.Ala866Gly) c.2129C>G (p.Ala710Gly) c.2072C>G (p.Ala691Gly) c.2735C>G (p.Ala912Gly) c.2726C>G (p.Ala909Gly) c.2654C>G (p.Ala885Gly) c.2531C>G (p.Ala844Gly) c.2159C>G (p.Ala720Gly) c.1949C>G (p.Ala650Gly) c.1946C>G (p.Ala649Gly) c.2264C>G (p.Ala755Gly) | |
| 2 | g.24824445G= | CA1239072924 | ADCY3 | c.2672C= (p.Ala891=) c.2669C= (p.Ala890=) c.1610C= (p.Ala537=) c.2738C= (p.Ala913=) c.2795C= (p.Ala932=) c.2792C= (p.Ala931=) c.2729C= (p.Ala910=) c.2657C= (p.Ala886=) c.2597C= (p.Ala866=) c.2129C= (p.Ala710=) c.2072C= (p.Ala691=) c.2735C= (p.Ala912=) c.2726C= (p.Ala909=) c.2654C= (p.Ala885=) c.2531C= (p.Ala844=) c.2159C= (p.Ala720=) c.1949C= (p.Ala650=) c.1946C= (p.Ala649=) c.2264C= (p.Ala755=) | |
| 2 | g.24824445G>T | CA346063612 | ADCY3 | c.2672C>A (p.Ala891Asp) c.2669C>A (p.Ala890Asp) c.1610C>A (p.Ala537Asp) c.2738C>A (p.Ala913Asp) c.2795C>A (p.Ala932Asp) c.2792C>A (p.Ala931Asp) c.2729C>A (p.Ala910Asp) c.2657C>A (p.Ala886Asp) c.2597C>A (p.Ala866Asp) c.2129C>A (p.Ala710Asp) c.2072C>A (p.Ala691Asp) c.2735C>A (p.Ala912Asp) c.2726C>A (p.Ala909Asp) c.2654C>A (p.Ala885Asp) c.2531C>A (p.Ala844Asp) c.2159C>A (p.Ala720Asp) c.1949C>A (p.Ala650Asp) c.1946C>A (p.Ala649Asp) c.2264C>A (p.Ala755Asp) | |
| 2 | g.24824446C>A | CA346063614 | ADCY3 | c.2671G>T (p.Ala891Ser) c.2668G>T (p.Ala890Ser) c.1609G>T (p.Ala537Ser) c.2737G>T (p.Ala913Ser) c.2794G>T (p.Ala932Ser) c.2791G>T (p.Ala931Ser) c.2728G>T (p.Ala910Ser) c.2656G>T (p.Ala886Ser) c.2596G>T (p.Ala866Ser) c.2128G>T (p.Ala710Ser) c.2071G>T (p.Ala691Ser) c.2734G>T (p.Ala912Ser) c.2725G>T (p.Ala909Ser) c.2653G>T (p.Ala885Ser) c.2530G>T (p.Ala844Ser) c.2158G>T (p.Ala720Ser) c.1948G>T (p.Ala650Ser) c.1945G>T (p.Ala649Ser) c.2263G>T (p.Ala755Ser) | |
| 2 | g.24824446C>G | CA346063615 | ADCY3 | c.2671G>C (p.Ala891Pro) c.2668G>C (p.Ala890Pro) c.1609G>C (p.Ala537Pro) c.2737G>C (p.Ala913Pro) c.2794G>C (p.Ala932Pro) c.2791G>C (p.Ala931Pro) c.2728G>C (p.Ala910Pro) c.2656G>C (p.Ala886Pro) c.2596G>C (p.Ala866Pro) c.2128G>C (p.Ala710Pro) c.2071G>C (p.Ala691Pro) c.2734G>C (p.Ala912Pro) c.2725G>C (p.Ala909Pro) c.2653G>C (p.Ala885Pro) c.2530G>C (p.Ala844Pro) c.2158G>C (p.Ala720Pro) c.1948G>C (p.Ala650Pro) c.1945G>C (p.Ala649Pro) c.2263G>C (p.Ala755Pro) | |
| 2 | g.24824446C>T | CA346063616 | ADCY3 | c.2671G>A (p.Ala891Thr) c.2668G>A (p.Ala890Thr) c.1609G>A (p.Ala537Thr) c.2737G>A (p.Ala913Thr) c.2794G>A (p.Ala932Thr) c.2791G>A (p.Ala931Thr) c.2728G>A (p.Ala910Thr) c.2656G>A (p.Ala886Thr) c.2596G>A (p.Ala866Thr) c.2128G>A (p.Ala710Thr) c.2071G>A (p.Ala691Thr) c.2734G>A (p.Ala912Thr) c.2725G>A (p.Ala909Thr) c.2653G>A (p.Ala885Thr) c.2530G>A (p.Ala844Thr) c.2158G>A (p.Ala720Thr) c.1948G>A (p.Ala650Thr) c.1945G>A (p.Ala649Thr) c.2263G>A (p.Ala755Thr) | gnomAD v4 |
| 2 | g.24824447C>A | CA346063618 | ADCY3 | c.2670G>T (p.Glu890Asp) c.2667G>T (p.Glu889Asp) c.1608G>T (p.Glu536Asp) c.2736G>T (p.Glu912Asp) c.2793G>T (p.Glu931Asp) c.2790G>T (p.Glu930Asp) c.2727G>T (p.Glu909Asp) c.2655G>T (p.Glu885Asp) c.2595G>T (p.Glu865Asp) c.2127G>T (p.Glu709Asp) c.2070G>T (p.Glu690Asp) c.2733G>T (p.Glu911Asp) c.2724G>T (p.Glu908Asp) c.2652G>T (p.Glu884Asp) c.2529G>T (p.Glu843Asp) c.2157G>T (p.Glu719Asp) c.1947G>T (p.Glu649Asp) c.1944G>T (p.Glu648Asp) c.2262G>T (p.Glu754Asp) | |
| 2 | g.24824447C= | CA1239072925 | ADCY3 | c.2670G= (p.Glu890=) c.2667G= (p.Glu889=) c.1608G= (p.Glu536=) c.2736G= (p.Glu912=) c.2793G= (p.Glu931=) c.2790G= (p.Glu930=) c.2727G= (p.Glu909=) c.2655G= (p.Glu885=) c.2595G= (p.Glu865=) c.2127G= (p.Glu709=) c.2070G= (p.Glu690=) c.2733G= (p.Glu911=) c.2724G= (p.Glu908=) c.2652G= (p.Glu884=) c.2529G= (p.Glu843=) c.2157G= (p.Glu719=) c.1947G= (p.Glu649=) c.1944G= (p.Glu648=) c.2262G= (p.Glu754=) | |
| 2 | g.24824447C>G | CA346063619 | ADCY3 | c.2670G>C (p.Glu890Asp) c.2667G>C (p.Glu889Asp) c.1608G>C (p.Glu536Asp) c.2736G>C (p.Glu912Asp) c.2793G>C (p.Glu931Asp) c.2790G>C (p.Glu930Asp) c.2727G>C (p.Glu909Asp) c.2655G>C (p.Glu885Asp) c.2595G>C (p.Glu865Asp) c.2127G>C (p.Glu709Asp) c.2070G>C (p.Glu690Asp) c.2733G>C (p.Glu911Asp) c.2724G>C (p.Glu908Asp) c.2652G>C (p.Glu884Asp) c.2529G>C (p.Glu843Asp) c.2157G>C (p.Glu719Asp) c.1947G>C (p.Glu649Asp) c.1944G>C (p.Glu648Asp) c.2262G>C (p.Glu754Asp) | |
| 2 | g.24824447C>T | CA425172180 | ADCY3 | c.2670G>A (p.Glu890=) c.2667G>A (p.Glu889=) c.1608G>A (p.Glu536=) c.2736G>A (p.Glu912=) c.2793G>A (p.Glu931=) c.2790G>A (p.Glu930=) c.2727G>A (p.Glu909=) c.2655G>A (p.Glu885=) c.2595G>A (p.Glu865=) c.2127G>A (p.Glu709=) c.2070G>A (p.Glu690=) c.2733G>A (p.Glu911=) c.2724G>A (p.Glu908=) c.2652G>A (p.Glu884=) c.2529G>A (p.Glu843=) c.2157G>A (p.Glu719=) c.1947G>A (p.Glu649=) c.1944G>A (p.Glu648=) c.2262G>A (p.Glu754=) | dbSNP |
| 2 | g.24824448T>A | CA346063620 | ADCY3 | c.2669A>T (p.Glu890Val) c.2666A>T (p.Glu889Val) c.1607A>T (p.Glu536Val) c.2735A>T (p.Glu912Val) c.2792A>T (p.Glu931Val) c.2789A>T (p.Glu930Val) c.2726A>T (p.Glu909Val) c.2654A>T (p.Glu885Val) c.2594A>T (p.Glu865Val) c.2126A>T (p.Glu709Val) c.2069A>T (p.Glu690Val) c.2732A>T (p.Glu911Val) c.2723A>T (p.Glu908Val) c.2651A>T (p.Glu884Val) c.2528A>T (p.Glu843Val) c.2156A>T (p.Glu719Val) c.1946A>T (p.Glu649Val) c.1943A>T (p.Glu648Val) c.2261A>T (p.Glu754Val) | |
| 2 | g.24824448T>C | CA346063621 | ADCY3 | c.2669A>G (p.Glu890Gly) c.2666A>G (p.Glu889Gly) c.1607A>G (p.Glu536Gly) c.2735A>G (p.Glu912Gly) c.2792A>G (p.Glu931Gly) c.2789A>G (p.Glu930Gly) c.2726A>G (p.Glu909Gly) c.2654A>G (p.Glu885Gly) c.2594A>G (p.Glu865Gly) c.2126A>G (p.Glu709Gly) c.2069A>G (p.Glu690Gly) c.2732A>G (p.Glu911Gly) c.2723A>G (p.Glu908Gly) c.2651A>G (p.Glu884Gly) c.2528A>G (p.Glu843Gly) c.2156A>G (p.Glu719Gly) c.1946A>G (p.Glu649Gly) c.1943A>G (p.Glu648Gly) c.2261A>G (p.Glu754Gly) | gnomAD v4 |
| 2 | g.24824448T>G | CA346063622 | ADCY3 | c.2669A>C (p.Glu890Ala) c.2666A>C (p.Glu889Ala) c.1607A>C (p.Glu536Ala) c.2735A>C (p.Glu912Ala) c.2792A>C (p.Glu931Ala) c.2789A>C (p.Glu930Ala) c.2726A>C (p.Glu909Ala) c.2654A>C (p.Glu885Ala) c.2594A>C (p.Glu865Ala) c.2126A>C (p.Glu709Ala) c.2069A>C (p.Glu690Ala) c.2732A>C (p.Glu911Ala) c.2723A>C (p.Glu908Ala) c.2651A>C (p.Glu884Ala) c.2528A>C (p.Glu843Ala) c.2156A>C (p.Glu719Ala) c.1946A>C (p.Glu649Ala) c.1943A>C (p.Glu648Ala) c.2261A>C (p.Glu754Ala) | |
| 2 | g.24824449C>A | CA346063623 | ADCY3 | c.2668G>T (p.Glu890Ter) c.2665G>T (p.Glu889Ter) c.1606G>T (p.Glu536Ter) c.2734G>T (p.Glu912Ter) c.2791G>T (p.Glu931Ter) c.2788G>T (p.Glu930Ter) c.2725G>T (p.Glu909Ter) c.2653G>T (p.Glu885Ter) c.2593G>T (p.Glu865Ter) c.2125G>T (p.Glu709Ter) c.2068G>T (p.Glu690Ter) c.2731G>T (p.Glu911Ter) c.2722G>T (p.Glu908Ter) c.2650G>T (p.Glu884Ter) c.2527G>T (p.Glu843Ter) c.2155G>T (p.Glu719Ter) c.1945G>T (p.Glu649Ter) c.1942G>T (p.Glu648Ter) c.2260G>T (p.Glu754Ter) | |
| 2 | g.24824449C= | CA1239072926 | ADCY3 | c.2668G= (p.Glu890=) c.2665G= (p.Glu889=) c.1606G= (p.Glu536=) c.2734G= (p.Glu912=) c.2791G= (p.Glu931=) c.2788G= (p.Glu930=) c.2725G= (p.Glu909=) c.2653G= (p.Glu885=) c.2593G= (p.Glu865=) c.2125G= (p.Glu709=) c.2068G= (p.Glu690=) c.2731G= (p.Glu911=) c.2722G= (p.Glu908=) c.2650G= (p.Glu884=) c.2527G= (p.Glu843=) c.2155G= (p.Glu719=) c.1945G= (p.Glu649=) c.1942G= (p.Glu648=) c.2260G= (p.Glu754=) | |
| 2 | g.24824449C>G | CA346063624 | ADCY3 | c.2668G>C (p.Glu890Gln) c.2665G>C (p.Glu889Gln) c.1606G>C (p.Glu536Gln) c.2734G>C (p.Glu912Gln) c.2791G>C (p.Glu931Gln) c.2788G>C (p.Glu930Gln) c.2725G>C (p.Glu909Gln) c.2653G>C (p.Glu885Gln) c.2593G>C (p.Glu865Gln) c.2125G>C (p.Glu709Gln) c.2068G>C (p.Glu690Gln) c.2731G>C (p.Glu911Gln) c.2722G>C (p.Glu908Gln) c.2650G>C (p.Glu884Gln) c.2527G>C (p.Glu843Gln) c.2155G>C (p.Glu719Gln) c.1945G>C (p.Glu649Gln) c.1942G>C (p.Glu648Gln) c.2260G>C (p.Glu754Gln) | |
| 2 | g.24824449C>T | CA1553650 | ADCY3 | c.2668G>A (p.Glu890Lys) c.2665G>A (p.Glu889Lys) c.1606G>A (p.Glu536Lys) c.2734G>A (p.Glu912Lys) c.2791G>A (p.Glu931Lys) c.2788G>A (p.Glu930Lys) c.2725G>A (p.Glu909Lys) c.2653G>A (p.Glu885Lys) c.2593G>A (p.Glu865Lys) c.2125G>A (p.Glu709Lys) c.2068G>A (p.Glu690Lys) c.2731G>A (p.Glu911Lys) c.2722G>A (p.Glu908Lys) c.2650G>A (p.Glu884Lys) c.2527G>A (p.Glu843Lys) c.2155G>A (p.Glu719Lys) c.1945G>A (p.Glu649Lys) c.1942G>A (p.Glu648Lys) c.2260G>A (p.Glu754Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.24824450G>A | CA43683271 | ADCY3 | c.2667C>T (p.Asn889=) c.2664C>T (p.Asn888=) c.1605C>T (p.Asn535=) c.2733C>T (p.Asn911=) c.2790C>T (p.Asn930=) c.2787C>T (p.Asn929=) c.2724C>T (p.Asn908=) c.2652C>T (p.Asn884=) c.2592C>T (p.Asn864=) c.2124C>T (p.Asn708=) c.2067C>T (p.Asn689=) c.2730C>T (p.Asn910=) c.2721C>T (p.Asn907=) c.2649C>T (p.Asn883=) c.2526C>T (p.Asn842=) c.2154C>T (p.Asn718=) c.1944C>T (p.Asn648=) c.1941C>T (p.Asn647=) c.2259C>T (p.Asn753=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.24824450G>C | CA346063625 | ADCY3 | c.2667C>G (p.Asn889Lys) c.2664C>G (p.Asn888Lys) c.1605C>G (p.Asn535Lys) c.2733C>G (p.Asn911Lys) c.2790C>G (p.Asn930Lys) c.2787C>G (p.Asn929Lys) c.2724C>G (p.Asn908Lys) c.2652C>G (p.Asn884Lys) c.2592C>G (p.Asn864Lys) c.2124C>G (p.Asn708Lys) c.2067C>G (p.Asn689Lys) c.2730C>G (p.Asn910Lys) c.2721C>G (p.Asn907Lys) c.2649C>G (p.Asn883Lys) c.2526C>G (p.Asn842Lys) c.2154C>G (p.Asn718Lys) c.1944C>G (p.Asn648Lys) c.1941C>G (p.Asn647Lys) c.2259C>G (p.Asn753Lys) | |
| 2 | g.24824450G= | CA1239072927 | ADCY3 | c.2667C= (p.Asn889=) c.2664C= (p.Asn888=) c.1605C= (p.Asn535=) c.2733C= (p.Asn911=) c.2790C= (p.Asn930=) c.2787C= (p.Asn929=) c.2724C= (p.Asn908=) c.2652C= (p.Asn884=) c.2592C= (p.Asn864=) c.2124C= (p.Asn708=) c.2067C= (p.Asn689=) c.2730C= (p.Asn910=) c.2721C= (p.Asn907=) c.2649C= (p.Asn883=) c.2526C= (p.Asn842=) c.2154C= (p.Asn718=) c.1944C= (p.Asn648=) c.1941C= (p.Asn647=) c.2259C= (p.Asn753=) | |
| 2 | g.24824450G>T | CA346063626 | ADCY3 | c.2667C>A (p.Asn889Lys) c.2664C>A (p.Asn888Lys) c.1605C>A (p.Asn535Lys) c.2733C>A (p.Asn911Lys) c.2790C>A (p.Asn930Lys) c.2787C>A (p.Asn929Lys) c.2724C>A (p.Asn908Lys) c.2652C>A (p.Asn884Lys) c.2592C>A (p.Asn864Lys) c.2124C>A (p.Asn708Lys) c.2067C>A (p.Asn689Lys) c.2730C>A (p.Asn910Lys) c.2721C>A (p.Asn907Lys) c.2649C>A (p.Asn883Lys) c.2526C>A (p.Asn842Lys) c.2154C>A (p.Asn718Lys) c.1944C>A (p.Asn648Lys) c.1941C>A (p.Asn647Lys) c.2259C>A (p.Asn753Lys) | |
| 2 | g.24824451T>A | CA346063627 | ADCY3 | c.2666A>T (p.Asn889Ile) c.2663A>T (p.Asn888Ile) c.1604A>T (p.Asn535Ile) c.2732A>T (p.Asn911Ile) c.2789A>T (p.Asn930Ile) c.2786A>T (p.Asn929Ile) c.2723A>T (p.Asn908Ile) c.2651A>T (p.Asn884Ile) c.2591A>T (p.Asn864Ile) c.2123A>T (p.Asn708Ile) c.2066A>T (p.Asn689Ile) c.2729A>T (p.Asn910Ile) c.2720A>T (p.Asn907Ile) c.2648A>T (p.Asn883Ile) c.2525A>T (p.Asn842Ile) c.2153A>T (p.Asn718Ile) c.1943A>T (p.Asn648Ile) c.1940A>T (p.Asn647Ile) c.2258A>T (p.Asn753Ile) | |
| 2 | g.24824451T>C | CA346063628 | ADCY3 | c.2666A>G (p.Asn889Ser) c.2663A>G (p.Asn888Ser) c.1604A>G (p.Asn535Ser) c.2732A>G (p.Asn911Ser) c.2789A>G (p.Asn930Ser) c.2786A>G (p.Asn929Ser) c.2723A>G (p.Asn908Ser) c.2651A>G (p.Asn884Ser) c.2591A>G (p.Asn864Ser) c.2123A>G (p.Asn708Ser) c.2066A>G (p.Asn689Ser) c.2729A>G (p.Asn910Ser) c.2720A>G (p.Asn907Ser) c.2648A>G (p.Asn883Ser) c.2525A>G (p.Asn842Ser) c.2153A>G (p.Asn718Ser) c.1943A>G (p.Asn648Ser) c.1940A>G (p.Asn647Ser) c.2258A>G (p.Asn753Ser) | |
| 2 | g.24824451T>G | CA346063629 | ADCY3 | c.2666A>C (p.Asn889Thr) c.2663A>C (p.Asn888Thr) c.1604A>C (p.Asn535Thr) c.2732A>C (p.Asn911Thr) c.2789A>C (p.Asn930Thr) c.2786A>C (p.Asn929Thr) c.2723A>C (p.Asn908Thr) c.2651A>C (p.Asn884Thr) c.2591A>C (p.Asn864Thr) c.2123A>C (p.Asn708Thr) c.2066A>C (p.Asn689Thr) c.2729A>C (p.Asn910Thr) c.2720A>C (p.Asn907Thr) c.2648A>C (p.Asn883Thr) c.2525A>C (p.Asn842Thr) c.2153A>C (p.Asn718Thr) c.1943A>C (p.Asn648Thr) c.1940A>C (p.Asn647Thr) c.2258A>C (p.Asn753Thr) | |
| 2 | g.24824452T>A | CA346063632 | ADCY3 | c.2665A>T (p.Asn889Tyr) c.2662A>T (p.Asn888Tyr) c.1603A>T (p.Asn535Tyr) c.2731A>T (p.Asn911Tyr) c.2788A>T (p.Asn930Tyr) c.2785A>T (p.Asn929Tyr) c.2722A>T (p.Asn908Tyr) c.2650A>T (p.Asn884Tyr) c.2590A>T (p.Asn864Tyr) c.2122A>T (p.Asn708Tyr) c.2065A>T (p.Asn689Tyr) c.2728A>T (p.Asn910Tyr) c.2719A>T (p.Asn907Tyr) c.2647A>T (p.Asn883Tyr) c.2524A>T (p.Asn842Tyr) c.2152A>T (p.Asn718Tyr) c.1942A>T (p.Asn648Tyr) c.1939A>T (p.Asn647Tyr) c.2257A>T (p.Asn753Tyr) | |
| 2 | g.24824452T>C | CA346063631 | ADCY3 | c.2665A>G (p.Asn889Asp) c.2662A>G (p.Asn888Asp) c.1603A>G (p.Asn535Asp) c.2731A>G (p.Asn911Asp) c.2788A>G (p.Asn930Asp) c.2785A>G (p.Asn929Asp) c.2722A>G (p.Asn908Asp) c.2650A>G (p.Asn884Asp) c.2590A>G (p.Asn864Asp) c.2122A>G (p.Asn708Asp) c.2065A>G (p.Asn689Asp) c.2728A>G (p.Asn910Asp) c.2719A>G (p.Asn907Asp) c.2647A>G (p.Asn883Asp) c.2524A>G (p.Asn842Asp) c.2152A>G (p.Asn718Asp) c.1942A>G (p.Asn648Asp) c.1939A>G (p.Asn647Asp) c.2257A>G (p.Asn753Asp) | |
| 2 | g.24824452T>G | CA346063630 | ADCY3 | c.2665A>C (p.Asn889His) c.2662A>C (p.Asn888His) c.1603A>C (p.Asn535His) c.2731A>C (p.Asn911His) c.2788A>C (p.Asn930His) c.2785A>C (p.Asn929His) c.2722A>C (p.Asn908His) c.2650A>C (p.Asn884His) c.2590A>C (p.Asn864His) c.2122A>C (p.Asn708His) c.2065A>C (p.Asn689His) c.2728A>C (p.Asn910His) c.2719A>C (p.Asn907His) c.2647A>C (p.Asn883His) c.2524A>C (p.Asn842His) c.2152A>C (p.Asn718His) c.1942A>C (p.Asn648His) c.1939A>C (p.Asn647His) c.2257A>C (p.Asn753His) | gnomAD v4 |
| 2 | g.24824453C>A | CA346063637 | ADCY3 | c.2664G>T (p.Trp888Cys) c.2661G>T (p.Trp887Cys) c.1602G>T (p.Trp534Cys) c.2730G>T (p.Trp910Cys) c.2787G>T (p.Trp929Cys) c.2784G>T (p.Trp928Cys) c.2721G>T (p.Trp907Cys) c.2649G>T (p.Trp883Cys) c.2589G>T (p.Trp863Cys) c.2121G>T (p.Trp707Cys) c.2064G>T (p.Trp688Cys) c.2727G>T (p.Trp909Cys) c.2718G>T (p.Trp906Cys) c.2646G>T (p.Trp882Cys) c.2523G>T (p.Trp841Cys) c.2151G>T (p.Trp717Cys) c.1941G>T (p.Trp647Cys) c.1938G>T (p.Trp646Cys) c.2256G>T (p.Trp752Cys) | |
| 2 | g.24824453C>G | CA346063634 | ADCY3 | c.2664G>C (p.Trp888Cys) c.2661G>C (p.Trp887Cys) c.1602G>C (p.Trp534Cys) c.2730G>C (p.Trp910Cys) c.2787G>C (p.Trp929Cys) c.2784G>C (p.Trp928Cys) c.2721G>C (p.Trp907Cys) c.2649G>C (p.Trp883Cys) c.2589G>C (p.Trp863Cys) c.2121G>C (p.Trp707Cys) c.2064G>C (p.Trp688Cys) c.2727G>C (p.Trp909Cys) c.2718G>C (p.Trp906Cys) c.2646G>C (p.Trp882Cys) c.2523G>C (p.Trp841Cys) c.2151G>C (p.Trp717Cys) c.1941G>C (p.Trp647Cys) c.1938G>C (p.Trp646Cys) c.2256G>C (p.Trp752Cys) | gnomAD v4 |
| 2 | g.24824453C>T | CA346063636 | ADCY3 | c.2664G>A (p.Trp888Ter) c.2661G>A (p.Trp887Ter) c.1602G>A (p.Trp534Ter) c.2730G>A (p.Trp910Ter) c.2787G>A (p.Trp929Ter) c.2784G>A (p.Trp928Ter) c.2721G>A (p.Trp907Ter) c.2649G>A (p.Trp883Ter) c.2589G>A (p.Trp863Ter) c.2121G>A (p.Trp707Ter) c.2064G>A (p.Trp688Ter) c.2727G>A (p.Trp909Ter) c.2718G>A (p.Trp906Ter) c.2646G>A (p.Trp882Ter) c.2523G>A (p.Trp841Ter) c.2151G>A (p.Trp717Ter) c.1941G>A (p.Trp647Ter) c.1938G>A (p.Trp646Ter) c.2256G>A (p.Trp752Ter) |