| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.24823221T>A | CA425171932 | ADCY3 | c.2874A>T (p.Ser958=) c.2871A>T (p.Ser957=) n.143A>T c.1812A>T (p.Ser604=) c.2940A>T (p.Ser980=) c.2997A>T (p.Ser999=) c.2994A>T (p.Ser998=) c.2931A>T (p.Ser977=) c.2859A>T (p.Ser953=) c.2799A>T (p.Ser933=) c.2331A>T (p.Ser777=) c.2274A>T (p.Ser758=) c.2937A>T (p.Ser979=) c.2928A>T (p.Ser976=) c.2856A>T (p.Ser952=) c.2733A>T (p.Ser911=) c.2361A>T (p.Ser787=) c.2151A>T (p.Ser717=) c.2148A>T (p.Ser716=) c.2332-591A>T (n.2332-591A>T) | dbSNP gnomAD v4 |
| 2 | g.24823221T>C | CA1553598 | ADCY3 | c.2874A>G (p.Ser958=) c.2871A>G (p.Ser957=) n.143A>G c.1812A>G (p.Ser604=) c.2940A>G (p.Ser980=) c.2997A>G (p.Ser999=) c.2994A>G (p.Ser998=) c.2931A>G (p.Ser977=) c.2859A>G (p.Ser953=) c.2799A>G (p.Ser933=) c.2331A>G (p.Ser777=) c.2274A>G (p.Ser758=) c.2937A>G (p.Ser979=) c.2928A>G (p.Ser976=) c.2856A>G (p.Ser952=) c.2733A>G (p.Ser911=) c.2361A>G (p.Ser787=) c.2151A>G (p.Ser717=) c.2148A>G (p.Ser716=) c.2332-591A>G (n.2332-591A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.24823221T>G | CA425171934 | ADCY3 | c.2874A>C (p.Ser958=) c.2871A>C (p.Ser957=) n.143A>C c.1812A>C (p.Ser604=) c.2940A>C (p.Ser980=) c.2997A>C (p.Ser999=) c.2994A>C (p.Ser998=) c.2931A>C (p.Ser977=) c.2859A>C (p.Ser953=) c.2799A>C (p.Ser933=) c.2331A>C (p.Ser777=) c.2274A>C (p.Ser758=) c.2937A>C (p.Ser979=) c.2928A>C (p.Ser976=) c.2856A>C (p.Ser952=) c.2733A>C (p.Ser911=) c.2361A>C (p.Ser787=) c.2151A>C (p.Ser717=) c.2148A>C (p.Ser716=) c.2332-591A>C (n.2332-591A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.24823221T= | CA1239072266 | ADCY3 | c.2874A= (p.Ser958=) c.2871A= (p.Ser957=) n.143A= c.1812A= (p.Ser604=) c.2940A= (p.Ser980=) c.2997A= (p.Ser999=) c.2994A= (p.Ser998=) c.2931A= (p.Ser977=) c.2859A= (p.Ser953=) c.2799A= (p.Ser933=) c.2331A= (p.Ser777=) c.2274A= (p.Ser758=) c.2937A= (p.Ser979=) c.2928A= (p.Ser976=) c.2856A= (p.Ser952=) c.2733A= (p.Ser911=) c.2361A= (p.Ser787=) c.2151A= (p.Ser717=) c.2148A= (p.Ser716=) c.2332-591A= (n.2332-591A=) | |
| 2 | g.24823222G>A | CA1553599 | ADCY3 | c.2873C>T (p.Ser958Leu) c.2870C>T (p.Ser957Leu) n.142C>T c.1811C>T (p.Ser604Leu) c.2939C>T (p.Ser980Leu) c.2996C>T (p.Ser999Leu) c.2993C>T (p.Ser998Leu) c.2930C>T (p.Ser977Leu) c.2858C>T (p.Ser953Leu) c.2798C>T (p.Ser933Leu) c.2330C>T (p.Ser777Leu) c.2273C>T (p.Ser758Leu) c.2936C>T (p.Ser979Leu) c.2927C>T (p.Ser976Leu) c.2855C>T (p.Ser952Leu) c.2732C>T (p.Ser911Leu) c.2360C>T (p.Ser787Leu) c.2150C>T (p.Ser717Leu) c.2147C>T (p.Ser716Leu) c.2332-592C>T (n.2332-592C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.24823222G>C | CA346062492 | ADCY3 | c.2873C>G (p.Ser958Ter) c.2870C>G (p.Ser957Ter) n.142C>G c.1811C>G (p.Ser604Ter) c.2939C>G (p.Ser980Ter) c.2996C>G (p.Ser999Ter) c.2993C>G (p.Ser998Ter) c.2930C>G (p.Ser977Ter) c.2858C>G (p.Ser953Ter) c.2798C>G (p.Ser933Ter) c.2330C>G (p.Ser777Ter) c.2273C>G (p.Ser758Ter) c.2936C>G (p.Ser979Ter) c.2927C>G (p.Ser976Ter) c.2855C>G (p.Ser952Ter) c.2732C>G (p.Ser911Ter) c.2360C>G (p.Ser787Ter) c.2150C>G (p.Ser717Ter) c.2147C>G (p.Ser716Ter) c.2332-592C>G (n.2332-592C>G) | |
| 2 | g.24823222G= | CA1239072267 | ADCY3 | c.2873C= (p.Ser958=) c.2870C= (p.Ser957=) n.142C= c.1811C= (p.Ser604=) c.2939C= (p.Ser980=) c.2996C= (p.Ser999=) c.2993C= (p.Ser998=) c.2930C= (p.Ser977=) c.2858C= (p.Ser953=) c.2798C= (p.Ser933=) c.2330C= (p.Ser777=) c.2273C= (p.Ser758=) c.2936C= (p.Ser979=) c.2927C= (p.Ser976=) c.2855C= (p.Ser952=) c.2732C= (p.Ser911=) c.2360C= (p.Ser787=) c.2150C= (p.Ser717=) c.2147C= (p.Ser716=) c.2332-592C= (n.2332-592C=) | |
| 2 | g.24823222G>T | CA346062494 | ADCY3 | c.2873C>A (p.Ser958Ter) c.2870C>A (p.Ser957Ter) n.142C>A c.1811C>A (p.Ser604Ter) c.2939C>A (p.Ser980Ter) c.2996C>A (p.Ser999Ter) c.2993C>A (p.Ser998Ter) c.2930C>A (p.Ser977Ter) c.2858C>A (p.Ser953Ter) c.2798C>A (p.Ser933Ter) c.2330C>A (p.Ser777Ter) c.2273C>A (p.Ser758Ter) c.2936C>A (p.Ser979Ter) c.2927C>A (p.Ser976Ter) c.2855C>A (p.Ser952Ter) c.2732C>A (p.Ser911Ter) c.2360C>A (p.Ser787Ter) c.2150C>A (p.Ser717Ter) c.2147C>A (p.Ser716Ter) c.2332-592C>A (n.2332-592C>A) | |
| 2 | g.24823223A>C | CA346062496 | ADCY3 | c.2872T>G (p.Ser958Ala) c.2869T>G (p.Ser957Ala) n.141T>G c.1810T>G (p.Ser604Ala) c.2938T>G (p.Ser980Ala) c.2995T>G (p.Ser999Ala) c.2992T>G (p.Ser998Ala) c.2929T>G (p.Ser977Ala) c.2857T>G (p.Ser953Ala) c.2797T>G (p.Ser933Ala) c.2329T>G (p.Ser777Ala) c.2272T>G (p.Ser758Ala) c.2935T>G (p.Ser979Ala) c.2926T>G (p.Ser976Ala) c.2854T>G (p.Ser952Ala) c.2731T>G (p.Ser911Ala) c.2359T>G (p.Ser787Ala) c.2149T>G (p.Ser717Ala) c.2146T>G (p.Ser716Ala) c.2332-593T>G (n.2332-593T>G) | |
| 2 | g.24823223A>G | CA346062497 | ADCY3 | c.2872T>C (p.Ser958Pro) c.2869T>C (p.Ser957Pro) n.141T>C c.1810T>C (p.Ser604Pro) c.2938T>C (p.Ser980Pro) c.2995T>C (p.Ser999Pro) c.2992T>C (p.Ser998Pro) c.2929T>C (p.Ser977Pro) c.2857T>C (p.Ser953Pro) c.2797T>C (p.Ser933Pro) c.2329T>C (p.Ser777Pro) c.2272T>C (p.Ser758Pro) c.2935T>C (p.Ser979Pro) c.2926T>C (p.Ser976Pro) c.2854T>C (p.Ser952Pro) c.2731T>C (p.Ser911Pro) c.2359T>C (p.Ser787Pro) c.2149T>C (p.Ser717Pro) c.2146T>C (p.Ser716Pro) c.2332-593T>C (n.2332-593T>C) | |
| 2 | g.24823223A>T | CA346062499 | ADCY3 | c.2872T>A (p.Ser958Thr) c.2869T>A (p.Ser957Thr) n.141T>A c.1810T>A (p.Ser604Thr) c.2938T>A (p.Ser980Thr) c.2995T>A (p.Ser999Thr) c.2992T>A (p.Ser998Thr) c.2929T>A (p.Ser977Thr) c.2857T>A (p.Ser953Thr) c.2797T>A (p.Ser933Thr) c.2329T>A (p.Ser777Thr) c.2272T>A (p.Ser758Thr) c.2935T>A (p.Ser979Thr) c.2926T>A (p.Ser976Thr) c.2854T>A (p.Ser952Thr) c.2731T>A (p.Ser911Thr) c.2359T>A (p.Ser787Thr) c.2149T>A (p.Ser717Thr) c.2146T>A (p.Ser716Thr) c.2332-593T>A (n.2332-593T>A) | |
| 2 | g.24823224G>A | CA1553600 | ADCY3 | c.2871C>T (p.Ile957=) c.2868C>T (p.Ile956=) n.140C>T c.1809C>T (p.Ile603=) c.2937C>T (p.Ile979=) c.2994C>T (p.Ile998=) c.2991C>T (p.Ile997=) c.2928C>T (p.Ile976=) c.2856C>T (p.Ile952=) c.2796C>T (p.Ile932=) c.2328C>T (p.Ile776=) c.2271C>T (p.Ile757=) c.2934C>T (p.Ile978=) c.2925C>T (p.Ile975=) c.2853C>T (p.Ile951=) c.2730C>T (p.Ile910=) c.2358C>T (p.Ile786=) c.2148C>T (p.Ile716=) c.2145C>T (p.Ile715=) c.2332-594C>T (n.2332-594C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.24823224G>C | CA346062501 | ADCY3 | c.2871C>G (p.Ile957Met) c.2868C>G (p.Ile956Met) n.140C>G c.1809C>G (p.Ile603Met) c.2937C>G (p.Ile979Met) c.2994C>G (p.Ile998Met) c.2991C>G (p.Ile997Met) c.2928C>G (p.Ile976Met) c.2856C>G (p.Ile952Met) c.2796C>G (p.Ile932Met) c.2328C>G (p.Ile776Met) c.2271C>G (p.Ile757Met) c.2934C>G (p.Ile978Met) c.2925C>G (p.Ile975Met) c.2853C>G (p.Ile951Met) c.2730C>G (p.Ile910Met) c.2358C>G (p.Ile786Met) c.2148C>G (p.Ile716Met) c.2145C>G (p.Ile715Met) c.2332-594C>G (n.2332-594C>G) | |
| 2 | g.24823224G= | CA1239072268 | ADCY3 | c.2871C= (p.Ile957=) c.2868C= (p.Ile956=) n.140C= c.1809C= (p.Ile603=) c.2937C= (p.Ile979=) c.2994C= (p.Ile998=) c.2991C= (p.Ile997=) c.2928C= (p.Ile976=) c.2856C= (p.Ile952=) c.2796C= (p.Ile932=) c.2328C= (p.Ile776=) c.2271C= (p.Ile757=) c.2934C= (p.Ile978=) c.2925C= (p.Ile975=) c.2853C= (p.Ile951=) c.2730C= (p.Ile910=) c.2358C= (p.Ile786=) c.2148C= (p.Ile716=) c.2145C= (p.Ile715=) c.2332-594C= (n.2332-594C=) | |
| 2 | g.24823224G>T | CA425171939 | ADCY3 | c.2871C>A (p.Ile957=) c.2868C>A (p.Ile956=) n.140C>A c.1809C>A (p.Ile603=) c.2937C>A (p.Ile979=) c.2994C>A (p.Ile998=) c.2991C>A (p.Ile997=) c.2928C>A (p.Ile976=) c.2856C>A (p.Ile952=) c.2796C>A (p.Ile932=) c.2328C>A (p.Ile776=) c.2271C>A (p.Ile757=) c.2934C>A (p.Ile978=) c.2925C>A (p.Ile975=) c.2853C>A (p.Ile951=) c.2730C>A (p.Ile910=) c.2358C>A (p.Ile786=) c.2148C>A (p.Ile716=) c.2145C>A (p.Ile715=) c.2332-594C>A (n.2332-594C>A) | |
| 2 | g.24823225A>C | CA346062502 | ADCY3 | c.2870T>G (p.Ile957Ser) c.2867T>G (p.Ile956Ser) n.139T>G c.1808T>G (p.Ile603Ser) c.2936T>G (p.Ile979Ser) c.2993T>G (p.Ile998Ser) c.2990T>G (p.Ile997Ser) c.2927T>G (p.Ile976Ser) c.2855T>G (p.Ile952Ser) c.2795T>G (p.Ile932Ser) c.2327T>G (p.Ile776Ser) c.2270T>G (p.Ile757Ser) c.2933T>G (p.Ile978Ser) c.2924T>G (p.Ile975Ser) c.2852T>G (p.Ile951Ser) c.2729T>G (p.Ile910Ser) c.2357T>G (p.Ile786Ser) c.2147T>G (p.Ile716Ser) c.2144T>G (p.Ile715Ser) c.2332-595T>G (n.2332-595T>G) | |
| 2 | g.24823225A>G | CA346062503 | ADCY3 | c.2870T>C (p.Ile957Thr) c.2867T>C (p.Ile956Thr) n.139T>C c.1808T>C (p.Ile603Thr) c.2936T>C (p.Ile979Thr) c.2993T>C (p.Ile998Thr) c.2990T>C (p.Ile997Thr) c.2927T>C (p.Ile976Thr) c.2855T>C (p.Ile952Thr) c.2795T>C (p.Ile932Thr) c.2327T>C (p.Ile776Thr) c.2270T>C (p.Ile757Thr) c.2933T>C (p.Ile978Thr) c.2924T>C (p.Ile975Thr) c.2852T>C (p.Ile951Thr) c.2729T>C (p.Ile910Thr) c.2357T>C (p.Ile786Thr) c.2147T>C (p.Ile716Thr) c.2144T>C (p.Ile715Thr) c.2332-595T>C (n.2332-595T>C) | |
| 2 | g.24823225A>T | CA346062504 | ADCY3 | c.2870T>A (p.Ile957Asn) c.2867T>A (p.Ile956Asn) n.139T>A c.1808T>A (p.Ile603Asn) c.2936T>A (p.Ile979Asn) c.2993T>A (p.Ile998Asn) c.2990T>A (p.Ile997Asn) c.2927T>A (p.Ile976Asn) c.2855T>A (p.Ile952Asn) c.2795T>A (p.Ile932Asn) c.2327T>A (p.Ile776Asn) c.2270T>A (p.Ile757Asn) c.2933T>A (p.Ile978Asn) c.2924T>A (p.Ile975Asn) c.2852T>A (p.Ile951Asn) c.2729T>A (p.Ile910Asn) c.2357T>A (p.Ile786Asn) c.2147T>A (p.Ile716Asn) c.2144T>A (p.Ile715Asn) c.2332-595T>A (n.2332-595T>A) | |
| 2 | g.24823226T>A | CA346062505 | ADCY3 | c.2869A>T (p.Ile957Phe) c.2866A>T (p.Ile956Phe) n.138A>T c.1807A>T (p.Ile603Phe) c.2935A>T (p.Ile979Phe) c.2992A>T (p.Ile998Phe) c.2989A>T (p.Ile997Phe) c.2926A>T (p.Ile976Phe) c.2854A>T (p.Ile952Phe) c.2794A>T (p.Ile932Phe) c.2326A>T (p.Ile776Phe) c.2269A>T (p.Ile757Phe) c.2932A>T (p.Ile978Phe) c.2923A>T (p.Ile975Phe) c.2851A>T (p.Ile951Phe) c.2728A>T (p.Ile910Phe) c.2356A>T (p.Ile786Phe) c.2146A>T (p.Ile716Phe) c.2143A>T (p.Ile715Phe) c.2332-596A>T (n.2332-596A>T) | |
| 2 | g.24823226T>C | CA346062506 | ADCY3 | c.2869A>G (p.Ile957Val) c.2866A>G (p.Ile956Val) n.138A>G c.1807A>G (p.Ile603Val) c.2935A>G (p.Ile979Val) c.2992A>G (p.Ile998Val) c.2989A>G (p.Ile997Val) c.2926A>G (p.Ile976Val) c.2854A>G (p.Ile952Val) c.2794A>G (p.Ile932Val) c.2326A>G (p.Ile776Val) c.2269A>G (p.Ile757Val) c.2932A>G (p.Ile978Val) c.2923A>G (p.Ile975Val) c.2851A>G (p.Ile951Val) c.2728A>G (p.Ile910Val) c.2356A>G (p.Ile786Val) c.2146A>G (p.Ile716Val) c.2143A>G (p.Ile715Val) c.2332-596A>G (n.2332-596A>G) | dbSNP gnomAD v2 |
| 2 | g.24823226T>G | CA346062507 | ADCY3 | c.2869A>C (p.Ile957Leu) c.2866A>C (p.Ile956Leu) n.138A>C c.1807A>C (p.Ile603Leu) c.2935A>C (p.Ile979Leu) c.2992A>C (p.Ile998Leu) c.2989A>C (p.Ile997Leu) c.2926A>C (p.Ile976Leu) c.2854A>C (p.Ile952Leu) c.2794A>C (p.Ile932Leu) c.2326A>C (p.Ile776Leu) c.2269A>C (p.Ile757Leu) c.2932A>C (p.Ile978Leu) c.2923A>C (p.Ile975Leu) c.2851A>C (p.Ile951Leu) c.2728A>C (p.Ile910Leu) c.2356A>C (p.Ile786Leu) c.2146A>C (p.Ile716Leu) c.2143A>C (p.Ile715Leu) c.2332-596A>C (n.2332-596A>C) | |
| 2 | g.24823226T= | CA1239072269 | ADCY3 | c.2869A= (p.Ile957=) c.2866A= (p.Ile956=) n.138A= c.1807A= (p.Ile603=) c.2935A= (p.Ile979=) c.2992A= (p.Ile998=) c.2989A= (p.Ile997=) c.2926A= (p.Ile976=) c.2854A= (p.Ile952=) c.2794A= (p.Ile932=) c.2326A= (p.Ile776=) c.2269A= (p.Ile757=) c.2932A= (p.Ile978=) c.2923A= (p.Ile975=) c.2851A= (p.Ile951=) c.2728A= (p.Ile910=) c.2356A= (p.Ile786=) c.2146A= (p.Ile716=) c.2143A= (p.Ile715=) c.2332-596A= (n.2332-596A=) | |
| 2 | g.24823227G>A | CA425171940 | ADCY3 | c.2868C>T (p.Ile956=) c.2865C>T (p.Ile955=) n.137C>T c.1806C>T (p.Ile602=) c.2934C>T (p.Ile978=) c.2991C>T (p.Ile997=) c.2988C>T (p.Ile996=) c.2925C>T (p.Ile975=) c.2853C>T (p.Ile951=) c.2793C>T (p.Ile931=) c.2325C>T (p.Ile775=) c.2268C>T (p.Ile756=) c.2931C>T (p.Ile977=) c.2922C>T (p.Ile974=) c.2850C>T (p.Ile950=) c.2727C>T (p.Ile909=) c.2355C>T (p.Ile785=) c.2145C>T (p.Ile715=) c.2142C>T (p.Ile714=) c.2332-597C>T (n.2332-597C>T) | gnomAD v4 |
| 2 | g.24823227G>C | CA346062508 | ADCY3 | c.2868C>G (p.Ile956Met) c.2865C>G (p.Ile955Met) n.137C>G c.1806C>G (p.Ile602Met) c.2934C>G (p.Ile978Met) c.2991C>G (p.Ile997Met) c.2988C>G (p.Ile996Met) c.2925C>G (p.Ile975Met) c.2853C>G (p.Ile951Met) c.2793C>G (p.Ile931Met) c.2325C>G (p.Ile775Met) c.2268C>G (p.Ile756Met) c.2931C>G (p.Ile977Met) c.2922C>G (p.Ile974Met) c.2850C>G (p.Ile950Met) c.2727C>G (p.Ile909Met) c.2355C>G (p.Ile785Met) c.2145C>G (p.Ile715Met) c.2142C>G (p.Ile714Met) c.2332-597C>G (n.2332-597C>G) | |
| 2 | g.24823227G= | CA1239072270 | ADCY3 | c.2868C= (p.Ile956=) c.2865C= (p.Ile955=) n.137C= c.1806C= (p.Ile602=) c.2934C= (p.Ile978=) c.2991C= (p.Ile997=) c.2988C= (p.Ile996=) c.2925C= (p.Ile975=) c.2853C= (p.Ile951=) c.2793C= (p.Ile931=) c.2325C= (p.Ile775=) c.2268C= (p.Ile756=) c.2931C= (p.Ile977=) c.2922C= (p.Ile974=) c.2850C= (p.Ile950=) c.2727C= (p.Ile909=) c.2355C= (p.Ile785=) c.2145C= (p.Ile715=) c.2142C= (p.Ile714=) c.2332-597C= (n.2332-597C=) | |
| 2 | g.24823227G>T | CA43682412 | ADCY3 | c.2868C>A (p.Ile956=) c.2865C>A (p.Ile955=) n.137C>A c.1806C>A (p.Ile602=) c.2934C>A (p.Ile978=) c.2991C>A (p.Ile997=) c.2988C>A (p.Ile996=) c.2925C>A (p.Ile975=) c.2853C>A (p.Ile951=) c.2793C>A (p.Ile931=) c.2325C>A (p.Ile775=) c.2268C>A (p.Ile756=) c.2931C>A (p.Ile977=) c.2922C>A (p.Ile974=) c.2850C>A (p.Ile950=) c.2727C>A (p.Ile909=) c.2355C>A (p.Ile785=) c.2145C>A (p.Ile715=) c.2142C>A (p.Ile714=) c.2332-597C>A (n.2332-597C>A) | dbSNP COSMIC |
| 2 | g.24823228A>C | CA346062511 | ADCY3 | c.2867T>G (p.Ile956Ser) c.2864T>G (p.Ile955Ser) n.136T>G c.1805T>G (p.Ile602Ser) c.2933T>G (p.Ile978Ser) c.2990T>G (p.Ile997Ser) c.2987T>G (p.Ile996Ser) c.2924T>G (p.Ile975Ser) c.2852T>G (p.Ile951Ser) c.2792T>G (p.Ile931Ser) c.2324T>G (p.Ile775Ser) c.2267T>G (p.Ile756Ser) c.2930T>G (p.Ile977Ser) c.2921T>G (p.Ile974Ser) c.2849T>G (p.Ile950Ser) c.2726T>G (p.Ile909Ser) c.2354T>G (p.Ile785Ser) c.2144T>G (p.Ile715Ser) c.2141T>G (p.Ile714Ser) c.2332-598T>G (n.2332-598T>G) | |
| 2 | g.24823228A>G | CA346062510 | ADCY3 | c.2867T>C (p.Ile956Thr) c.2864T>C (p.Ile955Thr) n.136T>C c.1805T>C (p.Ile602Thr) c.2933T>C (p.Ile978Thr) c.2990T>C (p.Ile997Thr) c.2987T>C (p.Ile996Thr) c.2924T>C (p.Ile975Thr) c.2852T>C (p.Ile951Thr) c.2792T>C (p.Ile931Thr) c.2324T>C (p.Ile775Thr) c.2267T>C (p.Ile756Thr) c.2930T>C (p.Ile977Thr) c.2921T>C (p.Ile974Thr) c.2849T>C (p.Ile950Thr) c.2726T>C (p.Ile909Thr) c.2354T>C (p.Ile785Thr) c.2144T>C (p.Ile715Thr) c.2141T>C (p.Ile714Thr) c.2332-598T>C (n.2332-598T>C) | |
| 2 | g.24823228A>T | CA346062509 | ADCY3 | c.2867T>A (p.Ile956Asn) c.2864T>A (p.Ile955Asn) n.136T>A c.1805T>A (p.Ile602Asn) c.2933T>A (p.Ile978Asn) c.2990T>A (p.Ile997Asn) c.2987T>A (p.Ile996Asn) c.2924T>A (p.Ile975Asn) c.2852T>A (p.Ile951Asn) c.2792T>A (p.Ile931Asn) c.2324T>A (p.Ile775Asn) c.2267T>A (p.Ile756Asn) c.2930T>A (p.Ile977Asn) c.2921T>A (p.Ile974Asn) c.2849T>A (p.Ile950Asn) c.2726T>A (p.Ile909Asn) c.2354T>A (p.Ile785Asn) c.2144T>A (p.Ile715Asn) c.2141T>A (p.Ile714Asn) c.2332-598T>A (n.2332-598T>A) | |
| 2 | g.24823229T>A | CA346062515 | ADCY3 | c.2866A>T (p.Ile956Phe) c.2863A>T (p.Ile955Phe) n.135A>T c.1804A>T (p.Ile602Phe) c.2932A>T (p.Ile978Phe) c.2989A>T (p.Ile997Phe) c.2986A>T (p.Ile996Phe) c.2923A>T (p.Ile975Phe) c.2851A>T (p.Ile951Phe) c.2791A>T (p.Ile931Phe) c.2323A>T (p.Ile775Phe) c.2266A>T (p.Ile756Phe) c.2929A>T (p.Ile977Phe) c.2920A>T (p.Ile974Phe) c.2848A>T (p.Ile950Phe) c.2725A>T (p.Ile909Phe) c.2353A>T (p.Ile785Phe) c.2143A>T (p.Ile715Phe) c.2140A>T (p.Ile714Phe) c.2332-599A>T (n.2332-599A>T) | |
| 2 | g.24823229T>C | CA346062513 | ADCY3 | c.2866A>G (p.Ile956Val) c.2863A>G (p.Ile955Val) n.135A>G c.1804A>G (p.Ile602Val) c.2932A>G (p.Ile978Val) c.2989A>G (p.Ile997Val) c.2986A>G (p.Ile996Val) c.2923A>G (p.Ile975Val) c.2851A>G (p.Ile951Val) c.2791A>G (p.Ile931Val) c.2323A>G (p.Ile775Val) c.2266A>G (p.Ile756Val) c.2929A>G (p.Ile977Val) c.2920A>G (p.Ile974Val) c.2848A>G (p.Ile950Val) c.2725A>G (p.Ile909Val) c.2353A>G (p.Ile785Val) c.2143A>G (p.Ile715Val) c.2140A>G (p.Ile714Val) c.2332-599A>G (n.2332-599A>G) | |
| 2 | g.24823229T>G | CA346062514 | ADCY3 | c.2866A>C (p.Ile956Leu) c.2863A>C (p.Ile955Leu) n.135A>C c.1804A>C (p.Ile602Leu) c.2932A>C (p.Ile978Leu) c.2989A>C (p.Ile997Leu) c.2986A>C (p.Ile996Leu) c.2923A>C (p.Ile975Leu) c.2851A>C (p.Ile951Leu) c.2791A>C (p.Ile931Leu) c.2323A>C (p.Ile775Leu) c.2266A>C (p.Ile756Leu) c.2929A>C (p.Ile977Leu) c.2920A>C (p.Ile974Leu) c.2848A>C (p.Ile950Leu) c.2725A>C (p.Ile909Leu) c.2353A>C (p.Ile785Leu) c.2143A>C (p.Ile715Leu) c.2140A>C (p.Ile714Leu) c.2332-599A>C (n.2332-599A>C) | |
| 2 | g.24823230T>A | CA346062517 | ADCY3 | c.2865A>T (p.Glu955Asp) c.2862A>T (p.Glu954Asp) n.134A>T c.1803A>T (p.Glu601Asp) c.2931A>T (p.Glu977Asp) c.2988A>T (p.Glu996Asp) c.2985A>T (p.Glu995Asp) c.2922A>T (p.Glu974Asp) c.2850A>T (p.Glu950Asp) c.2790A>T (p.Glu930Asp) c.2322A>T (p.Glu774Asp) c.2265A>T (p.Glu755Asp) c.2928A>T (p.Glu976Asp) c.2919A>T (p.Glu973Asp) c.2847A>T (p.Glu949Asp) c.2724A>T (p.Glu908Asp) c.2352A>T (p.Glu784Asp) c.2142A>T (p.Glu714Asp) c.2139A>T (p.Glu713Asp) c.2332-600A>T (n.2332-600A>T) | COSMIC |
| 2 | g.24823230T>C | CA1553601 | ADCY3 | c.2865A>G (p.Glu955=) c.2862A>G (p.Glu954=) n.134A>G c.1803A>G (p.Glu601=) c.2931A>G (p.Glu977=) c.2988A>G (p.Glu996=) c.2985A>G (p.Glu995=) c.2922A>G (p.Glu974=) c.2850A>G (p.Glu950=) c.2790A>G (p.Glu930=) c.2322A>G (p.Glu774=) c.2265A>G (p.Glu755=) c.2928A>G (p.Glu976=) c.2919A>G (p.Glu973=) c.2847A>G (p.Glu949=) c.2724A>G (p.Glu908=) c.2352A>G (p.Glu784=) c.2142A>G (p.Glu714=) c.2139A>G (p.Glu713=) c.2332-600A>G (n.2332-600A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.24823230T>G | CA346062519 | ADCY3 | c.2865A>C (p.Glu955Asp) c.2862A>C (p.Glu954Asp) n.134A>C c.1803A>C (p.Glu601Asp) c.2931A>C (p.Glu977Asp) c.2988A>C (p.Glu996Asp) c.2985A>C (p.Glu995Asp) c.2922A>C (p.Glu974Asp) c.2850A>C (p.Glu950Asp) c.2790A>C (p.Glu930Asp) c.2322A>C (p.Glu774Asp) c.2265A>C (p.Glu755Asp) c.2928A>C (p.Glu976Asp) c.2919A>C (p.Glu973Asp) c.2847A>C (p.Glu949Asp) c.2724A>C (p.Glu908Asp) c.2352A>C (p.Glu784Asp) c.2142A>C (p.Glu714Asp) c.2139A>C (p.Glu713Asp) c.2332-600A>C (n.2332-600A>C) | |
| 2 | g.24823230T= | CA1239072271 | ADCY3 | c.2865A= (p.Glu955=) c.2862A= (p.Glu954=) n.134A= c.1803A= (p.Glu601=) c.2931A= (p.Glu977=) c.2988A= (p.Glu996=) c.2985A= (p.Glu995=) c.2922A= (p.Glu974=) c.2850A= (p.Glu950=) c.2790A= (p.Glu930=) c.2322A= (p.Glu774=) c.2265A= (p.Glu755=) c.2928A= (p.Glu976=) c.2919A= (p.Glu973=) c.2847A= (p.Glu949=) c.2724A= (p.Glu908=) c.2352A= (p.Glu784=) c.2142A= (p.Glu714=) c.2139A= (p.Glu713=) c.2332-600A= (n.2332-600A=) | |
| 2 | g.24823231T>A | CA346062521 | ADCY3 | c.2864A>T (p.Glu955Val) c.2861A>T (p.Glu954Val) n.133A>T c.1802A>T (p.Glu601Val) c.2930A>T (p.Glu977Val) c.2987A>T (p.Glu996Val) c.2984A>T (p.Glu995Val) c.2921A>T (p.Glu974Val) c.2849A>T (p.Glu950Val) c.2789A>T (p.Glu930Val) c.2321A>T (p.Glu774Val) c.2264A>T (p.Glu755Val) c.2927A>T (p.Glu976Val) c.2918A>T (p.Glu973Val) c.2846A>T (p.Glu949Val) c.2723A>T (p.Glu908Val) c.2351A>T (p.Glu784Val) c.2141A>T (p.Glu714Val) c.2138A>T (p.Glu713Val) c.2332-601A>T (n.2332-601A>T) | |
| 2 | g.24823231T>C | CA346062522 | ADCY3 | c.2864A>G (p.Glu955Gly) c.2861A>G (p.Glu954Gly) n.133A>G c.1802A>G (p.Glu601Gly) c.2930A>G (p.Glu977Gly) c.2987A>G (p.Glu996Gly) c.2984A>G (p.Glu995Gly) c.2921A>G (p.Glu974Gly) c.2849A>G (p.Glu950Gly) c.2789A>G (p.Glu930Gly) c.2321A>G (p.Glu774Gly) c.2264A>G (p.Glu755Gly) c.2927A>G (p.Glu976Gly) c.2918A>G (p.Glu973Gly) c.2846A>G (p.Glu949Gly) c.2723A>G (p.Glu908Gly) c.2351A>G (p.Glu784Gly) c.2141A>G (p.Glu714Gly) c.2138A>G (p.Glu713Gly) c.2332-601A>G (n.2332-601A>G) | |
| 2 | g.24823231T>G | CA346062524 | ADCY3 | c.2864A>C (p.Glu955Ala) c.2861A>C (p.Glu954Ala) n.133A>C c.1802A>C (p.Glu601Ala) c.2930A>C (p.Glu977Ala) c.2987A>C (p.Glu996Ala) c.2984A>C (p.Glu995Ala) c.2921A>C (p.Glu974Ala) c.2849A>C (p.Glu950Ala) c.2789A>C (p.Glu930Ala) c.2321A>C (p.Glu774Ala) c.2264A>C (p.Glu755Ala) c.2927A>C (p.Glu976Ala) c.2918A>C (p.Glu973Ala) c.2846A>C (p.Glu949Ala) c.2723A>C (p.Glu908Ala) c.2351A>C (p.Glu784Ala) c.2141A>C (p.Glu714Ala) c.2138A>C (p.Glu713Ala) c.2332-601A>C (n.2332-601A>C) | |
| 2 | g.24823232C>A | CA346062525 | ADCY3 | c.2863G>T (p.Glu955Ter) c.2860G>T (p.Glu954Ter) n.132G>T c.1801G>T (p.Glu601Ter) c.2929G>T (p.Glu977Ter) c.2986G>T (p.Glu996Ter) c.2983G>T (p.Glu995Ter) c.2920G>T (p.Glu974Ter) c.2848G>T (p.Glu950Ter) c.2788G>T (p.Glu930Ter) c.2320G>T (p.Glu774Ter) c.2263G>T (p.Glu755Ter) c.2926G>T (p.Glu976Ter) c.2917G>T (p.Glu973Ter) c.2845G>T (p.Glu949Ter) c.2722G>T (p.Glu908Ter) c.2350G>T (p.Glu784Ter) c.2140G>T (p.Glu714Ter) c.2137G>T (p.Glu713Ter) c.2332-602G>T (n.2332-602G>T) | COSMIC |
| 2 | g.24823232C>G | CA346062526 | ADCY3 | c.2863G>C (p.Glu955Gln) c.2860G>C (p.Glu954Gln) n.132G>C c.1801G>C (p.Glu601Gln) c.2929G>C (p.Glu977Gln) c.2986G>C (p.Glu996Gln) c.2983G>C (p.Glu995Gln) c.2920G>C (p.Glu974Gln) c.2848G>C (p.Glu950Gln) c.2788G>C (p.Glu930Gln) c.2320G>C (p.Glu774Gln) c.2263G>C (p.Glu755Gln) c.2926G>C (p.Glu976Gln) c.2917G>C (p.Glu973Gln) c.2845G>C (p.Glu949Gln) c.2722G>C (p.Glu908Gln) c.2350G>C (p.Glu784Gln) c.2140G>C (p.Glu714Gln) c.2137G>C (p.Glu713Gln) c.2332-602G>C (n.2332-602G>C) | |
| 2 | g.24823232C>T | CA346062527 | ADCY3 | c.2863G>A (p.Glu955Lys) c.2860G>A (p.Glu954Lys) n.132G>A c.1801G>A (p.Glu601Lys) c.2929G>A (p.Glu977Lys) c.2986G>A (p.Glu996Lys) c.2983G>A (p.Glu995Lys) c.2920G>A (p.Glu974Lys) c.2848G>A (p.Glu950Lys) c.2788G>A (p.Glu930Lys) c.2320G>A (p.Glu774Lys) c.2263G>A (p.Glu755Lys) c.2926G>A (p.Glu976Lys) c.2917G>A (p.Glu973Lys) c.2845G>A (p.Glu949Lys) c.2722G>A (p.Glu908Lys) c.2350G>A (p.Glu784Lys) c.2140G>A (p.Glu714Lys) c.2137G>A (p.Glu713Lys) c.2332-602G>A (n.2332-602G>A) | |
| 2 | g.24823233A= | CA1239072272 | ADCY3 | c.2862T= (p.Asn954=) c.2859T= (p.Asn953=) n.131T= c.1800T= (p.Asn600=) c.2928T= (p.Asn976=) c.2985T= (p.Asn995=) c.2982T= (p.Asn994=) c.2919T= (p.Asn973=) c.2847T= (p.Asn949=) c.2787T= (p.Asn929=) c.2319T= (p.Asn773=) c.2262T= (p.Asn754=) c.2925T= (p.Asn975=) c.2916T= (p.Asn972=) c.2844T= (p.Asn948=) c.2721T= (p.Asn907=) c.2349T= (p.Asn783=) c.2139T= (p.Asn713=) c.2136T= (p.Asn712=) c.2332-603T= (n.2332-603T=) | |
| 2 | g.24823233A>C | CA346062528 | ADCY3 | c.2862T>G (p.Asn954Lys) c.2859T>G (p.Asn953Lys) n.131T>G c.1800T>G (p.Asn600Lys) c.2928T>G (p.Asn976Lys) c.2985T>G (p.Asn995Lys) c.2982T>G (p.Asn994Lys) c.2919T>G (p.Asn973Lys) c.2847T>G (p.Asn949Lys) c.2787T>G (p.Asn929Lys) c.2319T>G (p.Asn773Lys) c.2262T>G (p.Asn754Lys) c.2925T>G (p.Asn975Lys) c.2916T>G (p.Asn972Lys) c.2844T>G (p.Asn948Lys) c.2721T>G (p.Asn907Lys) c.2349T>G (p.Asn783Lys) c.2139T>G (p.Asn713Lys) c.2136T>G (p.Asn712Lys) c.2332-603T>G (n.2332-603T>G) | |
| 2 | g.24823233A>G | CA425171945 | ADCY3 | c.2862T>C (p.Asn954=) c.2859T>C (p.Asn953=) n.131T>C c.1800T>C (p.Asn600=) c.2928T>C (p.Asn976=) c.2985T>C (p.Asn995=) c.2982T>C (p.Asn994=) c.2919T>C (p.Asn973=) c.2847T>C (p.Asn949=) c.2787T>C (p.Asn929=) c.2319T>C (p.Asn773=) c.2262T>C (p.Asn754=) c.2925T>C (p.Asn975=) c.2916T>C (p.Asn972=) c.2844T>C (p.Asn948=) c.2721T>C (p.Asn907=) c.2349T>C (p.Asn783=) c.2139T>C (p.Asn713=) c.2136T>C (p.Asn712=) c.2332-603T>C (n.2332-603T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.24823233A>T | CA346062529 | ADCY3 | c.2862T>A (p.Asn954Lys) c.2859T>A (p.Asn953Lys) n.131T>A c.1800T>A (p.Asn600Lys) c.2928T>A (p.Asn976Lys) c.2985T>A (p.Asn995Lys) c.2982T>A (p.Asn994Lys) c.2919T>A (p.Asn973Lys) c.2847T>A (p.Asn949Lys) c.2787T>A (p.Asn929Lys) c.2319T>A (p.Asn773Lys) c.2262T>A (p.Asn754Lys) c.2925T>A (p.Asn975Lys) c.2916T>A (p.Asn972Lys) c.2844T>A (p.Asn948Lys) c.2721T>A (p.Asn907Lys) c.2349T>A (p.Asn783Lys) c.2139T>A (p.Asn713Lys) c.2136T>A (p.Asn712Lys) c.2332-603T>A (n.2332-603T>A) | |
| 2 | g.24823234T>A | CA346062534 | ADCY3 | c.2861A>T (p.Asn954Ile) c.2858A>T (p.Asn953Ile) n.130A>T c.1799A>T (p.Asn600Ile) c.2927A>T (p.Asn976Ile) c.2984A>T (p.Asn995Ile) c.2981A>T (p.Asn994Ile) c.2918A>T (p.Asn973Ile) c.2846A>T (p.Asn949Ile) c.2786A>T (p.Asn929Ile) c.2318A>T (p.Asn773Ile) c.2261A>T (p.Asn754Ile) c.2924A>T (p.Asn975Ile) c.2915A>T (p.Asn972Ile) c.2843A>T (p.Asn948Ile) c.2720A>T (p.Asn907Ile) c.2348A>T (p.Asn783Ile) c.2138A>T (p.Asn713Ile) c.2135A>T (p.Asn712Ile) c.2332-604A>T (n.2332-604A>T) | |
| 2 | g.24823234T>C | CA346062533 | ADCY3 | c.2861A>G (p.Asn954Ser) c.2858A>G (p.Asn953Ser) n.130A>G c.1799A>G (p.Asn600Ser) c.2927A>G (p.Asn976Ser) c.2984A>G (p.Asn995Ser) c.2981A>G (p.Asn994Ser) c.2918A>G (p.Asn973Ser) c.2846A>G (p.Asn949Ser) c.2786A>G (p.Asn929Ser) c.2318A>G (p.Asn773Ser) c.2261A>G (p.Asn754Ser) c.2924A>G (p.Asn975Ser) c.2915A>G (p.Asn972Ser) c.2843A>G (p.Asn948Ser) c.2720A>G (p.Asn907Ser) c.2348A>G (p.Asn783Ser) c.2138A>G (p.Asn713Ser) c.2135A>G (p.Asn712Ser) c.2332-604A>G (n.2332-604A>G) | |
| 2 | g.24823234T>G | CA346062531 | ADCY3 | c.2861A>C (p.Asn954Thr) c.2858A>C (p.Asn953Thr) n.130A>C c.1799A>C (p.Asn600Thr) c.2927A>C (p.Asn976Thr) c.2984A>C (p.Asn995Thr) c.2981A>C (p.Asn994Thr) c.2918A>C (p.Asn973Thr) c.2846A>C (p.Asn949Thr) c.2786A>C (p.Asn929Thr) c.2318A>C (p.Asn773Thr) c.2261A>C (p.Asn754Thr) c.2924A>C (p.Asn975Thr) c.2915A>C (p.Asn972Thr) c.2843A>C (p.Asn948Thr) c.2720A>C (p.Asn907Thr) c.2348A>C (p.Asn783Thr) c.2138A>C (p.Asn713Thr) c.2135A>C (p.Asn712Thr) c.2332-604A>C (n.2332-604A>C) | |
| 2 | g.24823235del | CA2658139569 | ADCY3 | c.2861del (p.Asn954MetfsTer18) c.2858del (p.Asn953MetfsTer18) n.130del c.1799del (p.Asn600MetfsTer18) c.2927del (p.Asn976MetfsTer18) c.2984del (p.Asn995MetfsTer18) c.2981del (p.Asn994MetfsTer18) c.2918del (p.Asn973MetfsTer18) c.2846del (p.Asn949MetfsTer18) c.2786del (p.Asn929MetfsTer18) c.2318del (p.Asn773MetfsTer18) c.2261del (p.Asn754MetfsTer18) c.2924del (p.Asn975MetfsTer18) c.2915del (p.Asn972MetfsTer18) c.2843del (p.Asn948MetfsTer18) c.2720del (p.Asn907MetfsTer18) c.2348del (p.Asn783MetfsTer18) c.2138del (p.Asn713MetfsTer18) c.2135del (p.Asn712MetfsTer18) c.2332-604del (n.2332-604del) | gnomAD v4 |