Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.123284608_123284614delCA2740094581ADCY5c.2460_*3del (n.[c.2460_*3del;Ter821CysextTer?])
c.2748_*3del (n.[c.2748_*3del;Ter917CysextTer?])
n.2186_2192del
c.3858_3864del (n.[c.3858_3864del;Ter1287CysextTer?])
c.3783_*3del (n.[c.3783_*3del;Ter1262CysextTer?])
c.2733_*3del (n.[c.2733_*3del;Ter912CysextTer?])
n.553_559del
c.2757_*3del (n.[c.2757_*3del;Ter920CysextTer?])
c.3783_3789del (n.[c.3783_3789del;Ter1262CysextTer?])
c.3858_*3del (n.[c.3858_*3del;Ter1287CysextTer?])
c.2808_*3del (n.[c.2808_*3del;Ter937CysextTer?])
c.2535_*3del (n.[c.2535_*3del;Ter846CysextTer?])
c.2859_*3del (n.[c.2859_*3del;Ter954CysextTer?])
c.2769_*3del (n.[c.2769_*3del;Ter924CysextTer?])
c.2760_*3del (n.[c.2760_*3del;Ter921CysextTer?])
 ClinVar
3g.123284610_123284613delCA2573136408ADCY5c.2460_2463del (p.Ter821SerextTer?)
c.2748_2751del (p.Ter917SerextTer?)
n.2186_2189del
c.3858_3861del (p.Ter1287SerextTer?)
c.3783_3786del (p.Ter1262SerextTer?)
c.2733_2736del (p.Ter912SerextTer?)
n.553_556del
c.2757_2760del (p.Ter920SerextTer?)
c.2808_2811del (p.Ter937SerextTer?)
c.2535_2538del (p.Ter846SerextTer?)
c.2859_2862del (p.Ter954SerextTer?)
c.2769_2772del (p.Ter924SerextTer?)
c.2760_2763del (p.Ter921SerextTer?)
 ClinVar dbSNP
3g.123284612C>ACA354221717ADCY5c.2459G>T (p.Ser820Ile)
c.2747G>T (p.Ser916Ile)
n.2185G>T
c.3857G>T (p.Ser1286Ile)
c.3782G>T (p.Ser1261Ile)
c.2732G>T (p.Ser911Ile)
n.552G>T
c.2756G>T (p.Ser919Ile)
c.2807G>T (p.Ser936Ile)
c.2534G>T (p.Ser845Ile)
c.2858G>T (p.Ser953Ile)
c.2768G>T (p.Ser923Ile)
c.2759G>T (p.Ser920Ile)
3g.123284612C>GCA354221719ADCY5c.2459G>C (p.Ser820Thr)
c.2747G>C (p.Ser916Thr)
n.2185G>C
c.3857G>C (p.Ser1286Thr)
c.3782G>C (p.Ser1261Thr)
c.2732G>C (p.Ser911Thr)
n.552G>C
c.2756G>C (p.Ser919Thr)
c.2807G>C (p.Ser936Thr)
c.2534G>C (p.Ser845Thr)
c.2858G>C (p.Ser953Thr)
c.2768G>C (p.Ser923Thr)
c.2759G>C (p.Ser920Thr)
3g.123284612C>TCA354221722ADCY5c.2459G>A (p.Ser820Asn)
c.2747G>A (p.Ser916Asn)
n.2185G>A
c.3857G>A (p.Ser1286Asn)
c.3782G>A (p.Ser1261Asn)
c.2732G>A (p.Ser911Asn)
n.552G>A
c.2756G>A (p.Ser919Asn)
c.2807G>A (p.Ser936Asn)
c.2534G>A (p.Ser845Asn)
c.2858G>A (p.Ser953Asn)
c.2768G>A (p.Ser923Asn)
c.2759G>A (p.Ser920Asn)
3g.123284613T>ACA2576682ADCY5c.2458A>T (p.Ser820Cys)
c.2746A>T (p.Ser916Cys)
n.2184A>T
c.3856A>T (p.Ser1286Cys)
c.3781A>T (p.Ser1261Cys)
c.2731A>T (p.Ser911Cys)
n.551A>T
c.2755A>T (p.Ser919Cys)
c.2806A>T (p.Ser936Cys)
c.2533A>T (p.Ser845Cys)
c.2857A>T (p.Ser953Cys)
c.2767A>T (p.Ser923Cys)
c.2758A>T (p.Ser920Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.123284613T>CCA354221725ADCY5c.2458A>G (p.Ser820Gly)
c.2746A>G (p.Ser916Gly)
n.2184A>G
c.3856A>G (p.Ser1286Gly)
c.3781A>G (p.Ser1261Gly)
c.2731A>G (p.Ser911Gly)
n.551A>G
c.2755A>G (p.Ser919Gly)
c.2806A>G (p.Ser936Gly)
c.2533A>G (p.Ser845Gly)
c.2857A>G (p.Ser953Gly)
c.2767A>G (p.Ser923Gly)
c.2758A>G (p.Ser920Gly)
3g.123284613T>GCA354221726ADCY5c.2458A>C (p.Ser820Arg)
c.2746A>C (p.Ser916Arg)
n.2184A>C
c.3856A>C (p.Ser1286Arg)
c.3781A>C (p.Ser1261Arg)
c.2731A>C (p.Ser911Arg)
n.551A>C
c.2755A>C (p.Ser919Arg)
c.2806A>C (p.Ser936Arg)
c.2533A>C (p.Ser845Arg)
c.2857A>C (p.Ser953Arg)
c.2767A>C (p.Ser923Arg)
c.2758A>C (p.Ser920Arg)
3g.123284613T=CA1398327439ADCY5c.2458A= (p.Ser820=)
c.2746A= (p.Ser916=)
n.2184A=
c.3856A= (p.Ser1286=)
c.3781A= (p.Ser1261=)
c.2731A= (p.Ser911=)
n.551A=
c.2755A= (p.Ser919=)
c.2806A= (p.Ser936=)
c.2533A= (p.Ser845=)
c.2857A= (p.Ser953=)
c.2767A= (p.Ser923=)
c.2758A= (p.Ser920=)
3g.123284614G>ACA435297647ADCY5c.2457C>T (p.Leu819=)
c.2745C>T (p.Leu915=)
n.2183C>T
c.3855C>T (p.Leu1285=)
c.3780C>T (p.Leu1260=)
c.2730C>T (p.Leu910=)
n.550C>T
c.2754C>T (p.Leu918=)
c.2805C>T (p.Leu935=)
c.2532C>T (p.Leu844=)
c.2856C>T (p.Leu952=)
c.2766C>T (p.Leu922=)
c.2757C>T (p.Leu919=)
 gnomAD v4
3g.123284614G>CCA435297648ADCY5c.2457C>G (p.Leu819=)
c.2745C>G (p.Leu915=)
n.2183C>G
c.3855C>G (p.Leu1285=)
c.3780C>G (p.Leu1260=)
c.2730C>G (p.Leu910=)
n.550C>G
c.2754C>G (p.Leu918=)
c.2805C>G (p.Leu935=)
c.2532C>G (p.Leu844=)
c.2856C>G (p.Leu952=)
c.2766C>G (p.Leu922=)
c.2757C>G (p.Leu919=)
 dbSNP
3g.123284614G=CA1398327440ADCY5c.2457C= (p.Leu819=)
c.2745C= (p.Leu915=)
n.2183C=
c.3855C= (p.Leu1285=)
c.3780C= (p.Leu1260=)
c.2730C= (p.Leu910=)
n.550C=
c.2754C= (p.Leu918=)
c.2805C= (p.Leu935=)
c.2532C= (p.Leu844=)
c.2856C= (p.Leu952=)
c.2766C= (p.Leu922=)
c.2757C= (p.Leu919=)
3g.123284614G>TCA435297649ADCY5c.2457C>A (p.Leu819=)
c.2745C>A (p.Leu915=)
n.2183C>A
c.3855C>A (p.Leu1285=)
c.3780C>A (p.Leu1260=)
c.2730C>A (p.Leu910=)
n.550C>A
c.2754C>A (p.Leu918=)
c.2805C>A (p.Leu935=)
c.2532C>A (p.Leu844=)
c.2856C>A (p.Leu952=)
c.2766C>A (p.Leu922=)
c.2757C>A (p.Leu919=)
3g.123284615A=CA1398327441ADCY5c.2456T= (p.Leu819=)
c.2744T= (p.Leu915=)
n.2182T=
c.3854T= (p.Leu1285=)
c.3779T= (p.Leu1260=)
c.2729T= (p.Leu910=)
n.549T=
c.2753T= (p.Leu918=)
c.2804T= (p.Leu935=)
c.2531T= (p.Leu844=)
c.2855T= (p.Leu952=)
c.2765T= (p.Leu922=)
c.2756T= (p.Leu919=)
3g.123284615A>CCA354221729ADCY5c.2456T>G (p.Leu819Arg)
c.2744T>G (p.Leu915Arg)
n.2182T>G
c.3854T>G (p.Leu1285Arg)
c.3779T>G (p.Leu1260Arg)
c.2729T>G (p.Leu910Arg)
n.549T>G
c.2753T>G (p.Leu918Arg)
c.2804T>G (p.Leu935Arg)
c.2531T>G (p.Leu844Arg)
c.2855T>G (p.Leu952Arg)
c.2765T>G (p.Leu922Arg)
c.2756T>G (p.Leu919Arg)
3g.123284615A>GCA354221731ADCY5c.2456T>C (p.Leu819Pro)
c.2744T>C (p.Leu915Pro)
n.2182T>C
c.3854T>C (p.Leu1285Pro)
c.3779T>C (p.Leu1260Pro)
c.2729T>C (p.Leu910Pro)
n.549T>C
c.2753T>C (p.Leu918Pro)
c.2804T>C (p.Leu935Pro)
c.2531T>C (p.Leu844Pro)
c.2855T>C (p.Leu952Pro)
c.2765T>C (p.Leu922Pro)
c.2756T>C (p.Leu919Pro)
 gnomAD v4
3g.123284615A>TCA354221732ADCY5c.2456T>A (p.Leu819His)
c.2744T>A (p.Leu915His)
n.2182T>A
c.3854T>A (p.Leu1285His)
c.3779T>A (p.Leu1260His)
c.2729T>A (p.Leu910His)
n.549T>A
c.2753T>A (p.Leu918His)
c.2804T>A (p.Leu935His)
c.2531T>A (p.Leu844His)
c.2855T>A (p.Leu952His)
c.2765T>A (p.Leu922His)
c.2756T>A (p.Leu919His)
 dbSNP gnomAD v2 gnomAD v4
3g.123284616G>ACA354221736ADCY5c.2455C>T (p.Leu819Phe)
c.2743C>T (p.Leu915Phe)
n.2181C>T
c.3853C>T (p.Leu1285Phe)
c.3778C>T (p.Leu1260Phe)
c.2728C>T (p.Leu910Phe)
n.548C>T
c.2752C>T (p.Leu918Phe)
c.2803C>T (p.Leu935Phe)
c.2530C>T (p.Leu844Phe)
c.2854C>T (p.Leu952Phe)
c.2764C>T (p.Leu922Phe)
c.2755C>T (p.Leu919Phe)
3g.123284616G>CCA354221738ADCY5c.2455C>G (p.Leu819Val)
c.2743C>G (p.Leu915Val)
n.2181C>G
c.3853C>G (p.Leu1285Val)
c.3778C>G (p.Leu1260Val)
c.2728C>G (p.Leu910Val)
n.548C>G
c.2752C>G (p.Leu918Val)
c.2803C>G (p.Leu935Val)
c.2530C>G (p.Leu844Val)
c.2854C>G (p.Leu952Val)
c.2764C>G (p.Leu922Val)
c.2755C>G (p.Leu919Val)
3g.123284616G>TCA354221739ADCY5c.2455C>A (p.Leu819Ile)
c.2743C>A (p.Leu915Ile)
n.2181C>A
c.3853C>A (p.Leu1285Ile)
c.3778C>A (p.Leu1260Ile)
c.2728C>A (p.Leu910Ile)
n.548C>A
c.2752C>A (p.Leu918Ile)
c.2803C>A (p.Leu935Ile)
c.2530C>A (p.Leu844Ile)
c.2854C>A (p.Leu952Ile)
c.2764C>A (p.Leu922Ile)
c.2755C>A (p.Leu919Ile)
3g.123284617C>ACA435297650ADCY5c.2454G>T (p.Pro818=)
c.2742G>T (p.Pro914=)
n.2180G>T
c.3852G>T (p.Pro1284=)
c.3777G>T (p.Pro1259=)
c.2727G>T (p.Pro909=)
n.547G>T
c.2751G>T (p.Pro917=)
c.2802G>T (p.Pro934=)
c.2529G>T (p.Pro843=)
c.2853G>T (p.Pro951=)
c.2763G>T (p.Pro921=)
c.2754G>T (p.Pro918=)
3g.123284617C=CA1398327442ADCY5c.2454G= (p.Pro818=)
c.2742G= (p.Pro914=)
n.2180G=
c.3852G= (p.Pro1284=)
c.3777G= (p.Pro1259=)
c.2727G= (p.Pro909=)
n.547G=
c.2751G= (p.Pro917=)
c.2802G= (p.Pro934=)
c.2529G= (p.Pro843=)
c.2853G= (p.Pro951=)
c.2763G= (p.Pro921=)
c.2754G= (p.Pro918=)
3g.123284617C>GCA435297651ADCY5c.2454G>C (p.Pro818=)
c.2742G>C (p.Pro914=)
n.2180G>C
c.3852G>C (p.Pro1284=)
c.3777G>C (p.Pro1259=)
c.2727G>C (p.Pro909=)
n.547G>C
c.2751G>C (p.Pro917=)
c.2802G>C (p.Pro934=)
c.2529G>C (p.Pro843=)
c.2853G>C (p.Pro951=)
c.2763G>C (p.Pro921=)
c.2754G>C (p.Pro918=)
3g.123284617C>TCA2576683ADCY5c.2454G>A (p.Pro818=)
c.2742G>A (p.Pro914=)
n.2180G>A
c.3852G>A (p.Pro1284=)
c.3777G>A (p.Pro1259=)
c.2727G>A (p.Pro909=)
n.547G>A
c.2751G>A (p.Pro917=)
c.2802G>A (p.Pro934=)
c.2529G>A (p.Pro843=)
c.2853G>A (p.Pro951=)
c.2763G>A (p.Pro921=)
c.2754G>A (p.Pro918=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.123284618G>ACA2576684ADCY5c.2453C>T (p.Pro818Leu)
c.2741C>T (p.Pro914Leu)
n.2179C>T
c.3851C>T (p.Pro1284Leu)
c.3776C>T (p.Pro1259Leu)
c.2726C>T (p.Pro909Leu)
n.546C>T
c.2750C>T (p.Pro917Leu)
c.2801C>T (p.Pro934Leu)
c.2528C>T (p.Pro843Leu)
c.2852C>T (p.Pro951Leu)
c.2762C>T (p.Pro921Leu)
c.2753C>T (p.Pro918Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.123284618G>CCA82899723ADCY5c.2453C>G (p.Pro818Arg)
c.2741C>G (p.Pro914Arg)
n.2179C>G
c.3851C>G (p.Pro1284Arg)
c.3776C>G (p.Pro1259Arg)
c.2726C>G (p.Pro909Arg)
n.546C>G
c.2750C>G (p.Pro917Arg)
c.2801C>G (p.Pro934Arg)
c.2528C>G (p.Pro843Arg)
c.2852C>G (p.Pro951Arg)
c.2762C>G (p.Pro921Arg)
c.2753C>G (p.Pro918Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.123284618G=CA1398327443ADCY5c.2453C= (p.Pro818=)
c.2741C= (p.Pro914=)
n.2179C=
c.3851C= (p.Pro1284=)
c.3776C= (p.Pro1259=)
c.2726C= (p.Pro909=)
n.546C=
c.2750C= (p.Pro917=)
c.2801C= (p.Pro934=)
c.2528C= (p.Pro843=)
c.2852C= (p.Pro951=)
c.2762C= (p.Pro921=)
c.2753C= (p.Pro918=)
3g.123284618G>TCA354221743ADCY5c.2453C>A (p.Pro818Gln)
c.2741C>A (p.Pro914Gln)
n.2179C>A
c.3851C>A (p.Pro1284Gln)
c.3776C>A (p.Pro1259Gln)
c.2726C>A (p.Pro909Gln)
n.546C>A
c.2750C>A (p.Pro917Gln)
c.2801C>A (p.Pro934Gln)
c.2528C>A (p.Pro843Gln)
c.2852C>A (p.Pro951Gln)
c.2762C>A (p.Pro921Gln)
c.2753C>A (p.Pro918Gln)
3g.123284622dupCA545690179ADCY5c.2453dup (p.Leu819AlafsTer?)
c.2741dup (p.Leu915AlafsTer?)
n.2179dup
c.3851dup (p.Leu1285AlafsTer?)
c.3776dup (p.Leu1260AlafsTer?)
c.2726dup (p.Leu910AlafsTer?)
n.546dup
c.2750dup (p.Leu918AlafsTer?)
c.2801dup (p.Leu935AlafsTer?)
c.2528dup (p.Leu844AlafsTer?)
c.2852dup (p.Leu952AlafsTer?)
c.2762dup (p.Leu922AlafsTer?)
c.2753dup (p.Leu919AlafsTer?)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.123284619G>ACA354221745ADCY5c.2452C>T (p.Pro818Ser)
c.2740C>T (p.Pro914Ser)
n.2178C>T
c.3850C>T (p.Pro1284Ser)
c.3775C>T (p.Pro1259Ser)
c.2725C>T (p.Pro909Ser)
n.545C>T
c.2749C>T (p.Pro917Ser)
c.2800C>T (p.Pro934Ser)
c.2527C>T (p.Pro843Ser)
c.2851C>T (p.Pro951Ser)
c.2761C>T (p.Pro921Ser)
c.2752C>T (p.Pro918Ser)
 gnomAD v4
3g.123284619G>CCA354221747ADCY5c.2452C>G (p.Pro818Ala)
c.2740C>G (p.Pro914Ala)
n.2178C>G
c.3850C>G (p.Pro1284Ala)
c.3775C>G (p.Pro1259Ala)
c.2725C>G (p.Pro909Ala)
n.545C>G
c.2749C>G (p.Pro917Ala)
c.2800C>G (p.Pro934Ala)
c.2527C>G (p.Pro843Ala)
c.2851C>G (p.Pro951Ala)
c.2761C>G (p.Pro921Ala)
c.2752C>G (p.Pro918Ala)
3g.123284619G>TCA354221749ADCY5c.2452C>A (p.Pro818Thr)
c.2740C>A (p.Pro914Thr)
n.2178C>A
c.3850C>A (p.Pro1284Thr)
c.3775C>A (p.Pro1259Thr)
c.2725C>A (p.Pro909Thr)
n.545C>A
c.2749C>A (p.Pro917Thr)
c.2800C>A (p.Pro934Thr)
c.2527C>A (p.Pro843Thr)
c.2851C>A (p.Pro951Thr)
c.2761C>A (p.Pro921Thr)
c.2752C>A (p.Pro918Thr)
3g.123284620G>ACA435297652ADCY5c.2451C>T (p.Pro817=)
c.2739C>T (p.Pro913=)
n.2177C>T
c.3849C>T (p.Pro1283=)
c.3774C>T (p.Pro1258=)
c.2724C>T (p.Pro908=)
n.544C>T
c.2748C>T (p.Pro916=)
c.2799C>T (p.Pro933=)
c.2526C>T (p.Pro842=)
c.2850C>T (p.Pro950=)
c.2760C>T (p.Pro920=)
c.2751C>T (p.Pro917=)
 dbSNP gnomAD v3 gnomAD v4
3g.123284620G>CCA435297653ADCY5c.2451C>G (p.Pro817=)
c.2739C>G (p.Pro913=)
n.2177C>G
c.3849C>G (p.Pro1283=)
c.3774C>G (p.Pro1258=)
c.2724C>G (p.Pro908=)
n.544C>G
c.2748C>G (p.Pro916=)
c.2799C>G (p.Pro933=)
c.2526C>G (p.Pro842=)
c.2850C>G (p.Pro950=)
c.2760C>G (p.Pro920=)
c.2751C>G (p.Pro917=)
3g.123284620G=CA1398327444ADCY5c.2451C= (p.Pro817=)
c.2739C= (p.Pro913=)
n.2177C=
c.3849C= (p.Pro1283=)
c.3774C= (p.Pro1258=)
c.2724C= (p.Pro908=)
n.544C=
c.2748C= (p.Pro916=)
c.2799C= (p.Pro933=)
c.2526C= (p.Pro842=)
c.2850C= (p.Pro950=)
c.2760C= (p.Pro920=)
c.2751C= (p.Pro917=)
3g.123284620G>TCA435297654ADCY5c.2451C>A (p.Pro817=)
c.2739C>A (p.Pro913=)
n.2177C>A
c.3849C>A (p.Pro1283=)
c.3774C>A (p.Pro1258=)
c.2724C>A (p.Pro908=)
n.544C>A
c.2748C>A (p.Pro916=)
c.2799C>A (p.Pro933=)
c.2526C>A (p.Pro842=)
c.2850C>A (p.Pro950=)
c.2760C>A (p.Pro920=)
c.2751C>A (p.Pro917=)
3g.123284621G>ACA354221751ADCY5c.2450C>T (p.Pro817Leu)
c.2738C>T (p.Pro913Leu)
n.2176C>T
c.3848C>T (p.Pro1283Leu)
c.3773C>T (p.Pro1258Leu)
c.2723C>T (p.Pro908Leu)
n.543C>T
c.2747C>T (p.Pro916Leu)
c.2798C>T (p.Pro933Leu)
c.2525C>T (p.Pro842Leu)
c.2849C>T (p.Pro950Leu)
c.2759C>T (p.Pro920Leu)
c.2750C>T (p.Pro917Leu)
 gnomAD v4
3g.123284621G>CCA354221753ADCY5c.2450C>G (p.Pro817Arg)
c.2738C>G (p.Pro913Arg)
n.2176C>G
c.3848C>G (p.Pro1283Arg)
c.3773C>G (p.Pro1258Arg)
c.2723C>G (p.Pro908Arg)
n.543C>G
c.2747C>G (p.Pro916Arg)
c.2798C>G (p.Pro933Arg)
c.2525C>G (p.Pro842Arg)
c.2849C>G (p.Pro950Arg)
c.2759C>G (p.Pro920Arg)
c.2750C>G (p.Pro917Arg)
3g.123284621G>TCA354221755ADCY5c.2450C>A (p.Pro817His)
c.2738C>A (p.Pro913His)
n.2176C>A
c.3848C>A (p.Pro1283His)
c.3773C>A (p.Pro1258His)
c.2723C>A (p.Pro908His)
n.543C>A
c.2747C>A (p.Pro916His)
c.2798C>A (p.Pro933His)
c.2525C>A (p.Pro842His)
c.2849C>A (p.Pro950His)
c.2759C>A (p.Pro920His)
c.2750C>A (p.Pro917His)
3g.123284622G>ACA354221757ADCY5c.2449C>T (p.Pro817Ser)
c.2737C>T (p.Pro913Ser)
n.2175C>T
c.3847C>T (p.Pro1283Ser)
c.3772C>T (p.Pro1258Ser)
c.2722C>T (p.Pro908Ser)
n.542C>T
c.2746C>T (p.Pro916Ser)
c.2797C>T (p.Pro933Ser)
c.2524C>T (p.Pro842Ser)
c.2848C>T (p.Pro950Ser)
c.2758C>T (p.Pro920Ser)
c.2749C>T (p.Pro917Ser)
 gnomAD v4 COSMIC
3g.123284622G>CCA354221759ADCY5c.2449C>G (p.Pro817Ala)
c.2737C>G (p.Pro913Ala)
n.2175C>G
c.3847C>G (p.Pro1283Ala)
c.3772C>G (p.Pro1258Ala)
c.2722C>G (p.Pro908Ala)
n.542C>G
c.2746C>G (p.Pro916Ala)
c.2797C>G (p.Pro933Ala)
c.2524C>G (p.Pro842Ala)
c.2848C>G (p.Pro950Ala)
c.2758C>G (p.Pro920Ala)
c.2749C>G (p.Pro917Ala)
3g.123284622G>TCA354221761ADCY5c.2449C>A (p.Pro817Thr)
c.2737C>A (p.Pro913Thr)
n.2175C>A
c.3847C>A (p.Pro1283Thr)
c.3772C>A (p.Pro1258Thr)
c.2722C>A (p.Pro908Thr)
n.542C>A
c.2746C>A (p.Pro916Thr)
c.2797C>A (p.Pro933Thr)
c.2524C>A (p.Pro842Thr)
c.2848C>A (p.Pro950Thr)
c.2758C>A (p.Pro920Thr)
c.2749C>A (p.Pro917Thr)
 COSMIC
3g.123284623C>ACA435297655ADCY5c.2448G>T (p.Gly816=)
c.2736G>T (p.Gly912=)
n.2174G>T
c.3846G>T (p.Gly1282=)
c.3771G>T (p.Gly1257=)
c.2721G>T (p.Gly907=)
n.541G>T
c.2745G>T (p.Gly915=)
c.2796G>T (p.Gly932=)
c.2523G>T (p.Gly841=)
c.2847G>T (p.Gly949=)
c.2757G>T (p.Gly919=)
c.2748G>T (p.Gly916=)
3g.123284623C=CA1398327445ADCY5c.2448G= (p.Gly816=)
c.2736G= (p.Gly912=)
n.2174G=
c.3846G= (p.Gly1282=)
c.3771G= (p.Gly1257=)
c.2721G= (p.Gly907=)
n.541G=
c.2745G= (p.Gly915=)
c.2796G= (p.Gly932=)
c.2523G= (p.Gly841=)
c.2847G= (p.Gly949=)
c.2757G= (p.Gly919=)
c.2748G= (p.Gly916=)
3g.123284623C>GCA435297656ADCY5c.2448G>C (p.Gly816=)
c.2736G>C (p.Gly912=)
n.2174G>C
c.3846G>C (p.Gly1282=)
c.3771G>C (p.Gly1257=)
c.2721G>C (p.Gly907=)
n.541G>C
c.2745G>C (p.Gly915=)
c.2796G>C (p.Gly932=)
c.2523G>C (p.Gly841=)
c.2847G>C (p.Gly949=)
c.2757G>C (p.Gly919=)
c.2748G>C (p.Gly916=)
 gnomAD v4
3g.123284623C>TCA2576685ADCY5c.2448G>A (p.Gly816=)
c.2736G>A (p.Gly912=)
n.2174G>A
c.3846G>A (p.Gly1282=)
c.3771G>A (p.Gly1257=)
c.2721G>A (p.Gly907=)
n.541G>A
c.2745G>A (p.Gly915=)
c.2796G>A (p.Gly932=)
c.2523G>A (p.Gly841=)
c.2847G>A (p.Gly949=)
c.2757G>A (p.Gly919=)
c.2748G>A (p.Gly916=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.123284624C>ACA354221765ADCY5c.2447G>T (p.Gly816Val)
c.2735G>T (p.Gly912Val)
n.2173G>T
c.3845G>T (p.Gly1282Val)
c.3770G>T (p.Gly1257Val)
c.2720G>T (p.Gly907Val)
n.540G>T
c.2744G>T (p.Gly915Val)
c.2795G>T (p.Gly932Val)
c.2522G>T (p.Gly841Val)
c.2846G>T (p.Gly949Val)
c.2756G>T (p.Gly919Val)
c.2747G>T (p.Gly916Val)
3g.123284624C>GCA354221767ADCY5c.2447G>C (p.Gly816Ala)
c.2735G>C (p.Gly912Ala)
n.2173G>C
c.3845G>C (p.Gly1282Ala)
c.3770G>C (p.Gly1257Ala)
c.2720G>C (p.Gly907Ala)
n.540G>C
c.2744G>C (p.Gly915Ala)
c.2795G>C (p.Gly932Ala)
c.2522G>C (p.Gly841Ala)
c.2846G>C (p.Gly949Ala)
c.2756G>C (p.Gly919Ala)
c.2747G>C (p.Gly916Ala)
3g.123284624C>TCA354221769ADCY5c.2447G>A (p.Gly816Glu)
c.2735G>A (p.Gly912Glu)
n.2173G>A
c.3845G>A (p.Gly1282Glu)
c.3770G>A (p.Gly1257Glu)
c.2720G>A (p.Gly907Glu)
n.540G>A
c.2744G>A (p.Gly915Glu)
c.2795G>A (p.Gly932Glu)
c.2522G>A (p.Gly841Glu)
c.2846G>A (p.Gly949Glu)
c.2756G>A (p.Gly919Glu)
c.2747G>A (p.Gly916Glu)
3g.123284625C>ACA354221773ADCY5c.2446G>T (p.Gly816Trp)
c.2734G>T (p.Gly912Trp)
n.2172G>T
c.3844G>T (p.Gly1282Trp)
c.3769G>T (p.Gly1257Trp)
c.2719G>T (p.Gly907Trp)
n.539G>T
c.2743G>T (p.Gly915Trp)
c.2794G>T (p.Gly932Trp)
c.2521G>T (p.Gly841Trp)
c.2845G>T (p.Gly949Trp)
c.2755G>T (p.Gly919Trp)
c.2746G>T (p.Gly916Trp)
3g.123284625C=CA1398327446ADCY5c.2446G= (p.Gly816=)
c.2734G= (p.Gly912=)
n.2172G=
c.3844G= (p.Gly1282=)
c.3769G= (p.Gly1257=)
c.2719G= (p.Gly907=)
n.539G=
c.2743G= (p.Gly915=)
c.2794G= (p.Gly932=)
c.2521G= (p.Gly841=)
c.2845G= (p.Gly949=)
c.2755G= (p.Gly919=)
c.2746G= (p.Gly916=)
3g.123284625C>GCA354221775ADCY5c.2446G>C (p.Gly816Arg)
c.2734G>C (p.Gly912Arg)
n.2172G>C
c.3844G>C (p.Gly1282Arg)
c.3769G>C (p.Gly1257Arg)
c.2719G>C (p.Gly907Arg)
n.539G>C
c.2743G>C (p.Gly915Arg)
c.2794G>C (p.Gly932Arg)
c.2521G>C (p.Gly841Arg)
c.2845G>C (p.Gly949Arg)
c.2755G>C (p.Gly919Arg)
c.2746G>C (p.Gly916Arg)
3g.123284625C>TCA354221772ADCY5c.2446G>A (p.Gly816Arg)
c.2734G>A (p.Gly912Arg)
n.2172G>A
c.3844G>A (p.Gly1282Arg)
c.3769G>A (p.Gly1257Arg)
c.2719G>A (p.Gly907Arg)
n.539G>A
c.2743G>A (p.Gly915Arg)
c.2794G>A (p.Gly932Arg)
c.2521G>A (p.Gly841Arg)
c.2845G>A (p.Gly949Arg)
c.2755G>A (p.Gly919Arg)
c.2746G>A (p.Gly916Arg)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
3g.123284626T>ACA435297657ADCY5c.2445A>T (p.Gly815=)
c.2733A>T (p.Gly911=)
n.2171A>T
c.3843A>T (p.Gly1281=)
c.3768A>T (p.Gly1256=)
c.2718A>T (p.Gly906=)
n.538A>T
c.2742A>T (p.Gly914=)
c.2793A>T (p.Gly931=)
c.2520A>T (p.Gly840=)
c.2844A>T (p.Gly948=)
c.2754A>T (p.Gly918=)
c.2745A>T (p.Gly915=)
3g.123284626T>CCA435297659ADCY5c.2445A>G (p.Gly815=)
c.2733A>G (p.Gly911=)
n.2171A>G
c.3843A>G (p.Gly1281=)
c.3768A>G (p.Gly1256=)
c.2718A>G (p.Gly906=)
n.538A>G
c.2742A>G (p.Gly914=)
c.2793A>G (p.Gly931=)
c.2520A>G (p.Gly840=)
c.2844A>G (p.Gly948=)
c.2754A>G (p.Gly918=)
c.2745A>G (p.Gly915=)
3g.123284626T>GCA435297658ADCY5c.2445A>C (p.Gly815=)
c.2733A>C (p.Gly911=)
n.2171A>C
c.3843A>C (p.Gly1281=)
c.3768A>C (p.Gly1256=)
c.2718A>C (p.Gly906=)
n.538A>C
c.2742A>C (p.Gly914=)
c.2793A>C (p.Gly931=)
c.2520A>C (p.Gly840=)
c.2844A>C (p.Gly948=)
c.2754A>C (p.Gly918=)
c.2745A>C (p.Gly915=)
3g.123284627C>ACA354221778ADCY5c.2444G>T (p.Gly815Val)
c.2732G>T (p.Gly911Val)
n.2170G>T
c.3842G>T (p.Gly1281Val)
c.3767G>T (p.Gly1256Val)
c.2717G>T (p.Gly906Val)
n.537G>T
c.2741G>T (p.Gly914Val)
c.2792G>T (p.Gly931Val)
c.2519G>T (p.Gly840Val)
c.2843G>T (p.Gly948Val)
c.2753G>T (p.Gly918Val)
c.2744G>T (p.Gly915Val)
3g.123284627C=CA1398327447ADCY5c.2444G= (p.Gly815=)
c.2732G= (p.Gly911=)
n.2170G=
c.3842G= (p.Gly1281=)
c.3767G= (p.Gly1256=)
c.2717G= (p.Gly906=)
n.537G=
c.2741G= (p.Gly914=)
c.2792G= (p.Gly931=)
c.2519G= (p.Gly840=)
c.2843G= (p.Gly948=)
c.2753G= (p.Gly918=)
c.2744G= (p.Gly915=)
3g.123284627C>GCA2576686ADCY5c.2444G>C (p.Gly815Ala)
c.2732G>C (p.Gly911Ala)
n.2170G>C
c.3842G>C (p.Gly1281Ala)
c.3767G>C (p.Gly1256Ala)
c.2717G>C (p.Gly906Ala)
n.537G>C
c.2741G>C (p.Gly914Ala)
c.2792G>C (p.Gly931Ala)
c.2519G>C (p.Gly840Ala)
c.2843G>C (p.Gly948Ala)
c.2753G>C (p.Gly918Ala)
c.2744G>C (p.Gly915Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.123284627C>TCA354221781ADCY5c.2444G>A (p.Gly815Glu)
c.2732G>A (p.Gly911Glu)
n.2170G>A
c.3842G>A (p.Gly1281Glu)
c.3767G>A (p.Gly1256Glu)
c.2717G>A (p.Gly906Glu)
n.537G>A
c.2741G>A (p.Gly914Glu)
c.2792G>A (p.Gly931Glu)
c.2519G>A (p.Gly840Glu)
c.2843G>A (p.Gly948Glu)
c.2753G>A (p.Gly918Glu)
c.2744G>A (p.Gly915Glu)
 gnomAD v4
3g.123284628C>ACA354221784ADCY5c.2443G>T (p.Gly815Ter)
c.2731G>T (p.Gly911Ter)
n.2169G>T
c.3841G>T (p.Gly1281Ter)
c.3766G>T (p.Gly1256Ter)
c.2716G>T (p.Gly906Ter)
n.536G>T
c.2740G>T (p.Gly914Ter)
c.2791G>T (p.Gly931Ter)
c.2518G>T (p.Gly840Ter)
c.2842G>T (p.Gly948Ter)
c.2752G>T (p.Gly918Ter)
c.2743G>T (p.Gly915Ter)
 dbSNP
3g.123284628C=CA1398327448ADCY5c.2443G= (p.Gly815=)
c.2731G= (p.Gly911=)
n.2169G=
c.3841G= (p.Gly1281=)
c.3766G= (p.Gly1256=)
c.2716G= (p.Gly906=)
n.536G=
c.2740G= (p.Gly914=)
c.2791G= (p.Gly931=)
c.2518G= (p.Gly840=)
c.2842G= (p.Gly948=)
c.2752G= (p.Gly918=)
c.2743G= (p.Gly915=)
3g.123284628C>GCA354221788ADCY5c.2443G>C (p.Gly815Arg)
c.2731G>C (p.Gly911Arg)
n.2169G>C
c.3841G>C (p.Gly1281Arg)
c.3766G>C (p.Gly1256Arg)
c.2716G>C (p.Gly906Arg)
n.536G>C
c.2740G>C (p.Gly914Arg)
c.2791G>C (p.Gly931Arg)
c.2518G>C (p.Gly840Arg)
c.2842G>C (p.Gly948Arg)
c.2752G>C (p.Gly918Arg)
c.2743G>C (p.Gly915Arg)
3g.123284628C>TCA354221786ADCY5c.2443G>A (p.Gly815Arg)
c.2731G>A (p.Gly911Arg)
n.2169G>A
c.3841G>A (p.Gly1281Arg)
c.3766G>A (p.Gly1256Arg)
c.2716G>A (p.Gly906Arg)
n.536G>A
c.2740G>A (p.Gly914Arg)
c.2791G>A (p.Gly931Arg)
c.2518G>A (p.Gly840Arg)
c.2842G>A (p.Gly948Arg)
c.2752G>A (p.Gly918Arg)
c.2743G>A (p.Gly915Arg)
3g.123284629A>CCA354221790ADCY5c.2442T>G (p.Asn814Lys)
c.2730T>G (p.Asn910Lys)
n.2168T>G
c.3840T>G (p.Asn1280Lys)
c.3765T>G (p.Asn1255Lys)
c.2715T>G (p.Asn905Lys)
n.535T>G
c.2739T>G (p.Asn913Lys)
c.2790T>G (p.Asn930Lys)
c.2517T>G (p.Asn839Lys)
c.2841T>G (p.Asn947Lys)
c.2751T>G (p.Asn917Lys)
c.2742T>G (p.Asn914Lys)
 gnomAD v4
3g.123284629A>GCA435297661ADCY5c.2442T>C (p.Asn814=)
c.2730T>C (p.Asn910=)
n.2168T>C
c.3840T>C (p.Asn1280=)
c.3765T>C (p.Asn1255=)
c.2715T>C (p.Asn905=)
n.535T>C
c.2739T>C (p.Asn913=)
c.2790T>C (p.Asn930=)
c.2517T>C (p.Asn839=)
c.2841T>C (p.Asn947=)
c.2751T>C (p.Asn917=)
c.2742T>C (p.Asn914=)
 gnomAD v4
3g.123284629A>TCA354221792ADCY5c.2442T>A (p.Asn814Lys)
c.2730T>A (p.Asn910Lys)
n.2168T>A
c.3840T>A (p.Asn1280Lys)
c.3765T>A (p.Asn1255Lys)
c.2715T>A (p.Asn905Lys)
n.535T>A
c.2739T>A (p.Asn913Lys)
c.2790T>A (p.Asn930Lys)
c.2517T>A (p.Asn839Lys)
c.2841T>A (p.Asn947Lys)
c.2751T>A (p.Asn917Lys)
c.2742T>A (p.Asn914Lys)
3g.123284630T>ACA354221794ADCY5c.2441A>T (p.Asn814Ile)
c.2729A>T (p.Asn910Ile)
n.2167A>T
c.3839A>T (p.Asn1280Ile)
c.3764A>T (p.Asn1255Ile)
c.2714A>T (p.Asn905Ile)
n.534A>T
c.2738A>T (p.Asn913Ile)
c.2789A>T (p.Asn930Ile)
c.2516A>T (p.Asn839Ile)
c.2840A>T (p.Asn947Ile)
c.2750A>T (p.Asn917Ile)
c.2741A>T (p.Asn914Ile)
3g.123284630T>CCA2576687ADCY5c.2441A>G (p.Asn814Ser)
c.2729A>G (p.Asn910Ser)
n.2167A>G
c.3839A>G (p.Asn1280Ser)
c.3764A>G (p.Asn1255Ser)
c.2714A>G (p.Asn905Ser)
n.534A>G
c.2738A>G (p.Asn913Ser)
c.2789A>G (p.Asn930Ser)
c.2516A>G (p.Asn839Ser)
c.2840A>G (p.Asn947Ser)
c.2750A>G (p.Asn917Ser)
c.2741A>G (p.Asn914Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.123284630T>GCA354221795ADCY5c.2441A>C (p.Asn814Thr)
c.2729A>C (p.Asn910Thr)
n.2167A>C
c.3839A>C (p.Asn1280Thr)
c.3764A>C (p.Asn1255Thr)
c.2714A>C (p.Asn905Thr)
n.534A>C
c.2738A>C (p.Asn913Thr)
c.2789A>C (p.Asn930Thr)
c.2516A>C (p.Asn839Thr)
c.2840A>C (p.Asn947Thr)
c.2750A>C (p.Asn917Thr)
c.2741A>C (p.Asn914Thr)
3g.123284630T=CA1398327449ADCY5c.2441A= (p.Asn814=)
c.2729A= (p.Asn910=)
n.2167A=
c.3839A= (p.Asn1280=)
c.3764A= (p.Asn1255=)
c.2714A= (p.Asn905=)
n.534A=
c.2738A= (p.Asn913=)
c.2789A= (p.Asn930=)
c.2516A= (p.Asn839=)
c.2840A= (p.Asn947=)
c.2750A= (p.Asn917=)
c.2741A= (p.Asn914=)
3g.123284631T>ACA354221798ADCY5c.2440A>T (p.Asn814Tyr)
c.2728A>T (p.Asn910Tyr)
n.2166A>T
c.3838A>T (p.Asn1280Tyr)
c.3763A>T (p.Asn1255Tyr)
c.2713A>T (p.Asn905Tyr)
n.533A>T
c.2737A>T (p.Asn913Tyr)
c.2788A>T (p.Asn930Tyr)
c.2515A>T (p.Asn839Tyr)
c.2839A>T (p.Asn947Tyr)
c.2749A>T (p.Asn917Tyr)
c.2740A>T (p.Asn914Tyr)
3g.123284631T>CCA354221800ADCY5c.2440A>G (p.Asn814Asp)
c.2728A>G (p.Asn910Asp)
n.2166A>G
c.3838A>G (p.Asn1280Asp)
c.3763A>G (p.Asn1255Asp)
c.2713A>G (p.Asn905Asp)
n.533A>G
c.2737A>G (p.Asn913Asp)
c.2788A>G (p.Asn930Asp)
c.2515A>G (p.Asn839Asp)
c.2839A>G (p.Asn947Asp)
c.2749A>G (p.Asn917Asp)
c.2740A>G (p.Asn914Asp)
3g.123284631T>GCA354221802ADCY5c.2440A>C (p.Asn814His)
c.2728A>C (p.Asn910His)
n.2166A>C
c.3838A>C (p.Asn1280His)
c.3763A>C (p.Asn1255His)
c.2713A>C (p.Asn905His)
n.533A>C
c.2737A>C (p.Asn913His)
c.2788A>C (p.Asn930His)
c.2515A>C (p.Asn839His)
c.2839A>C (p.Asn947His)
c.2749A>C (p.Asn917His)
c.2740A>C (p.Asn914His)
3g.123284632G>ACA435297662ADCY5c.2439C>T (p.Leu813=)
c.2727C>T (p.Leu909=)
n.2165C>T
c.3837C>T (p.Leu1279=)
c.3762C>T (p.Leu1254=)
c.2712C>T (p.Leu904=)
n.532C>T
c.2736C>T (p.Leu912=)
c.2787C>T (p.Leu929=)
c.2514C>T (p.Leu838=)
c.2838C>T (p.Leu946=)
c.2748C>T (p.Leu916=)
c.2739C>T (p.Leu913=)
3g.123284632G>CCA435297663ADCY5c.2439C>G (p.Leu813=)
c.2727C>G (p.Leu909=)
n.2165C>G
c.3837C>G (p.Leu1279=)
c.3762C>G (p.Leu1254=)
c.2712C>G (p.Leu904=)
n.532C>G
c.2736C>G (p.Leu912=)
c.2787C>G (p.Leu929=)
c.2514C>G (p.Leu838=)
c.2838C>G (p.Leu946=)
c.2748C>G (p.Leu916=)
c.2739C>G (p.Leu913=)
3g.123284632G>TCA435297664ADCY5c.2439C>A (p.Leu813=)
c.2727C>A (p.Leu909=)
n.2165C>A
c.3837C>A (p.Leu1279=)
c.3762C>A (p.Leu1254=)
c.2712C>A (p.Leu904=)
n.532C>A
c.2736C>A (p.Leu912=)
c.2787C>A (p.Leu929=)
c.2514C>A (p.Leu838=)
c.2838C>A (p.Leu946=)
c.2748C>A (p.Leu916=)
c.2739C>A (p.Leu913=)
3g.123284633delCA2577874719ADCY5c.2438del (p.Leu813ProfsTer?)
c.2726del (p.Leu909ProfsTer?)
n.2164del
c.3836del (p.Leu1279ProfsTer?)
c.3761del (p.Leu1254ProfsTer?)
c.2711del (p.Leu904ProfsTer?)
n.531del
c.2735del (p.Leu912ProfsTer?)
c.2786del (p.Leu929ProfsTer?)
c.2513del (p.Leu838ProfsTer?)
c.2837del (p.Leu946ProfsTer?)
c.2747del (p.Leu916ProfsTer?)
c.2738del (p.Leu913ProfsTer?)
3g.123284633A>CCA354221805ADCY5c.2438T>G (p.Leu813Arg)
c.2726T>G (p.Leu909Arg)
n.2164T>G
c.3836T>G (p.Leu1279Arg)
c.3761T>G (p.Leu1254Arg)
c.2711T>G (p.Leu904Arg)
n.531T>G
c.2735T>G (p.Leu912Arg)
c.2786T>G (p.Leu929Arg)
c.2513T>G (p.Leu838Arg)
c.2837T>G (p.Leu946Arg)
c.2747T>G (p.Leu916Arg)
c.2738T>G (p.Leu913Arg)
3g.123284633A>GCA354221806ADCY5c.2438T>C (p.Leu813Pro)
c.2726T>C (p.Leu909Pro)
n.2164T>C
c.3836T>C (p.Leu1279Pro)
c.3761T>C (p.Leu1254Pro)
c.2711T>C (p.Leu904Pro)
n.531T>C
c.2735T>C (p.Leu912Pro)
c.2786T>C (p.Leu929Pro)
c.2513T>C (p.Leu838Pro)
c.2837T>C (p.Leu946Pro)
c.2747T>C (p.Leu916Pro)
c.2738T>C (p.Leu913Pro)
3g.123284633A>TCA354221808ADCY5c.2438T>A (p.Leu813His)
c.2726T>A (p.Leu909His)
n.2164T>A
c.3836T>A (p.Leu1279His)
c.3761T>A (p.Leu1254His)
c.2711T>A (p.Leu904His)
n.531T>A
c.2735T>A (p.Leu912His)
c.2786T>A (p.Leu929His)
c.2513T>A (p.Leu838His)
c.2837T>A (p.Leu946His)
c.2747T>A (p.Leu916His)
c.2738T>A (p.Leu913His)
3g.123284634G>ACA354221810ADCY5c.2437C>T (p.Leu813Phe)
c.2725C>T (p.Leu909Phe)
n.2163C>T
c.3835C>T (p.Leu1279Phe)
c.3760C>T (p.Leu1254Phe)
c.2710C>T (p.Leu904Phe)
n.530C>T
c.2734C>T (p.Leu912Phe)
c.2785C>T (p.Leu929Phe)
c.2512C>T (p.Leu838Phe)
c.2836C>T (p.Leu946Phe)
c.2746C>T (p.Leu916Phe)
c.2737C>T (p.Leu913Phe)
3g.123284634G>CCA354221812ADCY5c.2437C>G (p.Leu813Val)
c.2725C>G (p.Leu909Val)
n.2163C>G
c.3835C>G (p.Leu1279Val)
c.3760C>G (p.Leu1254Val)
c.2710C>G (p.Leu904Val)
n.530C>G
c.2734C>G (p.Leu912Val)
c.2785C>G (p.Leu929Val)
c.2512C>G (p.Leu838Val)
c.2836C>G (p.Leu946Val)
c.2746C>G (p.Leu916Val)
c.2737C>G (p.Leu913Val)
3g.123284634G>TCA354221813ADCY5c.2437C>A (p.Leu813Ile)
c.2725C>A (p.Leu909Ile)
n.2163C>A
c.3835C>A (p.Leu1279Ile)
c.3760C>A (p.Leu1254Ile)
c.2710C>A (p.Leu904Ile)
n.530C>A
c.2734C>A (p.Leu912Ile)
c.2785C>A (p.Leu929Ile)
c.2512C>A (p.Leu838Ile)
c.2836C>A (p.Leu946Ile)
c.2746C>A (p.Leu916Ile)
c.2737C>A (p.Leu913Ile)
3g.123284635G>ACA435297665ADCY5c.2436C>T (p.Phe812=)
c.2724C>T (p.Phe908=)
n.2162C>T
c.3834C>T (p.Phe1278=)
c.3759C>T (p.Phe1253=)
c.2709C>T (p.Phe903=)
n.529C>T
c.2733C>T (p.Phe911=)
c.2784C>T (p.Phe928=)
c.2511C>T (p.Phe837=)
c.2835C>T (p.Phe945=)
c.2745C>T (p.Phe915=)
c.2736C>T (p.Phe912=)
 dbSNP
3g.123284635G>CCA354221814ADCY5c.2436C>G (p.Phe812Leu)
c.2724C>G (p.Phe908Leu)
n.2162C>G
c.3834C>G (p.Phe1278Leu)
c.3759C>G (p.Phe1253Leu)
c.2709C>G (p.Phe903Leu)
n.529C>G
c.2733C>G (p.Phe911Leu)
c.2784C>G (p.Phe928Leu)
c.2511C>G (p.Phe837Leu)
c.2835C>G (p.Phe945Leu)
c.2745C>G (p.Phe915Leu)
c.2736C>G (p.Phe912Leu)
3g.123284635G=CA1398327450ADCY5c.2436C= (p.Phe812=)
c.2724C= (p.Phe908=)
n.2162C=
c.3834C= (p.Phe1278=)
c.3759C= (p.Phe1253=)
c.2709C= (p.Phe903=)
n.529C=
c.2733C= (p.Phe911=)
c.2784C= (p.Phe928=)
c.2511C= (p.Phe837=)
c.2835C= (p.Phe945=)
c.2745C= (p.Phe915=)
c.2736C= (p.Phe912=)
3g.123284635G>TCA354221816ADCY5c.2436C>A (p.Phe812Leu)
c.2724C>A (p.Phe908Leu)
n.2162C>A
c.3834C>A (p.Phe1278Leu)
c.3759C>A (p.Phe1253Leu)
c.2709C>A (p.Phe903Leu)
n.529C>A
c.2733C>A (p.Phe911Leu)
c.2784C>A (p.Phe928Leu)
c.2511C>A (p.Phe837Leu)
c.2835C>A (p.Phe945Leu)
c.2745C>A (p.Phe915Leu)
c.2736C>A (p.Phe912Leu)
3g.123284636A>CCA354221822ADCY5c.2435T>G (p.Phe812Cys)
c.2723T>G (p.Phe908Cys)
n.2161T>G
c.3833T>G (p.Phe1278Cys)
c.3758T>G (p.Phe1253Cys)
c.2708T>G (p.Phe903Cys)
n.528T>G
c.2732T>G (p.Phe911Cys)
c.2783T>G (p.Phe928Cys)
c.2510T>G (p.Phe837Cys)
c.2834T>G (p.Phe945Cys)
c.2744T>G (p.Phe915Cys)
c.2735T>G (p.Phe912Cys)
3g.123284636A>GCA354221820ADCY5c.2435T>C (p.Phe812Ser)
c.2723T>C (p.Phe908Ser)
n.2161T>C
c.3833T>C (p.Phe1278Ser)
c.3758T>C (p.Phe1253Ser)
c.2708T>C (p.Phe903Ser)
n.528T>C
c.2732T>C (p.Phe911Ser)
c.2783T>C (p.Phe928Ser)
c.2510T>C (p.Phe837Ser)
c.2834T>C (p.Phe945Ser)
c.2744T>C (p.Phe915Ser)
c.2735T>C (p.Phe912Ser)
3g.123284636A>TCA354221818ADCY5c.2435T>A (p.Phe812Tyr)
c.2723T>A (p.Phe908Tyr)
n.2161T>A
c.3833T>A (p.Phe1278Tyr)
c.3758T>A (p.Phe1253Tyr)
c.2708T>A (p.Phe903Tyr)
n.528T>A
c.2732T>A (p.Phe911Tyr)
c.2783T>A (p.Phe928Tyr)
c.2510T>A (p.Phe837Tyr)
c.2834T>A (p.Phe945Tyr)
c.2744T>A (p.Phe915Tyr)
c.2735T>A (p.Phe912Tyr)
3g.123284637A=CA1398327451ADCY5c.2434T= (p.Phe812=)
c.2722T= (p.Phe908=)
n.2160T=
c.3832T= (p.Phe1278=)
c.3757T= (p.Phe1253=)
c.2707T= (p.Phe903=)
n.527T=
c.2731T= (p.Phe911=)
c.2782T= (p.Phe928=)
c.2509T= (p.Phe837=)
c.2833T= (p.Phe945=)
c.2743T= (p.Phe915=)
c.2734T= (p.Phe912=)
3g.123284637A>CCA354221824ADCY5c.2434T>G (p.Phe812Val)
c.2722T>G (p.Phe908Val)
n.2160T>G
c.3832T>G (p.Phe1278Val)
c.3757T>G (p.Phe1253Val)
c.2707T>G (p.Phe903Val)
n.527T>G
c.2731T>G (p.Phe911Val)
c.2782T>G (p.Phe928Val)
c.2509T>G (p.Phe837Val)
c.2833T>G (p.Phe945Val)
c.2743T>G (p.Phe915Val)
c.2734T>G (p.Phe912Val)
3g.123284637A>GCA2576688ADCY5c.2434T>C (p.Phe812Leu)
c.2722T>C (p.Phe908Leu)
n.2160T>C
c.3832T>C (p.Phe1278Leu)
c.3757T>C (p.Phe1253Leu)
c.2707T>C (p.Phe903Leu)
n.527T>C
c.2731T>C (p.Phe911Leu)
c.2782T>C (p.Phe928Leu)
c.2509T>C (p.Phe837Leu)
c.2833T>C (p.Phe945Leu)
c.2743T>C (p.Phe915Leu)
c.2734T>C (p.Phe912Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.123284637A>TCA354221827ADCY5c.2434T>A (p.Phe812Ile)
c.2722T>A (p.Phe908Ile)
n.2160T>A
c.3832T>A (p.Phe1278Ile)
c.3757T>A (p.Phe1253Ile)
c.2707T>A (p.Phe903Ile)
n.527T>A
c.2731T>A (p.Phe911Ile)
c.2782T>A (p.Phe928Ile)
c.2509T>A (p.Phe837Ile)
c.2833T>A (p.Phe945Ile)
c.2743T>A (p.Phe915Ile)
c.2734T>A (p.Phe912Ile)
3g.123284638G>ACA2576689ADCY5c.2433C>T (p.Tyr811=)
c.2721C>T (p.Tyr907=)
n.2159C>T
c.3831C>T (p.Tyr1277=)
c.3756C>T (p.Tyr1252=)
c.2706C>T (p.Tyr902=)
n.526C>T
c.2730C>T (p.Tyr910=)
c.2781C>T (p.Tyr927=)
c.2508C>T (p.Tyr836=)
c.2832C>T (p.Tyr944=)
c.2742C>T (p.Tyr914=)
c.2733C>T (p.Tyr911=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.123284638G>CCA354221830ADCY5c.2433C>G (p.Tyr811Ter)
c.2721C>G (p.Tyr907Ter)
n.2159C>G
c.3831C>G (p.Tyr1277Ter)
c.3756C>G (p.Tyr1252Ter)
c.2706C>G (p.Tyr902Ter)
n.526C>G
c.2730C>G (p.Tyr910Ter)
c.2781C>G (p.Tyr927Ter)
c.2508C>G (p.Tyr836Ter)
c.2832C>G (p.Tyr944Ter)
c.2742C>G (p.Tyr914Ter)
c.2733C>G (p.Tyr911Ter)
 COSMIC
3g.123284638G=CA1398327452ADCY5c.2433C= (p.Tyr811=)
c.2721C= (p.Tyr907=)
n.2159C=
c.3831C= (p.Tyr1277=)
c.3756C= (p.Tyr1252=)
c.2706C= (p.Tyr902=)
n.526C=
c.2730C= (p.Tyr910=)
c.2781C= (p.Tyr927=)
c.2508C= (p.Tyr836=)
c.2832C= (p.Tyr944=)
c.2742C= (p.Tyr914=)
c.2733C= (p.Tyr911=)
3g.123284638G>TCA354221832ADCY5c.2433C>A (p.Tyr811Ter)
c.2721C>A (p.Tyr907Ter)
n.2159C>A
c.3831C>A (p.Tyr1277Ter)
c.3756C>A (p.Tyr1252Ter)
c.2706C>A (p.Tyr902Ter)
n.526C>A
c.2730C>A (p.Tyr910Ter)
c.2781C>A (p.Tyr927Ter)
c.2508C>A (p.Tyr836Ter)
c.2832C>A (p.Tyr944Ter)
c.2742C>A (p.Tyr914Ter)
c.2733C>A (p.Tyr911Ter)
3g.123284639T>ACA354221834ADCY5c.2432A>T (p.Tyr811Phe)
c.2720A>T (p.Tyr907Phe)
n.2158A>T
c.3830A>T (p.Tyr1277Phe)
c.3755A>T (p.Tyr1252Phe)
c.2705A>T (p.Tyr902Phe)
n.525A>T
c.2729A>T (p.Tyr910Phe)
c.2780A>T (p.Tyr927Phe)
c.2507A>T (p.Tyr836Phe)
c.2831A>T (p.Tyr944Phe)
c.2741A>T (p.Tyr914Phe)
c.2732A>T (p.Tyr911Phe)
3g.123284639T>CCA354221837ADCY5c.2432A>G (p.Tyr811Cys)
c.2720A>G (p.Tyr907Cys)
n.2158A>G
c.3830A>G (p.Tyr1277Cys)
c.3755A>G (p.Tyr1252Cys)
c.2705A>G (p.Tyr902Cys)
n.525A>G
c.2729A>G (p.Tyr910Cys)
c.2780A>G (p.Tyr927Cys)
c.2507A>G (p.Tyr836Cys)
c.2831A>G (p.Tyr944Cys)
c.2741A>G (p.Tyr914Cys)
c.2732A>G (p.Tyr911Cys)
 ClinVar dbSNP gnomAD v4
3g.123284639T>GCA354221839ADCY5c.2432A>C (p.Tyr811Ser)
c.2720A>C (p.Tyr907Ser)
n.2158A>C
c.3830A>C (p.Tyr1277Ser)
c.3755A>C (p.Tyr1252Ser)
c.2705A>C (p.Tyr902Ser)
n.525A>C
c.2729A>C (p.Tyr910Ser)
c.2780A>C (p.Tyr927Ser)
c.2507A>C (p.Tyr836Ser)
c.2831A>C (p.Tyr944Ser)
c.2741A>C (p.Tyr914Ser)
c.2732A>C (p.Tyr911Ser)
3g.123284639T=CA1398327453ADCY5c.2432A= (p.Tyr811=)
c.2720A= (p.Tyr907=)
n.2158A=
c.3830A= (p.Tyr1277=)
c.3755A= (p.Tyr1252=)
c.2705A= (p.Tyr902=)
n.525A=
c.2729A= (p.Tyr910=)
c.2780A= (p.Tyr927=)
c.2507A= (p.Tyr836=)
c.2831A= (p.Tyr944=)
c.2741A= (p.Tyr914=)
c.2732A= (p.Tyr911=)
3g.123284640A>CCA354221841ADCY5c.2431T>G (p.Tyr811Asp)
c.2719T>G (p.Tyr907Asp)
n.2157T>G
c.3829T>G (p.Tyr1277Asp)
c.3754T>G (p.Tyr1252Asp)
c.2704T>G (p.Tyr902Asp)
n.524T>G
c.2728T>G (p.Tyr910Asp)
c.2779T>G (p.Tyr927Asp)
c.2506T>G (p.Tyr836Asp)
c.2830T>G (p.Tyr944Asp)
c.2740T>G (p.Tyr914Asp)
c.2731T>G (p.Tyr911Asp)
3g.123284640A>GCA354221843ADCY5c.2431T>C (p.Tyr811His)
c.2719T>C (p.Tyr907His)
n.2157T>C
c.3829T>C (p.Tyr1277His)
c.3754T>C (p.Tyr1252His)
c.2704T>C (p.Tyr902His)
n.524T>C
c.2728T>C (p.Tyr910His)
c.2779T>C (p.Tyr927His)
c.2506T>C (p.Tyr836His)
c.2830T>C (p.Tyr944His)
c.2740T>C (p.Tyr914His)
c.2731T>C (p.Tyr911His)
3g.123284640A>TCA354221844ADCY5c.2431T>A (p.Tyr811Asn)
c.2719T>A (p.Tyr907Asn)
n.2157T>A
c.3829T>A (p.Tyr1277Asn)
c.3754T>A (p.Tyr1252Asn)
c.2704T>A (p.Tyr902Asn)
n.524T>A
c.2728T>A (p.Tyr910Asn)
c.2779T>A (p.Tyr927Asn)
c.2506T>A (p.Tyr836Asn)
c.2830T>A (p.Tyr944Asn)
c.2740T>A (p.Tyr914Asn)
c.2731T>A (p.Tyr911Asn)
3g.123284641G>ACA435297666ADCY5c.2430C>T (p.Thr810=)
c.2718C>T (p.Thr906=)
n.2156C>T
c.3828C>T (p.Thr1276=)
c.3753C>T (p.Thr1251=)
c.2703C>T (p.Thr901=)
n.523C>T
c.2727C>T (p.Thr909=)
c.2778C>T (p.Thr926=)
c.2505C>T (p.Thr835=)
c.2829C>T (p.Thr943=)
c.2739C>T (p.Thr913=)
c.2730C>T (p.Thr910=)
3g.123284641G>CCA435297667ADCY5c.2430C>G (p.Thr810=)
c.2718C>G (p.Thr906=)
n.2156C>G
c.3828C>G (p.Thr1276=)
c.3753C>G (p.Thr1251=)
c.2703C>G (p.Thr901=)
n.523C>G
c.2727C>G (p.Thr909=)
c.2778C>G (p.Thr926=)
c.2505C>G (p.Thr835=)
c.2829C>G (p.Thr943=)
c.2739C>G (p.Thr913=)
c.2730C>G (p.Thr910=)
3g.123284641G=CA1398327454ADCY5c.2430C= (p.Thr810=)
c.2718C= (p.Thr906=)
n.2156C=
c.3828C= (p.Thr1276=)
c.3753C= (p.Thr1251=)
c.2703C= (p.Thr901=)
n.523C=
c.2727C= (p.Thr909=)
c.2778C= (p.Thr926=)
c.2505C= (p.Thr835=)
c.2829C= (p.Thr943=)
c.2739C= (p.Thr913=)
c.2730C= (p.Thr910=)
3g.123284641G>TCA435297668ADCY5c.2430C>A (p.Thr810=)
c.2718C>A (p.Thr906=)
n.2156C>A
c.3828C>A (p.Thr1276=)
c.3753C>A (p.Thr1251=)
c.2703C>A (p.Thr901=)
n.523C>A
c.2727C>A (p.Thr909=)
c.2778C>A (p.Thr926=)
c.2505C>A (p.Thr835=)
c.2829C>A (p.Thr943=)
c.2739C>A (p.Thr913=)
c.2730C>A (p.Thr910=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.123284642G>ACA354221850ADCY5c.2429C>T (p.Thr810Ile)
c.2717C>T (p.Thr906Ile)
n.2155C>T
c.3827C>T (p.Thr1276Ile)
c.3752C>T (p.Thr1251Ile)
c.2702C>T (p.Thr901Ile)
n.522C>T
c.2726C>T (p.Thr909Ile)
c.2777C>T (p.Thr926Ile)
c.2504C>T (p.Thr835Ile)
c.2828C>T (p.Thr943Ile)
c.2738C>T (p.Thr913Ile)
c.2729C>T (p.Thr910Ile)
3g.123284642G>CCA354221849ADCY5c.2429C>G (p.Thr810Ser)
c.2717C>G (p.Thr906Ser)
n.2155C>G
c.3827C>G (p.Thr1276Ser)
c.3752C>G (p.Thr1251Ser)
c.2702C>G (p.Thr901Ser)
n.522C>G
c.2726C>G (p.Thr909Ser)
c.2777C>G (p.Thr926Ser)
c.2504C>G (p.Thr835Ser)
c.2828C>G (p.Thr943Ser)
c.2738C>G (p.Thr913Ser)
c.2729C>G (p.Thr910Ser)
3g.123284642G>TCA354221847ADCY5c.2429C>A (p.Thr810Asn)
c.2717C>A (p.Thr906Asn)
n.2155C>A
c.3827C>A (p.Thr1276Asn)
c.3752C>A (p.Thr1251Asn)
c.2702C>A (p.Thr901Asn)
n.522C>A
c.2726C>A (p.Thr909Asn)
c.2777C>A (p.Thr926Asn)
c.2504C>A (p.Thr835Asn)
c.2828C>A (p.Thr943Asn)
c.2738C>A (p.Thr913Asn)
c.2729C>A (p.Thr910Asn)
3g.123284643T>ACA354221851ADCY5c.2428A>T (p.Thr810Ser)
c.2716A>T (p.Thr906Ser)
n.2154A>T
c.3826A>T (p.Thr1276Ser)
c.3751A>T (p.Thr1251Ser)
c.2701A>T (p.Thr901Ser)
n.521A>T
c.2725A>T (p.Thr909Ser)
c.2776A>T (p.Thr926Ser)
c.2503A>T (p.Thr835Ser)
c.2827A>T (p.Thr943Ser)
c.2737A>T (p.Thr913Ser)
c.2728A>T (p.Thr910Ser)
3g.123284643T>CCA354221853ADCY5c.2428A>G (p.Thr810Ala)
c.2716A>G (p.Thr906Ala)
n.2154A>G
c.3826A>G (p.Thr1276Ala)
c.3751A>G (p.Thr1251Ala)
c.2701A>G (p.Thr901Ala)
n.521A>G
c.2725A>G (p.Thr909Ala)
c.2776A>G (p.Thr926Ala)
c.2503A>G (p.Thr835Ala)
c.2827A>G (p.Thr943Ala)
c.2737A>G (p.Thr913Ala)
c.2728A>G (p.Thr910Ala)
3g.123284643T>GCA354221854ADCY5c.2428A>C (p.Thr810Pro)
c.2716A>C (p.Thr906Pro)
n.2154A>C
c.3826A>C (p.Thr1276Pro)
c.3751A>C (p.Thr1251Pro)
c.2701A>C (p.Thr901Pro)
n.521A>C
c.2725A>C (p.Thr909Pro)
c.2776A>C (p.Thr926Pro)
c.2503A>C (p.Thr835Pro)
c.2827A>C (p.Thr943Pro)
c.2737A>C (p.Thr913Pro)
c.2728A>C (p.Thr910Pro)
3g.123284648_123284650delCA2667291966ADCY5c.2426_2428del (p.Met809del)
c.2714_2716del (p.Met905del)
n.2152_2154del
c.3824_3826del (p.Met1275del)
c.3749_3751del (p.Met1250del)
c.2699_2701del (p.Met900del)
n.519_521del
c.2723_2725del (p.Met908del)
c.2774_2776del (p.Met925del)
c.2501_2503del (p.Met834del)
c.2825_2827del (p.Met942del)
c.2735_2737del (p.Met912del)
c.2726_2728del (p.Met909del)
 gnomAD v4
3g.123284644C>ACA354221857ADCY5c.2427G>T (p.Met809Ile)
c.2715G>T (p.Met905Ile)
n.2153G>T
c.3825G>T (p.Met1275Ile)
c.3750G>T (p.Met1250Ile)
c.2700G>T (p.Met900Ile)
n.520G>T
c.2724G>T (p.Met908Ile)
c.2775G>T (p.Met925Ile)
c.2502G>T (p.Met834Ile)
c.2826G>T (p.Met942Ile)
c.2736G>T (p.Met912Ile)
c.2727G>T (p.Met909Ile)
 COSMIC
3g.123284644C=CA1398327455ADCY5c.2427G= (p.Met809=)
c.2715G= (p.Met905=)
n.2153G=
c.3825G= (p.Met1275=)
c.3750G= (p.Met1250=)
c.2700G= (p.Met900=)
n.520G=
c.2724G= (p.Met908=)
c.2775G= (p.Met925=)
c.2502G= (p.Met834=)
c.2826G= (p.Met942=)
c.2736G= (p.Met912=)
c.2727G= (p.Met909=)
3g.123284644C>GCA354221859ADCY5c.2427G>C (p.Met809Ile)
c.2715G>C (p.Met905Ile)
n.2153G>C
c.3825G>C (p.Met1275Ile)
c.3750G>C (p.Met1250Ile)
c.2700G>C (p.Met900Ile)
n.520G>C
c.2724G>C (p.Met908Ile)
c.2775G>C (p.Met925Ile)
c.2502G>C (p.Met834Ile)
c.2826G>C (p.Met942Ile)
c.2736G>C (p.Met912Ile)
c.2727G>C (p.Met909Ile)
3g.123284644C>TCA354221861ADCY5c.2427G>A (p.Met809Ile)
c.2715G>A (p.Met905Ile)
n.2153G>A
c.3825G>A (p.Met1275Ile)
c.3750G>A (p.Met1250Ile)
c.2700G>A (p.Met900Ile)
n.520G>A
c.2724G>A (p.Met908Ile)
c.2775G>A (p.Met925Ile)
c.2502G>A (p.Met834Ile)
c.2826G>A (p.Met942Ile)
c.2736G>A (p.Met912Ile)
c.2727G>A (p.Met909Ile)
 dbSNP gnomAD v3 gnomAD v4
3g.123284645A=CA1398327456ADCY5c.2426T= (p.Met809=)
c.2714T= (p.Met905=)
n.2152T=
c.3824T= (p.Met1275=)
c.3749T= (p.Met1250=)
c.2699T= (p.Met900=)
n.519T=
c.2723T= (p.Met908=)
c.2774T= (p.Met925=)
c.2501T= (p.Met834=)
c.2825T= (p.Met942=)
c.2735T= (p.Met912=)
c.2726T= (p.Met909=)
3g.123284645A>CCA354221862ADCY5c.2426T>G (p.Met809Arg)
c.2714T>G (p.Met905Arg)
n.2152T>G
c.3824T>G (p.Met1275Arg)
c.3749T>G (p.Met1250Arg)
c.2699T>G (p.Met900Arg)
n.519T>G
c.2723T>G (p.Met908Arg)
c.2774T>G (p.Met925Arg)
c.2501T>G (p.Met834Arg)
c.2825T>G (p.Met942Arg)
c.2735T>G (p.Met912Arg)
c.2726T>G (p.Met909Arg)
3g.123284645A>GCA2576690ADCY5c.2426T>C (p.Met809Thr)
c.2714T>C (p.Met905Thr)
n.2152T>C
c.3824T>C (p.Met1275Thr)
c.3749T>C (p.Met1250Thr)
c.2699T>C (p.Met900Thr)
n.519T>C
c.2723T>C (p.Met908Thr)
c.2774T>C (p.Met925Thr)
c.2501T>C (p.Met834Thr)
c.2825T>C (p.Met942Thr)
c.2735T>C (p.Met912Thr)
c.2726T>C (p.Met909Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.123284645A>TCA354221865ADCY5c.2426T>A (p.Met809Lys)
c.2714T>A (p.Met905Lys)
n.2152T>A
c.3824T>A (p.Met1275Lys)
c.3749T>A (p.Met1250Lys)
c.2699T>A (p.Met900Lys)
n.519T>A
c.2723T>A (p.Met908Lys)
c.2774T>A (p.Met925Lys)
c.2501T>A (p.Met834Lys)
c.2825T>A (p.Met942Lys)
c.2735T>A (p.Met912Lys)
c.2726T>A (p.Met909Lys)
3g.123284646T>ACA354221867ADCY5c.2425A>T (p.Met809Leu)
c.2713A>T (p.Met905Leu)
n.2151A>T
c.3823A>T (p.Met1275Leu)
c.3748A>T (p.Met1250Leu)
c.2698A>T (p.Met900Leu)
n.518A>T
c.2722A>T (p.Met908Leu)
c.2773A>T (p.Met925Leu)
c.2500A>T (p.Met834Leu)
c.2824A>T (p.Met942Leu)
c.2734A>T (p.Met912Leu)
c.2725A>T (p.Met909Leu)
3g.123284646T>CCA354221869ADCY5c.2425A>G (p.Met809Val)
c.2713A>G (p.Met905Val)
n.2151A>G
c.3823A>G (p.Met1275Val)
c.3748A>G (p.Met1250Val)
c.2698A>G (p.Met900Val)
n.518A>G
c.2722A>G (p.Met908Val)
c.2773A>G (p.Met925Val)
c.2500A>G (p.Met834Val)
c.2824A>G (p.Met942Val)
c.2734A>G (p.Met912Val)
c.2725A>G (p.Met909Val)
3g.123284646T>GCA354221871ADCY5c.2425A>C (p.Met809Leu)
c.2713A>C (p.Met905Leu)
n.2151A>C
c.3823A>C (p.Met1275Leu)
c.3748A>C (p.Met1250Leu)
c.2698A>C (p.Met900Leu)
n.518A>C
c.2722A>C (p.Met908Leu)
c.2773A>C (p.Met925Leu)
c.2500A>C (p.Met834Leu)
c.2824A>C (p.Met942Leu)
c.2734A>C (p.Met912Leu)
c.2725A>C (p.Met909Leu)
 ClinVar gnomAD v4
3g.123284647C>ACA354221875ADCY5c.2424G>T (p.Met808Ile)
c.2712G>T (p.Met904Ile)
n.2150G>T
c.3822G>T (p.Met1274Ile)
c.3747G>T (p.Met1249Ile)
c.2697G>T (p.Met899Ile)
n.517G>T
c.2721G>T (p.Met907Ile)
c.2772G>T (p.Met924Ile)
c.2499G>T (p.Met833Ile)
c.2823G>T (p.Met941Ile)
c.2733G>T (p.Met911Ile)
c.2724G>T (p.Met908Ile)
3g.123284647C=CA1398327457ADCY5c.2424G= (p.Met808=)
c.2712G= (p.Met904=)
n.2150G=
c.3822G= (p.Met1274=)
c.3747G= (p.Met1249=)
c.2697G= (p.Met899=)
n.517G=
c.2721G= (p.Met907=)
c.2772G= (p.Met924=)
c.2499G= (p.Met833=)
c.2823G= (p.Met941=)
c.2733G= (p.Met911=)
c.2724G= (p.Met908=)
3g.123284647C>GCA354221877ADCY5c.2424G>C (p.Met808Ile)
c.2712G>C (p.Met904Ile)
n.2150G>C
c.3822G>C (p.Met1274Ile)
c.3747G>C (p.Met1249Ile)
c.2697G>C (p.Met899Ile)
n.517G>C
c.2721G>C (p.Met907Ile)
c.2772G>C (p.Met924Ile)
c.2499G>C (p.Met833Ile)
c.2823G>C (p.Met941Ile)
c.2733G>C (p.Met911Ile)
c.2724G>C (p.Met908Ile)
 gnomAD v4
3g.123284647C>TCA354221873ADCY5c.2424G>A (p.Met808Ile)
c.2712G>A (p.Met904Ile)
n.2150G>A
c.3822G>A (p.Met1274Ile)
c.3747G>A (p.Met1249Ile)
c.2697G>A (p.Met899Ile)
n.517G>A
c.2721G>A (p.Met907Ile)
c.2772G>A (p.Met924Ile)
c.2499G>A (p.Met833Ile)
c.2823G>A (p.Met941Ile)
c.2733G>A (p.Met911Ile)
c.2724G>A (p.Met908Ile)
 dbSNP
3g.123284648A>CCA354221880ADCY5c.2423T>G (p.Met808Arg)
c.2711T>G (p.Met904Arg)
n.2149T>G
c.3821T>G (p.Met1274Arg)
c.3746T>G (p.Met1249Arg)
c.2696T>G (p.Met899Arg)
n.516T>G
c.2720T>G (p.Met907Arg)
c.2771T>G (p.Met924Arg)
c.2498T>G (p.Met833Arg)
c.2822T>G (p.Met941Arg)
c.2732T>G (p.Met911Arg)
c.2723T>G (p.Met908Arg)
3g.123284648A>GCA354221881ADCY5c.2423T>C (p.Met808Thr)
c.2711T>C (p.Met904Thr)
n.2149T>C
c.3821T>C (p.Met1274Thr)
c.3746T>C (p.Met1249Thr)
c.2696T>C (p.Met899Thr)
n.516T>C
c.2720T>C (p.Met907Thr)
c.2771T>C (p.Met924Thr)
c.2498T>C (p.Met833Thr)
c.2822T>C (p.Met941Thr)
c.2732T>C (p.Met911Thr)
c.2723T>C (p.Met908Thr)
3g.123284648A>TCA354221883ADCY5c.2423T>A (p.Met808Lys)
c.2711T>A (p.Met904Lys)
n.2149T>A
c.3821T>A (p.Met1274Lys)
c.3746T>A (p.Met1249Lys)
c.2696T>A (p.Met899Lys)
n.516T>A
c.2720T>A (p.Met907Lys)
c.2771T>A (p.Met924Lys)
c.2498T>A (p.Met833Lys)
c.2822T>A (p.Met941Lys)
c.2732T>A (p.Met911Lys)
c.2723T>A (p.Met908Lys)
3g.123284649T>ACA354221886ADCY5c.2422A>T (p.Met808Leu)
c.2710A>T (p.Met904Leu)
n.2148A>T
c.3820A>T (p.Met1274Leu)
c.3745A>T (p.Met1249Leu)
c.2695A>T (p.Met899Leu)
n.515A>T
c.2719A>T (p.Met907Leu)
c.2770A>T (p.Met924Leu)
c.2497A>T (p.Met833Leu)
c.2821A>T (p.Met941Leu)
c.2731A>T (p.Met911Leu)
c.2722A>T (p.Met908Leu)
3g.123284649T>CCA354221888ADCY5c.2422A>G (p.Met808Val)
c.2710A>G (p.Met904Val)
n.2148A>G
c.3820A>G (p.Met1274Val)
c.3745A>G (p.Met1249Val)
c.2695A>G (p.Met899Val)
n.515A>G
c.2719A>G (p.Met907Val)
c.2770A>G (p.Met924Val)
c.2497A>G (p.Met833Val)
c.2821A>G (p.Met941Val)
c.2731A>G (p.Met911Val)
c.2722A>G (p.Met908Val)
3g.123284649T>GCA354221890ADCY5c.2422A>C (p.Met808Leu)
c.2710A>C (p.Met904Leu)
n.2148A>C
c.3820A>C (p.Met1274Leu)
c.3745A>C (p.Met1249Leu)
c.2695A>C (p.Met899Leu)
n.515A>C
c.2719A>C (p.Met907Leu)
c.2770A>C (p.Met924Leu)
c.2497A>C (p.Met833Leu)
c.2821A>C (p.Met941Leu)
c.2731A>C (p.Met911Leu)
c.2722A>C (p.Met908Leu)
3g.123284650C>ACA354221892ADCY5c.2421G>T (p.Glu807Asp)
c.2709G>T (p.Glu903Asp)
n.2147G>T
c.3819G>T (p.Glu1273Asp)
c.3744G>T (p.Glu1248Asp)
c.2694G>T (p.Glu898Asp)
n.514G>T
c.2718G>T (p.Glu906Asp)
c.2769G>T (p.Glu923Asp)
c.2496G>T (p.Glu832Asp)
c.2820G>T (p.Glu940Asp)
c.2730G>T (p.Glu910Asp)
c.2721G>T (p.Glu907Asp)
3g.123284650C>GCA354221895ADCY5c.2421G>C (p.Glu807Asp)
c.2709G>C (p.Glu903Asp)
n.2147G>C
c.3819G>C (p.Glu1273Asp)
c.3744G>C (p.Glu1248Asp)
c.2694G>C (p.Glu898Asp)
n.514G>C
c.2718G>C (p.Glu906Asp)
c.2769G>C (p.Glu923Asp)
c.2496G>C (p.Glu832Asp)
c.2820G>C (p.Glu940Asp)
c.2730G>C (p.Glu910Asp)
c.2721G>C (p.Glu907Asp)
3g.123284650C>TCA435297670ADCY5c.2421G>A (p.Glu807=)
c.2709G>A (p.Glu903=)
n.2147G>A
c.3819G>A (p.Glu1273=)
c.3744G>A (p.Glu1248=)
c.2694G>A (p.Glu898=)
n.514G>A
c.2718G>A (p.Glu906=)
c.2769G>A (p.Glu923=)
c.2496G>A (p.Glu832=)
c.2820G>A (p.Glu940=)
c.2730G>A (p.Glu910=)
c.2721G>A (p.Glu907=)
3g.123284651T>ACA354221897ADCY5c.2420A>T (p.Glu807Val)
c.2708A>T (p.Glu903Val)
n.2146A>T
c.3818A>T (p.Glu1273Val)
c.3743A>T (p.Glu1248Val)
c.2693A>T (p.Glu898Val)
n.513A>T
c.2717A>T (p.Glu906Val)
c.2768A>T (p.Glu923Val)
c.2495A>T (p.Glu832Val)
c.2819A>T (p.Glu940Val)
c.2729A>T (p.Glu910Val)
c.2720A>T (p.Glu907Val)
 dbSNP gnomAD v3 gnomAD v4
3g.123284651T>CCA354221899ADCY5c.2420A>G (p.Glu807Gly)
c.2708A>G (p.Glu903Gly)
n.2146A>G
c.3818A>G (p.Glu1273Gly)
c.3743A>G (p.Glu1248Gly)
c.2693A>G (p.Glu898Gly)
n.513A>G
c.2717A>G (p.Glu906Gly)
c.2768A>G (p.Glu923Gly)
c.2495A>G (p.Glu832Gly)
c.2819A>G (p.Glu940Gly)
c.2729A>G (p.Glu910Gly)
c.2720A>G (p.Glu907Gly)
3g.123284651T>GCA354221901ADCY5c.2420A>C (p.Glu807Ala)
c.2708A>C (p.Glu903Ala)
n.2146A>C
c.3818A>C (p.Glu1273Ala)
c.3743A>C (p.Glu1248Ala)
c.2693A>C (p.Glu898Ala)
n.513A>C
c.2717A>C (p.Glu906Ala)
c.2768A>C (p.Glu923Ala)
c.2495A>C (p.Glu832Ala)
c.2819A>C (p.Glu940Ala)
c.2729A>C (p.Glu910Ala)
c.2720A>C (p.Glu907Ala)
3g.123284651T=CA1398327458ADCY5c.2420A= (p.Glu807=)
c.2708A= (p.Glu903=)
n.2146A=
c.3818A= (p.Glu1273=)
c.3743A= (p.Glu1248=)
c.2693A= (p.Glu898=)
n.513A=
c.2717A= (p.Glu906=)
c.2768A= (p.Glu923=)
c.2495A= (p.Glu832=)
c.2819A= (p.Glu940=)
c.2729A= (p.Glu910=)
c.2720A= (p.Glu907=)
3g.123284652C>ACA354221904ADCY5c.2419G>T (p.Glu807Ter)
c.2707G>T (p.Glu903Ter)
n.2145G>T
c.3817G>T (p.Glu1273Ter)
c.3742G>T (p.Glu1248Ter)
c.2692G>T (p.Glu898Ter)
n.512G>T
c.2716G>T (p.Glu906Ter)
c.2767G>T (p.Glu923Ter)
c.2494G>T (p.Glu832Ter)
c.2818G>T (p.Glu940Ter)
c.2728G>T (p.Glu910Ter)
c.2719G>T (p.Glu907Ter)
3g.123284652C=CA1398327459ADCY5c.2419G= (p.Glu807=)
c.2707G= (p.Glu903=)
n.2145G=
c.3817G= (p.Glu1273=)
c.3742G= (p.Glu1248=)
c.2692G= (p.Glu898=)
n.512G=
c.2716G= (p.Glu906=)
c.2767G= (p.Glu923=)
c.2494G= (p.Glu832=)
c.2818G= (p.Glu940=)
c.2728G= (p.Glu910=)
c.2719G= (p.Glu907=)
3g.123284652C>GCA354221906ADCY5c.2419G>C (p.Glu807Gln)
c.2707G>C (p.Glu903Gln)
n.2145G>C
c.3817G>C (p.Glu1273Gln)
c.3742G>C (p.Glu1248Gln)
c.2692G>C (p.Glu898Gln)
n.512G>C
c.2716G>C (p.Glu906Gln)
c.2767G>C (p.Glu923Gln)
c.2494G>C (p.Glu832Gln)
c.2818G>C (p.Glu940Gln)
c.2728G>C (p.Glu910Gln)
c.2719G>C (p.Glu907Gln)
3g.123284652C>TCA82899751ADCY5c.2419G>A (p.Glu807Lys)
c.2707G>A (p.Glu903Lys)
n.2145G>A
c.3817G>A (p.Glu1273Lys)
c.3742G>A (p.Glu1248Lys)
c.2692G>A (p.Glu898Lys)
n.512G>A
c.2716G>A (p.Glu906Lys)
c.2767G>A (p.Glu923Lys)
c.2494G>A (p.Glu832Lys)
c.2818G>A (p.Glu940Lys)
c.2728G>A (p.Glu910Lys)
c.2719G>A (p.Glu907Lys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.123284653G>ACA82899756ADCY5c.2418C>T (p.Gly806=)
c.2706C>T (p.Gly902=)
n.2144C>T
c.3816C>T (p.Gly1272=)
c.3741C>T (p.Gly1247=)
c.2691C>T (p.Gly897=)
n.511C>T
c.2715C>T (p.Gly905=)
c.2766C>T (p.Gly922=)
c.2493C>T (p.Gly831=)
c.2817C>T (p.Gly939=)
c.2727C>T (p.Gly909=)
c.2718C>T (p.Gly906=)
 dbSNP gnomAD v4
3g.123284653G>CCA435297671ADCY5c.2418C>G (p.Gly806=)
c.2706C>G (p.Gly902=)
n.2144C>G
c.3816C>G (p.Gly1272=)
c.3741C>G (p.Gly1247=)
c.2691C>G (p.Gly897=)
n.511C>G
c.2715C>G (p.Gly905=)
c.2766C>G (p.Gly922=)
c.2493C>G (p.Gly831=)
c.2817C>G (p.Gly939=)
c.2727C>G (p.Gly909=)
c.2718C>G (p.Gly906=)
3g.123284653G=CA1398327460ADCY5c.2418C= (p.Gly806=)
c.2706C= (p.Gly902=)
n.2144C=
c.3816C= (p.Gly1272=)
c.3741C= (p.Gly1247=)
c.2691C= (p.Gly897=)
n.511C=
c.2715C= (p.Gly905=)
c.2766C= (p.Gly922=)
c.2493C= (p.Gly831=)
c.2817C= (p.Gly939=)
c.2727C= (p.Gly909=)
c.2718C= (p.Gly906=)
3g.123284653G>TCA2576691ADCY5c.2418C>A (p.Gly806=)
c.2706C>A (p.Gly902=)
n.2144C>A
c.3816C>A (p.Gly1272=)
c.3741C>A (p.Gly1247=)
c.2691C>A (p.Gly897=)
n.511C>A
c.2715C>A (p.Gly905=)
c.2766C>A (p.Gly922=)
c.2493C>A (p.Gly831=)
c.2817C>A (p.Gly939=)
c.2727C>A (p.Gly909=)
c.2718C>A (p.Gly906=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.123284654C>ACA354221915ADCY5c.2417G>T (p.Gly806Val)
c.2705G>T (p.Gly902Val)
n.2143G>T
c.3815G>T (p.Gly1272Val)
c.3740G>T (p.Gly1247Val)
c.2690G>T (p.Gly897Val)
n.510G>T
c.2714G>T (p.Gly905Val)
c.2765G>T (p.Gly922Val)
c.2492G>T (p.Gly831Val)
c.2816G>T (p.Gly939Val)
c.2726G>T (p.Gly909Val)
c.2717G>T (p.Gly906Val)
3g.123284654C>GCA354221910ADCY5c.2417G>C (p.Gly806Ala)
c.2705G>C (p.Gly902Ala)
n.2143G>C
c.3815G>C (p.Gly1272Ala)
c.3740G>C (p.Gly1247Ala)
c.2690G>C (p.Gly897Ala)
n.510G>C
c.2714G>C (p.Gly905Ala)
c.2765G>C (p.Gly922Ala)
c.2492G>C (p.Gly831Ala)
c.2816G>C (p.Gly939Ala)
c.2726G>C (p.Gly909Ala)
c.2717G>C (p.Gly906Ala)
3g.123284654C>TCA354221912ADCY5c.2417G>A (p.Gly806Asp)
c.2705G>A (p.Gly902Asp)
n.2143G>A
c.3815G>A (p.Gly1272Asp)
c.3740G>A (p.Gly1247Asp)
c.2690G>A (p.Gly897Asp)
n.510G>A
c.2714G>A (p.Gly905Asp)
c.2765G>A (p.Gly922Asp)
c.2492G>A (p.Gly831Asp)
c.2816G>A (p.Gly939Asp)
c.2726G>A (p.Gly909Asp)
c.2717G>A (p.Gly906Asp)
3g.123284655C>ACA354221917ADCY5c.2416G>T (p.Gly806Cys)
c.2704G>T (p.Gly902Cys)
n.2142G>T
c.3814G>T (p.Gly1272Cys)
c.3739G>T (p.Gly1247Cys)
c.2689G>T (p.Gly897Cys)
n.509G>T
c.2713G>T (p.Gly905Cys)
c.2764G>T (p.Gly922Cys)
c.2491G>T (p.Gly831Cys)
c.2815G>T (p.Gly939Cys)
c.2725G>T (p.Gly909Cys)
c.2716G>T (p.Gly906Cys)
3g.123284655C>GCA354221919ADCY5c.2416G>C (p.Gly806Arg)
c.2704G>C (p.Gly902Arg)
n.2142G>C
c.3814G>C (p.Gly1272Arg)
c.3739G>C (p.Gly1247Arg)
c.2689G>C (p.Gly897Arg)
n.509G>C
c.2713G>C (p.Gly905Arg)
c.2764G>C (p.Gly922Arg)
c.2491G>C (p.Gly831Arg)
c.2815G>C (p.Gly939Arg)
c.2725G>C (p.Gly909Arg)
c.2716G>C (p.Gly906Arg)
3g.123284655C>TCA354221921ADCY5c.2416G>A (p.Gly806Ser)
c.2704G>A (p.Gly902Ser)
n.2142G>A
c.3814G>A (p.Gly1272Ser)
c.3739G>A (p.Gly1247Ser)
c.2689G>A (p.Gly897Ser)
n.509G>A
c.2713G>A (p.Gly905Ser)
c.2764G>A (p.Gly922Ser)
c.2491G>A (p.Gly831Ser)
c.2815G>A (p.Gly939Ser)
c.2725G>A (p.Gly909Ser)
c.2716G>A (p.Gly906Ser)
3g.123284656T>ACA354221923ADCY5c.2415A>T (p.Lys805Asn)
c.2703A>T (p.Lys901Asn)
n.2141A>T
c.3813A>T (p.Lys1271Asn)
c.3738A>T (p.Lys1246Asn)
c.2688A>T (p.Lys896Asn)
n.508A>T
c.2712A>T (p.Lys904Asn)
c.2763A>T (p.Lys921Asn)
c.2490A>T (p.Lys830Asn)
c.2814A>T (p.Lys938Asn)
c.2724A>T (p.Lys908Asn)
c.2715A>T (p.Lys905Asn)
3g.123284656T>CCA435297672ADCY5c.2415A>G (p.Lys805=)
c.2703A>G (p.Lys901=)
n.2141A>G
c.3813A>G (p.Lys1271=)
c.3738A>G (p.Lys1246=)
c.2688A>G (p.Lys896=)
n.508A>G
c.2712A>G (p.Lys904=)
c.2763A>G (p.Lys921=)
c.2490A>G (p.Lys830=)
c.2814A>G (p.Lys938=)
c.2724A>G (p.Lys908=)
c.2715A>G (p.Lys905=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.123284656T>GCA354221925ADCY5c.2415A>C (p.Lys805Asn)
c.2703A>C (p.Lys901Asn)
n.2141A>C
c.3813A>C (p.Lys1271Asn)
c.3738A>C (p.Lys1246Asn)
c.2688A>C (p.Lys896Asn)
n.508A>C
c.2712A>C (p.Lys904Asn)
c.2763A>C (p.Lys921Asn)
c.2490A>C (p.Lys830Asn)
c.2814A>C (p.Lys938Asn)
c.2724A>C (p.Lys908Asn)
c.2715A>C (p.Lys905Asn)
3g.123284656T=CA1398327461ADCY5c.2415A= (p.Lys805=)
c.2703A= (p.Lys901=)
n.2141A=
c.3813A= (p.Lys1271=)
c.3738A= (p.Lys1246=)
c.2688A= (p.Lys896=)
n.508A=
c.2712A= (p.Lys904=)
c.2763A= (p.Lys921=)
c.2490A= (p.Lys830=)
c.2814A= (p.Lys938=)
c.2724A= (p.Lys908=)
c.2715A= (p.Lys905=)
3g.123284657T>ACA354221927ADCY5c.2414A>T (p.Lys805Ile)
c.2702A>T (p.Lys901Ile)
n.2140A>T
c.3812A>T (p.Lys1271Ile)
c.3737A>T (p.Lys1246Ile)
c.2687A>T (p.Lys896Ile)
n.507A>T
c.2711A>T (p.Lys904Ile)
c.2762A>T (p.Lys921Ile)
c.2489A>T (p.Lys830Ile)
c.2813A>T (p.Lys938Ile)
c.2723A>T (p.Lys908Ile)
c.2714A>T (p.Lys905Ile)
3g.123284657T>CCA354221929ADCY5c.2414A>G (p.Lys805Arg)
c.2702A>G (p.Lys901Arg)
n.2140A>G
c.3812A>G (p.Lys1271Arg)
c.3737A>G (p.Lys1246Arg)
c.2687A>G (p.Lys896Arg)
n.507A>G
c.2711A>G (p.Lys904Arg)
c.2762A>G (p.Lys921Arg)
c.2489A>G (p.Lys830Arg)
c.2813A>G (p.Lys938Arg)
c.2723A>G (p.Lys908Arg)
c.2714A>G (p.Lys905Arg)
3g.123284657T>GCA354221931ADCY5c.2414A>C (p.Lys805Thr)
c.2702A>C (p.Lys901Thr)
n.2140A>C
c.3812A>C (p.Lys1271Thr)
c.3737A>C (p.Lys1246Thr)
c.2687A>C (p.Lys896Thr)
n.507A>C
c.2711A>C (p.Lys904Thr)
c.2762A>C (p.Lys921Thr)
c.2489A>C (p.Lys830Thr)
c.2813A>C (p.Lys938Thr)
c.2723A>C (p.Lys908Thr)
c.2714A>C (p.Lys905Thr)
3g.123284658T>ACA354221933ADCY5c.2413A>T (p.Lys805Ter)
c.2701A>T (p.Lys901Ter)
n.2139A>T
c.3811A>T (p.Lys1271Ter)
c.3736A>T (p.Lys1246Ter)
c.2686A>T (p.Lys896Ter)
n.506A>T
c.2710A>T (p.Lys904Ter)
c.2761A>T (p.Lys921Ter)
c.2488A>T (p.Lys830Ter)
c.2812A>T (p.Lys938Ter)
c.2722A>T (p.Lys908Ter)
c.2713A>T (p.Lys905Ter)
 dbSNP
3g.123284658T>CCA354221935ADCY5c.2413A>G (p.Lys805Glu)
c.2701A>G (p.Lys901Glu)
n.2139A>G
c.3811A>G (p.Lys1271Glu)
c.3736A>G (p.Lys1246Glu)
c.2686A>G (p.Lys896Glu)
n.506A>G
c.2710A>G (p.Lys904Glu)
c.2761A>G (p.Lys921Glu)
c.2488A>G (p.Lys830Glu)
c.2812A>G (p.Lys938Glu)
c.2722A>G (p.Lys908Glu)
c.2713A>G (p.Lys905Glu)
 ClinVar dbSNP
3g.123284658T>GCA354221937ADCY5c.2413A>C (p.Lys805Gln)
c.2701A>C (p.Lys901Gln)
n.2139A>C
c.3811A>C (p.Lys1271Gln)
c.3736A>C (p.Lys1246Gln)
c.2686A>C (p.Lys896Gln)
n.506A>C
c.2710A>C (p.Lys904Gln)
c.2761A>C (p.Lys921Gln)
c.2488A>C (p.Lys830Gln)
c.2812A>C (p.Lys938Gln)
c.2722A>C (p.Lys908Gln)
c.2713A>C (p.Lys905Gln)
3g.123284658T=CA1398327462ADCY5c.2413A= (p.Lys805=)
c.2701A= (p.Lys901=)
n.2139A=
c.3811A= (p.Lys1271=)
c.3736A= (p.Lys1246=)
c.2686A= (p.Lys896=)
n.506A=
c.2710A= (p.Lys904=)
c.2761A= (p.Lys921=)
c.2488A= (p.Lys830=)
c.2812A= (p.Lys938=)
c.2722A= (p.Lys908=)
c.2713A= (p.Lys905=)
3g.123284659G>ACA82899766ADCY5c.2412C>T (p.Gly804=)
c.2700C>T (p.Gly900=)
n.2138C>T
c.3810C>T (p.Gly1270=)
c.3735C>T (p.Gly1245=)
c.2685C>T (p.Gly895=)
n.505C>T
c.2709C>T (p.Gly903=)
c.2760C>T (p.Gly920=)
c.2487C>T (p.Gly829=)
c.2811C>T (p.Gly937=)
c.2721C>T (p.Gly907=)
c.2712C>T (p.Gly904=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.123284659G>CCA435297673ADCY5c.2412C>G (p.Gly804=)
c.2700C>G (p.Gly900=)
n.2138C>G
c.3810C>G (p.Gly1270=)
c.3735C>G (p.Gly1245=)
c.2685C>G (p.Gly895=)
n.505C>G
c.2709C>G (p.Gly903=)
c.2760C>G (p.Gly920=)
c.2487C>G (p.Gly829=)
c.2811C>G (p.Gly937=)
c.2721C>G (p.Gly907=)
c.2712C>G (p.Gly904=)
3g.123284659G=CA1398327463ADCY5c.2412C= (p.Gly804=)
c.2700C= (p.Gly900=)
n.2138C=
c.3810C= (p.Gly1270=)
c.3735C= (p.Gly1245=)
c.2685C= (p.Gly895=)
n.505C=
c.2709C= (p.Gly903=)
c.2760C= (p.Gly920=)
c.2487C= (p.Gly829=)
c.2811C= (p.Gly937=)
c.2721C= (p.Gly907=)
c.2712C= (p.Gly904=)
3g.123284659G>TCA435297674ADCY5c.2412C>A (p.Gly804=)
c.2700C>A (p.Gly900=)
n.2138C>A
c.3810C>A (p.Gly1270=)
c.3735C>A (p.Gly1245=)
c.2685C>A (p.Gly895=)
n.505C>A
c.2709C>A (p.Gly903=)
c.2760C>A (p.Gly920=)
c.2487C>A (p.Gly829=)
c.2811C>A (p.Gly937=)
c.2721C>A (p.Gly907=)
c.2712C>A (p.Gly904=)
 gnomAD v4
3g.123284660C>ACA354221946ADCY5c.2411G>T (p.Gly804Val)
c.2699G>T (p.Gly900Val)
n.2137G>T
c.3809G>T (p.Gly1270Val)
c.3734G>T (p.Gly1245Val)
c.2684G>T (p.Gly895Val)
n.504G>T
c.2708G>T (p.Gly903Val)
c.2759G>T (p.Gly920Val)
c.2486G>T (p.Gly829Val)
c.2810G>T (p.Gly937Val)
c.2720G>T (p.Gly907Val)
c.2711G>T (p.Gly904Val)
3g.123284660C>GCA354221944ADCY5c.2411G>C (p.Gly804Ala)
c.2699G>C (p.Gly900Ala)
n.2137G>C
c.3809G>C (p.Gly1270Ala)
c.3734G>C (p.Gly1245Ala)
c.2684G>C (p.Gly895Ala)
n.504G>C
c.2708G>C (p.Gly903Ala)
c.2759G>C (p.Gly920Ala)
c.2486G>C (p.Gly829Ala)
c.2810G>C (p.Gly937Ala)
c.2720G>C (p.Gly907Ala)
c.2711G>C (p.Gly904Ala)
3g.123284660C>TCA354221941ADCY5c.2411G>A (p.Gly804Asp)
c.2699G>A (p.Gly900Asp)
n.2137G>A
c.3809G>A (p.Gly1270Asp)
c.3734G>A (p.Gly1245Asp)
c.2684G>A (p.Gly895Asp)
n.504G>A
c.2708G>A (p.Gly903Asp)
c.2759G>A (p.Gly920Asp)
c.2486G>A (p.Gly829Asp)
c.2810G>A (p.Gly937Asp)
c.2720G>A (p.Gly907Asp)
c.2711G>A (p.Gly904Asp)
3g.123284660_123284666delinsCCCTTGACA1398327464ADCY5c.2405_2411delinsTCAAGGG (p.Val802=)
c.2693_2699delinsTCAAGGG (p.Val898=)
n.2131_2137delinsTCAAGGG
c.3803_3809delinsTCAAGGG (p.Val1268=)
c.3728_3734delinsTCAAGGG (p.Val1243=)
c.2678_2684delinsTCAAGGG (p.Val893=)
n.498_504delinsTCAAGGG
c.2702_2708delinsTCAAGGG (p.Val901=)
c.2753_2759delinsTCAAGGG (p.Val918=)
c.2480_2486delinsTCAAGGG (p.Val827=)
c.2804_2810delinsTCAAGGG (p.Val935=)
c.2714_2720delinsTCAAGGG (p.Val905=)
c.2705_2711delinsTCAAGGG (p.Val902=)
3g.123284661C>ACA354221948ADCY5c.2410G>T (p.Gly804Cys)
c.2698G>T (p.Gly900Cys)
n.2136G>T
c.3808G>T (p.Gly1270Cys)
c.3733G>T (p.Gly1245Cys)
c.2683G>T (p.Gly895Cys)
n.503G>T
c.2707G>T (p.Gly903Cys)
c.2758G>T (p.Gly920Cys)
c.2485G>T (p.Gly829Cys)
c.2809G>T (p.Gly937Cys)
c.2719G>T (p.Gly907Cys)
c.2710G>T (p.Gly904Cys)
3g.123284661C>GCA354221950ADCY5c.2410G>C (p.Gly804Arg)
c.2698G>C (p.Gly900Arg)
n.2136G>C
c.3808G>C (p.Gly1270Arg)
c.3733G>C (p.Gly1245Arg)
c.2683G>C (p.Gly895Arg)
n.503G>C
c.2707G>C (p.Gly903Arg)
c.2758G>C (p.Gly920Arg)
c.2485G>C (p.Gly829Arg)
c.2809G>C (p.Gly937Arg)
c.2719G>C (p.Gly907Arg)
c.2710G>C (p.Gly904Arg)
3g.123284661C>TCA354221952ADCY5c.2410G>A (p.Gly804Ser)
c.2698G>A (p.Gly900Ser)
n.2136G>A
c.3808G>A (p.Gly1270Ser)
c.3733G>A (p.Gly1245Ser)
c.2683G>A (p.Gly895Ser)
n.503G>A
c.2707G>A (p.Gly903Ser)
c.2758G>A (p.Gly920Ser)
c.2485G>A (p.Gly829Ser)
c.2809G>A (p.Gly937Ser)
c.2719G>A (p.Gly907Ser)
c.2710G>A (p.Gly904Ser)
3g.123284669_123284674delCA545690191ADCY5c.2405_2410del (p.Val802_Lys803del)
c.2693_2698del (p.Val898_Lys899del)
n.2131_2136del
c.3803_3808del (p.Val1268_Lys1269del)
c.3728_3733del (p.Val1243_Lys1244del)
c.2678_2683del (p.Val893_Lys894del)
n.498_503del
c.2702_2707del (p.Val901_Lys902del)
c.2753_2758del (p.Val918_Lys919del)
c.2480_2485del (p.Val827_Lys828del)
c.2804_2809del (p.Val935_Lys936del)
c.2714_2719del (p.Val905_Lys906del)
c.2705_2710del (p.Val902_Lys903del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.123284662C>ACA354221954ADCY5c.2409G>T (p.Lys803Asn)
c.2697G>T (p.Lys899Asn)
n.2135G>T
c.3807G>T (p.Lys1269Asn)
c.3732G>T (p.Lys1244Asn)
c.2682G>T (p.Lys894Asn)
n.502G>T
c.2706G>T (p.Lys902Asn)
c.2757G>T (p.Lys919Asn)
c.2484G>T (p.Lys828Asn)
c.2808G>T (p.Lys936Asn)
c.2718G>T (p.Lys906Asn)
c.2709G>T (p.Lys903Asn)
3g.123284662C=CA1398327465ADCY5c.2409G= (p.Lys803=)
c.2697G= (p.Lys899=)
n.2135G=
c.3807G= (p.Lys1269=)
c.3732G= (p.Lys1244=)
c.2682G= (p.Lys894=)
n.502G=
c.2706G= (p.Lys902=)
c.2757G= (p.Lys919=)
c.2484G= (p.Lys828=)
c.2808G= (p.Lys936=)
c.2718G= (p.Lys906=)
c.2709G= (p.Lys903=)
3g.123284662C>GCA354221956ADCY5c.2409G>C (p.Lys803Asn)
c.2697G>C (p.Lys899Asn)
n.2135G>C
c.3807G>C (p.Lys1269Asn)
c.3732G>C (p.Lys1244Asn)
c.2682G>C (p.Lys894Asn)
n.502G>C
c.2706G>C (p.Lys902Asn)
c.2757G>C (p.Lys919Asn)
c.2484G>C (p.Lys828Asn)
c.2808G>C (p.Lys936Asn)
c.2718G>C (p.Lys906Asn)
c.2709G>C (p.Lys903Asn)
3g.123284662C>TCA435297675ADCY5c.2409G>A (p.Lys803=)
c.2697G>A (p.Lys899=)
n.2135G>A
c.3807G>A (p.Lys1269=)
c.3732G>A (p.Lys1244=)
c.2682G>A (p.Lys894=)
n.502G>A
c.2706G>A (p.Lys902=)
c.2757G>A (p.Lys919=)
c.2484G>A (p.Lys828=)
c.2808G>A (p.Lys936=)
c.2718G>A (p.Lys906=)
c.2709G>A (p.Lys903=)
 dbSNP gnomAD v2 gnomAD v4
3g.123284663T>ACA354221958ADCY5c.2408A>T (p.Lys803Met)
c.2696A>T (p.Lys899Met)
n.2134A>T
c.3806A>T (p.Lys1269Met)
c.3731A>T (p.Lys1244Met)
c.2681A>T (p.Lys894Met)
n.501A>T
c.2705A>T (p.Lys902Met)
c.2756A>T (p.Lys919Met)
c.2483A>T (p.Lys828Met)
c.2807A>T (p.Lys936Met)
c.2717A>T (p.Lys906Met)
c.2708A>T (p.Lys903Met)
3g.123284663T>CCA354221960ADCY5c.2408A>G (p.Lys803Arg)
c.2696A>G (p.Lys899Arg)
n.2134A>G
c.3806A>G (p.Lys1269Arg)
c.3731A>G (p.Lys1244Arg)
c.2681A>G (p.Lys894Arg)
n.501A>G
c.2705A>G (p.Lys902Arg)
c.2756A>G (p.Lys919Arg)
c.2483A>G (p.Lys828Arg)
c.2807A>G (p.Lys936Arg)
c.2717A>G (p.Lys906Arg)
c.2708A>G (p.Lys903Arg)
3g.123284663T>GCA354221962ADCY5c.2408A>C (p.Lys803Thr)
c.2696A>C (p.Lys899Thr)
n.2134A>C
c.3806A>C (p.Lys1269Thr)
c.3731A>C (p.Lys1244Thr)
c.2681A>C (p.Lys894Thr)
n.501A>C
c.2705A>C (p.Lys902Thr)
c.2756A>C (p.Lys919Thr)
c.2483A>C (p.Lys828Thr)
c.2807A>C (p.Lys936Thr)
c.2717A>C (p.Lys906Thr)
c.2708A>C (p.Lys903Thr)
3g.123284664T>ACA354221964ADCY5c.2407A>T (p.Lys803Ter)
c.2695A>T (p.Lys899Ter)
n.2133A>T
c.3805A>T (p.Lys1269Ter)
c.3730A>T (p.Lys1244Ter)
c.2680A>T (p.Lys894Ter)
n.500A>T
c.2704A>T (p.Lys902Ter)
c.2755A>T (p.Lys919Ter)
c.2482A>T (p.Lys828Ter)
c.2806A>T (p.Lys936Ter)
c.2716A>T (p.Lys906Ter)
c.2707A>T (p.Lys903Ter)
 dbSNP
3g.123284664T>CCA354221966ADCY5c.2407A>G (p.Lys803Glu)
c.2695A>G (p.Lys899Glu)
n.2133A>G
c.3805A>G (p.Lys1269Glu)
c.3730A>G (p.Lys1244Glu)
c.2680A>G (p.Lys894Glu)
n.500A>G
c.2704A>G (p.Lys902Glu)
c.2755A>G (p.Lys919Glu)
c.2482A>G (p.Lys828Glu)
c.2806A>G (p.Lys936Glu)
c.2716A>G (p.Lys906Glu)
c.2707A>G (p.Lys903Glu)
3g.123284664T>GCA354221968ADCY5c.2407A>C (p.Lys803Gln)
c.2695A>C (p.Lys899Gln)
n.2133A>C
c.3805A>C (p.Lys1269Gln)
c.3730A>C (p.Lys1244Gln)
c.2680A>C (p.Lys894Gln)
n.500A>C
c.2704A>C (p.Lys902Gln)
c.2755A>C (p.Lys919Gln)
c.2482A>C (p.Lys828Gln)
c.2806A>C (p.Lys936Gln)
c.2716A>C (p.Lys906Gln)
c.2707A>C (p.Lys903Gln)
3g.123284664T=CA1398327466ADCY5c.2407A= (p.Lys803=)
c.2695A= (p.Lys899=)
n.2133A=
c.3805A= (p.Lys1269=)
c.3730A= (p.Lys1244=)
c.2680A= (p.Lys894=)
n.500A=
c.2704A= (p.Lys902=)
c.2755A= (p.Lys919=)
c.2482A= (p.Lys828=)
c.2806A= (p.Lys936=)
c.2716A= (p.Lys906=)
c.2707A= (p.Lys903=)
3g.123284665G>ACA435297676ADCY5c.2406C>T (p.Val802=)
c.2694C>T (p.Val898=)
n.2132C>T
c.3804C>T (p.Val1268=)
c.3729C>T (p.Val1243=)
c.2679C>T (p.Val893=)
n.499C>T
c.2703C>T (p.Val901=)
c.2754C>T (p.Val918=)
c.2481C>T (p.Val827=)
c.2805C>T (p.Val935=)
c.2715C>T (p.Val905=)
c.2706C>T (p.Val902=)
 dbSNP
3g.123284665G>CCA435297677ADCY5c.2406C>G (p.Val802=)
c.2694C>G (p.Val898=)
n.2132C>G
c.3804C>G (p.Val1268=)
c.3729C>G (p.Val1243=)
c.2679C>G (p.Val893=)
n.499C>G
c.2703C>G (p.Val901=)
c.2754C>G (p.Val918=)
c.2481C>G (p.Val827=)
c.2805C>G (p.Val935=)
c.2715C>G (p.Val905=)
c.2706C>G (p.Val902=)
3g.123284665G=CA1398327467ADCY5c.2406C= (p.Val802=)
c.2694C= (p.Val898=)
n.2132C=
c.3804C= (p.Val1268=)
c.3729C= (p.Val1243=)
c.2679C= (p.Val893=)
n.499C=
c.2703C= (p.Val901=)
c.2754C= (p.Val918=)
c.2481C= (p.Val827=)
c.2805C= (p.Val935=)
c.2715C= (p.Val905=)
c.2706C= (p.Val902=)
3g.123284665G>TCA435297678ADCY5c.2406C>A (p.Val802=)
c.2694C>A (p.Val898=)
n.2132C>A
c.3804C>A (p.Val1268=)
c.3729C>A (p.Val1243=)
c.2679C>A (p.Val893=)
n.499C>A
c.2703C>A (p.Val901=)
c.2754C>A (p.Val918=)
c.2481C>A (p.Val827=)
c.2805C>A (p.Val935=)
c.2715C>A (p.Val905=)
c.2706C>A (p.Val902=)
 gnomAD v4
3g.123284666A>CCA354221970ADCY5c.2405T>G (p.Val802Gly)
c.2693T>G (p.Val898Gly)
n.2131T>G
c.3803T>G (p.Val1268Gly)
c.3728T>G (p.Val1243Gly)
c.2678T>G (p.Val893Gly)
n.498T>G
c.2702T>G (p.Val901Gly)
c.2753T>G (p.Val918Gly)
c.2480T>G (p.Val827Gly)
c.2804T>G (p.Val935Gly)
c.2714T>G (p.Val905Gly)
c.2705T>G (p.Val902Gly)
3g.123284666A>GCA354221972ADCY5c.2405T>C (p.Val802Ala)
c.2693T>C (p.Val898Ala)
n.2131T>C
c.3803T>C (p.Val1268Ala)
c.3728T>C (p.Val1243Ala)
c.2678T>C (p.Val893Ala)
n.498T>C
c.2702T>C (p.Val901Ala)
c.2753T>C (p.Val918Ala)
c.2480T>C (p.Val827Ala)
c.2804T>C (p.Val935Ala)
c.2714T>C (p.Val905Ala)
c.2705T>C (p.Val902Ala)
3g.123284666A>TCA354221974ADCY5c.2405T>A (p.Val802Asp)
c.2693T>A (p.Val898Asp)
n.2131T>A
c.3803T>A (p.Val1268Asp)
c.3728T>A (p.Val1243Asp)
c.2678T>A (p.Val893Asp)
n.498T>A
c.2702T>A (p.Val901Asp)
c.2753T>A (p.Val918Asp)
c.2480T>A (p.Val827Asp)
c.2804T>A (p.Val935Asp)
c.2714T>A (p.Val905Asp)
c.2705T>A (p.Val902Asp)
3g.123284667C>ACA354221978ADCY5c.2404G>T (p.Val802Phe)
c.2692G>T (p.Val898Phe)
n.2130G>T
c.3802G>T (p.Val1268Phe)
c.3727G>T (p.Val1243Phe)
c.2677G>T (p.Val893Phe)
n.497G>T
c.2701G>T (p.Val901Phe)
c.2752G>T (p.Val918Phe)
c.2479G>T (p.Val827Phe)
c.2803G>T (p.Val935Phe)
c.2713G>T (p.Val905Phe)
c.2704G>T (p.Val902Phe)
3g.123284667C>GCA354221981ADCY5c.2404G>C (p.Val802Leu)
c.2692G>C (p.Val898Leu)
n.2130G>C
c.3802G>C (p.Val1268Leu)
c.3727G>C (p.Val1243Leu)
c.2677G>C (p.Val893Leu)
n.497G>C
c.2701G>C (p.Val901Leu)
c.2752G>C (p.Val918Leu)
c.2479G>C (p.Val827Leu)
c.2803G>C (p.Val935Leu)
c.2713G>C (p.Val905Leu)
c.2704G>C (p.Val902Leu)
3g.123284667C>TCA354221976ADCY5c.2404G>A (p.Val802Ile)
c.2692G>A (p.Val898Ile)
n.2130G>A
c.3802G>A (p.Val1268Ile)
c.3727G>A (p.Val1243Ile)
c.2677G>A (p.Val893Ile)
n.497G>A
c.2701G>A (p.Val901Ile)
c.2752G>A (p.Val918Ile)
c.2479G>A (p.Val827Ile)
c.2803G>A (p.Val935Ile)
c.2713G>A (p.Val905Ile)
c.2704G>A (p.Val902Ile)
3g.123284668C>ACA354221983ADCY5c.2403G>T (p.Lys801Asn)
c.2691G>T (p.Lys897Asn)
n.2129G>T
c.3801G>T (p.Lys1267Asn)
c.3726G>T (p.Lys1242Asn)
c.2676G>T (p.Lys892Asn)
n.496G>T
c.2700G>T (p.Lys900Asn)
c.2751G>T (p.Lys917Asn)
c.2478G>T (p.Lys826Asn)
c.2802G>T (p.Lys934Asn)
c.2712G>T (p.Lys904Asn)
c.2703G>T (p.Lys901Asn)
3g.123284668C>GCA354221985ADCY5c.2403G>C (p.Lys801Asn)
c.2691G>C (p.Lys897Asn)
n.2129G>C
c.3801G>C (p.Lys1267Asn)
c.3726G>C (p.Lys1242Asn)
c.2676G>C (p.Lys892Asn)
n.496G>C
c.2700G>C (p.Lys900Asn)
c.2751G>C (p.Lys917Asn)
c.2478G>C (p.Lys826Asn)
c.2802G>C (p.Lys934Asn)
c.2712G>C (p.Lys904Asn)
c.2703G>C (p.Lys901Asn)
3g.123284668C>TCA435297679ADCY5c.2403G>A (p.Lys801=)
c.2691G>A (p.Lys897=)
n.2129G>A
c.3801G>A (p.Lys1267=)
c.3726G>A (p.Lys1242=)
c.2676G>A (p.Lys892=)
n.496G>A
c.2700G>A (p.Lys900=)
c.2751G>A (p.Lys917=)
c.2478G>A (p.Lys826=)
c.2802G>A (p.Lys934=)
c.2712G>A (p.Lys904=)
c.2703G>A (p.Lys901=)
 gnomAD v4
3g.123284669T>ACA2576692ADCY5c.2402A>T (p.Lys801Met)
c.2690A>T (p.Lys897Met)
n.2128A>T
c.3800A>T (p.Lys1267Met)
c.3725A>T (p.Lys1242Met)
c.2675A>T (p.Lys892Met)
n.495A>T
c.2699A>T (p.Lys900Met)
c.2750A>T (p.Lys917Met)
c.2477A>T (p.Lys826Met)
c.2801A>T (p.Lys934Met)
c.2711A>T (p.Lys904Met)
c.2702A>T (p.Lys901Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.123284669T>CCA354221988ADCY5c.2402A>G (p.Lys801Arg)
c.2690A>G (p.Lys897Arg)
n.2128A>G
c.3800A>G (p.Lys1267Arg)
c.3725A>G (p.Lys1242Arg)
c.2675A>G (p.Lys892Arg)
n.495A>G
c.2699A>G (p.Lys900Arg)
c.2750A>G (p.Lys917Arg)
c.2477A>G (p.Lys826Arg)
c.2801A>G (p.Lys934Arg)
c.2711A>G (p.Lys904Arg)
c.2702A>G (p.Lys901Arg)
 dbSNP gnomAD v4
3g.123284669T>GCA354221990ADCY5c.2402A>C (p.Lys801Thr)
c.2690A>C (p.Lys897Thr)
n.2128A>C
c.3800A>C (p.Lys1267Thr)
c.3725A>C (p.Lys1242Thr)
c.2675A>C (p.Lys892Thr)
n.495A>C
c.2699A>C (p.Lys900Thr)
c.2750A>C (p.Lys917Thr)
c.2477A>C (p.Lys826Thr)
c.2801A>C (p.Lys934Thr)
c.2711A>C (p.Lys904Thr)
c.2702A>C (p.Lys901Thr)
3g.123284669T=CA1398327468ADCY5c.2402A= (p.Lys801=)
c.2690A= (p.Lys897=)
n.2128A=
c.3800A= (p.Lys1267=)
c.3725A= (p.Lys1242=)
c.2675A= (p.Lys892=)
n.495A=
c.2699A= (p.Lys900=)
c.2750A= (p.Lys917=)
c.2477A= (p.Lys826=)
c.2801A= (p.Lys934=)
c.2711A= (p.Lys904=)
c.2702A= (p.Lys901=)
3g.123284670T>ACA354221995ADCY5c.2401A>T (p.Lys801Ter)
c.2689A>T (p.Lys897Ter)
n.2127A>T
c.3799A>T (p.Lys1267Ter)
c.3724A>T (p.Lys1242Ter)
c.2674A>T (p.Lys892Ter)
n.494A>T
c.2698A>T (p.Lys900Ter)
c.2749A>T (p.Lys917Ter)
c.2476A>T (p.Lys826Ter)
c.2800A>T (p.Lys934Ter)
c.2710A>T (p.Lys904Ter)
c.2701A>T (p.Lys901Ter)
3g.123284670T>CCA2576693ADCY5c.2401A>G (p.Lys801Glu)
c.2689A>G (p.Lys897Glu)
n.2127A>G
c.3799A>G (p.Lys1267Glu)
c.3724A>G (p.Lys1242Glu)
c.2674A>G (p.Lys892Glu)
n.494A>G
c.2698A>G (p.Lys900Glu)
c.2749A>G (p.Lys917Glu)
c.2476A>G (p.Lys826Glu)
c.2800A>G (p.Lys934Glu)
c.2710A>G (p.Lys904Glu)
c.2701A>G (p.Lys901Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.123284670T>GCA354221992ADCY5c.2401A>C (p.Lys801Gln)
c.2689A>C (p.Lys897Gln)
n.2127A>C
c.3799A>C (p.Lys1267Gln)
c.3724A>C (p.Lys1242Gln)
c.2674A>C (p.Lys892Gln)
n.494A>C
c.2698A>C (p.Lys900Gln)
c.2749A>C (p.Lys917Gln)
c.2476A>C (p.Lys826Gln)
c.2800A>C (p.Lys934Gln)
c.2710A>C (p.Lys904Gln)
c.2701A>C (p.Lys901Gln)
3g.123284670T=CA1398327469ADCY5c.2401A= (p.Lys801=)
c.2689A= (p.Lys897=)
n.2127A=
c.3799A= (p.Lys1267=)
c.3724A= (p.Lys1242=)
c.2674A= (p.Lys892=)
n.494A=
c.2698A= (p.Lys900=)
c.2749A= (p.Lys917=)
c.2476A= (p.Lys826=)
c.2800A= (p.Lys934=)
c.2710A= (p.Lys904=)
c.2701A= (p.Lys901=)
3g.123284671G>ACA435297680ADCY5c.2400C>T (p.Val800=)
c.2688C>T (p.Val896=)
n.2126C>T
c.3798C>T (p.Val1266=)
c.3723C>T (p.Val1241=)
c.2673C>T (p.Val891=)
n.493C>T
c.2697C>T (p.Val899=)
c.2748C>T (p.Val916=)
c.2475C>T (p.Val825=)
c.2799C>T (p.Val933=)
c.2709C>T (p.Val903=)
c.2700C>T (p.Val900=)
3g.123284671G>CCA435297681ADCY5c.2400C>G (p.Val800=)
c.2688C>G (p.Val896=)
n.2126C>G
c.3798C>G (p.Val1266=)
c.3723C>G (p.Val1241=)
c.2673C>G (p.Val891=)
n.493C>G
c.2697C>G (p.Val899=)
c.2748C>G (p.Val916=)
c.2475C>G (p.Val825=)
c.2799C>G (p.Val933=)
c.2709C>G (p.Val903=)
c.2700C>G (p.Val900=)
3g.123284671G>TCA435297682ADCY5c.2400C>A (p.Val800=)
c.2688C>A (p.Val896=)
n.2126C>A
c.3798C>A (p.Val1266=)
c.3723C>A (p.Val1241=)
c.2673C>A (p.Val891=)
n.493C>A
c.2697C>A (p.Val899=)
c.2748C>A (p.Val916=)
c.2475C>A (p.Val825=)
c.2799C>A (p.Val933=)
c.2709C>A (p.Val903=)
c.2700C>A (p.Val900=)
3g.123284672A>CCA354221997ADCY5c.2399T>G (p.Val800Gly)
c.2687T>G (p.Val896Gly)
n.2125T>G
c.3797T>G (p.Val1266Gly)
c.3722T>G (p.Val1241Gly)
c.2672T>G (p.Val891Gly)
n.492T>G
c.2696T>G (p.Val899Gly)
c.2747T>G (p.Val916Gly)
c.2474T>G (p.Val825Gly)
c.2798T>G (p.Val933Gly)
c.2708T>G (p.Val903Gly)
c.2699T>G (p.Val900Gly)
3g.123284672A>GCA354222000ADCY5c.2399T>C (p.Val800Ala)
c.2687T>C (p.Val896Ala)
n.2125T>C
c.3797T>C (p.Val1266Ala)
c.3722T>C (p.Val1241Ala)
c.2672T>C (p.Val891Ala)
n.492T>C
c.2696T>C (p.Val899Ala)
c.2747T>C (p.Val916Ala)
c.2474T>C (p.Val825Ala)
c.2798T>C (p.Val933Ala)
c.2708T>C (p.Val903Ala)
c.2699T>C (p.Val900Ala)
3g.123284672A>TCA354222002ADCY5c.2399T>A (p.Val800Asp)
c.2687T>A (p.Val896Asp)
n.2125T>A
c.3797T>A (p.Val1266Asp)
c.3722T>A (p.Val1241Asp)
c.2672T>A (p.Val891Asp)
n.492T>A
c.2696T>A (p.Val899Asp)
c.2747T>A (p.Val916Asp)
c.2474T>A (p.Val825Asp)
c.2798T>A (p.Val933Asp)
c.2708T>A (p.Val903Asp)
c.2699T>A (p.Val900Asp)
3g.123284673C>ACA354222004ADCY5c.2398G>T (p.Val800Phe)
c.2686G>T (p.Val896Phe)
n.2124G>T
c.3796G>T (p.Val1266Phe)
c.3721G>T (p.Val1241Phe)
c.2671G>T (p.Val891Phe)
n.491G>T
c.2695G>T (p.Val899Phe)
c.2746G>T (p.Val916Phe)
c.2473G>T (p.Val825Phe)
c.2797G>T (p.Val933Phe)
c.2707G>T (p.Val903Phe)
c.2698G>T (p.Val900Phe)
3g.123284673C>GCA354222006ADCY5c.2398G>C (p.Val800Leu)
c.2686G>C (p.Val896Leu)
n.2124G>C
c.3796G>C (p.Val1266Leu)
c.3721G>C (p.Val1241Leu)
c.2671G>C (p.Val891Leu)
n.491G>C
c.2695G>C (p.Val899Leu)
c.2746G>C (p.Val916Leu)
c.2473G>C (p.Val825Leu)
c.2797G>C (p.Val933Leu)
c.2707G>C (p.Val903Leu)
c.2698G>C (p.Val900Leu)
3g.123284673C>TCA354222008ADCY5c.2398G>A (p.Val800Ile)
c.2686G>A (p.Val896Ile)
n.2124G>A
c.3796G>A (p.Val1266Ile)
c.3721G>A (p.Val1241Ile)
c.2671G>A (p.Val891Ile)
n.491G>A
c.2695G>A (p.Val899Ile)
c.2746G>A (p.Val916Ile)
c.2473G>A (p.Val825Ile)
c.2797G>A (p.Val933Ile)
c.2707G>A (p.Val903Ile)
c.2698G>A (p.Val900Ile)
 gnomAD v4
3g.123284674C>ACA435297685ADCY5c.2397G>T (p.Val799=)
c.2685G>T (p.Val895=)
n.2123G>T
c.3795G>T (p.Val1265=)
c.3720G>T (p.Val1240=)
c.2670G>T (p.Val890=)
n.490G>T
c.2694G>T (p.Val898=)
c.2745G>T (p.Val915=)
c.2472G>T (p.Val824=)
c.2796G>T (p.Val932=)
c.2706G>T (p.Val902=)
c.2697G>T (p.Val899=)
3g.123284674C>GCA435297683ADCY5c.2397G>C (p.Val799=)
c.2685G>C (p.Val895=)
n.2123G>C
c.3795G>C (p.Val1265=)
c.3720G>C (p.Val1240=)
c.2670G>C (p.Val890=)
n.490G>C
c.2694G>C (p.Val898=)
c.2745G>C (p.Val915=)
c.2472G>C (p.Val824=)
c.2796G>C (p.Val932=)
c.2706G>C (p.Val902=)
c.2697G>C (p.Val899=)
3g.123284674C>TCA435297684ADCY5c.2397G>A (p.Val799=)
c.2685G>A (p.Val895=)
n.2123G>A
c.3795G>A (p.Val1265=)
c.3720G>A (p.Val1240=)
c.2670G>A (p.Val890=)
n.490G>A
c.2694G>A (p.Val898=)
c.2745G>A (p.Val915=)
c.2472G>A (p.Val824=)
c.2796G>A (p.Val932=)
c.2706G>A (p.Val902=)
c.2697G>A (p.Val899=)
3g.123284675A>CCA354222010ADCY5c.2396T>G (p.Val799Gly)
c.2684T>G (p.Val895Gly)
n.2122T>G
c.3794T>G (p.Val1265Gly)
c.3719T>G (p.Val1240Gly)
c.2669T>G (p.Val890Gly)
n.489T>G
c.2693T>G (p.Val898Gly)
c.2744T>G (p.Val915Gly)
c.2471T>G (p.Val824Gly)
c.2795T>G (p.Val932Gly)
c.2705T>G (p.Val902Gly)
c.2696T>G (p.Val899Gly)
3g.123284675A>GCA354222014ADCY5c.2396T>C (p.Val799Ala)
c.2684T>C (p.Val895Ala)
n.2122T>C
c.3794T>C (p.Val1265Ala)
c.3719T>C (p.Val1240Ala)
c.2669T>C (p.Val890Ala)
n.489T>C
c.2693T>C (p.Val898Ala)
c.2744T>C (p.Val915Ala)
c.2471T>C (p.Val824Ala)
c.2795T>C (p.Val932Ala)
c.2705T>C (p.Val902Ala)
c.2696T>C (p.Val899Ala)
3g.123284675A>TCA354222012ADCY5c.2396T>A (p.Val799Glu)
c.2684T>A (p.Val895Glu)
n.2122T>A
c.3794T>A (p.Val1265Glu)
c.3719T>A (p.Val1240Glu)
c.2669T>A (p.Val890Glu)
n.489T>A
c.2693T>A (p.Val898Glu)
c.2744T>A (p.Val915Glu)
c.2471T>A (p.Val824Glu)
c.2795T>A (p.Val932Glu)
c.2705T>A (p.Val902Glu)
c.2696T>A (p.Val899Glu)
3g.123284676C>ACA354222016ADCY5c.2395G>T (p.Val799Leu)
c.2683G>T (p.Val895Leu)
n.2121G>T
c.3793G>T (p.Val1265Leu)
c.3718G>T (p.Val1240Leu)
c.2668G>T (p.Val890Leu)
n.488G>T
c.2692G>T (p.Val898Leu)
c.2743G>T (p.Val915Leu)
c.2470G>T (p.Val824Leu)
c.2794G>T (p.Val932Leu)
c.2704G>T (p.Val902Leu)
c.2695G>T (p.Val899Leu)
 gnomAD v4
3g.123284676C=CA1398327470ADCY5c.2395G= (p.Val799=)
c.2683G= (p.Val895=)
n.2121G=
c.3793G= (p.Val1265=)
c.3718G= (p.Val1240=)
c.2668G= (p.Val890=)
n.488G=
c.2692G= (p.Val898=)
c.2743G= (p.Val915=)
c.2470G= (p.Val824=)
c.2794G= (p.Val932=)
c.2704G= (p.Val902=)
c.2695G= (p.Val899=)
3g.123284676C>GCA354222018ADCY5c.2395G>C (p.Val799Leu)
c.2683G>C (p.Val895Leu)
n.2121G>C
c.3793G>C (p.Val1265Leu)
c.3718G>C (p.Val1240Leu)
c.2668G>C (p.Val890Leu)
n.488G>C
c.2692G>C (p.Val898Leu)
c.2743G>C (p.Val915Leu)
c.2470G>C (p.Val824Leu)
c.2794G>C (p.Val932Leu)
c.2704G>C (p.Val902Leu)
c.2695G>C (p.Val899Leu)
 gnomAD v4
3g.123284676C>TCA2576694ADCY5c.2395G>A (p.Val799Met)
c.2683G>A (p.Val895Met)
n.2121G>A
c.3793G>A (p.Val1265Met)
c.3718G>A (p.Val1240Met)
c.2668G>A (p.Val890Met)
n.488G>A
c.2692G>A (p.Val898Met)
c.2743G>A (p.Val915Met)
c.2470G>A (p.Val824Met)
c.2794G>A (p.Val932Met)
c.2704G>A (p.Val902Met)
c.2695G>A (p.Val899Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.123284676dupCA2667292098ADCY5c.2395dup (p.Val799GlyfsTer?)
c.2683dup (p.Val895GlyfsTer?)
n.2121dup
c.3793dup (p.Val1265GlyfsTer?)
c.3718dup (p.Val1240GlyfsTer?)
c.2668dup (p.Val890GlyfsTer?)
n.488dup
c.2692dup (p.Val898GlyfsTer?)
c.2743dup (p.Val915GlyfsTer?)
c.2470dup (p.Val824GlyfsTer?)
c.2794dup (p.Val932GlyfsTer?)
c.2704dup (p.Val902GlyfsTer?)
c.2695dup (p.Val899GlyfsTer?)
 gnomAD v4
3g.123284677G>ACA2576695ADCY5c.2394C>T (p.Gly798=)
c.2682C>T (p.Gly894=)
n.2120C>T
c.3792C>T (p.Gly1264=)
c.3717C>T (p.Gly1239=)
c.2667C>T (p.Gly889=)
n.487C>T
c.2691C>T (p.Gly897=)
c.2742C>T (p.Gly914=)
c.2469C>T (p.Gly823=)
c.2793C>T (p.Gly931=)
c.2703C>T (p.Gly901=)
c.2694C>T (p.Gly898=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.123284677G>CCA435297686ADCY5c.2394C>G (p.Gly798=)
c.2682C>G (p.Gly894=)
n.2120C>G
c.3792C>G (p.Gly1264=)
c.3717C>G (p.Gly1239=)
c.2667C>G (p.Gly889=)
n.487C>G
c.2691C>G (p.Gly897=)
c.2742C>G (p.Gly914=)
c.2469C>G (p.Gly823=)
c.2793C>G (p.Gly931=)
c.2703C>G (p.Gly901=)
c.2694C>G (p.Gly898=)
3g.123284677G=CA1398327471ADCY5c.2394C= (p.Gly798=)
c.2682C= (p.Gly894=)
n.2120C=
c.3792C= (p.Gly1264=)
c.3717C= (p.Gly1239=)
c.2667C= (p.Gly889=)
n.487C=
c.2691C= (p.Gly897=)
c.2742C= (p.Gly914=)
c.2469C= (p.Gly823=)
c.2793C= (p.Gly931=)
c.2703C= (p.Gly901=)
c.2694C= (p.Gly898=)
3g.123284677G>TCA435297687ADCY5c.2394C>A (p.Gly798=)
c.2682C>A (p.Gly894=)
n.2120C>A
c.3792C>A (p.Gly1264=)
c.3717C>A (p.Gly1239=)
c.2667C>A (p.Gly889=)
n.487C>A
c.2691C>A (p.Gly897=)
c.2742C>A (p.Gly914=)
c.2469C>A (p.Gly823=)
c.2793C>A (p.Gly931=)
c.2703C>A (p.Gly901=)
c.2694C>A (p.Gly898=)
 gnomAD v4
3g.123284678C>ACA354222023ADCY5c.2393G>T (p.Gly798Val)
c.2681G>T (p.Gly894Val)
n.2119G>T
c.3791G>T (p.Gly1264Val)
c.3716G>T (p.Gly1239Val)
c.2666G>T (p.Gly889Val)
n.486G>T
c.2690G>T (p.Gly897Val)
c.2741G>T (p.Gly914Val)
c.2468G>T (p.Gly823Val)
c.2792G>T (p.Gly931Val)
c.2702G>T (p.Gly901Val)
c.2693G>T (p.Gly898Val)
3g.123284678C=CA1398327472ADCY5c.2393G= (p.Gly798=)
c.2681G= (p.Gly894=)
n.2119G=
c.3791G= (p.Gly1264=)
c.3716G= (p.Gly1239=)
c.2666G= (p.Gly889=)
n.486G=
c.2690G= (p.Gly897=)
c.2741G= (p.Gly914=)
c.2468G= (p.Gly823=)
c.2792G= (p.Gly931=)
c.2702G= (p.Gly901=)
c.2693G= (p.Gly898=)
3g.123284678C>GCA354222025ADCY5c.2393G>C (p.Gly798Ala)
c.2681G>C (p.Gly894Ala)
n.2119G>C
c.3791G>C (p.Gly1264Ala)
c.3716G>C (p.Gly1239Ala)
c.2666G>C (p.Gly889Ala)
n.486G>C
c.2690G>C (p.Gly897Ala)
c.2741G>C (p.Gly914Ala)
c.2468G>C (p.Gly823Ala)
c.2792G>C (p.Gly931Ala)
c.2702G>C (p.Gly901Ala)
c.2693G>C (p.Gly898Ala)
3g.123284678C>TCA354222027ADCY5c.2393G>A (p.Gly798Asp)
c.2681G>A (p.Gly894Asp)
n.2119G>A
c.3791G>A (p.Gly1264Asp)
c.3716G>A (p.Gly1239Asp)
c.2666G>A (p.Gly889Asp)
n.486G>A
c.2690G>A (p.Gly897Asp)
c.2741G>A (p.Gly914Asp)
c.2468G>A (p.Gly823Asp)
c.2792G>A (p.Gly931Asp)
c.2702G>A (p.Gly901Asp)
c.2693G>A (p.Gly898Asp)
 dbSNP
3g.123284678_123284679insAGCCCTGCGGGCTGGAGCATGGCTTCCCCGCCACCCA2667292117ADCY5c.2393_2394insGTGGCGGGGAAGCCATGCTCCAGCCCGCAGGGCTG (p.Val799TrpfsTer22)
c.2681_2682insGTGGCGGGGAAGCCATGCTCCAGCCCGCAGGGCTG (p.Val895TrpfsTer22)
n.2119_2120insGTGGCGGGGAAGCCATGCTCCAGCCCGCAGGGCTG
c.3791_3792insGTGGCGGGGAAGCCATGCTCCAGCCCGCAGGGCTG (p.Val1265TrpfsTer22)
c.3716_3717insGTGGCGGGGAAGCCATGCTCCAGCCCGCAGGGCTG (p.Val1240TrpfsTer22)
c.2666_2667insGTGGCGGGGAAGCCATGCTCCAGCCCGCAGGGCTG (p.Val890TrpfsTer22)
n.486_487insGTGGCGGGGAAGCCATGCTCCAGCCCGCAGGGCTG
c.2690_2691insGTGGCGGGGAAGCCATGCTCCAGCCCGCAGGGCTG (p.Val898TrpfsTer22)
c.2741_2742insGTGGCGGGGAAGCCATGCTCCAGCCCGCAGGGCTG (p.Val915TrpfsTer22)
c.2468_2469insGTGGCGGGGAAGCCATGCTCCAGCCCGCAGGGCTG (p.Val824TrpfsTer22)
c.2792_2793insGTGGCGGGGAAGCCATGCTCCAGCCCGCAGGGCTG (p.Val932TrpfsTer22)
c.2702_2703insGTGGCGGGGAAGCCATGCTCCAGCCCGCAGGGCTG (p.Val902TrpfsTer22)
c.2693_2694insGTGGCGGGGAAGCCATGCTCCAGCCCGCAGGGCTG (p.Val899TrpfsTer22)
 gnomAD v4
3g.123284679C>ACA354222029ADCY5c.2392G>T (p.Gly798Cys)
c.2680G>T (p.Gly894Cys)
n.2118G>T
c.3790G>T (p.Gly1264Cys)
c.3715G>T (p.Gly1239Cys)
c.2665G>T (p.Gly889Cys)
n.485G>T
c.2689G>T (p.Gly897Cys)
c.2740G>T (p.Gly914Cys)
c.2467G>T (p.Gly823Cys)
c.2791G>T (p.Gly931Cys)
c.2701G>T (p.Gly901Cys)
c.2692G>T (p.Gly898Cys)
3g.123284679C=CA1398327473ADCY5c.2392G= (p.Gly798=)
c.2680G= (p.Gly894=)
n.2118G=
c.3790G= (p.Gly1264=)
c.3715G= (p.Gly1239=)
c.2665G= (p.Gly889=)
n.485G=
c.2689G= (p.Gly897=)
c.2740G= (p.Gly914=)
c.2467G= (p.Gly823=)
c.2791G= (p.Gly931=)
c.2701G= (p.Gly901=)
c.2692G= (p.Gly898=)
3g.123284679C>GCA354222031ADCY5c.2392G>C (p.Gly798Arg)
c.2680G>C (p.Gly894Arg)
n.2118G>C
c.3790G>C (p.Gly1264Arg)
c.3715G>C (p.Gly1239Arg)
c.2665G>C (p.Gly889Arg)
n.485G>C
c.2689G>C (p.Gly897Arg)
c.2740G>C (p.Gly914Arg)
c.2467G>C (p.Gly823Arg)
c.2791G>C (p.Gly931Arg)
c.2701G>C (p.Gly901Arg)
c.2692G>C (p.Gly898Arg)
3g.123284679C>TCA354222033ADCY5c.2392G>A (p.Gly798Ser)
c.2680G>A (p.Gly894Ser)
n.2118G>A
c.3790G>A (p.Gly1264Ser)
c.3715G>A (p.Gly1239Ser)
c.2665G>A (p.Gly889Ser)
n.485G>A
c.2689G>A (p.Gly897Ser)
c.2740G>A (p.Gly914Ser)
c.2467G>A (p.Gly823Ser)
c.2791G>A (p.Gly931Ser)
c.2701G>A (p.Gly901Ser)
c.2692G>A (p.Gly898Ser)
 dbSNP gnomAD v2
3g.123284680C>ACA435297688ADCY5c.2391G>T (p.Arg797=)
c.2679G>T (p.Arg893=)
n.2117G>T
c.3789G>T (p.Arg1263=)
c.3714G>T (p.Arg1238=)
c.2664G>T (p.Arg888=)
n.484G>T
c.2688G>T (p.Arg896=)
c.2739G>T (p.Arg913=)
c.2466G>T (p.Arg822=)
c.2790G>T (p.Arg930=)
c.2700G>T (p.Arg900=)
c.2691G>T (p.Arg897=)
3g.123284680C>GCA435297690ADCY5c.2391G>C (p.Arg797=)
c.2679G>C (p.Arg893=)
n.2117G>C
c.3789G>C (p.Arg1263=)
c.3714G>C (p.Arg1238=)
c.2664G>C (p.Arg888=)
n.484G>C
c.2688G>C (p.Arg896=)
c.2739G>C (p.Arg913=)
c.2466G>C (p.Arg822=)
c.2790G>C (p.Arg930=)
c.2700G>C (p.Arg900=)
c.2691G>C (p.Arg897=)
3g.123284680C>TCA435297689ADCY5c.2391G>A (p.Arg797=)
c.2679G>A (p.Arg893=)
n.2117G>A
c.3789G>A (p.Arg1263=)
c.3714G>A (p.Arg1238=)
c.2664G>A (p.Arg888=)
n.484G>A
c.2688G>A (p.Arg896=)
c.2739G>A (p.Arg913=)
c.2466G>A (p.Arg822=)
c.2790G>A (p.Arg930=)
c.2700G>A (p.Arg900=)
c.2691G>A (p.Arg897=)
3g.123284681C>ACA354222035ADCY5c.2390G>T (p.Arg797Leu)
c.2678G>T (p.Arg893Leu)
n.2116G>T
c.3788G>T (p.Arg1263Leu)
c.3713G>T (p.Arg1238Leu)
c.2663G>T (p.Arg888Leu)
n.483G>T
c.2687G>T (p.Arg896Leu)
c.2738G>T (p.Arg913Leu)
c.2465G>T (p.Arg822Leu)
c.2789G>T (p.Arg930Leu)
c.2699G>T (p.Arg900Leu)
c.2690G>T (p.Arg897Leu)
 dbSNP gnomAD v4
3g.123284681C=CA1398327474ADCY5c.2390G= (p.Arg797=)
c.2678G= (p.Arg893=)
n.2116G=
c.3788G= (p.Arg1263=)
c.3713G= (p.Arg1238=)
c.2663G= (p.Arg888=)
n.483G=
c.2687G= (p.Arg896=)
c.2738G= (p.Arg913=)
c.2465G= (p.Arg822=)
c.2789G= (p.Arg930=)
c.2699G= (p.Arg900=)
c.2690G= (p.Arg897=)
3g.123284681C>GCA354222039ADCY5c.2390G>C (p.Arg797Pro)
c.2678G>C (p.Arg893Pro)
n.2116G>C
c.3788G>C (p.Arg1263Pro)
c.3713G>C (p.Arg1238Pro)
c.2663G>C (p.Arg888Pro)
n.483G>C
c.2687G>C (p.Arg896Pro)
c.2738G>C (p.Arg913Pro)
c.2465G>C (p.Arg822Pro)
c.2789G>C (p.Arg930Pro)
c.2699G>C (p.Arg900Pro)
c.2690G>C (p.Arg897Pro)
 COSMIC
3g.123284681C>TCA354222037ADCY5c.2390G>A (p.Arg797Gln)
c.2678G>A (p.Arg893Gln)
n.2116G>A
c.3788G>A (p.Arg1263Gln)
c.3713G>A (p.Arg1238Gln)
c.2663G>A (p.Arg888Gln)
n.483G>A
c.2687G>A (p.Arg896Gln)
c.2738G>A (p.Arg913Gln)
c.2465G>A (p.Arg822Gln)
c.2789G>A (p.Arg930Gln)
c.2699G>A (p.Arg900Gln)
c.2690G>A (p.Arg897Gln)
 dbSNP gnomAD v2 gnomAD v4
3g.123284682G>ACA354222041ADCY5c.2389C>T (p.Arg797Trp)
c.2677C>T (p.Arg893Trp)
n.2115C>T
c.3787C>T (p.Arg1263Trp)
c.3712C>T (p.Arg1238Trp)
c.2662C>T (p.Arg888Trp)
n.482C>T
c.2686C>T (p.Arg896Trp)
c.2737C>T (p.Arg913Trp)
c.2464C>T (p.Arg822Trp)
c.2788C>T (p.Arg930Trp)
c.2698C>T (p.Arg900Trp)
c.2689C>T (p.Arg897Trp)
 ClinVar dbSNP gnomAD v4
3g.123284682G>CCA354222043ADCY5c.2389C>G (p.Arg797Gly)
c.2677C>G (p.Arg893Gly)
n.2115C>G
c.3787C>G (p.Arg1263Gly)
c.3712C>G (p.Arg1238Gly)
c.2662C>G (p.Arg888Gly)
n.482C>G
c.2686C>G (p.Arg896Gly)
c.2737C>G (p.Arg913Gly)
c.2464C>G (p.Arg822Gly)
c.2788C>G (p.Arg930Gly)
c.2698C>G (p.Arg900Gly)
c.2689C>G (p.Arg897Gly)
3g.123284682G>TCA435297691ADCY5c.2389C>A (p.Arg797=)
c.2677C>A (p.Arg893=)
n.2115C>A
c.3787C>A (p.Arg1263=)
c.3712C>A (p.Arg1238=)
c.2662C>A (p.Arg888=)
n.482C>A
c.2686C>A (p.Arg896=)
c.2737C>A (p.Arg913=)
c.2464C>A (p.Arg822=)
c.2788C>A (p.Arg930=)
c.2698C>A (p.Arg900=)
c.2689C>A (p.Arg897=)
3g.123284683G>ACA435297692ADCY5c.2388C>T (p.Cys796=)
c.2676C>T (p.Cys892=)
n.2114C>T
c.3786C>T (p.Cys1262=)
c.3711C>T (p.Cys1237=)
c.2661C>T (p.Cys887=)
n.481C>T
c.2685C>T (p.Cys895=)
c.2736C>T (p.Cys912=)
c.2463C>T (p.Cys821=)
c.2787C>T (p.Cys929=)
c.2697C>T (p.Cys899=)
c.2688C>T (p.Cys896=)
3g.123284683G>CCA354222046ADCY5c.2388C>G (p.Cys796Trp)
c.2676C>G (p.Cys892Trp)
n.2114C>G
c.3786C>G (p.Cys1262Trp)
c.3711C>G (p.Cys1237Trp)
c.2661C>G (p.Cys887Trp)
n.481C>G
c.2685C>G (p.Cys895Trp)
c.2736C>G (p.Cys912Trp)
c.2463C>G (p.Cys821Trp)
c.2787C>G (p.Cys929Trp)
c.2697C>G (p.Cys899Trp)
c.2688C>G (p.Cys896Trp)
3g.123284683G=CA1398327475ADCY5c.2388C= (p.Cys796=)
c.2676C= (p.Cys892=)
n.2114C=
c.3786C= (p.Cys1262=)
c.3711C= (p.Cys1237=)
c.2661C= (p.Cys887=)
n.481C=
c.2685C= (p.Cys895=)
c.2736C= (p.Cys912=)
c.2463C= (p.Cys821=)
c.2787C= (p.Cys929=)
c.2697C= (p.Cys899=)
c.2688C= (p.Cys896=)
3g.123284683G>TCA354222048ADCY5c.2388C>A (p.Cys796Ter)
c.2676C>A (p.Cys892Ter)
n.2114C>A
c.3786C>A (p.Cys1262Ter)
c.3711C>A (p.Cys1237Ter)
c.2661C>A (p.Cys887Ter)
n.481C>A
c.2685C>A (p.Cys895Ter)
c.2736C>A (p.Cys912Ter)
c.2463C>A (p.Cys821Ter)
c.2787C>A (p.Cys929Ter)
c.2697C>A (p.Cys899Ter)
c.2688C>A (p.Cys896Ter)
 dbSNP
3g.123284684C>ACA354222050ADCY5c.2387G>T (p.Cys796Phe)
c.2675G>T (p.Cys892Phe)
n.2113G>T
c.3785G>T (p.Cys1262Phe)
c.3710G>T (p.Cys1237Phe)
c.2660G>T (p.Cys887Phe)
n.480G>T
c.2684G>T (p.Cys895Phe)
c.2735G>T (p.Cys912Phe)
c.2462G>T (p.Cys821Phe)
c.2786G>T (p.Cys929Phe)
c.2696G>T (p.Cys899Phe)
c.2687G>T (p.Cys896Phe)
3g.123284684C>GCA354222052ADCY5c.2387G>C (p.Cys796Ser)
c.2675G>C (p.Cys892Ser)
n.2113G>C
c.3785G>C (p.Cys1262Ser)
c.3710G>C (p.Cys1237Ser)
c.2660G>C (p.Cys887Ser)
n.480G>C
c.2684G>C (p.Cys895Ser)
c.2735G>C (p.Cys912Ser)
c.2462G>C (p.Cys821Ser)
c.2786G>C (p.Cys929Ser)
c.2696G>C (p.Cys899Ser)
c.2687G>C (p.Cys896Ser)
3g.123284684C>TCA354222053ADCY5c.2387G>A (p.Cys796Tyr)
c.2675G>A (p.Cys892Tyr)
n.2113G>A
c.3785G>A (p.Cys1262Tyr)
c.3710G>A (p.Cys1237Tyr)
c.2660G>A (p.Cys887Tyr)
n.480G>A
c.2684G>A (p.Cys895Tyr)
c.2735G>A (p.Cys912Tyr)
c.2462G>A (p.Cys821Tyr)
c.2786G>A (p.Cys929Tyr)
c.2696G>A (p.Cys899Tyr)
c.2687G>A (p.Cys896Tyr)
 ClinVar dbSNP
3g.123284685A>CCA354222055ADCY5c.2386T>G (p.Cys796Gly)
c.2674T>G (p.Cys892Gly)
n.2112T>G
c.3784T>G (p.Cys1262Gly)
c.3709T>G (p.Cys1237Gly)
c.2659T>G (p.Cys887Gly)
n.479T>G
c.2683T>G (p.Cys895Gly)
c.2734T>G (p.Cys912Gly)
c.2461T>G (p.Cys821Gly)
c.2785T>G (p.Cys929Gly)
c.2695T>G (p.Cys899Gly)
c.2686T>G (p.Cys896Gly)
3g.123284685A>GCA354222057ADCY5c.2386T>C (p.Cys796Arg)
c.2674T>C (p.Cys892Arg)
n.2112T>C
c.3784T>C (p.Cys1262Arg)
c.3709T>C (p.Cys1237Arg)
c.2659T>C (p.Cys887Arg)
n.479T>C
c.2683T>C (p.Cys895Arg)
c.2734T>C (p.Cys912Arg)
c.2461T>C (p.Cys821Arg)
c.2785T>C (p.Cys929Arg)
c.2695T>C (p.Cys899Arg)
c.2686T>C (p.Cys896Arg)
3g.123284685A>TCA354222059ADCY5c.2386T>A (p.Cys796Ser)
c.2674T>A (p.Cys892Ser)
n.2112T>A
c.3784T>A (p.Cys1262Ser)
c.3709T>A (p.Cys1237Ser)
c.2659T>A (p.Cys887Ser)
n.479T>A
c.2683T>A (p.Cys895Ser)
c.2734T>A (p.Cys912Ser)
c.2461T>A (p.Cys821Ser)
c.2785T>A (p.Cys929Ser)
c.2695T>A (p.Cys899Ser)
c.2686T>A (p.Cys896Ser)
3g.123284686C>ACA354222061ADCY5c.2385G>T (p.Glu795Asp)
c.2673G>T (p.Glu891Asp)
n.2111G>T
c.3783G>T (p.Glu1261Asp)
c.3708G>T (p.Glu1236Asp)
c.2658G>T (p.Glu886Asp)
n.478G>T
c.2682G>T (p.Glu894Asp)
c.2733G>T (p.Glu911Asp)
c.2460G>T (p.Glu820Asp)
c.2784G>T (p.Glu928Asp)
c.2694G>T (p.Glu898Asp)
c.2685G>T (p.Glu895Asp)
3g.123284686C=CA1398327476ADCY5c.2385G= (p.Glu795=)
c.2673G= (p.Glu891=)
n.2111G=
c.3783G= (p.Glu1261=)
c.3708G= (p.Glu1236=)
c.2658G= (p.Glu886=)
n.478G=
c.2682G= (p.Glu894=)
c.2733G= (p.Glu911=)
c.2460G= (p.Glu820=)
c.2784G= (p.Glu928=)
c.2694G= (p.Glu898=)
c.2685G= (p.Glu895=)
3g.123284686C>GCA354222063ADCY5c.2385G>C (p.Glu795Asp)
c.2673G>C (p.Glu891Asp)
n.2111G>C
c.3783G>C (p.Glu1261Asp)
c.3708G>C (p.Glu1236Asp)
c.2658G>C (p.Glu886Asp)
n.478G>C
c.2682G>C (p.Glu894Asp)
c.2733G>C (p.Glu911Asp)
c.2460G>C (p.Glu820Asp)
c.2784G>C (p.Glu928Asp)
c.2694G>C (p.Glu898Asp)
c.2685G>C (p.Glu895Asp)
3g.123284686C>TCA435297693ADCY5c.2385G>A (p.Glu795=)
c.2673G>A (p.Glu891=)
n.2111G>A
c.3783G>A (p.Glu1261=)
c.3708G>A (p.Glu1236=)
c.2658G>A (p.Glu886=)
n.478G>A
c.2682G>A (p.Glu894=)
c.2733G>A (p.Glu911=)
c.2460G>A (p.Glu820=)
c.2784G>A (p.Glu928=)
c.2694G>A (p.Glu898=)
c.2685G>A (p.Glu895=)
 dbSNP
3g.123284687T>ACA354222065ADCY5c.2384A>T (p.Glu795Val)
c.2672A>T (p.Glu891Val)
n.2110A>T
c.3782A>T (p.Glu1261Val)
c.3707A>T (p.Glu1236Val)
c.2657A>T (p.Glu886Val)
n.477A>T
c.2681A>T (p.Glu894Val)
c.2732A>T (p.Glu911Val)
c.2459A>T (p.Glu820Val)
c.2783A>T (p.Glu928Val)
c.2693A>T (p.Glu898Val)
c.2684A>T (p.Glu895Val)
3g.123284687T>CCA354222067ADCY5c.2384A>G (p.Glu795Gly)
c.2672A>G (p.Glu891Gly)
n.2110A>G
c.3782A>G (p.Glu1261Gly)
c.3707A>G (p.Glu1236Gly)
c.2657A>G (p.Glu886Gly)
n.477A>G
c.2681A>G (p.Glu894Gly)
c.2732A>G (p.Glu911Gly)
c.2459A>G (p.Glu820Gly)
c.2783A>G (p.Glu928Gly)
c.2693A>G (p.Glu898Gly)
c.2684A>G (p.Glu895Gly)
3g.123284687T>GCA354222069ADCY5c.2384A>C (p.Glu795Ala)
c.2672A>C (p.Glu891Ala)
n.2110A>C
c.3782A>C (p.Glu1261Ala)
c.3707A>C (p.Glu1236Ala)
c.2657A>C (p.Glu886Ala)
n.477A>C
c.2681A>C (p.Glu894Ala)
c.2732A>C (p.Glu911Ala)
c.2459A>C (p.Glu820Ala)
c.2783A>C (p.Glu928Ala)
c.2693A>C (p.Glu898Ala)
c.2684A>C (p.Glu895Ala)
3g.123284688C>ACA354222072ADCY5c.2383G>T (p.Glu795Ter)
c.2671G>T (p.Glu891Ter)
n.2109G>T
c.3781G>T (p.Glu1261Ter)
c.3706G>T (p.Glu1236Ter)
c.2656G>T (p.Glu886Ter)
n.476G>T
c.2680G>T (p.Glu894Ter)
c.2731G>T (p.Glu911Ter)
c.2458G>T (p.Glu820Ter)
c.2782G>T (p.Glu928Ter)
c.2692G>T (p.Glu898Ter)
c.2683G>T (p.Glu895Ter)
 dbSNP
3g.123284688C=CA1398327477ADCY5c.2383G= (p.Glu795=)
c.2671G= (p.Glu891=)
n.2109G=
c.3781G= (p.Glu1261=)
c.3706G= (p.Glu1236=)
c.2656G= (p.Glu886=)
n.476G=
c.2680G= (p.Glu894=)
c.2731G= (p.Glu911=)
c.2458G= (p.Glu820=)
c.2782G= (p.Glu928=)
c.2692G= (p.Glu898=)
c.2683G= (p.Glu895=)
3g.123284688C>GCA354222076ADCY5c.2383G>C (p.Glu795Gln)
c.2671G>C (p.Glu891Gln)
n.2109G>C
c.3781G>C (p.Glu1261Gln)
c.3706G>C (p.Glu1236Gln)
c.2656G>C (p.Glu886Gln)
n.476G>C
c.2680G>C (p.Glu894Gln)
c.2731G>C (p.Glu911Gln)
c.2458G>C (p.Glu820Gln)
c.2782G>C (p.Glu928Gln)
c.2692G>C (p.Glu898Gln)
c.2683G>C (p.Glu895Gln)
3g.123284688C>TCA354222073ADCY5c.2383G>A (p.Glu795Lys)
c.2671G>A (p.Glu891Lys)
n.2109G>A
c.3781G>A (p.Glu1261Lys)
c.3706G>A (p.Glu1236Lys)
c.2656G>A (p.Glu886Lys)
n.476G>A
c.2680G>A (p.Glu894Lys)
c.2731G>A (p.Glu911Lys)
c.2458G>A (p.Glu820Lys)
c.2782G>A (p.Glu928Lys)
c.2692G>A (p.Glu898Lys)
c.2683G>A (p.Glu895Lys)
3g.123284689C>ACA435297694ADCY5c.2382G>T (p.Leu794=)
c.2670G>T (p.Leu890=)
n.2108G>T
c.3780G>T (p.Leu1260=)
c.3705G>T (p.Leu1235=)
c.2655G>T (p.Leu885=)
n.475G>T
c.2679G>T (p.Leu893=)
c.2730G>T (p.Leu910=)
c.2457G>T (p.Leu819=)
c.2781G>T (p.Leu927=)
c.2691G>T (p.Leu897=)
c.2682G>T (p.Leu894=)
3g.123284689C=CA1398327478ADCY5c.2382G= (p.Leu794=)
c.2670G= (p.Leu890=)
n.2108G=
c.3780G= (p.Leu1260=)
c.3705G= (p.Leu1235=)
c.2655G= (p.Leu885=)
n.475G=
c.2679G= (p.Leu893=)
c.2730G= (p.Leu910=)
c.2457G= (p.Leu819=)
c.2781G= (p.Leu927=)
c.2691G= (p.Leu897=)
c.2682G= (p.Leu894=)
3g.123284689C>GCA435297695ADCY5c.2382G>C (p.Leu794=)
c.2670G>C (p.Leu890=)
n.2108G>C
c.3780G>C (p.Leu1260=)
c.3705G>C (p.Leu1235=)
c.2655G>C (p.Leu885=)
n.475G>C
c.2679G>C (p.Leu893=)
c.2730G>C (p.Leu910=)
c.2457G>C (p.Leu819=)
c.2781G>C (p.Leu927=)
c.2691G>C (p.Leu897=)
c.2682G>C (p.Leu894=)
3g.123284689C>TCA2576696ADCY5c.2382G>A (p.Leu794=)
c.2670G>A (p.Leu890=)
n.2108G>A
c.3780G>A (p.Leu1260=)
c.3705G>A (p.Leu1235=)
c.2655G>A (p.Leu885=)
n.475G>A
c.2679G>A (p.Leu893=)
c.2730G>A (p.Leu910=)
c.2457G>A (p.Leu819=)
c.2781G>A (p.Leu927=)
c.2691G>A (p.Leu897=)
c.2682G>A (p.Leu894=)
 dbSNP ExAC gnomAD v4
3g.123284690A>CCA354222079ADCY5c.2381T>G (p.Leu794Arg)
c.2669T>G (p.Leu890Arg)
n.2107T>G
c.3779T>G (p.Leu1260Arg)
c.3704T>G (p.Leu1235Arg)
c.2654T>G (p.Leu885Arg)
n.474T>G
c.2678T>G (p.Leu893Arg)
c.2729T>G (p.Leu910Arg)
c.2456T>G (p.Leu819Arg)
c.2780T>G (p.Leu927Arg)
c.2690T>G (p.Leu897Arg)
c.2681T>G (p.Leu894Arg)
3g.123284690A>GCA354222081ADCY5c.2381T>C (p.Leu794Pro)
c.2669T>C (p.Leu890Pro)
n.2107T>C
c.3779T>C (p.Leu1260Pro)
c.3704T>C (p.Leu1235Pro)
c.2654T>C (p.Leu885Pro)
n.474T>C
c.2678T>C (p.Leu893Pro)
c.2729T>C (p.Leu910Pro)
c.2456T>C (p.Leu819Pro)
c.2780T>C (p.Leu927Pro)
c.2690T>C (p.Leu897Pro)
c.2681T>C (p.Leu894Pro)
3g.123284690A>TCA354222083ADCY5c.2381T>A (p.Leu794Gln)
c.2669T>A (p.Leu890Gln)
n.2107T>A
c.3779T>A (p.Leu1260Gln)
c.3704T>A (p.Leu1235Gln)
c.2654T>A (p.Leu885Gln)
n.474T>A
c.2678T>A (p.Leu893Gln)
c.2729T>A (p.Leu910Gln)
c.2456T>A (p.Leu819Gln)
c.2780T>A (p.Leu927Gln)
c.2690T>A (p.Leu897Gln)
c.2681T>A (p.Leu894Gln)
3g.123284691G>ACA435297696ADCY5c.2380C>T (p.Leu794=)
c.2668C>T (p.Leu890=)
n.2106C>T
c.3778C>T (p.Leu1260=)
c.3703C>T (p.Leu1235=)
c.2653C>T (p.Leu885=)
n.473C>T
c.2677C>T (p.Leu893=)
c.2728C>T (p.Leu910=)
c.2455C>T (p.Leu819=)
c.2779C>T (p.Leu927=)
c.2689C>T (p.Leu897=)
c.2680C>T (p.Leu894=)
3g.123284691G>CCA354222084ADCY5c.2380C>G (p.Leu794Val)
c.2668C>G (p.Leu890Val)
n.2106C>G
c.3778C>G (p.Leu1260Val)
c.3703C>G (p.Leu1235Val)
c.2653C>G (p.Leu885Val)
n.473C>G
c.2677C>G (p.Leu893Val)
c.2728C>G (p.Leu910Val)
c.2455C>G (p.Leu819Val)
c.2779C>G (p.Leu927Val)
c.2689C>G (p.Leu897Val)
c.2680C>G (p.Leu894Val)
3g.123284691G>TCA354222085ADCY5c.2380C>A (p.Leu794Met)
c.2668C>A (p.Leu890Met)
n.2106C>A
c.3778C>A (p.Leu1260Met)
c.3703C>A (p.Leu1235Met)
c.2653C>A (p.Leu885Met)
n.473C>A
c.2677C>A (p.Leu893Met)
c.2728C>A (p.Leu910Met)
c.2455C>A (p.Leu819Met)
c.2779C>A (p.Leu927Met)
c.2689C>A (p.Leu897Met)
c.2680C>A (p.Leu894Met)
3g.123284692C>ACA354222086ADCY5c.2379G>T (p.Gln793His)
c.2667G>T (p.Gln889His)
n.2105G>T
c.3777G>T (p.Gln1259His)
c.3702G>T (p.Gln1234His)
c.2652G>T (p.Gln884His)
n.472G>T
c.2676G>T (p.Gln892His)
c.2727G>T (p.Gln909His)
c.2454G>T (p.Gln818His)
c.2778G>T (p.Gln926His)
c.2688G>T (p.Gln896His)
c.2679G>T (p.Gln893His)
3g.123284692C>GCA354222087ADCY5c.2379G>C (p.Gln793His)
c.2667G>C (p.Gln889His)
n.2105G>C
c.3777G>C (p.Gln1259His)
c.3702G>C (p.Gln1234His)
c.2652G>C (p.Gln884His)
n.472G>C
c.2676G>C (p.Gln892His)
c.2727G>C (p.Gln909His)
c.2454G>C (p.Gln818His)
c.2778G>C (p.Gln926His)
c.2688G>C (p.Gln896His)
c.2679G>C (p.Gln893His)
3g.123284692C>TCA435297697ADCY5c.2379G>A (p.Gln793=)
c.2667G>A (p.Gln889=)
n.2105G>A
c.3777G>A (p.Gln1259=)
c.3702G>A (p.Gln1234=)
c.2652G>A (p.Gln884=)
n.472G>A
c.2676G>A (p.Gln892=)
c.2727G>A (p.Gln909=)
c.2454G>A (p.Gln818=)
c.2778G>A (p.Gln926=)
c.2688G>A (p.Gln896=)
c.2679G>A (p.Gln893=)
3g.123284693T>ACA82899776ADCY5c.2378A>T (p.Gln793Leu)
c.2666A>T (p.Gln889Leu)
n.2104A>T
c.3776A>T (p.Gln1259Leu)
c.3701A>T (p.Gln1234Leu)
c.2651A>T (p.Gln884Leu)
n.471A>T
c.2675A>T (p.Gln892Leu)
c.2726A>T (p.Gln909Leu)
c.2453A>T (p.Gln818Leu)
c.2777A>T (p.Gln926Leu)
c.2687A>T (p.Gln896Leu)
c.2678A>T (p.Gln893Leu)
 dbSNP gnomAD v4
3g.123284693T>CCA354222088ADCY5c.2378A>G (p.Gln793Arg)
c.2666A>G (p.Gln889Arg)
n.2104A>G
c.3776A>G (p.Gln1259Arg)
c.3701A>G (p.Gln1234Arg)
c.2651A>G (p.Gln884Arg)
n.471A>G
c.2675A>G (p.Gln892Arg)
c.2726A>G (p.Gln909Arg)
c.2453A>G (p.Gln818Arg)
c.2777A>G (p.Gln926Arg)
c.2687A>G (p.Gln896Arg)
c.2678A>G (p.Gln893Arg)
3g.123284693T>GCA354222089ADCY5c.2378A>C (p.Gln793Pro)
c.2666A>C (p.Gln889Pro)
n.2104A>C
c.3776A>C (p.Gln1259Pro)
c.3701A>C (p.Gln1234Pro)
c.2651A>C (p.Gln884Pro)
n.471A>C
c.2675A>C (p.Gln892Pro)
c.2726A>C (p.Gln909Pro)
c.2453A>C (p.Gln818Pro)
c.2777A>C (p.Gln926Pro)
c.2687A>C (p.Gln896Pro)
c.2678A>C (p.Gln893Pro)
3g.123284693T=CA1398327479ADCY5c.2378A= (p.Gln793=)
c.2666A= (p.Gln889=)
n.2104A=
c.3776A= (p.Gln1259=)
c.3701A= (p.Gln1234=)
c.2651A= (p.Gln884=)
n.471A=
c.2675A= (p.Gln892=)
c.2726A= (p.Gln909=)
c.2453A= (p.Gln818=)
c.2777A= (p.Gln926=)
c.2687A= (p.Gln896=)
c.2678A= (p.Gln893=)
3g.123284694G>ACA354222092ADCY5c.2377C>T (p.Gln793Ter)
c.2665C>T (p.Gln889Ter)
n.2103C>T
c.3775C>T (p.Gln1259Ter)
c.3700C>T (p.Gln1234Ter)
c.2650C>T (p.Gln884Ter)
n.470C>T
c.2674C>T (p.Gln892Ter)
c.2725C>T (p.Gln909Ter)
c.2452C>T (p.Gln818Ter)
c.2776C>T (p.Gln926Ter)
c.2686C>T (p.Gln896Ter)
c.2677C>T (p.Gln893Ter)
 dbSNP
3g.123284694G>CCA354222091ADCY5c.2377C>G (p.Gln793Glu)
c.2665C>G (p.Gln889Glu)
n.2103C>G
c.3775C>G (p.Gln1259Glu)
c.3700C>G (p.Gln1234Glu)
c.2650C>G (p.Gln884Glu)
n.470C>G
c.2674C>G (p.Gln892Glu)
c.2725C>G (p.Gln909Glu)
c.2452C>G (p.Gln818Glu)
c.2776C>G (p.Gln926Glu)
c.2686C>G (p.Gln896Glu)
c.2677C>G (p.Gln893Glu)
3g.123284694G=CA1398327480ADCY5c.2377C= (p.Gln793=)
c.2665C= (p.Gln889=)
n.2103C=
c.3775C= (p.Gln1259=)
c.3700C= (p.Gln1234=)
c.2650C= (p.Gln884=)
n.470C=
c.2674C= (p.Gln892=)
c.2725C= (p.Gln909=)
c.2452C= (p.Gln818=)
c.2776C= (p.Gln926=)
c.2686C= (p.Gln896=)
c.2677C= (p.Gln893=)
3g.123284694G>TCA354222090ADCY5c.2377C>A (p.Gln793Lys)
c.2665C>A (p.Gln889Lys)
n.2103C>A
c.3775C>A (p.Gln1259Lys)
c.3700C>A (p.Gln1234Lys)
c.2650C>A (p.Gln884Lys)
n.470C>A
c.2674C>A (p.Gln892Lys)
c.2725C>A (p.Gln909Lys)
c.2452C>A (p.Gln818Lys)
c.2776C>A (p.Gln926Lys)
c.2686C>A (p.Gln896Lys)
c.2677C>A (p.Gln893Lys)
 gnomAD v4
3g.123284695G>ACA435297698ADCY5c.2376C>T (p.Tyr792=)
c.2664C>T (p.Tyr888=)
n.2102C>T
c.3774C>T (p.Tyr1258=)
c.3699C>T (p.Tyr1233=)
c.2649C>T (p.Tyr883=)
n.469C>T
c.2673C>T (p.Tyr891=)
c.2724C>T (p.Tyr908=)
c.2451C>T (p.Tyr817=)
c.2775C>T (p.Tyr925=)
c.2685C>T (p.Tyr895=)
c.2676C>T (p.Tyr892=)
3g.123284695G>CCA354222094ADCY5c.2376C>G (p.Tyr792Ter)
c.2664C>G (p.Tyr888Ter)
n.2102C>G
c.3774C>G (p.Tyr1258Ter)
c.3699C>G (p.Tyr1233Ter)
c.2649C>G (p.Tyr883Ter)
n.469C>G
c.2673C>G (p.Tyr891Ter)
c.2724C>G (p.Tyr908Ter)
c.2451C>G (p.Tyr817Ter)
c.2775C>G (p.Tyr925Ter)
c.2685C>G (p.Tyr895Ter)
c.2676C>G (p.Tyr892Ter)
3g.123284695G>TCA354222093ADCY5c.2376C>A (p.Tyr792Ter)
c.2664C>A (p.Tyr888Ter)
n.2102C>A
c.3774C>A (p.Tyr1258Ter)
c.3699C>A (p.Tyr1233Ter)
c.2649C>A (p.Tyr883Ter)
n.469C>A
c.2673C>A (p.Tyr891Ter)
c.2724C>A (p.Tyr908Ter)
c.2451C>A (p.Tyr817Ter)
c.2775C>A (p.Tyr925Ter)
c.2685C>A (p.Tyr895Ter)
c.2676C>A (p.Tyr892Ter)
3g.123284696T>ACA354222095ADCY5c.2375A>T (p.Tyr792Phe)
c.2663A>T (p.Tyr888Phe)
n.2101A>T
c.3773A>T (p.Tyr1258Phe)
c.3698A>T (p.Tyr1233Phe)
c.2648A>T (p.Tyr883Phe)
n.468A>T
c.2672A>T (p.Tyr891Phe)
c.2723A>T (p.Tyr908Phe)
c.2450A>T (p.Tyr817Phe)
c.2774A>T (p.Tyr925Phe)
c.2684A>T (p.Tyr895Phe)
c.2675A>T (p.Tyr892Phe)
3g.123284696T>CCA354222096ADCY5c.2375A>G (p.Tyr792Cys)
c.2663A>G (p.Tyr888Cys)
n.2101A>G
c.3773A>G (p.Tyr1258Cys)
c.3698A>G (p.Tyr1233Cys)
c.2648A>G (p.Tyr883Cys)
n.468A>G
c.2672A>G (p.Tyr891Cys)
c.2723A>G (p.Tyr908Cys)
c.2450A>G (p.Tyr817Cys)
c.2774A>G (p.Tyr925Cys)
c.2684A>G (p.Tyr895Cys)
c.2675A>G (p.Tyr892Cys)
3g.123284696T>GCA354222097ADCY5c.2375A>C (p.Tyr792Ser)
c.2663A>C (p.Tyr888Ser)
n.2101A>C
c.3773A>C (p.Tyr1258Ser)
c.3698A>C (p.Tyr1233Ser)
c.2648A>C (p.Tyr883Ser)
n.468A>C
c.2672A>C (p.Tyr891Ser)
c.2723A>C (p.Tyr908Ser)
c.2450A>C (p.Tyr817Ser)
c.2774A>C (p.Tyr925Ser)
c.2684A>C (p.Tyr895Ser)
c.2675A>C (p.Tyr892Ser)
3g.123284697A>CCA354222098ADCY5c.2374T>G (p.Tyr792Asp)
c.2662T>G (p.Tyr888Asp)
n.2100T>G
c.3772T>G (p.Tyr1258Asp)
c.3697T>G (p.Tyr1233Asp)
c.2647T>G (p.Tyr883Asp)
n.467T>G
c.2671T>G (p.Tyr891Asp)
c.2722T>G (p.Tyr908Asp)
c.2449T>G (p.Tyr817Asp)
c.2773T>G (p.Tyr925Asp)
c.2683T>G (p.Tyr895Asp)
c.2674T>G (p.Tyr892Asp)
3g.123284697A>GCA354222099ADCY5c.2374T>C (p.Tyr792His)
c.2662T>C (p.Tyr888His)
n.2100T>C
c.3772T>C (p.Tyr1258His)
c.3697T>C (p.Tyr1233His)
c.2647T>C (p.Tyr883His)
n.467T>C
c.2671T>C (p.Tyr891His)
c.2722T>C (p.Tyr908His)
c.2449T>C (p.Tyr817His)
c.2773T>C (p.Tyr925His)
c.2683T>C (p.Tyr895His)
c.2674T>C (p.Tyr892His)
3g.123284697A>TCA354222100ADCY5c.2374T>A (p.Tyr792Asn)
c.2662T>A (p.Tyr888Asn)
n.2100T>A
c.3772T>A (p.Tyr1258Asn)
c.3697T>A (p.Tyr1233Asn)
c.2647T>A (p.Tyr883Asn)
n.467T>A
c.2671T>A (p.Tyr891Asn)
c.2722T>A (p.Tyr908Asn)
c.2449T>A (p.Tyr817Asn)
c.2773T>A (p.Tyr925Asn)
c.2683T>A (p.Tyr895Asn)
c.2674T>A (p.Tyr892Asn)
3g.123284698C>ACA2576698ADCY5c.2373G>T (p.Thr791=)
c.2661G>T (p.Thr887=)
n.2099G>T
c.3771G>T (p.Thr1257=)
c.3696G>T (p.Thr1232=)
c.2646G>T (p.Thr882=)
n.466G>T
c.2670G>T (p.Thr890=)
c.2721G>T (p.Thr907=)
c.2448G>T (p.Thr816=)
c.2772G>T (p.Thr924=)
c.2682G>T (p.Thr894=)
c.2673G>T (p.Thr891=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.123284698C=CA1398327481ADCY5c.2373G= (p.Thr791=)
c.2661G= (p.Thr887=)
n.2099G=
c.3771G= (p.Thr1257=)
c.3696G= (p.Thr1232=)
c.2646G= (p.Thr882=)
n.466G=
c.2670G= (p.Thr890=)
c.2721G= (p.Thr907=)
c.2448G= (p.Thr816=)
c.2772G= (p.Thr924=)
c.2682G= (p.Thr894=)
c.2673G= (p.Thr891=)
3g.123284698C>GCA435297699ADCY5c.2373G>C (p.Thr791=)
c.2661G>C (p.Thr887=)
n.2099G>C
c.3771G>C (p.Thr1257=)
c.3696G>C (p.Thr1232=)
c.2646G>C (p.Thr882=)
n.466G>C
c.2670G>C (p.Thr890=)
c.2721G>C (p.Thr907=)
c.2448G>C (p.Thr816=)
c.2772G>C (p.Thr924=)
c.2682G>C (p.Thr894=)
c.2673G>C (p.Thr891=)
3g.123284698C>TCA2576697ADCY5c.2373G>A (p.Thr791=)
c.2661G>A (p.Thr887=)
n.2099G>A
c.3771G>A (p.Thr1257=)
c.3696G>A (p.Thr1232=)
c.2646G>A (p.Thr882=)
n.466G>A
c.2670G>A (p.Thr890=)
c.2721G>A (p.Thr907=)
c.2448G>A (p.Thr816=)
c.2772G>A (p.Thr924=)
c.2682G>A (p.Thr894=)
c.2673G>A (p.Thr891=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.123284699G>ACA2576699ADCY5c.2372C>T (p.Thr791Met)
c.2660C>T (p.Thr887Met)
n.2098C>T
c.3770C>T (p.Thr1257Met)
c.3695C>T (p.Thr1232Met)
c.2645C>T (p.Thr882Met)
n.465C>T
c.2669C>T (p.Thr890Met)
c.2720C>T (p.Thr907Met)
c.2447C>T (p.Thr816Met)
c.2771C>T (p.Thr924Met)
c.2681C>T (p.Thr894Met)
c.2672C>T (p.Thr891Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.123284699G>CCA354222101ADCY5c.2372C>G (p.Thr791Arg)
c.2660C>G (p.Thr887Arg)
n.2098C>G
c.3770C>G (p.Thr1257Arg)
c.3695C>G (p.Thr1232Arg)
c.2645C>G (p.Thr882Arg)
n.465C>G
c.2669C>G (p.Thr890Arg)
c.2720C>G (p.Thr907Arg)
c.2447C>G (p.Thr816Arg)
c.2771C>G (p.Thr924Arg)
c.2681C>G (p.Thr894Arg)
c.2672C>G (p.Thr891Arg)
3g.123284699G=CA1398327482ADCY5c.2372C= (p.Thr791=)
c.2660C= (p.Thr887=)
n.2098C=
c.3770C= (p.Thr1257=)
c.3695C= (p.Thr1232=)
c.2645C= (p.Thr882=)
n.465C=
c.2669C= (p.Thr890=)
c.2720C= (p.Thr907=)
c.2447C= (p.Thr816=)
c.2771C= (p.Thr924=)
c.2681C= (p.Thr894=)
c.2672C= (p.Thr891=)
3g.123284699G>TCA354222102ADCY5c.2372C>A (p.Thr791Lys)
c.2660C>A (p.Thr887Lys)
n.2098C>A
c.3770C>A (p.Thr1257Lys)
c.3695C>A (p.Thr1232Lys)
c.2645C>A (p.Thr882Lys)
n.465C>A
c.2669C>A (p.Thr890Lys)
c.2720C>A (p.Thr907Lys)
c.2447C>A (p.Thr816Lys)
c.2771C>A (p.Thr924Lys)
c.2681C>A (p.Thr894Lys)
c.2672C>A (p.Thr891Lys)
 dbSNP gnomAD v4
3g.123284700T>ACA354222104ADCY5c.2371A>T (p.Thr791Ser)
c.2659A>T (p.Thr887Ser)
n.2097A>T
c.3769A>T (p.Thr1257Ser)
c.3694A>T (p.Thr1232Ser)
c.2644A>T (p.Thr882Ser)
n.464A>T
c.2668A>T (p.Thr890Ser)
c.2719A>T (p.Thr907Ser)
c.2446A>T (p.Thr816Ser)
c.2770A>T (p.Thr924Ser)
c.2680A>T (p.Thr894Ser)
c.2671A>T (p.Thr891Ser)
3g.123284700T>CCA354222105ADCY5c.2371A>G (p.Thr791Ala)
c.2659A>G (p.Thr887Ala)
n.2097A>G
c.3769A>G (p.Thr1257Ala)
c.3694A>G (p.Thr1232Ala)
c.2644A>G (p.Thr882Ala)
n.464A>G
c.2668A>G (p.Thr890Ala)
c.2719A>G (p.Thr907Ala)
c.2446A>G (p.Thr816Ala)
c.2770A>G (p.Thr924Ala)
c.2680A>G (p.Thr894Ala)
c.2671A>G (p.Thr891Ala)
3g.123284700T>GCA354222103ADCY5c.2371A>C (p.Thr791Pro)
c.2659A>C (p.Thr887Pro)
n.2097A>C
c.3769A>C (p.Thr1257Pro)
c.3694A>C (p.Thr1232Pro)
c.2644A>C (p.Thr882Pro)
n.464A>C
c.2668A>C (p.Thr890Pro)
c.2719A>C (p.Thr907Pro)
c.2446A>C (p.Thr816Pro)
c.2770A>C (p.Thr924Pro)
c.2680A>C (p.Thr894Pro)
c.2671A>C (p.Thr891Pro)
3g.123284701G>ACA435297700ADCY5c.2370C>T (p.Asn790=)
c.2658C>T (p.Asn886=)
n.2096C>T
c.3768C>T (p.Asn1256=)
c.3693C>T (p.Asn1231=)
c.2643C>T (p.Asn881=)
n.463C>T
c.2667C>T (p.Asn889=)
c.2718C>T (p.Asn906=)
c.2445C>T (p.Asn815=)
c.2769C>T (p.Asn923=)
c.2679C>T (p.Asn893=)
c.2670C>T (p.Asn890=)
3g.123284701G>CCA354222106ADCY5c.2370C>G (p.Asn790Lys)
c.2658C>G (p.Asn886Lys)
n.2096C>G
c.3768C>G (p.Asn1256Lys)
c.3693C>G (p.Asn1231Lys)
c.2643C>G (p.Asn881Lys)
n.463C>G
c.2667C>G (p.Asn889Lys)
c.2718C>G (p.Asn906Lys)
c.2445C>G (p.Asn815Lys)
c.2769C>G (p.Asn923Lys)
c.2679C>G (p.Asn893Lys)
c.2670C>G (p.Asn890Lys)
3g.123284701G>TCA354222107ADCY5c.2370C>A (p.Asn790Lys)
c.2658C>A (p.Asn886Lys)
n.2096C>A
c.3768C>A (p.Asn1256Lys)
c.3693C>A (p.Asn1231Lys)
c.2643C>A (p.Asn881Lys)
n.463C>A
c.2667C>A (p.Asn889Lys)
c.2718C>A (p.Asn906Lys)
c.2445C>A (p.Asn815Lys)
c.2769C>A (p.Asn923Lys)
c.2679C>A (p.Asn893Lys)
c.2670C>A (p.Asn890Lys)
3g.123284702T>ACA354222108ADCY5c.2369A>T (p.Asn790Ile)
c.2657A>T (p.Asn886Ile)
n.2095A>T
c.3767A>T (p.Asn1256Ile)
c.3692A>T (p.Asn1231Ile)
c.2642A>T (p.Asn881Ile)
n.462A>T
c.2666A>T (p.Asn889Ile)
c.2717A>T (p.Asn906Ile)
c.2444A>T (p.Asn815Ile)
c.2768A>T (p.Asn923Ile)
c.2678A>T (p.Asn893Ile)
c.2669A>T (p.Asn890Ile)
3g.123284702T>CCA354222109ADCY5c.2369A>G (p.Asn790Ser)
c.2657A>G (p.Asn886Ser)
n.2095A>G
c.3767A>G (p.Asn1256Ser)
c.3692A>G (p.Asn1231Ser)
c.2642A>G (p.Asn881Ser)
n.462A>G
c.2666A>G (p.Asn889Ser)
c.2717A>G (p.Asn906Ser)
c.2444A>G (p.Asn815Ser)
c.2768A>G (p.Asn923Ser)
c.2678A>G (p.Asn893Ser)
c.2669A>G (p.Asn890Ser)
3g.123284702T>GCA354222110ADCY5c.2369A>C (p.Asn790Thr)
c.2657A>C (p.Asn886Thr)
n.2095A>C
c.3767A>C (p.Asn1256Thr)
c.3692A>C (p.Asn1231Thr)
c.2642A>C (p.Asn881Thr)
n.462A>C
c.2666A>C (p.Asn889Thr)
c.2717A>C (p.Asn906Thr)
c.2444A>C (p.Asn815Thr)
c.2768A>C (p.Asn923Thr)
c.2678A>C (p.Asn893Thr)
c.2669A>C (p.Asn890Thr)
3g.123284703T>ACA354222113ADCY5c.2368A>T (p.Asn790Tyr)
c.2656A>T (p.Asn886Tyr)
n.2094A>T
c.3766A>T (p.Asn1256Tyr)
c.3691A>T (p.Asn1231Tyr)
c.2641A>T (p.Asn881Tyr)
n.461A>T
c.2665A>T (p.Asn889Tyr)
c.2716A>T (p.Asn906Tyr)
c.2443A>T (p.Asn815Tyr)
c.2767A>T (p.Asn923Tyr)
c.2677A>T (p.Asn893Tyr)
c.2668A>T (p.Asn890Tyr)
3g.123284703T>CCA354222111ADCY5c.2368A>G (p.Asn790Asp)
c.2656A>G (p.Asn886Asp)
n.2094A>G
c.3766A>G (p.Asn1256Asp)
c.3691A>G (p.Asn1231Asp)
c.2641A>G (p.Asn881Asp)
n.461A>G
c.2665A>G (p.Asn889Asp)
c.2716A>G (p.Asn906Asp)
c.2443A>G (p.Asn815Asp)
c.2767A>G (p.Asn923Asp)
c.2677A>G (p.Asn893Asp)
c.2668A>G (p.Asn890Asp)
 gnomAD v4
3g.123284703T>GCA354222112ADCY5c.2368A>C (p.Asn790His)
c.2656A>C (p.Asn886His)
n.2094A>C
c.3766A>C (p.Asn1256His)
c.3691A>C (p.Asn1231His)
c.2641A>C (p.Asn881His)
n.461A>C
c.2665A>C (p.Asn889His)
c.2716A>C (p.Asn906His)
c.2443A>C (p.Asn815His)
c.2767A>C (p.Asn923His)
c.2677A>C (p.Asn893His)
c.2668A>C (p.Asn890His)
3g.123284704G>ACA435297701ADCY5c.2367C>T (p.Ala789=)
c.2655C>T (p.Ala885=)
n.2093C>T
c.3765C>T (p.Ala1255=)
c.3690C>T (p.Ala1230=)
c.2640C>T (p.Ala880=)
n.460C>T
c.2664C>T (p.Ala888=)
c.2715C>T (p.Ala905=)
c.2442C>T (p.Ala814=)
c.2766C>T (p.Ala922=)
c.2676C>T (p.Ala892=)
c.2667C>T (p.Ala889=)
 dbSNP gnomAD v2 gnomAD v4
3g.123284704G>CCA435297702ADCY5c.2367C>G (p.Ala789=)
c.2655C>G (p.Ala885=)
n.2093C>G
c.3765C>G (p.Ala1255=)
c.3690C>G (p.Ala1230=)
c.2640C>G (p.Ala880=)
n.460C>G
c.2664C>G (p.Ala888=)
c.2715C>G (p.Ala905=)
c.2442C>G (p.Ala814=)
c.2766C>G (p.Ala922=)
c.2676C>G (p.Ala892=)
c.2667C>G (p.Ala889=)
3g.123284704G=CA1398327483ADCY5c.2367C= (p.Ala789=)
c.2655C= (p.Ala885=)
n.2093C=
c.3765C= (p.Ala1255=)
c.3690C= (p.Ala1230=)
c.2640C= (p.Ala880=)
n.460C=
c.2664C= (p.Ala888=)
c.2715C= (p.Ala905=)
c.2442C= (p.Ala814=)
c.2766C= (p.Ala922=)
c.2676C= (p.Ala892=)
c.2667C= (p.Ala889=)
3g.123284704G>TCA435297703ADCY5c.2367C>A (p.Ala789=)
c.2655C>A (p.Ala885=)
n.2093C>A
c.3765C>A (p.Ala1255=)
c.3690C>A (p.Ala1230=)
c.2640C>A (p.Ala880=)
n.460C>A
c.2664C>A (p.Ala888=)
c.2715C>A (p.Ala905=)
c.2442C>A (p.Ala814=)
c.2766C>A (p.Ala922=)
c.2676C>A (p.Ala892=)
c.2667C>A (p.Ala889=)
3g.123284705G>ACA354222114ADCY5c.2366C>T (p.Ala789Val)
c.2654C>T (p.Ala885Val)
n.2092C>T
c.3764C>T (p.Ala1255Val)
c.3689C>T (p.Ala1230Val)
c.2639C>T (p.Ala880Val)
n.459C>T
c.2663C>T (p.Ala888Val)
c.2714C>T (p.Ala905Val)
c.2441C>T (p.Ala814Val)
c.2765C>T (p.Ala922Val)
c.2675C>T (p.Ala892Val)
c.2666C>T (p.Ala889Val)
3g.123284705G>CCA354222115ADCY5c.2366C>G (p.Ala789Gly)
c.2654C>G (p.Ala885Gly)
n.2092C>G
c.3764C>G (p.Ala1255Gly)
c.3689C>G (p.Ala1230Gly)
c.2639C>G (p.Ala880Gly)
n.459C>G
c.2663C>G (p.Ala888Gly)
c.2714C>G (p.Ala905Gly)
c.2441C>G (p.Ala814Gly)
c.2765C>G (p.Ala922Gly)
c.2675C>G (p.Ala892Gly)
c.2666C>G (p.Ala889Gly)
3g.123284705G>TCA354222116ADCY5c.2366C>A (p.Ala789Asp)
c.2654C>A (p.Ala885Asp)
n.2092C>A
c.3764C>A (p.Ala1255Asp)
c.3689C>A (p.Ala1230Asp)
c.2639C>A (p.Ala880Asp)
n.459C>A
c.2663C>A (p.Ala888Asp)
c.2714C>A (p.Ala905Asp)
c.2441C>A (p.Ala814Asp)
c.2765C>A (p.Ala922Asp)
c.2675C>A (p.Ala892Asp)
c.2666C>A (p.Ala889Asp)
3g.123284706C>ACA354222117ADCY5c.2365G>T (p.Ala789Ser)
c.2653G>T (p.Ala885Ser)
n.2091G>T
c.3763G>T (p.Ala1255Ser)
c.3688G>T (p.Ala1230Ser)
c.2638G>T (p.Ala880Ser)
n.458G>T
c.2662G>T (p.Ala888Ser)
c.2713G>T (p.Ala905Ser)
c.2440G>T (p.Ala814Ser)
c.2764G>T (p.Ala922Ser)
c.2674G>T (p.Ala892Ser)
c.2665G>T (p.Ala889Ser)
3g.123284706C>GCA354222118ADCY5c.2365G>C (p.Ala789Pro)
c.2653G>C (p.Ala885Pro)
n.2091G>C
c.3763G>C (p.Ala1255Pro)
c.3688G>C (p.Ala1230Pro)
c.2638G>C (p.Ala880Pro)
n.458G>C
c.2662G>C (p.Ala888Pro)
c.2713G>C (p.Ala905Pro)
c.2440G>C (p.Ala814Pro)
c.2764G>C (p.Ala922Pro)
c.2674G>C (p.Ala892Pro)
c.2665G>C (p.Ala889Pro)
3g.123284706C>TCA354222119ADCY5c.2365G>A (p.Ala789Thr)
c.2653G>A (p.Ala885Thr)
n.2091G>A
c.3763G>A (p.Ala1255Thr)
c.3688G>A (p.Ala1230Thr)
c.2638G>A (p.Ala880Thr)
n.458G>A
c.2662G>A (p.Ala888Thr)
c.2713G>A (p.Ala905Thr)
c.2440G>A (p.Ala814Thr)
c.2764G>A (p.Ala922Thr)
c.2674G>A (p.Ala892Thr)
c.2665G>A (p.Ala889Thr)
 COSMIC
3g.123284707A=CA1398327484ADCY5c.2364T= (p.Ala788=)
c.2652T= (p.Ala884=)
n.2090T=
c.3762T= (p.Ala1254=)
c.3687T= (p.Ala1229=)
c.2637T= (p.Ala879=)
n.457T=
c.2661T= (p.Ala887=)
c.2712T= (p.Ala904=)
c.2439T= (p.Ala813=)
c.2763T= (p.Ala921=)
c.2673T= (p.Ala891=)
c.2664T= (p.Ala888=)
3g.123284707A>CCA435297704ADCY5c.2364T>G (p.Ala788=)
c.2652T>G (p.Ala884=)
n.2090T>G
c.3762T>G (p.Ala1254=)
c.3687T>G (p.Ala1229=)
c.2637T>G (p.Ala879=)
n.457T>G
c.2661T>G (p.Ala887=)
c.2712T>G (p.Ala904=)
c.2439T>G (p.Ala813=)
c.2763T>G (p.Ala921=)
c.2673T>G (p.Ala891=)
c.2664T>G (p.Ala888=)
3g.123284707A>GCA82899795ADCY5c.2364T>C (p.Ala788=)
c.2652T>C (p.Ala884=)
n.2090T>C
c.3762T>C (p.Ala1254=)
c.3687T>C (p.Ala1229=)
c.2637T>C (p.Ala879=)
n.457T>C
c.2661T>C (p.Ala887=)
c.2712T>C (p.Ala904=)
c.2439T>C (p.Ala813=)
c.2763T>C (p.Ala921=)
c.2673T>C (p.Ala891=)
c.2664T>C (p.Ala888=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.123284707A>TCA435297705ADCY5c.2364T>A (p.Ala788=)
c.2652T>A (p.Ala884=)
n.2090T>A
c.3762T>A (p.Ala1254=)
c.3687T>A (p.Ala1229=)
c.2637T>A (p.Ala879=)
n.457T>A
c.2661T>A (p.Ala887=)
c.2712T>A (p.Ala904=)
c.2439T>A (p.Ala813=)
c.2763T>A (p.Ala921=)
c.2673T>A (p.Ala891=)
c.2664T>A (p.Ala888=)
3g.123284708G>ACA354222121ADCY5c.2363C>T (p.Ala788Val)
c.2651C>T (p.Ala884Val)
n.2089C>T
c.3761C>T (p.Ala1254Val)
c.3686C>T (p.Ala1229Val)
c.2636C>T (p.Ala879Val)
n.456C>T
c.2660C>T (p.Ala887Val)
c.2711C>T (p.Ala904Val)
c.2438C>T (p.Ala813Val)
c.2762C>T (p.Ala921Val)
c.2672C>T (p.Ala891Val)
c.2663C>T (p.Ala888Val)
3g.123284708G>CCA354222122ADCY5c.2363C>G (p.Ala788Gly)
c.2651C>G (p.Ala884Gly)
n.2089C>G
c.3761C>G (p.Ala1254Gly)
c.3686C>G (p.Ala1229Gly)
c.2636C>G (p.Ala879Gly)
n.456C>G
c.2660C>G (p.Ala887Gly)
c.2711C>G (p.Ala904Gly)
c.2438C>G (p.Ala813Gly)
c.2762C>G (p.Ala921Gly)
c.2672C>G (p.Ala891Gly)
c.2663C>G (p.Ala888Gly)
3g.123284708G>TCA354222120ADCY5c.2363C>A (p.Ala788Asp)
c.2651C>A (p.Ala884Asp)
n.2089C>A
c.3761C>A (p.Ala1254Asp)
c.3686C>A (p.Ala1229Asp)
c.2636C>A (p.Ala879Asp)
n.456C>A
c.2660C>A (p.Ala887Asp)
c.2711C>A (p.Ala904Asp)
c.2438C>A (p.Ala813Asp)
c.2762C>A (p.Ala921Asp)
c.2672C>A (p.Ala891Asp)
c.2663C>A (p.Ala888Asp)
3g.123284709C>ACA354222123ADCY5c.2362G>T (p.Ala788Ser)
c.2650G>T (p.Ala884Ser)
n.2088G>T
c.3760G>T (p.Ala1254Ser)
c.3685G>T (p.Ala1229Ser)
c.2635G>T (p.Ala879Ser)
n.455G>T
c.2659G>T (p.Ala887Ser)
c.2710G>T (p.Ala904Ser)
c.2437G>T (p.Ala813Ser)
c.2761G>T (p.Ala921Ser)
c.2671G>T (p.Ala891Ser)
c.2662G>T (p.Ala888Ser)
3g.123284709C>GCA354222125ADCY5c.2362G>C (p.Ala788Pro)
c.2650G>C (p.Ala884Pro)
n.2088G>C
c.3760G>C (p.Ala1254Pro)
c.3685G>C (p.Ala1229Pro)
c.2635G>C (p.Ala879Pro)
n.455G>C
c.2659G>C (p.Ala887Pro)
c.2710G>C (p.Ala904Pro)
c.2437G>C (p.Ala813Pro)
c.2761G>C (p.Ala921Pro)
c.2671G>C (p.Ala891Pro)
c.2662G>C (p.Ala888Pro)
3g.123284709C>TCA354222124ADCY5c.2362G>A (p.Ala788Thr)
c.2650G>A (p.Ala884Thr)
n.2088G>A
c.3760G>A (p.Ala1254Thr)
c.3685G>A (p.Ala1229Thr)
c.2635G>A (p.Ala879Thr)
n.455G>A
c.2659G>A (p.Ala887Thr)
c.2710G>A (p.Ala904Thr)
c.2437G>A (p.Ala813Thr)
c.2761G>A (p.Ala921Thr)
c.2671G>A (p.Ala891Thr)
c.2662G>A (p.Ala888Thr)
3g.123284710C>ACA435297706ADCY5c.2361G>T (p.Leu787=)
c.2649G>T (p.Leu883=)
n.2087G>T
c.3759G>T (p.Leu1253=)
c.3684G>T (p.Leu1228=)
c.2634G>T (p.Leu878=)
n.454G>T
c.2658G>T (p.Leu886=)
c.2709G>T (p.Leu903=)
c.2436G>T (p.Leu812=)
c.2760G>T (p.Leu920=)
c.2670G>T (p.Leu890=)
c.2661G>T (p.Leu887=)
3g.123284710C=CA1398327485ADCY5c.2361G= (p.Leu787=)
c.2649G= (p.Leu883=)
n.2087G=
c.3759G= (p.Leu1253=)
c.3684G= (p.Leu1228=)
c.2634G= (p.Leu878=)
n.454G=
c.2658G= (p.Leu886=)
c.2709G= (p.Leu903=)
c.2436G= (p.Leu812=)
c.2760G= (p.Leu920=)
c.2670G= (p.Leu890=)
c.2661G= (p.Leu887=)
3g.123284710C>GCA435297707ADCY5c.2361G>C (p.Leu787=)
c.2649G>C (p.Leu883=)
n.2087G>C
c.3759G>C (p.Leu1253=)
c.3684G>C (p.Leu1228=)
c.2634G>C (p.Leu878=)
n.454G>C
c.2658G>C (p.Leu886=)
c.2709G>C (p.Leu903=)
c.2436G>C (p.Leu812=)
c.2760G>C (p.Leu920=)
c.2670G>C (p.Leu890=)
c.2661G>C (p.Leu887=)
3g.123284710C>TCA2576700ADCY5c.2361G>A (p.Leu787=)
c.2649G>A (p.Leu883=)
n.2087G>A
c.3759G>A (p.Leu1253=)
c.3684G>A (p.Leu1228=)
c.2634G>A (p.Leu878=)
n.454G>A
c.2658G>A (p.Leu886=)
c.2709G>A (p.Leu903=)
c.2436G>A (p.Leu812=)
c.2760G>A (p.Leu920=)
c.2670G>A (p.Leu890=)
c.2661G>A (p.Leu887=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.123284711A>CCA354222126ADCY5c.2360T>G (p.Leu787Arg)
c.2648T>G (p.Leu883Arg)
n.2086T>G
c.3758T>G (p.Leu1253Arg)
c.3683T>G (p.Leu1228Arg)
c.2633T>G (p.Leu878Arg)
n.453T>G
c.2657T>G (p.Leu886Arg)
c.2708T>G (p.Leu903Arg)
c.2435T>G (p.Leu812Arg)
c.2759T>G (p.Leu920Arg)
c.2669T>G (p.Leu890Arg)
c.2660T>G (p.Leu887Arg)
3g.123284711A>GCA354222127ADCY5c.2360T>C (p.Leu787Pro)
c.2648T>C (p.Leu883Pro)
n.2086T>C
c.3758T>C (p.Leu1253Pro)
c.3683T>C (p.Leu1228Pro)
c.2633T>C (p.Leu878Pro)
n.453T>C
c.2657T>C (p.Leu886Pro)
c.2708T>C (p.Leu903Pro)
c.2435T>C (p.Leu812Pro)
c.2759T>C (p.Leu920Pro)
c.2669T>C (p.Leu890Pro)
c.2660T>C (p.Leu887Pro)
3g.123284711A>TCA354222128ADCY5c.2360T>A (p.Leu787Gln)
c.2648T>A (p.Leu883Gln)
n.2086T>A
c.3758T>A (p.Leu1253Gln)
c.3683T>A (p.Leu1228Gln)
c.2633T>A (p.Leu878Gln)
n.453T>A
c.2657T>A (p.Leu886Gln)
c.2708T>A (p.Leu903Gln)
c.2435T>A (p.Leu812Gln)
c.2759T>A (p.Leu920Gln)
c.2669T>A (p.Leu890Gln)
c.2660T>A (p.Leu887Gln)
3g.123284712delCA2740455151ADCY5c.2359del (p.Leu787TrpfsTer22)
c.2647del (p.Leu883TrpfsTer22)
n.2085del
c.3757del (p.Leu1253TrpfsTer22)
c.3682del (p.Leu1228TrpfsTer22)
c.2632del (p.Leu878TrpfsTer22)
n.452del
c.2656del (p.Leu886TrpfsTer22)
c.2707del (p.Leu903TrpfsTer22)
c.2434del (p.Leu812TrpfsTer22)
c.2758del (p.Leu920TrpfsTer22)
c.2668del (p.Leu890TrpfsTer22)
c.2659del (p.Leu887TrpfsTer22)
3g.123284712G>ACA435297708ADCY5c.2359C>T (p.Leu787=)
c.2647C>T (p.Leu883=)
n.2085C>T
c.3757C>T (p.Leu1253=)
c.3682C>T (p.Leu1228=)
c.2632C>T (p.Leu878=)
n.452C>T
c.2656C>T (p.Leu886=)
c.2707C>T (p.Leu903=)
c.2434C>T (p.Leu812=)
c.2758C>T (p.Leu920=)
c.2668C>T (p.Leu890=)
c.2659C>T (p.Leu887=)
 gnomAD v4
3g.123284712G>CCA354222129ADCY5c.2359C>G (p.Leu787Val)
c.2647C>G (p.Leu883Val)
n.2085C>G
c.3757C>G (p.Leu1253Val)
c.3682C>G (p.Leu1228Val)
c.2632C>G (p.Leu878Val)
n.452C>G
c.2656C>G (p.Leu886Val)
c.2707C>G (p.Leu903Val)
c.2434C>G (p.Leu812Val)
c.2758C>G (p.Leu920Val)
c.2668C>G (p.Leu890Val)
c.2659C>G (p.Leu887Val)
3g.123284712G>TCA354222130ADCY5c.2359C>A (p.Leu787Met)
c.2647C>A (p.Leu883Met)
n.2085C>A
c.3757C>A (p.Leu1253Met)
c.3682C>A (p.Leu1228Met)
c.2632C>A (p.Leu878Met)
n.452C>A
c.2656C>A (p.Leu886Met)
c.2707C>A (p.Leu903Met)
c.2434C>A (p.Leu812Met)
c.2758C>A (p.Leu920Met)
c.2668C>A (p.Leu890Met)
c.2659C>A (p.Leu887Met)
 COSMIC

Number of alleles fetched