Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.24824446C>A | CA346063614 | ADCY3 | c.2671G>T (p.Ala891Ser) c.2668G>T (p.Ala890Ser) c.1609G>T (p.Ala537Ser) c.2737G>T (p.Ala913Ser) c.2794G>T (p.Ala932Ser) c.2791G>T (p.Ala931Ser) c.2728G>T (p.Ala910Ser) c.2656G>T (p.Ala886Ser) c.2596G>T (p.Ala866Ser) c.2128G>T (p.Ala710Ser) c.2071G>T (p.Ala691Ser) c.2734G>T (p.Ala912Ser) c.2725G>T (p.Ala909Ser) c.2653G>T (p.Ala885Ser) c.2530G>T (p.Ala844Ser) c.2158G>T (p.Ala720Ser) c.1948G>T (p.Ala650Ser) c.1945G>T (p.Ala649Ser) c.2263G>T (p.Ala755Ser) | |
2 | g.24824446C>G | CA346063615 | ADCY3 | c.2671G>C (p.Ala891Pro) c.2668G>C (p.Ala890Pro) c.1609G>C (p.Ala537Pro) c.2737G>C (p.Ala913Pro) c.2794G>C (p.Ala932Pro) c.2791G>C (p.Ala931Pro) c.2728G>C (p.Ala910Pro) c.2656G>C (p.Ala886Pro) c.2596G>C (p.Ala866Pro) c.2128G>C (p.Ala710Pro) c.2071G>C (p.Ala691Pro) c.2734G>C (p.Ala912Pro) c.2725G>C (p.Ala909Pro) c.2653G>C (p.Ala885Pro) c.2530G>C (p.Ala844Pro) c.2158G>C (p.Ala720Pro) c.1948G>C (p.Ala650Pro) c.1945G>C (p.Ala649Pro) c.2263G>C (p.Ala755Pro) | |
2 | g.24824446C>T | CA346063616 | ADCY3 | c.2671G>A (p.Ala891Thr) c.2668G>A (p.Ala890Thr) c.1609G>A (p.Ala537Thr) c.2737G>A (p.Ala913Thr) c.2794G>A (p.Ala932Thr) c.2791G>A (p.Ala931Thr) c.2728G>A (p.Ala910Thr) c.2656G>A (p.Ala886Thr) c.2596G>A (p.Ala866Thr) c.2128G>A (p.Ala710Thr) c.2071G>A (p.Ala691Thr) c.2734G>A (p.Ala912Thr) c.2725G>A (p.Ala909Thr) c.2653G>A (p.Ala885Thr) c.2530G>A (p.Ala844Thr) c.2158G>A (p.Ala720Thr) c.1948G>A (p.Ala650Thr) c.1945G>A (p.Ala649Thr) c.2263G>A (p.Ala755Thr) | gnomAD v4 |
2 | g.24824447C>A | CA346063618 | ADCY3 | c.2670G>T (p.Glu890Asp) c.2667G>T (p.Glu889Asp) c.1608G>T (p.Glu536Asp) c.2736G>T (p.Glu912Asp) c.2793G>T (p.Glu931Asp) c.2790G>T (p.Glu930Asp) c.2727G>T (p.Glu909Asp) c.2655G>T (p.Glu885Asp) c.2595G>T (p.Glu865Asp) c.2127G>T (p.Glu709Asp) c.2070G>T (p.Glu690Asp) c.2733G>T (p.Glu911Asp) c.2724G>T (p.Glu908Asp) c.2652G>T (p.Glu884Asp) c.2529G>T (p.Glu843Asp) c.2157G>T (p.Glu719Asp) c.1947G>T (p.Glu649Asp) c.1944G>T (p.Glu648Asp) c.2262G>T (p.Glu754Asp) | |
2 | g.24824447C= | CA1239072925 | ADCY3 | c.2670G= (p.Glu890=) c.2667G= (p.Glu889=) c.1608G= (p.Glu536=) c.2736G= (p.Glu912=) c.2793G= (p.Glu931=) c.2790G= (p.Glu930=) c.2727G= (p.Glu909=) c.2655G= (p.Glu885=) c.2595G= (p.Glu865=) c.2127G= (p.Glu709=) c.2070G= (p.Glu690=) c.2733G= (p.Glu911=) c.2724G= (p.Glu908=) c.2652G= (p.Glu884=) c.2529G= (p.Glu843=) c.2157G= (p.Glu719=) c.1947G= (p.Glu649=) c.1944G= (p.Glu648=) c.2262G= (p.Glu754=) | |
2 | g.24824447C>G | CA346063619 | ADCY3 | c.2670G>C (p.Glu890Asp) c.2667G>C (p.Glu889Asp) c.1608G>C (p.Glu536Asp) c.2736G>C (p.Glu912Asp) c.2793G>C (p.Glu931Asp) c.2790G>C (p.Glu930Asp) c.2727G>C (p.Glu909Asp) c.2655G>C (p.Glu885Asp) c.2595G>C (p.Glu865Asp) c.2127G>C (p.Glu709Asp) c.2070G>C (p.Glu690Asp) c.2733G>C (p.Glu911Asp) c.2724G>C (p.Glu908Asp) c.2652G>C (p.Glu884Asp) c.2529G>C (p.Glu843Asp) c.2157G>C (p.Glu719Asp) c.1947G>C (p.Glu649Asp) c.1944G>C (p.Glu648Asp) c.2262G>C (p.Glu754Asp) | |
2 | g.24824447C>T | CA425172180 | ADCY3 | c.2670G>A (p.Glu890=) c.2667G>A (p.Glu889=) c.1608G>A (p.Glu536=) c.2736G>A (p.Glu912=) c.2793G>A (p.Glu931=) c.2790G>A (p.Glu930=) c.2727G>A (p.Glu909=) c.2655G>A (p.Glu885=) c.2595G>A (p.Glu865=) c.2127G>A (p.Glu709=) c.2070G>A (p.Glu690=) c.2733G>A (p.Glu911=) c.2724G>A (p.Glu908=) c.2652G>A (p.Glu884=) c.2529G>A (p.Glu843=) c.2157G>A (p.Glu719=) c.1947G>A (p.Glu649=) c.1944G>A (p.Glu648=) c.2262G>A (p.Glu754=) | dbSNP |
2 | g.24824448T>A | CA346063620 | ADCY3 | c.2669A>T (p.Glu890Val) c.2666A>T (p.Glu889Val) c.1607A>T (p.Glu536Val) c.2735A>T (p.Glu912Val) c.2792A>T (p.Glu931Val) c.2789A>T (p.Glu930Val) c.2726A>T (p.Glu909Val) c.2654A>T (p.Glu885Val) c.2594A>T (p.Glu865Val) c.2126A>T (p.Glu709Val) c.2069A>T (p.Glu690Val) c.2732A>T (p.Glu911Val) c.2723A>T (p.Glu908Val) c.2651A>T (p.Glu884Val) c.2528A>T (p.Glu843Val) c.2156A>T (p.Glu719Val) c.1946A>T (p.Glu649Val) c.1943A>T (p.Glu648Val) c.2261A>T (p.Glu754Val) | |
2 | g.24824448T>C | CA346063621 | ADCY3 | c.2669A>G (p.Glu890Gly) c.2666A>G (p.Glu889Gly) c.1607A>G (p.Glu536Gly) c.2735A>G (p.Glu912Gly) c.2792A>G (p.Glu931Gly) c.2789A>G (p.Glu930Gly) c.2726A>G (p.Glu909Gly) c.2654A>G (p.Glu885Gly) c.2594A>G (p.Glu865Gly) c.2126A>G (p.Glu709Gly) c.2069A>G (p.Glu690Gly) c.2732A>G (p.Glu911Gly) c.2723A>G (p.Glu908Gly) c.2651A>G (p.Glu884Gly) c.2528A>G (p.Glu843Gly) c.2156A>G (p.Glu719Gly) c.1946A>G (p.Glu649Gly) c.1943A>G (p.Glu648Gly) c.2261A>G (p.Glu754Gly) | gnomAD v4 |
2 | g.24824448T>G | CA346063622 | ADCY3 | c.2669A>C (p.Glu890Ala) c.2666A>C (p.Glu889Ala) c.1607A>C (p.Glu536Ala) c.2735A>C (p.Glu912Ala) c.2792A>C (p.Glu931Ala) c.2789A>C (p.Glu930Ala) c.2726A>C (p.Glu909Ala) c.2654A>C (p.Glu885Ala) c.2594A>C (p.Glu865Ala) c.2126A>C (p.Glu709Ala) c.2069A>C (p.Glu690Ala) c.2732A>C (p.Glu911Ala) c.2723A>C (p.Glu908Ala) c.2651A>C (p.Glu884Ala) c.2528A>C (p.Glu843Ala) c.2156A>C (p.Glu719Ala) c.1946A>C (p.Glu649Ala) c.1943A>C (p.Glu648Ala) c.2261A>C (p.Glu754Ala) | |
2 | g.24824449C>A | CA346063623 | ADCY3 | c.2668G>T (p.Glu890Ter) c.2665G>T (p.Glu889Ter) c.1606G>T (p.Glu536Ter) c.2734G>T (p.Glu912Ter) c.2791G>T (p.Glu931Ter) c.2788G>T (p.Glu930Ter) c.2725G>T (p.Glu909Ter) c.2653G>T (p.Glu885Ter) c.2593G>T (p.Glu865Ter) c.2125G>T (p.Glu709Ter) c.2068G>T (p.Glu690Ter) c.2731G>T (p.Glu911Ter) c.2722G>T (p.Glu908Ter) c.2650G>T (p.Glu884Ter) c.2527G>T (p.Glu843Ter) c.2155G>T (p.Glu719Ter) c.1945G>T (p.Glu649Ter) c.1942G>T (p.Glu648Ter) c.2260G>T (p.Glu754Ter) | |
2 | g.24824449C= | CA1239072926 | ADCY3 | c.2668G= (p.Glu890=) c.2665G= (p.Glu889=) c.1606G= (p.Glu536=) c.2734G= (p.Glu912=) c.2791G= (p.Glu931=) c.2788G= (p.Glu930=) c.2725G= (p.Glu909=) c.2653G= (p.Glu885=) c.2593G= (p.Glu865=) c.2125G= (p.Glu709=) c.2068G= (p.Glu690=) c.2731G= (p.Glu911=) c.2722G= (p.Glu908=) c.2650G= (p.Glu884=) c.2527G= (p.Glu843=) c.2155G= (p.Glu719=) c.1945G= (p.Glu649=) c.1942G= (p.Glu648=) c.2260G= (p.Glu754=) | |
2 | g.24824449C>G | CA346063624 | ADCY3 | c.2668G>C (p.Glu890Gln) c.2665G>C (p.Glu889Gln) c.1606G>C (p.Glu536Gln) c.2734G>C (p.Glu912Gln) c.2791G>C (p.Glu931Gln) c.2788G>C (p.Glu930Gln) c.2725G>C (p.Glu909Gln) c.2653G>C (p.Glu885Gln) c.2593G>C (p.Glu865Gln) c.2125G>C (p.Glu709Gln) c.2068G>C (p.Glu690Gln) c.2731G>C (p.Glu911Gln) c.2722G>C (p.Glu908Gln) c.2650G>C (p.Glu884Gln) c.2527G>C (p.Glu843Gln) c.2155G>C (p.Glu719Gln) c.1945G>C (p.Glu649Gln) c.1942G>C (p.Glu648Gln) c.2260G>C (p.Glu754Gln) | |
2 | g.24824449C>T | CA1553650 | ADCY3 | c.2668G>A (p.Glu890Lys) c.2665G>A (p.Glu889Lys) c.1606G>A (p.Glu536Lys) c.2734G>A (p.Glu912Lys) c.2791G>A (p.Glu931Lys) c.2788G>A (p.Glu930Lys) c.2725G>A (p.Glu909Lys) c.2653G>A (p.Glu885Lys) c.2593G>A (p.Glu865Lys) c.2125G>A (p.Glu709Lys) c.2068G>A (p.Glu690Lys) c.2731G>A (p.Glu911Lys) c.2722G>A (p.Glu908Lys) c.2650G>A (p.Glu884Lys) c.2527G>A (p.Glu843Lys) c.2155G>A (p.Glu719Lys) c.1945G>A (p.Glu649Lys) c.1942G>A (p.Glu648Lys) c.2260G>A (p.Glu754Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.24824450G>A | CA43683271 | ADCY3 | c.2667C>T (p.Asn889=) c.2664C>T (p.Asn888=) c.1605C>T (p.Asn535=) c.2733C>T (p.Asn911=) c.2790C>T (p.Asn930=) c.2787C>T (p.Asn929=) c.2724C>T (p.Asn908=) c.2652C>T (p.Asn884=) c.2592C>T (p.Asn864=) c.2124C>T (p.Asn708=) c.2067C>T (p.Asn689=) c.2730C>T (p.Asn910=) c.2721C>T (p.Asn907=) c.2649C>T (p.Asn883=) c.2526C>T (p.Asn842=) c.2154C>T (p.Asn718=) c.1944C>T (p.Asn648=) c.1941C>T (p.Asn647=) c.2259C>T (p.Asn753=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.24824450G>C | CA346063625 | ADCY3 | c.2667C>G (p.Asn889Lys) c.2664C>G (p.Asn888Lys) c.1605C>G (p.Asn535Lys) c.2733C>G (p.Asn911Lys) c.2790C>G (p.Asn930Lys) c.2787C>G (p.Asn929Lys) c.2724C>G (p.Asn908Lys) c.2652C>G (p.Asn884Lys) c.2592C>G (p.Asn864Lys) c.2124C>G (p.Asn708Lys) c.2067C>G (p.Asn689Lys) c.2730C>G (p.Asn910Lys) c.2721C>G (p.Asn907Lys) c.2649C>G (p.Asn883Lys) c.2526C>G (p.Asn842Lys) c.2154C>G (p.Asn718Lys) c.1944C>G (p.Asn648Lys) c.1941C>G (p.Asn647Lys) c.2259C>G (p.Asn753Lys) | |
2 | g.24824450G= | CA1239072927 | ADCY3 | c.2667C= (p.Asn889=) c.2664C= (p.Asn888=) c.1605C= (p.Asn535=) c.2733C= (p.Asn911=) c.2790C= (p.Asn930=) c.2787C= (p.Asn929=) c.2724C= (p.Asn908=) c.2652C= (p.Asn884=) c.2592C= (p.Asn864=) c.2124C= (p.Asn708=) c.2067C= (p.Asn689=) c.2730C= (p.Asn910=) c.2721C= (p.Asn907=) c.2649C= (p.Asn883=) c.2526C= (p.Asn842=) c.2154C= (p.Asn718=) c.1944C= (p.Asn648=) c.1941C= (p.Asn647=) c.2259C= (p.Asn753=) | |
2 | g.24824450G>T | CA346063626 | ADCY3 | c.2667C>A (p.Asn889Lys) c.2664C>A (p.Asn888Lys) c.1605C>A (p.Asn535Lys) c.2733C>A (p.Asn911Lys) c.2790C>A (p.Asn930Lys) c.2787C>A (p.Asn929Lys) c.2724C>A (p.Asn908Lys) c.2652C>A (p.Asn884Lys) c.2592C>A (p.Asn864Lys) c.2124C>A (p.Asn708Lys) c.2067C>A (p.Asn689Lys) c.2730C>A (p.Asn910Lys) c.2721C>A (p.Asn907Lys) c.2649C>A (p.Asn883Lys) c.2526C>A (p.Asn842Lys) c.2154C>A (p.Asn718Lys) c.1944C>A (p.Asn648Lys) c.1941C>A (p.Asn647Lys) c.2259C>A (p.Asn753Lys) | |
2 | g.24824451_24824456del | CA2749194225 | ADCY3 | c.2662_2667del (p.Trp888_Asn889del) c.2659_2664del (p.Trp887_Asn888del) c.1600_1605del (p.Trp534_Asn535del) c.2728_2733del (p.Trp910_Asn911del) c.2785_2790del (p.Trp929_Asn930del) c.2782_2787del (p.Trp928_Asn929del) c.2719_2724del (p.Trp907_Asn908del) c.2647_2652del (p.Trp883_Asn884del) c.2587_2592del (p.Trp863_Asn864del) c.2119_2124del (p.Trp707_Asn708del) c.2062_2067del (p.Trp688_Asn689del) c.2725_2730del (p.Trp909_Asn910del) c.2716_2721del (p.Trp906_Asn907del) c.2644_2649del (p.Trp882_Asn883del) c.2521_2526del (p.Trp841_Asn842del) c.2149_2154del (p.Trp717_Asn718del) c.1939_1944del (p.Trp647_Asn648del) c.1936_1941del (p.Trp646_Asn647del) c.2254_2259del (p.Trp752_Asn753del) | |
2 | g.24824451T>A | CA346063627 | ADCY3 | c.2666A>T (p.Asn889Ile) c.2663A>T (p.Asn888Ile) c.1604A>T (p.Asn535Ile) c.2732A>T (p.Asn911Ile) c.2789A>T (p.Asn930Ile) c.2786A>T (p.Asn929Ile) c.2723A>T (p.Asn908Ile) c.2651A>T (p.Asn884Ile) c.2591A>T (p.Asn864Ile) c.2123A>T (p.Asn708Ile) c.2066A>T (p.Asn689Ile) c.2729A>T (p.Asn910Ile) c.2720A>T (p.Asn907Ile) c.2648A>T (p.Asn883Ile) c.2525A>T (p.Asn842Ile) c.2153A>T (p.Asn718Ile) c.1943A>T (p.Asn648Ile) c.1940A>T (p.Asn647Ile) c.2258A>T (p.Asn753Ile) | |
2 | g.24824451T>C | CA346063628 | ADCY3 | c.2666A>G (p.Asn889Ser) c.2663A>G (p.Asn888Ser) c.1604A>G (p.Asn535Ser) c.2732A>G (p.Asn911Ser) c.2789A>G (p.Asn930Ser) c.2786A>G (p.Asn929Ser) c.2723A>G (p.Asn908Ser) c.2651A>G (p.Asn884Ser) c.2591A>G (p.Asn864Ser) c.2123A>G (p.Asn708Ser) c.2066A>G (p.Asn689Ser) c.2729A>G (p.Asn910Ser) c.2720A>G (p.Asn907Ser) c.2648A>G (p.Asn883Ser) c.2525A>G (p.Asn842Ser) c.2153A>G (p.Asn718Ser) c.1943A>G (p.Asn648Ser) c.1940A>G (p.Asn647Ser) c.2258A>G (p.Asn753Ser) | |
2 | g.24824451T>G | CA346063629 | ADCY3 | c.2666A>C (p.Asn889Thr) c.2663A>C (p.Asn888Thr) c.1604A>C (p.Asn535Thr) c.2732A>C (p.Asn911Thr) c.2789A>C (p.Asn930Thr) c.2786A>C (p.Asn929Thr) c.2723A>C (p.Asn908Thr) c.2651A>C (p.Asn884Thr) c.2591A>C (p.Asn864Thr) c.2123A>C (p.Asn708Thr) c.2066A>C (p.Asn689Thr) c.2729A>C (p.Asn910Thr) c.2720A>C (p.Asn907Thr) c.2648A>C (p.Asn883Thr) c.2525A>C (p.Asn842Thr) c.2153A>C (p.Asn718Thr) c.1943A>C (p.Asn648Thr) c.1940A>C (p.Asn647Thr) c.2258A>C (p.Asn753Thr) | |
2 | g.24824452T>A | CA346063632 | ADCY3 | c.2665A>T (p.Asn889Tyr) c.2662A>T (p.Asn888Tyr) c.1603A>T (p.Asn535Tyr) c.2731A>T (p.Asn911Tyr) c.2788A>T (p.Asn930Tyr) c.2785A>T (p.Asn929Tyr) c.2722A>T (p.Asn908Tyr) c.2650A>T (p.Asn884Tyr) c.2590A>T (p.Asn864Tyr) c.2122A>T (p.Asn708Tyr) c.2065A>T (p.Asn689Tyr) c.2728A>T (p.Asn910Tyr) c.2719A>T (p.Asn907Tyr) c.2647A>T (p.Asn883Tyr) c.2524A>T (p.Asn842Tyr) c.2152A>T (p.Asn718Tyr) c.1942A>T (p.Asn648Tyr) c.1939A>T (p.Asn647Tyr) c.2257A>T (p.Asn753Tyr) | |
2 | g.24824452T>C | CA346063631 | ADCY3 | c.2665A>G (p.Asn889Asp) c.2662A>G (p.Asn888Asp) c.1603A>G (p.Asn535Asp) c.2731A>G (p.Asn911Asp) c.2788A>G (p.Asn930Asp) c.2785A>G (p.Asn929Asp) c.2722A>G (p.Asn908Asp) c.2650A>G (p.Asn884Asp) c.2590A>G (p.Asn864Asp) c.2122A>G (p.Asn708Asp) c.2065A>G (p.Asn689Asp) c.2728A>G (p.Asn910Asp) c.2719A>G (p.Asn907Asp) c.2647A>G (p.Asn883Asp) c.2524A>G (p.Asn842Asp) c.2152A>G (p.Asn718Asp) c.1942A>G (p.Asn648Asp) c.1939A>G (p.Asn647Asp) c.2257A>G (p.Asn753Asp) | |
2 | g.24824452T>G | CA346063630 | ADCY3 | c.2665A>C (p.Asn889His) c.2662A>C (p.Asn888His) c.1603A>C (p.Asn535His) c.2731A>C (p.Asn911His) c.2788A>C (p.Asn930His) c.2785A>C (p.Asn929His) c.2722A>C (p.Asn908His) c.2650A>C (p.Asn884His) c.2590A>C (p.Asn864His) c.2122A>C (p.Asn708His) c.2065A>C (p.Asn689His) c.2728A>C (p.Asn910His) c.2719A>C (p.Asn907His) c.2647A>C (p.Asn883His) c.2524A>C (p.Asn842His) c.2152A>C (p.Asn718His) c.1942A>C (p.Asn648His) c.1939A>C (p.Asn647His) c.2257A>C (p.Asn753His) | gnomAD v4 |
2 | g.24824453C>A | CA346063637 | ADCY3 | c.2664G>T (p.Trp888Cys) c.2661G>T (p.Trp887Cys) c.1602G>T (p.Trp534Cys) c.2730G>T (p.Trp910Cys) c.2787G>T (p.Trp929Cys) c.2784G>T (p.Trp928Cys) c.2721G>T (p.Trp907Cys) c.2649G>T (p.Trp883Cys) c.2589G>T (p.Trp863Cys) c.2121G>T (p.Trp707Cys) c.2064G>T (p.Trp688Cys) c.2727G>T (p.Trp909Cys) c.2718G>T (p.Trp906Cys) c.2646G>T (p.Trp882Cys) c.2523G>T (p.Trp841Cys) c.2151G>T (p.Trp717Cys) c.1941G>T (p.Trp647Cys) c.1938G>T (p.Trp646Cys) c.2256G>T (p.Trp752Cys) | |
2 | g.24824453C>G | CA346063634 | ADCY3 | c.2664G>C (p.Trp888Cys) c.2661G>C (p.Trp887Cys) c.1602G>C (p.Trp534Cys) c.2730G>C (p.Trp910Cys) c.2787G>C (p.Trp929Cys) c.2784G>C (p.Trp928Cys) c.2721G>C (p.Trp907Cys) c.2649G>C (p.Trp883Cys) c.2589G>C (p.Trp863Cys) c.2121G>C (p.Trp707Cys) c.2064G>C (p.Trp688Cys) c.2727G>C (p.Trp909Cys) c.2718G>C (p.Trp906Cys) c.2646G>C (p.Trp882Cys) c.2523G>C (p.Trp841Cys) c.2151G>C (p.Trp717Cys) c.1941G>C (p.Trp647Cys) c.1938G>C (p.Trp646Cys) c.2256G>C (p.Trp752Cys) | gnomAD v4 |
2 | g.24824453C>T | CA346063636 | ADCY3 | c.2664G>A (p.Trp888Ter) c.2661G>A (p.Trp887Ter) c.1602G>A (p.Trp534Ter) c.2730G>A (p.Trp910Ter) c.2787G>A (p.Trp929Ter) c.2784G>A (p.Trp928Ter) c.2721G>A (p.Trp907Ter) c.2649G>A (p.Trp883Ter) c.2589G>A (p.Trp863Ter) c.2121G>A (p.Trp707Ter) c.2064G>A (p.Trp688Ter) c.2727G>A (p.Trp909Ter) c.2718G>A (p.Trp906Ter) c.2646G>A (p.Trp882Ter) c.2523G>A (p.Trp841Ter) c.2151G>A (p.Trp717Ter) c.1941G>A (p.Trp647Ter) c.1938G>A (p.Trp646Ter) c.2256G>A (p.Trp752Ter) | |
2 | g.24824454C>A | CA346063639 | ADCY3 | c.2663G>T (p.Trp888Leu) c.2660G>T (p.Trp887Leu) c.1601G>T (p.Trp534Leu) c.2729G>T (p.Trp910Leu) c.2786G>T (p.Trp929Leu) c.2783G>T (p.Trp928Leu) c.2720G>T (p.Trp907Leu) c.2648G>T (p.Trp883Leu) c.2588G>T (p.Trp863Leu) c.2120G>T (p.Trp707Leu) c.2063G>T (p.Trp688Leu) c.2726G>T (p.Trp909Leu) c.2717G>T (p.Trp906Leu) c.2645G>T (p.Trp882Leu) c.2522G>T (p.Trp841Leu) c.2150G>T (p.Trp717Leu) c.1940G>T (p.Trp647Leu) c.1937G>T (p.Trp646Leu) c.2255G>T (p.Trp752Leu) | |
2 | g.24824454C>G | CA346063640 | ADCY3 | c.2663G>C (p.Trp888Ser) c.2660G>C (p.Trp887Ser) c.1601G>C (p.Trp534Ser) c.2729G>C (p.Trp910Ser) c.2786G>C (p.Trp929Ser) c.2783G>C (p.Trp928Ser) c.2720G>C (p.Trp907Ser) c.2648G>C (p.Trp883Ser) c.2588G>C (p.Trp863Ser) c.2120G>C (p.Trp707Ser) c.2063G>C (p.Trp688Ser) c.2726G>C (p.Trp909Ser) c.2717G>C (p.Trp906Ser) c.2645G>C (p.Trp882Ser) c.2522G>C (p.Trp841Ser) c.2150G>C (p.Trp717Ser) c.1940G>C (p.Trp647Ser) c.1937G>C (p.Trp646Ser) c.2255G>C (p.Trp752Ser) | |
2 | g.24824454C>T | CA346063642 | ADCY3 | c.2663G>A (p.Trp888Ter) c.2660G>A (p.Trp887Ter) c.1601G>A (p.Trp534Ter) c.2729G>A (p.Trp910Ter) c.2786G>A (p.Trp929Ter) c.2783G>A (p.Trp928Ter) c.2720G>A (p.Trp907Ter) c.2648G>A (p.Trp883Ter) c.2588G>A (p.Trp863Ter) c.2120G>A (p.Trp707Ter) c.2063G>A (p.Trp688Ter) c.2726G>A (p.Trp909Ter) c.2717G>A (p.Trp906Ter) c.2645G>A (p.Trp882Ter) c.2522G>A (p.Trp841Ter) c.2150G>A (p.Trp717Ter) c.1940G>A (p.Trp647Ter) c.1937G>A (p.Trp646Ter) c.2255G>A (p.Trp752Ter) | gnomAD v4 |
2 | g.24824455A>C | CA346063647 | ADCY3 | c.2662T>G (p.Trp888Gly) c.2659T>G (p.Trp887Gly) c.1600T>G (p.Trp534Gly) c.2728T>G (p.Trp910Gly) c.2785T>G (p.Trp929Gly) c.2782T>G (p.Trp928Gly) c.2719T>G (p.Trp907Gly) c.2647T>G (p.Trp883Gly) c.2587T>G (p.Trp863Gly) c.2119T>G (p.Trp707Gly) c.2062T>G (p.Trp688Gly) c.2725T>G (p.Trp909Gly) c.2716T>G (p.Trp906Gly) c.2644T>G (p.Trp882Gly) c.2521T>G (p.Trp841Gly) c.2149T>G (p.Trp717Gly) c.1939T>G (p.Trp647Gly) c.1936T>G (p.Trp646Gly) c.2254T>G (p.Trp752Gly) | |
2 | g.24824455A>G | CA346063646 | ADCY3 | c.2662T>C (p.Trp888Arg) c.2659T>C (p.Trp887Arg) c.1600T>C (p.Trp534Arg) c.2728T>C (p.Trp910Arg) c.2785T>C (p.Trp929Arg) c.2782T>C (p.Trp928Arg) c.2719T>C (p.Trp907Arg) c.2647T>C (p.Trp883Arg) c.2587T>C (p.Trp863Arg) c.2119T>C (p.Trp707Arg) c.2062T>C (p.Trp688Arg) c.2725T>C (p.Trp909Arg) c.2716T>C (p.Trp906Arg) c.2644T>C (p.Trp882Arg) c.2521T>C (p.Trp841Arg) c.2149T>C (p.Trp717Arg) c.1939T>C (p.Trp647Arg) c.1936T>C (p.Trp646Arg) c.2254T>C (p.Trp752Arg) | gnomAD v4 |
2 | g.24824455A>T | CA346063644 | ADCY3 | c.2662T>A (p.Trp888Arg) c.2659T>A (p.Trp887Arg) c.1600T>A (p.Trp534Arg) c.2728T>A (p.Trp910Arg) c.2785T>A (p.Trp929Arg) c.2782T>A (p.Trp928Arg) c.2719T>A (p.Trp907Arg) c.2647T>A (p.Trp883Arg) c.2587T>A (p.Trp863Arg) c.2119T>A (p.Trp707Arg) c.2062T>A (p.Trp688Arg) c.2725T>A (p.Trp909Arg) c.2716T>A (p.Trp906Arg) c.2644T>A (p.Trp882Arg) c.2521T>A (p.Trp841Arg) c.2149T>A (p.Trp717Arg) c.1939T>A (p.Trp647Arg) c.1936T>A (p.Trp646Arg) c.2254T>A (p.Trp752Arg) | |
2 | g.24824456G>A | CA425172181 | ADCY3 | c.2661C>T (p.Arg887=) c.2658C>T (p.Arg886=) c.1599C>T (p.Arg533=) c.2727C>T (p.Arg909=) c.2784C>T (p.Arg928=) c.2781C>T (p.Arg927=) c.2718C>T (p.Arg906=) c.2646C>T (p.Arg882=) c.2586C>T (p.Arg862=) c.2118C>T (p.Arg706=) c.2061C>T (p.Arg687=) c.2724C>T (p.Arg908=) c.2715C>T (p.Arg905=) c.2643C>T (p.Arg881=) c.2520C>T (p.Arg840=) c.2148C>T (p.Arg716=) c.1938C>T (p.Arg646=) c.1935C>T (p.Arg645=) c.2253C>T (p.Arg751=) | |
2 | g.24824456G>C | CA425172182 | ADCY3 | c.2661C>G (p.Arg887=) c.2658C>G (p.Arg886=) c.1599C>G (p.Arg533=) c.2727C>G (p.Arg909=) c.2784C>G (p.Arg928=) c.2781C>G (p.Arg927=) c.2718C>G (p.Arg906=) c.2646C>G (p.Arg882=) c.2586C>G (p.Arg862=) c.2118C>G (p.Arg706=) c.2061C>G (p.Arg687=) c.2724C>G (p.Arg908=) c.2715C>G (p.Arg905=) c.2643C>G (p.Arg881=) c.2520C>G (p.Arg840=) c.2148C>G (p.Arg716=) c.1938C>G (p.Arg646=) c.1935C>G (p.Arg645=) c.2253C>G (p.Arg751=) | |
2 | g.24824456G>T | CA425172183 | ADCY3 | c.2661C>A (p.Arg887=) c.2658C>A (p.Arg886=) c.1599C>A (p.Arg533=) c.2727C>A (p.Arg909=) c.2784C>A (p.Arg928=) c.2781C>A (p.Arg927=) c.2718C>A (p.Arg906=) c.2646C>A (p.Arg882=) c.2586C>A (p.Arg862=) c.2118C>A (p.Arg706=) c.2061C>A (p.Arg687=) c.2724C>A (p.Arg908=) c.2715C>A (p.Arg905=) c.2643C>A (p.Arg881=) c.2520C>A (p.Arg840=) c.2148C>A (p.Arg716=) c.1938C>A (p.Arg646=) c.1935C>A (p.Arg645=) c.2253C>A (p.Arg751=) | |
2 | g.24824456_24824457delinsGC | CA1239072928 | ADCY3 | c.2660_2661delinsGC (p.Arg887=) c.2657_2658delinsGC (p.Arg886=) c.1598_1599delinsGC (p.Arg533=) c.2726_2727delinsGC (p.Arg909=) c.2783_2784delinsGC (p.Arg928=) c.2780_2781delinsGC (p.Arg927=) c.2717_2718delinsGC (p.Arg906=) c.2645_2646delinsGC (p.Arg882=) c.2585_2586delinsGC (p.Arg862=) c.2117_2118delinsGC (p.Arg706=) c.2060_2061delinsGC (p.Arg687=) c.2723_2724delinsGC (p.Arg908=) c.2714_2715delinsGC (p.Arg905=) c.2642_2643delinsGC (p.Arg881=) c.2519_2520delinsGC (p.Arg840=) c.2147_2148delinsGC (p.Arg716=) c.1937_1938delinsGC (p.Arg646=) c.1934_1935delinsGC (p.Arg645=) c.2252_2253delinsGC (p.Arg751=) | |
2 | g.24824457del | CA1028474613 | ADCY3 | c.2660del (p.Arg887ProfsTer?) c.2657del (p.Arg886ProfsTer?) c.1598del (p.Arg533ProfsTer?) c.2726del (p.Arg909ProfsTer?) c.2783del (p.Arg928ProfsTer?) c.2780del (p.Arg927ProfsTer?) c.2717del (p.Arg906ProfsTer?) c.2645del (p.Arg882ProfsTer?) c.2585del (p.Arg862ProfsTer?) c.2117del (p.Arg706ProfsTer?) c.2060del (p.Arg687ProfsTer?) c.2723del (p.Arg908ProfsTer?) c.2714del (p.Arg905ProfsTer?) c.2642del (p.Arg881ProfsTer?) c.2519del (p.Arg840ProfsTer?) c.2147del (p.Arg716ProfsTer?) c.1937del (p.Arg646ProfsTer?) c.1934del (p.Arg645ProfsTer?) c.2252del (p.Arg751ProfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.24824457C>A | CA346063648 | ADCY3 | c.2660G>T (p.Arg887Leu) c.2657G>T (p.Arg886Leu) c.1598G>T (p.Arg533Leu) c.2726G>T (p.Arg909Leu) c.2783G>T (p.Arg928Leu) c.2780G>T (p.Arg927Leu) c.2717G>T (p.Arg906Leu) c.2645G>T (p.Arg882Leu) c.2585G>T (p.Arg862Leu) c.2117G>T (p.Arg706Leu) c.2060G>T (p.Arg687Leu) c.2723G>T (p.Arg908Leu) c.2714G>T (p.Arg905Leu) c.2642G>T (p.Arg881Leu) c.2519G>T (p.Arg840Leu) c.2147G>T (p.Arg716Leu) c.1937G>T (p.Arg646Leu) c.1934G>T (p.Arg645Leu) c.2252G>T (p.Arg751Leu) | |
2 | g.24824457C= | CA1239072929 | ADCY3 | c.2660G= (p.Arg887=) c.2657G= (p.Arg886=) c.1598G= (p.Arg533=) c.2726G= (p.Arg909=) c.2783G= (p.Arg928=) c.2780G= (p.Arg927=) c.2717G= (p.Arg906=) c.2645G= (p.Arg882=) c.2585G= (p.Arg862=) c.2117G= (p.Arg706=) c.2060G= (p.Arg687=) c.2723G= (p.Arg908=) c.2714G= (p.Arg905=) c.2642G= (p.Arg881=) c.2519G= (p.Arg840=) c.2147G= (p.Arg716=) c.1937G= (p.Arg646=) c.1934G= (p.Arg645=) c.2252G= (p.Arg751=) | |
2 | g.24824457C>G | CA346063649 | ADCY3 | c.2660G>C (p.Arg887Pro) c.2657G>C (p.Arg886Pro) c.1598G>C (p.Arg533Pro) c.2726G>C (p.Arg909Pro) c.2783G>C (p.Arg928Pro) c.2780G>C (p.Arg927Pro) c.2717G>C (p.Arg906Pro) c.2645G>C (p.Arg882Pro) c.2585G>C (p.Arg862Pro) c.2117G>C (p.Arg706Pro) c.2060G>C (p.Arg687Pro) c.2723G>C (p.Arg908Pro) c.2714G>C (p.Arg905Pro) c.2642G>C (p.Arg881Pro) c.2519G>C (p.Arg840Pro) c.2147G>C (p.Arg716Pro) c.1937G>C (p.Arg646Pro) c.1934G>C (p.Arg645Pro) c.2252G>C (p.Arg751Pro) | |
2 | g.24824457C>T | CA346063650 | ADCY3 | c.2660G>A (p.Arg887His) c.2657G>A (p.Arg886His) c.1598G>A (p.Arg533His) c.2726G>A (p.Arg909His) c.2783G>A (p.Arg928His) c.2780G>A (p.Arg927His) c.2717G>A (p.Arg906His) c.2645G>A (p.Arg882His) c.2585G>A (p.Arg862His) c.2117G>A (p.Arg706His) c.2060G>A (p.Arg687His) c.2723G>A (p.Arg908His) c.2714G>A (p.Arg905His) c.2642G>A (p.Arg881His) c.2519G>A (p.Arg840His) c.2147G>A (p.Arg716His) c.1937G>A (p.Arg646His) c.1934G>A (p.Arg645His) c.2252G>A (p.Arg751His) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.24824458G>A | CA1553651 | ADCY3 | c.2659C>T (p.Arg887Cys) c.2656C>T (p.Arg886Cys) c.1597C>T (p.Arg533Cys) c.2725C>T (p.Arg909Cys) c.2782C>T (p.Arg928Cys) c.2779C>T (p.Arg927Cys) c.2716C>T (p.Arg906Cys) c.2644C>T (p.Arg882Cys) c.2584C>T (p.Arg862Cys) c.2116C>T (p.Arg706Cys) c.2059C>T (p.Arg687Cys) c.2722C>T (p.Arg908Cys) c.2713C>T (p.Arg905Cys) c.2641C>T (p.Arg881Cys) c.2518C>T (p.Arg840Cys) c.2146C>T (p.Arg716Cys) c.1936C>T (p.Arg646Cys) c.1933C>T (p.Arg645Cys) c.2251C>T (p.Arg751Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.24824458G>C | CA346063652 | ADCY3 | c.2659C>G (p.Arg887Gly) c.2656C>G (p.Arg886Gly) c.1597C>G (p.Arg533Gly) c.2725C>G (p.Arg909Gly) c.2782C>G (p.Arg928Gly) c.2779C>G (p.Arg927Gly) c.2716C>G (p.Arg906Gly) c.2644C>G (p.Arg882Gly) c.2584C>G (p.Arg862Gly) c.2116C>G (p.Arg706Gly) c.2059C>G (p.Arg687Gly) c.2722C>G (p.Arg908Gly) c.2713C>G (p.Arg905Gly) c.2641C>G (p.Arg881Gly) c.2518C>G (p.Arg840Gly) c.2146C>G (p.Arg716Gly) c.1936C>G (p.Arg646Gly) c.1933C>G (p.Arg645Gly) c.2251C>G (p.Arg751Gly) | |
2 | g.24824458G= | CA1239072930 | ADCY3 | c.2659C= (p.Arg887=) c.2656C= (p.Arg886=) c.1597C= (p.Arg533=) c.2725C= (p.Arg909=) c.2782C= (p.Arg928=) c.2779C= (p.Arg927=) c.2716C= (p.Arg906=) c.2644C= (p.Arg882=) c.2584C= (p.Arg862=) c.2116C= (p.Arg706=) c.2059C= (p.Arg687=) c.2722C= (p.Arg908=) c.2713C= (p.Arg905=) c.2641C= (p.Arg881=) c.2518C= (p.Arg840=) c.2146C= (p.Arg716=) c.1936C= (p.Arg646=) c.1933C= (p.Arg645=) c.2251C= (p.Arg751=) | |
2 | g.24824458G>T | CA346063654 | ADCY3 | c.2659C>A (p.Arg887Ser) c.2656C>A (p.Arg886Ser) c.1597C>A (p.Arg533Ser) c.2725C>A (p.Arg909Ser) c.2782C>A (p.Arg928Ser) c.2779C>A (p.Arg927Ser) c.2716C>A (p.Arg906Ser) c.2644C>A (p.Arg882Ser) c.2584C>A (p.Arg862Ser) c.2116C>A (p.Arg706Ser) c.2059C>A (p.Arg687Ser) c.2722C>A (p.Arg908Ser) c.2713C>A (p.Arg905Ser) c.2641C>A (p.Arg881Ser) c.2518C>A (p.Arg840Ser) c.2146C>A (p.Arg716Ser) c.1936C>A (p.Arg646Ser) c.1933C>A (p.Arg645Ser) c.2251C>A (p.Arg751Ser) | |
2 | g.24824459T>A | CA425172184 | ADCY3 | c.2658A>T (p.Arg886=) c.2655A>T (p.Arg885=) c.1596A>T (p.Arg532=) c.2724A>T (p.Arg908=) c.2781A>T (p.Arg927=) c.2778A>T (p.Arg926=) c.2715A>T (p.Arg905=) c.2643A>T (p.Arg881=) c.2583A>T (p.Arg861=) c.2115A>T (p.Arg705=) c.2058A>T (p.Arg686=) c.2721A>T (p.Arg907=) c.2712A>T (p.Arg904=) c.2640A>T (p.Arg880=) c.2517A>T (p.Arg839=) c.2145A>T (p.Arg715=) c.1935A>T (p.Arg645=) c.1932A>T (p.Arg644=) c.2250A>T (p.Arg750=) | |
2 | g.24824459T>C | CA425172186 | ADCY3 | c.2658A>G (p.Arg886=) c.2655A>G (p.Arg885=) c.1596A>G (p.Arg532=) c.2724A>G (p.Arg908=) c.2781A>G (p.Arg927=) c.2778A>G (p.Arg926=) c.2715A>G (p.Arg905=) c.2643A>G (p.Arg881=) c.2583A>G (p.Arg861=) c.2115A>G (p.Arg705=) c.2058A>G (p.Arg686=) c.2721A>G (p.Arg907=) c.2712A>G (p.Arg904=) c.2640A>G (p.Arg880=) c.2517A>G (p.Arg839=) c.2145A>G (p.Arg715=) c.1935A>G (p.Arg645=) c.1932A>G (p.Arg644=) c.2250A>G (p.Arg750=) | |
2 | g.24824459T>G | CA425172185 | ADCY3 | c.2658A>C (p.Arg886=) c.2655A>C (p.Arg885=) c.1596A>C (p.Arg532=) c.2724A>C (p.Arg908=) c.2781A>C (p.Arg927=) c.2778A>C (p.Arg926=) c.2715A>C (p.Arg905=) c.2643A>C (p.Arg881=) c.2583A>C (p.Arg861=) c.2115A>C (p.Arg705=) c.2058A>C (p.Arg686=) c.2721A>C (p.Arg907=) c.2712A>C (p.Arg904=) c.2640A>C (p.Arg880=) c.2517A>C (p.Arg839=) c.2145A>C (p.Arg715=) c.1935A>C (p.Arg645=) c.1932A>C (p.Arg644=) c.2250A>C (p.Arg750=) |