Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.123291268G>ACA2576835ADCY5c.1849C>T (p.Arg617Cys)
c.2137C>T (p.Arg713Cys)
n.1575C>T
c.3247C>T (p.Arg1083Cys)
c.3172C>T (p.Arg1058Cys)
c.2122C>T (p.Arg708Cys)
c.2146C>T (p.Arg716Cys)
c.2197C>T (p.Arg733Cys)
c.1924C>T (p.Arg642Cys)
c.2248C>T (p.Arg750Cys)
c.2158C>T (p.Arg720Cys)
c.2149C>T (p.Arg717Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
3g.123291268G>CCA354223667ADCY5c.1849C>G (p.Arg617Gly)
c.2137C>G (p.Arg713Gly)
n.1575C>G
c.3247C>G (p.Arg1083Gly)
c.3172C>G (p.Arg1058Gly)
c.2122C>G (p.Arg708Gly)
c.2146C>G (p.Arg716Gly)
c.2197C>G (p.Arg733Gly)
c.1924C>G (p.Arg642Gly)
c.2248C>G (p.Arg750Gly)
c.2158C>G (p.Arg720Gly)
c.2149C>G (p.Arg717Gly)
3g.123291268G=CA1398330416ADCY5c.1849C= (p.Arg617=)
c.2137C= (p.Arg713=)
n.1575C=
c.3247C= (p.Arg1083=)
c.3172C= (p.Arg1058=)
c.2122C= (p.Arg708=)
c.2146C= (p.Arg716=)
c.2197C= (p.Arg733=)
c.1924C= (p.Arg642=)
c.2248C= (p.Arg750=)
c.2158C= (p.Arg720=)
c.2149C= (p.Arg717=)
3g.123291268G>TCA354223666ADCY5c.1849C>A (p.Arg617Ser)
c.2137C>A (p.Arg713Ser)
n.1575C>A
c.3247C>A (p.Arg1083Ser)
c.3172C>A (p.Arg1058Ser)
c.2122C>A (p.Arg708Ser)
c.2146C>A (p.Arg716Ser)
c.2197C>A (p.Arg733Ser)
c.1924C>A (p.Arg642Ser)
c.2248C>A (p.Arg750Ser)
c.2158C>A (p.Arg720Ser)
c.2149C>A (p.Arg717Ser)
3g.123291269C>ACA435431253ADCY5c.1848G>T (p.Arg616=)
c.2136G>T (p.Arg712=)
n.1574G>T
c.3246G>T (p.Arg1082=)
c.3171G>T (p.Arg1057=)
c.2121G>T (p.Arg707=)
c.2145G>T (p.Arg715=)
c.2196G>T (p.Arg732=)
c.1923G>T (p.Arg641=)
c.2247G>T (p.Arg749=)
c.2157G>T (p.Arg719=)
c.2148G>T (p.Arg716=)
dbSNP gnomAD v3 gnomAD v4
3g.123291269C=CA1398330417ADCY5c.1848G= (p.Arg616=)
c.2136G= (p.Arg712=)
n.1574G=
c.3246G= (p.Arg1082=)
c.3171G= (p.Arg1057=)
c.2121G= (p.Arg707=)
c.2145G= (p.Arg715=)
c.2196G= (p.Arg732=)
c.1923G= (p.Arg641=)
c.2247G= (p.Arg749=)
c.2157G= (p.Arg719=)
c.2148G= (p.Arg716=)
3g.123291269C>GCA435431254ADCY5c.1848G>C (p.Arg616=)
c.2136G>C (p.Arg712=)
n.1574G>C
c.3246G>C (p.Arg1082=)
c.3171G>C (p.Arg1057=)
c.2121G>C (p.Arg707=)
c.2145G>C (p.Arg715=)
c.2196G>C (p.Arg732=)
c.1923G>C (p.Arg641=)
c.2247G>C (p.Arg749=)
c.2157G>C (p.Arg719=)
c.2148G>C (p.Arg716=)
3g.123291269C>TCA435431255ADCY5c.1848G>A (p.Arg616=)
c.2136G>A (p.Arg712=)
n.1574G>A
c.3246G>A (p.Arg1082=)
c.3171G>A (p.Arg1057=)
c.2121G>A (p.Arg707=)
c.2145G>A (p.Arg715=)
c.2196G>A (p.Arg732=)
c.1923G>A (p.Arg641=)
c.2247G>A (p.Arg749=)
c.2157G>A (p.Arg719=)
c.2148G>A (p.Arg716=)
3g.123291270C>ACA354223668ADCY5c.1847G>T (p.Arg616Leu)
c.2135G>T (p.Arg712Leu)
n.1573G>T
c.3245G>T (p.Arg1082Leu)
c.3170G>T (p.Arg1057Leu)
c.2120G>T (p.Arg707Leu)
c.2144G>T (p.Arg715Leu)
c.2195G>T (p.Arg732Leu)
c.1922G>T (p.Arg641Leu)
c.2246G>T (p.Arg749Leu)
c.2156G>T (p.Arg719Leu)
c.2147G>T (p.Arg716Leu)
3g.123291270C=CA1398330418ADCY5c.1847G= (p.Arg616=)
c.2135G= (p.Arg712=)
n.1573G=
c.3245G= (p.Arg1082=)
c.3170G= (p.Arg1057=)
c.2120G= (p.Arg707=)
c.2144G= (p.Arg715=)
c.2195G= (p.Arg732=)
c.1922G= (p.Arg641=)
c.2246G= (p.Arg749=)
c.2156G= (p.Arg719=)
c.2147G= (p.Arg716=)
3g.123291270C>GCA354223669ADCY5c.1847G>C (p.Arg616Pro)
c.2135G>C (p.Arg712Pro)
n.1573G>C
c.3245G>C (p.Arg1082Pro)
c.3170G>C (p.Arg1057Pro)
c.2120G>C (p.Arg707Pro)
c.2144G>C (p.Arg715Pro)
c.2195G>C (p.Arg732Pro)
c.1922G>C (p.Arg641Pro)
c.2246G>C (p.Arg749Pro)
c.2156G>C (p.Arg719Pro)
c.2147G>C (p.Arg716Pro)
3g.123291270C>TCA82904077ADCY5c.1847G>A (p.Arg616Gln)
c.2135G>A (p.Arg712Gln)
n.1573G>A
c.3245G>A (p.Arg1082Gln)
c.3170G>A (p.Arg1057Gln)
c.2120G>A (p.Arg707Gln)
c.2144G>A (p.Arg715Gln)
c.2195G>A (p.Arg732Gln)
c.1922G>A (p.Arg641Gln)
c.2246G>A (p.Arg749Gln)
c.2156G>A (p.Arg719Gln)
c.2147G>A (p.Arg716Gln)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.123291271G>ACA2576836ADCY5c.1846C>T (p.Arg616Trp)
c.2134C>T (p.Arg712Trp)
n.1572C>T
c.3244C>T (p.Arg1082Trp)
c.3169C>T (p.Arg1057Trp)
c.2119C>T (p.Arg707Trp)
c.2143C>T (p.Arg715Trp)
c.2194C>T (p.Arg732Trp)
c.1921C>T (p.Arg641Trp)
c.2245C>T (p.Arg749Trp)
c.2155C>T (p.Arg719Trp)
c.2146C>T (p.Arg716Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
3g.123291271G>CCA354223670ADCY5c.1846C>G (p.Arg616Gly)
c.2134C>G (p.Arg712Gly)
n.1572C>G
c.3244C>G (p.Arg1082Gly)
c.3169C>G (p.Arg1057Gly)
c.2119C>G (p.Arg707Gly)
c.2143C>G (p.Arg715Gly)
c.2194C>G (p.Arg732Gly)
c.1921C>G (p.Arg641Gly)
c.2245C>G (p.Arg749Gly)
c.2155C>G (p.Arg719Gly)
c.2146C>G (p.Arg716Gly)
3g.123291271G=CA1398330419ADCY5c.1846C= (p.Arg616=)
c.2134C= (p.Arg712=)
n.1572C=
c.3244C= (p.Arg1082=)
c.3169C= (p.Arg1057=)
c.2119C= (p.Arg707=)
c.2143C= (p.Arg715=)
c.2194C= (p.Arg732=)
c.1921C= (p.Arg641=)
c.2245C= (p.Arg749=)
c.2155C= (p.Arg719=)
c.2146C= (p.Arg716=)
3g.123291271G>TCA435431256ADCY5c.1846C>A (p.Arg616=)
c.2134C>A (p.Arg712=)
n.1572C>A
c.3244C>A (p.Arg1082=)
c.3169C>A (p.Arg1057=)
c.2119C>A (p.Arg707=)
c.2143C>A (p.Arg715=)
c.2194C>A (p.Arg732=)
c.1921C>A (p.Arg641=)
c.2245C>A (p.Arg749=)
c.2155C>A (p.Arg719=)
c.2146C>A (p.Arg716=)
gnomAD v4
3g.123291272C>ACA354223671ADCY5c.1845G>T (p.Glu615Asp)
c.2133G>T (p.Glu711Asp)
n.1571G>T
c.3243G>T (p.Glu1081Asp)
c.3168G>T (p.Glu1056Asp)
c.2118G>T (p.Glu706Asp)
c.2142G>T (p.Glu714Asp)
c.2193G>T (p.Glu731Asp)
c.1920G>T (p.Glu640Asp)
c.2244G>T (p.Glu748Asp)
c.2154G>T (p.Glu718Asp)
c.2145G>T (p.Glu715Asp)
gnomAD v4
3g.123291272C=CA1398330420ADCY5c.1845G= (p.Glu615=)
c.2133G= (p.Glu711=)
n.1571G=
c.3243G= (p.Glu1081=)
c.3168G= (p.Glu1056=)
c.2118G= (p.Glu706=)
c.2142G= (p.Glu714=)
c.2193G= (p.Glu731=)
c.1920G= (p.Glu640=)
c.2244G= (p.Glu748=)
c.2154G= (p.Glu718=)
c.2145G= (p.Glu715=)
3g.123291272C>GCA354223672ADCY5c.1845G>C (p.Glu615Asp)
c.2133G>C (p.Glu711Asp)
n.1571G>C
c.3243G>C (p.Glu1081Asp)
c.3168G>C (p.Glu1056Asp)
c.2118G>C (p.Glu706Asp)
c.2142G>C (p.Glu714Asp)
c.2193G>C (p.Glu731Asp)
c.1920G>C (p.Glu640Asp)
c.2244G>C (p.Glu748Asp)
c.2154G>C (p.Glu718Asp)
c.2145G>C (p.Glu715Asp)
3g.123291272C>TCA82904084ADCY5c.1845G>A (p.Glu615=)
c.2133G>A (p.Glu711=)
n.1571G>A
c.3243G>A (p.Glu1081=)
c.3168G>A (p.Glu1056=)
c.2118G>A (p.Glu706=)
c.2142G>A (p.Glu714=)
c.2193G>A (p.Glu731=)
c.1920G>A (p.Glu640=)
c.2244G>A (p.Glu748=)
c.2154G>A (p.Glu718=)
c.2145G>A (p.Glu715=)
dbSNP gnomAD v4
3g.123291273T>ACA354223673ADCY5c.1844A>T (p.Glu615Val)
c.2132A>T (p.Glu711Val)
n.1570A>T
c.3242A>T (p.Glu1081Val)
c.3167A>T (p.Glu1056Val)
c.2117A>T (p.Glu706Val)
c.2141A>T (p.Glu714Val)
c.2192A>T (p.Glu731Val)
c.1919A>T (p.Glu640Val)
c.2243A>T (p.Glu748Val)
c.2153A>T (p.Glu718Val)
c.2144A>T (p.Glu715Val)
3g.123291273T>CCA354223674ADCY5c.1844A>G (p.Glu615Gly)
c.2132A>G (p.Glu711Gly)
n.1570A>G
c.3242A>G (p.Glu1081Gly)
c.3167A>G (p.Glu1056Gly)
c.2117A>G (p.Glu706Gly)
c.2141A>G (p.Glu714Gly)
c.2192A>G (p.Glu731Gly)
c.1919A>G (p.Glu640Gly)
c.2243A>G (p.Glu748Gly)
c.2153A>G (p.Glu718Gly)
c.2144A>G (p.Glu715Gly)
3g.123291273T>GCA354223675ADCY5c.1844A>C (p.Glu615Ala)
c.2132A>C (p.Glu711Ala)
n.1570A>C
c.3242A>C (p.Glu1081Ala)
c.3167A>C (p.Glu1056Ala)
c.2117A>C (p.Glu706Ala)
c.2141A>C (p.Glu714Ala)
c.2192A>C (p.Glu731Ala)
c.1919A>C (p.Glu640Ala)
c.2243A>C (p.Glu748Ala)
c.2153A>C (p.Glu718Ala)
c.2144A>C (p.Glu715Ala)
3g.123291274C>ACA354223676ADCY5c.1843G>T (p.Glu615Ter)
c.2131G>T (p.Glu711Ter)
n.1569G>T
c.3241G>T (p.Glu1081Ter)
c.3166G>T (p.Glu1056Ter)
c.2116G>T (p.Glu706Ter)
c.2140G>T (p.Glu714Ter)
c.2191G>T (p.Glu731Ter)
c.1918G>T (p.Glu640Ter)
c.2242G>T (p.Glu748Ter)
c.2152G>T (p.Glu718Ter)
c.2143G>T (p.Glu715Ter)
dbSNP gnomAD v4
3g.123291274C=CA1398330421ADCY5c.1843G= (p.Glu615=)
c.2131G= (p.Glu711=)
n.1569G=
c.3241G= (p.Glu1081=)
c.3166G= (p.Glu1056=)
c.2116G= (p.Glu706=)
c.2140G= (p.Glu714=)
c.2191G= (p.Glu731=)
c.1918G= (p.Glu640=)
c.2242G= (p.Glu748=)
c.2152G= (p.Glu718=)
c.2143G= (p.Glu715=)
3g.123291274C>GCA354223677ADCY5c.1843G>C (p.Glu615Gln)
c.2131G>C (p.Glu711Gln)
n.1569G>C
c.3241G>C (p.Glu1081Gln)
c.3166G>C (p.Glu1056Gln)
c.2116G>C (p.Glu706Gln)
c.2140G>C (p.Glu714Gln)
c.2191G>C (p.Glu731Gln)
c.1918G>C (p.Glu640Gln)
c.2242G>C (p.Glu748Gln)
c.2152G>C (p.Glu718Gln)
c.2143G>C (p.Glu715Gln)
3g.123291274C>TCA354223678ADCY5c.1843G>A (p.Glu615Lys)
c.2131G>A (p.Glu711Lys)
n.1569G>A
c.3241G>A (p.Glu1081Lys)
c.3166G>A (p.Glu1056Lys)
c.2116G>A (p.Glu706Lys)
c.2140G>A (p.Glu714Lys)
c.2191G>A (p.Glu731Lys)
c.1918G>A (p.Glu640Lys)
c.2242G>A (p.Glu748Lys)
c.2152G>A (p.Glu718Lys)
c.2143G>A (p.Glu715Lys)
dbSNP gnomAD v2 gnomAD v4 COSMIC
3g.123291275G>ACA2576837ADCY5c.1842C>T (p.Arg614=)
c.2130C>T (p.Arg710=)
n.1568C>T
c.3240C>T (p.Arg1080=)
c.3165C>T (p.Arg1055=)
c.2115C>T (p.Arg705=)
c.2139C>T (p.Arg713=)
c.2190C>T (p.Arg730=)
c.1917C>T (p.Arg639=)
c.2241C>T (p.Arg747=)
c.2151C>T (p.Arg717=)
c.2142C>T (p.Arg714=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.123291275G>CCA435431258ADCY5c.1842C>G (p.Arg614=)
c.2130C>G (p.Arg710=)
n.1568C>G
c.3240C>G (p.Arg1080=)
c.3165C>G (p.Arg1055=)
c.2115C>G (p.Arg705=)
c.2139C>G (p.Arg713=)
c.2190C>G (p.Arg730=)
c.1917C>G (p.Arg639=)
c.2241C>G (p.Arg747=)
c.2151C>G (p.Arg717=)
c.2142C>G (p.Arg714=)
3g.123291275G=CA1398330422ADCY5c.1842C= (p.Arg614=)
c.2130C= (p.Arg710=)
n.1568C=
c.3240C= (p.Arg1080=)
c.3165C= (p.Arg1055=)
c.2115C= (p.Arg705=)
c.2139C= (p.Arg713=)
c.2190C= (p.Arg730=)
c.1917C= (p.Arg639=)
c.2241C= (p.Arg747=)
c.2151C= (p.Arg717=)
c.2142C= (p.Arg714=)
3g.123291275G>TCA435431257ADCY5c.1842C>A (p.Arg614=)
c.2130C>A (p.Arg710=)
n.1568C>A
c.3240C>A (p.Arg1080=)
c.3165C>A (p.Arg1055=)
c.2115C>A (p.Arg705=)
c.2139C>A (p.Arg713=)
c.2190C>A (p.Arg730=)
c.1917C>A (p.Arg639=)
c.2241C>A (p.Arg747=)
c.2151C>A (p.Arg717=)
c.2142C>A (p.Arg714=)
3g.123291276delCA2703963957ADCY5c.1841del (p.Arg614ProfsTer?)
c.2129del (p.Arg710ProfsTer?)
n.1567del
c.3239del (p.Arg1080ProfsTer?)
c.3164del (p.Arg1055ProfsTer?)
c.2114del (p.Arg705ProfsTer?)
c.2138del (p.Arg713ProfsTer?)
c.2189del (p.Arg730ProfsTer?)
c.1916del (p.Arg639ProfsTer?)
c.2240del (p.Arg747ProfsTer?)
c.2150del (p.Arg717ProfsTer?)
c.2141del (p.Arg714ProfsTer?)
dbSNP
3g.123291276C>ACA354223680ADCY5c.1841G>T (p.Arg614Leu)
c.2129G>T (p.Arg710Leu)
n.1567G>T
c.3239G>T (p.Arg1080Leu)
c.3164G>T (p.Arg1055Leu)
c.2114G>T (p.Arg705Leu)
c.2138G>T (p.Arg713Leu)
c.2189G>T (p.Arg730Leu)
c.1916G>T (p.Arg639Leu)
c.2240G>T (p.Arg747Leu)
c.2150G>T (p.Arg717Leu)
c.2141G>T (p.Arg714Leu)
gnomAD v4
3g.123291276C=CA1398330423ADCY5c.1841G= (p.Arg614=)
c.2129G= (p.Arg710=)
n.1567G=
c.3239G= (p.Arg1080=)
c.3164G= (p.Arg1055=)
c.2114G= (p.Arg705=)
c.2138G= (p.Arg713=)
c.2189G= (p.Arg730=)
c.1916G= (p.Arg639=)
c.2240G= (p.Arg747=)
c.2150G= (p.Arg717=)
c.2141G= (p.Arg714=)
3g.123291276C>GCA354223679ADCY5c.1841G>C (p.Arg614Pro)
c.2129G>C (p.Arg710Pro)
n.1567G>C
c.3239G>C (p.Arg1080Pro)
c.3164G>C (p.Arg1055Pro)
c.2114G>C (p.Arg705Pro)
c.2138G>C (p.Arg713Pro)
c.2189G>C (p.Arg730Pro)
c.1916G>C (p.Arg639Pro)
c.2240G>C (p.Arg747Pro)
c.2150G>C (p.Arg717Pro)
c.2141G>C (p.Arg714Pro)
3g.123291276C>TCA2576838ADCY5c.1841G>A (p.Arg614His)
c.2129G>A (p.Arg710His)
n.1567G>A
c.3239G>A (p.Arg1080His)
c.3164G>A (p.Arg1055His)
c.2114G>A (p.Arg705His)
c.2138G>A (p.Arg713His)
c.2189G>A (p.Arg730His)
c.1916G>A (p.Arg639His)
c.2240G>A (p.Arg747His)
c.2150G>A (p.Arg717His)
c.2141G>A (p.Arg714His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.123291277G>ACA2576839ADCY5c.1840C>T (p.Arg614Cys)
c.2128C>T (p.Arg710Cys)
n.1566C>T
c.3238C>T (p.Arg1080Cys)
c.3163C>T (p.Arg1055Cys)
c.2113C>T (p.Arg705Cys)
c.2137C>T (p.Arg713Cys)
c.2188C>T (p.Arg730Cys)
c.1915C>T (p.Arg639Cys)
c.2239C>T (p.Arg747Cys)
c.2149C>T (p.Arg717Cys)
c.2140C>T (p.Arg714Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.123291277G>CCA354223681ADCY5c.1840C>G (p.Arg614Gly)
c.2128C>G (p.Arg710Gly)
n.1566C>G
c.3238C>G (p.Arg1080Gly)
c.3163C>G (p.Arg1055Gly)
c.2113C>G (p.Arg705Gly)
c.2137C>G (p.Arg713Gly)
c.2188C>G (p.Arg730Gly)
c.1915C>G (p.Arg639Gly)
c.2239C>G (p.Arg747Gly)
c.2149C>G (p.Arg717Gly)
c.2140C>G (p.Arg714Gly)
3g.123291277G=CA1398330424ADCY5c.1840C= (p.Arg614=)
c.2128C= (p.Arg710=)
n.1566C=
c.3238C= (p.Arg1080=)
c.3163C= (p.Arg1055=)
c.2113C= (p.Arg705=)
c.2137C= (p.Arg713=)
c.2188C= (p.Arg730=)
c.1915C= (p.Arg639=)
c.2239C= (p.Arg747=)
c.2149C= (p.Arg717=)
c.2140C= (p.Arg714=)
3g.123291277G>TCA2576840ADCY5c.1840C>A (p.Arg614Ser)
c.2128C>A (p.Arg710Ser)
n.1566C>A
c.3238C>A (p.Arg1080Ser)
c.3163C>A (p.Arg1055Ser)
c.2113C>A (p.Arg705Ser)
c.2137C>A (p.Arg713Ser)
c.2188C>A (p.Arg730Ser)
c.1915C>A (p.Arg639Ser)
c.2239C>A (p.Arg747Ser)
c.2149C>A (p.Arg717Ser)
c.2140C>A (p.Arg714Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.123291278G>ACA435431259ADCY5c.1839C>T (p.Ala613=)
c.2127C>T (p.Ala709=)
n.1565C>T
c.3237C>T (p.Ala1079=)
c.3162C>T (p.Ala1054=)
c.2112C>T (p.Ala704=)
c.2136C>T (p.Ala712=)
c.2187C>T (p.Ala729=)
c.1914C>T (p.Ala638=)
c.2238C>T (p.Ala746=)
c.2148C>T (p.Ala716=)
c.2139C>T (p.Ala713=)
gnomAD v4
3g.123291278G>CCA435431260ADCY5c.1839C>G (p.Ala613=)
c.2127C>G (p.Ala709=)
n.1565C>G
c.3237C>G (p.Ala1079=)
c.3162C>G (p.Ala1054=)
c.2112C>G (p.Ala704=)
c.2136C>G (p.Ala712=)
c.2187C>G (p.Ala729=)
c.1914C>G (p.Ala638=)
c.2238C>G (p.Ala746=)
c.2148C>G (p.Ala716=)
c.2139C>G (p.Ala713=)
3g.123291278G>TCA435431261ADCY5c.1839C>A (p.Ala613=)
c.2127C>A (p.Ala709=)
n.1565C>A
c.3237C>A (p.Ala1079=)
c.3162C>A (p.Ala1054=)
c.2112C>A (p.Ala704=)
c.2136C>A (p.Ala712=)
c.2187C>A (p.Ala729=)
c.1914C>A (p.Ala638=)
c.2238C>A (p.Ala746=)
c.2148C>A (p.Ala716=)
c.2139C>A (p.Ala713=)
3g.123291279G>ACA354223682ADCY5c.1838C>T (p.Ala613Val)
c.2126C>T (p.Ala709Val)
n.1564C>T
c.3236C>T (p.Ala1079Val)
c.3161C>T (p.Ala1054Val)
c.2111C>T (p.Ala704Val)
c.2135C>T (p.Ala712Val)
c.2186C>T (p.Ala729Val)
c.1913C>T (p.Ala638Val)
c.2237C>T (p.Ala746Val)
c.2147C>T (p.Ala716Val)
c.2138C>T (p.Ala713Val)
gnomAD v4
3g.123291279G>CCA354223683ADCY5c.1838C>G (p.Ala613Gly)
c.2126C>G (p.Ala709Gly)
n.1564C>G
c.3236C>G (p.Ala1079Gly)
c.3161C>G (p.Ala1054Gly)
c.2111C>G (p.Ala704Gly)
c.2135C>G (p.Ala712Gly)
c.2186C>G (p.Ala729Gly)
c.1913C>G (p.Ala638Gly)
c.2237C>G (p.Ala746Gly)
c.2147C>G (p.Ala716Gly)
c.2138C>G (p.Ala713Gly)
3g.123291279G>TCA354223684ADCY5c.1838C>A (p.Ala613Asp)
c.2126C>A (p.Ala709Asp)
n.1564C>A
c.3236C>A (p.Ala1079Asp)
c.3161C>A (p.Ala1054Asp)
c.2111C>A (p.Ala704Asp)
c.2135C>A (p.Ala712Asp)
c.2186C>A (p.Ala729Asp)
c.1913C>A (p.Ala638Asp)
c.2237C>A (p.Ala746Asp)
c.2147C>A (p.Ala716Asp)
c.2138C>A (p.Ala713Asp)
3g.123291280C>ACA354223685ADCY5c.1837G>T (p.Ala613Ser)
c.2125G>T (p.Ala709Ser)
n.1563G>T
c.3235G>T (p.Ala1079Ser)
c.3160G>T (p.Ala1054Ser)
c.2110G>T (p.Ala704Ser)
c.2134G>T (p.Ala712Ser)
c.2185G>T (p.Ala729Ser)
c.1912G>T (p.Ala638Ser)
c.2236G>T (p.Ala746Ser)
c.2146G>T (p.Ala716Ser)
c.2137G>T (p.Ala713Ser)
3g.123291280C>GCA354223686ADCY5c.1837G>C (p.Ala613Pro)
c.2125G>C (p.Ala709Pro)
n.1563G>C
c.3235G>C (p.Ala1079Pro)
c.3160G>C (p.Ala1054Pro)
c.2110G>C (p.Ala704Pro)
c.2134G>C (p.Ala712Pro)
c.2185G>C (p.Ala729Pro)
c.1912G>C (p.Ala638Pro)
c.2236G>C (p.Ala746Pro)
c.2146G>C (p.Ala716Pro)
c.2137G>C (p.Ala713Pro)
3g.123291280C>TCA354223687ADCY5c.1837G>A (p.Ala613Thr)
c.2125G>A (p.Ala709Thr)
n.1563G>A
c.3235G>A (p.Ala1079Thr)
c.3160G>A (p.Ala1054Thr)
c.2110G>A (p.Ala704Thr)
c.2134G>A (p.Ala712Thr)
c.2185G>A (p.Ala729Thr)
c.1912G>A (p.Ala638Thr)
c.2236G>A (p.Ala746Thr)
c.2146G>A (p.Ala716Thr)
c.2137G>A (p.Ala713Thr)
COSMIC
3g.123291281C>ACA435431262ADCY5c.1836G>T (p.Leu612=)
c.2124G>T (p.Leu708=)
n.1562G>T
c.3234G>T (p.Leu1078=)
c.3159G>T (p.Leu1053=)
c.2109G>T (p.Leu703=)
c.2133G>T (p.Leu711=)
c.2184G>T (p.Leu728=)
c.1911G>T (p.Leu637=)
c.2235G>T (p.Leu745=)
c.2145G>T (p.Leu715=)
c.2136G>T (p.Leu712=)
3g.123291281C=CA1398330425ADCY5c.1836G= (p.Leu612=)
c.2124G= (p.Leu708=)
n.1562G=
c.3234G= (p.Leu1078=)
c.3159G= (p.Leu1053=)
c.2109G= (p.Leu703=)
c.2133G= (p.Leu711=)
c.2184G= (p.Leu728=)
c.1911G= (p.Leu637=)
c.2235G= (p.Leu745=)
c.2145G= (p.Leu715=)
c.2136G= (p.Leu712=)
3g.123291281C>GCA2576841ADCY5c.1836G>C (p.Leu612=)
c.2124G>C (p.Leu708=)
n.1562G>C
c.3234G>C (p.Leu1078=)
c.3159G>C (p.Leu1053=)
c.2109G>C (p.Leu703=)
c.2133G>C (p.Leu711=)
c.2184G>C (p.Leu728=)
c.1911G>C (p.Leu637=)
c.2235G>C (p.Leu745=)
c.2145G>C (p.Leu715=)
c.2136G>C (p.Leu712=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.123291281C>TCA435431263ADCY5c.1836G>A (p.Leu612=)
c.2124G>A (p.Leu708=)
n.1562G>A
c.3234G>A (p.Leu1078=)
c.3159G>A (p.Leu1053=)
c.2109G>A (p.Leu703=)
c.2133G>A (p.Leu711=)
c.2184G>A (p.Leu728=)
c.1911G>A (p.Leu637=)
c.2235G>A (p.Leu745=)
c.2145G>A (p.Leu715=)
c.2136G>A (p.Leu712=)
3g.123291282A>CCA354223690ADCY5c.1835T>G (p.Leu612Arg)
c.2123T>G (p.Leu708Arg)
n.1561T>G
c.3233T>G (p.Leu1078Arg)
c.3158T>G (p.Leu1053Arg)
c.2108T>G (p.Leu703Arg)
c.2132T>G (p.Leu711Arg)
c.2183T>G (p.Leu728Arg)
c.1910T>G (p.Leu637Arg)
c.2234T>G (p.Leu745Arg)
c.2144T>G (p.Leu715Arg)
c.2135T>G (p.Leu712Arg)
3g.123291282A>GCA354223689ADCY5c.1835T>C (p.Leu612Pro)
c.2123T>C (p.Leu708Pro)
n.1561T>C
c.3233T>C (p.Leu1078Pro)
c.3158T>C (p.Leu1053Pro)
c.2108T>C (p.Leu703Pro)
c.2132T>C (p.Leu711Pro)
c.2183T>C (p.Leu728Pro)
c.1910T>C (p.Leu637Pro)
c.2234T>C (p.Leu745Pro)
c.2144T>C (p.Leu715Pro)
c.2135T>C (p.Leu712Pro)
gnomAD v4
3g.123291282A>TCA354223688ADCY5c.1835T>A (p.Leu612Gln)
c.2123T>A (p.Leu708Gln)
n.1561T>A
c.3233T>A (p.Leu1078Gln)
c.3158T>A (p.Leu1053Gln)
c.2108T>A (p.Leu703Gln)
c.2132T>A (p.Leu711Gln)
c.2183T>A (p.Leu728Gln)
c.1910T>A (p.Leu637Gln)
c.2234T>A (p.Leu745Gln)
c.2144T>A (p.Leu715Gln)
c.2135T>A (p.Leu712Gln)
3g.123291283G>ACA435431264ADCY5c.1834C>T (p.Leu612=)
c.2122C>T (p.Leu708=)
n.1560C>T
c.3232C>T (p.Leu1078=)
c.3157C>T (p.Leu1053=)
c.2107C>T (p.Leu703=)
c.2131C>T (p.Leu711=)
c.2182C>T (p.Leu728=)
c.1909C>T (p.Leu637=)
c.2233C>T (p.Leu745=)
c.2143C>T (p.Leu715=)
c.2134C>T (p.Leu712=)
3g.123291283G>CCA354223691ADCY5c.1834C>G (p.Leu612Val)
c.2122C>G (p.Leu708Val)
n.1560C>G
c.3232C>G (p.Leu1078Val)
c.3157C>G (p.Leu1053Val)
c.2107C>G (p.Leu703Val)
c.2131C>G (p.Leu711Val)
c.2182C>G (p.Leu728Val)
c.1909C>G (p.Leu637Val)
c.2233C>G (p.Leu745Val)
c.2143C>G (p.Leu715Val)
c.2134C>G (p.Leu712Val)
3g.123291283G>TCA354223692ADCY5c.1834C>A (p.Leu612Met)
c.2122C>A (p.Leu708Met)
n.1560C>A
c.3232C>A (p.Leu1078Met)
c.3157C>A (p.Leu1053Met)
c.2107C>A (p.Leu703Met)
c.2131C>A (p.Leu711Met)
c.2182C>A (p.Leu728Met)
c.1909C>A (p.Leu637Met)
c.2233C>A (p.Leu745Met)
c.2143C>A (p.Leu715Met)
c.2134C>A (p.Leu712Met)
3g.123291284delCA2667290335ADCY5c.1834del (p.Leu612TrpfsTer?)
c.2122del (p.Leu708TrpfsTer?)
n.1560del
c.3232del (p.Leu1078TrpfsTer?)
c.3157del (p.Leu1053TrpfsTer?)
c.2107del (p.Leu703TrpfsTer?)
c.2131del (p.Leu711TrpfsTer?)
c.2182del (p.Leu728TrpfsTer?)
c.1909del (p.Leu637TrpfsTer?)
c.2233del (p.Leu745TrpfsTer?)
c.2143del (p.Leu715TrpfsTer?)
c.2134del (p.Leu712TrpfsTer?)
gnomAD v4
3g.123291284G>ACA435431265ADCY5c.1833C>T (p.Phe611=)
c.2121C>T (p.Phe707=)
n.1559C>T
c.3231C>T (p.Phe1077=)
c.3156C>T (p.Phe1052=)
c.2106C>T (p.Phe702=)
c.2130C>T (p.Phe710=)
c.2181C>T (p.Phe727=)
c.1908C>T (p.Phe636=)
c.2232C>T (p.Phe744=)
c.2142C>T (p.Phe714=)
c.2133C>T (p.Phe711=)
COSMIC
3g.123291284G>CCA354223693ADCY5c.1833C>G (p.Phe611Leu)
c.2121C>G (p.Phe707Leu)
n.1559C>G
c.3231C>G (p.Phe1077Leu)
c.3156C>G (p.Phe1052Leu)
c.2106C>G (p.Phe702Leu)
c.2130C>G (p.Phe710Leu)
c.2181C>G (p.Phe727Leu)
c.1908C>G (p.Phe636Leu)
c.2232C>G (p.Phe744Leu)
c.2142C>G (p.Phe714Leu)
c.2133C>G (p.Phe711Leu)
3g.123291284G>TCA354223694ADCY5c.1833C>A (p.Phe611Leu)
c.2121C>A (p.Phe707Leu)
n.1559C>A
c.3231C>A (p.Phe1077Leu)
c.3156C>A (p.Phe1052Leu)
c.2106C>A (p.Phe702Leu)
c.2130C>A (p.Phe710Leu)
c.2181C>A (p.Phe727Leu)
c.1908C>A (p.Phe636Leu)
c.2232C>A (p.Phe744Leu)
c.2142C>A (p.Phe714Leu)
c.2133C>A (p.Phe711Leu)
3g.123291285A>CCA354223695ADCY5c.1832T>G (p.Phe611Cys)
c.2120T>G (p.Phe707Cys)
n.1558T>G
c.3230T>G (p.Phe1077Cys)
c.3155T>G (p.Phe1052Cys)
c.2105T>G (p.Phe702Cys)
c.2129T>G (p.Phe710Cys)
c.2180T>G (p.Phe727Cys)
c.1907T>G (p.Phe636Cys)
c.2231T>G (p.Phe744Cys)
c.2141T>G (p.Phe714Cys)
c.2132T>G (p.Phe711Cys)
3g.123291285A>GCA354223696ADCY5c.1832T>C (p.Phe611Ser)
c.2120T>C (p.Phe707Ser)
n.1558T>C
c.3230T>C (p.Phe1077Ser)
c.3155T>C (p.Phe1052Ser)
c.2105T>C (p.Phe702Ser)
c.2129T>C (p.Phe710Ser)
c.2180T>C (p.Phe727Ser)
c.1907T>C (p.Phe636Ser)
c.2231T>C (p.Phe744Ser)
c.2141T>C (p.Phe714Ser)
c.2132T>C (p.Phe711Ser)
3g.123291285A>TCA354223697ADCY5c.1832T>A (p.Phe611Tyr)
c.2120T>A (p.Phe707Tyr)
n.1558T>A
c.3230T>A (p.Phe1077Tyr)
c.3155T>A (p.Phe1052Tyr)
c.2105T>A (p.Phe702Tyr)
c.2129T>A (p.Phe710Tyr)
c.2180T>A (p.Phe727Tyr)
c.1907T>A (p.Phe636Tyr)
c.2231T>A (p.Phe744Tyr)
c.2141T>A (p.Phe714Tyr)
c.2132T>A (p.Phe711Tyr)
3g.123291286A>CCA354223698ADCY5c.1831T>G (p.Phe611Val)
c.2119T>G (p.Phe707Val)
n.1557T>G
c.3229T>G (p.Phe1077Val)
c.3154T>G (p.Phe1052Val)
c.2104T>G (p.Phe702Val)
c.2128T>G (p.Phe710Val)
c.2179T>G (p.Phe727Val)
c.1906T>G (p.Phe636Val)
c.2230T>G (p.Phe744Val)
c.2140T>G (p.Phe714Val)
c.2131T>G (p.Phe711Val)
3g.123291286A>GCA354223699ADCY5c.1831T>C (p.Phe611Leu)
c.2119T>C (p.Phe707Leu)
n.1557T>C
c.3229T>C (p.Phe1077Leu)
c.3154T>C (p.Phe1052Leu)
c.2104T>C (p.Phe702Leu)
c.2128T>C (p.Phe710Leu)
c.2179T>C (p.Phe727Leu)
c.1906T>C (p.Phe636Leu)
c.2230T>C (p.Phe744Leu)
c.2140T>C (p.Phe714Leu)
c.2131T>C (p.Phe711Leu)
3g.123291286A>TCA354223700ADCY5c.1831T>A (p.Phe611Ile)
c.2119T>A (p.Phe707Ile)
n.1557T>A
c.3229T>A (p.Phe1077Ile)
c.3154T>A (p.Phe1052Ile)
c.2104T>A (p.Phe702Ile)
c.2128T>A (p.Phe710Ile)
c.2179T>A (p.Phe727Ile)
c.1906T>A (p.Phe636Ile)
c.2230T>A (p.Phe744Ile)
c.2140T>A (p.Phe714Ile)
c.2131T>A (p.Phe711Ile)
3g.123291287G>ACA435431266ADCY5c.1830C>T (p.His610=)
c.2118C>T (p.His706=)
n.1556C>T
c.3228C>T (p.His1076=)
c.3153C>T (p.His1051=)
c.2103C>T (p.His701=)
c.2127C>T (p.His709=)
c.2178C>T (p.His726=)
c.1905C>T (p.His635=)
c.2229C>T (p.His743=)
c.2139C>T (p.His713=)
c.2130C>T (p.His710=)
dbSNP gnomAD v2 gnomAD v4
3g.123291287G>CCA354223701ADCY5c.1830C>G (p.His610Gln)
c.2118C>G (p.His706Gln)
n.1556C>G
c.3228C>G (p.His1076Gln)
c.3153C>G (p.His1051Gln)
c.2103C>G (p.His701Gln)
c.2127C>G (p.His709Gln)
c.2178C>G (p.His726Gln)
c.1905C>G (p.His635Gln)
c.2229C>G (p.His743Gln)
c.2139C>G (p.His713Gln)
c.2130C>G (p.His710Gln)
3g.123291287G=CA1398330426ADCY5c.1830C= (p.His610=)
c.2118C= (p.His706=)
n.1556C=
c.3228C= (p.His1076=)
c.3153C= (p.His1051=)
c.2103C= (p.His701=)
c.2127C= (p.His709=)
c.2178C= (p.His726=)
c.1905C= (p.His635=)
c.2229C= (p.His743=)
c.2139C= (p.His713=)
c.2130C= (p.His710=)
3g.123291287G>TCA354223702ADCY5c.1830C>A (p.His610Gln)
c.2118C>A (p.His706Gln)
n.1556C>A
c.3228C>A (p.His1076Gln)
c.3153C>A (p.His1051Gln)
c.2103C>A (p.His701Gln)
c.2127C>A (p.His709Gln)
c.2178C>A (p.His726Gln)
c.1905C>A (p.His635Gln)
c.2229C>A (p.His743Gln)
c.2139C>A (p.His713Gln)
c.2130C>A (p.His710Gln)
3g.123291288T>ACA354223705ADCY5c.1829A>T (p.His610Leu)
c.2117A>T (p.His706Leu)
n.1555A>T
c.3227A>T (p.His1076Leu)
c.3152A>T (p.His1051Leu)
c.2102A>T (p.His701Leu)
c.2126A>T (p.His709Leu)
c.2177A>T (p.His726Leu)
c.1904A>T (p.His635Leu)
c.2228A>T (p.His743Leu)
c.2138A>T (p.His713Leu)
c.2129A>T (p.His710Leu)
3g.123291288T>CCA354223704ADCY5c.1829A>G (p.His610Arg)
c.2117A>G (p.His706Arg)
n.1555A>G
c.3227A>G (p.His1076Arg)
c.3152A>G (p.His1051Arg)
c.2102A>G (p.His701Arg)
c.2126A>G (p.His709Arg)
c.2177A>G (p.His726Arg)
c.1904A>G (p.His635Arg)
c.2228A>G (p.His743Arg)
c.2138A>G (p.His713Arg)
c.2129A>G (p.His710Arg)
3g.123291288T>GCA354223703ADCY5c.1829A>C (p.His610Pro)
c.2117A>C (p.His706Pro)
n.1555A>C
c.3227A>C (p.His1076Pro)
c.3152A>C (p.His1051Pro)
c.2102A>C (p.His701Pro)
c.2126A>C (p.His709Pro)
c.2177A>C (p.His726Pro)
c.1904A>C (p.His635Pro)
c.2228A>C (p.His743Pro)
c.2138A>C (p.His713Pro)
c.2129A>C (p.His710Pro)
3g.123291289G>ACA354223706ADCY5c.1828C>T (p.His610Tyr)
c.2116C>T (p.His706Tyr)
n.1554C>T
c.3226C>T (p.His1076Tyr)
c.3151C>T (p.His1051Tyr)
c.2101C>T (p.His701Tyr)
c.2125C>T (p.His709Tyr)
c.2176C>T (p.His726Tyr)
c.1903C>T (p.His635Tyr)
c.2227C>T (p.His743Tyr)
c.2137C>T (p.His713Tyr)
c.2128C>T (p.His710Tyr)
gnomAD v4
3g.123291289G>CCA354223708ADCY5c.1828C>G (p.His610Asp)
c.2116C>G (p.His706Asp)
n.1554C>G
c.3226C>G (p.His1076Asp)
c.3151C>G (p.His1051Asp)
c.2101C>G (p.His701Asp)
c.2125C>G (p.His709Asp)
c.2176C>G (p.His726Asp)
c.1903C>G (p.His635Asp)
c.2227C>G (p.His743Asp)
c.2137C>G (p.His713Asp)
c.2128C>G (p.His710Asp)
3g.123291289G>TCA354223707ADCY5c.1828C>A (p.His610Asn)
c.2116C>A (p.His706Asn)
n.1554C>A
c.3226C>A (p.His1076Asn)
c.3151C>A (p.His1051Asn)
c.2101C>A (p.His701Asn)
c.2125C>A (p.His709Asn)
c.2176C>A (p.His726Asn)
c.1903C>A (p.His635Asn)
c.2227C>A (p.His743Asn)
c.2137C>A (p.His713Asn)
c.2128C>A (p.His710Asn)
3g.123291290A>CCA435431269ADCY5c.1827T>G (p.Ala609=)
c.2115T>G (p.Ala705=)
n.1553T>G
c.3225T>G (p.Ala1075=)
c.3150T>G (p.Ala1050=)
c.2100T>G (p.Ala700=)
c.2124T>G (p.Ala708=)
c.2175T>G (p.Ala725=)
c.1902T>G (p.Ala634=)
c.2226T>G (p.Ala742=)
c.2136T>G (p.Ala712=)
c.2127T>G (p.Ala709=)
3g.123291290A>GCA435431268ADCY5c.1827T>C (p.Ala609=)
c.2115T>C (p.Ala705=)
n.1553T>C
c.3225T>C (p.Ala1075=)
c.3150T>C (p.Ala1050=)
c.2100T>C (p.Ala700=)
c.2124T>C (p.Ala708=)
c.2175T>C (p.Ala725=)
c.1902T>C (p.Ala634=)
c.2226T>C (p.Ala742=)
c.2136T>C (p.Ala712=)
c.2127T>C (p.Ala709=)
3g.123291290A>TCA435431267ADCY5c.1827T>A (p.Ala609=)
c.2115T>A (p.Ala705=)
n.1553T>A
c.3225T>A (p.Ala1075=)
c.3150T>A (p.Ala1050=)
c.2100T>A (p.Ala700=)
c.2124T>A (p.Ala708=)
c.2175T>A (p.Ala725=)
c.1902T>A (p.Ala634=)
c.2226T>A (p.Ala742=)
c.2136T>A (p.Ala712=)
c.2127T>A (p.Ala709=)
3g.123291291G>ACA354223709ADCY5c.1826C>T (p.Ala609Val)
c.2114C>T (p.Ala705Val)
n.1552C>T
c.3224C>T (p.Ala1075Val)
c.3149C>T (p.Ala1050Val)
c.2099C>T (p.Ala700Val)
c.2123C>T (p.Ala708Val)
c.2174C>T (p.Ala725Val)
c.1901C>T (p.Ala634Val)
c.2225C>T (p.Ala742Val)
c.2135C>T (p.Ala712Val)
c.2126C>T (p.Ala709Val)
3g.123291291G>CCA354223711ADCY5c.1826C>G (p.Ala609Gly)
c.2114C>G (p.Ala705Gly)
n.1552C>G
c.3224C>G (p.Ala1075Gly)
c.3149C>G (p.Ala1050Gly)
c.2099C>G (p.Ala700Gly)
c.2123C>G (p.Ala708Gly)
c.2174C>G (p.Ala725Gly)
c.1901C>G (p.Ala634Gly)
c.2225C>G (p.Ala742Gly)
c.2135C>G (p.Ala712Gly)
c.2126C>G (p.Ala709Gly)
3g.123291291G>TCA354223710ADCY5c.1826C>A (p.Ala609Asp)
c.2114C>A (p.Ala705Asp)
n.1552C>A
c.3224C>A (p.Ala1075Asp)
c.3149C>A (p.Ala1050Asp)
c.2099C>A (p.Ala700Asp)
c.2123C>A (p.Ala708Asp)
c.2174C>A (p.Ala725Asp)
c.1901C>A (p.Ala634Asp)
c.2225C>A (p.Ala742Asp)
c.2135C>A (p.Ala712Asp)
c.2126C>A (p.Ala709Asp)
3g.123291292C>ACA354223712ADCY5c.1825G>T (p.Ala609Ser)
c.2113G>T (p.Ala705Ser)
n.1551G>T
c.3223G>T (p.Ala1075Ser)
c.3148G>T (p.Ala1050Ser)
c.2098G>T (p.Ala700Ser)
c.2122G>T (p.Ala708Ser)
c.2173G>T (p.Ala725Ser)
c.1900G>T (p.Ala634Ser)
c.2224G>T (p.Ala742Ser)
c.2134G>T (p.Ala712Ser)
c.2125G>T (p.Ala709Ser)
3g.123291292C=CA1398330427ADCY5c.1825G= (p.Ala609=)
c.2113G= (p.Ala705=)
n.1551G=
c.3223G= (p.Ala1075=)
c.3148G= (p.Ala1050=)
c.2098G= (p.Ala700=)
c.2122G= (p.Ala708=)
c.2173G= (p.Ala725=)
c.1900G= (p.Ala634=)
c.2224G= (p.Ala742=)
c.2134G= (p.Ala712=)
c.2125G= (p.Ala709=)
3g.123291292C>GCA354223713ADCY5c.1825G>C (p.Ala609Pro)
c.2113G>C (p.Ala705Pro)
n.1551G>C
c.3223G>C (p.Ala1075Pro)
c.3148G>C (p.Ala1050Pro)
c.2098G>C (p.Ala700Pro)
c.2122G>C (p.Ala708Pro)
c.2173G>C (p.Ala725Pro)
c.1900G>C (p.Ala634Pro)
c.2224G>C (p.Ala742Pro)
c.2134G>C (p.Ala712Pro)
c.2125G>C (p.Ala709Pro)
3g.123291292C>TCA2576842ADCY5c.1825G>A (p.Ala609Thr)
c.2113G>A (p.Ala705Thr)
n.1551G>A
c.3223G>A (p.Ala1075Thr)
c.3148G>A (p.Ala1050Thr)
c.2098G>A (p.Ala700Thr)
c.2122G>A (p.Ala708Thr)
c.2173G>A (p.Ala725Thr)
c.1900G>A (p.Ala634Thr)
c.2224G>A (p.Ala742Thr)
c.2134G>A (p.Ala712Thr)
c.2125G>A (p.Ala709Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.123291293G>ACA2576843ADCY5c.1824C>T (p.Ala608=)
c.2112C>T (p.Ala704=)
n.1550C>T
c.3222C>T (p.Ala1074=)
c.3147C>T (p.Ala1049=)
c.2097C>T (p.Ala699=)
c.2121C>T (p.Ala707=)
c.2172C>T (p.Ala724=)
c.1899C>T (p.Ala633=)
c.2223C>T (p.Ala741=)
c.2133C>T (p.Ala711=)
c.2124C>T (p.Ala708=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.123291293G>CCA435431270ADCY5c.1824C>G (p.Ala608=)
c.2112C>G (p.Ala704=)
n.1550C>G
c.3222C>G (p.Ala1074=)
c.3147C>G (p.Ala1049=)
c.2097C>G (p.Ala699=)
c.2121C>G (p.Ala707=)
c.2172C>G (p.Ala724=)
c.1899C>G (p.Ala633=)
c.2223C>G (p.Ala741=)
c.2133C>G (p.Ala711=)
c.2124C>G (p.Ala708=)
3g.123291293G=CA1398330428ADCY5c.1824C= (p.Ala608=)
c.2112C= (p.Ala704=)
n.1550C=
c.3222C= (p.Ala1074=)
c.3147C= (p.Ala1049=)
c.2097C= (p.Ala699=)
c.2121C= (p.Ala707=)
c.2172C= (p.Ala724=)
c.1899C= (p.Ala633=)
c.2223C= (p.Ala741=)
c.2133C= (p.Ala711=)
c.2124C= (p.Ala708=)
3g.123291293G>TCA435431271ADCY5c.1824C>A (p.Ala608=)
c.2112C>A (p.Ala704=)
n.1550C>A
c.3222C>A (p.Ala1074=)
c.3147C>A (p.Ala1049=)
c.2097C>A (p.Ala699=)
c.2121C>A (p.Ala707=)
c.2172C>A (p.Ala724=)
c.1899C>A (p.Ala633=)
c.2223C>A (p.Ala741=)
c.2133C>A (p.Ala711=)
c.2124C>A (p.Ala708=)
3g.123291294G>ACA354223714ADCY5c.1823C>T (p.Ala608Val)
c.2111C>T (p.Ala704Val)
n.1549C>T
c.3221C>T (p.Ala1074Val)
c.3146C>T (p.Ala1049Val)
c.2096C>T (p.Ala699Val)
c.2120C>T (p.Ala707Val)
c.2171C>T (p.Ala724Val)
c.1898C>T (p.Ala633Val)
c.2222C>T (p.Ala741Val)
c.2132C>T (p.Ala711Val)
c.2123C>T (p.Ala708Val)
gnomAD v4
3g.123291294G>CCA354223715ADCY5c.1823C>G (p.Ala608Gly)
c.2111C>G (p.Ala704Gly)
n.1549C>G
c.3221C>G (p.Ala1074Gly)
c.3146C>G (p.Ala1049Gly)
c.2096C>G (p.Ala699Gly)
c.2120C>G (p.Ala707Gly)
c.2171C>G (p.Ala724Gly)
c.1898C>G (p.Ala633Gly)
c.2222C>G (p.Ala741Gly)
c.2132C>G (p.Ala711Gly)
c.2123C>G (p.Ala708Gly)
dbSNP gnomAD v4
3g.123291294G=CA1398330429ADCY5c.1823C= (p.Ala608=)
c.2111C= (p.Ala704=)
n.1549C=
c.3221C= (p.Ala1074=)
c.3146C= (p.Ala1049=)
c.2096C= (p.Ala699=)
c.2120C= (p.Ala707=)
c.2171C= (p.Ala724=)
c.1898C= (p.Ala633=)
c.2222C= (p.Ala741=)
c.2132C= (p.Ala711=)
c.2123C= (p.Ala708=)
3g.123291294G>TCA354223716ADCY5c.1823C>A (p.Ala608Asp)
c.2111C>A (p.Ala704Asp)
n.1549C>A
c.3221C>A (p.Ala1074Asp)
c.3146C>A (p.Ala1049Asp)
c.2096C>A (p.Ala699Asp)
c.2120C>A (p.Ala707Asp)
c.2171C>A (p.Ala724Asp)
c.1898C>A (p.Ala633Asp)
c.2222C>A (p.Ala741Asp)
c.2132C>A (p.Ala711Asp)
c.2123C>A (p.Ala708Asp)
3g.123291295C>ACA354223717ADCY5c.1822G>T (p.Ala608Ser)
c.2110G>T (p.Ala704Ser)
n.1548G>T
c.3220G>T (p.Ala1074Ser)
c.3145G>T (p.Ala1049Ser)
c.2095G>T (p.Ala699Ser)
c.2119G>T (p.Ala707Ser)
c.2170G>T (p.Ala724Ser)
c.1897G>T (p.Ala633Ser)
c.2221G>T (p.Ala741Ser)
c.2131G>T (p.Ala711Ser)
c.2122G>T (p.Ala708Ser)
3g.123291295C>GCA354223718ADCY5c.1822G>C (p.Ala608Pro)
c.2110G>C (p.Ala704Pro)
n.1548G>C
c.3220G>C (p.Ala1074Pro)
c.3145G>C (p.Ala1049Pro)
c.2095G>C (p.Ala699Pro)
c.2119G>C (p.Ala707Pro)
c.2170G>C (p.Ala724Pro)
c.1897G>C (p.Ala633Pro)
c.2221G>C (p.Ala741Pro)
c.2131G>C (p.Ala711Pro)
c.2122G>C (p.Ala708Pro)
3g.123291295C>TCA354223719ADCY5c.1822G>A (p.Ala608Thr)
c.2110G>A (p.Ala704Thr)
n.1548G>A
c.3220G>A (p.Ala1074Thr)
c.3145G>A (p.Ala1049Thr)
c.2095G>A (p.Ala699Thr)
c.2119G>A (p.Ala707Thr)
c.2170G>A (p.Ala724Thr)
c.1897G>A (p.Ala633Thr)
c.2221G>A (p.Ala741Thr)
c.2131G>A (p.Ala711Thr)
c.2122G>A (p.Ala708Thr)
3g.123291296C>ACA435431272ADCY5c.1821G>T (p.Val607=)
c.2109G>T (p.Val703=)
n.1547G>T
c.3219G>T (p.Val1073=)
c.3144G>T (p.Val1048=)
c.2094G>T (p.Val698=)
c.2118G>T (p.Val706=)
c.2169G>T (p.Val723=)
c.1896G>T (p.Val632=)
c.2220G>T (p.Val740=)
c.2130G>T (p.Val710=)
c.2121G>T (p.Val707=)
3g.123291296C=CA1398330430ADCY5c.1821G= (p.Val607=)
c.2109G= (p.Val703=)
n.1547G=
c.3219G= (p.Val1073=)
c.3144G= (p.Val1048=)
c.2094G= (p.Val698=)
c.2118G= (p.Val706=)
c.2169G= (p.Val723=)
c.1896G= (p.Val632=)
c.2220G= (p.Val740=)
c.2130G= (p.Val710=)
c.2121G= (p.Val707=)
3g.123291296C>GCA435431273ADCY5c.1821G>C (p.Val607=)
c.2109G>C (p.Val703=)
n.1547G>C
c.3219G>C (p.Val1073=)
c.3144G>C (p.Val1048=)
c.2094G>C (p.Val698=)
c.2118G>C (p.Val706=)
c.2169G>C (p.Val723=)
c.1896G>C (p.Val632=)
c.2220G>C (p.Val740=)
c.2130G>C (p.Val710=)
c.2121G>C (p.Val707=)
3g.123291296C>TCA435431274ADCY5c.1821G>A (p.Val607=)
c.2109G>A (p.Val703=)
n.1547G>A
c.3219G>A (p.Val1073=)
c.3144G>A (p.Val1048=)
c.2094G>A (p.Val698=)
c.2118G>A (p.Val706=)
c.2169G>A (p.Val723=)
c.1896G>A (p.Val632=)
c.2220G>A (p.Val740=)
c.2130G>A (p.Val710=)
c.2121G>A (p.Val707=)
dbSNP gnomAD v3 gnomAD v4
3g.123291297_123291298delCA2667290341ADCY5c.1820_1821del (p.Val607GlyfsTer12)
c.2108_2109del (p.Val703GlyfsTer12)
n.1546_1547del
c.3218_3219del (p.Val1073GlyfsTer12)
c.3143_3144del (p.Val1048GlyfsTer12)
c.2093_2094del (p.Val698GlyfsTer12)
c.2117_2118del (p.Val706GlyfsTer12)
c.2168_2169del (p.Val723GlyfsTer12)
c.1895_1896del (p.Val632GlyfsTer12)
c.2219_2220del (p.Val740GlyfsTer12)
c.2129_2130del (p.Val710GlyfsTer12)
c.2120_2121del (p.Val707GlyfsTer12)
gnomAD v4
3g.123291297A>CCA354223722ADCY5c.1820T>G (p.Val607Gly)
c.2108T>G (p.Val703Gly)
n.1546T>G
c.3218T>G (p.Val1073Gly)
c.3143T>G (p.Val1048Gly)
c.2093T>G (p.Val698Gly)
c.2117T>G (p.Val706Gly)
c.2168T>G (p.Val723Gly)
c.1895T>G (p.Val632Gly)
c.2219T>G (p.Val740Gly)
c.2129T>G (p.Val710Gly)
c.2120T>G (p.Val707Gly)
3g.123291297A>GCA354223721ADCY5c.1820T>C (p.Val607Ala)
c.2108T>C (p.Val703Ala)
n.1546T>C
c.3218T>C (p.Val1073Ala)
c.3143T>C (p.Val1048Ala)
c.2093T>C (p.Val698Ala)
c.2117T>C (p.Val706Ala)
c.2168T>C (p.Val723Ala)
c.1895T>C (p.Val632Ala)
c.2219T>C (p.Val740Ala)
c.2129T>C (p.Val710Ala)
c.2120T>C (p.Val707Ala)
3g.123291297A>TCA354223720ADCY5c.1820T>A (p.Val607Glu)
c.2108T>A (p.Val703Glu)
n.1546T>A
c.3218T>A (p.Val1073Glu)
c.3143T>A (p.Val1048Glu)
c.2093T>A (p.Val698Glu)
c.2117T>A (p.Val706Glu)
c.2168T>A (p.Val723Glu)
c.1895T>A (p.Val632Glu)
c.2219T>A (p.Val740Glu)
c.2129T>A (p.Val710Glu)
c.2120T>A (p.Val707Glu)
3g.123291298C>ACA354223723ADCY5c.1819G>T (p.Val607Leu)
c.2107G>T (p.Val703Leu)
n.1545G>T
c.3217G>T (p.Val1073Leu)
c.3142G>T (p.Val1048Leu)
c.2092G>T (p.Val698Leu)
c.2116G>T (p.Val706Leu)
c.2167G>T (p.Val723Leu)
c.1894G>T (p.Val632Leu)
c.2218G>T (p.Val740Leu)
c.2128G>T (p.Val710Leu)
c.2119G>T (p.Val707Leu)
3g.123291298C=CA1398330431ADCY5c.1819G= (p.Val607=)
c.2107G= (p.Val703=)
n.1545G=
c.3217G= (p.Val1073=)
c.3142G= (p.Val1048=)
c.2092G= (p.Val698=)
c.2116G= (p.Val706=)
c.2167G= (p.Val723=)
c.1894G= (p.Val632=)
c.2218G= (p.Val740=)
c.2128G= (p.Val710=)
c.2119G= (p.Val707=)
3g.123291298C>GCA354223724ADCY5c.1819G>C (p.Val607Leu)
c.2107G>C (p.Val703Leu)
n.1545G>C
c.3217G>C (p.Val1073Leu)
c.3142G>C (p.Val1048Leu)
c.2092G>C (p.Val698Leu)
c.2116G>C (p.Val706Leu)
c.2167G>C (p.Val723Leu)
c.1894G>C (p.Val632Leu)
c.2218G>C (p.Val740Leu)
c.2128G>C (p.Val710Leu)
c.2119G>C (p.Val707Leu)
3g.123291298C>TCA354223725ADCY5c.1819G>A (p.Val607Met)
c.2107G>A (p.Val703Met)
n.1545G>A
c.3217G>A (p.Val1073Met)
c.3142G>A (p.Val1048Met)
c.2092G>A (p.Val698Met)
c.2116G>A (p.Val706Met)
c.2167G>A (p.Val723Met)
c.1894G>A (p.Val632Met)
c.2218G>A (p.Val740Met)
c.2128G>A (p.Val710Met)
c.2119G>A (p.Val707Met)
dbSNP gnomAD v4
3g.123291299G>ACA2576844ADCY5c.1818C>T (p.Asp606=)
c.2106C>T (p.Asp702=)
n.1544C>T
c.3216C>T (p.Asp1072=)
c.3141C>T (p.Asp1047=)
c.2091C>T (p.Asp697=)
c.2115C>T (p.Asp705=)
c.2166C>T (p.Asp722=)
c.1893C>T (p.Asp631=)
c.2217C>T (p.Asp739=)
c.2127C>T (p.Asp709=)
c.2118C>T (p.Asp706=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.123291299G>CCA354223726ADCY5c.1818C>G (p.Asp606Glu)
c.2106C>G (p.Asp702Glu)
n.1544C>G
c.3216C>G (p.Asp1072Glu)
c.3141C>G (p.Asp1047Glu)
c.2091C>G (p.Asp697Glu)
c.2115C>G (p.Asp705Glu)
c.2166C>G (p.Asp722Glu)
c.1893C>G (p.Asp631Glu)
c.2217C>G (p.Asp739Glu)
c.2127C>G (p.Asp709Glu)
c.2118C>G (p.Asp706Glu)
3g.123291299G=CA1398330432ADCY5c.1818C= (p.Asp606=)
c.2106C= (p.Asp702=)
n.1544C=
c.3216C= (p.Asp1072=)
c.3141C= (p.Asp1047=)
c.2091C= (p.Asp697=)
c.2115C= (p.Asp705=)
c.2166C= (p.Asp722=)
c.1893C= (p.Asp631=)
c.2217C= (p.Asp739=)
c.2127C= (p.Asp709=)
c.2118C= (p.Asp706=)
3g.123291299G>TCA354223727ADCY5c.1818C>A (p.Asp606Glu)
c.2106C>A (p.Asp702Glu)
n.1544C>A
c.3216C>A (p.Asp1072Glu)
c.3141C>A (p.Asp1047Glu)
c.2091C>A (p.Asp697Glu)
c.2115C>A (p.Asp705Glu)
c.2166C>A (p.Asp722Glu)
c.1893C>A (p.Asp631Glu)
c.2217C>A (p.Asp739Glu)
c.2127C>A (p.Asp709Glu)
c.2118C>A (p.Asp706Glu)
3g.123291300T>ACA354223728ADCY5c.1817A>T (p.Asp606Val)
c.2105A>T (p.Asp702Val)
n.1543A>T
c.3215A>T (p.Asp1072Val)
c.3140A>T (p.Asp1047Val)
c.2090A>T (p.Asp697Val)
c.2114A>T (p.Asp705Val)
c.2165A>T (p.Asp722Val)
c.1892A>T (p.Asp631Val)
c.2216A>T (p.Asp739Val)
c.2126A>T (p.Asp709Val)
c.2117A>T (p.Asp706Val)
3g.123291300T>CCA354223729ADCY5c.1817A>G (p.Asp606Gly)
c.2105A>G (p.Asp702Gly)
n.1543A>G
c.3215A>G (p.Asp1072Gly)
c.3140A>G (p.Asp1047Gly)
c.2090A>G (p.Asp697Gly)
c.2114A>G (p.Asp705Gly)
c.2165A>G (p.Asp722Gly)
c.1892A>G (p.Asp631Gly)
c.2216A>G (p.Asp739Gly)
c.2126A>G (p.Asp709Gly)
c.2117A>G (p.Asp706Gly)
gnomAD v4
3g.123291300T>GCA354223730ADCY5c.1817A>C (p.Asp606Ala)
c.2105A>C (p.Asp702Ala)
n.1543A>C
c.3215A>C (p.Asp1072Ala)
c.3140A>C (p.Asp1047Ala)
c.2090A>C (p.Asp697Ala)
c.2114A>C (p.Asp705Ala)
c.2165A>C (p.Asp722Ala)
c.1892A>C (p.Asp631Ala)
c.2216A>C (p.Asp739Ala)
c.2126A>C (p.Asp709Ala)
c.2117A>C (p.Asp706Ala)
3g.123291301C>ACA354223731ADCY5c.1816G>T (p.Asp606Tyr)
c.2104G>T (p.Asp702Tyr)
n.1542G>T
c.3214G>T (p.Asp1072Tyr)
c.3139G>T (p.Asp1047Tyr)
c.2089G>T (p.Asp697Tyr)
c.2113G>T (p.Asp705Tyr)
c.2164G>T (p.Asp722Tyr)
c.1891G>T (p.Asp631Tyr)
c.2215G>T (p.Asp739Tyr)
c.2125G>T (p.Asp709Tyr)
c.2116G>T (p.Asp706Tyr)
3g.123291301C>GCA354223732ADCY5c.1816G>C (p.Asp606His)
c.2104G>C (p.Asp702His)
n.1542G>C
c.3214G>C (p.Asp1072His)
c.3139G>C (p.Asp1047His)
c.2089G>C (p.Asp697His)
c.2113G>C (p.Asp705His)
c.2164G>C (p.Asp722His)
c.1891G>C (p.Asp631His)
c.2215G>C (p.Asp739His)
c.2125G>C (p.Asp709His)
c.2116G>C (p.Asp706His)
3g.123291301C>TCA354223733ADCY5c.1816G>A (p.Asp606Asn)
c.2104G>A (p.Asp702Asn)
n.1542G>A
c.3214G>A (p.Asp1072Asn)
c.3139G>A (p.Asp1047Asn)
c.2089G>A (p.Asp697Asn)
c.2113G>A (p.Asp705Asn)
c.2164G>A (p.Asp722Asn)
c.1891G>A (p.Asp631Asn)
c.2215G>A (p.Asp739Asn)
c.2125G>A (p.Asp709Asn)
c.2116G>A (p.Asp706Asn)
3g.123291302C>ACA354223734ADCY5c.1815G>T (p.Lys605Asn)
c.2103G>T (p.Lys701Asn)
n.1541G>T
c.3213G>T (p.Lys1071Asn)
c.3138G>T (p.Lys1046Asn)
c.2088G>T (p.Lys696Asn)
c.2112G>T (p.Lys704Asn)
c.2163G>T (p.Lys721Asn)
c.1890G>T (p.Lys630Asn)
c.2214G>T (p.Lys738Asn)
c.2124G>T (p.Lys708Asn)
c.2115G>T (p.Lys705Asn)
3g.123291302C>GCA354223735ADCY5c.1815G>C (p.Lys605Asn)
c.2103G>C (p.Lys701Asn)
n.1541G>C
c.3213G>C (p.Lys1071Asn)
c.3138G>C (p.Lys1046Asn)
c.2088G>C (p.Lys696Asn)
c.2112G>C (p.Lys704Asn)
c.2163G>C (p.Lys721Asn)
c.1890G>C (p.Lys630Asn)
c.2214G>C (p.Lys738Asn)
c.2124G>C (p.Lys708Asn)
c.2115G>C (p.Lys705Asn)
3g.123291302C>TCA435431275ADCY5c.1815G>A (p.Lys605=)
c.2103G>A (p.Lys701=)
n.1541G>A
c.3213G>A (p.Lys1071=)
c.3138G>A (p.Lys1046=)
c.2088G>A (p.Lys696=)
c.2112G>A (p.Lys704=)
c.2163G>A (p.Lys721=)
c.1890G>A (p.Lys630=)
c.2214G>A (p.Lys738=)
c.2124G>A (p.Lys708=)
c.2115G>A (p.Lys705=)
COSMIC
3g.123291303T>ACA354223736ADCY5c.1814A>T (p.Lys605Met)
c.2102A>T (p.Lys701Met)
n.1540A>T
c.3212A>T (p.Lys1071Met)
c.3137A>T (p.Lys1046Met)
c.2087A>T (p.Lys696Met)
c.2111A>T (p.Lys704Met)
c.2162A>T (p.Lys721Met)
c.1889A>T (p.Lys630Met)
c.2213A>T (p.Lys738Met)
c.2123A>T (p.Lys708Met)
c.2114A>T (p.Lys705Met)
3g.123291303T>CCA354223737ADCY5c.1814A>G (p.Lys605Arg)
c.2102A>G (p.Lys701Arg)
n.1540A>G
c.3212A>G (p.Lys1071Arg)
c.3137A>G (p.Lys1046Arg)
c.2087A>G (p.Lys696Arg)
c.2111A>G (p.Lys704Arg)
c.2162A>G (p.Lys721Arg)
c.1889A>G (p.Lys630Arg)
c.2213A>G (p.Lys738Arg)
c.2123A>G (p.Lys708Arg)
c.2114A>G (p.Lys705Arg)
gnomAD v4
3g.123291303T>GCA354223738ADCY5c.1814A>C (p.Lys605Thr)
c.2102A>C (p.Lys701Thr)
n.1540A>C
c.3212A>C (p.Lys1071Thr)
c.3137A>C (p.Lys1046Thr)
c.2087A>C (p.Lys696Thr)
c.2111A>C (p.Lys704Thr)
c.2162A>C (p.Lys721Thr)
c.1889A>C (p.Lys630Thr)
c.2213A>C (p.Lys738Thr)
c.2123A>C (p.Lys708Thr)
c.2114A>C (p.Lys705Thr)
3g.123291304T>ACA354223739ADCY5c.1813A>T (p.Lys605Ter)
c.2101A>T (p.Lys701Ter)
n.1539A>T
c.3211A>T (p.Lys1071Ter)
c.3136A>T (p.Lys1046Ter)
c.2086A>T (p.Lys696Ter)
c.2110A>T (p.Lys704Ter)
c.2161A>T (p.Lys721Ter)
c.1888A>T (p.Lys630Ter)
c.2212A>T (p.Lys738Ter)
c.2122A>T (p.Lys708Ter)
c.2113A>T (p.Lys705Ter)
dbSNP
3g.123291304T>CCA354223740ADCY5c.1813A>G (p.Lys605Glu)
c.2101A>G (p.Lys701Glu)
n.1539A>G
c.3211A>G (p.Lys1071Glu)
c.3136A>G (p.Lys1046Glu)
c.2086A>G (p.Lys696Glu)
c.2110A>G (p.Lys704Glu)
c.2161A>G (p.Lys721Glu)
c.1888A>G (p.Lys630Glu)
c.2212A>G (p.Lys738Glu)
c.2122A>G (p.Lys708Glu)
c.2113A>G (p.Lys705Glu)
3g.123291304T>GCA354223741ADCY5c.1813A>C (p.Lys605Gln)
c.2101A>C (p.Lys701Gln)
n.1539A>C
c.3211A>C (p.Lys1071Gln)
c.3136A>C (p.Lys1046Gln)
c.2086A>C (p.Lys696Gln)
c.2110A>C (p.Lys704Gln)
c.2161A>C (p.Lys721Gln)
c.1888A>C (p.Lys630Gln)
c.2212A>C (p.Lys738Gln)
c.2122A>C (p.Lys708Gln)
c.2113A>C (p.Lys705Gln)
3g.123291304T=CA1398330433ADCY5c.1813A= (p.Lys605=)
c.2101A= (p.Lys701=)
n.1539A=
c.3211A= (p.Lys1071=)
c.3136A= (p.Lys1046=)
c.2086A= (p.Lys696=)
c.2110A= (p.Lys704=)
c.2161A= (p.Lys721=)
c.1888A= (p.Lys630=)
c.2212A= (p.Lys738=)
c.2122A= (p.Lys708=)
c.2113A= (p.Lys705=)
3g.123291305G>ACA82904117ADCY5c.1812C>T (p.Pro604=)
c.2100C>T (p.Pro700=)
n.1538C>T
c.3210C>T (p.Pro1070=)
c.3135C>T (p.Pro1045=)
c.2085C>T (p.Pro695=)
c.2109C>T (p.Pro703=)
c.2160C>T (p.Pro720=)
c.1887C>T (p.Pro629=)
c.2211C>T (p.Pro737=)
c.2121C>T (p.Pro707=)
c.2112C>T (p.Pro704=)
dbSNP
3g.123291305G>CCA435431276ADCY5c.1812C>G (p.Pro604=)
c.2100C>G (p.Pro700=)
n.1538C>G
c.3210C>G (p.Pro1070=)
c.3135C>G (p.Pro1045=)
c.2085C>G (p.Pro695=)
c.2109C>G (p.Pro703=)
c.2160C>G (p.Pro720=)
c.1887C>G (p.Pro629=)
c.2211C>G (p.Pro737=)
c.2121C>G (p.Pro707=)
c.2112C>G (p.Pro704=)
3g.123291305G=CA1398330434ADCY5c.1812C= (p.Pro604=)
c.2100C= (p.Pro700=)
n.1538C=
c.3210C= (p.Pro1070=)
c.3135C= (p.Pro1045=)
c.2085C= (p.Pro695=)
c.2109C= (p.Pro703=)
c.2160C= (p.Pro720=)
c.1887C= (p.Pro629=)
c.2211C= (p.Pro737=)
c.2121C= (p.Pro707=)
c.2112C= (p.Pro704=)
3g.123291305G>TCA435431277ADCY5c.1812C>A (p.Pro604=)
c.2100C>A (p.Pro700=)
n.1538C>A
c.3210C>A (p.Pro1070=)
c.3135C>A (p.Pro1045=)
c.2085C>A (p.Pro695=)
c.2109C>A (p.Pro703=)
c.2160C>A (p.Pro720=)
c.1887C>A (p.Pro629=)
c.2211C>A (p.Pro737=)
c.2121C>A (p.Pro707=)
c.2112C>A (p.Pro704=)
3g.123291306G>ACA354223742ADCY5c.1811C>T (p.Pro604Leu)
c.2099C>T (p.Pro700Leu)
n.1537C>T
c.3209C>T (p.Pro1070Leu)
c.3134C>T (p.Pro1045Leu)
c.2084C>T (p.Pro695Leu)
c.2108C>T (p.Pro703Leu)
c.2159C>T (p.Pro720Leu)
c.1886C>T (p.Pro629Leu)
c.2210C>T (p.Pro737Leu)
c.2120C>T (p.Pro707Leu)
c.2111C>T (p.Pro704Leu)
COSMIC
3g.123291306G>CCA354223743ADCY5c.1811C>G (p.Pro604Arg)
c.2099C>G (p.Pro700Arg)
n.1537C>G
c.3209C>G (p.Pro1070Arg)
c.3134C>G (p.Pro1045Arg)
c.2084C>G (p.Pro695Arg)
c.2108C>G (p.Pro703Arg)
c.2159C>G (p.Pro720Arg)
c.1886C>G (p.Pro629Arg)
c.2210C>G (p.Pro737Arg)
c.2120C>G (p.Pro707Arg)
c.2111C>G (p.Pro704Arg)
dbSNP gnomAD v2 gnomAD v4
3g.123291306G=CA1398330435ADCY5c.1811C= (p.Pro604=)
c.2099C= (p.Pro700=)
n.1537C=
c.3209C= (p.Pro1070=)
c.3134C= (p.Pro1045=)
c.2084C= (p.Pro695=)
c.2108C= (p.Pro703=)
c.2159C= (p.Pro720=)
c.1886C= (p.Pro629=)
c.2210C= (p.Pro737=)
c.2120C= (p.Pro707=)
c.2111C= (p.Pro704=)
3g.123291306G>TCA354223744ADCY5c.1811C>A (p.Pro604His)
c.2099C>A (p.Pro700His)
n.1537C>A
c.3209C>A (p.Pro1070His)
c.3134C>A (p.Pro1045His)
c.2084C>A (p.Pro695His)
c.2108C>A (p.Pro703His)
c.2159C>A (p.Pro720His)
c.1886C>A (p.Pro629His)
c.2210C>A (p.Pro737His)
c.2120C>A (p.Pro707His)
c.2111C>A (p.Pro704His)
3g.123291307G>ACA354223745ADCY5c.1810C>T (p.Pro604Ser)
c.2098C>T (p.Pro700Ser)
n.1536C>T
c.3208C>T (p.Pro1070Ser)
c.3133C>T (p.Pro1045Ser)
c.2083C>T (p.Pro695Ser)
c.2107C>T (p.Pro703Ser)
c.2158C>T (p.Pro720Ser)
c.1885C>T (p.Pro629Ser)
c.2209C>T (p.Pro737Ser)
c.2119C>T (p.Pro707Ser)
c.2110C>T (p.Pro704Ser)
COSMIC
3g.123291307G>CCA354223746ADCY5c.1810C>G (p.Pro604Ala)
c.2098C>G (p.Pro700Ala)
n.1536C>G
c.3208C>G (p.Pro1070Ala)
c.3133C>G (p.Pro1045Ala)
c.2083C>G (p.Pro695Ala)
c.2107C>G (p.Pro703Ala)
c.2158C>G (p.Pro720Ala)
c.1885C>G (p.Pro629Ala)
c.2209C>G (p.Pro737Ala)
c.2119C>G (p.Pro707Ala)
c.2110C>G (p.Pro704Ala)
3g.123291307G>TCA354223747ADCY5c.1810C>A (p.Pro604Thr)
c.2098C>A (p.Pro700Thr)
n.1536C>A
c.3208C>A (p.Pro1070Thr)
c.3133C>A (p.Pro1045Thr)
c.2083C>A (p.Pro695Thr)
c.2107C>A (p.Pro703Thr)
c.2158C>A (p.Pro720Thr)
c.1885C>A (p.Pro629Thr)
c.2209C>A (p.Pro737Thr)
c.2119C>A (p.Pro707Thr)
c.2110C>A (p.Pro704Thr)
3g.123291308C>ACA435431278ADCY5c.1809G>T (p.Leu603=)
c.2097G>T (p.Leu699=)
n.1535G>T
c.3207G>T (p.Leu1069=)
c.3132G>T (p.Leu1044=)
c.2082G>T (p.Leu694=)
c.2106G>T (p.Leu702=)
c.2157G>T (p.Leu719=)
c.1884G>T (p.Leu628=)
c.2208G>T (p.Leu736=)
c.2118G>T (p.Leu706=)
c.2109G>T (p.Leu703=)
3g.123291308C>GCA435431279ADCY5c.1809G>C (p.Leu603=)
c.2097G>C (p.Leu699=)
n.1535G>C
c.3207G>C (p.Leu1069=)
c.3132G>C (p.Leu1044=)
c.2082G>C (p.Leu694=)
c.2106G>C (p.Leu702=)
c.2157G>C (p.Leu719=)
c.1884G>C (p.Leu628=)
c.2208G>C (p.Leu736=)
c.2118G>C (p.Leu706=)
c.2109G>C (p.Leu703=)
3g.123291308C>TCA435431280ADCY5c.1809G>A (p.Leu603=)
c.2097G>A (p.Leu699=)
n.1535G>A
c.3207G>A (p.Leu1069=)
c.3132G>A (p.Leu1044=)
c.2082G>A (p.Leu694=)
c.2106G>A (p.Leu702=)
c.2157G>A (p.Leu719=)
c.1884G>A (p.Leu628=)
c.2208G>A (p.Leu736=)
c.2118G>A (p.Leu706=)
c.2109G>A (p.Leu703=)
3g.123291309A>CCA354223750ADCY5c.1808T>G (p.Leu603Arg)
c.2096T>G (p.Leu699Arg)
n.1534T>G
c.3206T>G (p.Leu1069Arg)
c.3131T>G (p.Leu1044Arg)
c.2081T>G (p.Leu694Arg)
c.2105T>G (p.Leu702Arg)
c.2156T>G (p.Leu719Arg)
c.1883T>G (p.Leu628Arg)
c.2207T>G (p.Leu736Arg)
c.2117T>G (p.Leu706Arg)
c.2108T>G (p.Leu703Arg)
3g.123291309A>GCA354223748ADCY5c.1808T>C (p.Leu603Pro)
c.2096T>C (p.Leu699Pro)
n.1534T>C
c.3206T>C (p.Leu1069Pro)
c.3131T>C (p.Leu1044Pro)
c.2081T>C (p.Leu694Pro)
c.2105T>C (p.Leu702Pro)
c.2156T>C (p.Leu719Pro)
c.1883T>C (p.Leu628Pro)
c.2207T>C (p.Leu736Pro)
c.2117T>C (p.Leu706Pro)
c.2108T>C (p.Leu703Pro)
3g.123291309A>TCA354223749ADCY5c.1808T>A (p.Leu603Gln)
c.2096T>A (p.Leu699Gln)
n.1534T>A
c.3206T>A (p.Leu1069Gln)
c.3131T>A (p.Leu1044Gln)
c.2081T>A (p.Leu694Gln)
c.2105T>A (p.Leu702Gln)
c.2156T>A (p.Leu719Gln)
c.1883T>A (p.Leu628Gln)
c.2207T>A (p.Leu736Gln)
c.2117T>A (p.Leu706Gln)
c.2108T>A (p.Leu703Gln)
3g.123291310G>ACA435431281ADCY5c.1807C>T (p.Leu603=)
c.2095C>T (p.Leu699=)
n.1533C>T
c.3205C>T (p.Leu1069=)
c.3130C>T (p.Leu1044=)
c.2080C>T (p.Leu694=)
c.2104C>T (p.Leu702=)
c.2155C>T (p.Leu719=)
c.1882C>T (p.Leu628=)
c.2206C>T (p.Leu736=)
c.2116C>T (p.Leu706=)
c.2107C>T (p.Leu703=)
gnomAD v4
3g.123291310G>CCA354223751ADCY5c.1807C>G (p.Leu603Val)
c.2095C>G (p.Leu699Val)
n.1533C>G
c.3205C>G (p.Leu1069Val)
c.3130C>G (p.Leu1044Val)
c.2080C>G (p.Leu694Val)
c.2104C>G (p.Leu702Val)
c.2155C>G (p.Leu719Val)
c.1882C>G (p.Leu628Val)
c.2206C>G (p.Leu736Val)
c.2116C>G (p.Leu706Val)
c.2107C>G (p.Leu703Val)
3g.123291310G>TCA354223752ADCY5c.1807C>A (p.Leu603Met)
c.2095C>A (p.Leu699Met)
n.1533C>A
c.3205C>A (p.Leu1069Met)
c.3130C>A (p.Leu1044Met)
c.2080C>A (p.Leu694Met)
c.2104C>A (p.Leu702Met)
c.2155C>A (p.Leu719Met)
c.1882C>A (p.Leu628Met)
c.2206C>A (p.Leu736Met)
c.2116C>A (p.Leu706Met)
c.2107C>A (p.Leu703Met)
3g.123291311G>ACA435431283ADCY5c.1806C>T (p.Ile602=)
c.2094C>T (p.Ile698=)
n.1532C>T
c.3204C>T (p.Ile1068=)
c.3129C>T (p.Ile1043=)
c.2079C>T (p.Ile693=)
c.2103C>T (p.Ile701=)
c.2154C>T (p.Ile718=)
c.1881C>T (p.Ile627=)
c.2205C>T (p.Ile735=)
c.2115C>T (p.Ile705=)
c.2106C>T (p.Ile702=)
3g.123291311G>CCA354223753ADCY5c.1806C>G (p.Ile602Met)
c.2094C>G (p.Ile698Met)
n.1532C>G
c.3204C>G (p.Ile1068Met)
c.3129C>G (p.Ile1043Met)
c.2079C>G (p.Ile693Met)
c.2103C>G (p.Ile701Met)
c.2154C>G (p.Ile718Met)
c.1881C>G (p.Ile627Met)
c.2205C>G (p.Ile735Met)
c.2115C>G (p.Ile705Met)
c.2106C>G (p.Ile702Met)
3g.123291311G>TCA435431284ADCY5c.1806C>A (p.Ile602=)
c.2094C>A (p.Ile698=)
n.1532C>A
c.3204C>A (p.Ile1068=)
c.3129C>A (p.Ile1043=)
c.2079C>A (p.Ile693=)
c.2103C>A (p.Ile701=)
c.2154C>A (p.Ile718=)
c.1881C>A (p.Ile627=)
c.2205C>A (p.Ile735=)
c.2115C>A (p.Ile705=)
c.2106C>A (p.Ile702=)
3g.123291312A>CCA354223754ADCY5c.1805T>G (p.Ile602Ser)
c.2093T>G (p.Ile698Ser)
n.1531T>G
c.3203T>G (p.Ile1068Ser)
c.3128T>G (p.Ile1043Ser)
c.2078T>G (p.Ile693Ser)
c.2102T>G (p.Ile701Ser)
c.2153T>G (p.Ile718Ser)
c.1880T>G (p.Ile627Ser)
c.2204T>G (p.Ile735Ser)
c.2114T>G (p.Ile705Ser)
c.2105T>G (p.Ile702Ser)
3g.123291312A>GCA354223755ADCY5c.1805T>C (p.Ile602Thr)
c.2093T>C (p.Ile698Thr)
n.1531T>C
c.3203T>C (p.Ile1068Thr)
c.3128T>C (p.Ile1043Thr)
c.2078T>C (p.Ile693Thr)
c.2102T>C (p.Ile701Thr)
c.2153T>C (p.Ile718Thr)
c.1880T>C (p.Ile627Thr)
c.2204T>C (p.Ile735Thr)
c.2114T>C (p.Ile705Thr)
c.2105T>C (p.Ile702Thr)
3g.123291312A>TCA354223756ADCY5c.1805T>A (p.Ile602Asn)
c.2093T>A (p.Ile698Asn)
n.1531T>A
c.3203T>A (p.Ile1068Asn)
c.3128T>A (p.Ile1043Asn)
c.2078T>A (p.Ile693Asn)
c.2102T>A (p.Ile701Asn)
c.2153T>A (p.Ile718Asn)
c.1880T>A (p.Ile627Asn)
c.2204T>A (p.Ile735Asn)
c.2114T>A (p.Ile705Asn)
c.2105T>A (p.Ile702Asn)
3g.123291313T>ACA354223757ADCY5c.1804A>T (p.Ile602Phe)
c.2092A>T (p.Ile698Phe)
n.1530A>T
c.3202A>T (p.Ile1068Phe)
c.3127A>T (p.Ile1043Phe)
c.2077A>T (p.Ile693Phe)
c.2101A>T (p.Ile701Phe)
c.2152A>T (p.Ile718Phe)
c.1879A>T (p.Ile627Phe)
c.2203A>T (p.Ile735Phe)
c.2113A>T (p.Ile705Phe)
c.2104A>T (p.Ile702Phe)
3g.123291313T>CCA354223758ADCY5c.1804A>G (p.Ile602Val)
c.2092A>G (p.Ile698Val)
n.1530A>G
c.3202A>G (p.Ile1068Val)
c.3127A>G (p.Ile1043Val)
c.2077A>G (p.Ile693Val)
c.2101A>G (p.Ile701Val)
c.2152A>G (p.Ile718Val)
c.1879A>G (p.Ile627Val)
c.2203A>G (p.Ile735Val)
c.2113A>G (p.Ile705Val)
c.2104A>G (p.Ile702Val)
3g.123291313T>GCA354223759ADCY5c.1804A>C (p.Ile602Leu)
c.2092A>C (p.Ile698Leu)
n.1530A>C
c.3202A>C (p.Ile1068Leu)
c.3127A>C (p.Ile1043Leu)
c.2077A>C (p.Ile693Leu)
c.2101A>C (p.Ile701Leu)
c.2152A>C (p.Ile718Leu)
c.1879A>C (p.Ile627Leu)
c.2203A>C (p.Ile735Leu)
c.2113A>C (p.Ile705Leu)
c.2104A>C (p.Ile702Leu)
3g.123291314G>ACA2576845ADCY5c.1803C>T (p.Asn601=)
c.2091C>T (p.Asn697=)
n.1529C>T
c.3201C>T (p.Asn1067=)
c.3126C>T (p.Asn1042=)
c.2076C>T (p.Asn692=)
c.2100C>T (p.Asn700=)
c.2151C>T (p.Asn717=)
c.1878C>T (p.Asn626=)
c.2202C>T (p.Asn734=)
c.2112C>T (p.Asn704=)
c.2103C>T (p.Asn701=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.123291314G>CCA354223760ADCY5c.1803C>G (p.Asn601Lys)
c.2091C>G (p.Asn697Lys)
n.1529C>G
c.3201C>G (p.Asn1067Lys)
c.3126C>G (p.Asn1042Lys)
c.2076C>G (p.Asn692Lys)
c.2100C>G (p.Asn700Lys)
c.2151C>G (p.Asn717Lys)
c.1878C>G (p.Asn626Lys)
c.2202C>G (p.Asn734Lys)
c.2112C>G (p.Asn704Lys)
c.2103C>G (p.Asn701Lys)
3g.123291314G=CA1398330436ADCY5c.1803C= (p.Asn601=)
c.2091C= (p.Asn697=)
n.1529C=
c.3201C= (p.Asn1067=)
c.3126C= (p.Asn1042=)
c.2076C= (p.Asn692=)
c.2100C= (p.Asn700=)
c.2151C= (p.Asn717=)
c.1878C= (p.Asn626=)
c.2202C= (p.Asn734=)
c.2112C= (p.Asn704=)
c.2103C= (p.Asn701=)
3g.123291314G>TCA354223761ADCY5c.1803C>A (p.Asn601Lys)
c.2091C>A (p.Asn697Lys)
n.1529C>A
c.3201C>A (p.Asn1067Lys)
c.3126C>A (p.Asn1042Lys)
c.2076C>A (p.Asn692Lys)
c.2100C>A (p.Asn700Lys)
c.2151C>A (p.Asn717Lys)
c.1878C>A (p.Asn626Lys)
c.2202C>A (p.Asn734Lys)
c.2112C>A (p.Asn704Lys)
c.2103C>A (p.Asn701Lys)
3g.123291315T>ACA354223763ADCY5c.1802A>T (p.Asn601Ile)
c.2090A>T (p.Asn697Ile)
n.1528A>T
c.3200A>T (p.Asn1067Ile)
c.3125A>T (p.Asn1042Ile)
c.2075A>T (p.Asn692Ile)
c.2099A>T (p.Asn700Ile)
c.2150A>T (p.Asn717Ile)
c.1877A>T (p.Asn626Ile)
c.2201A>T (p.Asn734Ile)
c.2111A>T (p.Asn704Ile)
c.2102A>T (p.Asn701Ile)
3g.123291315T>CCA354223764ADCY5c.1802A>G (p.Asn601Ser)
c.2090A>G (p.Asn697Ser)
n.1528A>G
c.3200A>G (p.Asn1067Ser)
c.3125A>G (p.Asn1042Ser)
c.2075A>G (p.Asn692Ser)
c.2099A>G (p.Asn700Ser)
c.2150A>G (p.Asn717Ser)
c.1877A>G (p.Asn626Ser)
c.2201A>G (p.Asn734Ser)
c.2111A>G (p.Asn704Ser)
c.2102A>G (p.Asn701Ser)
3g.123291315T>GCA354223762ADCY5c.1802A>C (p.Asn601Thr)
c.2090A>C (p.Asn697Thr)
n.1528A>C
c.3200A>C (p.Asn1067Thr)
c.3125A>C (p.Asn1042Thr)
c.2075A>C (p.Asn692Thr)
c.2099A>C (p.Asn700Thr)
c.2150A>C (p.Asn717Thr)
c.1877A>C (p.Asn626Thr)
c.2201A>C (p.Asn734Thr)
c.2111A>C (p.Asn704Thr)
c.2102A>C (p.Asn701Thr)
3g.123291316T>ACA354223767ADCY5c.1801A>T (p.Asn601Tyr)
c.2089A>T (p.Asn697Tyr)
n.1527A>T
c.3199A>T (p.Asn1067Tyr)
c.3124A>T (p.Asn1042Tyr)
c.2074A>T (p.Asn692Tyr)
c.2098A>T (p.Asn700Tyr)
c.2149A>T (p.Asn717Tyr)
c.1876A>T (p.Asn626Tyr)
c.2200A>T (p.Asn734Tyr)
c.2110A>T (p.Asn704Tyr)
c.2101A>T (p.Asn701Tyr)
3g.123291316T>CCA354223765ADCY5c.1801A>G (p.Asn601Asp)
c.2089A>G (p.Asn697Asp)
n.1527A>G
c.3199A>G (p.Asn1067Asp)
c.3124A>G (p.Asn1042Asp)
c.2074A>G (p.Asn692Asp)
c.2098A>G (p.Asn700Asp)
c.2149A>G (p.Asn717Asp)
c.1876A>G (p.Asn626Asp)
c.2200A>G (p.Asn734Asp)
c.2110A>G (p.Asn704Asp)
c.2101A>G (p.Asn701Asp)
3g.123291316T>GCA354223766ADCY5c.1801A>C (p.Asn601His)
c.2089A>C (p.Asn697His)
n.1527A>C
c.3199A>C (p.Asn1067His)
c.3124A>C (p.Asn1042His)
c.2074A>C (p.Asn692His)
c.2098A>C (p.Asn700His)
c.2149A>C (p.Asn717His)
c.1876A>C (p.Asn626His)
c.2200A>C (p.Asn734His)
c.2110A>C (p.Asn704His)
c.2101A>C (p.Asn701His)
3g.123291317G>ACA435431288ADCY5c.1800C>T (p.His600=)
c.2088C>T (p.His696=)
n.1526C>T
c.3198C>T (p.His1066=)
c.3123C>T (p.His1041=)
c.2073C>T (p.His691=)
c.2097C>T (p.His699=)
c.2148C>T (p.His716=)
c.1875C>T (p.His625=)
c.2199C>T (p.His733=)
c.2109C>T (p.His703=)
c.2100C>T (p.His700=)
3g.123291317G>CCA354223768ADCY5c.1800C>G (p.His600Gln)
c.2088C>G (p.His696Gln)
n.1526C>G
c.3198C>G (p.His1066Gln)
c.3123C>G (p.His1041Gln)
c.2073C>G (p.His691Gln)
c.2097C>G (p.His699Gln)
c.2148C>G (p.His716Gln)
c.1875C>G (p.His625Gln)
c.2199C>G (p.His733Gln)
c.2109C>G (p.His703Gln)
c.2100C>G (p.His700Gln)
3g.123291317G>TCA354223769ADCY5c.1800C>A (p.His600Gln)
c.2088C>A (p.His696Gln)
n.1526C>A
c.3198C>A (p.His1066Gln)
c.3123C>A (p.His1041Gln)
c.2073C>A (p.His691Gln)
c.2097C>A (p.His699Gln)
c.2148C>A (p.His716Gln)
c.1875C>A (p.His625Gln)
c.2199C>A (p.His733Gln)
c.2109C>A (p.His703Gln)
c.2100C>A (p.His700Gln)
3g.123291318T>ACA354223770ADCY5c.1799A>T (p.His600Leu)
c.2087A>T (p.His696Leu)
n.1525A>T
c.3197A>T (p.His1066Leu)
c.3122A>T (p.His1041Leu)
c.2072A>T (p.His691Leu)
c.2096A>T (p.His699Leu)
c.2147A>T (p.His716Leu)
c.1874A>T (p.His625Leu)
c.2198A>T (p.His733Leu)
c.2108A>T (p.His703Leu)
c.2099A>T (p.His700Leu)
3g.123291318T>CCA354223771ADCY5c.1799A>G (p.His600Arg)
c.2087A>G (p.His696Arg)
n.1525A>G
c.3197A>G (p.His1066Arg)
c.3122A>G (p.His1041Arg)
c.2072A>G (p.His691Arg)
c.2096A>G (p.His699Arg)
c.2147A>G (p.His716Arg)
c.1874A>G (p.His625Arg)
c.2198A>G (p.His733Arg)
c.2108A>G (p.His703Arg)
c.2099A>G (p.His700Arg)
3g.123291318T>GCA354223772ADCY5c.1799A>C (p.His600Pro)
c.2087A>C (p.His696Pro)
n.1525A>C
c.3197A>C (p.His1066Pro)
c.3122A>C (p.His1041Pro)
c.2072A>C (p.His691Pro)
c.2096A>C (p.His699Pro)
c.2147A>C (p.His716Pro)
c.1874A>C (p.His625Pro)
c.2198A>C (p.His733Pro)
c.2108A>C (p.His703Pro)
c.2099A>C (p.His700Pro)
3g.123291319G>ACA354223773ADCY5c.1798C>T (p.His600Tyr)
c.2086C>T (p.His696Tyr)
n.1524C>T
c.3196C>T (p.His1066Tyr)
c.3121C>T (p.His1041Tyr)
c.2071C>T (p.His691Tyr)
c.2095C>T (p.His699Tyr)
c.2146C>T (p.His716Tyr)
c.1873C>T (p.His625Tyr)
c.2197C>T (p.His733Tyr)
c.2107C>T (p.His703Tyr)
c.2098C>T (p.His700Tyr)
3g.123291319G>CCA354223774ADCY5c.1798C>G (p.His600Asp)
c.2086C>G (p.His696Asp)
n.1524C>G
c.3196C>G (p.His1066Asp)
c.3121C>G (p.His1041Asp)
c.2071C>G (p.His691Asp)
c.2095C>G (p.His699Asp)
c.2146C>G (p.His716Asp)
c.1873C>G (p.His625Asp)
c.2197C>G (p.His733Asp)
c.2107C>G (p.His703Asp)
c.2098C>G (p.His700Asp)
3g.123291319G>TCA354223775ADCY5c.1798C>A (p.His600Asn)
c.2086C>A (p.His696Asn)
n.1524C>A
c.3196C>A (p.His1066Asn)
c.3121C>A (p.His1041Asn)
c.2071C>A (p.His691Asn)
c.2095C>A (p.His699Asn)
c.2146C>A (p.His716Asn)
c.1873C>A (p.His625Asn)
c.2197C>A (p.His733Asn)
c.2107C>A (p.His703Asn)
c.2098C>A (p.His700Asn)
3g.123291320C>ACA435431293ADCY5c.1797G>T (p.Leu599=)
c.2085G>T (p.Leu695=)
n.1523G>T
c.3195G>T (p.Leu1065=)
c.3120G>T (p.Leu1040=)
c.2070G>T (p.Leu690=)
c.2094G>T (p.Leu698=)
c.2145G>T (p.Leu715=)
c.1872G>T (p.Leu624=)
c.2196G>T (p.Leu732=)
c.2106G>T (p.Leu702=)
c.2097G>T (p.Leu699=)
3g.123291320C=CA1398330437ADCY5c.1797G= (p.Leu599=)
c.2085G= (p.Leu695=)
n.1523G=
c.3195G= (p.Leu1065=)
c.3120G= (p.Leu1040=)
c.2070G= (p.Leu690=)
c.2094G= (p.Leu698=)
c.2145G= (p.Leu715=)
c.1872G= (p.Leu624=)
c.2196G= (p.Leu732=)
c.2106G= (p.Leu702=)
c.2097G= (p.Leu699=)
3g.123291320C>GCA435431294ADCY5c.1797G>C (p.Leu599=)
c.2085G>C (p.Leu695=)
n.1523G>C
c.3195G>C (p.Leu1065=)
c.3120G>C (p.Leu1040=)
c.2070G>C (p.Leu690=)
c.2094G>C (p.Leu698=)
c.2145G>C (p.Leu715=)
c.1872G>C (p.Leu624=)
c.2196G>C (p.Leu732=)
c.2106G>C (p.Leu702=)
c.2097G>C (p.Leu699=)
3g.123291320C>TCA435431295ADCY5c.1797G>A (p.Leu599=)
c.2085G>A (p.Leu695=)
n.1523G>A
c.3195G>A (p.Leu1065=)
c.3120G>A (p.Leu1040=)
c.2070G>A (p.Leu690=)
c.2094G>A (p.Leu698=)
c.2145G>A (p.Leu715=)
c.1872G>A (p.Leu624=)
c.2196G>A (p.Leu732=)
c.2106G>A (p.Leu702=)
c.2097G>A (p.Leu699=)
dbSNP
3g.123291321A>CCA354223776ADCY5c.1796T>G (p.Leu599Arg)
c.2084T>G (p.Leu695Arg)
n.1522T>G
c.3194T>G (p.Leu1065Arg)
c.3119T>G (p.Leu1040Arg)
c.2069T>G (p.Leu690Arg)
c.2093T>G (p.Leu698Arg)
c.2144T>G (p.Leu715Arg)
c.1871T>G (p.Leu624Arg)
c.2195T>G (p.Leu732Arg)
c.2105T>G (p.Leu702Arg)
c.2096T>G (p.Leu699Arg)
3g.123291321A>GCA354223777ADCY5c.1796T>C (p.Leu599Pro)
c.2084T>C (p.Leu695Pro)
n.1522T>C
c.3194T>C (p.Leu1065Pro)
c.3119T>C (p.Leu1040Pro)
c.2069T>C (p.Leu690Pro)
c.2093T>C (p.Leu698Pro)
c.2144T>C (p.Leu715Pro)
c.1871T>C (p.Leu624Pro)
c.2195T>C (p.Leu732Pro)
c.2105T>C (p.Leu702Pro)
c.2096T>C (p.Leu699Pro)
ClinVar dbSNP
3g.123291321A>TCA354223778ADCY5c.1796T>A (p.Leu599Gln)
c.2084T>A (p.Leu695Gln)
n.1522T>A
c.3194T>A (p.Leu1065Gln)
c.3119T>A (p.Leu1040Gln)
c.2069T>A (p.Leu690Gln)
c.2093T>A (p.Leu698Gln)
c.2144T>A (p.Leu715Gln)
c.1871T>A (p.Leu624Gln)
c.2195T>A (p.Leu732Gln)
c.2105T>A (p.Leu702Gln)
c.2096T>A (p.Leu699Gln)
3g.123291322G>ACA2576846ADCY5c.1795C>T (p.Leu599=)
c.2083C>T (p.Leu695=)
n.1521C>T
c.3193C>T (p.Leu1065=)
c.3118C>T (p.Leu1040=)
c.2068C>T (p.Leu690=)
c.2092C>T (p.Leu698=)
c.2143C>T (p.Leu715=)
c.1870C>T (p.Leu624=)
c.2194C>T (p.Leu732=)
c.2104C>T (p.Leu702=)
c.2095C>T (p.Leu699=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.123291322G>CCA354223780ADCY5c.1795C>G (p.Leu599Val)
c.2083C>G (p.Leu695Val)
n.1521C>G
c.3193C>G (p.Leu1065Val)
c.3118C>G (p.Leu1040Val)
c.2068C>G (p.Leu690Val)
c.2092C>G (p.Leu698Val)
c.2143C>G (p.Leu715Val)
c.1870C>G (p.Leu624Val)
c.2194C>G (p.Leu732Val)
c.2104C>G (p.Leu702Val)
c.2095C>G (p.Leu699Val)
3g.123291322G=CA1398330438ADCY5c.1795C= (p.Leu599=)
c.2083C= (p.Leu695=)
n.1521C=
c.3193C= (p.Leu1065=)
c.3118C= (p.Leu1040=)
c.2068C= (p.Leu690=)
c.2092C= (p.Leu698=)
c.2143C= (p.Leu715=)
c.1870C= (p.Leu624=)
c.2194C= (p.Leu732=)
c.2104C= (p.Leu702=)
c.2095C= (p.Leu699=)
3g.123291322G>TCA354223779ADCY5c.1795C>A (p.Leu599Met)
c.2083C>A (p.Leu695Met)
n.1521C>A
c.3193C>A (p.Leu1065Met)
c.3118C>A (p.Leu1040Met)
c.2068C>A (p.Leu690Met)
c.2092C>A (p.Leu698Met)
c.2143C>A (p.Leu715Met)
c.1870C>A (p.Leu624Met)
c.2194C>A (p.Leu732Met)
c.2104C>A (p.Leu702Met)
c.2095C>A (p.Leu699Met)
3g.123291323C>ACA435431298ADCY5c.1794G>T (p.Leu598=)
c.2082G>T (p.Leu694=)
n.1520G>T
c.3192G>T (p.Leu1064=)
c.3117G>T (p.Leu1039=)
c.2067G>T (p.Leu689=)
c.2091G>T (p.Leu697=)
c.2142G>T (p.Leu714=)
c.1869G>T (p.Leu623=)
c.2193G>T (p.Leu731=)
c.2103G>T (p.Leu701=)
c.2094G>T (p.Leu698=)
3g.123291323C=CA1398330439ADCY5c.1794G= (p.Leu598=)
c.2082G= (p.Leu694=)
n.1520G=
c.3192G= (p.Leu1064=)
c.3117G= (p.Leu1039=)
c.2067G= (p.Leu689=)
c.2091G= (p.Leu697=)
c.2142G= (p.Leu714=)
c.1869G= (p.Leu623=)
c.2193G= (p.Leu731=)
c.2103G= (p.Leu701=)
c.2094G= (p.Leu698=)
3g.123291323C>GCA435431299ADCY5c.1794G>C (p.Leu598=)
c.2082G>C (p.Leu694=)
n.1520G>C
c.3192G>C (p.Leu1064=)
c.3117G>C (p.Leu1039=)
c.2067G>C (p.Leu689=)
c.2091G>C (p.Leu697=)
c.2142G>C (p.Leu714=)
c.1869G>C (p.Leu623=)
c.2193G>C (p.Leu731=)
c.2103G>C (p.Leu701=)
c.2094G>C (p.Leu698=)
3g.123291323C>TCA435431300ADCY5c.1794G>A (p.Leu598=)
c.2082G>A (p.Leu694=)
n.1520G>A
c.3192G>A (p.Leu1064=)
c.3117G>A (p.Leu1039=)
c.2067G>A (p.Leu689=)
c.2091G>A (p.Leu697=)
c.2142G>A (p.Leu714=)
c.1869G>A (p.Leu623=)
c.2193G>A (p.Leu731=)
c.2103G>A (p.Leu701=)
c.2094G>A (p.Leu698=)
dbSNP gnomAD v3 gnomAD v4
3g.123291324A>CCA354223781ADCY5c.1793T>G (p.Leu598Arg)
c.2081T>G (p.Leu694Arg)
n.1519T>G
c.3191T>G (p.Leu1064Arg)
c.3116T>G (p.Leu1039Arg)
c.2066T>G (p.Leu689Arg)
c.2090T>G (p.Leu697Arg)
c.2141T>G (p.Leu714Arg)
c.1868T>G (p.Leu623Arg)
c.2192T>G (p.Leu731Arg)
c.2102T>G (p.Leu701Arg)
c.2093T>G (p.Leu698Arg)
gnomAD v4
3g.123291324A>GCA354223782ADCY5c.1793T>C (p.Leu598Pro)
c.2081T>C (p.Leu694Pro)
n.1519T>C
c.3191T>C (p.Leu1064Pro)
c.3116T>C (p.Leu1039Pro)
c.2066T>C (p.Leu689Pro)
c.2090T>C (p.Leu697Pro)
c.2141T>C (p.Leu714Pro)
c.1868T>C (p.Leu623Pro)
c.2192T>C (p.Leu731Pro)
c.2102T>C (p.Leu701Pro)
c.2093T>C (p.Leu698Pro)
3g.123291324A>TCA354223783ADCY5c.1793T>A (p.Leu598Gln)
c.2081T>A (p.Leu694Gln)
n.1519T>A
c.3191T>A (p.Leu1064Gln)
c.3116T>A (p.Leu1039Gln)
c.2066T>A (p.Leu689Gln)
c.2090T>A (p.Leu697Gln)
c.2141T>A (p.Leu714Gln)
c.1868T>A (p.Leu623Gln)
c.2192T>A (p.Leu731Gln)
c.2102T>A (p.Leu701Gln)
c.2093T>A (p.Leu698Gln)
3g.123291325G>ACA435431302ADCY5c.1792C>T (p.Leu598=)
c.2080C>T (p.Leu694=)
n.1518C>T
c.3190C>T (p.Leu1064=)
c.3115C>T (p.Leu1039=)
c.2065C>T (p.Leu689=)
c.2089C>T (p.Leu697=)
c.2140C>T (p.Leu714=)
c.1867C>T (p.Leu623=)
c.2191C>T (p.Leu731=)
c.2101C>T (p.Leu701=)
c.2092C>T (p.Leu698=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.123291325G>CCA354223784ADCY5c.1792C>G (p.Leu598Val)
c.2080C>G (p.Leu694Val)
n.1518C>G
c.3190C>G (p.Leu1064Val)
c.3115C>G (p.Leu1039Val)
c.2065C>G (p.Leu689Val)
c.2089C>G (p.Leu697Val)
c.2140C>G (p.Leu714Val)
c.1867C>G (p.Leu623Val)
c.2191C>G (p.Leu731Val)
c.2101C>G (p.Leu701Val)
c.2092C>G (p.Leu698Val)
3g.123291325G=CA1398330440ADCY5c.1792C= (p.Leu598=)
c.2080C= (p.Leu694=)
n.1518C=
c.3190C= (p.Leu1064=)
c.3115C= (p.Leu1039=)
c.2065C= (p.Leu689=)
c.2089C= (p.Leu697=)
c.2140C= (p.Leu714=)
c.1867C= (p.Leu623=)
c.2191C= (p.Leu731=)
c.2101C= (p.Leu701=)
c.2092C= (p.Leu698=)
3g.123291325G>TCA354223785ADCY5c.1792C>A (p.Leu598Met)
c.2080C>A (p.Leu694Met)
n.1518C>A
c.3190C>A (p.Leu1064Met)
c.3115C>A (p.Leu1039Met)
c.2065C>A (p.Leu689Met)
c.2089C>A (p.Leu697Met)
c.2140C>A (p.Leu714Met)
c.1867C>A (p.Leu623Met)
c.2191C>A (p.Leu731Met)
c.2101C>A (p.Leu701Met)
c.2092C>A (p.Leu698Met)
3g.123291326C>ACA435431304ADCY5c.1791G>T (p.Arg597=)
c.2079G>T (p.Arg693=)
n.1517G>T
c.3189G>T (p.Arg1063=)
c.3114G>T (p.Arg1038=)
c.2064G>T (p.Arg688=)
c.2088G>T (p.Arg696=)
c.2139G>T (p.Arg713=)
c.1866G>T (p.Arg622=)
c.2190G>T (p.Arg730=)
c.2100G>T (p.Arg700=)
c.2091G>T (p.Arg697=)
3g.123291326C>GCA435431305ADCY5c.1791G>C (p.Arg597=)
c.2079G>C (p.Arg693=)
n.1517G>C
c.3189G>C (p.Arg1063=)
c.3114G>C (p.Arg1038=)
c.2064G>C (p.Arg688=)
c.2088G>C (p.Arg696=)
c.2139G>C (p.Arg713=)
c.1866G>C (p.Arg622=)
c.2190G>C (p.Arg730=)
c.2100G>C (p.Arg700=)
c.2091G>C (p.Arg697=)
3g.123291326C>TCA435431306ADCY5c.1791G>A (p.Arg597=)
c.2079G>A (p.Arg693=)
n.1517G>A
c.3189G>A (p.Arg1063=)
c.3114G>A (p.Arg1038=)
c.2064G>A (p.Arg688=)
c.2088G>A (p.Arg696=)
c.2139G>A (p.Arg713=)
c.1866G>A (p.Arg622=)
c.2190G>A (p.Arg730=)
c.2100G>A (p.Arg700=)
c.2091G>A (p.Arg697=)
3g.123291327C>ACA354223786ADCY5c.1790G>T (p.Arg597Leu)
c.2078G>T (p.Arg693Leu)
n.1516G>T
c.3188G>T (p.Arg1063Leu)
c.3113G>T (p.Arg1038Leu)
c.2063G>T (p.Arg688Leu)
c.2087G>T (p.Arg696Leu)
c.2138G>T (p.Arg713Leu)
c.1865G>T (p.Arg622Leu)
c.2189G>T (p.Arg730Leu)
c.2099G>T (p.Arg700Leu)
c.2090G>T (p.Arg697Leu)
3g.123291327C=CA1398330441ADCY5c.1790G= (p.Arg597=)
c.2078G= (p.Arg693=)
n.1516G=
c.3188G= (p.Arg1063=)
c.3113G= (p.Arg1038=)
c.2063G= (p.Arg688=)
c.2087G= (p.Arg696=)
c.2138G= (p.Arg713=)
c.1865G= (p.Arg622=)
c.2189G= (p.Arg730=)
c.2099G= (p.Arg700=)
c.2090G= (p.Arg697=)
3g.123291327C>GCA354223787ADCY5c.1790G>C (p.Arg597Pro)
c.2078G>C (p.Arg693Pro)
n.1516G>C
c.3188G>C (p.Arg1063Pro)
c.3113G>C (p.Arg1038Pro)
c.2063G>C (p.Arg688Pro)
c.2087G>C (p.Arg696Pro)
c.2138G>C (p.Arg713Pro)
c.1865G>C (p.Arg622Pro)
c.2189G>C (p.Arg730Pro)
c.2099G>C (p.Arg700Pro)
c.2090G>C (p.Arg697Pro)
3g.123291327C>TCA354223788ADCY5c.1790G>A (p.Arg597Gln)
c.2078G>A (p.Arg693Gln)
n.1516G>A
c.3188G>A (p.Arg1063Gln)
c.3113G>A (p.Arg1038Gln)
c.2063G>A (p.Arg688Gln)
c.2087G>A (p.Arg696Gln)
c.2138G>A (p.Arg713Gln)
c.1865G>A (p.Arg622Gln)
c.2189G>A (p.Arg730Gln)
c.2099G>A (p.Arg700Gln)
c.2090G>A (p.Arg697Gln)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.123291328G>ACA2576847ADCY5c.1789C>T (p.Arg597Trp)
c.2077C>T (p.Arg693Trp)
n.1515C>T
c.3187C>T (p.Arg1063Trp)
c.3112C>T (p.Arg1038Trp)
c.2062C>T (p.Arg688Trp)
c.2086C>T (p.Arg696Trp)
c.2137C>T (p.Arg713Trp)
c.1864C>T (p.Arg622Trp)
c.2188C>T (p.Arg730Trp)
c.2098C>T (p.Arg700Trp)
c.2089C>T (p.Arg697Trp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.123291328G>CCA354223789ADCY5c.1789C>G (p.Arg597Gly)
c.2077C>G (p.Arg693Gly)
n.1515C>G
c.3187C>G (p.Arg1063Gly)
c.3112C>G (p.Arg1038Gly)
c.2062C>G (p.Arg688Gly)
c.2086C>G (p.Arg696Gly)
c.2137C>G (p.Arg713Gly)
c.1864C>G (p.Arg622Gly)
c.2188C>G (p.Arg730Gly)
c.2098C>G (p.Arg700Gly)
c.2089C>G (p.Arg697Gly)
3g.123291328G=CA1398330442ADCY5c.1789C= (p.Arg597=)
c.2077C= (p.Arg693=)
n.1515C=
c.3187C= (p.Arg1063=)
c.3112C= (p.Arg1038=)
c.2062C= (p.Arg688=)
c.2086C= (p.Arg696=)
c.2137C= (p.Arg713=)
c.1864C= (p.Arg622=)
c.2188C= (p.Arg730=)
c.2098C= (p.Arg700=)
c.2089C= (p.Arg697=)
3g.123291328G>TCA435431310ADCY5c.1789C>A (p.Arg597=)
c.2077C>A (p.Arg693=)
n.1515C>A
c.3187C>A (p.Arg1063=)
c.3112C>A (p.Arg1038=)
c.2062C>A (p.Arg688=)
c.2086C>A (p.Arg696=)
c.2137C>A (p.Arg713=)
c.1864C>A (p.Arg622=)
c.2188C>A (p.Arg730=)
c.2098C>A (p.Arg700=)
c.2089C>A (p.Arg697=)
3g.123291329C>ACA435431312ADCY5c.1788G>T (p.Arg596=)
c.2076G>T (p.Arg692=)
n.1514G>T
c.3186G>T (p.Arg1062=)
c.3111G>T (p.Arg1037=)
c.2061G>T (p.Arg687=)
c.2085G>T (p.Arg695=)
c.2136G>T (p.Arg712=)
c.1863G>T (p.Arg621=)
c.2187G>T (p.Arg729=)
c.2097G>T (p.Arg699=)
c.2088G>T (p.Arg696=)
gnomAD v4
3g.123291329C=CA1398330443ADCY5c.1788G= (p.Arg596=)
c.2076G= (p.Arg692=)
n.1514G=
c.3186G= (p.Arg1062=)
c.3111G= (p.Arg1037=)
c.2061G= (p.Arg687=)
c.2085G= (p.Arg695=)
c.2136G= (p.Arg712=)
c.1863G= (p.Arg621=)
c.2187G= (p.Arg729=)
c.2097G= (p.Arg699=)
c.2088G= (p.Arg696=)
3g.123291329C>GCA435431315ADCY5c.1788G>C (p.Arg596=)
c.2076G>C (p.Arg692=)
n.1514G>C
c.3186G>C (p.Arg1062=)
c.3111G>C (p.Arg1037=)
c.2061G>C (p.Arg687=)
c.2085G>C (p.Arg695=)
c.2136G>C (p.Arg712=)
c.1863G>C (p.Arg621=)
c.2187G>C (p.Arg729=)
c.2097G>C (p.Arg699=)
c.2088G>C (p.Arg696=)
3g.123291329C>TCA2576848ADCY5c.1788G>A (p.Arg596=)
c.2076G>A (p.Arg692=)
n.1514G>A
c.3186G>A (p.Arg1062=)
c.3111G>A (p.Arg1037=)
c.2061G>A (p.Arg687=)
c.2085G>A (p.Arg695=)
c.2136G>A (p.Arg712=)
c.1863G>A (p.Arg621=)
c.2187G>A (p.Arg729=)
c.2097G>A (p.Arg699=)
c.2088G>A (p.Arg696=)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.123291330C>ACA354223791ADCY5c.1787G>T (p.Arg596Leu)
c.2075G>T (p.Arg692Leu)
n.1513G>T
c.3185G>T (p.Arg1062Leu)
c.3110G>T (p.Arg1037Leu)
c.2060G>T (p.Arg687Leu)
c.2084G>T (p.Arg695Leu)
c.2135G>T (p.Arg712Leu)
c.1862G>T (p.Arg621Leu)
c.2186G>T (p.Arg729Leu)
c.2096G>T (p.Arg699Leu)
c.2087G>T (p.Arg696Leu)
3g.123291330C=CA1398330444ADCY5c.1787G= (p.Arg596=)
c.2075G= (p.Arg692=)
n.1513G=
c.3185G= (p.Arg1062=)
c.3110G= (p.Arg1037=)
c.2060G= (p.Arg687=)
c.2084G= (p.Arg695=)
c.2135G= (p.Arg712=)
c.1862G= (p.Arg621=)
c.2186G= (p.Arg729=)
c.2096G= (p.Arg699=)
c.2087G= (p.Arg696=)
3g.123291330C>GCA354223792ADCY5c.1787G>C (p.Arg596Pro)
c.2075G>C (p.Arg692Pro)
n.1513G>C
c.3185G>C (p.Arg1062Pro)
c.3110G>C (p.Arg1037Pro)
c.2060G>C (p.Arg687Pro)
c.2084G>C (p.Arg695Pro)
c.2135G>C (p.Arg712Pro)
c.1862G>C (p.Arg621Pro)
c.2186G>C (p.Arg729Pro)
c.2096G>C (p.Arg699Pro)
c.2087G>C (p.Arg696Pro)
gnomAD v4
3g.123291330C>TCA354223790ADCY5c.1787G>A (p.Arg596Gln)
c.2075G>A (p.Arg692Gln)
n.1513G>A
c.3185G>A (p.Arg1062Gln)
c.3110G>A (p.Arg1037Gln)
c.2060G>A (p.Arg687Gln)
c.2084G>A (p.Arg695Gln)
c.2135G>A (p.Arg712Gln)
c.1862G>A (p.Arg621Gln)
c.2186G>A (p.Arg729Gln)
c.2096G>A (p.Arg699Gln)
c.2087G>A (p.Arg696Gln)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.123291331G>ACA2576849ADCY5c.1786C>T (p.Arg596Trp)
c.2074C>T (p.Arg692Trp)
n.1512C>T
c.3184C>T (p.Arg1062Trp)
c.3109C>T (p.Arg1037Trp)
c.2059C>T (p.Arg687Trp)
c.2083C>T (p.Arg695Trp)
c.2134C>T (p.Arg712Trp)
c.1861C>T (p.Arg621Trp)
c.2185C>T (p.Arg729Trp)
c.2095C>T (p.Arg699Trp)
c.2086C>T (p.Arg696Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.123291331G>CCA354223793ADCY5c.1786C>G (p.Arg596Gly)
c.2074C>G (p.Arg692Gly)
n.1512C>G
c.3184C>G (p.Arg1062Gly)
c.3109C>G (p.Arg1037Gly)
c.2059C>G (p.Arg687Gly)
c.2083C>G (p.Arg695Gly)
c.2134C>G (p.Arg712Gly)
c.1861C>G (p.Arg621Gly)
c.2185C>G (p.Arg729Gly)
c.2095C>G (p.Arg699Gly)
c.2086C>G (p.Arg696Gly)
3g.123291331G=CA1398330445ADCY5c.1786C= (p.Arg596=)
c.2074C= (p.Arg692=)
n.1512C=
c.3184C= (p.Arg1062=)
c.3109C= (p.Arg1037=)
c.2059C= (p.Arg687=)
c.2083C= (p.Arg695=)
c.2134C= (p.Arg712=)
c.1861C= (p.Arg621=)
c.2185C= (p.Arg729=)
c.2095C= (p.Arg699=)
c.2086C= (p.Arg696=)
3g.123291331G>TCA2576850ADCY5c.1786C>A (p.Arg596=)
c.2074C>A (p.Arg692=)
n.1512C>A
c.3184C>A (p.Arg1062=)
c.3109C>A (p.Arg1037=)
c.2059C>A (p.Arg687=)
c.2083C>A (p.Arg695=)
c.2134C>A (p.Arg712=)
c.1861C>A (p.Arg621=)
c.2185C>A (p.Arg729=)
c.2095C>A (p.Arg699=)
c.2086C>A (p.Arg696=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.123291332G>ACA435431321ADCY5c.1785C>T (p.Asn595=)
c.2073C>T (p.Asn691=)
n.1511C>T
c.3183C>T (p.Asn1061=)
c.3108C>T (p.Asn1036=)
c.2058C>T (p.Asn686=)
c.2082C>T (p.Asn694=)
c.2133C>T (p.Asn711=)
c.1860C>T (p.Asn620=)
c.2184C>T (p.Asn728=)
c.2094C>T (p.Asn698=)
c.2085C>T (p.Asn695=)
3g.123291332G>CCA354223794ADCY5c.1785C>G (p.Asn595Lys)
c.2073C>G (p.Asn691Lys)
n.1511C>G
c.3183C>G (p.Asn1061Lys)
c.3108C>G (p.Asn1036Lys)
c.2058C>G (p.Asn686Lys)
c.2082C>G (p.Asn694Lys)
c.2133C>G (p.Asn711Lys)
c.1860C>G (p.Asn620Lys)
c.2184C>G (p.Asn728Lys)
c.2094C>G (p.Asn698Lys)
c.2085C>G (p.Asn695Lys)
3g.123291332G>TCA354223795ADCY5c.1785C>A (p.Asn595Lys)
c.2073C>A (p.Asn691Lys)
n.1511C>A
c.3183C>A (p.Asn1061Lys)
c.3108C>A (p.Asn1036Lys)
c.2058C>A (p.Asn686Lys)
c.2082C>A (p.Asn694Lys)
c.2133C>A (p.Asn711Lys)
c.1860C>A (p.Asn620Lys)
c.2184C>A (p.Asn728Lys)
c.2094C>A (p.Asn698Lys)
c.2085C>A (p.Asn695Lys)
3g.123291333T>ACA354223796ADCY5c.1784A>T (p.Asn595Ile)
c.2072A>T (p.Asn691Ile)
n.1510A>T
c.3182A>T (p.Asn1061Ile)
c.3107A>T (p.Asn1036Ile)
c.2057A>T (p.Asn686Ile)
c.2081A>T (p.Asn694Ile)
c.2132A>T (p.Asn711Ile)
c.1859A>T (p.Asn620Ile)
c.2183A>T (p.Asn728Ile)
c.2093A>T (p.Asn698Ile)
c.2084A>T (p.Asn695Ile)
3g.123291333T>CCA354223797ADCY5c.1784A>G (p.Asn595Ser)
c.2072A>G (p.Asn691Ser)
n.1510A>G
c.3182A>G (p.Asn1061Ser)
c.3107A>G (p.Asn1036Ser)
c.2057A>G (p.Asn686Ser)
c.2081A>G (p.Asn694Ser)
c.2132A>G (p.Asn711Ser)
c.1859A>G (p.Asn620Ser)
c.2183A>G (p.Asn728Ser)
c.2093A>G (p.Asn698Ser)
c.2084A>G (p.Asn695Ser)
3g.123291333T>GCA354223798ADCY5c.1784A>C (p.Asn595Thr)
c.2072A>C (p.Asn691Thr)
n.1510A>C
c.3182A>C (p.Asn1061Thr)
c.3107A>C (p.Asn1036Thr)
c.2057A>C (p.Asn686Thr)
c.2081A>C (p.Asn694Thr)
c.2132A>C (p.Asn711Thr)
c.1859A>C (p.Asn620Thr)
c.2183A>C (p.Asn728Thr)
c.2093A>C (p.Asn698Thr)
c.2084A>C (p.Asn695Thr)
3g.123291334T>ACA354223799ADCY5c.1783A>T (p.Asn595Tyr)
c.2071A>T (p.Asn691Tyr)
n.1509A>T
c.3181A>T (p.Asn1061Tyr)
c.3106A>T (p.Asn1036Tyr)
c.2056A>T (p.Asn686Tyr)
c.2080A>T (p.Asn694Tyr)
c.2131A>T (p.Asn711Tyr)
c.1858A>T (p.Asn620Tyr)
c.2182A>T (p.Asn728Tyr)
c.2092A>T (p.Asn698Tyr)
c.2083A>T (p.Asn695Tyr)
3g.123291334T>CCA354223800ADCY5c.1783A>G (p.Asn595Asp)
c.2071A>G (p.Asn691Asp)
n.1509A>G
c.3181A>G (p.Asn1061Asp)
c.3106A>G (p.Asn1036Asp)
c.2056A>G (p.Asn686Asp)
c.2080A>G (p.Asn694Asp)
c.2131A>G (p.Asn711Asp)
c.1858A>G (p.Asn620Asp)
c.2182A>G (p.Asn728Asp)
c.2092A>G (p.Asn698Asp)
c.2083A>G (p.Asn695Asp)
3g.123291334T>GCA354223801ADCY5c.1783A>C (p.Asn595His)
c.2071A>C (p.Asn691His)
n.1509A>C
c.3181A>C (p.Asn1061His)
c.3106A>C (p.Asn1036His)
c.2056A>C (p.Asn686His)
c.2080A>C (p.Asn694His)
c.2131A>C (p.Asn711His)
c.1858A>C (p.Asn620His)
c.2182A>C (p.Asn728His)
c.2092A>C (p.Asn698His)
c.2083A>C (p.Asn695His)
3g.123291335G>ACA435431328ADCY5c.1782C>T (p.Tyr594=)
c.2070C>T (p.Tyr690=)
n.1508C>T
c.3180C>T (p.Tyr1060=)
c.3105C>T (p.Tyr1035=)
c.2055C>T (p.Tyr685=)
c.2079C>T (p.Tyr693=)
c.2130C>T (p.Tyr710=)
c.1857C>T (p.Tyr619=)
c.2181C>T (p.Tyr727=)
c.2091C>T (p.Tyr697=)
c.2082C>T (p.Tyr694=)
3g.123291335G>CCA354223802ADCY5c.1782C>G (p.Tyr594Ter)
c.2070C>G (p.Tyr690Ter)
n.1508C>G
c.3180C>G (p.Tyr1060Ter)
c.3105C>G (p.Tyr1035Ter)
c.2055C>G (p.Tyr685Ter)
c.2079C>G (p.Tyr693Ter)
c.2130C>G (p.Tyr710Ter)
c.1857C>G (p.Tyr619Ter)
c.2181C>G (p.Tyr727Ter)
c.2091C>G (p.Tyr697Ter)
c.2082C>G (p.Tyr694Ter)
3g.123291335G>TCA354223803ADCY5c.1782C>A (p.Tyr594Ter)
c.2070C>A (p.Tyr690Ter)
n.1508C>A
c.3180C>A (p.Tyr1060Ter)
c.3105C>A (p.Tyr1035Ter)
c.2055C>A (p.Tyr685Ter)
c.2079C>A (p.Tyr693Ter)
c.2130C>A (p.Tyr710Ter)
c.1857C>A (p.Tyr619Ter)
c.2181C>A (p.Tyr727Ter)
c.2091C>A (p.Tyr697Ter)
c.2082C>A (p.Tyr694Ter)
3g.123291336T>ACA354223805ADCY5c.1781A>T (p.Tyr594Phe)
c.2069A>T (p.Tyr690Phe)
n.1507A>T
c.3179A>T (p.Tyr1060Phe)
c.3104A>T (p.Tyr1035Phe)
c.2054A>T (p.Tyr685Phe)
c.2078A>T (p.Tyr693Phe)
c.2129A>T (p.Tyr710Phe)
c.1856A>T (p.Tyr619Phe)
c.2180A>T (p.Tyr727Phe)
c.2090A>T (p.Tyr697Phe)
c.2081A>T (p.Tyr694Phe)
3g.123291336T>CCA354223806ADCY5c.1781A>G (p.Tyr594Cys)
c.2069A>G (p.Tyr690Cys)
n.1507A>G
c.3179A>G (p.Tyr1060Cys)
c.3104A>G (p.Tyr1035Cys)
c.2054A>G (p.Tyr685Cys)
c.2078A>G (p.Tyr693Cys)
c.2129A>G (p.Tyr710Cys)
c.1856A>G (p.Tyr619Cys)
c.2180A>G (p.Tyr727Cys)
c.2090A>G (p.Tyr697Cys)
c.2081A>G (p.Tyr694Cys)
COSMIC
3g.123291336T>GCA354223804ADCY5c.1781A>C (p.Tyr594Ser)
c.2069A>C (p.Tyr690Ser)
n.1507A>C
c.3179A>C (p.Tyr1060Ser)
c.3104A>C (p.Tyr1035Ser)
c.2054A>C (p.Tyr685Ser)
c.2078A>C (p.Tyr693Ser)
c.2129A>C (p.Tyr710Ser)
c.1856A>C (p.Tyr619Ser)
c.2180A>C (p.Tyr727Ser)
c.2090A>C (p.Tyr697Ser)
c.2081A>C (p.Tyr694Ser)
3g.123291337A>CCA354223807ADCY5c.1780T>G (p.Tyr594Asp)
c.2068T>G (p.Tyr690Asp)
n.1506T>G
c.3178T>G (p.Tyr1060Asp)
c.3103T>G (p.Tyr1035Asp)
c.2053T>G (p.Tyr685Asp)
c.2077T>G (p.Tyr693Asp)
c.2128T>G (p.Tyr710Asp)
c.1855T>G (p.Tyr619Asp)
c.2179T>G (p.Tyr727Asp)
c.2089T>G (p.Tyr697Asp)
c.2080T>G (p.Tyr694Asp)
3g.123291337A>GCA354223808ADCY5c.1780T>C (p.Tyr594His)
c.2068T>C (p.Tyr690His)
n.1506T>C
c.3178T>C (p.Tyr1060His)
c.3103T>C (p.Tyr1035His)
c.2053T>C (p.Tyr685His)
c.2077T>C (p.Tyr693His)
c.2128T>C (p.Tyr710His)
c.1855T>C (p.Tyr619His)
c.2179T>C (p.Tyr727His)
c.2089T>C (p.Tyr697His)
c.2080T>C (p.Tyr694His)
3g.123291337A>TCA354223809ADCY5c.1780T>A (p.Tyr594Asn)
c.2068T>A (p.Tyr690Asn)
n.1506T>A
c.3178T>A (p.Tyr1060Asn)
c.3103T>A (p.Tyr1035Asn)
c.2053T>A (p.Tyr685Asn)
c.2077T>A (p.Tyr693Asn)
c.2128T>A (p.Tyr710Asn)
c.1855T>A (p.Tyr619Asn)
c.2179T>A (p.Tyr727Asn)
c.2089T>A (p.Tyr697Asn)
c.2080T>A (p.Tyr694Asn)
3g.123291338G>ACA435431336ADCY5c.1779C>T (p.Ala593=)
c.2067C>T (p.Ala689=)
n.1505C>T
c.3177C>T (p.Ala1059=)
c.3102C>T (p.Ala1034=)
c.2052C>T (p.Ala684=)
c.2076C>T (p.Ala692=)
c.2127C>T (p.Ala709=)
c.1854C>T (p.Ala618=)
c.2178C>T (p.Ala726=)
c.2088C>T (p.Ala696=)
c.2079C>T (p.Ala693=)
gnomAD v4
3g.123291338G>CCA435431335ADCY5c.1779C>G (p.Ala593=)
c.2067C>G (p.Ala689=)
n.1505C>G
c.3177C>G (p.Ala1059=)
c.3102C>G (p.Ala1034=)
c.2052C>G (p.Ala684=)
c.2076C>G (p.Ala692=)
c.2127C>G (p.Ala709=)
c.1854C>G (p.Ala618=)
c.2178C>G (p.Ala726=)
c.2088C>G (p.Ala696=)
c.2079C>G (p.Ala693=)
3g.123291338G>TCA435431334ADCY5c.1779C>A (p.Ala593=)
c.2067C>A (p.Ala689=)
n.1505C>A
c.3177C>A (p.Ala1059=)
c.3102C>A (p.Ala1034=)
c.2052C>A (p.Ala684=)
c.2076C>A (p.Ala692=)
c.2127C>A (p.Ala709=)
c.1854C>A (p.Ala618=)
c.2178C>A (p.Ala726=)
c.2088C>A (p.Ala696=)
c.2079C>A (p.Ala693=)
3g.123291339G>ACA354223810ADCY5c.1778C>T (p.Ala593Val)
c.2066C>T (p.Ala689Val)
n.1504C>T
c.3176C>T (p.Ala1059Val)
c.3101C>T (p.Ala1034Val)
c.2051C>T (p.Ala684Val)
c.2075C>T (p.Ala692Val)
c.2126C>T (p.Ala709Val)
c.1853C>T (p.Ala618Val)
c.2177C>T (p.Ala726Val)
c.2087C>T (p.Ala696Val)
c.2078C>T (p.Ala693Val)
3g.123291339G>CCA354223811ADCY5c.1778C>G (p.Ala593Gly)
c.2066C>G (p.Ala689Gly)
n.1504C>G
c.3176C>G (p.Ala1059Gly)
c.3101C>G (p.Ala1034Gly)
c.2051C>G (p.Ala684Gly)
c.2075C>G (p.Ala692Gly)
c.2126C>G (p.Ala709Gly)
c.1853C>G (p.Ala618Gly)
c.2177C>G (p.Ala726Gly)
c.2087C>G (p.Ala696Gly)
c.2078C>G (p.Ala693Gly)
3g.123291339G>TCA354223812ADCY5c.1778C>A (p.Ala593Asp)
c.2066C>A (p.Ala689Asp)
n.1504C>A
c.3176C>A (p.Ala1059Asp)
c.3101C>A (p.Ala1034Asp)
c.2051C>A (p.Ala684Asp)
c.2075C>A (p.Ala692Asp)
c.2126C>A (p.Ala709Asp)
c.1853C>A (p.Ala618Asp)
c.2177C>A (p.Ala726Asp)
c.2087C>A (p.Ala696Asp)
c.2078C>A (p.Ala693Asp)
3g.123291340C>ACA354223814ADCY5c.1777G>T (p.Ala593Ser)
c.2065G>T (p.Ala689Ser)
n.1503G>T
c.3175G>T (p.Ala1059Ser)
c.3100G>T (p.Ala1034Ser)
c.2050G>T (p.Ala684Ser)
c.2074G>T (p.Ala692Ser)
c.2125G>T (p.Ala709Ser)
c.1852G>T (p.Ala618Ser)
c.2176G>T (p.Ala726Ser)
c.2086G>T (p.Ala696Ser)
c.2077G>T (p.Ala693Ser)
3g.123291340C=CA1398330446ADCY5c.1777G= (p.Ala593=)
c.2065G= (p.Ala689=)
n.1503G=
c.3175G= (p.Ala1059=)
c.3100G= (p.Ala1034=)
c.2050G= (p.Ala684=)
c.2074G= (p.Ala692=)
c.2125G= (p.Ala709=)
c.1852G= (p.Ala618=)
c.2176G= (p.Ala726=)
c.2086G= (p.Ala696=)
c.2077G= (p.Ala693=)
3g.123291340C>GCA2576851ADCY5c.1777G>C (p.Ala593Pro)
c.2065G>C (p.Ala689Pro)
n.1503G>C
c.3175G>C (p.Ala1059Pro)
c.3100G>C (p.Ala1034Pro)
c.2050G>C (p.Ala684Pro)
c.2074G>C (p.Ala692Pro)
c.2125G>C (p.Ala709Pro)
c.1852G>C (p.Ala618Pro)
c.2176G>C (p.Ala726Pro)
c.2086G>C (p.Ala696Pro)
c.2077G>C (p.Ala693Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.123291340C>TCA354223813ADCY5c.1777G>A (p.Ala593Thr)
c.2065G>A (p.Ala689Thr)
n.1503G>A
c.3175G>A (p.Ala1059Thr)
c.3100G>A (p.Ala1034Thr)
c.2050G>A (p.Ala684Thr)
c.2074G>A (p.Ala692Thr)
c.2125G>A (p.Ala709Thr)
c.1852G>A (p.Ala618Thr)
c.2176G>A (p.Ala726Thr)
c.2086G>A (p.Ala696Thr)
c.2077G>A (p.Ala693Thr)
3g.123291341C>ACA354223815ADCY5c.1776G>T (p.Gln592His)
c.2064G>T (p.Gln688His)
n.1502G>T
c.3174G>T (p.Gln1058His)
c.3099G>T (p.Gln1033His)
c.2049G>T (p.Gln683His)
c.2073G>T (p.Gln691His)
c.2124G>T (p.Gln708His)
c.1851G>T (p.Gln617His)
c.2175G>T (p.Gln725His)
c.2085G>T (p.Gln695His)
c.2076G>T (p.Gln692His)
ClinVar dbSNP
3g.123291341C>GCA354223816ADCY5c.1776G>C (p.Gln592His)
c.2064G>C (p.Gln688His)
n.1502G>C
c.3174G>C (p.Gln1058His)
c.3099G>C (p.Gln1033His)
c.2049G>C (p.Gln683His)
c.2073G>C (p.Gln691His)
c.2124G>C (p.Gln708His)
c.1851G>C (p.Gln617His)
c.2175G>C (p.Gln725His)
c.2085G>C (p.Gln695His)
c.2076G>C (p.Gln692His)
3g.123291341C>TCA435431338ADCY5c.1776G>A (p.Gln592=)
c.2064G>A (p.Gln688=)
n.1502G>A
c.3174G>A (p.Gln1058=)
c.3099G>A (p.Gln1033=)
c.2049G>A (p.Gln683=)
c.2073G>A (p.Gln691=)
c.2124G>A (p.Gln708=)
c.1851G>A (p.Gln617=)
c.2175G>A (p.Gln725=)
c.2085G>A (p.Gln695=)
c.2076G>A (p.Gln692=)
3g.123291342T>ACA354223817ADCY5c.1775A>T (p.Gln592Leu)
c.2063A>T (p.Gln688Leu)
n.1501A>T
c.3173A>T (p.Gln1058Leu)
c.3098A>T (p.Gln1033Leu)
c.2048A>T (p.Gln683Leu)
c.2072A>T (p.Gln691Leu)
c.2123A>T (p.Gln708Leu)
c.1850A>T (p.Gln617Leu)
c.2174A>T (p.Gln725Leu)
c.2084A>T (p.Gln695Leu)
c.2075A>T (p.Gln692Leu)
3g.123291342T>CCA354223818ADCY5c.1775A>G (p.Gln592Arg)
c.2063A>G (p.Gln688Arg)
n.1501A>G
c.3173A>G (p.Gln1058Arg)
c.3098A>G (p.Gln1033Arg)
c.2048A>G (p.Gln683Arg)
c.2072A>G (p.Gln691Arg)
c.2123A>G (p.Gln708Arg)
c.1850A>G (p.Gln617Arg)
c.2174A>G (p.Gln725Arg)
c.2084A>G (p.Gln695Arg)
c.2075A>G (p.Gln692Arg)
3g.123291342T>GCA354223819ADCY5c.1775A>C (p.Gln592Pro)
c.2063A>C (p.Gln688Pro)
n.1501A>C
c.3173A>C (p.Gln1058Pro)
c.3098A>C (p.Gln1033Pro)
c.2048A>C (p.Gln683Pro)
c.2072A>C (p.Gln691Pro)
c.2123A>C (p.Gln708Pro)
c.1850A>C (p.Gln617Pro)
c.2174A>C (p.Gln725Pro)
c.2084A>C (p.Gln695Pro)
c.2075A>C (p.Gln692Pro)
3g.123291343G>ACA354223821ADCY5c.1774C>T (p.Gln592Ter)
c.2062C>T (p.Gln688Ter)
n.1500C>T
c.3172C>T (p.Gln1058Ter)
c.3097C>T (p.Gln1033Ter)
c.2047C>T (p.Gln683Ter)
c.2071C>T (p.Gln691Ter)
c.2122C>T (p.Gln708Ter)
c.1849C>T (p.Gln617Ter)
c.2173C>T (p.Gln725Ter)
c.2083C>T (p.Gln695Ter)
c.2074C>T (p.Gln692Ter)
dbSNP
3g.123291343G>CCA82904161ADCY5c.1774C>G (p.Gln592Glu)
c.2062C>G (p.Gln688Glu)
n.1500C>G
c.3172C>G (p.Gln1058Glu)
c.3097C>G (p.Gln1033Glu)
c.2047C>G (p.Gln683Glu)
c.2071C>G (p.Gln691Glu)
c.2122C>G (p.Gln708Glu)
c.1849C>G (p.Gln617Glu)
c.2173C>G (p.Gln725Glu)
c.2083C>G (p.Gln695Glu)
c.2074C>G (p.Gln692Glu)
dbSNP
3g.123291343G=CA1398330447ADCY5c.1774C= (p.Gln592=)
c.2062C= (p.Gln688=)
n.1500C=
c.3172C= (p.Gln1058=)
c.3097C= (p.Gln1033=)
c.2047C= (p.Gln683=)
c.2071C= (p.Gln691=)
c.2122C= (p.Gln708=)
c.1849C= (p.Gln617=)
c.2173C= (p.Gln725=)
c.2083C= (p.Gln695=)
c.2074C= (p.Gln692=)
3g.123291343G>TCA354223820ADCY5c.1774C>A (p.Gln592Lys)
c.2062C>A (p.Gln688Lys)
n.1500C>A
c.3172C>A (p.Gln1058Lys)
c.3097C>A (p.Gln1033Lys)
c.2047C>A (p.Gln683Lys)
c.2071C>A (p.Gln691Lys)
c.2122C>A (p.Gln708Lys)
c.1849C>A (p.Gln617Lys)
c.2173C>A (p.Gln725Lys)
c.2083C>A (p.Gln695Lys)
c.2074C>A (p.Gln692Lys)
3g.123291344C>ACA435431340ADCY5c.1773G>T (p.Leu591=)
c.2061G>T (p.Leu687=)
n.1499G>T
c.3171G>T (p.Leu1057=)
c.3096G>T (p.Leu1032=)
c.2046G>T (p.Leu682=)
c.2070G>T (p.Leu690=)
c.2121G>T (p.Leu707=)
c.1848G>T (p.Leu616=)
c.2172G>T (p.Leu724=)
c.2082G>T (p.Leu694=)
c.2073G>T (p.Leu691=)
3g.123291344C=CA1398330448ADCY5c.1773G= (p.Leu591=)
c.2061G= (p.Leu687=)
n.1499G=
c.3171G= (p.Leu1057=)
c.3096G= (p.Leu1032=)
c.2046G= (p.Leu682=)
c.2070G= (p.Leu690=)
c.2121G= (p.Leu707=)
c.1848G= (p.Leu616=)
c.2172G= (p.Leu724=)
c.2082G= (p.Leu694=)
c.2073G= (p.Leu691=)
3g.123291344C>GCA435431342ADCY5c.1773G>C (p.Leu591=)
c.2061G>C (p.Leu687=)
n.1499G>C
c.3171G>C (p.Leu1057=)
c.3096G>C (p.Leu1032=)
c.2046G>C (p.Leu682=)
c.2070G>C (p.Leu690=)
c.2121G>C (p.Leu707=)
c.1848G>C (p.Leu616=)
c.2172G>C (p.Leu724=)
c.2082G>C (p.Leu694=)
c.2073G>C (p.Leu691=)
3g.123291344C>TCA435431341ADCY5c.1773G>A (p.Leu591=)
c.2061G>A (p.Leu687=)
n.1499G>A
c.3171G>A (p.Leu1057=)
c.3096G>A (p.Leu1032=)
c.2046G>A (p.Leu682=)
c.2070G>A (p.Leu690=)
c.2121G>A (p.Leu707=)
c.1848G>A (p.Leu616=)
c.2172G>A (p.Leu724=)
c.2082G>A (p.Leu694=)
c.2073G>A (p.Leu691=)
dbSNP
3g.123291345A>CCA354223822ADCY5c.1772T>G (p.Leu591Arg)
c.2060T>G (p.Leu687Arg)
n.1498T>G
c.3170T>G (p.Leu1057Arg)
c.3095T>G (p.Leu1032Arg)
c.2045T>G (p.Leu682Arg)
c.2069T>G (p.Leu690Arg)
c.2120T>G (p.Leu707Arg)
c.1847T>G (p.Leu616Arg)
c.2171T>G (p.Leu724Arg)
c.2081T>G (p.Leu694Arg)
c.2072T>G (p.Leu691Arg)
3g.123291345A>GCA354223824ADCY5c.1772T>C (p.Leu591Pro)
c.2060T>C (p.Leu687Pro)
n.1498T>C
c.3170T>C (p.Leu1057Pro)
c.3095T>C (p.Leu1032Pro)
c.2045T>C (p.Leu682Pro)
c.2069T>C (p.Leu690Pro)
c.2120T>C (p.Leu707Pro)
c.1847T>C (p.Leu616Pro)
c.2171T>C (p.Leu724Pro)
c.2081T>C (p.Leu694Pro)
c.2072T>C (p.Leu691Pro)
3g.123291345A>TCA354223823ADCY5c.1772T>A (p.Leu591Gln)
c.2060T>A (p.Leu687Gln)
n.1498T>A
c.3170T>A (p.Leu1057Gln)
c.3095T>A (p.Leu1032Gln)
c.2045T>A (p.Leu682Gln)
c.2069T>A (p.Leu690Gln)
c.2120T>A (p.Leu707Gln)
c.1847T>A (p.Leu616Gln)
c.2171T>A (p.Leu724Gln)
c.2081T>A (p.Leu694Gln)
c.2072T>A (p.Leu691Gln)
3g.123291346G>ACA435431343ADCY5c.1771C>T (p.Leu591=)
c.2059C>T (p.Leu687=)
n.1497C>T
c.3169C>T (p.Leu1057=)
c.3094C>T (p.Leu1032=)
c.2044C>T (p.Leu682=)
c.2068C>T (p.Leu690=)
c.2119C>T (p.Leu707=)
c.1846C>T (p.Leu616=)
c.2170C>T (p.Leu724=)
c.2080C>T (p.Leu694=)
c.2071C>T (p.Leu691=)
dbSNP gnomAD v3 gnomAD v4
3g.123291346G>CCA354223825ADCY5c.1771C>G (p.Leu591Val)
c.2059C>G (p.Leu687Val)
n.1497C>G
c.3169C>G (p.Leu1057Val)
c.3094C>G (p.Leu1032Val)
c.2044C>G (p.Leu682Val)
c.2068C>G (p.Leu690Val)
c.2119C>G (p.Leu707Val)
c.1846C>G (p.Leu616Val)
c.2170C>G (p.Leu724Val)
c.2080C>G (p.Leu694Val)
c.2071C>G (p.Leu691Val)
3g.123291346G=CA1398330449ADCY5c.1771C= (p.Leu591=)
c.2059C= (p.Leu687=)
n.1497C=
c.3169C= (p.Leu1057=)
c.3094C= (p.Leu1032=)
c.2044C= (p.Leu682=)
c.2068C= (p.Leu690=)
c.2119C= (p.Leu707=)
c.1846C= (p.Leu616=)
c.2170C= (p.Leu724=)
c.2080C= (p.Leu694=)
c.2071C= (p.Leu691=)
3g.123291346G>TCA82904171ADCY5c.1771C>A (p.Leu591Met)
c.2059C>A (p.Leu687Met)
n.1497C>A
c.3169C>A (p.Leu1057Met)
c.3094C>A (p.Leu1032Met)
c.2044C>A (p.Leu682Met)
c.2068C>A (p.Leu690Met)
c.2119C>A (p.Leu707Met)
c.1846C>A (p.Leu616Met)
c.2170C>A (p.Leu724Met)
c.2080C>A (p.Leu694Met)
c.2071C>A (p.Leu691Met)
dbSNP COSMIC
3g.123291347C>ACA354223826ADCY5c.1770G>T (p.Glu590Asp)
c.2058G>T (p.Glu686Asp)
n.1496G>T
c.3168G>T (p.Glu1056Asp)
c.3093G>T (p.Glu1031Asp)
c.2043G>T (p.Glu681Asp)
c.2067G>T (p.Glu689Asp)
c.2118G>T (p.Glu706Asp)
c.1845G>T (p.Glu615Asp)
c.2169G>T (p.Glu723Asp)
c.2079G>T (p.Glu693Asp)
c.2070G>T (p.Glu690Asp)
3g.123291347C>GCA354223827ADCY5c.1770G>C (p.Glu590Asp)
c.2058G>C (p.Glu686Asp)
n.1496G>C
c.3168G>C (p.Glu1056Asp)
c.3093G>C (p.Glu1031Asp)
c.2043G>C (p.Glu681Asp)
c.2067G>C (p.Glu689Asp)
c.2118G>C (p.Glu706Asp)
c.1845G>C (p.Glu615Asp)
c.2169G>C (p.Glu723Asp)
c.2079G>C (p.Glu693Asp)
c.2070G>C (p.Glu690Asp)
gnomAD v4
3g.123291347C>TCA435431348ADCY5c.1770G>A (p.Glu590=)
c.2058G>A (p.Glu686=)
n.1496G>A
c.3168G>A (p.Glu1056=)
c.3093G>A (p.Glu1031=)
c.2043G>A (p.Glu681=)
c.2067G>A (p.Glu689=)
c.2118G>A (p.Glu706=)
c.1845G>A (p.Glu615=)
c.2169G>A (p.Glu723=)
c.2079G>A (p.Glu693=)
c.2070G>A (p.Glu690=)
3g.123291348T>ACA354223828ADCY5c.1769A>T (p.Glu590Val)
c.2057A>T (p.Glu686Val)
n.1495A>T
c.3167A>T (p.Glu1056Val)
c.3092A>T (p.Glu1031Val)
c.2042A>T (p.Glu681Val)
c.2066A>T (p.Glu689Val)
c.2117A>T (p.Glu706Val)
c.1844A>T (p.Glu615Val)
c.2168A>T (p.Glu723Val)
c.2078A>T (p.Glu693Val)
c.2069A>T (p.Glu690Val)
3g.123291348T>CCA354223830ADCY5c.1769A>G (p.Glu590Gly)
c.2057A>G (p.Glu686Gly)
n.1495A>G
c.3167A>G (p.Glu1056Gly)
c.3092A>G (p.Glu1031Gly)
c.2042A>G (p.Glu681Gly)
c.2066A>G (p.Glu689Gly)
c.2117A>G (p.Glu706Gly)
c.1844A>G (p.Glu615Gly)
c.2168A>G (p.Glu723Gly)
c.2078A>G (p.Glu693Gly)
c.2069A>G (p.Glu690Gly)
3g.123291348T>GCA354223829ADCY5c.1769A>C (p.Glu590Ala)
c.2057A>C (p.Glu686Ala)
n.1495A>C
c.3167A>C (p.Glu1056Ala)
c.3092A>C (p.Glu1031Ala)
c.2042A>C (p.Glu681Ala)
c.2066A>C (p.Glu689Ala)
c.2117A>C (p.Glu706Ala)
c.1844A>C (p.Glu615Ala)
c.2168A>C (p.Glu723Ala)
c.2078A>C (p.Glu693Ala)
c.2069A>C (p.Glu690Ala)
3g.123291349C>ACA354223831ADCY5c.1768G>T (p.Glu590Ter)
c.2056G>T (p.Glu686Ter)
n.1494G>T
c.3166G>T (p.Glu1056Ter)
c.3091G>T (p.Glu1031Ter)
c.2041G>T (p.Glu681Ter)
c.2065G>T (p.Glu689Ter)
c.2116G>T (p.Glu706Ter)
c.1843G>T (p.Glu615Ter)
c.2167G>T (p.Glu723Ter)
c.2077G>T (p.Glu693Ter)
c.2068G>T (p.Glu690Ter)
dbSNP
3g.123291349C=CA1398330450ADCY5c.1768G= (p.Glu590=)
c.2056G= (p.Glu686=)
n.1494G=
c.3166G= (p.Glu1056=)
c.3091G= (p.Glu1031=)
c.2041G= (p.Glu681=)
c.2065G= (p.Glu689=)
c.2116G= (p.Glu706=)
c.1843G= (p.Glu615=)
c.2167G= (p.Glu723=)
c.2077G= (p.Glu693=)
c.2068G= (p.Glu690=)
3g.123291349C>GCA354223832ADCY5c.1768G>C (p.Glu590Gln)
c.2056G>C (p.Glu686Gln)
n.1494G>C
c.3166G>C (p.Glu1056Gln)
c.3091G>C (p.Glu1031Gln)
c.2041G>C (p.Glu681Gln)
c.2065G>C (p.Glu689Gln)
c.2116G>C (p.Glu706Gln)
c.1843G>C (p.Glu615Gln)
c.2167G>C (p.Glu723Gln)
c.2077G>C (p.Glu693Gln)
c.2068G>C (p.Glu690Gln)
3g.123291349C>TCA354223833ADCY5c.1768G>A (p.Glu590Lys)
c.2056G>A (p.Glu686Lys)
n.1494G>A
c.3166G>A (p.Glu1056Lys)
c.3091G>A (p.Glu1031Lys)
c.2041G>A (p.Glu681Lys)
c.2065G>A (p.Glu689Lys)
c.2116G>A (p.Glu706Lys)
c.1843G>A (p.Glu615Lys)
c.2167G>A (p.Glu723Lys)
c.2077G>A (p.Glu693Lys)
c.2068G>A (p.Glu690Lys)
COSMIC
3g.123291350C>ACA354223834ADCY5c.1767G>T (p.Glu589Asp)
c.2055G>T (p.Glu685Asp)
n.1493G>T
c.3165G>T (p.Glu1055Asp)
c.3090G>T (p.Glu1030Asp)
c.2040G>T (p.Glu680Asp)
c.2064G>T (p.Glu688Asp)
c.2115G>T (p.Glu705Asp)
c.1842G>T (p.Glu614Asp)
c.2166G>T (p.Glu722Asp)
c.2076G>T (p.Glu692Asp)
c.2067G>T (p.Glu689Asp)
3g.123291350C>GCA354223835ADCY5c.1767G>C (p.Glu589Asp)
c.2055G>C (p.Glu685Asp)
n.1493G>C
c.3165G>C (p.Glu1055Asp)
c.3090G>C (p.Glu1030Asp)
c.2040G>C (p.Glu680Asp)
c.2064G>C (p.Glu688Asp)
c.2115G>C (p.Glu705Asp)
c.1842G>C (p.Glu614Asp)
c.2166G>C (p.Glu722Asp)
c.2076G>C (p.Glu692Asp)
c.2067G>C (p.Glu689Asp)
3g.123291350C>TCA435431356ADCY5c.1767G>A (p.Glu589=)
c.2055G>A (p.Glu685=)
n.1493G>A
c.3165G>A (p.Glu1055=)
c.3090G>A (p.Glu1030=)
c.2040G>A (p.Glu680=)
c.2064G>A (p.Glu688=)
c.2115G>A (p.Glu705=)
c.1842G>A (p.Glu614=)
c.2166G>A (p.Glu722=)
c.2076G>A (p.Glu692=)
c.2067G>A (p.Glu689=)
3g.123291351T>ACA354223838ADCY5c.1766A>T (p.Glu589Val)
c.2054A>T (p.Glu685Val)
n.1492A>T
c.3164A>T (p.Glu1055Val)
c.3089A>T (p.Glu1030Val)
c.2039A>T (p.Glu680Val)
c.2063A>T (p.Glu688Val)
c.2114A>T (p.Glu705Val)
c.1841A>T (p.Glu614Val)
c.2165A>T (p.Glu722Val)
c.2075A>T (p.Glu692Val)
c.2066A>T (p.Glu689Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.123291351T>CCA354223837ADCY5c.1766A>G (p.Glu589Gly)
c.2054A>G (p.Glu685Gly)
n.1492A>G
c.3164A>G (p.Glu1055Gly)
c.3089A>G (p.Glu1030Gly)
c.2039A>G (p.Glu680Gly)
c.2063A>G (p.Glu688Gly)
c.2114A>G (p.Glu705Gly)
c.1841A>G (p.Glu614Gly)
c.2165A>G (p.Glu722Gly)
c.2075A>G (p.Glu692Gly)
c.2066A>G (p.Glu689Gly)
3g.123291351T>GCA354223836ADCY5c.1766A>C (p.Glu589Ala)
c.2054A>C (p.Glu685Ala)
n.1492A>C
c.3164A>C (p.Glu1055Ala)
c.3089A>C (p.Glu1030Ala)
c.2039A>C (p.Glu680Ala)
c.2063A>C (p.Glu688Ala)
c.2114A>C (p.Glu705Ala)
c.1841A>C (p.Glu614Ala)
c.2165A>C (p.Glu722Ala)
c.2075A>C (p.Glu692Ala)
c.2066A>C (p.Glu689Ala)
3g.123291351T=CA1398330451ADCY5c.1766A= (p.Glu589=)
c.2054A= (p.Glu685=)
n.1492A=
c.3164A= (p.Glu1055=)
c.3089A= (p.Glu1030=)
c.2039A= (p.Glu680=)
c.2063A= (p.Glu688=)
c.2114A= (p.Glu705=)
c.1841A= (p.Glu614=)
c.2165A= (p.Glu722=)
c.2075A= (p.Glu692=)
c.2066A= (p.Glu689=)
3g.123291352C>ACA354223839ADCY5c.1765G>T (p.Glu589Ter)
c.2053G>T (p.Glu685Ter)
n.1491G>T
c.3163G>T (p.Glu1055Ter)
c.3088G>T (p.Glu1030Ter)
c.2038G>T (p.Glu680Ter)
c.2062G>T (p.Glu688Ter)
c.2113G>T (p.Glu705Ter)
c.1840G>T (p.Glu614Ter)
c.2164G>T (p.Glu722Ter)
c.2074G>T (p.Glu692Ter)
c.2065G>T (p.Glu689Ter)
dbSNP
3g.123291352C=CA1398330452ADCY5c.1765G= (p.Glu589=)
c.2053G= (p.Glu685=)
n.1491G=
c.3163G= (p.Glu1055=)
c.3088G= (p.Glu1030=)
c.2038G= (p.Glu680=)
c.2062G= (p.Glu688=)
c.2113G= (p.Glu705=)
c.1840G= (p.Glu614=)
c.2164G= (p.Glu722=)
c.2074G= (p.Glu692=)
c.2065G= (p.Glu689=)
3g.123291352C>GCA354223840ADCY5c.1765G>C (p.Glu589Gln)
c.2053G>C (p.Glu685Gln)
n.1491G>C
c.3163G>C (p.Glu1055Gln)
c.3088G>C (p.Glu1030Gln)
c.2038G>C (p.Glu680Gln)
c.2062G>C (p.Glu688Gln)
c.2113G>C (p.Glu705Gln)
c.1840G>C (p.Glu614Gln)
c.2164G>C (p.Glu722Gln)
c.2074G>C (p.Glu692Gln)
c.2065G>C (p.Glu689Gln)
3g.123291352C>TCA354223841ADCY5c.1765G>A (p.Glu589Lys)
c.2053G>A (p.Glu685Lys)
n.1491G>A
c.3163G>A (p.Glu1055Lys)
c.3088G>A (p.Glu1030Lys)
c.2038G>A (p.Glu680Lys)
c.2062G>A (p.Glu688Lys)
c.2113G>A (p.Glu705Lys)
c.1840G>A (p.Glu614Lys)
c.2164G>A (p.Glu722Lys)
c.2074G>A (p.Glu692Lys)
c.2065G>A (p.Glu689Lys)
COSMIC
3g.123291353C>ACA354223842ADCY5c.1764G>T (p.Met588Ile)
c.2052G>T (p.Met684Ile)
n.1490G>T
c.3162G>T (p.Met1054Ile)
c.3087G>T (p.Met1029Ile)
c.2037G>T (p.Met679Ile)
c.2061G>T (p.Met687Ile)
c.2112G>T (p.Met704Ile)
c.1839G>T (p.Met613Ile)
c.2163G>T (p.Met721Ile)
c.2073G>T (p.Met691Ile)
c.2064G>T (p.Met688Ile)
3g.123291353C>GCA354223843ADCY5c.1764G>C (p.Met588Ile)
c.2052G>C (p.Met684Ile)
n.1490G>C
c.3162G>C (p.Met1054Ile)
c.3087G>C (p.Met1029Ile)
c.2037G>C (p.Met679Ile)
c.2061G>C (p.Met687Ile)
c.2112G>C (p.Met704Ile)
c.1839G>C (p.Met613Ile)
c.2163G>C (p.Met721Ile)
c.2073G>C (p.Met691Ile)
c.2064G>C (p.Met688Ile)
3g.123291353C>TCA354223844ADCY5c.1764G>A (p.Met588Ile)
c.2052G>A (p.Met684Ile)
n.1490G>A
c.3162G>A (p.Met1054Ile)
c.3087G>A (p.Met1029Ile)
c.2037G>A (p.Met679Ile)
c.2061G>A (p.Met687Ile)
c.2112G>A (p.Met704Ile)
c.1839G>A (p.Met613Ile)
c.2163G>A (p.Met721Ile)
c.2073G>A (p.Met691Ile)
c.2064G>A (p.Met688Ile)
3g.123291354A=CA1398330453ADCY5c.1763T= (p.Met588=)
c.2051T= (p.Met684=)
n.1489T=
c.3161T= (p.Met1054=)
c.3086T= (p.Met1029=)
c.2036T= (p.Met679=)
c.2060T= (p.Met687=)
c.2111T= (p.Met704=)
c.1838T= (p.Met613=)
c.2162T= (p.Met721=)
c.2072T= (p.Met691=)
c.2063T= (p.Met688=)
3g.123291354A>CCA354223846ADCY5c.1763T>G (p.Met588Arg)
c.2051T>G (p.Met684Arg)
n.1489T>G
c.3161T>G (p.Met1054Arg)
c.3086T>G (p.Met1029Arg)
c.2036T>G (p.Met679Arg)
c.2060T>G (p.Met687Arg)
c.2111T>G (p.Met704Arg)
c.1838T>G (p.Met613Arg)
c.2162T>G (p.Met721Arg)
c.2072T>G (p.Met691Arg)
c.2063T>G (p.Met688Arg)
ClinVar
3g.123291354A>GCA354223845ADCY5c.1763T>C (p.Met588Thr)
c.2051T>C (p.Met684Thr)
n.1489T>C
c.3161T>C (p.Met1054Thr)
c.3086T>C (p.Met1029Thr)
c.2036T>C (p.Met679Thr)
c.2060T>C (p.Met687Thr)
c.2111T>C (p.Met704Thr)
c.1838T>C (p.Met613Thr)
c.2162T>C (p.Met721Thr)
c.2072T>C (p.Met691Thr)
c.2063T>C (p.Met688Thr)
3g.123291354A>TCA347742ADCY5c.1763T>A (p.Met588Lys)
c.2051T>A (p.Met684Lys)
n.1489T>A
c.3161T>A (p.Met1054Lys)
c.3086T>A (p.Met1029Lys)
c.2036T>A (p.Met679Lys)
c.2060T>A (p.Met687Lys)
c.2111T>A (p.Met704Lys)
c.1838T>A (p.Met613Lys)
c.2162T>A (p.Met721Lys)
c.2072T>A (p.Met691Lys)
c.2063T>A (p.Met688Lys)
ClinVar dbSNP
3g.123291355T>ACA354223847ADCY5c.1762A>T (p.Met588Leu)
c.2050A>T (p.Met684Leu)
n.1488A>T
c.3160A>T (p.Met1054Leu)
c.3085A>T (p.Met1029Leu)
c.2035A>T (p.Met679Leu)
c.2059A>T (p.Met687Leu)
c.2110A>T (p.Met704Leu)
c.1837A>T (p.Met613Leu)
c.2161A>T (p.Met721Leu)
c.2071A>T (p.Met691Leu)
c.2062A>T (p.Met688Leu)
3g.123291355T>CCA354223848ADCY5c.1762A>G (p.Met588Val)
c.2050A>G (p.Met684Val)
n.1488A>G
c.3160A>G (p.Met1054Val)
c.3085A>G (p.Met1029Val)
c.2035A>G (p.Met679Val)
c.2059A>G (p.Met687Val)
c.2110A>G (p.Met704Val)
c.1837A>G (p.Met613Val)
c.2161A>G (p.Met721Val)
c.2071A>G (p.Met691Val)
c.2062A>G (p.Met688Val)
3g.123291355T>GCA354223849ADCY5c.1762A>C (p.Met588Leu)
c.2050A>C (p.Met684Leu)
n.1488A>C
c.3160A>C (p.Met1054Leu)
c.3085A>C (p.Met1029Leu)
c.2035A>C (p.Met679Leu)
c.2059A>C (p.Met687Leu)
c.2110A>C (p.Met704Leu)
c.1837A>C (p.Met613Leu)
c.2161A>C (p.Met721Leu)
c.2071A>C (p.Met691Leu)
c.2062A>C (p.Met688Leu)
3g.123291356C>ACA354223850ADCY5c.1761G>T (p.Glu587Asp)
c.2049G>T (p.Glu683Asp)
n.1487G>T
c.3159G>T (p.Glu1053Asp)
c.3084G>T (p.Glu1028Asp)
c.2034G>T (p.Glu678Asp)
c.2058G>T (p.Glu686Asp)
c.2109G>T (p.Glu703Asp)
c.1836G>T (p.Glu612Asp)
c.2160G>T (p.Glu720Asp)
c.2070G>T (p.Glu690Asp)
c.2061G>T (p.Glu687Asp)
COSMIC
3g.123291356C>GCA354223851ADCY5c.1761G>C (p.Glu587Asp)
c.2049G>C (p.Glu683Asp)
n.1487G>C
c.3159G>C (p.Glu1053Asp)
c.3084G>C (p.Glu1028Asp)
c.2034G>C (p.Glu678Asp)
c.2058G>C (p.Glu686Asp)
c.2109G>C (p.Glu703Asp)
c.1836G>C (p.Glu612Asp)
c.2160G>C (p.Glu720Asp)
c.2070G>C (p.Glu690Asp)
c.2061G>C (p.Glu687Asp)
3g.123291356C>TCA435431363ADCY5c.1761G>A (p.Glu587=)
c.2049G>A (p.Glu683=)
n.1487G>A
c.3159G>A (p.Glu1053=)
c.3084G>A (p.Glu1028=)
c.2034G>A (p.Glu678=)
c.2058G>A (p.Glu686=)
c.2109G>A (p.Glu703=)
c.1836G>A (p.Glu612=)
c.2160G>A (p.Glu720=)
c.2070G>A (p.Glu690=)
c.2061G>A (p.Glu687=)
3g.123291357T>ACA354223852ADCY5c.1760A>T (p.Glu587Val)
c.2048A>T (p.Glu683Val)
n.1486A>T
c.3158A>T (p.Glu1053Val)
c.3083A>T (p.Glu1028Val)
c.2033A>T (p.Glu678Val)
c.2057A>T (p.Glu686Val)
c.2108A>T (p.Glu703Val)
c.1835A>T (p.Glu612Val)
c.2159A>T (p.Glu720Val)
c.2069A>T (p.Glu690Val)
c.2060A>T (p.Glu687Val)
3g.123291357T>CCA354223853ADCY5c.1760A>G (p.Glu587Gly)
c.2048A>G (p.Glu683Gly)
n.1486A>G
c.3158A>G (p.Glu1053Gly)
c.3083A>G (p.Glu1028Gly)
c.2033A>G (p.Glu678Gly)
c.2057A>G (p.Glu686Gly)
c.2108A>G (p.Glu703Gly)
c.1835A>G (p.Glu612Gly)
c.2159A>G (p.Glu720Gly)
c.2069A>G (p.Glu690Gly)
c.2060A>G (p.Glu687Gly)
3g.123291357T>GCA354223854ADCY5c.1760A>C (p.Glu587Ala)
c.2048A>C (p.Glu683Ala)
n.1486A>C
c.3158A>C (p.Glu1053Ala)
c.3083A>C (p.Glu1028Ala)
c.2033A>C (p.Glu678Ala)
c.2057A>C (p.Glu686Ala)
c.2108A>C (p.Glu703Ala)
c.1835A>C (p.Glu612Ala)
c.2159A>C (p.Glu720Ala)
c.2069A>C (p.Glu690Ala)
c.2060A>C (p.Glu687Ala)
3g.123291358C>ACA354223855ADCY5c.1759G>T (p.Glu587Ter)
c.2047G>T (p.Glu683Ter)
n.1485G>T
c.3157G>T (p.Glu1053Ter)
c.3082G>T (p.Glu1028Ter)
c.2032G>T (p.Glu678Ter)
c.2056G>T (p.Glu686Ter)
c.2107G>T (p.Glu703Ter)
c.1834G>T (p.Glu612Ter)
c.2158G>T (p.Glu720Ter)
c.2068G>T (p.Glu690Ter)
c.2059G>T (p.Glu687Ter)
dbSNP
3g.123291358C=CA1398330454ADCY5c.1759G= (p.Glu587=)
c.2047G= (p.Glu683=)
n.1485G=
c.3157G= (p.Glu1053=)
c.3082G= (p.Glu1028=)
c.2032G= (p.Glu678=)
c.2056G= (p.Glu686=)
c.2107G= (p.Glu703=)
c.1834G= (p.Glu612=)
c.2158G= (p.Glu720=)
c.2068G= (p.Glu690=)
c.2059G= (p.Glu687=)
3g.123291358C>GCA354223856ADCY5c.1759G>C (p.Glu587Gln)
c.2047G>C (p.Glu683Gln)
n.1485G>C
c.3157G>C (p.Glu1053Gln)
c.3082G>C (p.Glu1028Gln)
c.2032G>C (p.Glu678Gln)
c.2056G>C (p.Glu686Gln)
c.2107G>C (p.Glu703Gln)
c.1834G>C (p.Glu612Gln)
c.2158G>C (p.Glu720Gln)
c.2068G>C (p.Glu690Gln)
c.2059G>C (p.Glu687Gln)
3g.123291358C>TCA354223857ADCY5c.1759G>A (p.Glu587Lys)
c.2047G>A (p.Glu683Lys)
n.1485G>A
c.3157G>A (p.Glu1053Lys)
c.3082G>A (p.Glu1028Lys)
c.2032G>A (p.Glu678Lys)
c.2056G>A (p.Glu686Lys)
c.2107G>A (p.Glu703Lys)
c.1834G>A (p.Glu612Lys)
c.2158G>A (p.Glu720Lys)
c.2068G>A (p.Glu690Lys)
c.2059G>A (p.Glu687Lys)
ClinVar
3g.123291359C>ACA354223858ADCY5c.1758G>T (p.Glu586Asp)
c.2046G>T (p.Glu682Asp)
n.1484G>T
c.3156G>T (p.Glu1052Asp)
c.3081G>T (p.Glu1027Asp)
c.2031G>T (p.Glu677Asp)
c.2055G>T (p.Glu685Asp)
c.2106G>T (p.Glu702Asp)
c.1833G>T (p.Glu611Asp)
c.2157G>T (p.Glu719Asp)
c.2067G>T (p.Glu689Asp)
c.2058G>T (p.Glu686Asp)
3g.123291359C>GCA354223859ADCY5c.1758G>C (p.Glu586Asp)
c.2046G>C (p.Glu682Asp)
n.1484G>C
c.3156G>C (p.Glu1052Asp)
c.3081G>C (p.Glu1027Asp)
c.2031G>C (p.Glu677Asp)
c.2055G>C (p.Glu685Asp)
c.2106G>C (p.Glu702Asp)
c.1833G>C (p.Glu611Asp)
c.2157G>C (p.Glu719Asp)
c.2067G>C (p.Glu689Asp)
c.2058G>C (p.Glu686Asp)
3g.123291359C>TCA435431364ADCY5c.1758G>A (p.Glu586=)
c.2046G>A (p.Glu682=)
n.1484G>A
c.3156G>A (p.Glu1052=)
c.3081G>A (p.Glu1027=)
c.2031G>A (p.Glu677=)
c.2055G>A (p.Glu685=)
c.2106G>A (p.Glu702=)
c.1833G>A (p.Glu611=)
c.2157G>A (p.Glu719=)
c.2067G>A (p.Glu689=)
c.2058G>A (p.Glu686=)
gnomAD v4
3g.123291360T>ACA354223862ADCY5c.1757A>T (p.Glu586Val)
c.2045A>T (p.Glu682Val)
n.1483A>T
c.3155A>T (p.Glu1052Val)
c.3080A>T (p.Glu1027Val)
c.2030A>T (p.Glu677Val)
c.2054A>T (p.Glu685Val)
c.2105A>T (p.Glu702Val)
c.1832A>T (p.Glu611Val)
c.2156A>T (p.Glu719Val)
c.2066A>T (p.Glu689Val)
c.2057A>T (p.Glu686Val)
3g.123291360T>CCA354223860ADCY5c.1757A>G (p.Glu586Gly)
c.2045A>G (p.Glu682Gly)
n.1483A>G
c.3155A>G (p.Glu1052Gly)
c.3080A>G (p.Glu1027Gly)
c.2030A>G (p.Glu677Gly)
c.2054A>G (p.Glu685Gly)
c.2105A>G (p.Glu702Gly)
c.1832A>G (p.Glu611Gly)
c.2156A>G (p.Glu719Gly)
c.2066A>G (p.Glu689Gly)
c.2057A>G (p.Glu686Gly)
3g.123291360T>GCA354223861ADCY5c.1757A>C (p.Glu586Ala)
c.2045A>C (p.Glu682Ala)
n.1483A>C
c.3155A>C (p.Glu1052Ala)
c.3080A>C (p.Glu1027Ala)
c.2030A>C (p.Glu677Ala)
c.2054A>C (p.Glu685Ala)
c.2105A>C (p.Glu702Ala)
c.1832A>C (p.Glu611Ala)
c.2156A>C (p.Glu719Ala)
c.2066A>C (p.Glu689Ala)
c.2057A>C (p.Glu686Ala)
3g.123291361C>ACA354223863ADCY5c.1756G>T (p.Glu586Ter)
c.2044G>T (p.Glu682Ter)
n.1482G>T
c.3154G>T (p.Glu1052Ter)
c.3079G>T (p.Glu1027Ter)
c.2029G>T (p.Glu677Ter)
c.2053G>T (p.Glu685Ter)
c.2104G>T (p.Glu702Ter)
c.1831G>T (p.Glu611Ter)
c.2155G>T (p.Glu719Ter)
c.2065G>T (p.Glu689Ter)
c.2056G>T (p.Glu686Ter)
dbSNP COSMIC
3g.123291361C=CA1398330455ADCY5c.1756G= (p.Glu586=)
c.2044G= (p.Glu682=)
n.1482G=
c.3154G= (p.Glu1052=)
c.3079G= (p.Glu1027=)
c.2029G= (p.Glu677=)
c.2053G= (p.Glu685=)
c.2104G= (p.Glu702=)
c.1831G= (p.Glu611=)
c.2155G= (p.Glu719=)
c.2065G= (p.Glu689=)
c.2056G= (p.Glu686=)
3g.123291361C>GCA354223864ADCY5c.1756G>C (p.Glu586Gln)
c.2044G>C (p.Glu682Gln)
n.1482G>C
c.3154G>C (p.Glu1052Gln)
c.3079G>C (p.Glu1027Gln)
c.2029G>C (p.Glu677Gln)
c.2053G>C (p.Glu685Gln)
c.2104G>C (p.Glu702Gln)
c.1831G>C (p.Glu611Gln)
c.2155G>C (p.Glu719Gln)
c.2065G>C (p.Glu689Gln)
c.2056G>C (p.Glu686Gln)
3g.123291361C>TCA354223865ADCY5c.1756G>A (p.Glu586Lys)
c.2044G>A (p.Glu682Lys)
n.1482G>A
c.3154G>A (p.Glu1052Lys)
c.3079G>A (p.Glu1027Lys)
c.2029G>A (p.Glu677Lys)
c.2053G>A (p.Glu685Lys)
c.2104G>A (p.Glu702Lys)
c.1831G>A (p.Glu611Lys)
c.2155G>A (p.Glu719Lys)
c.2065G>A (p.Glu689Lys)
c.2056G>A (p.Glu686Lys)
3g.123291362T>ACA354223866ADCY5c.1755A>T (p.Lys585Asn)
c.2043A>T (p.Lys681Asn)
n.1481A>T
c.3153A>T (p.Lys1051Asn)
c.3078A>T (p.Lys1026Asn)
c.2028A>T (p.Lys676Asn)
c.2052A>T (p.Lys684Asn)
c.2103A>T (p.Lys701Asn)
c.1830A>T (p.Lys610Asn)
c.2154A>T (p.Lys718Asn)
c.2064A>T (p.Lys688Asn)
c.2055A>T (p.Lys685Asn)
3g.123291362T>CCA2576852ADCY5c.1755A>G (p.Lys585=)
c.2043A>G (p.Lys681=)
n.1481A>G
c.3153A>G (p.Lys1051=)
c.3078A>G (p.Lys1026=)
c.2028A>G (p.Lys676=)
c.2052A>G (p.Lys684=)
c.2103A>G (p.Lys701=)
c.1830A>G (p.Lys610=)
c.2154A>G (p.Lys718=)
c.2064A>G (p.Lys688=)
c.2055A>G (p.Lys685=)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.123291362T>GCA354223867ADCY5c.1755A>C (p.Lys585Asn)
c.2043A>C (p.Lys681Asn)
n.1481A>C
c.3153A>C (p.Lys1051Asn)
c.3078A>C (p.Lys1026Asn)
c.2028A>C (p.Lys676Asn)
c.2052A>C (p.Lys684Asn)
c.2103A>C (p.Lys701Asn)
c.1830A>C (p.Lys610Asn)
c.2154A>C (p.Lys718Asn)
c.2064A>C (p.Lys688Asn)
c.2055A>C (p.Lys685Asn)
3g.123291362T=CA1398330456ADCY5c.1755A= (p.Lys585=)
c.2043A= (p.Lys681=)
n.1481A=
c.3153A= (p.Lys1051=)
c.3078A= (p.Lys1026=)
c.2028A= (p.Lys676=)
c.2052A= (p.Lys684=)
c.2103A= (p.Lys701=)
c.1830A= (p.Lys610=)
c.2154A= (p.Lys718=)
c.2064A= (p.Lys688=)
c.2055A= (p.Lys685=)
3g.123291363T>ACA354223870ADCY5c.1754A>T (p.Lys585Ile)
c.2042A>T (p.Lys681Ile)
n.1480A>T
c.3152A>T (p.Lys1051Ile)
c.3077A>T (p.Lys1026Ile)
c.2027A>T (p.Lys676Ile)
c.2051A>T (p.Lys684Ile)
c.2102A>T (p.Lys701Ile)
c.1829A>T (p.Lys610Ile)
c.2153A>T (p.Lys718Ile)
c.2063A>T (p.Lys688Ile)
c.2054A>T (p.Lys685Ile)
3g.123291363T>CCA354223868ADCY5c.1754A>G (p.Lys585Arg)
c.2042A>G (p.Lys681Arg)
n.1480A>G
c.3152A>G (p.Lys1051Arg)
c.3077A>G (p.Lys1026Arg)
c.2027A>G (p.Lys676Arg)
c.2051A>G (p.Lys684Arg)
c.2102A>G (p.Lys701Arg)
c.1829A>G (p.Lys610Arg)
c.2153A>G (p.Lys718Arg)
c.2063A>G (p.Lys688Arg)
c.2054A>G (p.Lys685Arg)
3g.123291363T>GCA354223869ADCY5c.1754A>C (p.Lys585Thr)
c.2042A>C (p.Lys681Thr)
n.1480A>C
c.3152A>C (p.Lys1051Thr)
c.3077A>C (p.Lys1026Thr)
c.2027A>C (p.Lys676Thr)
c.2051A>C (p.Lys684Thr)
c.2102A>C (p.Lys701Thr)
c.1829A>C (p.Lys610Thr)
c.2153A>C (p.Lys718Thr)
c.2063A>C (p.Lys688Thr)
c.2054A>C (p.Lys685Thr)
3g.123291364T>ACA354223871ADCY5c.1753A>T (p.Lys585Ter)
c.2041A>T (p.Lys681Ter)
n.1479A>T
c.3151A>T (p.Lys1051Ter)
c.3076A>T (p.Lys1026Ter)
c.2026A>T (p.Lys676Ter)
c.2050A>T (p.Lys684Ter)
c.2101A>T (p.Lys701Ter)
c.1828A>T (p.Lys610Ter)
c.2152A>T (p.Lys718Ter)
c.2062A>T (p.Lys688Ter)
c.2053A>T (p.Lys685Ter)
dbSNP
3g.123291364T>CCA354223872ADCY5c.1753A>G (p.Lys585Glu)
c.2041A>G (p.Lys681Glu)
n.1479A>G
c.3151A>G (p.Lys1051Glu)
c.3076A>G (p.Lys1026Glu)
c.2026A>G (p.Lys676Glu)
c.2050A>G (p.Lys684Glu)
c.2101A>G (p.Lys701Glu)
c.1828A>G (p.Lys610Glu)
c.2152A>G (p.Lys718Glu)
c.2062A>G (p.Lys688Glu)
c.2053A>G (p.Lys685Glu)
3g.123291364T>GCA354223873ADCY5c.1753A>C (p.Lys585Gln)
c.2041A>C (p.Lys681Gln)
n.1479A>C
c.3151A>C (p.Lys1051Gln)
c.3076A>C (p.Lys1026Gln)
c.2026A>C (p.Lys676Gln)
c.2050A>C (p.Lys684Gln)
c.2101A>C (p.Lys701Gln)
c.1828A>C (p.Lys610Gln)
c.2152A>C (p.Lys718Gln)
c.2062A>C (p.Lys688Gln)
c.2053A>C (p.Lys685Gln)
3g.123291364T=CA1398330457ADCY5c.1753A= (p.Lys585=)
c.2041A= (p.Lys681=)
n.1479A=
c.3151A= (p.Lys1051=)
c.3076A= (p.Lys1026=)
c.2026A= (p.Lys676=)
c.2050A= (p.Lys684=)
c.2101A= (p.Lys701=)
c.1828A= (p.Lys610=)
c.2152A= (p.Lys718=)
c.2062A= (p.Lys688=)
c.2053A= (p.Lys685=)
3g.123291365C>ACA354223874ADCY5c.1752G>T (p.Glu584Asp)
c.2040G>T (p.Glu680Asp)
n.1478G>T
c.3150G>T (p.Glu1050Asp)
c.3075G>T (p.Glu1025Asp)
c.2025G>T (p.Glu675Asp)
c.2049G>T (p.Glu683Asp)
c.2100G>T (p.Glu700Asp)
c.1827G>T (p.Glu609Asp)
c.2151G>T (p.Glu717Asp)
c.2061G>T (p.Glu687Asp)
c.2052G>T (p.Glu684Asp)
3g.123291365C>GCA354223875ADCY5c.1752G>C (p.Glu584Asp)
c.2040G>C (p.Glu680Asp)
n.1478G>C
c.3150G>C (p.Glu1050Asp)
c.3075G>C (p.Glu1025Asp)
c.2025G>C (p.Glu675Asp)
c.2049G>C (p.Glu683Asp)
c.2100G>C (p.Glu700Asp)
c.1827G>C (p.Glu609Asp)
c.2151G>C (p.Glu717Asp)
c.2061G>C (p.Glu687Asp)
c.2052G>C (p.Glu684Asp)
3g.123291365C>TCA435431366ADCY5c.1752G>A (p.Glu584=)
c.2040G>A (p.Glu680=)
n.1478G>A
c.3150G>A (p.Glu1050=)
c.3075G>A (p.Glu1025=)
c.2025G>A (p.Glu675=)
c.2049G>A (p.Glu683=)
c.2100G>A (p.Glu700=)
c.1827G>A (p.Glu609=)
c.2151G>A (p.Glu717=)
c.2061G>A (p.Glu687=)
c.2052G>A (p.Glu684=)
3g.123291366T>ACA354223876ADCY5c.1751A>T (p.Glu584Val)
c.2039A>T (p.Glu680Val)
n.1477A>T
c.3149A>T (p.Glu1050Val)
c.3074A>T (p.Glu1025Val)
c.2024A>T (p.Glu675Val)
c.2048A>T (p.Glu683Val)
c.2099A>T (p.Glu700Val)
c.1826A>T (p.Glu609Val)
c.2150A>T (p.Glu717Val)
c.2060A>T (p.Glu687Val)
c.2051A>T (p.Glu684Val)
3g.123291366T>CCA354223878ADCY5c.1751A>G (p.Glu584Gly)
c.2039A>G (p.Glu680Gly)
n.1477A>G
c.3149A>G (p.Glu1050Gly)
c.3074A>G (p.Glu1025Gly)
c.2024A>G (p.Glu675Gly)
c.2048A>G (p.Glu683Gly)
c.2099A>G (p.Glu700Gly)
c.1826A>G (p.Glu609Gly)
c.2150A>G (p.Glu717Gly)
c.2060A>G (p.Glu687Gly)
c.2051A>G (p.Glu684Gly)
ClinVar dbSNP
3g.123291366T>GCA354223877ADCY5c.1751A>C (p.Glu584Ala)
c.2039A>C (p.Glu680Ala)
n.1477A>C
c.3149A>C (p.Glu1050Ala)
c.3074A>C (p.Glu1025Ala)
c.2024A>C (p.Glu675Ala)
c.2048A>C (p.Glu683Ala)
c.2099A>C (p.Glu700Ala)
c.1826A>C (p.Glu609Ala)
c.2150A>C (p.Glu717Ala)
c.2060A>C (p.Glu687Ala)
c.2051A>C (p.Glu684Ala)
ClinVar dbSNP
3g.123291366T=CA1398330458ADCY5c.1751A= (p.Glu584=)
c.2039A= (p.Glu680=)
n.1477A=
c.3149A= (p.Glu1050=)
c.3074A= (p.Glu1025=)
c.2024A= (p.Glu675=)
c.2048A= (p.Glu683=)
c.2099A= (p.Glu700=)
c.1826A= (p.Glu609=)
c.2150A= (p.Glu717=)
c.2060A= (p.Glu687=)
c.2051A= (p.Glu684=)
3g.123291367C>ACA354223879ADCY5c.1750G>T (p.Glu584Ter)
c.2038G>T (p.Glu680Ter)
n.1476G>T
c.3148G>T (p.Glu1050Ter)
c.3073G>T (p.Glu1025Ter)
c.2023G>T (p.Glu675Ter)
c.2047G>T (p.Glu683Ter)
c.2098G>T (p.Glu700Ter)
c.1825G>T (p.Glu609Ter)
c.2149G>T (p.Glu717Ter)
c.2059G>T (p.Glu687Ter)
c.2050G>T (p.Glu684Ter)
dbSNP
3g.123291367C=CA1398330459ADCY5c.1750G= (p.Glu584=)
c.2038G= (p.Glu680=)
n.1476G=
c.3148G= (p.Glu1050=)
c.3073G= (p.Glu1025=)
c.2023G= (p.Glu675=)
c.2047G= (p.Glu683=)
c.2098G= (p.Glu700=)
c.1825G= (p.Glu609=)
c.2149G= (p.Glu717=)
c.2059G= (p.Glu687=)
c.2050G= (p.Glu684=)
3g.123291367C>GCA354223880ADCY5c.1750G>C (p.Glu584Gln)
c.2038G>C (p.Glu680Gln)
n.1476G>C
c.3148G>C (p.Glu1050Gln)
c.3073G>C (p.Glu1025Gln)
c.2023G>C (p.Glu675Gln)
c.2047G>C (p.Glu683Gln)
c.2098G>C (p.Glu700Gln)
c.1825G>C (p.Glu609Gln)
c.2149G>C (p.Glu717Gln)
c.2059G>C (p.Glu687Gln)
c.2050G>C (p.Glu684Gln)
3g.123291367C>TCA354223881ADCY5c.1750G>A (p.Glu584Lys)
c.2038G>A (p.Glu680Lys)
n.1476G>A
c.3148G>A (p.Glu1050Lys)
c.3073G>A (p.Glu1025Lys)
c.2023G>A (p.Glu675Lys)
c.2047G>A (p.Glu683Lys)
c.2098G>A (p.Glu700Lys)
c.1825G>A (p.Glu609Lys)
c.2149G>A (p.Glu717Lys)
c.2059G>A (p.Glu687Lys)
c.2050G>A (p.Glu684Lys)
ClinVar dbSNP
3g.123291367_123291368insGCCCGTCGCCA2519265323ADCY5c.1750_1751insCGACGGGCG (p.Glu583_Glu584insAlaThrGly)
c.2038_2039insCGACGGGCG (p.Glu679_Glu680insAlaThrGly)
n.1476_1477insCGACGGGCG
c.3148_3149insCGACGGGCG (p.Glu1049_Glu1050insAlaThrGly)
c.3073_3074insCGACGGGCG (p.Glu1024_Glu1025insAlaThrGly)
c.2023_2024insCGACGGGCG (p.Glu674_Glu675insAlaThrGly)
c.2047_2048insCGACGGGCG (p.Glu682_Glu683insAlaThrGly)
c.2098_2099insCGACGGGCG (p.Glu699_Glu700insAlaThrGly)
c.1825_1826insCGACGGGCG (p.Glu608_Glu609insAlaThrGly)
c.2149_2150insCGACGGGCG (p.Glu716_Glu717insAlaThrGly)
c.2059_2060insCGACGGGCG (p.Glu686_Glu687insAlaThrGly)
c.2050_2051insCGACGGGCG (p.Glu683_Glu684insAlaThrGly)
3g.123291367_123291369delinsCCTCA1398330460ADCY5c.1748_1750delinsAGG (p.Glu583=)
c.2036_2038delinsAGG (p.Glu679=)
n.1474_1476delinsAGG
c.3146_3148delinsAGG (p.Glu1049=)
c.3071_3073delinsAGG (p.Glu1024=)
c.2021_2023delinsAGG (p.Glu674=)
c.2045_2047delinsAGG (p.Glu682=)
c.2096_2098delinsAGG (p.Glu699=)
c.1823_1825delinsAGG (p.Glu608=)
c.2147_2149delinsAGG (p.Glu716=)
c.2057_2059delinsAGG (p.Glu686=)
c.2048_2050delinsAGG (p.Glu683=)
3g.123291368C>ACA354223882ADCY5c.1749G>T (p.Glu583Asp)
c.2037G>T (p.Glu679Asp)
n.1475G>T
c.3147G>T (p.Glu1049Asp)
c.3072G>T (p.Glu1024Asp)
c.2022G>T (p.Glu674Asp)
c.2046G>T (p.Glu682Asp)
c.2097G>T (p.Glu699Asp)
c.1824G>T (p.Glu608Asp)
c.2148G>T (p.Glu716Asp)
c.2058G>T (p.Glu686Asp)
c.2049G>T (p.Glu683Asp)
COSMIC
3g.123291368C>GCA354223883ADCY5c.1749G>C (p.Glu583Asp)
c.2037G>C (p.Glu679Asp)
n.1475G>C
c.3147G>C (p.Glu1049Asp)
c.3072G>C (p.Glu1024Asp)
c.2022G>C (p.Glu674Asp)
c.2046G>C (p.Glu682Asp)
c.2097G>C (p.Glu699Asp)
c.1824G>C (p.Glu608Asp)
c.2148G>C (p.Glu716Asp)
c.2058G>C (p.Glu686Asp)
c.2049G>C (p.Glu683Asp)
3g.123291368C>TCA435431368ADCY5c.1749G>A (p.Glu583=)
c.2037G>A (p.Glu679=)
n.1475G>A
c.3147G>A (p.Glu1049=)
c.3072G>A (p.Glu1024=)
c.2022G>A (p.Glu674=)
c.2046G>A (p.Glu682=)
c.2097G>A (p.Glu699=)
c.1824G>A (p.Glu608=)
c.2148G>A (p.Glu716=)
c.2058G>A (p.Glu686=)
c.2049G>A (p.Glu683=)
gnomAD v4
3g.123291370_123291371delCA1398330461ADCY5c.1748_1749del (p.Glu583GlyfsTer?)
c.2036_2037del (p.Glu679GlyfsTer?)
n.1474_1475del
c.3146_3147del (p.Glu1049GlyfsTer?)
c.3071_3072del (p.Glu1024GlyfsTer?)
c.2021_2022del (p.Glu674GlyfsTer?)
c.2045_2046del (p.Glu682GlyfsTer?)
c.2096_2097del (p.Glu699GlyfsTer?)
c.1823_1824del (p.Glu608GlyfsTer?)
c.2147_2148del (p.Glu716GlyfsTer?)
c.2057_2058del (p.Glu686GlyfsTer?)
c.2048_2049del (p.Glu683GlyfsTer?)
dbSNP

Number of alleles fetched