Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.123291287G>A | CA435431266 | ADCY5 | c.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 |
3 | g.123291287G>C | CA354223701 | ADCY5 | c.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) | |
3 | g.123291287G= | CA1398330426 | ADCY5 | c.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=) | |
3 | g.123291287G>T | CA354223702 | ADCY5 | c.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) | |
3 | g.123291288T>A | CA354223705 | ADCY5 | c.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) | |
3 | g.123291288T>C | CA354223704 | ADCY5 | c.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) | |
3 | g.123291288T>G | CA354223703 | ADCY5 | c.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) | |
3 | g.123291289G>A | CA354223706 | ADCY5 | c.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 |
3 | g.123291289G>C | CA354223708 | ADCY5 | c.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) | |
3 | g.123291289G>T | CA354223707 | ADCY5 | c.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) | |
3 | g.123291290A>C | CA435431269 | ADCY5 | c.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=) | |
3 | g.123291290A>G | CA435431268 | ADCY5 | c.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=) | |
3 | g.123291290A>T | CA435431267 | ADCY5 | c.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=) | |
3 | g.123291291G>A | CA354223709 | ADCY5 | c.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) | |
3 | g.123291291G>C | CA354223711 | ADCY5 | c.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) | |
3 | g.123291291G>T | CA354223710 | ADCY5 | c.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) | |
3 | g.123291292C>A | CA354223712 | ADCY5 | c.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) | |
3 | g.123291292C= | CA1398330427 | ADCY5 | c.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=) | |
3 | g.123291292C>G | CA354223713 | ADCY5 | c.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) | |
3 | g.123291292C>T | CA2576842 | ADCY5 | c.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 |
3 | g.123291293G>A | CA2576843 | ADCY5 | c.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 |
3 | g.123291293G>C | CA435431270 | ADCY5 | c.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=) | |
3 | g.123291293G= | CA1398330428 | ADCY5 | c.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=) | |
3 | g.123291293G>T | CA435431271 | ADCY5 | c.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=) | |
3 | g.123291294G>A | CA354223714 | ADCY5 | c.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 |
3 | g.123291294G>C | CA354223715 | ADCY5 | c.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 |
3 | g.123291294G= | CA1398330429 | ADCY5 | c.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=) | |
3 | g.123291294G>T | CA354223716 | ADCY5 | c.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) | |
3 | g.123291295C>A | CA354223717 | ADCY5 | c.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) | |
3 | g.123291295C>G | CA354223718 | ADCY5 | c.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) | |
3 | g.123291295C>T | CA354223719 | ADCY5 | c.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) | |
3 | g.123291296C>A | CA435431272 | ADCY5 | c.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=) | |
3 | g.123291296C= | CA1398330430 | ADCY5 | c.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=) | |
3 | g.123291296C>G | CA435431273 | ADCY5 | c.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=) | |
3 | g.123291296C>T | CA435431274 | ADCY5 | c.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 |
3 | g.123291297_123291298del | CA2667290341 | ADCY5 | c.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 |
3 | g.123291297A>C | CA354223722 | ADCY5 | c.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) | |
3 | g.123291297A>G | CA354223721 | ADCY5 | c.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) | |
3 | g.123291297A>T | CA354223720 | ADCY5 | c.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) | |
3 | g.123291298C>A | CA354223723 | ADCY5 | c.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) | |
3 | g.123291298C= | CA1398330431 | ADCY5 | c.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=) | |
3 | g.123291298C>G | CA354223724 | ADCY5 | c.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) | |
3 | g.123291298C>T | CA354223725 | ADCY5 | c.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 |
3 | g.123291299G>A | CA2576844 | ADCY5 | c.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 |
3 | g.123291299G>C | CA354223726 | ADCY5 | c.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) | |
3 | g.123291299G= | CA1398330432 | ADCY5 | c.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=) | |
3 | g.123291299G>T | CA354223727 | ADCY5 | c.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) | |
3 | g.123291300T>A | CA354223728 | ADCY5 | c.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) | |
3 | g.123291300T>C | CA354223729 | ADCY5 | c.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 |
3 | g.123291300T>G | CA354223730 | ADCY5 | c.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) | |
3 | g.123291301C>A | CA354223731 | ADCY5 | c.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) | |
3 | g.123291301C>G | CA354223732 | ADCY5 | c.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) | |
3 | g.123291301C>T | CA354223733 | ADCY5 | c.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) | |
3 | g.123291302C>A | CA354223734 | ADCY5 | c.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) | |
3 | g.123291302C>G | CA354223735 | ADCY5 | c.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) | |
3 | g.123291302C>T | CA435431275 | ADCY5 | c.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 |
3 | g.123291303T>A | CA354223736 | ADCY5 | c.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) | |
3 | g.123291303T>C | CA354223737 | ADCY5 | c.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 |
3 | g.123291303T>G | CA354223738 | ADCY5 | c.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) | |
3 | g.123291304T>A | CA354223739 | ADCY5 | c.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 |
3 | g.123291304T>C | CA354223740 | ADCY5 | c.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) | |
3 | g.123291304T>G | CA354223741 | ADCY5 | c.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) | |
3 | g.123291304T= | CA1398330433 | ADCY5 | c.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=) | |
3 | g.123291305G>A | CA82904117 | ADCY5 | c.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 |
3 | g.123291305G>C | CA435431276 | ADCY5 | c.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=) | |
3 | g.123291305G= | CA1398330434 | ADCY5 | c.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=) | |
3 | g.123291305G>T | CA435431277 | ADCY5 | c.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=) | |
3 | g.123291306G>A | CA354223742 | ADCY5 | c.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 |
3 | g.123291306G>C | CA354223743 | ADCY5 | c.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 |
3 | g.123291306G= | CA1398330435 | ADCY5 | c.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=) | |
3 | g.123291306G>T | CA354223744 | ADCY5 | c.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) | |
3 | g.123291307G>A | CA354223745 | ADCY5 | c.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 |
3 | g.123291307G>C | CA354223746 | ADCY5 | c.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) | |
3 | g.123291307G>T | CA354223747 | ADCY5 | c.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) | |
3 | g.123291308C>A | CA435431278 | ADCY5 | c.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=) | |
3 | g.123291308C>G | CA435431279 | ADCY5 | c.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=) | |
3 | g.123291308C>T | CA435431280 | ADCY5 | c.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=) | |
3 | g.123291309A>C | CA354223750 | ADCY5 | c.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) | |
3 | g.123291309A>G | CA354223748 | ADCY5 | c.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) | |
3 | g.123291309A>T | CA354223749 | ADCY5 | c.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) | |
3 | g.123291310G>A | CA435431281 | ADCY5 | c.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 |
3 | g.123291310G>C | CA354223751 | ADCY5 | c.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) | |
3 | g.123291310G>T | CA354223752 | ADCY5 | c.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) | |
3 | g.123291311G>A | CA435431283 | ADCY5 | c.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=) | |
3 | g.123291311G>C | CA354223753 | ADCY5 | c.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) | |
3 | g.123291311G>T | CA435431284 | ADCY5 | c.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=) | |
3 | g.123291312A>C | CA354223754 | ADCY5 | c.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) | |
3 | g.123291312A>G | CA354223755 | ADCY5 | c.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) | |
3 | g.123291312A>T | CA354223756 | ADCY5 | c.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) | |
3 | g.123291313T>A | CA354223757 | ADCY5 | c.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) | |
3 | g.123291313T>C | CA354223758 | ADCY5 | c.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) | |
3 | g.123291313T>G | CA354223759 | ADCY5 | c.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) | |
3 | g.123291314G>A | CA2576845 | ADCY5 | c.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 |
3 | g.123291314G>C | CA354223760 | ADCY5 | c.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) | |
3 | g.123291314G= | CA1398330436 | ADCY5 | c.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=) | |
3 | g.123291314G>T | CA354223761 | ADCY5 | c.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) | |
3 | g.123291315T>A | CA354223763 | ADCY5 | c.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) | |
3 | g.123291315T>C | CA354223764 | ADCY5 | c.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) | |
3 | g.123291315T>G | CA354223762 | ADCY5 | c.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) | |
3 | g.123291316T>A | CA354223767 | ADCY5 | c.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) | |
3 | g.123291316T>C | CA354223765 | ADCY5 | c.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) | |
3 | g.123291316T>G | CA354223766 | ADCY5 | c.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) | |
3 | g.123291317G>A | CA435431288 | ADCY5 | c.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=) | |
3 | g.123291317G>C | CA354223768 | ADCY5 | c.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) | |
3 | g.123291317G>T | CA354223769 | ADCY5 | c.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) | |
3 | g.123291318T>A | CA354223770 | ADCY5 | c.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) | |
3 | g.123291318T>C | CA354223771 | ADCY5 | c.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) | |
3 | g.123291318T>G | CA354223772 | ADCY5 | c.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) | |
3 | g.123291319G>A | CA354223773 | ADCY5 | c.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) | |
3 | g.123291319G>C | CA354223774 | ADCY5 | c.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) | |
3 | g.123291319G>T | CA354223775 | ADCY5 | c.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) | |
3 | g.123291320C>A | CA435431293 | ADCY5 | c.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=) | |
3 | g.123291320C= | CA1398330437 | ADCY5 | c.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=) | |
3 | g.123291320C>G | CA435431294 | ADCY5 | c.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=) | |
3 | g.123291320C>T | CA435431295 | ADCY5 | c.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 |
3 | g.123291321A>C | CA354223776 | ADCY5 | c.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) | |
3 | g.123291321A>G | CA354223777 | ADCY5 | c.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 |
3 | g.123291321A>T | CA354223778 | ADCY5 | c.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) | |
3 | g.123291322G>A | CA2576846 | ADCY5 | c.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 |
3 | g.123291322G>C | CA354223780 | ADCY5 | c.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) | |
3 | g.123291322G= | CA1398330438 | ADCY5 | c.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=) | |
3 | g.123291322G>T | CA354223779 | ADCY5 | c.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) | |
3 | g.123291323C>A | CA435431298 | ADCY5 | c.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=) | |
3 | g.123291323C= | CA1398330439 | ADCY5 | c.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=) | |
3 | g.123291323C>G | CA435431299 | ADCY5 | c.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=) | |
3 | g.123291323C>T | CA435431300 | ADCY5 | c.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 |
3 | g.123291324A>C | CA354223781 | ADCY5 | c.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 |
3 | g.123291324A>G | CA354223782 | ADCY5 | c.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) | |
3 | g.123291324A>T | CA354223783 | ADCY5 | c.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) | |
3 | g.123291325G>A | CA435431302 | ADCY5 | c.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 |
3 | g.123291325G>C | CA354223784 | ADCY5 | c.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) | |
3 | g.123291325G= | CA1398330440 | ADCY5 | c.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=) | |
3 | g.123291325G>T | CA354223785 | ADCY5 | c.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) | |
3 | g.123291326C>A | CA435431304 | ADCY5 | c.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=) | |
3 | g.123291326C>G | CA435431305 | ADCY5 | c.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=) | |
3 | g.123291326C>T | CA435431306 | ADCY5 | c.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=) | |
3 | g.123291327C>A | CA354223786 | ADCY5 | c.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) | |
3 | g.123291327C= | CA1398330441 | ADCY5 | c.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=) | |
3 | g.123291327C>G | CA354223787 | ADCY5 | c.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) | |
3 | g.123291327C>T | CA354223788 | ADCY5 | c.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 |
3 | g.123291328G>A | CA2576847 | ADCY5 | c.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 |
3 | g.123291328G>C | CA354223789 | ADCY5 | c.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) | |
3 | g.123291328G= | CA1398330442 | ADCY5 | c.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=) | |
3 | g.123291328G>T | CA435431310 | ADCY5 | c.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=) | |
3 | g.123291329C>A | CA435431312 | ADCY5 | c.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 |
3 | g.123291329C= | CA1398330443 | ADCY5 | c.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=) | |
3 | g.123291329C>G | CA435431315 | ADCY5 | c.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=) | |
3 | g.123291329C>T | CA2576848 | ADCY5 | c.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 |
3 | g.123291330C>A | CA354223791 | ADCY5 | c.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) | |
3 | g.123291330C= | CA1398330444 | ADCY5 | c.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=) | |
3 | g.123291330C>G | CA354223792 | ADCY5 | c.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 |
3 | g.123291330C>T | CA354223790 | ADCY5 | c.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 |
3 | g.123291331G>A | CA2576849 | ADCY5 | c.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 |
3 | g.123291331G>C | CA354223793 | ADCY5 | c.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) | |
3 | g.123291331G= | CA1398330445 | ADCY5 | c.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=) | |
3 | g.123291331G>T | CA2576850 | ADCY5 | c.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 |
3 | g.123291332G>A | CA435431321 | ADCY5 | c.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=) | |
3 | g.123291332G>C | CA354223794 | ADCY5 | c.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) | |
3 | g.123291332G>T | CA354223795 | ADCY5 | c.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) | |
3 | g.123291333T>A | CA354223796 | ADCY5 | c.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) | |
3 | g.123291333T>C | CA354223797 | ADCY5 | c.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) | |
3 | g.123291333T>G | CA354223798 | ADCY5 | c.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) | |
3 | g.123291334T>A | CA354223799 | ADCY5 | c.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) | |
3 | g.123291334T>C | CA354223800 | ADCY5 | c.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) | |
3 | g.123291334T>G | CA354223801 | ADCY5 | c.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) | |
3 | g.123291335G>A | CA435431328 | ADCY5 | c.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=) | |
3 | g.123291335G>C | CA354223802 | ADCY5 | c.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) | |
3 | g.123291335G>T | CA354223803 | ADCY5 | c.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) | |
3 | g.123291336T>A | CA354223805 | ADCY5 | c.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) | |
3 | g.123291336T>C | CA354223806 | ADCY5 | c.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 |
3 | g.123291336T>G | CA354223804 | ADCY5 | c.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) | |
3 | g.123291337A>C | CA354223807 | ADCY5 | c.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) | |
3 | g.123291337A>G | CA354223808 | ADCY5 | c.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) | |
3 | g.123291337A>T | CA354223809 | ADCY5 | c.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) | |
3 | g.123291338G>A | CA435431336 | ADCY5 | c.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 |
3 | g.123291338G>C | CA435431335 | ADCY5 | c.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=) | |
3 | g.123291338G>T | CA435431334 | ADCY5 | c.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=) | |
3 | g.123291339G>A | CA354223810 | ADCY5 | c.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) | |
3 | g.123291339G>C | CA354223811 | ADCY5 | c.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) | |
3 | g.123291339G>T | CA354223812 | ADCY5 | c.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) | |
3 | g.123291340C>A | CA354223814 | ADCY5 | c.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) | |
3 | g.123291340C= | CA1398330446 | ADCY5 | c.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=) | |
3 | g.123291340C>G | CA2576851 | ADCY5 | c.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 |
3 | g.123291340C>T | CA354223813 | ADCY5 | c.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) | |
3 | g.123291341C>A | CA354223815 | ADCY5 | c.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 |
3 | g.123291341C>G | CA354223816 | ADCY5 | c.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) | |
3 | g.123291341C>T | CA435431338 | ADCY5 | c.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=) | |
3 | g.123291342T>A | CA354223817 | ADCY5 | c.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) | |
3 | g.123291342T>C | CA354223818 | ADCY5 | c.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) | |
3 | g.123291342T>G | CA354223819 | ADCY5 | c.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) | |
3 | g.123291343G>A | CA354223821 | ADCY5 | c.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 |
3 | g.123291343G>C | CA82904161 | ADCY5 | c.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 |
3 | g.123291343G= | CA1398330447 | ADCY5 | c.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=) | |
3 | g.123291343G>T | CA354223820 | ADCY5 | c.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) | |
3 | g.123291344C>A | CA435431340 | ADCY5 | c.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=) | |
3 | g.123291344C= | CA1398330448 | ADCY5 | c.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=) | |
3 | g.123291344C>G | CA435431342 | ADCY5 | c.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=) | |
3 | g.123291344C>T | CA435431341 | ADCY5 | c.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 |
3 | g.123291345A>C | CA354223822 | ADCY5 | c.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) | |
3 | g.123291345A>G | CA354223824 | ADCY5 | c.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) | |
3 | g.123291345A>T | CA354223823 | ADCY5 | c.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) | |
3 | g.123291346G>A | CA435431343 | ADCY5 | c.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 |
3 | g.123291346G>C | CA354223825 | ADCY5 | c.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) | |
3 | g.123291346G= | CA1398330449 | ADCY5 | c.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=) | |
3 | g.123291346G>T | CA82904171 | ADCY5 | c.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 |
3 | g.123291347C>A | CA354223826 | ADCY5 | c.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) | |
3 | g.123291347C>G | CA354223827 | ADCY5 | c.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 |
3 | g.123291347C>T | CA435431348 | ADCY5 | c.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=) | |
3 | g.123291348T>A | CA354223828 | ADCY5 | c.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) | |
3 | g.123291348T>C | CA354223830 | ADCY5 | c.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) | |
3 | g.123291348T>G | CA354223829 | ADCY5 | c.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) | |
3 | g.123291349C>A | CA354223831 | ADCY5 | c.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 |
3 | g.123291349C= | CA1398330450 | ADCY5 | c.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=) | |
3 | g.123291349C>G | CA354223832 | ADCY5 | c.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) | |
3 | g.123291349C>T | CA354223833 | ADCY5 | c.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 |
3 | g.123291350C>A | CA354223834 | ADCY5 | c.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) | |
3 | g.123291350C>G | CA354223835 | ADCY5 | c.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) | |
3 | g.123291350C>T | CA435431356 | ADCY5 | c.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=) | |
3 | g.123291351T>A | CA354223838 | ADCY5 | c.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 |
3 | g.123291351T>C | CA354223837 | ADCY5 | c.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) | |
3 | g.123291351T>G | CA354223836 | ADCY5 | c.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) | |
3 | g.123291351T= | CA1398330451 | ADCY5 | c.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=) | |
3 | g.123291352C>A | CA354223839 | ADCY5 | c.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 |
3 | g.123291352C= | CA1398330452 | ADCY5 | c.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=) | |
3 | g.123291352C>G | CA354223840 | ADCY5 | c.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) | |
3 | g.123291352C>T | CA354223841 | ADCY5 | c.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 |
3 | g.123291353C>A | CA354223842 | ADCY5 | c.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) | |
3 | g.123291353C>G | CA354223843 | ADCY5 | c.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) | |
3 | g.123291353C>T | CA354223844 | ADCY5 | c.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) | |
3 | g.123291354A= | CA1398330453 | ADCY5 | c.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=) | |
3 | g.123291354A>C | CA354223846 | ADCY5 | c.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 |
3 | g.123291354A>G | CA354223845 | ADCY5 | c.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) | |
3 | g.123291354A>T | CA347742 | ADCY5 | c.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 |
3 | g.123291355T>A | CA354223847 | ADCY5 | c.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) | |
3 | g.123291355T>C | CA354223848 | ADCY5 | c.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) | |
3 | g.123291355T>G | CA354223849 | ADCY5 | c.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) | |
3 | g.123291356C>A | CA354223850 | ADCY5 | c.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 |
3 | g.123291356C>G | CA354223851 | ADCY5 | c.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) | |
3 | g.123291356C>T | CA435431363 | ADCY5 | c.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=) | |
3 | g.123291357T>A | CA354223852 | ADCY5 | c.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) | |
3 | g.123291357T>C | CA354223853 | ADCY5 | c.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) | |
3 | g.123291357T>G | CA354223854 | ADCY5 | c.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) | |
3 | g.123291358C>A | CA354223855 | ADCY5 | c.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 |
3 | g.123291358C= | CA1398330454 | ADCY5 | c.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=) | |
3 | g.123291358C>G | CA354223856 | ADCY5 | c.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) | |
3 | g.123291358C>T | CA354223857 | ADCY5 | c.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 |
3 | g.123291359C>A | CA354223858 | ADCY5 | c.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) | |
3 | g.123291359C>G | CA354223859 | ADCY5 | c.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) | |
3 | g.123291359C>T | CA435431364 | ADCY5 | c.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 |
3 | g.123291360T>A | CA354223862 | ADCY5 | c.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) | |
3 | g.123291360T>C | CA354223860 | ADCY5 | c.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) | |
3 | g.123291360T>G | CA354223861 | ADCY5 | c.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) | |
3 | g.123291361C>A | CA354223863 | ADCY5 | c.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 |
3 | g.123291361C= | CA1398330455 | ADCY5 | c.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=) | |
3 | g.123291361C>G | CA354223864 | ADCY5 | c.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) | |
3 | g.123291361C>T | CA354223865 | ADCY5 | c.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) | |
3 | g.123291362T>A | CA354223866 | ADCY5 | c.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) | |
3 | g.123291362T>C | CA2576852 | ADCY5 | c.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 |
3 | g.123291362T>G | CA354223867 | ADCY5 | c.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) | |
3 | g.123291362T= | CA1398330456 | ADCY5 | c.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=) | |
3 | g.123291363T>A | CA354223870 | ADCY5 | c.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) | |
3 | g.123291363T>C | CA354223868 | ADCY5 | c.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) | |
3 | g.123291363T>G | CA354223869 | ADCY5 | c.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) | |
3 | g.123291364T>A | CA354223871 | ADCY5 | c.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 |
3 | g.123291364T>C | CA354223872 | ADCY5 | c.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) | |
3 | g.123291364T>G | CA354223873 | ADCY5 | c.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) | |
3 | g.123291364T= | CA1398330457 | ADCY5 | c.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=) | |
3 | g.123291365C>A | CA354223874 | ADCY5 | c.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) | |
3 | g.123291365C>G | CA354223875 | ADCY5 | c.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) | |
3 | g.123291365C>T | CA435431366 | ADCY5 | c.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=) | |
3 | g.123291366T>A | CA354223876 | ADCY5 | c.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) | |
3 | g.123291366T>C | CA354223878 | ADCY5 | c.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 |
3 | g.123291366T>G | CA354223877 | ADCY5 | c.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 |
3 | g.123291366T= | CA1398330458 | ADCY5 | c.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=) | |
3 | g.123291367C>A | CA354223879 | ADCY5 | c.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 |
3 | g.123291367C= | CA1398330459 | ADCY5 | c.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=) | |
3 | g.123291367C>G | CA354223880 | ADCY5 | c.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) | |
3 | g.123291367C>T | CA354223881 | ADCY5 | c.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 |
3 | g.123291367_123291368insGCCCGTCGC | CA2519265323 | ADCY5 | c.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) | |
3 | g.123291367_123291369delinsCCT | CA1398330460 | ADCY5 | c.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=) | |
3 | g.123291368C>A | CA354223882 | ADCY5 | c.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 |
3 | g.123291368C>G | CA354223883 | ADCY5 | c.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) | |
3 | g.123291368C>T | CA435431368 | ADCY5 | c.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 |
3 | g.123291370_123291371del | CA1398330461 | ADCY5 | c.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 |
3 | g.123291369T>A | CA354223884 | ADCY5 | c.1748A>T (p.Glu583Val) c.2036A>T (p.Glu679Val) n.1474A>T c.3146A>T (p.Glu1049Val) c.3071A>T (p.Glu1024Val) c.2021A>T (p.Glu674Val) c.2045A>T (p.Glu682Val) c.2096A>T (p.Glu699Val) c.1823A>T (p.Glu608Val) c.2147A>T (p.Glu716Val) c.2057A>T (p.Glu686Val) c.2048A>T (p.Glu683Val) | |
3 | g.123291369T>C | CA354223885 | ADCY5 | c.1748A>G (p.Glu583Gly) c.2036A>G (p.Glu679Gly) n.1474A>G c.3146A>G (p.Glu1049Gly) c.3071A>G (p.Glu1024Gly) c.2021A>G (p.Glu674Gly) c.2045A>G (p.Glu682Gly) c.2096A>G (p.Glu699Gly) c.1823A>G (p.Glu608Gly) c.2147A>G (p.Glu716Gly) c.2057A>G (p.Glu686Gly) c.2048A>G (p.Glu683Gly) | |
3 | g.123291369T>G | CA354223886 | ADCY5 | c.1748A>C (p.Glu583Ala) c.2036A>C (p.Glu679Ala) n.1474A>C c.3146A>C (p.Glu1049Ala) c.3071A>C (p.Glu1024Ala) c.2021A>C (p.Glu674Ala) c.2045A>C (p.Glu682Ala) c.2096A>C (p.Glu699Ala) c.1823A>C (p.Glu608Ala) c.2147A>C (p.Glu716Ala) c.2057A>C (p.Glu686Ala) c.2048A>C (p.Glu683Ala) | |
3 | g.123291370C>A | CA354223887 | ADCY5 | c.1747G>T (p.Glu583Ter) c.2035G>T (p.Glu679Ter) n.1473G>T c.3145G>T (p.Glu1049Ter) c.3070G>T (p.Glu1024Ter) c.2020G>T (p.Glu674Ter) c.2044G>T (p.Glu682Ter) c.2095G>T (p.Glu699Ter) c.1822G>T (p.Glu608Ter) c.2146G>T (p.Glu716Ter) c.2056G>T (p.Glu686Ter) c.2047G>T (p.Glu683Ter) | dbSNP |
3 | g.123291370C= | CA1398330462 | ADCY5 | c.1747G= (p.Glu583=) c.2035G= (p.Glu679=) n.1473G= c.3145G= (p.Glu1049=) c.3070G= (p.Glu1024=) c.2020G= (p.Glu674=) c.2044G= (p.Glu682=) c.2095G= (p.Glu699=) c.1822G= (p.Glu608=) c.2146G= (p.Glu716=) c.2056G= (p.Glu686=) c.2047G= (p.Glu683=) | |
3 | g.123291370C>G | CA354223888 | ADCY5 | c.1747G>C (p.Glu583Gln) c.2035G>C (p.Glu679Gln) n.1473G>C c.3145G>C (p.Glu1049Gln) c.3070G>C (p.Glu1024Gln) c.2020G>C (p.Glu674Gln) c.2044G>C (p.Glu682Gln) c.2095G>C (p.Glu699Gln) c.1822G>C (p.Glu608Gln) c.2146G>C (p.Glu716Gln) c.2056G>C (p.Glu686Gln) c.2047G>C (p.Glu683Gln) | |
3 | g.123291370C>T | CA354223889 | ADCY5 | c.1747G>A (p.Glu583Lys) c.2035G>A (p.Glu679Lys) n.1473G>A c.3145G>A (p.Glu1049Lys) c.3070G>A (p.Glu1024Lys) c.2020G>A (p.Glu674Lys) c.2044G>A (p.Glu682Lys) c.2095G>A (p.Glu699Lys) c.1822G>A (p.Glu608Lys) c.2146G>A (p.Glu716Lys) c.2056G>A (p.Glu686Lys) c.2047G>A (p.Glu683Lys) | |
3 | g.123291371T>A | CA435431372 | ADCY5 | c.1746A>T (p.Thr582=) c.2034A>T (p.Thr678=) n.1472A>T c.3144A>T (p.Thr1048=) c.3069A>T (p.Thr1023=) c.2019A>T (p.Thr673=) c.2043A>T (p.Thr681=) c.2094A>T (p.Thr698=) c.1821A>T (p.Thr607=) c.2145A>T (p.Thr715=) c.2055A>T (p.Thr685=) c.2046A>T (p.Thr682=) | |
3 | g.123291371T>C | CA435431374 | ADCY5 | c.1746A>G (p.Thr582=) c.2034A>G (p.Thr678=) n.1472A>G c.3144A>G (p.Thr1048=) c.3069A>G (p.Thr1023=) c.2019A>G (p.Thr673=) c.2043A>G (p.Thr681=) c.2094A>G (p.Thr698=) c.1821A>G (p.Thr607=) c.2145A>G (p.Thr715=) c.2055A>G (p.Thr685=) c.2046A>G (p.Thr682=) | |
3 | g.123291371T>G | CA435431371 | ADCY5 | c.1746A>C (p.Thr582=) c.2034A>C (p.Thr678=) n.1472A>C c.3144A>C (p.Thr1048=) c.3069A>C (p.Thr1023=) c.2019A>C (p.Thr673=) c.2043A>C (p.Thr681=) c.2094A>C (p.Thr698=) c.1821A>C (p.Thr607=) c.2145A>C (p.Thr715=) c.2055A>C (p.Thr685=) c.2046A>C (p.Thr682=) | |
3 | g.123291372G>A | CA354223890 | ADCY5 | c.1745C>T (p.Thr582Ile) c.2033C>T (p.Thr678Ile) n.1471C>T c.3143C>T (p.Thr1048Ile) c.3068C>T (p.Thr1023Ile) c.2018C>T (p.Thr673Ile) c.2042C>T (p.Thr681Ile) c.2093C>T (p.Thr698Ile) c.1820C>T (p.Thr607Ile) c.2144C>T (p.Thr715Ile) c.2054C>T (p.Thr685Ile) c.2045C>T (p.Thr682Ile) | |
3 | g.123291372G>C | CA354223892 | ADCY5 | c.1745C>G (p.Thr582Arg) c.2033C>G (p.Thr678Arg) n.1471C>G c.3143C>G (p.Thr1048Arg) c.3068C>G (p.Thr1023Arg) c.2018C>G (p.Thr673Arg) c.2042C>G (p.Thr681Arg) c.2093C>G (p.Thr698Arg) c.1820C>G (p.Thr607Arg) c.2144C>G (p.Thr715Arg) c.2054C>G (p.Thr685Arg) c.2045C>G (p.Thr682Arg) | |
3 | g.123291372G>T | CA354223891 | ADCY5 | c.1745C>A (p.Thr582Lys) c.2033C>A (p.Thr678Lys) n.1471C>A c.3143C>A (p.Thr1048Lys) c.3068C>A (p.Thr1023Lys) c.2018C>A (p.Thr673Lys) c.2042C>A (p.Thr681Lys) c.2093C>A (p.Thr698Lys) c.1820C>A (p.Thr607Lys) c.2144C>A (p.Thr715Lys) c.2054C>A (p.Thr685Lys) c.2045C>A (p.Thr682Lys) | |
3 | g.123291373T>A | CA354223893 | ADCY5 | c.1744A>T (p.Thr582Ser) c.2032A>T (p.Thr678Ser) n.1470A>T c.3142A>T (p.Thr1048Ser) c.3067A>T (p.Thr1023Ser) c.2017A>T (p.Thr673Ser) c.2041A>T (p.Thr681Ser) c.2092A>T (p.Thr698Ser) c.1819A>T (p.Thr607Ser) c.2143A>T (p.Thr715Ser) c.2053A>T (p.Thr685Ser) c.2044A>T (p.Thr682Ser) | |
3 | g.123291373T>C | CA354223895 | ADCY5 | c.1744A>G (p.Thr582Ala) c.2032A>G (p.Thr678Ala) n.1470A>G c.3142A>G (p.Thr1048Ala) c.3067A>G (p.Thr1023Ala) c.2017A>G (p.Thr673Ala) c.2041A>G (p.Thr681Ala) c.2092A>G (p.Thr698Ala) c.1819A>G (p.Thr607Ala) c.2143A>G (p.Thr715Ala) c.2053A>G (p.Thr685Ala) c.2044A>G (p.Thr682Ala) | |
3 | g.123291373T>G | CA354223894 | ADCY5 | c.1744A>C (p.Thr582Pro) c.2032A>C (p.Thr678Pro) n.1470A>C c.3142A>C (p.Thr1048Pro) c.3067A>C (p.Thr1023Pro) c.2017A>C (p.Thr673Pro) c.2041A>C (p.Thr681Pro) c.2092A>C (p.Thr698Pro) c.1819A>C (p.Thr607Pro) c.2143A>C (p.Thr715Pro) c.2053A>C (p.Thr685Pro) c.2044A>C (p.Thr682Pro) | |
3 | g.123291374G>A | CA435431377 | ADCY5 | c.1743C>T (p.Ala581=) c.2031C>T (p.Ala677=) n.1469C>T c.3141C>T (p.Ala1047=) c.3066C>T (p.Ala1022=) c.2016C>T (p.Ala672=) c.2040C>T (p.Ala680=) c.2091C>T (p.Ala697=) c.1818C>T (p.Ala606=) c.2142C>T (p.Ala714=) c.2052C>T (p.Ala684=) c.2043C>T (p.Ala681=) | |
3 | g.123291374G>C | CA435431376 | ADCY5 | c.1743C>G (p.Ala581=) c.2031C>G (p.Ala677=) n.1469C>G c.3141C>G (p.Ala1047=) c.3066C>G (p.Ala1022=) c.2016C>G (p.Ala672=) c.2040C>G (p.Ala680=) c.2091C>G (p.Ala697=) c.1818C>G (p.Ala606=) c.2142C>G (p.Ala714=) c.2052C>G (p.Ala684=) c.2043C>G (p.Ala681=) | |
3 | g.123291374G>T | CA435431375 | ADCY5 | c.1743C>A (p.Ala581=) c.2031C>A (p.Ala677=) n.1469C>A c.3141C>A (p.Ala1047=) c.3066C>A (p.Ala1022=) c.2016C>A (p.Ala672=) c.2040C>A (p.Ala680=) c.2091C>A (p.Ala697=) c.1818C>A (p.Ala606=) c.2142C>A (p.Ala714=) c.2052C>A (p.Ala684=) c.2043C>A (p.Ala681=) | |
3 | g.123291375G>A | CA354223896 | ADCY5 | c.1742C>T (p.Ala581Val) c.2030C>T (p.Ala677Val) n.1468C>T c.3140C>T (p.Ala1047Val) c.3065C>T (p.Ala1022Val) c.2015C>T (p.Ala672Val) c.2039C>T (p.Ala680Val) c.2090C>T (p.Ala697Val) c.1817C>T (p.Ala606Val) c.2141C>T (p.Ala714Val) c.2051C>T (p.Ala684Val) c.2042C>T (p.Ala681Val) | |
3 | g.123291375G>C | CA354223897 | ADCY5 | c.1742C>G (p.Ala581Gly) c.2030C>G (p.Ala677Gly) n.1468C>G c.3140C>G (p.Ala1047Gly) c.3065C>G (p.Ala1022Gly) c.2015C>G (p.Ala672Gly) c.2039C>G (p.Ala680Gly) c.2090C>G (p.Ala697Gly) c.1817C>G (p.Ala606Gly) c.2141C>G (p.Ala714Gly) c.2051C>G (p.Ala684Gly) c.2042C>G (p.Ala681Gly) | |
3 | g.123291375G= | CA1398330463 | ADCY5 | c.1742C= (p.Ala581=) c.2030C= (p.Ala677=) n.1468C= c.3140C= (p.Ala1047=) c.3065C= (p.Ala1022=) c.2015C= (p.Ala672=) c.2039C= (p.Ala680=) c.2090C= (p.Ala697=) c.1817C= (p.Ala606=) c.2141C= (p.Ala714=) c.2051C= (p.Ala684=) c.2042C= (p.Ala681=) | |
3 | g.123291375G>T | CA354223898 | ADCY5 | c.1742C>A (p.Ala581Asp) c.2030C>A (p.Ala677Asp) n.1468C>A c.3140C>A (p.Ala1047Asp) c.3065C>A (p.Ala1022Asp) c.2015C>A (p.Ala672Asp) c.2039C>A (p.Ala680Asp) c.2090C>A (p.Ala697Asp) c.1817C>A (p.Ala606Asp) c.2141C>A (p.Ala714Asp) c.2051C>A (p.Ala684Asp) c.2042C>A (p.Ala681Asp) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.123291376C>A | CA354223899 | ADCY5 | c.1741G>T (p.Ala581Ser) c.2029G>T (p.Ala677Ser) n.1467G>T c.3139G>T (p.Ala1047Ser) c.3064G>T (p.Ala1022Ser) c.2014G>T (p.Ala672Ser) c.2038G>T (p.Ala680Ser) c.2089G>T (p.Ala697Ser) c.1816G>T (p.Ala606Ser) c.2140G>T (p.Ala714Ser) c.2050G>T (p.Ala684Ser) c.2041G>T (p.Ala681Ser) | |
3 | g.123291376C>G | CA354223900 | ADCY5 | c.1741G>C (p.Ala581Pro) c.2029G>C (p.Ala677Pro) n.1467G>C c.3139G>C (p.Ala1047Pro) c.3064G>C (p.Ala1022Pro) c.2014G>C (p.Ala672Pro) c.2038G>C (p.Ala680Pro) c.2089G>C (p.Ala697Pro) c.1816G>C (p.Ala606Pro) c.2140G>C (p.Ala714Pro) c.2050G>C (p.Ala684Pro) c.2041G>C (p.Ala681Pro) | |
3 | g.123291376C>T | CA354223901 | ADCY5 | c.1741G>A (p.Ala581Thr) c.2029G>A (p.Ala677Thr) n.1467G>A c.3139G>A (p.Ala1047Thr) c.3064G>A (p.Ala1022Thr) c.2014G>A (p.Ala672Thr) c.2038G>A (p.Ala680Thr) c.2089G>A (p.Ala697Thr) c.1816G>A (p.Ala606Thr) c.2140G>A (p.Ala714Thr) c.2050G>A (p.Ala684Thr) c.2041G>A (p.Ala681Thr) | |
3 | g.123291377C>A | CA354223902 | ADCY5 | c.1741-1G>T (n.1741-1G>T) c.2029-1G>T (n.2029-1G>T) n.1467-1G>T c.3139-1G>T (n.3139-1G>T) c.3064-1G>T (n.3064-1G>T) c.2014-1G>T (n.2014-1G>T) c.2038-1G>T (n.2038-1G>T) c.2089-1G>T (n.2089-1G>T) c.1816-1G>T (n.1816-1G>T) c.2140-1G>T (n.2140-1G>T) c.2050-1G>T (n.2050-1G>T) c.2041-1G>T (n.2041-1G>T) | |
3 | g.123291377C>G | CA354223903 | ADCY5 | c.1741-1G>C (n.1741-1G>C) c.2029-1G>C (n.2029-1G>C) n.1467-1G>C c.3139-1G>C (n.3139-1G>C) c.3064-1G>C (n.3064-1G>C) c.2014-1G>C (n.2014-1G>C) c.2038-1G>C (n.2038-1G>C) c.2089-1G>C (n.2089-1G>C) c.1816-1G>C (n.1816-1G>C) c.2140-1G>C (n.2140-1G>C) c.2050-1G>C (n.2050-1G>C) c.2041-1G>C (n.2041-1G>C) | |
3 | g.123291377C>T | CA354223904 | ADCY5 | c.1741-1G>A (n.1741-1G>A) c.2029-1G>A (n.2029-1G>A) n.1467-1G>A c.3139-1G>A (n.3139-1G>A) c.3064-1G>A (n.3064-1G>A) c.2014-1G>A (n.2014-1G>A) c.2038-1G>A (n.2038-1G>A) c.2089-1G>A (n.2089-1G>A) c.1816-1G>A (n.1816-1G>A) c.2140-1G>A (n.2140-1G>A) c.2050-1G>A (n.2050-1G>A) c.2041-1G>A (n.2041-1G>A) | gnomAD v4 |
3 | g.123291378T>A | CA354223905 | ADCY5 | c.1741-2A>T (n.1741-2A>T) c.2029-2A>T (n.2029-2A>T) n.1467-2A>T c.3139-2A>T (n.3139-2A>T) c.3064-2A>T (n.3064-2A>T) c.2014-2A>T (n.2014-2A>T) c.2038-2A>T (n.2038-2A>T) c.2089-2A>T (n.2089-2A>T) c.1816-2A>T (n.1816-2A>T) c.2140-2A>T (n.2140-2A>T) c.2050-2A>T (n.2050-2A>T) c.2041-2A>T (n.2041-2A>T) | |
3 | g.123291378T>C | CA354223906 | ADCY5 | c.1741-2A>G (n.1741-2A>G) c.2029-2A>G (n.2029-2A>G) n.1467-2A>G c.3139-2A>G (n.3139-2A>G) c.3064-2A>G (n.3064-2A>G) c.2014-2A>G (n.2014-2A>G) c.2038-2A>G (n.2038-2A>G) c.2089-2A>G (n.2089-2A>G) c.1816-2A>G (n.1816-2A>G) c.2140-2A>G (n.2140-2A>G) c.2050-2A>G (n.2050-2A>G) c.2041-2A>G (n.2041-2A>G) | |
3 | g.123291378T>G | CA354223907 | ADCY5 | c.1741-2A>C (n.1741-2A>C) c.2029-2A>C (n.2029-2A>C) n.1467-2A>C c.3139-2A>C (n.3139-2A>C) c.3064-2A>C (n.3064-2A>C) c.2014-2A>C (n.2014-2A>C) c.2038-2A>C (n.2038-2A>C) c.2089-2A>C (n.2089-2A>C) c.1816-2A>C (n.1816-2A>C) c.2140-2A>C (n.2140-2A>C) c.2050-2A>C (n.2050-2A>C) c.2041-2A>C (n.2041-2A>C) | |
3 | g.123291379G>A | CA2667290373 | ADCY5 | c.1741-3C>T (n.1741-3C>T) c.2029-3C>T (n.2029-3C>T) n.1467-3C>T c.3139-3C>T (n.3139-3C>T) c.3064-3C>T (n.3064-3C>T) c.2014-3C>T (n.2014-3C>T) c.2038-3C>T (n.2038-3C>T) c.2089-3C>T (n.2089-3C>T) c.1816-3C>T (n.1816-3C>T) c.2140-3C>T (n.2140-3C>T) c.2050-3C>T (n.2050-3C>T) c.2041-3C>T (n.2041-3C>T) | gnomAD v4 |
3 | g.123291383_123291384del | CA2667290375 | ADCY5 | c.1741-4_1741-3del (n.1741-4_1741-3del) c.2029-4_2029-3del (n.2029-4_2029-3del) n.1467-4_1467-3del c.3139-4_3139-3del (n.3139-4_3139-3del) c.3064-4_3064-3del (n.3064-4_3064-3del) c.2014-4_2014-3del (n.2014-4_2014-3del) c.2038-4_2038-3del (n.2038-4_2038-3del) c.2089-4_2089-3del (n.2089-4_2089-3del) c.1816-4_1816-3del (n.1816-4_1816-3del) c.2140-4_2140-3del (n.2140-4_2140-3del) c.2050-4_2050-3del (n.2050-4_2050-3del) c.2041-4_2041-3del (n.2041-4_2041-3del) | gnomAD v4 |
3 | g.123291380A>G | CA2703963988 | ADCY5 | c.1741-4T>C (n.1741-4T>C) c.2029-4T>C (n.2029-4T>C) n.1467-4T>C c.3139-4T>C (n.3139-4T>C) c.3064-4T>C (n.3064-4T>C) c.2014-4T>C (n.2014-4T>C) c.2038-4T>C (n.2038-4T>C) c.2089-4T>C (n.2089-4T>C) c.1816-4T>C (n.1816-4T>C) c.2140-4T>C (n.2140-4T>C) c.2050-4T>C (n.2050-4T>C) c.2041-4T>C (n.2041-4T>C) | dbSNP |
3 | g.123291381G>A | CA2576853 | ADCY5 | c.1741-5C>T (n.1741-5C>T) c.2029-5C>T (n.2029-5C>T) n.1467-5C>T c.3139-5C>T (n.3139-5C>T) c.3064-5C>T (n.3064-5C>T) c.2014-5C>T (n.2014-5C>T) c.2038-5C>T (n.2038-5C>T) c.2089-5C>T (n.2089-5C>T) c.1816-5C>T (n.1816-5C>T) c.2140-5C>T (n.2140-5C>T) c.2050-5C>T (n.2050-5C>T) c.2041-5C>T (n.2041-5C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.123291381G>C | CA2667290380 | ADCY5 | c.1741-5C>G (n.1741-5C>G) c.2029-5C>G (n.2029-5C>G) n.1467-5C>G c.3139-5C>G (n.3139-5C>G) c.3064-5C>G (n.3064-5C>G) c.2014-5C>G (n.2014-5C>G) c.2038-5C>G (n.2038-5C>G) c.2089-5C>G (n.2089-5C>G) c.1816-5C>G (n.1816-5C>G) c.2140-5C>G (n.2140-5C>G) c.2050-5C>G (n.2050-5C>G) c.2041-5C>G (n.2041-5C>G) | gnomAD v4 |
3 | g.123291381G= | CA1398330464 | ADCY5 | c.1741-5C= (n.1741-5C=) c.2029-5C= (n.2029-5C=) n.1467-5C= c.3139-5C= (n.3139-5C=) c.3064-5C= (n.3064-5C=) c.2014-5C= (n.2014-5C=) c.2038-5C= (n.2038-5C=) c.2089-5C= (n.2089-5C=) c.1816-5C= (n.1816-5C=) c.2140-5C= (n.2140-5C=) c.2050-5C= (n.2050-5C=) c.2041-5C= (n.2041-5C=) | |
3 | g.123291382A= | CA1398330465 | ADCY5 | c.1741-6T= (n.1741-6T=) c.2029-6T= (n.2029-6T=) n.1467-6T= c.3139-6T= (n.3139-6T=) c.3064-6T= (n.3064-6T=) c.2014-6T= (n.2014-6T=) c.2038-6T= (n.2038-6T=) c.2089-6T= (n.2089-6T=) c.1816-6T= (n.1816-6T=) c.2140-6T= (n.2140-6T=) c.2050-6T= (n.2050-6T=) c.2041-6T= (n.2041-6T=) | |
3 | g.123291382A>G | CA545963882 | ADCY5 | c.1741-6T>C (n.1741-6T>C) c.2029-6T>C (n.2029-6T>C) n.1467-6T>C c.3139-6T>C (n.3139-6T>C) c.3064-6T>C (n.3064-6T>C) c.2014-6T>C (n.2014-6T>C) c.2038-6T>C (n.2038-6T>C) c.2089-6T>C (n.2089-6T>C) c.1816-6T>C (n.1816-6T>C) c.2140-6T>C (n.2140-6T>C) c.2050-6T>C (n.2050-6T>C) c.2041-6T>C (n.2041-6T>C) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.123291383G>A | CA2667290383 | ADCY5 | c.1741-7C>T (n.1741-7C>T) c.2029-7C>T (n.2029-7C>T) n.1467-7C>T c.3139-7C>T (n.3139-7C>T) c.3064-7C>T (n.3064-7C>T) c.2014-7C>T (n.2014-7C>T) c.2038-7C>T (n.2038-7C>T) c.2089-7C>T (n.2089-7C>T) c.1816-7C>T (n.1816-7C>T) c.2140-7C>T (n.2140-7C>T) c.2050-7C>T (n.2050-7C>T) c.2041-7C>T (n.2041-7C>T) | gnomAD v4 |
3 | g.123291384A= | CA1398330466 | ADCY5 | c.1741-8T= (n.1741-8T=) c.2029-8T= (n.2029-8T=) n.1467-8T= c.3139-8T= (n.3139-8T=) c.3064-8T= (n.3064-8T=) c.2014-8T= (n.2014-8T=) c.2038-8T= (n.2038-8T=) c.2089-8T= (n.2089-8T=) c.1816-8T= (n.1816-8T=) c.2140-8T= (n.2140-8T=) c.2050-8T= (n.2050-8T=) c.2041-8T= (n.2041-8T=) | |
3 | g.123291384A>G | CA2576854 | ADCY5 | c.1741-8T>C (n.1741-8T>C) c.2029-8T>C (n.2029-8T>C) n.1467-8T>C c.3139-8T>C (n.3139-8T>C) c.3064-8T>C (n.3064-8T>C) c.2014-8T>C (n.2014-8T>C) c.2038-8T>C (n.2038-8T>C) c.2089-8T>C (n.2089-8T>C) c.1816-8T>C (n.1816-8T>C) c.2140-8T>C (n.2140-8T>C) c.2050-8T>C (n.2050-8T>C) c.2041-8T>C (n.2041-8T>C) | dbSNP ExAC gnomAD v2 |
3 | g.123291388del | CA2667290384 | ADCY5 | c.1741-8del (n.1741-8del) c.2029-8del (n.2029-8del) n.1467-8del c.3139-8del (n.3139-8del) c.3064-8del (n.3064-8del) c.2014-8del (n.2014-8del) c.2038-8del (n.2038-8del) c.2089-8del (n.2089-8del) c.1816-8del (n.1816-8del) c.2140-8del (n.2140-8del) c.2050-8del (n.2050-8del) c.2041-8del (n.2041-8del) | gnomAD v4 |
3 | g.123291385A>G | CA2667290385 | ADCY5 | c.1741-9T>C (n.1741-9T>C) c.2029-9T>C (n.2029-9T>C) n.1467-9T>C c.3139-9T>C (n.3139-9T>C) c.3064-9T>C (n.3064-9T>C) c.2014-9T>C (n.2014-9T>C) c.2038-9T>C (n.2038-9T>C) c.2089-9T>C (n.2089-9T>C) c.1816-9T>C (n.1816-9T>C) c.2140-9T>C (n.2140-9T>C) c.2050-9T>C (n.2050-9T>C) c.2041-9T>C (n.2041-9T>C) | gnomAD v4 |
3 | g.123291386A= | CA1398330467 | ADCY5 | c.1741-10T= (n.1741-10T=) c.2029-10T= (n.2029-10T=) n.1467-10T= c.3139-10T= (n.3139-10T=) c.3064-10T= (n.3064-10T=) c.2014-10T= (n.2014-10T=) c.2038-10T= (n.2038-10T=) c.2089-10T= (n.2089-10T=) c.1816-10T= (n.1816-10T=) c.2140-10T= (n.2140-10T=) c.2050-10T= (n.2050-10T=) c.2041-10T= (n.2041-10T=) | |
3 | g.123291386A>G | CA2576855 | ADCY5 | c.1741-10T>C (n.1741-10T>C) c.2029-10T>C (n.2029-10T>C) n.1467-10T>C c.3139-10T>C (n.3139-10T>C) c.3064-10T>C (n.3064-10T>C) c.2014-10T>C (n.2014-10T>C) c.2038-10T>C (n.2038-10T>C) c.2089-10T>C (n.2089-10T>C) c.1816-10T>C (n.1816-10T>C) c.2140-10T>C (n.2140-10T>C) c.2050-10T>C (n.2050-10T>C) c.2041-10T>C (n.2041-10T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.123291387A= | CA1398330468 | ADCY5 | c.1741-11T= (n.1741-11T=) c.2029-11T= (n.2029-11T=) n.1467-11T= c.3139-11T= (n.3139-11T=) c.3064-11T= (n.3064-11T=) c.2014-11T= (n.2014-11T=) c.2038-11T= (n.2038-11T=) c.2089-11T= (n.2089-11T=) c.1816-11T= (n.1816-11T=) c.2140-11T= (n.2140-11T=) c.2050-11T= (n.2050-11T=) c.2041-11T= (n.2041-11T=) | |
3 | g.123291387A>C | CA2576856 | ADCY5 | c.1741-11T>G (n.1741-11T>G) c.2029-11T>G (n.2029-11T>G) n.1467-11T>G c.3139-11T>G (n.3139-11T>G) c.3064-11T>G (n.3064-11T>G) c.2014-11T>G (n.2014-11T>G) c.2038-11T>G (n.2038-11T>G) c.2089-11T>G (n.2089-11T>G) c.1816-11T>G (n.1816-11T>G) c.2140-11T>G (n.2140-11T>G) c.2050-11T>G (n.2050-11T>G) c.2041-11T>G (n.2041-11T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |