Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.123291160C>A | CA2576813 | ADCY5 | c.1957G>T (p.Val653Phe) c.2245G>T (p.Val749Phe) n.1683G>T c.3355G>T (p.Val1119Phe) c.3280G>T (p.Val1094Phe) c.2230G>T (p.Val744Phe) c.2254G>T (p.Val752Phe) c.2305G>T (p.Val769Phe) c.2032G>T (p.Val678Phe) c.2356G>T (p.Val786Phe) c.2266G>T (p.Val756Phe) c.2257G>T (p.Val753Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.123291160C= | CA1398330375 | ADCY5 | c.1957G= (p.Val653=) c.2245G= (p.Val749=) n.1683G= c.3355G= (p.Val1119=) c.3280G= (p.Val1094=) c.2230G= (p.Val744=) c.2254G= (p.Val752=) c.2305G= (p.Val769=) c.2032G= (p.Val678=) c.2356G= (p.Val786=) c.2266G= (p.Val756=) c.2257G= (p.Val753=) | |
3 | g.123291160C>G | CA354223418 | ADCY5 | c.1957G>C (p.Val653Leu) c.2245G>C (p.Val749Leu) n.1683G>C c.3355G>C (p.Val1119Leu) c.3280G>C (p.Val1094Leu) c.2230G>C (p.Val744Leu) c.2254G>C (p.Val752Leu) c.2305G>C (p.Val769Leu) c.2032G>C (p.Val678Leu) c.2356G>C (p.Val786Leu) c.2266G>C (p.Val756Leu) c.2257G>C (p.Val753Leu) | |
3 | g.123291160C>T | CA354223419 | ADCY5 | c.1957G>A (p.Val653Ile) c.2245G>A (p.Val749Ile) n.1683G>A c.3355G>A (p.Val1119Ile) c.3280G>A (p.Val1094Ile) c.2230G>A (p.Val744Ile) c.2254G>A (p.Val752Ile) c.2305G>A (p.Val769Ile) c.2032G>A (p.Val678Ile) c.2356G>A (p.Val786Ile) c.2266G>A (p.Val756Ile) c.2257G>A (p.Val753Ile) | |
3 | g.123291161A>C | CA435431331 | ADCY5 | c.1956T>G (p.Gly652=) c.2244T>G (p.Gly748=) n.1682T>G c.3354T>G (p.Gly1118=) c.3279T>G (p.Gly1093=) c.2229T>G (p.Gly743=) c.2253T>G (p.Gly751=) c.2304T>G (p.Gly768=) c.2031T>G (p.Gly677=) c.2355T>G (p.Gly785=) c.2265T>G (p.Gly755=) c.2256T>G (p.Gly752=) | |
3 | g.123291161A>G | CA435431332 | ADCY5 | c.1956T>C (p.Gly652=) c.2244T>C (p.Gly748=) n.1682T>C c.3354T>C (p.Gly1118=) c.3279T>C (p.Gly1093=) c.2229T>C (p.Gly743=) c.2253T>C (p.Gly751=) c.2304T>C (p.Gly768=) c.2031T>C (p.Gly677=) c.2355T>C (p.Gly785=) c.2265T>C (p.Gly755=) c.2256T>C (p.Gly752=) | |
3 | g.123291161A>T | CA435431333 | ADCY5 | c.1956T>A (p.Gly652=) c.2244T>A (p.Gly748=) n.1682T>A c.3354T>A (p.Gly1118=) c.3279T>A (p.Gly1093=) c.2229T>A (p.Gly743=) c.2253T>A (p.Gly751=) c.2304T>A (p.Gly768=) c.2031T>A (p.Gly677=) c.2355T>A (p.Gly785=) c.2265T>A (p.Gly755=) c.2256T>A (p.Gly752=) | |
3 | g.123291161_123291162delinsAC | CA1398330376 | ADCY5 | c.1955_1956delinsGT (p.Gly652=) c.2243_2244delinsGT (p.Gly748=) n.1681_1682delinsGT c.3353_3354delinsGT (p.Gly1118=) c.3278_3279delinsGT (p.Gly1093=) c.2228_2229delinsGT (p.Gly743=) c.2252_2253delinsGT (p.Gly751=) c.2303_2304delinsGT (p.Gly768=) c.2030_2031delinsGT (p.Gly677=) c.2354_2355delinsGT (p.Gly785=) c.2264_2265delinsGT (p.Gly755=) c.2255_2256delinsGT (p.Gly752=) | |
3 | g.123291162C>A | CA354223420 | ADCY5 | c.1955G>T (p.Gly652Val) c.2243G>T (p.Gly748Val) n.1681G>T c.3353G>T (p.Gly1118Val) c.3278G>T (p.Gly1093Val) c.2228G>T (p.Gly743Val) c.2252G>T (p.Gly751Val) c.2303G>T (p.Gly768Val) c.2030G>T (p.Gly677Val) c.2354G>T (p.Gly785Val) c.2264G>T (p.Gly755Val) c.2255G>T (p.Gly752Val) | |
3 | g.123291162C>G | CA354223421 | ADCY5 | c.1955G>C (p.Gly652Ala) c.2243G>C (p.Gly748Ala) n.1681G>C c.3353G>C (p.Gly1118Ala) c.3278G>C (p.Gly1093Ala) c.2228G>C (p.Gly743Ala) c.2252G>C (p.Gly751Ala) c.2303G>C (p.Gly768Ala) c.2030G>C (p.Gly677Ala) c.2354G>C (p.Gly785Ala) c.2264G>C (p.Gly755Ala) c.2255G>C (p.Gly752Ala) | |
3 | g.123291162C>T | CA354223422 | ADCY5 | c.1955G>A (p.Gly652Asp) c.2243G>A (p.Gly748Asp) n.1681G>A c.3353G>A (p.Gly1118Asp) c.3278G>A (p.Gly1093Asp) c.2228G>A (p.Gly743Asp) c.2252G>A (p.Gly751Asp) c.2303G>A (p.Gly768Asp) c.2030G>A (p.Gly677Asp) c.2354G>A (p.Gly785Asp) c.2264G>A (p.Gly755Asp) c.2255G>A (p.Gly752Asp) | |
3 | g.123291164del | CA2576814 | ADCY5 | c.1955del (p.Gly652ValfsTer?) c.2243del (p.Gly748ValfsTer?) n.1681del c.3353del (p.Gly1118ValfsTer?) c.3278del (p.Gly1093ValfsTer?) c.2228del (p.Gly743ValfsTer?) c.2252del (p.Gly751ValfsTer?) c.2303del (p.Gly768ValfsTer?) c.2030del (p.Gly677ValfsTer?) c.2354del (p.Gly785ValfsTer?) c.2264del (p.Gly755ValfsTer?) c.2255del (p.Gly752ValfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.123291163C>A | CA354223423 | ADCY5 | c.1954G>T (p.Gly652Cys) c.2242G>T (p.Gly748Cys) n.1680G>T c.3352G>T (p.Gly1118Cys) c.3277G>T (p.Gly1093Cys) c.2227G>T (p.Gly743Cys) c.2251G>T (p.Gly751Cys) c.2302G>T (p.Gly768Cys) c.2029G>T (p.Gly677Cys) c.2353G>T (p.Gly785Cys) c.2263G>T (p.Gly755Cys) c.2254G>T (p.Gly752Cys) | |
3 | g.123291163C= | CA1398330377 | ADCY5 | c.1954G= (p.Gly652=) c.2242G= (p.Gly748=) n.1680G= c.3352G= (p.Gly1118=) c.3277G= (p.Gly1093=) c.2227G= (p.Gly743=) c.2251G= (p.Gly751=) c.2302G= (p.Gly768=) c.2029G= (p.Gly677=) c.2353G= (p.Gly785=) c.2263G= (p.Gly755=) c.2254G= (p.Gly752=) | |
3 | g.123291163C>G | CA354223424 | ADCY5 | c.1954G>C (p.Gly652Arg) c.2242G>C (p.Gly748Arg) n.1680G>C c.3352G>C (p.Gly1118Arg) c.3277G>C (p.Gly1093Arg) c.2227G>C (p.Gly743Arg) c.2251G>C (p.Gly751Arg) c.2302G>C (p.Gly768Arg) c.2029G>C (p.Gly677Arg) c.2353G>C (p.Gly785Arg) c.2263G>C (p.Gly755Arg) c.2254G>C (p.Gly752Arg) | |
3 | g.123291163C>T | CA354223425 | ADCY5 | c.1954G>A (p.Gly652Ser) c.2242G>A (p.Gly748Ser) n.1680G>A c.3352G>A (p.Gly1118Ser) c.3277G>A (p.Gly1093Ser) c.2227G>A (p.Gly743Ser) c.2251G>A (p.Gly751Ser) c.2302G>A (p.Gly768Ser) c.2029G>A (p.Gly677Ser) c.2353G>A (p.Gly785Ser) c.2263G>A (p.Gly755Ser) c.2254G>A (p.Gly752Ser) | ClinVar dbSNP gnomAD v4 |
3 | g.123291164C>A | CA354223426 | ADCY5 | c.1953G>T (p.Glu651Asp) c.2241G>T (p.Glu747Asp) n.1679G>T c.3351G>T (p.Glu1117Asp) c.3276G>T (p.Glu1092Asp) c.2226G>T (p.Glu742Asp) c.2250G>T (p.Glu750Asp) c.2301G>T (p.Glu767Asp) c.2028G>T (p.Glu676Asp) c.2352G>T (p.Glu784Asp) c.2262G>T (p.Glu754Asp) c.2253G>T (p.Glu751Asp) | |
3 | g.123291164C>G | CA354223427 | ADCY5 | c.1953G>C (p.Glu651Asp) c.2241G>C (p.Glu747Asp) n.1679G>C c.3351G>C (p.Glu1117Asp) c.3276G>C (p.Glu1092Asp) c.2226G>C (p.Glu742Asp) c.2250G>C (p.Glu750Asp) c.2301G>C (p.Glu767Asp) c.2028G>C (p.Glu676Asp) c.2352G>C (p.Glu784Asp) c.2262G>C (p.Glu754Asp) c.2253G>C (p.Glu751Asp) | gnomAD v4 |
3 | g.123291164C>T | CA435431337 | ADCY5 | c.1953G>A (p.Glu651=) c.2241G>A (p.Glu747=) n.1679G>A c.3351G>A (p.Glu1117=) c.3276G>A (p.Glu1092=) c.2226G>A (p.Glu742=) c.2250G>A (p.Glu750=) c.2301G>A (p.Glu767=) c.2028G>A (p.Glu676=) c.2352G>A (p.Glu784=) c.2262G>A (p.Glu754=) c.2253G>A (p.Glu751=) | gnomAD v4 |
3 | g.123291165T>A | CA354223430 | ADCY5 | c.1952A>T (p.Glu651Val) c.2240A>T (p.Glu747Val) n.1678A>T c.3350A>T (p.Glu1117Val) c.3275A>T (p.Glu1092Val) c.2225A>T (p.Glu742Val) c.2249A>T (p.Glu750Val) c.2300A>T (p.Glu767Val) c.2027A>T (p.Glu676Val) c.2351A>T (p.Glu784Val) c.2261A>T (p.Glu754Val) c.2252A>T (p.Glu751Val) | |
3 | g.123291165T>C | CA354223429 | ADCY5 | c.1952A>G (p.Glu651Gly) c.2240A>G (p.Glu747Gly) n.1678A>G c.3350A>G (p.Glu1117Gly) c.3275A>G (p.Glu1092Gly) c.2225A>G (p.Glu742Gly) c.2249A>G (p.Glu750Gly) c.2300A>G (p.Glu767Gly) c.2027A>G (p.Glu676Gly) c.2351A>G (p.Glu784Gly) c.2261A>G (p.Glu754Gly) c.2252A>G (p.Glu751Gly) | |
3 | g.123291165T>G | CA354223428 | ADCY5 | c.1952A>C (p.Glu651Ala) c.2240A>C (p.Glu747Ala) n.1678A>C c.3350A>C (p.Glu1117Ala) c.3275A>C (p.Glu1092Ala) c.2225A>C (p.Glu742Ala) c.2249A>C (p.Glu750Ala) c.2300A>C (p.Glu767Ala) c.2027A>C (p.Glu676Ala) c.2351A>C (p.Glu784Ala) c.2261A>C (p.Glu754Ala) c.2252A>C (p.Glu751Ala) | |
3 | g.123291166C>A | CA354223431 | ADCY5 | c.1951G>T (p.Glu651Ter) c.2239G>T (p.Glu747Ter) n.1677G>T c.3349G>T (p.Glu1117Ter) c.3274G>T (p.Glu1092Ter) c.2224G>T (p.Glu742Ter) c.2248G>T (p.Glu750Ter) c.2299G>T (p.Glu767Ter) c.2026G>T (p.Glu676Ter) c.2350G>T (p.Glu784Ter) c.2260G>T (p.Glu754Ter) c.2251G>T (p.Glu751Ter) | dbSNP |
3 | g.123291166C= | CA1398330378 | ADCY5 | c.1951G= (p.Glu651=) c.2239G= (p.Glu747=) n.1677G= c.3349G= (p.Glu1117=) c.3274G= (p.Glu1092=) c.2224G= (p.Glu742=) c.2248G= (p.Glu750=) c.2299G= (p.Glu767=) c.2026G= (p.Glu676=) c.2350G= (p.Glu784=) c.2260G= (p.Glu754=) c.2251G= (p.Glu751=) | |
3 | g.123291166C>G | CA354223432 | ADCY5 | c.1951G>C (p.Glu651Gln) c.2239G>C (p.Glu747Gln) n.1677G>C c.3349G>C (p.Glu1117Gln) c.3274G>C (p.Glu1092Gln) c.2224G>C (p.Glu742Gln) c.2248G>C (p.Glu750Gln) c.2299G>C (p.Glu767Gln) c.2026G>C (p.Glu676Gln) c.2350G>C (p.Glu784Gln) c.2260G>C (p.Glu754Gln) c.2251G>C (p.Glu751Gln) | |
3 | g.123291166C>T | CA354223433 | ADCY5 | c.1951G>A (p.Glu651Lys) c.2239G>A (p.Glu747Lys) n.1677G>A c.3349G>A (p.Glu1117Lys) c.3274G>A (p.Glu1092Lys) c.2224G>A (p.Glu742Lys) c.2248G>A (p.Glu750Lys) c.2299G>A (p.Glu767Lys) c.2026G>A (p.Glu676Lys) c.2350G>A (p.Glu784Lys) c.2260G>A (p.Glu754Lys) c.2251G>A (p.Glu751Lys) | ClinVar dbSNP gnomAD v4 |
3 | g.123291167G>A | CA2576815 | ADCY5 | c.1950C>T (p.Asn650=) c.2238C>T (p.Asn746=) n.1676C>T c.3348C>T (p.Asn1116=) c.3273C>T (p.Asn1091=) c.2223C>T (p.Asn741=) c.2247C>T (p.Asn749=) c.2298C>T (p.Asn766=) c.2025C>T (p.Asn675=) c.2349C>T (p.Asn783=) c.2259C>T (p.Asn753=) c.2250C>T (p.Asn750=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.123291167G>C | CA354223434 | ADCY5 | c.1950C>G (p.Asn650Lys) c.2238C>G (p.Asn746Lys) n.1676C>G c.3348C>G (p.Asn1116Lys) c.3273C>G (p.Asn1091Lys) c.2223C>G (p.Asn741Lys) c.2247C>G (p.Asn749Lys) c.2298C>G (p.Asn766Lys) c.2025C>G (p.Asn675Lys) c.2349C>G (p.Asn783Lys) c.2259C>G (p.Asn753Lys) c.2250C>G (p.Asn750Lys) | |
3 | g.123291167G= | CA1398330379 | ADCY5 | c.1950C= (p.Asn650=) c.2238C= (p.Asn746=) n.1676C= c.3348C= (p.Asn1116=) c.3273C= (p.Asn1091=) c.2223C= (p.Asn741=) c.2247C= (p.Asn749=) c.2298C= (p.Asn766=) c.2025C= (p.Asn675=) c.2349C= (p.Asn783=) c.2259C= (p.Asn753=) c.2250C= (p.Asn750=) | |
3 | g.123291167G>T | CA354223435 | ADCY5 | c.1950C>A (p.Asn650Lys) c.2238C>A (p.Asn746Lys) n.1676C>A c.3348C>A (p.Asn1116Lys) c.3273C>A (p.Asn1091Lys) c.2223C>A (p.Asn741Lys) c.2247C>A (p.Asn749Lys) c.2298C>A (p.Asn766Lys) c.2025C>A (p.Asn675Lys) c.2349C>A (p.Asn783Lys) c.2259C>A (p.Asn753Lys) c.2250C>A (p.Asn750Lys) | |
3 | g.123291171_123291173del | CA2667290330 | ADCY5 | c.1948_1950del (p.Asn650del) c.2236_2238del (p.Asn746del) n.1674_1676del c.3346_3348del (p.Asn1116del) c.3271_3273del (p.Asn1091del) c.2221_2223del (p.Asn741del) c.2245_2247del (p.Asn749del) c.2296_2298del (p.Asn766del) c.2023_2025del (p.Asn675del) c.2347_2349del (p.Asn783del) c.2257_2259del (p.Asn753del) c.2248_2250del (p.Asn750del) | gnomAD v4 |
3 | g.123291168T>A | CA354223436 | ADCY5 | c.1949A>T (p.Asn650Ile) c.2237A>T (p.Asn746Ile) n.1675A>T c.3347A>T (p.Asn1116Ile) c.3272A>T (p.Asn1091Ile) c.2222A>T (p.Asn741Ile) c.2246A>T (p.Asn749Ile) c.2297A>T (p.Asn766Ile) c.2024A>T (p.Asn675Ile) c.2348A>T (p.Asn783Ile) c.2258A>T (p.Asn753Ile) c.2249A>T (p.Asn750Ile) | |
3 | g.123291168T>C | CA354223437 | ADCY5 | c.1949A>G (p.Asn650Ser) c.2237A>G (p.Asn746Ser) n.1675A>G c.3347A>G (p.Asn1116Ser) c.3272A>G (p.Asn1091Ser) c.2222A>G (p.Asn741Ser) c.2246A>G (p.Asn749Ser) c.2297A>G (p.Asn766Ser) c.2024A>G (p.Asn675Ser) c.2348A>G (p.Asn783Ser) c.2258A>G (p.Asn753Ser) c.2249A>G (p.Asn750Ser) | |
3 | g.123291168T>G | CA354223438 | ADCY5 | c.1949A>C (p.Asn650Thr) c.2237A>C (p.Asn746Thr) n.1675A>C c.3347A>C (p.Asn1116Thr) c.3272A>C (p.Asn1091Thr) c.2222A>C (p.Asn741Thr) c.2246A>C (p.Asn749Thr) c.2297A>C (p.Asn766Thr) c.2024A>C (p.Asn675Thr) c.2348A>C (p.Asn783Thr) c.2258A>C (p.Asn753Thr) c.2249A>C (p.Asn750Thr) | |
3 | g.123291169T>A | CA354223439 | ADCY5 | c.1948A>T (p.Asn650Tyr) c.2236A>T (p.Asn746Tyr) n.1674A>T c.3346A>T (p.Asn1116Tyr) c.3271A>T (p.Asn1091Tyr) c.2221A>T (p.Asn741Tyr) c.2245A>T (p.Asn749Tyr) c.2296A>T (p.Asn766Tyr) c.2023A>T (p.Asn675Tyr) c.2347A>T (p.Asn783Tyr) c.2257A>T (p.Asn753Tyr) c.2248A>T (p.Asn750Tyr) | |
3 | g.123291169T>C | CA354223440 | ADCY5 | c.1948A>G (p.Asn650Asp) c.2236A>G (p.Asn746Asp) n.1674A>G c.3346A>G (p.Asn1116Asp) c.3271A>G (p.Asn1091Asp) c.2221A>G (p.Asn741Asp) c.2245A>G (p.Asn749Asp) c.2296A>G (p.Asn766Asp) c.2023A>G (p.Asn675Asp) c.2347A>G (p.Asn783Asp) c.2257A>G (p.Asn753Asp) c.2248A>G (p.Asn750Asp) | |
3 | g.123291169T>G | CA354223441 | ADCY5 | c.1948A>C (p.Asn650His) c.2236A>C (p.Asn746His) n.1674A>C c.3346A>C (p.Asn1116His) c.3271A>C (p.Asn1091His) c.2221A>C (p.Asn741His) c.2245A>C (p.Asn749His) c.2296A>C (p.Asn766His) c.2023A>C (p.Asn675His) c.2347A>C (p.Asn783His) c.2257A>C (p.Asn753His) c.2248A>C (p.Asn750His) | |
3 | g.123291170G>A | CA435431339 | ADCY5 | c.1947C>T (p.Asn649=) c.2235C>T (p.Asn745=) n.1673C>T c.3345C>T (p.Asn1115=) c.3270C>T (p.Asn1090=) c.2220C>T (p.Asn740=) c.2244C>T (p.Asn748=) c.2295C>T (p.Asn765=) c.2022C>T (p.Asn674=) c.2346C>T (p.Asn782=) c.2256C>T (p.Asn752=) c.2247C>T (p.Asn749=) | |
3 | g.123291170G>C | CA354223442 | ADCY5 | c.1947C>G (p.Asn649Lys) c.2235C>G (p.Asn745Lys) n.1673C>G c.3345C>G (p.Asn1115Lys) c.3270C>G (p.Asn1090Lys) c.2220C>G (p.Asn740Lys) c.2244C>G (p.Asn748Lys) c.2295C>G (p.Asn765Lys) c.2022C>G (p.Asn674Lys) c.2346C>G (p.Asn782Lys) c.2256C>G (p.Asn752Lys) c.2247C>G (p.Asn749Lys) | |
3 | g.123291170G= | CA1398330380 | ADCY5 | c.1947C= (p.Asn649=) c.2235C= (p.Asn745=) n.1673C= c.3345C= (p.Asn1115=) c.3270C= (p.Asn1090=) c.2220C= (p.Asn740=) c.2244C= (p.Asn748=) c.2295C= (p.Asn765=) c.2022C= (p.Asn674=) c.2346C= (p.Asn782=) c.2256C= (p.Asn752=) c.2247C= (p.Asn749=) | |
3 | g.123291170G>T | CA354223443 | ADCY5 | c.1947C>A (p.Asn649Lys) c.2235C>A (p.Asn745Lys) n.1673C>A c.3345C>A (p.Asn1115Lys) c.3270C>A (p.Asn1090Lys) c.2220C>A (p.Asn740Lys) c.2244C>A (p.Asn748Lys) c.2295C>A (p.Asn765Lys) c.2022C>A (p.Asn674Lys) c.2346C>A (p.Asn782Lys) c.2256C>A (p.Asn752Lys) c.2247C>A (p.Asn749Lys) | dbSNP |
3 | g.123291171T>A | CA354223445 | ADCY5 | c.1946A>T (p.Asn649Ile) c.2234A>T (p.Asn745Ile) n.1672A>T c.3344A>T (p.Asn1115Ile) c.3269A>T (p.Asn1090Ile) c.2219A>T (p.Asn740Ile) c.2243A>T (p.Asn748Ile) c.2294A>T (p.Asn765Ile) c.2021A>T (p.Asn674Ile) c.2345A>T (p.Asn782Ile) c.2255A>T (p.Asn752Ile) c.2246A>T (p.Asn749Ile) | |
3 | g.123291171T>C | CA354223446 | ADCY5 | c.1946A>G (p.Asn649Ser) c.2234A>G (p.Asn745Ser) n.1672A>G c.3344A>G (p.Asn1115Ser) c.3269A>G (p.Asn1090Ser) c.2219A>G (p.Asn740Ser) c.2243A>G (p.Asn748Ser) c.2294A>G (p.Asn765Ser) c.2021A>G (p.Asn674Ser) c.2345A>G (p.Asn782Ser) c.2255A>G (p.Asn752Ser) c.2246A>G (p.Asn749Ser) | |
3 | g.123291171T>G | CA354223444 | ADCY5 | c.1946A>C (p.Asn649Thr) c.2234A>C (p.Asn745Thr) n.1672A>C c.3344A>C (p.Asn1115Thr) c.3269A>C (p.Asn1090Thr) c.2219A>C (p.Asn740Thr) c.2243A>C (p.Asn748Thr) c.2294A>C (p.Asn765Thr) c.2021A>C (p.Asn674Thr) c.2345A>C (p.Asn782Thr) c.2255A>C (p.Asn752Thr) c.2246A>C (p.Asn749Thr) | |
3 | g.123291172T>A | CA354223447 | ADCY5 | c.1945A>T (p.Asn649Tyr) c.2233A>T (p.Asn745Tyr) n.1671A>T c.3343A>T (p.Asn1115Tyr) c.3268A>T (p.Asn1090Tyr) c.2218A>T (p.Asn740Tyr) c.2242A>T (p.Asn748Tyr) c.2293A>T (p.Asn765Tyr) c.2020A>T (p.Asn674Tyr) c.2344A>T (p.Asn782Tyr) c.2254A>T (p.Asn752Tyr) c.2245A>T (p.Asn749Tyr) | |
3 | g.123291172T>C | CA354223448 | ADCY5 | c.1945A>G (p.Asn649Asp) c.2233A>G (p.Asn745Asp) n.1671A>G c.3343A>G (p.Asn1115Asp) c.3268A>G (p.Asn1090Asp) c.2218A>G (p.Asn740Asp) c.2242A>G (p.Asn748Asp) c.2293A>G (p.Asn765Asp) c.2020A>G (p.Asn674Asp) c.2344A>G (p.Asn782Asp) c.2254A>G (p.Asn752Asp) c.2245A>G (p.Asn749Asp) | |
3 | g.123291172T>G | CA354223449 | ADCY5 | c.1945A>C (p.Asn649His) c.2233A>C (p.Asn745His) n.1671A>C c.3343A>C (p.Asn1115His) c.3268A>C (p.Asn1090His) c.2218A>C (p.Asn740His) c.2242A>C (p.Asn748His) c.2293A>C (p.Asn765His) c.2020A>C (p.Asn674His) c.2344A>C (p.Asn782His) c.2254A>C (p.Asn752His) c.2245A>C (p.Asn749His) | |
3 | g.123291173G>A | CA435431345 | ADCY5 | c.1944C>T (p.Ala648=) c.2232C>T (p.Ala744=) n.1670C>T c.3342C>T (p.Ala1114=) c.3267C>T (p.Ala1089=) c.2217C>T (p.Ala739=) c.2241C>T (p.Ala747=) c.2292C>T (p.Ala764=) c.2019C>T (p.Ala673=) c.2343C>T (p.Ala781=) c.2253C>T (p.Ala751=) c.2244C>T (p.Ala748=) | |
3 | g.123291173G>C | CA82903985 | ADCY5 | c.1944C>G (p.Ala648=) c.2232C>G (p.Ala744=) n.1670C>G c.3342C>G (p.Ala1114=) c.3267C>G (p.Ala1089=) c.2217C>G (p.Ala739=) c.2241C>G (p.Ala747=) c.2292C>G (p.Ala764=) c.2019C>G (p.Ala673=) c.2343C>G (p.Ala781=) c.2253C>G (p.Ala751=) c.2244C>G (p.Ala748=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.123291173G= | CA1398330381 | ADCY5 | c.1944C= (p.Ala648=) c.2232C= (p.Ala744=) n.1670C= c.3342C= (p.Ala1114=) c.3267C= (p.Ala1089=) c.2217C= (p.Ala739=) c.2241C= (p.Ala747=) c.2292C= (p.Ala764=) c.2019C= (p.Ala673=) c.2343C= (p.Ala781=) c.2253C= (p.Ala751=) c.2244C= (p.Ala748=) | |
3 | g.123291173G>T | CA435431344 | ADCY5 | c.1944C>A (p.Ala648=) c.2232C>A (p.Ala744=) n.1670C>A c.3342C>A (p.Ala1114=) c.3267C>A (p.Ala1089=) c.2217C>A (p.Ala739=) c.2241C>A (p.Ala747=) c.2292C>A (p.Ala764=) c.2019C>A (p.Ala673=) c.2343C>A (p.Ala781=) c.2253C>A (p.Ala751=) c.2244C>A (p.Ala748=) | gnomAD v4 |
3 | g.123291174G>A | CA354223450 | ADCY5 | c.1943C>T (p.Ala648Val) c.2231C>T (p.Ala744Val) n.1669C>T c.3341C>T (p.Ala1114Val) c.3266C>T (p.Ala1089Val) c.2216C>T (p.Ala739Val) c.2240C>T (p.Ala747Val) c.2291C>T (p.Ala764Val) c.2018C>T (p.Ala673Val) c.2342C>T (p.Ala781Val) c.2252C>T (p.Ala751Val) c.2243C>T (p.Ala748Val) | COSMIC |
3 | g.123291174G>C | CA354223451 | ADCY5 | c.1943C>G (p.Ala648Gly) c.2231C>G (p.Ala744Gly) n.1669C>G c.3341C>G (p.Ala1114Gly) c.3266C>G (p.Ala1089Gly) c.2216C>G (p.Ala739Gly) c.2240C>G (p.Ala747Gly) c.2291C>G (p.Ala764Gly) c.2018C>G (p.Ala673Gly) c.2342C>G (p.Ala781Gly) c.2252C>G (p.Ala751Gly) c.2243C>G (p.Ala748Gly) | |
3 | g.123291174G>T | CA354223452 | ADCY5 | c.1943C>A (p.Ala648Asp) c.2231C>A (p.Ala744Asp) n.1669C>A c.3341C>A (p.Ala1114Asp) c.3266C>A (p.Ala1089Asp) c.2216C>A (p.Ala739Asp) c.2240C>A (p.Ala747Asp) c.2291C>A (p.Ala764Asp) c.2018C>A (p.Ala673Asp) c.2342C>A (p.Ala781Asp) c.2252C>A (p.Ala751Asp) c.2243C>A (p.Ala748Asp) | |
3 | g.123291175C>A | CA354223455 | ADCY5 | c.1942G>T (p.Ala648Ser) c.2230G>T (p.Ala744Ser) n.1668G>T c.3340G>T (p.Ala1114Ser) c.3265G>T (p.Ala1089Ser) c.2215G>T (p.Ala739Ser) c.2239G>T (p.Ala747Ser) c.2290G>T (p.Ala764Ser) c.2017G>T (p.Ala673Ser) c.2341G>T (p.Ala781Ser) c.2251G>T (p.Ala751Ser) c.2242G>T (p.Ala748Ser) | |
3 | g.123291175C>G | CA354223453 | ADCY5 | c.1942G>C (p.Ala648Pro) c.2230G>C (p.Ala744Pro) n.1668G>C c.3340G>C (p.Ala1114Pro) c.3265G>C (p.Ala1089Pro) c.2215G>C (p.Ala739Pro) c.2239G>C (p.Ala747Pro) c.2290G>C (p.Ala764Pro) c.2017G>C (p.Ala673Pro) c.2341G>C (p.Ala781Pro) c.2251G>C (p.Ala751Pro) c.2242G>C (p.Ala748Pro) | |
3 | g.123291175C>T | CA354223454 | ADCY5 | c.1942G>A (p.Ala648Thr) c.2230G>A (p.Ala744Thr) n.1668G>A c.3340G>A (p.Ala1114Thr) c.3265G>A (p.Ala1089Thr) c.2215G>A (p.Ala739Thr) c.2239G>A (p.Ala747Thr) c.2290G>A (p.Ala764Thr) c.2017G>A (p.Ala673Thr) c.2341G>A (p.Ala781Thr) c.2251G>A (p.Ala751Thr) c.2242G>A (p.Ala748Thr) | |
3 | g.123291176C>A | CA354223456 | ADCY5 | c.1941G>T (p.Glu647Asp) c.2229G>T (p.Glu743Asp) n.1667G>T c.3339G>T (p.Glu1113Asp) c.3264G>T (p.Glu1088Asp) c.2214G>T (p.Glu738Asp) c.2238G>T (p.Glu746Asp) c.2289G>T (p.Glu763Asp) c.2016G>T (p.Glu672Asp) c.2340G>T (p.Glu780Asp) c.2250G>T (p.Glu750Asp) c.2241G>T (p.Glu747Asp) | |
3 | g.123291176C>G | CA354223457 | ADCY5 | c.1941G>C (p.Glu647Asp) c.2229G>C (p.Glu743Asp) n.1667G>C c.3339G>C (p.Glu1113Asp) c.3264G>C (p.Glu1088Asp) c.2214G>C (p.Glu738Asp) c.2238G>C (p.Glu746Asp) c.2289G>C (p.Glu763Asp) c.2016G>C (p.Glu672Asp) c.2340G>C (p.Glu780Asp) c.2250G>C (p.Glu750Asp) c.2241G>C (p.Glu747Asp) | gnomAD v4 |
3 | g.123291176C>T | CA435431350 | ADCY5 | c.1941G>A (p.Glu647=) c.2229G>A (p.Glu743=) n.1667G>A c.3339G>A (p.Glu1113=) c.3264G>A (p.Glu1088=) c.2214G>A (p.Glu738=) c.2238G>A (p.Glu746=) c.2289G>A (p.Glu763=) c.2016G>A (p.Glu672=) c.2340G>A (p.Glu780=) c.2250G>A (p.Glu750=) c.2241G>A (p.Glu747=) | |
3 | g.123291177T>A | CA354223458 | ADCY5 | c.1940A>T (p.Glu647Val) c.2228A>T (p.Glu743Val) n.1666A>T c.3338A>T (p.Glu1113Val) c.3263A>T (p.Glu1088Val) c.2213A>T (p.Glu738Val) c.2237A>T (p.Glu746Val) c.2288A>T (p.Glu763Val) c.2015A>T (p.Glu672Val) c.2339A>T (p.Glu780Val) c.2249A>T (p.Glu750Val) c.2240A>T (p.Glu747Val) | |
3 | g.123291177T>C | CA354223459 | ADCY5 | c.1940A>G (p.Glu647Gly) c.2228A>G (p.Glu743Gly) n.1666A>G c.3338A>G (p.Glu1113Gly) c.3263A>G (p.Glu1088Gly) c.2213A>G (p.Glu738Gly) c.2237A>G (p.Glu746Gly) c.2288A>G (p.Glu763Gly) c.2015A>G (p.Glu672Gly) c.2339A>G (p.Glu780Gly) c.2249A>G (p.Glu750Gly) c.2240A>G (p.Glu747Gly) | |
3 | g.123291177T>G | CA354223460 | ADCY5 | c.1940A>C (p.Glu647Ala) c.2228A>C (p.Glu743Ala) n.1666A>C c.3338A>C (p.Glu1113Ala) c.3263A>C (p.Glu1088Ala) c.2213A>C (p.Glu738Ala) c.2237A>C (p.Glu746Ala) c.2288A>C (p.Glu763Ala) c.2015A>C (p.Glu672Ala) c.2339A>C (p.Glu780Ala) c.2249A>C (p.Glu750Ala) c.2240A>C (p.Glu747Ala) | |
3 | g.123291178C>A | CA354223461 | ADCY5 | c.1939G>T (p.Glu647Ter) c.2227G>T (p.Glu743Ter) n.1665G>T c.3337G>T (p.Glu1113Ter) c.3262G>T (p.Glu1088Ter) c.2212G>T (p.Glu738Ter) c.2236G>T (p.Glu746Ter) c.2287G>T (p.Glu763Ter) c.2014G>T (p.Glu672Ter) c.2338G>T (p.Glu780Ter) c.2248G>T (p.Glu750Ter) c.2239G>T (p.Glu747Ter) | dbSNP |
3 | g.123291178C= | CA1398330382 | ADCY5 | c.1939G= (p.Glu647=) c.2227G= (p.Glu743=) n.1665G= c.3337G= (p.Glu1113=) c.3262G= (p.Glu1088=) c.2212G= (p.Glu738=) c.2236G= (p.Glu746=) c.2287G= (p.Glu763=) c.2014G= (p.Glu672=) c.2338G= (p.Glu780=) c.2248G= (p.Glu750=) c.2239G= (p.Glu747=) | |
3 | g.123291178C>G | CA354223463 | ADCY5 | c.1939G>C (p.Glu647Gln) c.2227G>C (p.Glu743Gln) n.1665G>C c.3337G>C (p.Glu1113Gln) c.3262G>C (p.Glu1088Gln) c.2212G>C (p.Glu738Gln) c.2236G>C (p.Glu746Gln) c.2287G>C (p.Glu763Gln) c.2014G>C (p.Glu672Gln) c.2338G>C (p.Glu780Gln) c.2248G>C (p.Glu750Gln) c.2239G>C (p.Glu747Gln) | |
3 | g.123291178C>T | CA354223462 | ADCY5 | c.1939G>A (p.Glu647Lys) c.2227G>A (p.Glu743Lys) n.1665G>A c.3337G>A (p.Glu1113Lys) c.3262G>A (p.Glu1088Lys) c.2212G>A (p.Glu738Lys) c.2236G>A (p.Glu746Lys) c.2287G>A (p.Glu763Lys) c.2014G>A (p.Glu672Lys) c.2338G>A (p.Glu780Lys) c.2248G>A (p.Glu750Lys) c.2239G>A (p.Glu747Lys) | |
3 | g.123291179C>A | CA435431357 | ADCY5 | c.1938G>T (p.Leu646=) c.2226G>T (p.Leu742=) n.1664G>T c.3336G>T (p.Leu1112=) c.3261G>T (p.Leu1087=) c.2211G>T (p.Leu737=) c.2235G>T (p.Leu745=) c.2286G>T (p.Leu762=) c.2013G>T (p.Leu671=) c.2337G>T (p.Leu779=) c.2247G>T (p.Leu749=) c.2238G>T (p.Leu746=) | |
3 | g.123291179C>G | CA435431358 | ADCY5 | c.1938G>C (p.Leu646=) c.2226G>C (p.Leu742=) n.1664G>C c.3336G>C (p.Leu1112=) c.3261G>C (p.Leu1087=) c.2211G>C (p.Leu737=) c.2235G>C (p.Leu745=) c.2286G>C (p.Leu762=) c.2013G>C (p.Leu671=) c.2337G>C (p.Leu779=) c.2247G>C (p.Leu749=) c.2238G>C (p.Leu746=) | |
3 | g.123291179C>T | CA435431355 | ADCY5 | c.1938G>A (p.Leu646=) c.2226G>A (p.Leu742=) n.1664G>A c.3336G>A (p.Leu1112=) c.3261G>A (p.Leu1087=) c.2211G>A (p.Leu737=) c.2235G>A (p.Leu745=) c.2286G>A (p.Leu762=) c.2013G>A (p.Leu671=) c.2337G>A (p.Leu779=) c.2247G>A (p.Leu749=) c.2238G>A (p.Leu746=) | gnomAD v4 |
3 | g.123291180A>C | CA354223464 | ADCY5 | c.1937T>G (p.Leu646Arg) c.2225T>G (p.Leu742Arg) n.1663T>G c.3335T>G (p.Leu1112Arg) c.3260T>G (p.Leu1087Arg) c.2210T>G (p.Leu737Arg) c.2234T>G (p.Leu745Arg) c.2285T>G (p.Leu762Arg) c.2012T>G (p.Leu671Arg) c.2336T>G (p.Leu779Arg) c.2246T>G (p.Leu749Arg) c.2237T>G (p.Leu746Arg) | |
3 | g.123291180A>G | CA354223465 | ADCY5 | c.1937T>C (p.Leu646Pro) c.2225T>C (p.Leu742Pro) n.1663T>C c.3335T>C (p.Leu1112Pro) c.3260T>C (p.Leu1087Pro) c.2210T>C (p.Leu737Pro) c.2234T>C (p.Leu745Pro) c.2285T>C (p.Leu762Pro) c.2012T>C (p.Leu671Pro) c.2336T>C (p.Leu779Pro) c.2246T>C (p.Leu749Pro) c.2237T>C (p.Leu746Pro) | |
3 | g.123291180A>T | CA354223466 | ADCY5 | c.1937T>A (p.Leu646Gln) c.2225T>A (p.Leu742Gln) n.1663T>A c.3335T>A (p.Leu1112Gln) c.3260T>A (p.Leu1087Gln) c.2210T>A (p.Leu737Gln) c.2234T>A (p.Leu745Gln) c.2285T>A (p.Leu762Gln) c.2012T>A (p.Leu671Gln) c.2336T>A (p.Leu779Gln) c.2246T>A (p.Leu749Gln) c.2237T>A (p.Leu746Gln) | |
3 | g.123291181G>A | CA435431359 | ADCY5 | c.1936C>T (p.Leu646=) c.2224C>T (p.Leu742=) n.1662C>T c.3334C>T (p.Leu1112=) c.3259C>T (p.Leu1087=) c.2209C>T (p.Leu737=) c.2233C>T (p.Leu745=) c.2284C>T (p.Leu762=) c.2011C>T (p.Leu671=) c.2335C>T (p.Leu779=) c.2245C>T (p.Leu749=) c.2236C>T (p.Leu746=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.123291181G>C | CA354223467 | ADCY5 | c.1936C>G (p.Leu646Val) c.2224C>G (p.Leu742Val) n.1662C>G c.3334C>G (p.Leu1112Val) c.3259C>G (p.Leu1087Val) c.2209C>G (p.Leu737Val) c.2233C>G (p.Leu745Val) c.2284C>G (p.Leu762Val) c.2011C>G (p.Leu671Val) c.2335C>G (p.Leu779Val) c.2245C>G (p.Leu749Val) c.2236C>G (p.Leu746Val) | |
3 | g.123291181G>T | CA354223468 | ADCY5 | c.1936C>A (p.Leu646Met) c.2224C>A (p.Leu742Met) n.1662C>A c.3334C>A (p.Leu1112Met) c.3259C>A (p.Leu1087Met) c.2209C>A (p.Leu737Met) c.2233C>A (p.Leu745Met) c.2284C>A (p.Leu762Met) c.2011C>A (p.Leu671Met) c.2335C>A (p.Leu779Met) c.2245C>A (p.Leu749Met) c.2236C>A (p.Leu746Met) | |
3 | g.123291182C>A | CA354223469 | ADCY5 | c.1935G>T (p.Glu645Asp) c.2223G>T (p.Glu741Asp) n.1661G>T c.3333G>T (p.Glu1111Asp) c.3258G>T (p.Glu1086Asp) c.2208G>T (p.Glu736Asp) c.2232G>T (p.Glu744Asp) c.2283G>T (p.Glu761Asp) c.2010G>T (p.Glu670Asp) c.2334G>T (p.Glu778Asp) c.2244G>T (p.Glu748Asp) c.2235G>T (p.Glu745Asp) | |
3 | g.123291182C= | CA1398330383 | ADCY5 | c.1935G= (p.Glu645=) c.2223G= (p.Glu741=) n.1661G= c.3333G= (p.Glu1111=) c.3258G= (p.Glu1086=) c.2208G= (p.Glu736=) c.2232G= (p.Glu744=) c.2283G= (p.Glu761=) c.2010G= (p.Glu670=) c.2334G= (p.Glu778=) c.2244G= (p.Glu748=) c.2235G= (p.Glu745=) | |
3 | g.123291182C>G | CA354223470 | ADCY5 | c.1935G>C (p.Glu645Asp) c.2223G>C (p.Glu741Asp) n.1661G>C c.3333G>C (p.Glu1111Asp) c.3258G>C (p.Glu1086Asp) c.2208G>C (p.Glu736Asp) c.2232G>C (p.Glu744Asp) c.2283G>C (p.Glu761Asp) c.2010G>C (p.Glu670Asp) c.2334G>C (p.Glu778Asp) c.2244G>C (p.Glu748Asp) c.2235G>C (p.Glu745Asp) | |
3 | g.123291182C>T | CA2576816 | ADCY5 | c.1935G>A (p.Glu645=) c.2223G>A (p.Glu741=) n.1661G>A c.3333G>A (p.Glu1111=) c.3258G>A (p.Glu1086=) c.2208G>A (p.Glu736=) c.2232G>A (p.Glu744=) c.2283G>A (p.Glu761=) c.2010G>A (p.Glu670=) c.2334G>A (p.Glu778=) c.2244G>A (p.Glu748=) c.2235G>A (p.Glu745=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.123291183T>A | CA354223471 | ADCY5 | c.1934A>T (p.Glu645Val) c.2222A>T (p.Glu741Val) n.1660A>T c.3332A>T (p.Glu1111Val) c.3257A>T (p.Glu1086Val) c.2207A>T (p.Glu736Val) c.2231A>T (p.Glu744Val) c.2282A>T (p.Glu761Val) c.2009A>T (p.Glu670Val) c.2333A>T (p.Glu778Val) c.2243A>T (p.Glu748Val) c.2234A>T (p.Glu745Val) | |
3 | g.123291183T>C | CA354223472 | ADCY5 | c.1934A>G (p.Glu645Gly) c.2222A>G (p.Glu741Gly) n.1660A>G c.3332A>G (p.Glu1111Gly) c.3257A>G (p.Glu1086Gly) c.2207A>G (p.Glu736Gly) c.2231A>G (p.Glu744Gly) c.2282A>G (p.Glu761Gly) c.2009A>G (p.Glu670Gly) c.2333A>G (p.Glu778Gly) c.2243A>G (p.Glu748Gly) c.2234A>G (p.Glu745Gly) | |
3 | g.123291183T>G | CA354223473 | ADCY5 | c.1934A>C (p.Glu645Ala) c.2222A>C (p.Glu741Ala) n.1660A>C c.3332A>C (p.Glu1111Ala) c.3257A>C (p.Glu1086Ala) c.2207A>C (p.Glu736Ala) c.2231A>C (p.Glu744Ala) c.2282A>C (p.Glu761Ala) c.2009A>C (p.Glu670Ala) c.2333A>C (p.Glu778Ala) c.2243A>C (p.Glu748Ala) c.2234A>C (p.Glu745Ala) | |
3 | g.123291184C>A | CA354223475 | ADCY5 | c.1933G>T (p.Glu645Ter) c.2221G>T (p.Glu741Ter) n.1659G>T c.3331G>T (p.Glu1111Ter) c.3256G>T (p.Glu1086Ter) c.2206G>T (p.Glu736Ter) c.2230G>T (p.Glu744Ter) c.2281G>T (p.Glu761Ter) c.2008G>T (p.Glu670Ter) c.2332G>T (p.Glu778Ter) c.2242G>T (p.Glu748Ter) c.2233G>T (p.Glu745Ter) | dbSNP |
3 | g.123291184C= | CA1398330384 | ADCY5 | c.1933G= (p.Glu645=) c.2221G= (p.Glu741=) n.1659G= c.3331G= (p.Glu1111=) c.3256G= (p.Glu1086=) c.2206G= (p.Glu736=) c.2230G= (p.Glu744=) c.2281G= (p.Glu761=) c.2008G= (p.Glu670=) c.2332G= (p.Glu778=) c.2242G= (p.Glu748=) c.2233G= (p.Glu745=) | |
3 | g.123291184C>G | CA354223476 | ADCY5 | c.1933G>C (p.Glu645Gln) c.2221G>C (p.Glu741Gln) n.1659G>C c.3331G>C (p.Glu1111Gln) c.3256G>C (p.Glu1086Gln) c.2206G>C (p.Glu736Gln) c.2230G>C (p.Glu744Gln) c.2281G>C (p.Glu761Gln) c.2008G>C (p.Glu670Gln) c.2332G>C (p.Glu778Gln) c.2242G>C (p.Glu748Gln) c.2233G>C (p.Glu745Gln) | |
3 | g.123291184C>T | CA354223474 | ADCY5 | c.1933G>A (p.Glu645Lys) c.2221G>A (p.Glu741Lys) n.1659G>A c.3331G>A (p.Glu1111Lys) c.3256G>A (p.Glu1086Lys) c.2206G>A (p.Glu736Lys) c.2230G>A (p.Glu744Lys) c.2281G>A (p.Glu761Lys) c.2008G>A (p.Glu670Lys) c.2332G>A (p.Glu778Lys) c.2242G>A (p.Glu748Lys) c.2233G>A (p.Glu745Lys) | |
3 | g.123291185A>C | CA435431360 | ADCY5 | c.1932T>G (p.Val644=) c.2220T>G (p.Val740=) n.1658T>G c.3330T>G (p.Val1110=) c.3255T>G (p.Val1085=) c.2205T>G (p.Val735=) c.2229T>G (p.Val743=) c.2280T>G (p.Val760=) c.2007T>G (p.Val669=) c.2331T>G (p.Val777=) c.2241T>G (p.Val747=) c.2232T>G (p.Val744=) | |
3 | g.123291185A>G | CA435431361 | ADCY5 | c.1932T>C (p.Val644=) c.2220T>C (p.Val740=) n.1658T>C c.3330T>C (p.Val1110=) c.3255T>C (p.Val1085=) c.2205T>C (p.Val735=) c.2229T>C (p.Val743=) c.2280T>C (p.Val760=) c.2007T>C (p.Val669=) c.2331T>C (p.Val777=) c.2241T>C (p.Val747=) c.2232T>C (p.Val744=) | |
3 | g.123291185A>T | CA435431362 | ADCY5 | c.1932T>A (p.Val644=) c.2220T>A (p.Val740=) n.1658T>A c.3330T>A (p.Val1110=) c.3255T>A (p.Val1085=) c.2205T>A (p.Val735=) c.2229T>A (p.Val743=) c.2280T>A (p.Val760=) c.2007T>A (p.Val669=) c.2331T>A (p.Val777=) c.2241T>A (p.Val747=) c.2232T>A (p.Val744=) | |
3 | g.123291186A>C | CA354223478 | ADCY5 | c.1931T>G (p.Val644Gly) c.2219T>G (p.Val740Gly) n.1657T>G c.3329T>G (p.Val1110Gly) c.3254T>G (p.Val1085Gly) c.2204T>G (p.Val735Gly) c.2228T>G (p.Val743Gly) c.2279T>G (p.Val760Gly) c.2006T>G (p.Val669Gly) c.2330T>G (p.Val777Gly) c.2240T>G (p.Val747Gly) c.2231T>G (p.Val744Gly) | |
3 | g.123291186A>G | CA354223477 | ADCY5 | c.1931T>C (p.Val644Ala) c.2219T>C (p.Val740Ala) n.1657T>C c.3329T>C (p.Val1110Ala) c.3254T>C (p.Val1085Ala) c.2204T>C (p.Val735Ala) c.2228T>C (p.Val743Ala) c.2279T>C (p.Val760Ala) c.2006T>C (p.Val669Ala) c.2330T>C (p.Val777Ala) c.2240T>C (p.Val747Ala) c.2231T>C (p.Val744Ala) | |
3 | g.123291186A>T | CA354223479 | ADCY5 | c.1931T>A (p.Val644Asp) c.2219T>A (p.Val740Asp) n.1657T>A c.3329T>A (p.Val1110Asp) c.3254T>A (p.Val1085Asp) c.2204T>A (p.Val735Asp) c.2228T>A (p.Val743Asp) c.2279T>A (p.Val760Asp) c.2006T>A (p.Val669Asp) c.2330T>A (p.Val777Asp) c.2240T>A (p.Val747Asp) c.2231T>A (p.Val744Asp) | |
3 | g.123291187C>A | CA354223480 | ADCY5 | c.1930G>T (p.Val644Phe) c.2218G>T (p.Val740Phe) n.1656G>T c.3328G>T (p.Val1110Phe) c.3253G>T (p.Val1085Phe) c.2203G>T (p.Val735Phe) c.2227G>T (p.Val743Phe) c.2278G>T (p.Val760Phe) c.2005G>T (p.Val669Phe) c.2329G>T (p.Val777Phe) c.2239G>T (p.Val747Phe) c.2230G>T (p.Val744Phe) | |
3 | g.123291187C= | CA1398330385 | ADCY5 | c.1930G= (p.Val644=) c.2218G= (p.Val740=) n.1656G= c.3328G= (p.Val1110=) c.3253G= (p.Val1085=) c.2203G= (p.Val735=) c.2227G= (p.Val743=) c.2278G= (p.Val760=) c.2005G= (p.Val669=) c.2329G= (p.Val777=) c.2239G= (p.Val747=) c.2230G= (p.Val744=) | |
3 | g.123291187C>G | CA354223481 | ADCY5 | c.1930G>C (p.Val644Leu) c.2218G>C (p.Val740Leu) n.1656G>C c.3328G>C (p.Val1110Leu) c.3253G>C (p.Val1085Leu) c.2203G>C (p.Val735Leu) c.2227G>C (p.Val743Leu) c.2278G>C (p.Val760Leu) c.2005G>C (p.Val669Leu) c.2329G>C (p.Val777Leu) c.2239G>C (p.Val747Leu) c.2230G>C (p.Val744Leu) | |
3 | g.123291187C>T | CA2576817 | ADCY5 | c.1930G>A (p.Val644Ile) c.2218G>A (p.Val740Ile) n.1656G>A c.3328G>A (p.Val1110Ile) c.3253G>A (p.Val1085Ile) c.2203G>A (p.Val735Ile) c.2227G>A (p.Val743Ile) c.2278G>A (p.Val760Ile) c.2005G>A (p.Val669Ile) c.2329G>A (p.Val777Ile) c.2239G>A (p.Val747Ile) c.2230G>A (p.Val744Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.123291188G>A | CA2576818 | ADCY5 | c.1929C>T (p.Tyr643=) c.2217C>T (p.Tyr739=) n.1655C>T c.3327C>T (p.Tyr1109=) c.3252C>T (p.Tyr1084=) c.2202C>T (p.Tyr734=) c.2226C>T (p.Tyr742=) c.2277C>T (p.Tyr759=) c.2004C>T (p.Tyr668=) c.2328C>T (p.Tyr776=) c.2238C>T (p.Tyr746=) c.2229C>T (p.Tyr743=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.123291188G>C | CA354223482 | ADCY5 | c.1929C>G (p.Tyr643Ter) c.2217C>G (p.Tyr739Ter) n.1655C>G c.3327C>G (p.Tyr1109Ter) c.3252C>G (p.Tyr1084Ter) c.2202C>G (p.Tyr734Ter) c.2226C>G (p.Tyr742Ter) c.2277C>G (p.Tyr759Ter) c.2004C>G (p.Tyr668Ter) c.2328C>G (p.Tyr776Ter) c.2238C>G (p.Tyr746Ter) c.2229C>G (p.Tyr743Ter) | |
3 | g.123291188G= | CA1398330386 | ADCY5 | c.1929C= (p.Tyr643=) c.2217C= (p.Tyr739=) n.1655C= c.3327C= (p.Tyr1109=) c.3252C= (p.Tyr1084=) c.2202C= (p.Tyr734=) c.2226C= (p.Tyr742=) c.2277C= (p.Tyr759=) c.2004C= (p.Tyr668=) c.2328C= (p.Tyr776=) c.2238C= (p.Tyr746=) c.2229C= (p.Tyr743=) | |
3 | g.123291188G>T | CA354223483 | ADCY5 | c.1929C>A (p.Tyr643Ter) c.2217C>A (p.Tyr739Ter) n.1655C>A c.3327C>A (p.Tyr1109Ter) c.3252C>A (p.Tyr1084Ter) c.2202C>A (p.Tyr734Ter) c.2226C>A (p.Tyr742Ter) c.2277C>A (p.Tyr759Ter) c.2004C>A (p.Tyr668Ter) c.2328C>A (p.Tyr776Ter) c.2238C>A (p.Tyr746Ter) c.2229C>A (p.Tyr743Ter) | |
3 | g.123291189T>A | CA354223486 | ADCY5 | c.1928A>T (p.Tyr643Phe) c.2216A>T (p.Tyr739Phe) n.1654A>T c.3326A>T (p.Tyr1109Phe) c.3251A>T (p.Tyr1084Phe) c.2201A>T (p.Tyr734Phe) c.2225A>T (p.Tyr742Phe) c.2276A>T (p.Tyr759Phe) c.2003A>T (p.Tyr668Phe) c.2327A>T (p.Tyr776Phe) c.2237A>T (p.Tyr746Phe) c.2228A>T (p.Tyr743Phe) | |
3 | g.123291189T>C | CA354223484 | ADCY5 | c.1928A>G (p.Tyr643Cys) c.2216A>G (p.Tyr739Cys) n.1654A>G c.3326A>G (p.Tyr1109Cys) c.3251A>G (p.Tyr1084Cys) c.2201A>G (p.Tyr734Cys) c.2225A>G (p.Tyr742Cys) c.2276A>G (p.Tyr759Cys) c.2003A>G (p.Tyr668Cys) c.2327A>G (p.Tyr776Cys) c.2237A>G (p.Tyr746Cys) c.2228A>G (p.Tyr743Cys) | ClinVar dbSNP gnomAD v4 |
3 | g.123291189T>G | CA354223485 | ADCY5 | c.1928A>C (p.Tyr643Ser) c.2216A>C (p.Tyr739Ser) n.1654A>C c.3326A>C (p.Tyr1109Ser) c.3251A>C (p.Tyr1084Ser) c.2201A>C (p.Tyr734Ser) c.2225A>C (p.Tyr742Ser) c.2276A>C (p.Tyr759Ser) c.2003A>C (p.Tyr668Ser) c.2327A>C (p.Tyr776Ser) c.2237A>C (p.Tyr746Ser) c.2228A>C (p.Tyr743Ser) | |
3 | g.123291189T= | CA1398330387 | ADCY5 | c.1928A= (p.Tyr643=) c.2216A= (p.Tyr739=) n.1654A= c.3326A= (p.Tyr1109=) c.3251A= (p.Tyr1084=) c.2201A= (p.Tyr734=) c.2225A= (p.Tyr742=) c.2276A= (p.Tyr759=) c.2003A= (p.Tyr668=) c.2327A= (p.Tyr776=) c.2237A= (p.Tyr746=) c.2228A= (p.Tyr743=) | |
3 | g.123291190A>C | CA354223487 | ADCY5 | c.1927T>G (p.Tyr643Asp) c.2215T>G (p.Tyr739Asp) n.1653T>G c.3325T>G (p.Tyr1109Asp) c.3250T>G (p.Tyr1084Asp) c.2200T>G (p.Tyr734Asp) c.2224T>G (p.Tyr742Asp) c.2275T>G (p.Tyr759Asp) c.2002T>G (p.Tyr668Asp) c.2326T>G (p.Tyr776Asp) c.2236T>G (p.Tyr746Asp) c.2227T>G (p.Tyr743Asp) | |
3 | g.123291190A>G | CA354223488 | ADCY5 | c.1927T>C (p.Tyr643His) c.2215T>C (p.Tyr739His) n.1653T>C c.3325T>C (p.Tyr1109His) c.3250T>C (p.Tyr1084His) c.2200T>C (p.Tyr734His) c.2224T>C (p.Tyr742His) c.2275T>C (p.Tyr759His) c.2002T>C (p.Tyr668His) c.2326T>C (p.Tyr776His) c.2236T>C (p.Tyr746His) c.2227T>C (p.Tyr743His) | |
3 | g.123291190A>T | CA354223489 | ADCY5 | c.1927T>A (p.Tyr643Asn) c.2215T>A (p.Tyr739Asn) n.1653T>A c.3325T>A (p.Tyr1109Asn) c.3250T>A (p.Tyr1084Asn) c.2200T>A (p.Tyr734Asn) c.2224T>A (p.Tyr742Asn) c.2275T>A (p.Tyr759Asn) c.2002T>A (p.Tyr668Asn) c.2326T>A (p.Tyr776Asn) c.2236T>A (p.Tyr746Asn) c.2227T>A (p.Tyr743Asn) | |
3 | g.123291191G>A | CA435431365 | ADCY5 | c.1926C>T (p.Phe642=) c.2214C>T (p.Phe738=) n.1652C>T c.3324C>T (p.Phe1108=) c.3249C>T (p.Phe1083=) c.2199C>T (p.Phe733=) c.2223C>T (p.Phe741=) c.2274C>T (p.Phe758=) c.2001C>T (p.Phe667=) c.2325C>T (p.Phe775=) c.2235C>T (p.Phe745=) c.2226C>T (p.Phe742=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.123291191G>C | CA354223490 | ADCY5 | c.1926C>G (p.Phe642Leu) c.2214C>G (p.Phe738Leu) n.1652C>G c.3324C>G (p.Phe1108Leu) c.3249C>G (p.Phe1083Leu) c.2199C>G (p.Phe733Leu) c.2223C>G (p.Phe741Leu) c.2274C>G (p.Phe758Leu) c.2001C>G (p.Phe667Leu) c.2325C>G (p.Phe775Leu) c.2235C>G (p.Phe745Leu) c.2226C>G (p.Phe742Leu) | |
3 | g.123291191G= | CA1398330388 | ADCY5 | c.1926C= (p.Phe642=) c.2214C= (p.Phe738=) n.1652C= c.3324C= (p.Phe1108=) c.3249C= (p.Phe1083=) c.2199C= (p.Phe733=) c.2223C= (p.Phe741=) c.2274C= (p.Phe758=) c.2001C= (p.Phe667=) c.2325C= (p.Phe775=) c.2235C= (p.Phe745=) c.2226C= (p.Phe742=) | |
3 | g.123291191G>T | CA354223491 | ADCY5 | c.1926C>A (p.Phe642Leu) c.2214C>A (p.Phe738Leu) n.1652C>A c.3324C>A (p.Phe1108Leu) c.3249C>A (p.Phe1083Leu) c.2199C>A (p.Phe733Leu) c.2223C>A (p.Phe741Leu) c.2274C>A (p.Phe758Leu) c.2001C>A (p.Phe667Leu) c.2325C>A (p.Phe775Leu) c.2235C>A (p.Phe745Leu) c.2226C>A (p.Phe742Leu) | |
3 | g.123291192A>C | CA354223492 | ADCY5 | c.1925T>G (p.Phe642Cys) c.2213T>G (p.Phe738Cys) n.1651T>G c.3323T>G (p.Phe1108Cys) c.3248T>G (p.Phe1083Cys) c.2198T>G (p.Phe733Cys) c.2222T>G (p.Phe741Cys) c.2273T>G (p.Phe758Cys) c.2000T>G (p.Phe667Cys) c.2324T>G (p.Phe775Cys) c.2234T>G (p.Phe745Cys) c.2225T>G (p.Phe742Cys) | |
3 | g.123291192A>G | CA354223494 | ADCY5 | c.1925T>C (p.Phe642Ser) c.2213T>C (p.Phe738Ser) n.1651T>C c.3323T>C (p.Phe1108Ser) c.3248T>C (p.Phe1083Ser) c.2198T>C (p.Phe733Ser) c.2222T>C (p.Phe741Ser) c.2273T>C (p.Phe758Ser) c.2000T>C (p.Phe667Ser) c.2324T>C (p.Phe775Ser) c.2234T>C (p.Phe745Ser) c.2225T>C (p.Phe742Ser) | |
3 | g.123291192A>T | CA354223493 | ADCY5 | c.1925T>A (p.Phe642Tyr) c.2213T>A (p.Phe738Tyr) n.1651T>A c.3323T>A (p.Phe1108Tyr) c.3248T>A (p.Phe1083Tyr) c.2198T>A (p.Phe733Tyr) c.2222T>A (p.Phe741Tyr) c.2273T>A (p.Phe758Tyr) c.2000T>A (p.Phe667Tyr) c.2324T>A (p.Phe775Tyr) c.2234T>A (p.Phe745Tyr) c.2225T>A (p.Phe742Tyr) | |
3 | g.123291193A>C | CA354223495 | ADCY5 | c.1924T>G (p.Phe642Val) c.2212T>G (p.Phe738Val) n.1650T>G c.3322T>G (p.Phe1108Val) c.3247T>G (p.Phe1083Val) c.2197T>G (p.Phe733Val) c.2221T>G (p.Phe741Val) c.2272T>G (p.Phe758Val) c.1999T>G (p.Phe667Val) c.2323T>G (p.Phe775Val) c.2233T>G (p.Phe745Val) c.2224T>G (p.Phe742Val) | |
3 | g.123291193A>G | CA354223496 | ADCY5 | c.1924T>C (p.Phe642Leu) c.2212T>C (p.Phe738Leu) n.1650T>C c.3322T>C (p.Phe1108Leu) c.3247T>C (p.Phe1083Leu) c.2197T>C (p.Phe733Leu) c.2221T>C (p.Phe741Leu) c.2272T>C (p.Phe758Leu) c.1999T>C (p.Phe667Leu) c.2323T>C (p.Phe775Leu) c.2233T>C (p.Phe745Leu) c.2224T>C (p.Phe742Leu) | |
3 | g.123291193A>T | CA354223497 | ADCY5 | c.1924T>A (p.Phe642Ile) c.2212T>A (p.Phe738Ile) n.1650T>A c.3322T>A (p.Phe1108Ile) c.3247T>A (p.Phe1083Ile) c.2197T>A (p.Phe733Ile) c.2221T>A (p.Phe741Ile) c.2272T>A (p.Phe758Ile) c.1999T>A (p.Phe667Ile) c.2323T>A (p.Phe775Ile) c.2233T>A (p.Phe745Ile) c.2224T>A (p.Phe742Ile) | |
3 | g.123291194C>A | CA354223498 | ADCY5 | c.1923G>T (p.Glu641Asp) c.2211G>T (p.Glu737Asp) n.1649G>T c.3321G>T (p.Glu1107Asp) c.3246G>T (p.Glu1082Asp) c.2196G>T (p.Glu732Asp) c.2220G>T (p.Glu740Asp) c.2271G>T (p.Glu757Asp) c.1998G>T (p.Glu666Asp) c.2322G>T (p.Glu774Asp) c.2232G>T (p.Glu744Asp) c.2223G>T (p.Glu741Asp) | |
3 | g.123291194C>G | CA354223499 | ADCY5 | c.1923G>C (p.Glu641Asp) c.2211G>C (p.Glu737Asp) n.1649G>C c.3321G>C (p.Glu1107Asp) c.3246G>C (p.Glu1082Asp) c.2196G>C (p.Glu732Asp) c.2220G>C (p.Glu740Asp) c.2271G>C (p.Glu757Asp) c.1998G>C (p.Glu666Asp) c.2322G>C (p.Glu774Asp) c.2232G>C (p.Glu744Asp) c.2223G>C (p.Glu741Asp) | |
3 | g.123291194C>T | CA435431367 | ADCY5 | c.1923G>A (p.Glu641=) c.2211G>A (p.Glu737=) n.1649G>A c.3321G>A (p.Glu1107=) c.3246G>A (p.Glu1082=) c.2196G>A (p.Glu732=) c.2220G>A (p.Glu740=) c.2271G>A (p.Glu757=) c.1998G>A (p.Glu666=) c.2322G>A (p.Glu774=) c.2232G>A (p.Glu744=) c.2223G>A (p.Glu741=) | |
3 | g.123291195T>A | CA354223500 | ADCY5 | c.1922A>T (p.Glu641Val) c.2210A>T (p.Glu737Val) n.1648A>T c.3320A>T (p.Glu1107Val) c.3245A>T (p.Glu1082Val) c.2195A>T (p.Glu732Val) c.2219A>T (p.Glu740Val) c.2270A>T (p.Glu757Val) c.1997A>T (p.Glu666Val) c.2321A>T (p.Glu774Val) c.2231A>T (p.Glu744Val) c.2222A>T (p.Glu741Val) | |
3 | g.123291195T>C | CA354223501 | ADCY5 | c.1922A>G (p.Glu641Gly) c.2210A>G (p.Glu737Gly) n.1648A>G c.3320A>G (p.Glu1107Gly) c.3245A>G (p.Glu1082Gly) c.2195A>G (p.Glu732Gly) c.2219A>G (p.Glu740Gly) c.2270A>G (p.Glu757Gly) c.1997A>G (p.Glu666Gly) c.2321A>G (p.Glu774Gly) c.2231A>G (p.Glu744Gly) c.2222A>G (p.Glu741Gly) | COSMIC |
3 | g.123291195T>G | CA354223502 | ADCY5 | c.1922A>C (p.Glu641Ala) c.2210A>C (p.Glu737Ala) n.1648A>C c.3320A>C (p.Glu1107Ala) c.3245A>C (p.Glu1082Ala) c.2195A>C (p.Glu732Ala) c.2219A>C (p.Glu740Ala) c.2270A>C (p.Glu757Ala) c.1997A>C (p.Glu666Ala) c.2321A>C (p.Glu774Ala) c.2231A>C (p.Glu744Ala) c.2222A>C (p.Glu741Ala) | |
3 | g.123291196C>A | CA354223503 | ADCY5 | c.1921G>T (p.Glu641Ter) c.2209G>T (p.Glu737Ter) n.1647G>T c.3319G>T (p.Glu1107Ter) c.3244G>T (p.Glu1082Ter) c.2194G>T (p.Glu732Ter) c.2218G>T (p.Glu740Ter) c.2269G>T (p.Glu757Ter) c.1996G>T (p.Glu666Ter) c.2320G>T (p.Glu774Ter) c.2230G>T (p.Glu744Ter) c.2221G>T (p.Glu741Ter) | dbSNP |
3 | g.123291196C= | CA1398330389 | ADCY5 | c.1921G= (p.Glu641=) c.2209G= (p.Glu737=) n.1647G= c.3319G= (p.Glu1107=) c.3244G= (p.Glu1082=) c.2194G= (p.Glu732=) c.2218G= (p.Glu740=) c.2269G= (p.Glu757=) c.1996G= (p.Glu666=) c.2320G= (p.Glu774=) c.2230G= (p.Glu744=) c.2221G= (p.Glu741=) | |
3 | g.123291196C>G | CA354223504 | ADCY5 | c.1921G>C (p.Glu641Gln) c.2209G>C (p.Glu737Gln) n.1647G>C c.3319G>C (p.Glu1107Gln) c.3244G>C (p.Glu1082Gln) c.2194G>C (p.Glu732Gln) c.2218G>C (p.Glu740Gln) c.2269G>C (p.Glu757Gln) c.1996G>C (p.Glu666Gln) c.2320G>C (p.Glu774Gln) c.2230G>C (p.Glu744Gln) c.2221G>C (p.Glu741Gln) | |
3 | g.123291196C>T | CA2576819 | ADCY5 | c.1921G>A (p.Glu641Lys) c.2209G>A (p.Glu737Lys) n.1647G>A c.3319G>A (p.Glu1107Lys) c.3244G>A (p.Glu1082Lys) c.2194G>A (p.Glu732Lys) c.2218G>A (p.Glu740Lys) c.2269G>A (p.Glu757Lys) c.1996G>A (p.Glu666Lys) c.2320G>A (p.Glu774Lys) c.2230G>A (p.Glu744Lys) c.2221G>A (p.Glu741Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.123291197G>A | CA2576820 | ADCY5 | c.1920C>T (p.Ser640=) c.2208C>T (p.Ser736=) n.1646C>T c.3318C>T (p.Ser1106=) c.3243C>T (p.Ser1081=) c.2193C>T (p.Ser731=) c.2217C>T (p.Ser739=) c.2268C>T (p.Ser756=) c.1995C>T (p.Ser665=) c.2319C>T (p.Ser773=) c.2229C>T (p.Ser743=) c.2220C>T (p.Ser740=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.123291197G>C | CA435431370 | ADCY5 | c.1920C>G (p.Ser640=) c.2208C>G (p.Ser736=) n.1646C>G c.3318C>G (p.Ser1106=) c.3243C>G (p.Ser1081=) c.2193C>G (p.Ser731=) c.2217C>G (p.Ser739=) c.2268C>G (p.Ser756=) c.1995C>G (p.Ser665=) c.2319C>G (p.Ser773=) c.2229C>G (p.Ser743=) c.2220C>G (p.Ser740=) | |
3 | g.123291197G= | CA1398330390 | ADCY5 | c.1920C= (p.Ser640=) c.2208C= (p.Ser736=) n.1646C= c.3318C= (p.Ser1106=) c.3243C= (p.Ser1081=) c.2193C= (p.Ser731=) c.2217C= (p.Ser739=) c.2268C= (p.Ser756=) c.1995C= (p.Ser665=) c.2319C= (p.Ser773=) c.2229C= (p.Ser743=) c.2220C= (p.Ser740=) | |
3 | g.123291197G>T | CA435431369 | ADCY5 | c.1920C>A (p.Ser640=) c.2208C>A (p.Ser736=) n.1646C>A c.3318C>A (p.Ser1106=) c.3243C>A (p.Ser1081=) c.2193C>A (p.Ser731=) c.2217C>A (p.Ser739=) c.2268C>A (p.Ser756=) c.1995C>A (p.Ser665=) c.2319C>A (p.Ser773=) c.2229C>A (p.Ser743=) c.2220C>A (p.Ser740=) | |
3 | g.123291198G>A | CA354223507 | ADCY5 | c.1919C>T (p.Ser640Phe) c.2207C>T (p.Ser736Phe) n.1645C>T c.3317C>T (p.Ser1106Phe) c.3242C>T (p.Ser1081Phe) c.2192C>T (p.Ser731Phe) c.2216C>T (p.Ser739Phe) c.2267C>T (p.Ser756Phe) c.1994C>T (p.Ser665Phe) c.2318C>T (p.Ser773Phe) c.2228C>T (p.Ser743Phe) c.2219C>T (p.Ser740Phe) | ClinVar dbSNP gnomAD v4 |
3 | g.123291198G>C | CA354223505 | ADCY5 | c.1919C>G (p.Ser640Cys) c.2207C>G (p.Ser736Cys) n.1645C>G c.3317C>G (p.Ser1106Cys) c.3242C>G (p.Ser1081Cys) c.2192C>G (p.Ser731Cys) c.2216C>G (p.Ser739Cys) c.2267C>G (p.Ser756Cys) c.1994C>G (p.Ser665Cys) c.2318C>G (p.Ser773Cys) c.2228C>G (p.Ser743Cys) c.2219C>G (p.Ser740Cys) | |
3 | g.123291198G= | CA1398330391 | ADCY5 | c.1919C= (p.Ser640=) c.2207C= (p.Ser736=) n.1645C= c.3317C= (p.Ser1106=) c.3242C= (p.Ser1081=) c.2192C= (p.Ser731=) c.2216C= (p.Ser739=) c.2267C= (p.Ser756=) c.1994C= (p.Ser665=) c.2318C= (p.Ser773=) c.2228C= (p.Ser743=) c.2219C= (p.Ser740=) | |
3 | g.123291198G>T | CA354223506 | ADCY5 | c.1919C>A (p.Ser640Tyr) c.2207C>A (p.Ser736Tyr) n.1645C>A c.3317C>A (p.Ser1106Tyr) c.3242C>A (p.Ser1081Tyr) c.2192C>A (p.Ser731Tyr) c.2216C>A (p.Ser739Tyr) c.2267C>A (p.Ser756Tyr) c.1994C>A (p.Ser665Tyr) c.2318C>A (p.Ser773Tyr) c.2228C>A (p.Ser743Tyr) c.2219C>A (p.Ser740Tyr) | |
3 | g.123291199A>C | CA354223508 | ADCY5 | c.1918T>G (p.Ser640Ala) c.2206T>G (p.Ser736Ala) n.1644T>G c.3316T>G (p.Ser1106Ala) c.3241T>G (p.Ser1081Ala) c.2191T>G (p.Ser731Ala) c.2215T>G (p.Ser739Ala) c.2266T>G (p.Ser756Ala) c.1993T>G (p.Ser665Ala) c.2317T>G (p.Ser773Ala) c.2227T>G (p.Ser743Ala) c.2218T>G (p.Ser740Ala) | |
3 | g.123291199A>G | CA354223509 | ADCY5 | c.1918T>C (p.Ser640Pro) c.2206T>C (p.Ser736Pro) n.1644T>C c.3316T>C (p.Ser1106Pro) c.3241T>C (p.Ser1081Pro) c.2191T>C (p.Ser731Pro) c.2215T>C (p.Ser739Pro) c.2266T>C (p.Ser756Pro) c.1993T>C (p.Ser665Pro) c.2317T>C (p.Ser773Pro) c.2227T>C (p.Ser743Pro) c.2218T>C (p.Ser740Pro) | |
3 | g.123291199A>T | CA354223510 | ADCY5 | c.1918T>A (p.Ser640Thr) c.2206T>A (p.Ser736Thr) n.1644T>A c.3316T>A (p.Ser1106Thr) c.3241T>A (p.Ser1081Thr) c.2191T>A (p.Ser731Thr) c.2215T>A (p.Ser739Thr) c.2266T>A (p.Ser756Thr) c.1993T>A (p.Ser665Thr) c.2317T>A (p.Ser773Thr) c.2227T>A (p.Ser743Thr) c.2218T>A (p.Ser740Thr) | |
3 | g.123291200G>A | CA435431373 | ADCY5 | c.1917C>T (p.Phe639=) c.2205C>T (p.Phe735=) n.1643C>T c.3315C>T (p.Phe1105=) c.3240C>T (p.Phe1080=) c.2190C>T (p.Phe730=) c.2214C>T (p.Phe738=) c.2265C>T (p.Phe755=) c.1992C>T (p.Phe664=) c.2316C>T (p.Phe772=) c.2226C>T (p.Phe742=) c.2217C>T (p.Phe739=) | COSMIC |
3 | g.123291200G>C | CA354223511 | ADCY5 | c.1917C>G (p.Phe639Leu) c.2205C>G (p.Phe735Leu) n.1643C>G c.3315C>G (p.Phe1105Leu) c.3240C>G (p.Phe1080Leu) c.2190C>G (p.Phe730Leu) c.2214C>G (p.Phe738Leu) c.2265C>G (p.Phe755Leu) c.1992C>G (p.Phe664Leu) c.2316C>G (p.Phe772Leu) c.2226C>G (p.Phe742Leu) c.2217C>G (p.Phe739Leu) | |
3 | g.123291200G>T | CA354223512 | ADCY5 | c.1917C>A (p.Phe639Leu) c.2205C>A (p.Phe735Leu) n.1643C>A c.3315C>A (p.Phe1105Leu) c.3240C>A (p.Phe1080Leu) c.2190C>A (p.Phe730Leu) c.2214C>A (p.Phe738Leu) c.2265C>A (p.Phe755Leu) c.1992C>A (p.Phe664Leu) c.2316C>A (p.Phe772Leu) c.2226C>A (p.Phe742Leu) c.2217C>A (p.Phe739Leu) | |
3 | g.123291201A>C | CA354223513 | ADCY5 | c.1916T>G (p.Phe639Cys) c.2204T>G (p.Phe735Cys) n.1642T>G c.3314T>G (p.Phe1105Cys) c.3239T>G (p.Phe1080Cys) c.2189T>G (p.Phe730Cys) c.2213T>G (p.Phe738Cys) c.2264T>G (p.Phe755Cys) c.1991T>G (p.Phe664Cys) c.2315T>G (p.Phe772Cys) c.2225T>G (p.Phe742Cys) c.2216T>G (p.Phe739Cys) | |
3 | g.123291201A>G | CA354223514 | ADCY5 | c.1916T>C (p.Phe639Ser) c.2204T>C (p.Phe735Ser) n.1642T>C c.3314T>C (p.Phe1105Ser) c.3239T>C (p.Phe1080Ser) c.2189T>C (p.Phe730Ser) c.2213T>C (p.Phe738Ser) c.2264T>C (p.Phe755Ser) c.1991T>C (p.Phe664Ser) c.2315T>C (p.Phe772Ser) c.2225T>C (p.Phe742Ser) c.2216T>C (p.Phe739Ser) | |
3 | g.123291201A>T | CA354223515 | ADCY5 | c.1916T>A (p.Phe639Tyr) c.2204T>A (p.Phe735Tyr) n.1642T>A c.3314T>A (p.Phe1105Tyr) c.3239T>A (p.Phe1080Tyr) c.2189T>A (p.Phe730Tyr) c.2213T>A (p.Phe738Tyr) c.2264T>A (p.Phe755Tyr) c.1991T>A (p.Phe664Tyr) c.2315T>A (p.Phe772Tyr) c.2225T>A (p.Phe742Tyr) c.2216T>A (p.Phe739Tyr) | |
3 | g.123291202A>C | CA354223516 | ADCY5 | c.1915T>G (p.Phe639Val) c.2203T>G (p.Phe735Val) n.1641T>G c.3313T>G (p.Phe1105Val) c.3238T>G (p.Phe1080Val) c.2188T>G (p.Phe730Val) c.2212T>G (p.Phe738Val) c.2263T>G (p.Phe755Val) c.1990T>G (p.Phe664Val) c.2314T>G (p.Phe772Val) c.2224T>G (p.Phe742Val) c.2215T>G (p.Phe739Val) | |
3 | g.123291202A>G | CA354223517 | ADCY5 | c.1915T>C (p.Phe639Leu) c.2203T>C (p.Phe735Leu) n.1641T>C c.3313T>C (p.Phe1105Leu) c.3238T>C (p.Phe1080Leu) c.2188T>C (p.Phe730Leu) c.2212T>C (p.Phe738Leu) c.2263T>C (p.Phe755Leu) c.1990T>C (p.Phe664Leu) c.2314T>C (p.Phe772Leu) c.2224T>C (p.Phe742Leu) c.2215T>C (p.Phe739Leu) | |
3 | g.123291202A>T | CA354223518 | ADCY5 | c.1915T>A (p.Phe639Ile) c.2203T>A (p.Phe735Ile) n.1641T>A c.3313T>A (p.Phe1105Ile) c.3238T>A (p.Phe1080Ile) c.2188T>A (p.Phe730Ile) c.2212T>A (p.Phe738Ile) c.2263T>A (p.Phe755Ile) c.1990T>A (p.Phe664Ile) c.2314T>A (p.Phe772Ile) c.2224T>A (p.Phe742Ile) c.2215T>A (p.Phe739Ile) | |
3 | g.123291203G>A | CA435431378 | ADCY5 | c.1914C>T (p.Asn638=) c.2202C>T (p.Asn734=) n.1640C>T c.3312C>T (p.Asn1104=) c.3237C>T (p.Asn1079=) c.2187C>T (p.Asn729=) c.2211C>T (p.Asn737=) c.2262C>T (p.Asn754=) c.1989C>T (p.Asn663=) c.2313C>T (p.Asn771=) c.2223C>T (p.Asn741=) c.2214C>T (p.Asn738=) | COSMIC |
3 | g.123291203G>C | CA354223520 | ADCY5 | c.1914C>G (p.Asn638Lys) c.2202C>G (p.Asn734Lys) n.1640C>G c.3312C>G (p.Asn1104Lys) c.3237C>G (p.Asn1079Lys) c.2187C>G (p.Asn729Lys) c.2211C>G (p.Asn737Lys) c.2262C>G (p.Asn754Lys) c.1989C>G (p.Asn663Lys) c.2313C>G (p.Asn771Lys) c.2223C>G (p.Asn741Lys) c.2214C>G (p.Asn738Lys) | gnomAD v4 |
3 | g.123291203G>T | CA354223519 | ADCY5 | c.1914C>A (p.Asn638Lys) c.2202C>A (p.Asn734Lys) n.1640C>A c.3312C>A (p.Asn1104Lys) c.3237C>A (p.Asn1079Lys) c.2187C>A (p.Asn729Lys) c.2211C>A (p.Asn737Lys) c.2262C>A (p.Asn754Lys) c.1989C>A (p.Asn663Lys) c.2313C>A (p.Asn771Lys) c.2223C>A (p.Asn741Lys) c.2214C>A (p.Asn738Lys) | COSMIC |
3 | g.123291204T>A | CA354223521 | ADCY5 | c.1913A>T (p.Asn638Ile) c.2201A>T (p.Asn734Ile) n.1639A>T c.3311A>T (p.Asn1104Ile) c.3236A>T (p.Asn1079Ile) c.2186A>T (p.Asn729Ile) c.2210A>T (p.Asn737Ile) c.2261A>T (p.Asn754Ile) c.1988A>T (p.Asn663Ile) c.2312A>T (p.Asn771Ile) c.2222A>T (p.Asn741Ile) c.2213A>T (p.Asn738Ile) | |
3 | g.123291204T>C | CA2576821 | ADCY5 | c.1913A>G (p.Asn638Ser) c.2201A>G (p.Asn734Ser) n.1639A>G c.3311A>G (p.Asn1104Ser) c.3236A>G (p.Asn1079Ser) c.2186A>G (p.Asn729Ser) c.2210A>G (p.Asn737Ser) c.2261A>G (p.Asn754Ser) c.1988A>G (p.Asn663Ser) c.2312A>G (p.Asn771Ser) c.2222A>G (p.Asn741Ser) c.2213A>G (p.Asn738Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
3 | g.123291204T>G | CA354223522 | ADCY5 | c.1913A>C (p.Asn638Thr) c.2201A>C (p.Asn734Thr) n.1639A>C c.3311A>C (p.Asn1104Thr) c.3236A>C (p.Asn1079Thr) c.2186A>C (p.Asn729Thr) c.2210A>C (p.Asn737Thr) c.2261A>C (p.Asn754Thr) c.1988A>C (p.Asn663Thr) c.2312A>C (p.Asn771Thr) c.2222A>C (p.Asn741Thr) c.2213A>C (p.Asn738Thr) | |
3 | g.123291204T= | CA1398330392 | ADCY5 | c.1913A= (p.Asn638=) c.2201A= (p.Asn734=) n.1639A= c.3311A= (p.Asn1104=) c.3236A= (p.Asn1079=) c.2186A= (p.Asn729=) c.2210A= (p.Asn737=) c.2261A= (p.Asn754=) c.1988A= (p.Asn663=) c.2312A= (p.Asn771=) c.2222A= (p.Asn741=) c.2213A= (p.Asn738=) | |
3 | g.123291205T>A | CA354223523 | ADCY5 | c.1912A>T (p.Asn638Tyr) c.2200A>T (p.Asn734Tyr) n.1638A>T c.3310A>T (p.Asn1104Tyr) c.3235A>T (p.Asn1079Tyr) c.2185A>T (p.Asn729Tyr) c.2209A>T (p.Asn737Tyr) c.2260A>T (p.Asn754Tyr) c.1987A>T (p.Asn663Tyr) c.2311A>T (p.Asn771Tyr) c.2221A>T (p.Asn741Tyr) c.2212A>T (p.Asn738Tyr) | |
3 | g.123291205T>C | CA354223524 | ADCY5 | c.1912A>G (p.Asn638Asp) c.2200A>G (p.Asn734Asp) n.1638A>G c.3310A>G (p.Asn1104Asp) c.3235A>G (p.Asn1079Asp) c.2185A>G (p.Asn729Asp) c.2209A>G (p.Asn737Asp) c.2260A>G (p.Asn754Asp) c.1987A>G (p.Asn663Asp) c.2311A>G (p.Asn771Asp) c.2221A>G (p.Asn741Asp) c.2212A>G (p.Asn738Asp) | |
3 | g.123291205T>G | CA354223525 | ADCY5 | c.1912A>C (p.Asn638His) c.2200A>C (p.Asn734His) n.1638A>C c.3310A>C (p.Asn1104His) c.3235A>C (p.Asn1079His) c.2185A>C (p.Asn729His) c.2209A>C (p.Asn737His) c.2260A>C (p.Asn754His) c.1987A>C (p.Asn663His) c.2311A>C (p.Asn771His) c.2221A>C (p.Asn741His) c.2212A>C (p.Asn738His) | |
3 | g.123291206G>A | CA435431379 | ADCY5 | c.1911C>T (p.Ala637=) c.2199C>T (p.Ala733=) n.1637C>T c.3309C>T (p.Ala1103=) c.3234C>T (p.Ala1078=) c.2184C>T (p.Ala728=) c.2208C>T (p.Ala736=) c.2259C>T (p.Ala753=) c.1986C>T (p.Ala662=) c.2310C>T (p.Ala770=) c.2220C>T (p.Ala740=) c.2211C>T (p.Ala737=) | |
3 | g.123291206G>C | CA435431380 | ADCY5 | c.1911C>G (p.Ala637=) c.2199C>G (p.Ala733=) n.1637C>G c.3309C>G (p.Ala1103=) c.3234C>G (p.Ala1078=) c.2184C>G (p.Ala728=) c.2208C>G (p.Ala736=) c.2259C>G (p.Ala753=) c.1986C>G (p.Ala662=) c.2310C>G (p.Ala770=) c.2220C>G (p.Ala740=) c.2211C>G (p.Ala737=) | |
3 | g.123291206G= | CA1398330393 | ADCY5 | c.1911C= (p.Ala637=) c.2199C= (p.Ala733=) n.1637C= c.3309C= (p.Ala1103=) c.3234C= (p.Ala1078=) c.2184C= (p.Ala728=) c.2208C= (p.Ala736=) c.2259C= (p.Ala753=) c.1986C= (p.Ala662=) c.2310C= (p.Ala770=) c.2220C= (p.Ala740=) c.2211C= (p.Ala737=) | |
3 | g.123291206G>T | CA2576822 | ADCY5 | c.1911C>A (p.Ala637=) c.2199C>A (p.Ala733=) n.1637C>A c.3309C>A (p.Ala1103=) c.3234C>A (p.Ala1078=) c.2184C>A (p.Ala728=) c.2208C>A (p.Ala736=) c.2259C>A (p.Ala753=) c.1986C>A (p.Ala662=) c.2310C>A (p.Ala770=) c.2220C>A (p.Ala740=) c.2211C>A (p.Ala737=) | ClinVar dbSNP ExAC gnomAD v2 COSMIC |
3 | g.123291207G>A | CA354223526 | ADCY5 | c.1910C>T (p.Ala637Val) c.2198C>T (p.Ala733Val) n.1636C>T c.3308C>T (p.Ala1103Val) c.3233C>T (p.Ala1078Val) c.2183C>T (p.Ala728Val) c.2207C>T (p.Ala736Val) c.2258C>T (p.Ala753Val) c.1985C>T (p.Ala662Val) c.2309C>T (p.Ala770Val) c.2219C>T (p.Ala740Val) c.2210C>T (p.Ala737Val) | |
3 | g.123291207G>C | CA354223527 | ADCY5 | c.1910C>G (p.Ala637Gly) c.2198C>G (p.Ala733Gly) n.1636C>G c.3308C>G (p.Ala1103Gly) c.3233C>G (p.Ala1078Gly) c.2183C>G (p.Ala728Gly) c.2207C>G (p.Ala736Gly) c.2258C>G (p.Ala753Gly) c.1985C>G (p.Ala662Gly) c.2309C>G (p.Ala770Gly) c.2219C>G (p.Ala740Gly) c.2210C>G (p.Ala737Gly) | |
3 | g.123291207G>T | CA354223528 | ADCY5 | c.1910C>A (p.Ala637Asp) c.2198C>A (p.Ala733Asp) n.1636C>A c.3308C>A (p.Ala1103Asp) c.3233C>A (p.Ala1078Asp) c.2183C>A (p.Ala728Asp) c.2207C>A (p.Ala736Asp) c.2258C>A (p.Ala753Asp) c.1985C>A (p.Ala662Asp) c.2309C>A (p.Ala770Asp) c.2219C>A (p.Ala740Asp) c.2210C>A (p.Ala737Asp) | |
3 | g.123291208C>A | CA2576824 | ADCY5 | c.1909G>T (p.Ala637Ser) c.2197G>T (p.Ala733Ser) n.1635G>T c.3307G>T (p.Ala1103Ser) c.3232G>T (p.Ala1078Ser) c.2182G>T (p.Ala728Ser) c.2206G>T (p.Ala736Ser) c.2257G>T (p.Ala753Ser) c.1984G>T (p.Ala662Ser) c.2308G>T (p.Ala770Ser) c.2218G>T (p.Ala740Ser) c.2209G>T (p.Ala737Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.123291208C= | CA1398330394 | ADCY5 | c.1909G= (p.Ala637=) c.2197G= (p.Ala733=) n.1635G= c.3307G= (p.Ala1103=) c.3232G= (p.Ala1078=) c.2182G= (p.Ala728=) c.2206G= (p.Ala736=) c.2257G= (p.Ala753=) c.1984G= (p.Ala662=) c.2308G= (p.Ala770=) c.2218G= (p.Ala740=) c.2209G= (p.Ala737=) | |
3 | g.123291208C>G | CA354223529 | ADCY5 | c.1909G>C (p.Ala637Pro) c.2197G>C (p.Ala733Pro) n.1635G>C c.3307G>C (p.Ala1103Pro) c.3232G>C (p.Ala1078Pro) c.2182G>C (p.Ala728Pro) c.2206G>C (p.Ala736Pro) c.2257G>C (p.Ala753Pro) c.1984G>C (p.Ala662Pro) c.2308G>C (p.Ala770Pro) c.2218G>C (p.Ala740Pro) c.2209G>C (p.Ala737Pro) | |
3 | g.123291208C>T | CA2576823 | ADCY5 | c.1909G>A (p.Ala637Thr) c.2197G>A (p.Ala733Thr) n.1635G>A c.3307G>A (p.Ala1103Thr) c.3232G>A (p.Ala1078Thr) c.2182G>A (p.Ala728Thr) c.2206G>A (p.Ala736Thr) c.2257G>A (p.Ala753Thr) c.1984G>A (p.Ala662Thr) c.2308G>A (p.Ala770Thr) c.2218G>A (p.Ala740Thr) c.2209G>A (p.Ala737Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.123291209G>A | CA2576825 | ADCY5 | c.1908C>T (p.Ile636=) c.2196C>T (p.Ile732=) n.1634C>T c.3306C>T (p.Ile1102=) c.3231C>T (p.Ile1077=) c.2181C>T (p.Ile727=) c.2205C>T (p.Ile735=) c.2256C>T (p.Ile752=) c.1983C>T (p.Ile661=) c.2307C>T (p.Ile769=) c.2217C>T (p.Ile739=) c.2208C>T (p.Ile736=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
3 | g.123291209G>C | CA354223530 | ADCY5 | c.1908C>G (p.Ile636Met) c.2196C>G (p.Ile732Met) n.1634C>G c.3306C>G (p.Ile1102Met) c.3231C>G (p.Ile1077Met) c.2181C>G (p.Ile727Met) c.2205C>G (p.Ile735Met) c.2256C>G (p.Ile752Met) c.1983C>G (p.Ile661Met) c.2307C>G (p.Ile769Met) c.2217C>G (p.Ile739Met) c.2208C>G (p.Ile736Met) | |
3 | g.123291209G= | CA1398330395 | ADCY5 | c.1908C= (p.Ile636=) c.2196C= (p.Ile732=) n.1634C= c.3306C= (p.Ile1102=) c.3231C= (p.Ile1077=) c.2181C= (p.Ile727=) c.2205C= (p.Ile735=) c.2256C= (p.Ile752=) c.1983C= (p.Ile661=) c.2307C= (p.Ile769=) c.2217C= (p.Ile739=) c.2208C= (p.Ile736=) | |
3 | g.123291209G>T | CA435431381 | ADCY5 | c.1908C>A (p.Ile636=) c.2196C>A (p.Ile732=) n.1634C>A c.3306C>A (p.Ile1102=) c.3231C>A (p.Ile1077=) c.2181C>A (p.Ile727=) c.2205C>A (p.Ile735=) c.2256C>A (p.Ile752=) c.1983C>A (p.Ile661=) c.2307C>A (p.Ile769=) c.2217C>A (p.Ile739=) c.2208C>A (p.Ile736=) | |
3 | g.123291210A>C | CA354223531 | ADCY5 | c.1907T>G (p.Ile636Ser) c.2195T>G (p.Ile732Ser) n.1633T>G c.3305T>G (p.Ile1102Ser) c.3230T>G (p.Ile1077Ser) c.2180T>G (p.Ile727Ser) c.2204T>G (p.Ile735Ser) c.2255T>G (p.Ile752Ser) c.1982T>G (p.Ile661Ser) c.2306T>G (p.Ile769Ser) c.2216T>G (p.Ile739Ser) c.2207T>G (p.Ile736Ser) | |
3 | g.123291210A>G | CA354223533 | ADCY5 | c.1907T>C (p.Ile636Thr) c.2195T>C (p.Ile732Thr) n.1633T>C c.3305T>C (p.Ile1102Thr) c.3230T>C (p.Ile1077Thr) c.2180T>C (p.Ile727Thr) c.2204T>C (p.Ile735Thr) c.2255T>C (p.Ile752Thr) c.1982T>C (p.Ile661Thr) c.2306T>C (p.Ile769Thr) c.2216T>C (p.Ile739Thr) c.2207T>C (p.Ile736Thr) | gnomAD v4 |
3 | g.123291210A>T | CA354223532 | ADCY5 | c.1907T>A (p.Ile636Asn) c.2195T>A (p.Ile732Asn) n.1633T>A c.3305T>A (p.Ile1102Asn) c.3230T>A (p.Ile1077Asn) c.2180T>A (p.Ile727Asn) c.2204T>A (p.Ile735Asn) c.2255T>A (p.Ile752Asn) c.1982T>A (p.Ile661Asn) c.2306T>A (p.Ile769Asn) c.2216T>A (p.Ile739Asn) c.2207T>A (p.Ile736Asn) | |
3 | g.123291211T>A | CA354223534 | ADCY5 | c.1906A>T (p.Ile636Phe) c.2194A>T (p.Ile732Phe) n.1632A>T c.3304A>T (p.Ile1102Phe) c.3229A>T (p.Ile1077Phe) c.2179A>T (p.Ile727Phe) c.2203A>T (p.Ile735Phe) c.2254A>T (p.Ile752Phe) c.1981A>T (p.Ile661Phe) c.2305A>T (p.Ile769Phe) c.2215A>T (p.Ile739Phe) c.2206A>T (p.Ile736Phe) | |
3 | g.123291211T>C | CA354223535 | ADCY5 | c.1906A>G (p.Ile636Val) c.2194A>G (p.Ile732Val) n.1632A>G c.3304A>G (p.Ile1102Val) c.3229A>G (p.Ile1077Val) c.2179A>G (p.Ile727Val) c.2203A>G (p.Ile735Val) c.2254A>G (p.Ile752Val) c.1981A>G (p.Ile661Val) c.2305A>G (p.Ile769Val) c.2215A>G (p.Ile739Val) c.2206A>G (p.Ile736Val) | gnomAD v4 |
3 | g.123291211T>G | CA354223536 | ADCY5 | c.1906A>C (p.Ile636Leu) c.2194A>C (p.Ile732Leu) n.1632A>C c.3304A>C (p.Ile1102Leu) c.3229A>C (p.Ile1077Leu) c.2179A>C (p.Ile727Leu) c.2203A>C (p.Ile735Leu) c.2254A>C (p.Ile752Leu) c.1981A>C (p.Ile661Leu) c.2305A>C (p.Ile769Leu) c.2215A>C (p.Ile739Leu) c.2206A>C (p.Ile736Leu) | |
3 | g.123291212G>A | CA2576826 | ADCY5 | c.1905C>T (p.Ser635=) c.2193C>T (p.Ser731=) n.1631C>T c.3303C>T (p.Ser1101=) c.3228C>T (p.Ser1076=) c.2178C>T (p.Ser726=) c.2202C>T (p.Ser734=) c.2253C>T (p.Ser751=) c.1980C>T (p.Ser660=) c.2304C>T (p.Ser768=) c.2214C>T (p.Ser738=) c.2205C>T (p.Ser735=) | dbSNP ExAC gnomAD v4 |
3 | g.123291212G>C | CA435431384 | ADCY5 | c.1905C>G (p.Ser635=) c.2193C>G (p.Ser731=) n.1631C>G c.3303C>G (p.Ser1101=) c.3228C>G (p.Ser1076=) c.2178C>G (p.Ser726=) c.2202C>G (p.Ser734=) c.2253C>G (p.Ser751=) c.1980C>G (p.Ser660=) c.2304C>G (p.Ser768=) c.2214C>G (p.Ser738=) c.2205C>G (p.Ser735=) | |
3 | g.123291212G= | CA1398330396 | ADCY5 | c.1905C= (p.Ser635=) c.2193C= (p.Ser731=) n.1631C= c.3303C= (p.Ser1101=) c.3228C= (p.Ser1076=) c.2178C= (p.Ser726=) c.2202C= (p.Ser734=) c.2253C= (p.Ser751=) c.1980C= (p.Ser660=) c.2304C= (p.Ser768=) c.2214C= (p.Ser738=) c.2205C= (p.Ser735=) | |
3 | g.123291212G>T | CA435431383 | ADCY5 | c.1905C>A (p.Ser635=) c.2193C>A (p.Ser731=) n.1631C>A c.3303C>A (p.Ser1101=) c.3228C>A (p.Ser1076=) c.2178C>A (p.Ser726=) c.2202C>A (p.Ser734=) c.2253C>A (p.Ser751=) c.1980C>A (p.Ser660=) c.2304C>A (p.Ser768=) c.2214C>A (p.Ser738=) c.2205C>A (p.Ser735=) | |
3 | g.123291213G>A | CA354223537 | ADCY5 | c.1904C>T (p.Ser635Phe) c.2192C>T (p.Ser731Phe) n.1630C>T c.3302C>T (p.Ser1101Phe) c.3227C>T (p.Ser1076Phe) c.2177C>T (p.Ser726Phe) c.2201C>T (p.Ser734Phe) c.2252C>T (p.Ser751Phe) c.1979C>T (p.Ser660Phe) c.2303C>T (p.Ser768Phe) c.2213C>T (p.Ser738Phe) c.2204C>T (p.Ser735Phe) | |
3 | g.123291213G>C | CA354223538 | ADCY5 | c.1904C>G (p.Ser635Cys) c.2192C>G (p.Ser731Cys) n.1630C>G c.3302C>G (p.Ser1101Cys) c.3227C>G (p.Ser1076Cys) c.2177C>G (p.Ser726Cys) c.2201C>G (p.Ser734Cys) c.2252C>G (p.Ser751Cys) c.1979C>G (p.Ser660Cys) c.2303C>G (p.Ser768Cys) c.2213C>G (p.Ser738Cys) c.2204C>G (p.Ser735Cys) | |
3 | g.123291213G>T | CA354223539 | ADCY5 | c.1904C>A (p.Ser635Tyr) c.2192C>A (p.Ser731Tyr) n.1630C>A c.3302C>A (p.Ser1101Tyr) c.3227C>A (p.Ser1076Tyr) c.2177C>A (p.Ser726Tyr) c.2201C>A (p.Ser734Tyr) c.2252C>A (p.Ser751Tyr) c.1979C>A (p.Ser660Tyr) c.2303C>A (p.Ser768Tyr) c.2213C>A (p.Ser738Tyr) c.2204C>A (p.Ser735Tyr) | |
3 | g.123291214A>C | CA354223540 | ADCY5 | c.1903T>G (p.Ser635Ala) c.2191T>G (p.Ser731Ala) n.1629T>G c.3301T>G (p.Ser1101Ala) c.3226T>G (p.Ser1076Ala) c.2176T>G (p.Ser726Ala) c.2200T>G (p.Ser734Ala) c.2251T>G (p.Ser751Ala) c.1978T>G (p.Ser660Ala) c.2302T>G (p.Ser768Ala) c.2212T>G (p.Ser738Ala) c.2203T>G (p.Ser735Ala) | |
3 | g.123291214A>G | CA354223541 | ADCY5 | c.1903T>C (p.Ser635Pro) c.2191T>C (p.Ser731Pro) n.1629T>C c.3301T>C (p.Ser1101Pro) c.3226T>C (p.Ser1076Pro) c.2176T>C (p.Ser726Pro) c.2200T>C (p.Ser734Pro) c.2251T>C (p.Ser751Pro) c.1978T>C (p.Ser660Pro) c.2302T>C (p.Ser768Pro) c.2212T>C (p.Ser738Pro) c.2203T>C (p.Ser735Pro) | |
3 | g.123291214A>T | CA354223542 | ADCY5 | c.1903T>A (p.Ser635Thr) c.2191T>A (p.Ser731Thr) n.1629T>A c.3301T>A (p.Ser1101Thr) c.3226T>A (p.Ser1076Thr) c.2176T>A (p.Ser726Thr) c.2200T>A (p.Ser734Thr) c.2251T>A (p.Ser751Thr) c.1978T>A (p.Ser660Thr) c.2302T>A (p.Ser768Thr) c.2212T>A (p.Ser738Thr) c.2203T>A (p.Ser735Thr) | gnomAD v4 |
3 | g.123291215G>A | CA435431385 | ADCY5 | c.1902C>T (p.Ala634=) c.2190C>T (p.Ala730=) n.1628C>T c.3300C>T (p.Ala1100=) c.3225C>T (p.Ala1075=) c.2175C>T (p.Ala725=) c.2199C>T (p.Ala733=) c.2250C>T (p.Ala750=) c.1977C>T (p.Ala659=) c.2301C>T (p.Ala767=) c.2211C>T (p.Ala737=) c.2202C>T (p.Ala734=) | gnomAD v4 |
3 | g.123291215G>C | CA435431386 | ADCY5 | c.1902C>G (p.Ala634=) c.2190C>G (p.Ala730=) n.1628C>G c.3300C>G (p.Ala1100=) c.3225C>G (p.Ala1075=) c.2175C>G (p.Ala725=) c.2199C>G (p.Ala733=) c.2250C>G (p.Ala750=) c.1977C>G (p.Ala659=) c.2301C>G (p.Ala767=) c.2211C>G (p.Ala737=) c.2202C>G (p.Ala734=) | |
3 | g.123291215G>T | CA435431387 | ADCY5 | c.1902C>A (p.Ala634=) c.2190C>A (p.Ala730=) n.1628C>A c.3300C>A (p.Ala1100=) c.3225C>A (p.Ala1075=) c.2175C>A (p.Ala725=) c.2199C>A (p.Ala733=) c.2250C>A (p.Ala750=) c.1977C>A (p.Ala659=) c.2301C>A (p.Ala767=) c.2211C>A (p.Ala737=) c.2202C>A (p.Ala734=) | gnomAD v4 |
3 | g.123291216G>A | CA354223543 | ADCY5 | c.1901C>T (p.Ala634Val) c.2189C>T (p.Ala730Val) n.1627C>T c.3299C>T (p.Ala1100Val) c.3224C>T (p.Ala1075Val) c.2174C>T (p.Ala725Val) c.2198C>T (p.Ala733Val) c.2249C>T (p.Ala750Val) c.1976C>T (p.Ala659Val) c.2300C>T (p.Ala767Val) c.2210C>T (p.Ala737Val) c.2201C>T (p.Ala734Val) | ClinVar dbSNP |
3 | g.123291216G>C | CA354223544 | ADCY5 | c.1901C>G (p.Ala634Gly) c.2189C>G (p.Ala730Gly) n.1627C>G c.3299C>G (p.Ala1100Gly) c.3224C>G (p.Ala1075Gly) c.2174C>G (p.Ala725Gly) c.2198C>G (p.Ala733Gly) c.2249C>G (p.Ala750Gly) c.1976C>G (p.Ala659Gly) c.2300C>G (p.Ala767Gly) c.2210C>G (p.Ala737Gly) c.2201C>G (p.Ala734Gly) | |
3 | g.123291216G>T | CA354223545 | ADCY5 | c.1901C>A (p.Ala634Asp) c.2189C>A (p.Ala730Asp) n.1627C>A c.3299C>A (p.Ala1100Asp) c.3224C>A (p.Ala1075Asp) c.2174C>A (p.Ala725Asp) c.2198C>A (p.Ala733Asp) c.2249C>A (p.Ala750Asp) c.1976C>A (p.Ala659Asp) c.2300C>A (p.Ala767Asp) c.2210C>A (p.Ala737Asp) c.2201C>A (p.Ala734Asp) | |
3 | g.123291217C>A | CA2576827 | ADCY5 | c.1900G>T (p.Ala634Ser) c.2188G>T (p.Ala730Ser) n.1626G>T c.3298G>T (p.Ala1100Ser) c.3223G>T (p.Ala1075Ser) c.2173G>T (p.Ala725Ser) c.2197G>T (p.Ala733Ser) c.2248G>T (p.Ala750Ser) c.1975G>T (p.Ala659Ser) c.2299G>T (p.Ala767Ser) c.2209G>T (p.Ala737Ser) c.2200G>T (p.Ala734Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
3 | g.123291217C= | CA1398330397 | ADCY5 | c.1900G= (p.Ala634=) c.2188G= (p.Ala730=) n.1626G= c.3298G= (p.Ala1100=) c.3223G= (p.Ala1075=) c.2173G= (p.Ala725=) c.2197G= (p.Ala733=) c.2248G= (p.Ala750=) c.1975G= (p.Ala659=) c.2299G= (p.Ala767=) c.2209G= (p.Ala737=) c.2200G= (p.Ala734=) | |
3 | g.123291217C>G | CA354223546 | ADCY5 | c.1900G>C (p.Ala634Pro) c.2188G>C (p.Ala730Pro) n.1626G>C c.3298G>C (p.Ala1100Pro) c.3223G>C (p.Ala1075Pro) c.2173G>C (p.Ala725Pro) c.2197G>C (p.Ala733Pro) c.2248G>C (p.Ala750Pro) c.1975G>C (p.Ala659Pro) c.2299G>C (p.Ala767Pro) c.2209G>C (p.Ala737Pro) c.2200G>C (p.Ala734Pro) | |
3 | g.123291217C>T | CA354223547 | ADCY5 | c.1900G>A (p.Ala634Thr) c.2188G>A (p.Ala730Thr) n.1626G>A c.3298G>A (p.Ala1100Thr) c.3223G>A (p.Ala1075Thr) c.2173G>A (p.Ala725Thr) c.2197G>A (p.Ala733Thr) c.2248G>A (p.Ala750Thr) c.1975G>A (p.Ala659Thr) c.2299G>A (p.Ala767Thr) c.2209G>A (p.Ala737Thr) c.2200G>A (p.Ala734Thr) | dbSNP gnomAD v4 |
3 | g.123291218G>A | CA82904049 | ADCY5 | c.1899C>T (p.Phe633=) c.2187C>T (p.Phe729=) n.1625C>T c.3297C>T (p.Phe1099=) c.3222C>T (p.Phe1074=) c.2172C>T (p.Phe724=) c.2196C>T (p.Phe732=) c.2247C>T (p.Phe749=) c.1974C>T (p.Phe658=) c.2298C>T (p.Phe766=) c.2208C>T (p.Phe736=) c.2199C>T (p.Phe733=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.123291218G>C | CA354223548 | ADCY5 | c.1899C>G (p.Phe633Leu) c.2187C>G (p.Phe729Leu) n.1625C>G c.3297C>G (p.Phe1099Leu) c.3222C>G (p.Phe1074Leu) c.2172C>G (p.Phe724Leu) c.2196C>G (p.Phe732Leu) c.2247C>G (p.Phe749Leu) c.1974C>G (p.Phe658Leu) c.2298C>G (p.Phe766Leu) c.2208C>G (p.Phe736Leu) c.2199C>G (p.Phe733Leu) | COSMIC |
3 | g.123291218G= | CA1398330398 | ADCY5 | c.1899C= (p.Phe633=) c.2187C= (p.Phe729=) n.1625C= c.3297C= (p.Phe1099=) c.3222C= (p.Phe1074=) c.2172C= (p.Phe724=) c.2196C= (p.Phe732=) c.2247C= (p.Phe749=) c.1974C= (p.Phe658=) c.2298C= (p.Phe766=) c.2208C= (p.Phe736=) c.2199C= (p.Phe733=) | |
3 | g.123291218G>T | CA354223549 | ADCY5 | c.1899C>A (p.Phe633Leu) c.2187C>A (p.Phe729Leu) n.1625C>A c.3297C>A (p.Phe1099Leu) c.3222C>A (p.Phe1074Leu) c.2172C>A (p.Phe724Leu) c.2196C>A (p.Phe732Leu) c.2247C>A (p.Phe749Leu) c.1974C>A (p.Phe658Leu) c.2298C>A (p.Phe766Leu) c.2208C>A (p.Phe736Leu) c.2199C>A (p.Phe733Leu) | gnomAD v4 |
3 | g.123291219A>C | CA354223550 | ADCY5 | c.1898T>G (p.Phe633Cys) c.2186T>G (p.Phe729Cys) n.1624T>G c.3296T>G (p.Phe1099Cys) c.3221T>G (p.Phe1074Cys) c.2171T>G (p.Phe724Cys) c.2195T>G (p.Phe732Cys) c.2246T>G (p.Phe749Cys) c.1973T>G (p.Phe658Cys) c.2297T>G (p.Phe766Cys) c.2207T>G (p.Phe736Cys) c.2198T>G (p.Phe733Cys) | |
3 | g.123291219A>G | CA354223551 | ADCY5 | c.1898T>C (p.Phe633Ser) c.2186T>C (p.Phe729Ser) n.1624T>C c.3296T>C (p.Phe1099Ser) c.3221T>C (p.Phe1074Ser) c.2171T>C (p.Phe724Ser) c.2195T>C (p.Phe732Ser) c.2246T>C (p.Phe749Ser) c.1973T>C (p.Phe658Ser) c.2297T>C (p.Phe766Ser) c.2207T>C (p.Phe736Ser) c.2198T>C (p.Phe733Ser) | |
3 | g.123291219A>T | CA354223552 | ADCY5 | c.1898T>A (p.Phe633Tyr) c.2186T>A (p.Phe729Tyr) n.1624T>A c.3296T>A (p.Phe1099Tyr) c.3221T>A (p.Phe1074Tyr) c.2171T>A (p.Phe724Tyr) c.2195T>A (p.Phe732Tyr) c.2246T>A (p.Phe749Tyr) c.1973T>A (p.Phe658Tyr) c.2297T>A (p.Phe766Tyr) c.2207T>A (p.Phe736Tyr) c.2198T>A (p.Phe733Tyr) | |
3 | g.123291220A>C | CA354223553 | ADCY5 | c.1897T>G (p.Phe633Val) c.2185T>G (p.Phe729Val) n.1623T>G c.3295T>G (p.Phe1099Val) c.3220T>G (p.Phe1074Val) c.2170T>G (p.Phe724Val) c.2194T>G (p.Phe732Val) c.2245T>G (p.Phe749Val) c.1972T>G (p.Phe658Val) c.2296T>G (p.Phe766Val) c.2206T>G (p.Phe736Val) c.2197T>G (p.Phe733Val) | |
3 | g.123291220A>G | CA354223554 | ADCY5 | c.1897T>C (p.Phe633Leu) c.2185T>C (p.Phe729Leu) n.1623T>C c.3295T>C (p.Phe1099Leu) c.3220T>C (p.Phe1074Leu) c.2170T>C (p.Phe724Leu) c.2194T>C (p.Phe732Leu) c.2245T>C (p.Phe749Leu) c.1972T>C (p.Phe658Leu) c.2296T>C (p.Phe766Leu) c.2206T>C (p.Phe736Leu) c.2197T>C (p.Phe733Leu) | |
3 | g.123291220A>T | CA354223555 | ADCY5 | c.1897T>A (p.Phe633Ile) c.2185T>A (p.Phe729Ile) n.1623T>A c.3295T>A (p.Phe1099Ile) c.3220T>A (p.Phe1074Ile) c.2170T>A (p.Phe724Ile) c.2194T>A (p.Phe732Ile) c.2245T>A (p.Phe749Ile) c.1972T>A (p.Phe658Ile) c.2296T>A (p.Phe766Ile) c.2206T>A (p.Phe736Ile) c.2197T>A (p.Phe733Ile) | |
3 | g.123291221C>A | CA354223556 | ADCY5 | c.1896G>T (p.Met632Ile) c.2184G>T (p.Met728Ile) n.1622G>T c.3294G>T (p.Met1098Ile) c.3219G>T (p.Met1073Ile) c.2169G>T (p.Met723Ile) c.2193G>T (p.Met731Ile) c.2244G>T (p.Met748Ile) c.1971G>T (p.Met657Ile) c.2295G>T (p.Met765Ile) c.2205G>T (p.Met735Ile) c.2196G>T (p.Met732Ile) | |
3 | g.123291221C>G | CA354223557 | ADCY5 | c.1896G>C (p.Met632Ile) c.2184G>C (p.Met728Ile) n.1622G>C c.3294G>C (p.Met1098Ile) c.3219G>C (p.Met1073Ile) c.2169G>C (p.Met723Ile) c.2193G>C (p.Met731Ile) c.2244G>C (p.Met748Ile) c.1971G>C (p.Met657Ile) c.2295G>C (p.Met765Ile) c.2205G>C (p.Met735Ile) c.2196G>C (p.Met732Ile) | |
3 | g.123291221C>T | CA354223558 | ADCY5 | c.1896G>A (p.Met632Ile) c.2184G>A (p.Met728Ile) n.1622G>A c.3294G>A (p.Met1098Ile) c.3219G>A (p.Met1073Ile) c.2169G>A (p.Met723Ile) c.2193G>A (p.Met731Ile) c.2244G>A (p.Met748Ile) c.1971G>A (p.Met657Ile) c.2295G>A (p.Met765Ile) c.2205G>A (p.Met735Ile) c.2196G>A (p.Met732Ile) | gnomAD v4 COSMIC |
3 | g.123291222A= | CA1398330399 | ADCY5 | c.1895T= (p.Met632=) c.2183T= (p.Met728=) n.1621T= c.3293T= (p.Met1098=) c.3218T= (p.Met1073=) c.2168T= (p.Met723=) c.2192T= (p.Met731=) c.2243T= (p.Met748=) c.1970T= (p.Met657=) c.2294T= (p.Met765=) c.2204T= (p.Met735=) c.2195T= (p.Met732=) | |
3 | g.123291222A>C | CA354223560 | ADCY5 | c.1895T>G (p.Met632Arg) c.2183T>G (p.Met728Arg) n.1621T>G c.3293T>G (p.Met1098Arg) c.3218T>G (p.Met1073Arg) c.2168T>G (p.Met723Arg) c.2192T>G (p.Met731Arg) c.2243T>G (p.Met748Arg) c.1970T>G (p.Met657Arg) c.2294T>G (p.Met765Arg) c.2204T>G (p.Met735Arg) c.2195T>G (p.Met732Arg) | |
3 | g.123291222A>G | CA354223559 | ADCY5 | c.1895T>C (p.Met632Thr) c.2183T>C (p.Met728Thr) n.1621T>C c.3293T>C (p.Met1098Thr) c.3218T>C (p.Met1073Thr) c.2168T>C (p.Met723Thr) c.2192T>C (p.Met731Thr) c.2243T>C (p.Met748Thr) c.1970T>C (p.Met657Thr) c.2294T>C (p.Met765Thr) c.2204T>C (p.Met735Thr) c.2195T>C (p.Met732Thr) | gnomAD v4 |
3 | g.123291222A>T | CA2576828 | ADCY5 | c.1895T>A (p.Met632Lys) c.2183T>A (p.Met728Lys) n.1621T>A c.3293T>A (p.Met1098Lys) c.3218T>A (p.Met1073Lys) c.2168T>A (p.Met723Lys) c.2192T>A (p.Met731Lys) c.2243T>A (p.Met748Lys) c.1970T>A (p.Met657Lys) c.2294T>A (p.Met765Lys) c.2204T>A (p.Met735Lys) c.2195T>A (p.Met732Lys) | dbSNP ExAC gnomAD v2 |
3 | g.123291223T>A | CA354223561 | ADCY5 | c.1894A>T (p.Met632Leu) c.2182A>T (p.Met728Leu) n.1620A>T c.3292A>T (p.Met1098Leu) c.3217A>T (p.Met1073Leu) c.2167A>T (p.Met723Leu) c.2191A>T (p.Met731Leu) c.2242A>T (p.Met748Leu) c.1969A>T (p.Met657Leu) c.2293A>T (p.Met765Leu) c.2203A>T (p.Met735Leu) c.2194A>T (p.Met732Leu) | |
3 | g.123291223T>C | CA354223562 | ADCY5 | c.1894A>G (p.Met632Val) c.2182A>G (p.Met728Val) n.1620A>G c.3292A>G (p.Met1098Val) c.3217A>G (p.Met1073Val) c.2167A>G (p.Met723Val) c.2191A>G (p.Met731Val) c.2242A>G (p.Met748Val) c.1969A>G (p.Met657Val) c.2293A>G (p.Met765Val) c.2203A>G (p.Met735Val) c.2194A>G (p.Met732Val) | |
3 | g.123291223T>G | CA354223563 | ADCY5 | c.1894A>C (p.Met632Leu) c.2182A>C (p.Met728Leu) n.1620A>C c.3292A>C (p.Met1098Leu) c.3217A>C (p.Met1073Leu) c.2167A>C (p.Met723Leu) c.2191A>C (p.Met731Leu) c.2242A>C (p.Met748Leu) c.1969A>C (p.Met657Leu) c.2293A>C (p.Met765Leu) c.2203A>C (p.Met735Leu) c.2194A>C (p.Met732Leu) | |
3 | g.123291224G>A | CA435431388 | ADCY5 | c.1893C>T (p.Val631=) c.2181C>T (p.Val727=) n.1619C>T c.3291C>T (p.Val1097=) c.3216C>T (p.Val1072=) c.2166C>T (p.Val722=) c.2190C>T (p.Val730=) c.2241C>T (p.Val747=) c.1968C>T (p.Val656=) c.2292C>T (p.Val764=) c.2202C>T (p.Val734=) c.2193C>T (p.Val731=) | COSMIC |
3 | g.123291224G>C | CA435431390 | ADCY5 | c.1893C>G (p.Val631=) c.2181C>G (p.Val727=) n.1619C>G c.3291C>G (p.Val1097=) c.3216C>G (p.Val1072=) c.2166C>G (p.Val722=) c.2190C>G (p.Val730=) c.2241C>G (p.Val747=) c.1968C>G (p.Val656=) c.2292C>G (p.Val764=) c.2202C>G (p.Val734=) c.2193C>G (p.Val731=) | COSMIC |
3 | g.123291224G>T | CA435431389 | ADCY5 | c.1893C>A (p.Val631=) c.2181C>A (p.Val727=) n.1619C>A c.3291C>A (p.Val1097=) c.3216C>A (p.Val1072=) c.2166C>A (p.Val722=) c.2190C>A (p.Val730=) c.2241C>A (p.Val747=) c.1968C>A (p.Val656=) c.2292C>A (p.Val764=) c.2202C>A (p.Val734=) c.2193C>A (p.Val731=) | |
3 | g.123291225A= | CA1398330400 | ADCY5 | c.1892T= (p.Val631=) c.2180T= (p.Val727=) n.1618T= c.3290T= (p.Val1097=) c.3215T= (p.Val1072=) c.2165T= (p.Val722=) c.2189T= (p.Val730=) c.2240T= (p.Val747=) c.1967T= (p.Val656=) c.2291T= (p.Val764=) c.2201T= (p.Val734=) c.2192T= (p.Val731=) | |
3 | g.123291225A>C | CA354223564 | ADCY5 | c.1892T>G (p.Val631Gly) c.2180T>G (p.Val727Gly) n.1618T>G c.3290T>G (p.Val1097Gly) c.3215T>G (p.Val1072Gly) c.2165T>G (p.Val722Gly) c.2189T>G (p.Val730Gly) c.2240T>G (p.Val747Gly) c.1967T>G (p.Val656Gly) c.2291T>G (p.Val764Gly) c.2201T>G (p.Val734Gly) c.2192T>G (p.Val731Gly) | dbSNP |
3 | g.123291225A>G | CA354223565 | ADCY5 | c.1892T>C (p.Val631Ala) c.2180T>C (p.Val727Ala) n.1618T>C c.3290T>C (p.Val1097Ala) c.3215T>C (p.Val1072Ala) c.2165T>C (p.Val722Ala) c.2189T>C (p.Val730Ala) c.2240T>C (p.Val747Ala) c.1967T>C (p.Val656Ala) c.2291T>C (p.Val764Ala) c.2201T>C (p.Val734Ala) c.2192T>C (p.Val731Ala) | |
3 | g.123291225A>T | CA354223566 | ADCY5 | c.1892T>A (p.Val631Asp) c.2180T>A (p.Val727Asp) n.1618T>A c.3290T>A (p.Val1097Asp) c.3215T>A (p.Val1072Asp) c.2165T>A (p.Val722Asp) c.2189T>A (p.Val730Asp) c.2240T>A (p.Val747Asp) c.1967T>A (p.Val656Asp) c.2291T>A (p.Val764Asp) c.2201T>A (p.Val734Asp) c.2192T>A (p.Val731Asp) | |
3 | g.123291226C>A | CA354223567 | ADCY5 | c.1891G>T (p.Val631Phe) c.2179G>T (p.Val727Phe) n.1617G>T c.3289G>T (p.Val1097Phe) c.3214G>T (p.Val1072Phe) c.2164G>T (p.Val722Phe) c.2188G>T (p.Val730Phe) c.2239G>T (p.Val747Phe) c.1966G>T (p.Val656Phe) c.2290G>T (p.Val764Phe) c.2200G>T (p.Val734Phe) c.2191G>T (p.Val731Phe) | |
3 | g.123291226C>G | CA354223568 | ADCY5 | c.1891G>C (p.Val631Leu) c.2179G>C (p.Val727Leu) n.1617G>C c.3289G>C (p.Val1097Leu) c.3214G>C (p.Val1072Leu) c.2164G>C (p.Val722Leu) c.2188G>C (p.Val730Leu) c.2239G>C (p.Val747Leu) c.1966G>C (p.Val656Leu) c.2290G>C (p.Val764Leu) c.2200G>C (p.Val734Leu) c.2191G>C (p.Val731Leu) | |
3 | g.123291226C>T | CA354223569 | ADCY5 | c.1891G>A (p.Val631Ile) c.2179G>A (p.Val727Ile) n.1617G>A c.3289G>A (p.Val1097Ile) c.3214G>A (p.Val1072Ile) c.2164G>A (p.Val722Ile) c.2188G>A (p.Val730Ile) c.2239G>A (p.Val747Ile) c.1966G>A (p.Val656Ile) c.2290G>A (p.Val764Ile) c.2200G>A (p.Val734Ile) c.2191G>A (p.Val731Ile) | |
3 | g.123291227C>A | CA435431391 | ADCY5 | c.1890G>T (p.Ala630=) c.2178G>T (p.Ala726=) n.1616G>T c.3288G>T (p.Ala1096=) c.3213G>T (p.Ala1071=) c.2163G>T (p.Ala721=) c.2187G>T (p.Ala729=) c.2238G>T (p.Ala746=) c.1965G>T (p.Ala655=) c.2289G>T (p.Ala763=) c.2199G>T (p.Ala733=) c.2190G>T (p.Ala730=) | |
3 | g.123291227C= | CA1398330401 | ADCY5 | c.1890G= (p.Ala630=) c.2178G= (p.Ala726=) n.1616G= c.3288G= (p.Ala1096=) c.3213G= (p.Ala1071=) c.2163G= (p.Ala721=) c.2187G= (p.Ala729=) c.2238G= (p.Ala746=) c.1965G= (p.Ala655=) c.2289G= (p.Ala763=) c.2199G= (p.Ala733=) c.2190G= (p.Ala730=) | |
3 | g.123291227C>G | CA435431392 | ADCY5 | c.1890G>C (p.Ala630=) c.2178G>C (p.Ala726=) n.1616G>C c.3288G>C (p.Ala1096=) c.3213G>C (p.Ala1071=) c.2163G>C (p.Ala721=) c.2187G>C (p.Ala729=) c.2238G>C (p.Ala746=) c.1965G>C (p.Ala655=) c.2289G>C (p.Ala763=) c.2199G>C (p.Ala733=) c.2190G>C (p.Ala730=) | |
3 | g.123291227C>T | CA2576829 | ADCY5 | c.1890G>A (p.Ala630=) c.2178G>A (p.Ala726=) n.1616G>A c.3288G>A (p.Ala1096=) c.3213G>A (p.Ala1071=) c.2163G>A (p.Ala721=) c.2187G>A (p.Ala729=) c.2238G>A (p.Ala746=) c.1965G>A (p.Ala655=) c.2289G>A (p.Ala763=) c.2199G>A (p.Ala733=) c.2190G>A (p.Ala730=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.123291228G>A | CA354223570 | ADCY5 | c.1889C>T (p.Ala630Val) c.2177C>T (p.Ala726Val) n.1615C>T c.3287C>T (p.Ala1096Val) c.3212C>T (p.Ala1071Val) c.2162C>T (p.Ala721Val) c.2186C>T (p.Ala729Val) c.2237C>T (p.Ala746Val) c.1964C>T (p.Ala655Val) c.2288C>T (p.Ala763Val) c.2198C>T (p.Ala733Val) c.2189C>T (p.Ala730Val) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.123291228G>C | CA354223571 | ADCY5 | c.1889C>G (p.Ala630Gly) c.2177C>G (p.Ala726Gly) n.1615C>G c.3287C>G (p.Ala1096Gly) c.3212C>G (p.Ala1071Gly) c.2162C>G (p.Ala721Gly) c.2186C>G (p.Ala729Gly) c.2237C>G (p.Ala746Gly) c.1964C>G (p.Ala655Gly) c.2288C>G (p.Ala763Gly) c.2198C>G (p.Ala733Gly) c.2189C>G (p.Ala730Gly) | |
3 | g.123291228G= | CA1398330402 | ADCY5 | c.1889C= (p.Ala630=) c.2177C= (p.Ala726=) n.1615C= c.3287C= (p.Ala1096=) c.3212C= (p.Ala1071=) c.2162C= (p.Ala721=) c.2186C= (p.Ala729=) c.2237C= (p.Ala746=) c.1964C= (p.Ala655=) c.2288C= (p.Ala763=) c.2198C= (p.Ala733=) c.2189C= (p.Ala730=) | |
3 | g.123291228G>T | CA354223572 | ADCY5 | c.1889C>A (p.Ala630Glu) c.2177C>A (p.Ala726Glu) n.1615C>A c.3287C>A (p.Ala1096Glu) c.3212C>A (p.Ala1071Glu) c.2162C>A (p.Ala721Glu) c.2186C>A (p.Ala729Glu) c.2237C>A (p.Ala746Glu) c.1964C>A (p.Ala655Glu) c.2288C>A (p.Ala763Glu) c.2198C>A (p.Ala733Glu) c.2189C>A (p.Ala730Glu) | |
3 | g.123291229C>A | CA354223575 | ADCY5 | c.1888G>T (p.Ala630Ser) c.2176G>T (p.Ala726Ser) n.1614G>T c.3286G>T (p.Ala1096Ser) c.3211G>T (p.Ala1071Ser) c.2161G>T (p.Ala721Ser) c.2185G>T (p.Ala729Ser) c.2236G>T (p.Ala746Ser) c.1963G>T (p.Ala655Ser) c.2287G>T (p.Ala763Ser) c.2197G>T (p.Ala733Ser) c.2188G>T (p.Ala730Ser) | |
3 | g.123291229C>G | CA354223573 | ADCY5 | c.1888G>C (p.Ala630Pro) c.2176G>C (p.Ala726Pro) n.1614G>C c.3286G>C (p.Ala1096Pro) c.3211G>C (p.Ala1071Pro) c.2161G>C (p.Ala721Pro) c.2185G>C (p.Ala729Pro) c.2236G>C (p.Ala746Pro) c.1963G>C (p.Ala655Pro) c.2287G>C (p.Ala763Pro) c.2197G>C (p.Ala733Pro) c.2188G>C (p.Ala730Pro) | |
3 | g.123291229C>T | CA354223574 | ADCY5 | c.1888G>A (p.Ala630Thr) c.2176G>A (p.Ala726Thr) n.1614G>A c.3286G>A (p.Ala1096Thr) c.3211G>A (p.Ala1071Thr) c.2161G>A (p.Ala721Thr) c.2185G>A (p.Ala729Thr) c.2236G>A (p.Ala746Thr) c.1963G>A (p.Ala655Thr) c.2287G>A (p.Ala763Thr) c.2197G>A (p.Ala733Thr) c.2188G>A (p.Ala730Thr) | |
3 | g.123291230C>A | CA435431393 | ADCY5 | c.1887G>T (p.Val629=) c.2175G>T (p.Val725=) n.1613G>T c.3285G>T (p.Val1095=) c.3210G>T (p.Val1070=) c.2160G>T (p.Val720=) c.2184G>T (p.Val728=) c.2235G>T (p.Val745=) c.1962G>T (p.Val654=) c.2286G>T (p.Val762=) c.2196G>T (p.Val732=) c.2187G>T (p.Val729=) | |
3 | g.123291230C= | CA1398330403 | ADCY5 | c.1887G= (p.Val629=) c.2175G= (p.Val725=) n.1613G= c.3285G= (p.Val1095=) c.3210G= (p.Val1070=) c.2160G= (p.Val720=) c.2184G= (p.Val728=) c.2235G= (p.Val745=) c.1962G= (p.Val654=) c.2286G= (p.Val762=) c.2196G= (p.Val732=) c.2187G= (p.Val729=) | |
3 | g.123291230C>G | CA435431394 | ADCY5 | c.1887G>C (p.Val629=) c.2175G>C (p.Val725=) n.1613G>C c.3285G>C (p.Val1095=) c.3210G>C (p.Val1070=) c.2160G>C (p.Val720=) c.2184G>C (p.Val728=) c.2235G>C (p.Val745=) c.1962G>C (p.Val654=) c.2286G>C (p.Val762=) c.2196G>C (p.Val732=) c.2187G>C (p.Val729=) | |
3 | g.123291230C>T | CA2576830 | ADCY5 | c.1887G>A (p.Val629=) c.2175G>A (p.Val725=) n.1613G>A c.3285G>A (p.Val1095=) c.3210G>A (p.Val1070=) c.2160G>A (p.Val720=) c.2184G>A (p.Val728=) c.2235G>A (p.Val745=) c.1962G>A (p.Val654=) c.2286G>A (p.Val762=) c.2196G>A (p.Val732=) c.2187G>A (p.Val729=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.123291235_123291236del | CA2667290332 | ADCY5 | c.1886_1887del (p.Val629GlyfsTer16) c.2174_2175del (p.Val725GlyfsTer16) n.1612_1613del c.3284_3285del (p.Val1095GlyfsTer16) c.3209_3210del (p.Val1070GlyfsTer16) c.2159_2160del (p.Val720GlyfsTer16) c.2183_2184del (p.Val728GlyfsTer16) c.2234_2235del (p.Val745GlyfsTer16) c.1961_1962del (p.Val654GlyfsTer16) c.2285_2286del (p.Val762GlyfsTer16) c.2195_2196del (p.Val732GlyfsTer16) c.2186_2187del (p.Val729GlyfsTer16) | gnomAD v4 |
3 | g.123291231A>C | CA354223576 | ADCY5 | c.1886T>G (p.Val629Gly) c.2174T>G (p.Val725Gly) n.1612T>G c.3284T>G (p.Val1095Gly) c.3209T>G (p.Val1070Gly) c.2159T>G (p.Val720Gly) c.2183T>G (p.Val728Gly) c.2234T>G (p.Val745Gly) c.1961T>G (p.Val654Gly) c.2285T>G (p.Val762Gly) c.2195T>G (p.Val732Gly) c.2186T>G (p.Val729Gly) | |
3 | g.123291231A>G | CA354223577 | ADCY5 | c.1886T>C (p.Val629Ala) c.2174T>C (p.Val725Ala) n.1612T>C c.3284T>C (p.Val1095Ala) c.3209T>C (p.Val1070Ala) c.2159T>C (p.Val720Ala) c.2183T>C (p.Val728Ala) c.2234T>C (p.Val745Ala) c.1961T>C (p.Val654Ala) c.2285T>C (p.Val762Ala) c.2195T>C (p.Val732Ala) c.2186T>C (p.Val729Ala) | |
3 | g.123291231A>T | CA354223578 | ADCY5 | c.1886T>A (p.Val629Glu) c.2174T>A (p.Val725Glu) n.1612T>A c.3284T>A (p.Val1095Glu) c.3209T>A (p.Val1070Glu) c.2159T>A (p.Val720Glu) c.2183T>A (p.Val728Glu) c.2234T>A (p.Val745Glu) c.1961T>A (p.Val654Glu) c.2285T>A (p.Val762Glu) c.2195T>A (p.Val732Glu) c.2186T>A (p.Val729Glu) | |
3 | g.123291232C>A | CA354223579 | ADCY5 | c.1885G>T (p.Val629Leu) c.2173G>T (p.Val725Leu) n.1611G>T c.3283G>T (p.Val1095Leu) c.3208G>T (p.Val1070Leu) c.2158G>T (p.Val720Leu) c.2182G>T (p.Val728Leu) c.2233G>T (p.Val745Leu) c.1960G>T (p.Val654Leu) c.2284G>T (p.Val762Leu) c.2194G>T (p.Val732Leu) c.2185G>T (p.Val729Leu) | |
3 | g.123291232C>G | CA354223580 | ADCY5 | c.1885G>C (p.Val629Leu) c.2173G>C (p.Val725Leu) n.1611G>C c.3283G>C (p.Val1095Leu) c.3208G>C (p.Val1070Leu) c.2158G>C (p.Val720Leu) c.2182G>C (p.Val728Leu) c.2233G>C (p.Val745Leu) c.1960G>C (p.Val654Leu) c.2284G>C (p.Val762Leu) c.2194G>C (p.Val732Leu) c.2185G>C (p.Val729Leu) | |
3 | g.123291232C>T | CA354223581 | ADCY5 | c.1885G>A (p.Val629Met) c.2173G>A (p.Val725Met) n.1611G>A c.3283G>A (p.Val1095Met) c.3208G>A (p.Val1070Met) c.2158G>A (p.Val720Met) c.2182G>A (p.Val728Met) c.2233G>A (p.Val745Met) c.1960G>A (p.Val654Met) c.2284G>A (p.Val762Met) c.2194G>A (p.Val732Met) c.2185G>A (p.Val729Met) | |
3 | g.123291233A= | CA1398330404 | ADCY5 | c.1884T= (p.Cys628=) c.2172T= (p.Cys724=) n.1610T= c.3282T= (p.Cys1094=) c.3207T= (p.Cys1069=) c.2157T= (p.Cys719=) c.2181T= (p.Cys727=) c.2232T= (p.Cys744=) c.1959T= (p.Cys653=) c.2283T= (p.Cys761=) c.2193T= (p.Cys731=) c.2184T= (p.Cys728=) | |
3 | g.123291233A>C | CA354223582 | ADCY5 | c.1884T>G (p.Cys628Trp) c.2172T>G (p.Cys724Trp) n.1610T>G c.3282T>G (p.Cys1094Trp) c.3207T>G (p.Cys1069Trp) c.2157T>G (p.Cys719Trp) c.2181T>G (p.Cys727Trp) c.2232T>G (p.Cys744Trp) c.1959T>G (p.Cys653Trp) c.2283T>G (p.Cys761Trp) c.2193T>G (p.Cys731Trp) c.2184T>G (p.Cys728Trp) | |
3 | g.123291233A>G | CA435431395 | ADCY5 | c.1884T>C (p.Cys628=) c.2172T>C (p.Cys724=) n.1610T>C c.3282T>C (p.Cys1094=) c.3207T>C (p.Cys1069=) c.2157T>C (p.Cys719=) c.2181T>C (p.Cys727=) c.2232T>C (p.Cys744=) c.1959T>C (p.Cys653=) c.2283T>C (p.Cys761=) c.2193T>C (p.Cys731=) c.2184T>C (p.Cys728=) | |
3 | g.123291233A>T | CA354223583 | ADCY5 | c.1884T>A (p.Cys628Ter) c.2172T>A (p.Cys724Ter) n.1610T>A c.3282T>A (p.Cys1094Ter) c.3207T>A (p.Cys1069Ter) c.2157T>A (p.Cys719Ter) c.2181T>A (p.Cys727Ter) c.2232T>A (p.Cys744Ter) c.1959T>A (p.Cys653Ter) c.2283T>A (p.Cys761Ter) c.2193T>A (p.Cys731Ter) c.2184T>A (p.Cys728Ter) | dbSNP |
3 | g.123291234C>A | CA354223584 | ADCY5 | c.1883G>T (p.Cys628Phe) c.2171G>T (p.Cys724Phe) n.1609G>T c.3281G>T (p.Cys1094Phe) c.3206G>T (p.Cys1069Phe) c.2156G>T (p.Cys719Phe) c.2180G>T (p.Cys727Phe) c.2231G>T (p.Cys744Phe) c.1958G>T (p.Cys653Phe) c.2282G>T (p.Cys761Phe) c.2192G>T (p.Cys731Phe) c.2183G>T (p.Cys728Phe) | |
3 | g.123291234C>G | CA354223585 | ADCY5 | c.1883G>C (p.Cys628Ser) c.2171G>C (p.Cys724Ser) n.1609G>C c.3281G>C (p.Cys1094Ser) c.3206G>C (p.Cys1069Ser) c.2156G>C (p.Cys719Ser) c.2180G>C (p.Cys727Ser) c.2231G>C (p.Cys744Ser) c.1958G>C (p.Cys653Ser) c.2282G>C (p.Cys761Ser) c.2192G>C (p.Cys731Ser) c.2183G>C (p.Cys728Ser) | |
3 | g.123291234C>T | CA354223586 | ADCY5 | c.1883G>A (p.Cys628Tyr) c.2171G>A (p.Cys724Tyr) n.1609G>A c.3281G>A (p.Cys1094Tyr) c.3206G>A (p.Cys1069Tyr) c.2156G>A (p.Cys719Tyr) c.2180G>A (p.Cys727Tyr) c.2231G>A (p.Cys744Tyr) c.1958G>A (p.Cys653Tyr) c.2282G>A (p.Cys761Tyr) c.2192G>A (p.Cys731Tyr) c.2183G>A (p.Cys728Tyr) | gnomAD v4 |
3 | g.123291235A>C | CA354223589 | ADCY5 | c.1882T>G (p.Cys628Gly) c.2170T>G (p.Cys724Gly) n.1608T>G c.3280T>G (p.Cys1094Gly) c.3205T>G (p.Cys1069Gly) c.2155T>G (p.Cys719Gly) c.2179T>G (p.Cys727Gly) c.2230T>G (p.Cys744Gly) c.1957T>G (p.Cys653Gly) c.2281T>G (p.Cys761Gly) c.2191T>G (p.Cys731Gly) c.2182T>G (p.Cys728Gly) | |
3 | g.123291235A>G | CA354223588 | ADCY5 | c.1882T>C (p.Cys628Arg) c.2170T>C (p.Cys724Arg) n.1608T>C c.3280T>C (p.Cys1094Arg) c.3205T>C (p.Cys1069Arg) c.2155T>C (p.Cys719Arg) c.2179T>C (p.Cys727Arg) c.2230T>C (p.Cys744Arg) c.1957T>C (p.Cys653Arg) c.2281T>C (p.Cys761Arg) c.2191T>C (p.Cys731Arg) c.2182T>C (p.Cys728Arg) | |
3 | g.123291235A>T | CA354223587 | ADCY5 | c.1882T>A (p.Cys628Ser) c.2170T>A (p.Cys724Ser) n.1608T>A c.3280T>A (p.Cys1094Ser) c.3205T>A (p.Cys1069Ser) c.2155T>A (p.Cys719Ser) c.2179T>A (p.Cys727Ser) c.2230T>A (p.Cys744Ser) c.1957T>A (p.Cys653Ser) c.2281T>A (p.Cys761Ser) c.2191T>A (p.Cys731Ser) c.2182T>A (p.Cys728Ser) | |
3 | g.123291236C>A | CA354223590 | ADCY5 | c.1881G>T (p.Glu627Asp) c.2169G>T (p.Glu723Asp) n.1607G>T c.3279G>T (p.Glu1093Asp) c.3204G>T (p.Glu1068Asp) c.2154G>T (p.Glu718Asp) c.2178G>T (p.Glu726Asp) c.2229G>T (p.Glu743Asp) c.1956G>T (p.Glu652Asp) c.2280G>T (p.Glu760Asp) c.2190G>T (p.Glu730Asp) c.2181G>T (p.Glu727Asp) | |
3 | g.123291236C= | CA1398330405 | ADCY5 | c.1881G= (p.Glu627=) c.2169G= (p.Glu723=) n.1607G= c.3279G= (p.Glu1093=) c.3204G= (p.Glu1068=) c.2154G= (p.Glu718=) c.2178G= (p.Glu726=) c.2229G= (p.Glu743=) c.1956G= (p.Glu652=) c.2280G= (p.Glu760=) c.2190G= (p.Glu730=) c.2181G= (p.Glu727=) | |
3 | g.123291236C>G | CA354223591 | ADCY5 | c.1881G>C (p.Glu627Asp) c.2169G>C (p.Glu723Asp) n.1607G>C c.3279G>C (p.Glu1093Asp) c.3204G>C (p.Glu1068Asp) c.2154G>C (p.Glu718Asp) c.2178G>C (p.Glu726Asp) c.2229G>C (p.Glu743Asp) c.1956G>C (p.Glu652Asp) c.2280G>C (p.Glu760Asp) c.2190G>C (p.Glu730Asp) c.2181G>C (p.Glu727Asp) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.123291236C>T | CA82904060 | ADCY5 | c.1881G>A (p.Glu627=) c.2169G>A (p.Glu723=) n.1607G>A c.3279G>A (p.Glu1093=) c.3204G>A (p.Glu1068=) c.2154G>A (p.Glu718=) c.2178G>A (p.Glu726=) c.2229G>A (p.Glu743=) c.1956G>A (p.Glu652=) c.2280G>A (p.Glu760=) c.2190G>A (p.Glu730=) c.2181G>A (p.Glu727=) | dbSNP |
3 | g.123291237T>A | CA354223592 | ADCY5 | c.1880A>T (p.Glu627Val) c.2168A>T (p.Glu723Val) n.1606A>T c.3278A>T (p.Glu1093Val) c.3203A>T (p.Glu1068Val) c.2153A>T (p.Glu718Val) c.2177A>T (p.Glu726Val) c.2228A>T (p.Glu743Val) c.1955A>T (p.Glu652Val) c.2279A>T (p.Glu760Val) c.2189A>T (p.Glu730Val) c.2180A>T (p.Glu727Val) | |
3 | g.123291237T>C | CA354223594 | ADCY5 | c.1880A>G (p.Glu627Gly) c.2168A>G (p.Glu723Gly) n.1606A>G c.3278A>G (p.Glu1093Gly) c.3203A>G (p.Glu1068Gly) c.2153A>G (p.Glu718Gly) c.2177A>G (p.Glu726Gly) c.2228A>G (p.Glu743Gly) c.1955A>G (p.Glu652Gly) c.2279A>G (p.Glu760Gly) c.2189A>G (p.Glu730Gly) c.2180A>G (p.Glu727Gly) | COSMIC |
3 | g.123291237T>G | CA354223593 | ADCY5 | c.1880A>C (p.Glu627Ala) c.2168A>C (p.Glu723Ala) n.1606A>C c.3278A>C (p.Glu1093Ala) c.3203A>C (p.Glu1068Ala) c.2153A>C (p.Glu718Ala) c.2177A>C (p.Glu726Ala) c.2228A>C (p.Glu743Ala) c.1955A>C (p.Glu652Ala) c.2279A>C (p.Glu760Ala) c.2189A>C (p.Glu730Ala) c.2180A>C (p.Glu727Ala) | |
3 | g.123291238C>A | CA354223595 | ADCY5 | c.1879G>T (p.Glu627Ter) c.2167G>T (p.Glu723Ter) n.1605G>T c.3277G>T (p.Glu1093Ter) c.3202G>T (p.Glu1068Ter) c.2152G>T (p.Glu718Ter) c.2176G>T (p.Glu726Ter) c.2227G>T (p.Glu743Ter) c.1954G>T (p.Glu652Ter) c.2278G>T (p.Glu760Ter) c.2188G>T (p.Glu730Ter) c.2179G>T (p.Glu727Ter) | dbSNP |
3 | g.123291238C= | CA1398330406 | ADCY5 | c.1879G= (p.Glu627=) c.2167G= (p.Glu723=) n.1605G= c.3277G= (p.Glu1093=) c.3202G= (p.Glu1068=) c.2152G= (p.Glu718=) c.2176G= (p.Glu726=) c.2227G= (p.Glu743=) c.1954G= (p.Glu652=) c.2278G= (p.Glu760=) c.2188G= (p.Glu730=) c.2179G= (p.Glu727=) | |
3 | g.123291238C>G | CA354223597 | ADCY5 | c.1879G>C (p.Glu627Gln) c.2167G>C (p.Glu723Gln) n.1605G>C c.3277G>C (p.Glu1093Gln) c.3202G>C (p.Glu1068Gln) c.2152G>C (p.Glu718Gln) c.2176G>C (p.Glu726Gln) c.2227G>C (p.Glu743Gln) c.1954G>C (p.Glu652Gln) c.2278G>C (p.Glu760Gln) c.2188G>C (p.Glu730Gln) c.2179G>C (p.Glu727Gln) | |
3 | g.123291238C>T | CA354223596 | ADCY5 | c.1879G>A (p.Glu627Lys) c.2167G>A (p.Glu723Lys) n.1605G>A c.3277G>A (p.Glu1093Lys) c.3202G>A (p.Glu1068Lys) c.2152G>A (p.Glu718Lys) c.2176G>A (p.Glu726Lys) c.2227G>A (p.Glu743Lys) c.1954G>A (p.Glu652Lys) c.2278G>A (p.Glu760Lys) c.2188G>A (p.Glu730Lys) c.2179G>A (p.Glu727Lys) | |
3 | g.123291239A= | CA1398330407 | ADCY5 | c.1878T= (p.Cys626=) c.2166T= (p.Cys722=) n.1604T= c.3276T= (p.Cys1092=) c.3201T= (p.Cys1067=) c.2151T= (p.Cys717=) c.2175T= (p.Cys725=) c.2226T= (p.Cys742=) c.1953T= (p.Cys651=) c.2277T= (p.Cys759=) c.2187T= (p.Cys729=) c.2178T= (p.Cys726=) | |
3 | g.123291239A>C | CA354223598 | ADCY5 | c.1878T>G (p.Cys626Trp) c.2166T>G (p.Cys722Trp) n.1604T>G c.3276T>G (p.Cys1092Trp) c.3201T>G (p.Cys1067Trp) c.2151T>G (p.Cys717Trp) c.2175T>G (p.Cys725Trp) c.2226T>G (p.Cys742Trp) c.1953T>G (p.Cys651Trp) c.2277T>G (p.Cys759Trp) c.2187T>G (p.Cys729Trp) c.2178T>G (p.Cys726Trp) | |
3 | g.123291239A>G | CA435431399 | ADCY5 | c.1878T>C (p.Cys626=) c.2166T>C (p.Cys722=) n.1604T>C c.3276T>C (p.Cys1092=) c.3201T>C (p.Cys1067=) c.2151T>C (p.Cys717=) c.2175T>C (p.Cys725=) c.2226T>C (p.Cys742=) c.1953T>C (p.Cys651=) c.2277T>C (p.Cys759=) c.2187T>C (p.Cys729=) c.2178T>C (p.Cys726=) | |
3 | g.123291239A>T | CA354223599 | ADCY5 | c.1878T>A (p.Cys626Ter) c.2166T>A (p.Cys722Ter) n.1604T>A c.3276T>A (p.Cys1092Ter) c.3201T>A (p.Cys1067Ter) c.2151T>A (p.Cys717Ter) c.2175T>A (p.Cys725Ter) c.2226T>A (p.Cys742Ter) c.1953T>A (p.Cys651Ter) c.2277T>A (p.Cys759Ter) c.2187T>A (p.Cys729Ter) c.2178T>A (p.Cys726Ter) | dbSNP gnomAD v4 |
3 | g.123291240C>A | CA354223600 | ADCY5 | c.1877G>T (p.Cys626Phe) c.2165G>T (p.Cys722Phe) n.1603G>T c.3275G>T (p.Cys1092Phe) c.3200G>T (p.Cys1067Phe) c.2150G>T (p.Cys717Phe) c.2174G>T (p.Cys725Phe) c.2225G>T (p.Cys742Phe) c.1952G>T (p.Cys651Phe) c.2276G>T (p.Cys759Phe) c.2186G>T (p.Cys729Phe) c.2177G>T (p.Cys726Phe) | |
3 | g.123291240C>G | CA354223601 | ADCY5 | c.1877G>C (p.Cys626Ser) c.2165G>C (p.Cys722Ser) n.1603G>C c.3275G>C (p.Cys1092Ser) c.3200G>C (p.Cys1067Ser) c.2150G>C (p.Cys717Ser) c.2174G>C (p.Cys725Ser) c.2225G>C (p.Cys742Ser) c.1952G>C (p.Cys651Ser) c.2276G>C (p.Cys759Ser) c.2186G>C (p.Cys729Ser) c.2177G>C (p.Cys726Ser) | |
3 | g.123291240C>T | CA354223602 | ADCY5 | c.1877G>A (p.Cys626Tyr) c.2165G>A (p.Cys722Tyr) n.1603G>A c.3275G>A (p.Cys1092Tyr) c.3200G>A (p.Cys1067Tyr) c.2150G>A (p.Cys717Tyr) c.2174G>A (p.Cys725Tyr) c.2225G>A (p.Cys742Tyr) c.1952G>A (p.Cys651Tyr) c.2276G>A (p.Cys759Tyr) c.2186G>A (p.Cys729Tyr) c.2177G>A (p.Cys726Tyr) | |
3 | g.123291241A>C | CA354223603 | ADCY5 | c.1876T>G (p.Cys626Gly) c.2164T>G (p.Cys722Gly) n.1602T>G c.3274T>G (p.Cys1092Gly) c.3199T>G (p.Cys1067Gly) c.2149T>G (p.Cys717Gly) c.2173T>G (p.Cys725Gly) c.2224T>G (p.Cys742Gly) c.1951T>G (p.Cys651Gly) c.2275T>G (p.Cys759Gly) c.2185T>G (p.Cys729Gly) c.2176T>G (p.Cys726Gly) | |
3 | g.123291241A>G | CA354223604 | ADCY5 | c.1876T>C (p.Cys626Arg) c.2164T>C (p.Cys722Arg) n.1602T>C c.3274T>C (p.Cys1092Arg) c.3199T>C (p.Cys1067Arg) c.2149T>C (p.Cys717Arg) c.2173T>C (p.Cys725Arg) c.2224T>C (p.Cys742Arg) c.1951T>C (p.Cys651Arg) c.2275T>C (p.Cys759Arg) c.2185T>C (p.Cys729Arg) c.2176T>C (p.Cys726Arg) | |
3 | g.123291241A>T | CA354223605 | ADCY5 | c.1876T>A (p.Cys626Ser) c.2164T>A (p.Cys722Ser) n.1602T>A c.3274T>A (p.Cys1092Ser) c.3199T>A (p.Cys1067Ser) c.2149T>A (p.Cys717Ser) c.2173T>A (p.Cys725Ser) c.2224T>A (p.Cys742Ser) c.1951T>A (p.Cys651Ser) c.2275T>A (p.Cys759Ser) c.2185T>A (p.Cys729Ser) c.2176T>A (p.Cys726Ser) | |
3 | g.123291242G>A | CA435431400 | ADCY5 | c.1875C>T (p.Ser625=) c.2163C>T (p.Ser721=) n.1601C>T c.3273C>T (p.Ser1091=) c.3198C>T (p.Ser1066=) c.2148C>T (p.Ser716=) c.2172C>T (p.Ser724=) c.2223C>T (p.Ser741=) c.1950C>T (p.Ser650=) c.2274C>T (p.Ser758=) c.2184C>T (p.Ser728=) c.2175C>T (p.Ser725=) | |
3 | g.123291242G>C | CA435431401 | ADCY5 | c.1875C>G (p.Ser625=) c.2163C>G (p.Ser721=) n.1601C>G c.3273C>G (p.Ser1091=) c.3198C>G (p.Ser1066=) c.2148C>G (p.Ser716=) c.2172C>G (p.Ser724=) c.2223C>G (p.Ser741=) c.1950C>G (p.Ser650=) c.2274C>G (p.Ser758=) c.2184C>G (p.Ser728=) c.2175C>G (p.Ser725=) | |
3 | g.123291242G>T | CA435431402 | ADCY5 | c.1875C>A (p.Ser625=) c.2163C>A (p.Ser721=) n.1601C>A c.3273C>A (p.Ser1091=) c.3198C>A (p.Ser1066=) c.2148C>A (p.Ser716=) c.2172C>A (p.Ser724=) c.2223C>A (p.Ser741=) c.1950C>A (p.Ser650=) c.2274C>A (p.Ser758=) c.2184C>A (p.Ser728=) c.2175C>A (p.Ser725=) | |
3 | g.123291243G>A | CA354223606 | ADCY5 | c.1874C>T (p.Ser625Phe) c.2162C>T (p.Ser721Phe) n.1600C>T c.3272C>T (p.Ser1091Phe) c.3197C>T (p.Ser1066Phe) c.2147C>T (p.Ser716Phe) c.2171C>T (p.Ser724Phe) c.2222C>T (p.Ser741Phe) c.1949C>T (p.Ser650Phe) c.2273C>T (p.Ser758Phe) c.2183C>T (p.Ser728Phe) c.2174C>T (p.Ser725Phe) | |
3 | g.123291243G>C | CA354223607 | ADCY5 | c.1874C>G (p.Ser625Cys) c.2162C>G (p.Ser721Cys) n.1600C>G c.3272C>G (p.Ser1091Cys) c.3197C>G (p.Ser1066Cys) c.2147C>G (p.Ser716Cys) c.2171C>G (p.Ser724Cys) c.2222C>G (p.Ser741Cys) c.1949C>G (p.Ser650Cys) c.2273C>G (p.Ser758Cys) c.2183C>G (p.Ser728Cys) c.2174C>G (p.Ser725Cys) | |
3 | g.123291243G>T | CA354223608 | ADCY5 | c.1874C>A (p.Ser625Tyr) c.2162C>A (p.Ser721Tyr) n.1600C>A c.3272C>A (p.Ser1091Tyr) c.3197C>A (p.Ser1066Tyr) c.2147C>A (p.Ser716Tyr) c.2171C>A (p.Ser724Tyr) c.2222C>A (p.Ser741Tyr) c.1949C>A (p.Ser650Tyr) c.2273C>A (p.Ser758Tyr) c.2183C>A (p.Ser728Tyr) c.2174C>A (p.Ser725Tyr) | |
3 | g.123291244A>C | CA354223611 | ADCY5 | c.1873T>G (p.Ser625Ala) c.2161T>G (p.Ser721Ala) n.1599T>G c.3271T>G (p.Ser1091Ala) c.3196T>G (p.Ser1066Ala) c.2146T>G (p.Ser716Ala) c.2170T>G (p.Ser724Ala) c.2221T>G (p.Ser741Ala) c.1948T>G (p.Ser650Ala) c.2272T>G (p.Ser758Ala) c.2182T>G (p.Ser728Ala) c.2173T>G (p.Ser725Ala) | |
3 | g.123291244A>G | CA354223609 | ADCY5 | c.1873T>C (p.Ser625Pro) c.2161T>C (p.Ser721Pro) n.1599T>C c.3271T>C (p.Ser1091Pro) c.3196T>C (p.Ser1066Pro) c.2146T>C (p.Ser716Pro) c.2170T>C (p.Ser724Pro) c.2221T>C (p.Ser741Pro) c.1948T>C (p.Ser650Pro) c.2272T>C (p.Ser758Pro) c.2182T>C (p.Ser728Pro) c.2173T>C (p.Ser725Pro) | |
3 | g.123291244A>T | CA354223610 | ADCY5 | c.1873T>A (p.Ser625Thr) c.2161T>A (p.Ser721Thr) n.1599T>A c.3271T>A (p.Ser1091Thr) c.3196T>A (p.Ser1066Thr) c.2146T>A (p.Ser716Thr) c.2170T>A (p.Ser724Thr) c.2221T>A (p.Ser741Thr) c.1948T>A (p.Ser650Thr) c.2272T>A (p.Ser758Thr) c.2182T>A (p.Ser728Thr) c.2173T>A (p.Ser725Thr) | |
3 | g.123291245C>A | CA354223612 | ADCY5 | c.1872G>T (p.Gln624His) c.2160G>T (p.Gln720His) n.1598G>T c.3270G>T (p.Gln1090His) c.3195G>T (p.Gln1065His) c.2145G>T (p.Gln715His) c.2169G>T (p.Gln723His) c.2220G>T (p.Gln740His) c.1947G>T (p.Gln649His) c.2271G>T (p.Gln757His) c.2181G>T (p.Gln727His) c.2172G>T (p.Gln724His) | |
3 | g.123291245C= | CA1398330408 | ADCY5 | c.1872G= (p.Gln624=) c.2160G= (p.Gln720=) n.1598G= c.3270G= (p.Gln1090=) c.3195G= (p.Gln1065=) c.2145G= (p.Gln715=) c.2169G= (p.Gln723=) c.2220G= (p.Gln740=) c.1947G= (p.Gln649=) c.2271G= (p.Gln757=) c.2181G= (p.Gln727=) c.2172G= (p.Gln724=) | |
3 | g.123291245C>G | CA354223613 | ADCY5 | c.1872G>C (p.Gln624His) c.2160G>C (p.Gln720His) n.1598G>C c.3270G>C (p.Gln1090His) c.3195G>C (p.Gln1065His) c.2145G>C (p.Gln715His) c.2169G>C (p.Gln723His) c.2220G>C (p.Gln740His) c.1947G>C (p.Gln649His) c.2271G>C (p.Gln757His) c.2181G>C (p.Gln727His) c.2172G>C (p.Gln724His) | |
3 | g.123291245C>T | CA435431404 | ADCY5 | c.1872G>A (p.Gln624=) c.2160G>A (p.Gln720=) n.1598G>A c.3270G>A (p.Gln1090=) c.3195G>A (p.Gln1065=) c.2145G>A (p.Gln715=) c.2169G>A (p.Gln723=) c.2220G>A (p.Gln740=) c.1947G>A (p.Gln649=) c.2271G>A (p.Gln757=) c.2181G>A (p.Gln727=) c.2172G>A (p.Gln724=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.123291246T>A | CA354223614 | ADCY5 | c.1871A>T (p.Gln624Leu) c.2159A>T (p.Gln720Leu) n.1597A>T c.3269A>T (p.Gln1090Leu) c.3194A>T (p.Gln1065Leu) c.2144A>T (p.Gln715Leu) c.2168A>T (p.Gln723Leu) c.2219A>T (p.Gln740Leu) c.1946A>T (p.Gln649Leu) c.2270A>T (p.Gln757Leu) c.2180A>T (p.Gln727Leu) c.2171A>T (p.Gln724Leu) | |
3 | g.123291246T>C | CA354223615 | ADCY5 | c.1871A>G (p.Gln624Arg) c.2159A>G (p.Gln720Arg) n.1597A>G c.3269A>G (p.Gln1090Arg) c.3194A>G (p.Gln1065Arg) c.2144A>G (p.Gln715Arg) c.2168A>G (p.Gln723Arg) c.2219A>G (p.Gln740Arg) c.1946A>G (p.Gln649Arg) c.2270A>G (p.Gln757Arg) c.2180A>G (p.Gln727Arg) c.2171A>G (p.Gln724Arg) | |
3 | g.123291246T>G | CA354223616 | ADCY5 | c.1871A>C (p.Gln624Pro) c.2159A>C (p.Gln720Pro) n.1597A>C c.3269A>C (p.Gln1090Pro) c.3194A>C (p.Gln1065Pro) c.2144A>C (p.Gln715Pro) c.2168A>C (p.Gln723Pro) c.2219A>C (p.Gln740Pro) c.1946A>C (p.Gln649Pro) c.2270A>C (p.Gln757Pro) c.2180A>C (p.Gln727Pro) c.2171A>C (p.Gln724Pro) | |
3 | g.123291247G>A | CA354223617 | ADCY5 | c.1870C>T (p.Gln624Ter) c.2158C>T (p.Gln720Ter) n.1596C>T c.3268C>T (p.Gln1090Ter) c.3193C>T (p.Gln1065Ter) c.2143C>T (p.Gln715Ter) c.2167C>T (p.Gln723Ter) c.2218C>T (p.Gln740Ter) c.1945C>T (p.Gln649Ter) c.2269C>T (p.Gln757Ter) c.2179C>T (p.Gln727Ter) c.2170C>T (p.Gln724Ter) | dbSNP |
3 | g.123291247G>C | CA354223618 | ADCY5 | c.1870C>G (p.Gln624Glu) c.2158C>G (p.Gln720Glu) n.1596C>G c.3268C>G (p.Gln1090Glu) c.3193C>G (p.Gln1065Glu) c.2143C>G (p.Gln715Glu) c.2167C>G (p.Gln723Glu) c.2218C>G (p.Gln740Glu) c.1945C>G (p.Gln649Glu) c.2269C>G (p.Gln757Glu) c.2179C>G (p.Gln727Glu) c.2170C>G (p.Gln724Glu) | |
3 | g.123291247G= | CA1398330409 | ADCY5 | c.1870C= (p.Gln624=) c.2158C= (p.Gln720=) n.1596C= c.3268C= (p.Gln1090=) c.3193C= (p.Gln1065=) c.2143C= (p.Gln715=) c.2167C= (p.Gln723=) c.2218C= (p.Gln740=) c.1945C= (p.Gln649=) c.2269C= (p.Gln757=) c.2179C= (p.Gln727=) c.2170C= (p.Gln724=) | |
3 | g.123291247G>T | CA354223619 | ADCY5 | c.1870C>A (p.Gln624Lys) c.2158C>A (p.Gln720Lys) n.1596C>A c.3268C>A (p.Gln1090Lys) c.3193C>A (p.Gln1065Lys) c.2143C>A (p.Gln715Lys) c.2167C>A (p.Gln723Lys) c.2218C>A (p.Gln740Lys) c.1945C>A (p.Gln649Lys) c.2269C>A (p.Gln757Lys) c.2179C>A (p.Gln727Lys) c.2170C>A (p.Gln724Lys) | |
3 | g.123291248A>C | CA354223620 | ADCY5 | c.1869T>G (p.Tyr623Ter) c.2157T>G (p.Tyr719Ter) n.1595T>G c.3267T>G (p.Tyr1089Ter) c.3192T>G (p.Tyr1064Ter) c.2142T>G (p.Tyr714Ter) c.2166T>G (p.Tyr722Ter) c.2217T>G (p.Tyr739Ter) c.1944T>G (p.Tyr648Ter) c.2268T>G (p.Tyr756Ter) c.2178T>G (p.Tyr726Ter) c.2169T>G (p.Tyr723Ter) | |
3 | g.123291248A>G | CA435431405 | ADCY5 | c.1869T>C (p.Tyr623=) c.2157T>C (p.Tyr719=) n.1595T>C c.3267T>C (p.Tyr1089=) c.3192T>C (p.Tyr1064=) c.2142T>C (p.Tyr714=) c.2166T>C (p.Tyr722=) c.2217T>C (p.Tyr739=) c.1944T>C (p.Tyr648=) c.2268T>C (p.Tyr756=) c.2178T>C (p.Tyr726=) c.2169T>C (p.Tyr723=) | |
3 | g.123291248A>T | CA354223621 | ADCY5 | c.1869T>A (p.Tyr623Ter) c.2157T>A (p.Tyr719Ter) n.1595T>A c.3267T>A (p.Tyr1089Ter) c.3192T>A (p.Tyr1064Ter) c.2142T>A (p.Tyr714Ter) c.2166T>A (p.Tyr722Ter) c.2217T>A (p.Tyr739Ter) c.1944T>A (p.Tyr648Ter) c.2268T>A (p.Tyr756Ter) c.2178T>A (p.Tyr726Ter) c.2169T>A (p.Tyr723Ter) | |
3 | g.123291249T>A | CA354223623 | ADCY5 | c.1868A>T (p.Tyr623Phe) c.2156A>T (p.Tyr719Phe) n.1594A>T c.3266A>T (p.Tyr1089Phe) c.3191A>T (p.Tyr1064Phe) c.2141A>T (p.Tyr714Phe) c.2165A>T (p.Tyr722Phe) c.2216A>T (p.Tyr739Phe) c.1943A>T (p.Tyr648Phe) c.2267A>T (p.Tyr756Phe) c.2177A>T (p.Tyr726Phe) c.2168A>T (p.Tyr723Phe) | |
3 | g.123291249T>C | CA354223624 | ADCY5 | c.1868A>G (p.Tyr623Cys) c.2156A>G (p.Tyr719Cys) n.1594A>G c.3266A>G (p.Tyr1089Cys) c.3191A>G (p.Tyr1064Cys) c.2141A>G (p.Tyr714Cys) c.2165A>G (p.Tyr722Cys) c.2216A>G (p.Tyr739Cys) c.1943A>G (p.Tyr648Cys) c.2267A>G (p.Tyr756Cys) c.2177A>G (p.Tyr726Cys) c.2168A>G (p.Tyr723Cys) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.123291249T>G | CA354223622 | ADCY5 | c.1868A>C (p.Tyr623Ser) c.2156A>C (p.Tyr719Ser) n.1594A>C c.3266A>C (p.Tyr1089Ser) c.3191A>C (p.Tyr1064Ser) c.2141A>C (p.Tyr714Ser) c.2165A>C (p.Tyr722Ser) c.2216A>C (p.Tyr739Ser) c.1943A>C (p.Tyr648Ser) c.2267A>C (p.Tyr756Ser) c.2177A>C (p.Tyr726Ser) c.2168A>C (p.Tyr723Ser) | |
3 | g.123291249T= | CA1398330410 | ADCY5 | c.1868A= (p.Tyr623=) c.2156A= (p.Tyr719=) n.1594A= c.3266A= (p.Tyr1089=) c.3191A= (p.Tyr1064=) c.2141A= (p.Tyr714=) c.2165A= (p.Tyr722=) c.2216A= (p.Tyr739=) c.1943A= (p.Tyr648=) c.2267A= (p.Tyr756=) c.2177A= (p.Tyr726=) c.2168A= (p.Tyr723=) | |
3 | g.123291250A= | CA1398330411 | ADCY5 | c.1867T= (p.Tyr623=) c.2155T= (p.Tyr719=) n.1593T= c.3265T= (p.Tyr1089=) c.3190T= (p.Tyr1064=) c.2140T= (p.Tyr714=) c.2164T= (p.Tyr722=) c.2215T= (p.Tyr739=) c.1942T= (p.Tyr648=) c.2266T= (p.Tyr756=) c.2176T= (p.Tyr726=) c.2167T= (p.Tyr723=) | |
3 | g.123291250A>C | CA354223625 | ADCY5 | c.1867T>G (p.Tyr623Asp) c.2155T>G (p.Tyr719Asp) n.1593T>G c.3265T>G (p.Tyr1089Asp) c.3190T>G (p.Tyr1064Asp) c.2140T>G (p.Tyr714Asp) c.2164T>G (p.Tyr722Asp) c.2215T>G (p.Tyr739Asp) c.1942T>G (p.Tyr648Asp) c.2266T>G (p.Tyr756Asp) c.2176T>G (p.Tyr726Asp) c.2167T>G (p.Tyr723Asp) | |
3 | g.123291250A>G | CA2576831 | ADCY5 | c.1867T>C (p.Tyr623His) c.2155T>C (p.Tyr719His) n.1593T>C c.3265T>C (p.Tyr1089His) c.3190T>C (p.Tyr1064His) c.2140T>C (p.Tyr714His) c.2164T>C (p.Tyr722His) c.2215T>C (p.Tyr739His) c.1942T>C (p.Tyr648His) c.2266T>C (p.Tyr756His) c.2176T>C (p.Tyr726His) c.2167T>C (p.Tyr723His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.123291250A>T | CA354223626 | ADCY5 | c.1867T>A (p.Tyr623Asn) c.2155T>A (p.Tyr719Asn) n.1593T>A c.3265T>A (p.Tyr1089Asn) c.3190T>A (p.Tyr1064Asn) c.2140T>A (p.Tyr714Asn) c.2164T>A (p.Tyr722Asn) c.2215T>A (p.Tyr739Asn) c.1942T>A (p.Tyr648Asn) c.2266T>A (p.Tyr756Asn) c.2176T>A (p.Tyr726Asn) c.2167T>A (p.Tyr723Asn) | COSMIC |
3 | g.123291251G>A | CA435431408 | ADCY5 | c.1866C>T (p.Tyr622=) c.2154C>T (p.Tyr718=) n.1592C>T c.3264C>T (p.Tyr1088=) c.3189C>T (p.Tyr1063=) c.2139C>T (p.Tyr713=) c.2163C>T (p.Tyr721=) c.2214C>T (p.Tyr738=) c.1941C>T (p.Tyr647=) c.2265C>T (p.Tyr755=) c.2175C>T (p.Tyr725=) c.2166C>T (p.Tyr722=) | |
3 | g.123291251G>C | CA354223627 | ADCY5 | c.1866C>G (p.Tyr622Ter) c.2154C>G (p.Tyr718Ter) n.1592C>G c.3264C>G (p.Tyr1088Ter) c.3189C>G (p.Tyr1063Ter) c.2139C>G (p.Tyr713Ter) c.2163C>G (p.Tyr721Ter) c.2214C>G (p.Tyr738Ter) c.1941C>G (p.Tyr647Ter) c.2265C>G (p.Tyr755Ter) c.2175C>G (p.Tyr725Ter) c.2166C>G (p.Tyr722Ter) | |
3 | g.123291251G>T | CA354223628 | ADCY5 | c.1866C>A (p.Tyr622Ter) c.2154C>A (p.Tyr718Ter) n.1592C>A c.3264C>A (p.Tyr1088Ter) c.3189C>A (p.Tyr1063Ter) c.2139C>A (p.Tyr713Ter) c.2163C>A (p.Tyr721Ter) c.2214C>A (p.Tyr738Ter) c.1941C>A (p.Tyr647Ter) c.2265C>A (p.Tyr755Ter) c.2175C>A (p.Tyr725Ter) c.2166C>A (p.Tyr722Ter) | |
3 | g.123291252T>A | CA354223631 | ADCY5 | c.1865A>T (p.Tyr622Phe) c.2153A>T (p.Tyr718Phe) n.1591A>T c.3263A>T (p.Tyr1088Phe) c.3188A>T (p.Tyr1063Phe) c.2138A>T (p.Tyr713Phe) c.2162A>T (p.Tyr721Phe) c.2213A>T (p.Tyr738Phe) c.1940A>T (p.Tyr647Phe) c.2264A>T (p.Tyr755Phe) c.2174A>T (p.Tyr725Phe) c.2165A>T (p.Tyr722Phe) | |
3 | g.123291252T>C | CA354223630 | ADCY5 | c.1865A>G (p.Tyr622Cys) c.2153A>G (p.Tyr718Cys) n.1591A>G c.3263A>G (p.Tyr1088Cys) c.3188A>G (p.Tyr1063Cys) c.2138A>G (p.Tyr713Cys) c.2162A>G (p.Tyr721Cys) c.2213A>G (p.Tyr738Cys) c.1940A>G (p.Tyr647Cys) c.2264A>G (p.Tyr755Cys) c.2174A>G (p.Tyr725Cys) c.2165A>G (p.Tyr722Cys) | |
3 | g.123291252T>G | CA354223629 | ADCY5 | c.1865A>C (p.Tyr622Ser) c.2153A>C (p.Tyr718Ser) n.1591A>C c.3263A>C (p.Tyr1088Ser) c.3188A>C (p.Tyr1063Ser) c.2138A>C (p.Tyr713Ser) c.2162A>C (p.Tyr721Ser) c.2213A>C (p.Tyr738Ser) c.1940A>C (p.Tyr647Ser) c.2264A>C (p.Tyr755Ser) c.2174A>C (p.Tyr725Ser) c.2165A>C (p.Tyr722Ser) | |
3 | g.123291253A>C | CA354223632 | ADCY5 | c.1864T>G (p.Tyr622Asp) c.2152T>G (p.Tyr718Asp) n.1590T>G c.3262T>G (p.Tyr1088Asp) c.3187T>G (p.Tyr1063Asp) c.2137T>G (p.Tyr713Asp) c.2161T>G (p.Tyr721Asp) c.2212T>G (p.Tyr738Asp) c.1939T>G (p.Tyr647Asp) c.2263T>G (p.Tyr755Asp) c.2173T>G (p.Tyr725Asp) c.2164T>G (p.Tyr722Asp) | |
3 | g.123291253A>G | CA354223633 | ADCY5 | c.1864T>C (p.Tyr622His) c.2152T>C (p.Tyr718His) n.1590T>C c.3262T>C (p.Tyr1088His) c.3187T>C (p.Tyr1063His) c.2137T>C (p.Tyr713His) c.2161T>C (p.Tyr721His) c.2212T>C (p.Tyr738His) c.1939T>C (p.Tyr647His) c.2263T>C (p.Tyr755His) c.2173T>C (p.Tyr725His) c.2164T>C (p.Tyr722His) | |
3 | g.123291253A>T | CA354223634 | ADCY5 | c.1864T>A (p.Tyr622Asn) c.2152T>A (p.Tyr718Asn) n.1590T>A c.3262T>A (p.Tyr1088Asn) c.3187T>A (p.Tyr1063Asn) c.2137T>A (p.Tyr713Asn) c.2161T>A (p.Tyr721Asn) c.2212T>A (p.Tyr738Asn) c.1939T>A (p.Tyr647Asn) c.2263T>A (p.Tyr755Asn) c.2173T>A (p.Tyr725Asn) c.2164T>A (p.Tyr722Asn) | |
3 | g.123291254G>A | CA435431411 | ADCY5 | c.1863C>T (p.Leu621=) c.2151C>T (p.Leu717=) n.1589C>T c.3261C>T (p.Leu1087=) c.3186C>T (p.Leu1062=) c.2136C>T (p.Leu712=) c.2160C>T (p.Leu720=) c.2211C>T (p.Leu737=) c.1938C>T (p.Leu646=) c.2262C>T (p.Leu754=) c.2172C>T (p.Leu724=) c.2163C>T (p.Leu721=) | COSMIC |
3 | g.123291254G>C | CA435431414 | ADCY5 | c.1863C>G (p.Leu621=) c.2151C>G (p.Leu717=) n.1589C>G c.3261C>G (p.Leu1087=) c.3186C>G (p.Leu1062=) c.2136C>G (p.Leu712=) c.2160C>G (p.Leu720=) c.2211C>G (p.Leu737=) c.1938C>G (p.Leu646=) c.2262C>G (p.Leu754=) c.2172C>G (p.Leu724=) c.2163C>G (p.Leu721=) | |
3 | g.123291254G>T | CA435431412 | ADCY5 | c.1863C>A (p.Leu621=) c.2151C>A (p.Leu717=) n.1589C>A c.3261C>A (p.Leu1087=) c.3186C>A (p.Leu1062=) c.2136C>A (p.Leu712=) c.2160C>A (p.Leu720=) c.2211C>A (p.Leu737=) c.1938C>A (p.Leu646=) c.2262C>A (p.Leu754=) c.2172C>A (p.Leu724=) c.2163C>A (p.Leu721=) | |
3 | g.123291255A>C | CA354223635 | ADCY5 | c.1862T>G (p.Leu621Arg) c.2150T>G (p.Leu717Arg) n.1588T>G c.3260T>G (p.Leu1087Arg) c.3185T>G (p.Leu1062Arg) c.2135T>G (p.Leu712Arg) c.2159T>G (p.Leu720Arg) c.2210T>G (p.Leu737Arg) c.1937T>G (p.Leu646Arg) c.2261T>G (p.Leu754Arg) c.2171T>G (p.Leu724Arg) c.2162T>G (p.Leu721Arg) | |
3 | g.123291255A>G | CA354223636 | ADCY5 | c.1862T>C (p.Leu621Pro) c.2150T>C (p.Leu717Pro) n.1588T>C c.3260T>C (p.Leu1087Pro) c.3185T>C (p.Leu1062Pro) c.2135T>C (p.Leu712Pro) c.2159T>C (p.Leu720Pro) c.2210T>C (p.Leu737Pro) c.1937T>C (p.Leu646Pro) c.2261T>C (p.Leu754Pro) c.2171T>C (p.Leu724Pro) c.2162T>C (p.Leu721Pro) | |
3 | g.123291255A>T | CA354223637 | ADCY5 | c.1862T>A (p.Leu621His) c.2150T>A (p.Leu717His) n.1588T>A c.3260T>A (p.Leu1087His) c.3185T>A (p.Leu1062His) c.2135T>A (p.Leu712His) c.2159T>A (p.Leu720His) c.2210T>A (p.Leu737His) c.1937T>A (p.Leu646His) c.2261T>A (p.Leu754His) c.2171T>A (p.Leu724His) c.2162T>A (p.Leu721His) | |
3 | g.123291256G>A | CA354223638 | ADCY5 | c.1861C>T (p.Leu621Phe) c.2149C>T (p.Leu717Phe) n.1587C>T c.3259C>T (p.Leu1087Phe) c.3184C>T (p.Leu1062Phe) c.2134C>T (p.Leu712Phe) c.2158C>T (p.Leu720Phe) c.2209C>T (p.Leu737Phe) c.1936C>T (p.Leu646Phe) c.2260C>T (p.Leu754Phe) c.2170C>T (p.Leu724Phe) c.2161C>T (p.Leu721Phe) | |
3 | g.123291256G>C | CA354223640 | ADCY5 | c.1861C>G (p.Leu621Val) c.2149C>G (p.Leu717Val) n.1587C>G c.3259C>G (p.Leu1087Val) c.3184C>G (p.Leu1062Val) c.2134C>G (p.Leu712Val) c.2158C>G (p.Leu720Val) c.2209C>G (p.Leu737Val) c.1936C>G (p.Leu646Val) c.2260C>G (p.Leu754Val) c.2170C>G (p.Leu724Val) c.2161C>G (p.Leu721Val) | |
3 | g.123291256G>T | CA354223639 | ADCY5 | c.1861C>A (p.Leu621Ile) c.2149C>A (p.Leu717Ile) n.1587C>A c.3259C>A (p.Leu1087Ile) c.3184C>A (p.Leu1062Ile) c.2134C>A (p.Leu712Ile) c.2158C>A (p.Leu720Ile) c.2209C>A (p.Leu737Ile) c.1936C>A (p.Leu646Ile) c.2260C>A (p.Leu754Ile) c.2170C>A (p.Leu724Ile) c.2161C>A (p.Leu721Ile) | |
3 | g.123291257C>A | CA354223641 | ADCY5 | c.1860G>T (p.Glu620Asp) c.2148G>T (p.Glu716Asp) n.1586G>T c.3258G>T (p.Glu1086Asp) c.3183G>T (p.Glu1061Asp) c.2133G>T (p.Glu711Asp) c.2157G>T (p.Glu719Asp) c.2208G>T (p.Glu736Asp) c.1935G>T (p.Glu645Asp) c.2259G>T (p.Glu753Asp) c.2169G>T (p.Glu723Asp) c.2160G>T (p.Glu720Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.123291257C= | CA1398330412 | ADCY5 | c.1860G= (p.Glu620=) c.2148G= (p.Glu716=) n.1586G= c.3258G= (p.Glu1086=) c.3183G= (p.Glu1061=) c.2133G= (p.Glu711=) c.2157G= (p.Glu719=) c.2208G= (p.Glu736=) c.1935G= (p.Glu645=) c.2259G= (p.Glu753=) c.2169G= (p.Glu723=) c.2160G= (p.Glu720=) | |
3 | g.123291257C>G | CA354223642 | ADCY5 | c.1860G>C (p.Glu620Asp) c.2148G>C (p.Glu716Asp) n.1586G>C c.3258G>C (p.Glu1086Asp) c.3183G>C (p.Glu1061Asp) c.2133G>C (p.Glu711Asp) c.2157G>C (p.Glu719Asp) c.2208G>C (p.Glu736Asp) c.1935G>C (p.Glu645Asp) c.2259G>C (p.Glu753Asp) c.2169G>C (p.Glu723Asp) c.2160G>C (p.Glu720Asp) | |
3 | g.123291257C>T | CA2576832 | ADCY5 | c.1860G>A (p.Glu620=) c.2148G>A (p.Glu716=) n.1586G>A c.3258G>A (p.Glu1086=) c.3183G>A (p.Glu1061=) c.2133G>A (p.Glu711=) c.2157G>A (p.Glu719=) c.2208G>A (p.Glu736=) c.1935G>A (p.Glu645=) c.2259G>A (p.Glu753=) c.2169G>A (p.Glu723=) c.2160G>A (p.Glu720=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.123291258T>A | CA354223643 | ADCY5 | c.1859A>T (p.Glu620Val) c.2147A>T (p.Glu716Val) n.1585A>T c.3257A>T (p.Glu1086Val) c.3182A>T (p.Glu1061Val) c.2132A>T (p.Glu711Val) c.2156A>T (p.Glu719Val) c.2207A>T (p.Glu736Val) c.1934A>T (p.Glu645Val) c.2258A>T (p.Glu753Val) c.2168A>T (p.Glu723Val) c.2159A>T (p.Glu720Val) | |
3 | g.123291258T>C | CA354223644 | ADCY5 | c.1859A>G (p.Glu620Gly) c.2147A>G (p.Glu716Gly) n.1585A>G c.3257A>G (p.Glu1086Gly) c.3182A>G (p.Glu1061Gly) c.2132A>G (p.Glu711Gly) c.2156A>G (p.Glu719Gly) c.2207A>G (p.Glu736Gly) c.1934A>G (p.Glu645Gly) c.2258A>G (p.Glu753Gly) c.2168A>G (p.Glu723Gly) c.2159A>G (p.Glu720Gly) | |
3 | g.123291258T>G | CA354223645 | ADCY5 | c.1859A>C (p.Glu620Ala) c.2147A>C (p.Glu716Ala) n.1585A>C c.3257A>C (p.Glu1086Ala) c.3182A>C (p.Glu1061Ala) c.2132A>C (p.Glu711Ala) c.2156A>C (p.Glu719Ala) c.2207A>C (p.Glu736Ala) c.1934A>C (p.Glu645Ala) c.2258A>C (p.Glu753Ala) c.2168A>C (p.Glu723Ala) c.2159A>C (p.Glu720Ala) | |
3 | g.123291262_123291264del | CA2586973104 | ADCY5 | c.1857_1859del (p.Asp619del) c.2145_2147del (p.Asp715del) n.1583_1585del c.3255_3257del (p.Asp1085del) c.3180_3182del (p.Asp1060del) c.2130_2132del (p.Asp710del) c.2154_2156del (p.Asp718del) c.2205_2207del (p.Asp735del) c.1932_1934del (p.Asp644del) c.2256_2258del (p.Asp752del) c.2166_2168del (p.Asp722del) c.2157_2159del (p.Asp719del) | |
3 | g.123291259C>A | CA354223646 | ADCY5 | c.1858G>T (p.Glu620Ter) c.2146G>T (p.Glu716Ter) n.1584G>T c.3256G>T (p.Glu1086Ter) c.3181G>T (p.Glu1061Ter) c.2131G>T (p.Glu711Ter) c.2155G>T (p.Glu719Ter) c.2206G>T (p.Glu736Ter) c.1933G>T (p.Glu645Ter) c.2257G>T (p.Glu753Ter) c.2167G>T (p.Glu723Ter) c.2158G>T (p.Glu720Ter) | dbSNP |
3 | g.123291259C= | CA1398330413 | ADCY5 | c.1858G= (p.Glu620=) c.2146G= (p.Glu716=) n.1584G= c.3256G= (p.Glu1086=) c.3181G= (p.Glu1061=) c.2131G= (p.Glu711=) c.2155G= (p.Glu719=) c.2206G= (p.Glu736=) c.1933G= (p.Glu645=) c.2257G= (p.Glu753=) c.2167G= (p.Glu723=) c.2158G= (p.Glu720=) | |
3 | g.123291259C>G | CA354223647 | ADCY5 | c.1858G>C (p.Glu620Gln) c.2146G>C (p.Glu716Gln) n.1584G>C c.3256G>C (p.Glu1086Gln) c.3181G>C (p.Glu1061Gln) c.2131G>C (p.Glu711Gln) c.2155G>C (p.Glu719Gln) c.2206G>C (p.Glu736Gln) c.1933G>C (p.Glu645Gln) c.2257G>C (p.Glu753Gln) c.2167G>C (p.Glu723Gln) c.2158G>C (p.Glu720Gln) | |
3 | g.123291259C>T | CA354223648 | ADCY5 | c.1858G>A (p.Glu620Lys) c.2146G>A (p.Glu716Lys) n.1584G>A c.3256G>A (p.Glu1086Lys) c.3181G>A (p.Glu1061Lys) c.2131G>A (p.Glu711Lys) c.2155G>A (p.Glu719Lys) c.2206G>A (p.Glu736Lys) c.1933G>A (p.Glu645Lys) c.2257G>A (p.Glu753Lys) c.2167G>A (p.Glu723Lys) c.2158G>A (p.Glu720Lys) | |
3 | g.123291260A>C | CA354223649 | ADCY5 | c.1857T>G (p.Asp619Glu) c.2145T>G (p.Asp715Glu) n.1583T>G c.3255T>G (p.Asp1085Glu) c.3180T>G (p.Asp1060Glu) c.2130T>G (p.Asp710Glu) c.2154T>G (p.Asp718Glu) c.2205T>G (p.Asp735Glu) c.1932T>G (p.Asp644Glu) c.2256T>G (p.Asp752Glu) c.2166T>G (p.Asp722Glu) c.2157T>G (p.Asp719Glu) | ClinVar dbSNP gnomAD v4 |
3 | g.123291260A>G | CA435431418 | ADCY5 | c.1857T>C (p.Asp619=) c.2145T>C (p.Asp715=) n.1583T>C c.3255T>C (p.Asp1085=) c.3180T>C (p.Asp1060=) c.2130T>C (p.Asp710=) c.2154T>C (p.Asp718=) c.2205T>C (p.Asp735=) c.1932T>C (p.Asp644=) c.2256T>C (p.Asp752=) c.2166T>C (p.Asp722=) c.2157T>C (p.Asp719=) | |
3 | g.123291260A>T | CA354223650 | ADCY5 | c.1857T>A (p.Asp619Glu) c.2145T>A (p.Asp715Glu) n.1583T>A c.3255T>A (p.Asp1085Glu) c.3180T>A (p.Asp1060Glu) c.2130T>A (p.Asp710Glu) c.2154T>A (p.Asp718Glu) c.2205T>A (p.Asp735Glu) c.1932T>A (p.Asp644Glu) c.2256T>A (p.Asp752Glu) c.2166T>A (p.Asp722Glu) c.2157T>A (p.Asp719Glu) |