Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
3 | g.123291261T>A | CA354223653 | ADCY5 | c.1856A>T (p.Asp619Val) c.2144A>T (p.Asp715Val) n.1582A>T c.3254A>T (p.Asp1085Val) c.3179A>T (p.Asp1060Val) c.2129A>T (p.Asp710Val) c.2153A>T (p.Asp718Val) c.2204A>T (p.Asp735Val) c.1931A>T (p.Asp644Val) c.2255A>T (p.Asp752Val) c.2165A>T (p.Asp722Val) c.2156A>T (p.Asp719Val) | |
3 | g.123291261T>C | CA354223652 | ADCY5 | c.1856A>G (p.Asp619Gly) c.2144A>G (p.Asp715Gly) n.1582A>G c.3254A>G (p.Asp1085Gly) c.3179A>G (p.Asp1060Gly) c.2129A>G (p.Asp710Gly) c.2153A>G (p.Asp718Gly) c.2204A>G (p.Asp735Gly) c.1931A>G (p.Asp644Gly) c.2255A>G (p.Asp752Gly) c.2165A>G (p.Asp722Gly) c.2156A>G (p.Asp719Gly) | gnomAD v4 |
3 | g.123291261T>G | CA354223651 | ADCY5 | c.1856A>C (p.Asp619Ala) c.2144A>C (p.Asp715Ala) n.1582A>C c.3254A>C (p.Asp1085Ala) c.3179A>C (p.Asp1060Ala) c.2129A>C (p.Asp710Ala) c.2153A>C (p.Asp718Ala) c.2204A>C (p.Asp735Ala) c.1931A>C (p.Asp644Ala) c.2255A>C (p.Asp752Ala) c.2165A>C (p.Asp722Ala) c.2156A>C (p.Asp719Ala) | |
3 | g.123291262C>A | CA354223654 | ADCY5 | c.1855G>T (p.Asp619Tyr) c.2143G>T (p.Asp715Tyr) n.1581G>T c.3253G>T (p.Asp1085Tyr) c.3178G>T (p.Asp1060Tyr) c.2128G>T (p.Asp710Tyr) c.2152G>T (p.Asp718Tyr) c.2203G>T (p.Asp735Tyr) c.1930G>T (p.Asp644Tyr) c.2254G>T (p.Asp752Tyr) c.2164G>T (p.Asp722Tyr) c.2155G>T (p.Asp719Tyr) | |
3 | g.123291262C>G | CA354223656 | ADCY5 | c.1855G>C (p.Asp619His) c.2143G>C (p.Asp715His) n.1581G>C c.3253G>C (p.Asp1085His) c.3178G>C (p.Asp1060His) c.2128G>C (p.Asp710His) c.2152G>C (p.Asp718His) c.2203G>C (p.Asp735His) c.1930G>C (p.Asp644His) c.2254G>C (p.Asp752His) c.2164G>C (p.Asp722His) c.2155G>C (p.Asp719His) | |
3 | g.123291262C>T | CA354223655 | ADCY5 | c.1855G>A (p.Asp619Asn) c.2143G>A (p.Asp715Asn) n.1581G>A c.3253G>A (p.Asp1085Asn) c.3178G>A (p.Asp1060Asn) c.2128G>A (p.Asp710Asn) c.2152G>A (p.Asp718Asn) c.2203G>A (p.Asp735Asn) c.1930G>A (p.Asp644Asn) c.2254G>A (p.Asp752Asn) c.2164G>A (p.Asp722Asn) c.2155G>A (p.Asp719Asn) | |
3 | g.123291263A>C | CA354223657 | ADCY5 | c.1854T>G (p.Asn618Lys) c.2142T>G (p.Asn714Lys) n.1580T>G c.3252T>G (p.Asn1084Lys) c.3177T>G (p.Asn1059Lys) c.2127T>G (p.Asn709Lys) c.2151T>G (p.Asn717Lys) c.2202T>G (p.Asn734Lys) c.1929T>G (p.Asn643Lys) c.2253T>G (p.Asn751Lys) c.2163T>G (p.Asn721Lys) c.2154T>G (p.Asn718Lys) | |
3 | g.123291263A>G | CA435431420 | ADCY5 | c.1854T>C (p.Asn618=) c.2142T>C (p.Asn714=) n.1580T>C c.3252T>C (p.Asn1084=) c.3177T>C (p.Asn1059=) c.2127T>C (p.Asn709=) c.2151T>C (p.Asn717=) c.2202T>C (p.Asn734=) c.1929T>C (p.Asn643=) c.2253T>C (p.Asn751=) c.2163T>C (p.Asn721=) c.2154T>C (p.Asn718=) | gnomAD v4 |
3 | g.123291263A>T | CA354223658 | ADCY5 | c.1854T>A (p.Asn618Lys) c.2142T>A (p.Asn714Lys) n.1580T>A c.3252T>A (p.Asn1084Lys) c.3177T>A (p.Asn1059Lys) c.2127T>A (p.Asn709Lys) c.2151T>A (p.Asn717Lys) c.2202T>A (p.Asn734Lys) c.1929T>A (p.Asn643Lys) c.2253T>A (p.Asn751Lys) c.2163T>A (p.Asn721Lys) c.2154T>A (p.Asn718Lys) | |
3 | g.123291264T>A | CA354223659 | ADCY5 | c.1853A>T (p.Asn618Ile) c.2141A>T (p.Asn714Ile) n.1579A>T c.3251A>T (p.Asn1084Ile) c.3176A>T (p.Asn1059Ile) c.2126A>T (p.Asn709Ile) c.2150A>T (p.Asn717Ile) c.2201A>T (p.Asn734Ile) c.1928A>T (p.Asn643Ile) c.2252A>T (p.Asn751Ile) c.2162A>T (p.Asn721Ile) c.2153A>T (p.Asn718Ile) | |
3 | g.123291264T>C | CA2576833 | ADCY5 | c.1853A>G (p.Asn618Ser) c.2141A>G (p.Asn714Ser) n.1579A>G c.3251A>G (p.Asn1084Ser) c.3176A>G (p.Asn1059Ser) c.2126A>G (p.Asn709Ser) c.2150A>G (p.Asn717Ser) c.2201A>G (p.Asn734Ser) c.1928A>G (p.Asn643Ser) c.2252A>G (p.Asn751Ser) c.2162A>G (p.Asn721Ser) c.2153A>G (p.Asn718Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.123291264T>G | CA354223660 | ADCY5 | c.1853A>C (p.Asn618Thr) c.2141A>C (p.Asn714Thr) n.1579A>C c.3251A>C (p.Asn1084Thr) c.3176A>C (p.Asn1059Thr) c.2126A>C (p.Asn709Thr) c.2150A>C (p.Asn717Thr) c.2201A>C (p.Asn734Thr) c.1928A>C (p.Asn643Thr) c.2252A>C (p.Asn751Thr) c.2162A>C (p.Asn721Thr) c.2153A>C (p.Asn718Thr) | |
3 | g.123291264T= | CA1398330414 | ADCY5 | c.1853A= (p.Asn618=) c.2141A= (p.Asn714=) n.1579A= c.3251A= (p.Asn1084=) c.3176A= (p.Asn1059=) c.2126A= (p.Asn709=) c.2150A= (p.Asn717=) c.2201A= (p.Asn734=) c.1928A= (p.Asn643=) c.2252A= (p.Asn751=) c.2162A= (p.Asn721=) c.2153A= (p.Asn718=) | |
3 | g.123291265T>A | CA354223661 | ADCY5 | c.1852A>T (p.Asn618Tyr) c.2140A>T (p.Asn714Tyr) n.1578A>T c.3250A>T (p.Asn1084Tyr) c.3175A>T (p.Asn1059Tyr) c.2125A>T (p.Asn709Tyr) c.2149A>T (p.Asn717Tyr) c.2200A>T (p.Asn734Tyr) c.1927A>T (p.Asn643Tyr) c.2251A>T (p.Asn751Tyr) c.2161A>T (p.Asn721Tyr) c.2152A>T (p.Asn718Tyr) | |
3 | g.123291265T>C | CA354223662 | ADCY5 | c.1852A>G (p.Asn618Asp) c.2140A>G (p.Asn714Asp) n.1578A>G c.3250A>G (p.Asn1084Asp) c.3175A>G (p.Asn1059Asp) c.2125A>G (p.Asn709Asp) c.2149A>G (p.Asn717Asp) c.2200A>G (p.Asn734Asp) c.1927A>G (p.Asn643Asp) c.2251A>G (p.Asn751Asp) c.2161A>G (p.Asn721Asp) c.2152A>G (p.Asn718Asp) | |
3 | g.123291265T>G | CA354223663 | ADCY5 | c.1852A>C (p.Asn618His) c.2140A>C (p.Asn714His) n.1578A>C c.3250A>C (p.Asn1084His) c.3175A>C (p.Asn1059His) c.2125A>C (p.Asn709His) c.2149A>C (p.Asn717His) c.2200A>C (p.Asn734His) c.1927A>C (p.Asn643His) c.2251A>C (p.Asn751His) c.2161A>C (p.Asn721His) c.2152A>C (p.Asn718His) | |
3 | g.123291266G>A | CA435431423 | ADCY5 | c.1851C>T (p.Arg617=) c.2139C>T (p.Arg713=) n.1577C>T c.3249C>T (p.Arg1083=) c.3174C>T (p.Arg1058=) c.2124C>T (p.Arg708=) c.2148C>T (p.Arg716=) c.2199C>T (p.Arg733=) c.1926C>T (p.Arg642=) c.2250C>T (p.Arg750=) c.2160C>T (p.Arg720=) c.2151C>T (p.Arg717=) | |
3 | g.123291266G>C | CA435431425 | ADCY5 | c.1851C>G (p.Arg617=) c.2139C>G (p.Arg713=) n.1577C>G c.3249C>G (p.Arg1083=) c.3174C>G (p.Arg1058=) c.2124C>G (p.Arg708=) c.2148C>G (p.Arg716=) c.2199C>G (p.Arg733=) c.1926C>G (p.Arg642=) c.2250C>G (p.Arg750=) c.2160C>G (p.Arg720=) c.2151C>G (p.Arg717=) | |
3 | g.123291266G>T | CA435431424 | ADCY5 | c.1851C>A (p.Arg617=) c.2139C>A (p.Arg713=) n.1577C>A c.3249C>A (p.Arg1083=) c.3174C>A (p.Arg1058=) c.2124C>A (p.Arg708=) c.2148C>A (p.Arg716=) c.2199C>A (p.Arg733=) c.1926C>A (p.Arg642=) c.2250C>A (p.Arg750=) c.2160C>A (p.Arg720=) c.2151C>A (p.Arg717=) | |
3 | g.123291267C>A | CA354223664 | ADCY5 | c.1850G>T (p.Arg617Leu) c.2138G>T (p.Arg713Leu) n.1576G>T c.3248G>T (p.Arg1083Leu) c.3173G>T (p.Arg1058Leu) c.2123G>T (p.Arg708Leu) c.2147G>T (p.Arg716Leu) c.2198G>T (p.Arg733Leu) c.1925G>T (p.Arg642Leu) c.2249G>T (p.Arg750Leu) c.2159G>T (p.Arg720Leu) c.2150G>T (p.Arg717Leu) | dbSNP gnomAD v4 |
3 | g.123291267C= | CA1398330415 | ADCY5 | c.1850G= (p.Arg617=) c.2138G= (p.Arg713=) n.1576G= c.3248G= (p.Arg1083=) c.3173G= (p.Arg1058=) c.2123G= (p.Arg708=) c.2147G= (p.Arg716=) c.2198G= (p.Arg733=) c.1925G= (p.Arg642=) c.2249G= (p.Arg750=) c.2159G= (p.Arg720=) c.2150G= (p.Arg717=) | |
3 | g.123291267C>G | CA354223665 | ADCY5 | c.1850G>C (p.Arg617Pro) c.2138G>C (p.Arg713Pro) n.1576G>C c.3248G>C (p.Arg1083Pro) c.3173G>C (p.Arg1058Pro) c.2123G>C (p.Arg708Pro) c.2147G>C (p.Arg716Pro) c.2198G>C (p.Arg733Pro) c.1925G>C (p.Arg642Pro) c.2249G>C (p.Arg750Pro) c.2159G>C (p.Arg720Pro) c.2150G>C (p.Arg717Pro) | |
3 | g.123291267C>T | CA2576834 | ADCY5 | c.1850G>A (p.Arg617His) c.2138G>A (p.Arg713His) n.1576G>A c.3248G>A (p.Arg1083His) c.3173G>A (p.Arg1058His) c.2123G>A (p.Arg708His) c.2147G>A (p.Arg716His) c.2198G>A (p.Arg733His) c.1925G>A (p.Arg642His) c.2249G>A (p.Arg750His) c.2159G>A (p.Arg720His) c.2150G>A (p.Arg717His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.123291268G>A | CA2576835 | ADCY5 | c.1849C>T (p.Arg617Cys) c.2137C>T (p.Arg713Cys) n.1575C>T c.3247C>T (p.Arg1083Cys) c.3172C>T (p.Arg1058Cys) c.2122C>T (p.Arg708Cys) c.2146C>T (p.Arg716Cys) c.2197C>T (p.Arg733Cys) c.1924C>T (p.Arg642Cys) c.2248C>T (p.Arg750Cys) c.2158C>T (p.Arg720Cys) c.2149C>T (p.Arg717Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
3 | g.123291268G>C | CA354223667 | ADCY5 | c.1849C>G (p.Arg617Gly) c.2137C>G (p.Arg713Gly) n.1575C>G c.3247C>G (p.Arg1083Gly) c.3172C>G (p.Arg1058Gly) c.2122C>G (p.Arg708Gly) c.2146C>G (p.Arg716Gly) c.2197C>G (p.Arg733Gly) c.1924C>G (p.Arg642Gly) c.2248C>G (p.Arg750Gly) c.2158C>G (p.Arg720Gly) c.2149C>G (p.Arg717Gly) | |
3 | g.123291268G= | CA1398330416 | ADCY5 | c.1849C= (p.Arg617=) c.2137C= (p.Arg713=) n.1575C= c.3247C= (p.Arg1083=) c.3172C= (p.Arg1058=) c.2122C= (p.Arg708=) c.2146C= (p.Arg716=) c.2197C= (p.Arg733=) c.1924C= (p.Arg642=) c.2248C= (p.Arg750=) c.2158C= (p.Arg720=) c.2149C= (p.Arg717=) | |
3 | g.123291268G>T | CA354223666 | ADCY5 | c.1849C>A (p.Arg617Ser) c.2137C>A (p.Arg713Ser) n.1575C>A c.3247C>A (p.Arg1083Ser) c.3172C>A (p.Arg1058Ser) c.2122C>A (p.Arg708Ser) c.2146C>A (p.Arg716Ser) c.2197C>A (p.Arg733Ser) c.1924C>A (p.Arg642Ser) c.2248C>A (p.Arg750Ser) c.2158C>A (p.Arg720Ser) c.2149C>A (p.Arg717Ser) | |
3 | g.123291269C>A | CA435431253 | ADCY5 | c.1848G>T (p.Arg616=) c.2136G>T (p.Arg712=) n.1574G>T c.3246G>T (p.Arg1082=) c.3171G>T (p.Arg1057=) c.2121G>T (p.Arg707=) c.2145G>T (p.Arg715=) c.2196G>T (p.Arg732=) c.1923G>T (p.Arg641=) c.2247G>T (p.Arg749=) c.2157G>T (p.Arg719=) c.2148G>T (p.Arg716=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.123291269C= | CA1398330417 | ADCY5 | c.1848G= (p.Arg616=) c.2136G= (p.Arg712=) n.1574G= c.3246G= (p.Arg1082=) c.3171G= (p.Arg1057=) c.2121G= (p.Arg707=) c.2145G= (p.Arg715=) c.2196G= (p.Arg732=) c.1923G= (p.Arg641=) c.2247G= (p.Arg749=) c.2157G= (p.Arg719=) c.2148G= (p.Arg716=) | |
3 | g.123291269C>G | CA435431254 | ADCY5 | c.1848G>C (p.Arg616=) c.2136G>C (p.Arg712=) n.1574G>C c.3246G>C (p.Arg1082=) c.3171G>C (p.Arg1057=) c.2121G>C (p.Arg707=) c.2145G>C (p.Arg715=) c.2196G>C (p.Arg732=) c.1923G>C (p.Arg641=) c.2247G>C (p.Arg749=) c.2157G>C (p.Arg719=) c.2148G>C (p.Arg716=) | |
3 | g.123291269C>T | CA435431255 | ADCY5 | c.1848G>A (p.Arg616=) c.2136G>A (p.Arg712=) n.1574G>A c.3246G>A (p.Arg1082=) c.3171G>A (p.Arg1057=) c.2121G>A (p.Arg707=) c.2145G>A (p.Arg715=) c.2196G>A (p.Arg732=) c.1923G>A (p.Arg641=) c.2247G>A (p.Arg749=) c.2157G>A (p.Arg719=) c.2148G>A (p.Arg716=) | |
3 | g.123291270C>A | CA354223668 | ADCY5 | c.1847G>T (p.Arg616Leu) c.2135G>T (p.Arg712Leu) n.1573G>T c.3245G>T (p.Arg1082Leu) c.3170G>T (p.Arg1057Leu) c.2120G>T (p.Arg707Leu) c.2144G>T (p.Arg715Leu) c.2195G>T (p.Arg732Leu) c.1922G>T (p.Arg641Leu) c.2246G>T (p.Arg749Leu) c.2156G>T (p.Arg719Leu) c.2147G>T (p.Arg716Leu) | |
3 | g.123291270C= | CA1398330418 | ADCY5 | c.1847G= (p.Arg616=) c.2135G= (p.Arg712=) n.1573G= c.3245G= (p.Arg1082=) c.3170G= (p.Arg1057=) c.2120G= (p.Arg707=) c.2144G= (p.Arg715=) c.2195G= (p.Arg732=) c.1922G= (p.Arg641=) c.2246G= (p.Arg749=) c.2156G= (p.Arg719=) c.2147G= (p.Arg716=) | |
3 | g.123291270C>G | CA354223669 | ADCY5 | c.1847G>C (p.Arg616Pro) c.2135G>C (p.Arg712Pro) n.1573G>C c.3245G>C (p.Arg1082Pro) c.3170G>C (p.Arg1057Pro) c.2120G>C (p.Arg707Pro) c.2144G>C (p.Arg715Pro) c.2195G>C (p.Arg732Pro) c.1922G>C (p.Arg641Pro) c.2246G>C (p.Arg749Pro) c.2156G>C (p.Arg719Pro) c.2147G>C (p.Arg716Pro) | |
3 | g.123291270C>T | CA82904077 | ADCY5 | c.1847G>A (p.Arg616Gln) c.2135G>A (p.Arg712Gln) n.1573G>A c.3245G>A (p.Arg1082Gln) c.3170G>A (p.Arg1057Gln) c.2120G>A (p.Arg707Gln) c.2144G>A (p.Arg715Gln) c.2195G>A (p.Arg732Gln) c.1922G>A (p.Arg641Gln) c.2246G>A (p.Arg749Gln) c.2156G>A (p.Arg719Gln) c.2147G>A (p.Arg716Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.123291271G>A | CA2576836 | ADCY5 | c.1846C>T (p.Arg616Trp) c.2134C>T (p.Arg712Trp) n.1572C>T c.3244C>T (p.Arg1082Trp) c.3169C>T (p.Arg1057Trp) c.2119C>T (p.Arg707Trp) c.2143C>T (p.Arg715Trp) c.2194C>T (p.Arg732Trp) c.1921C>T (p.Arg641Trp) c.2245C>T (p.Arg749Trp) c.2155C>T (p.Arg719Trp) c.2146C>T (p.Arg716Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
3 | g.123291271G>C | CA354223670 | ADCY5 | c.1846C>G (p.Arg616Gly) c.2134C>G (p.Arg712Gly) n.1572C>G c.3244C>G (p.Arg1082Gly) c.3169C>G (p.Arg1057Gly) c.2119C>G (p.Arg707Gly) c.2143C>G (p.Arg715Gly) c.2194C>G (p.Arg732Gly) c.1921C>G (p.Arg641Gly) c.2245C>G (p.Arg749Gly) c.2155C>G (p.Arg719Gly) c.2146C>G (p.Arg716Gly) | |
3 | g.123291271G= | CA1398330419 | ADCY5 | c.1846C= (p.Arg616=) c.2134C= (p.Arg712=) n.1572C= c.3244C= (p.Arg1082=) c.3169C= (p.Arg1057=) c.2119C= (p.Arg707=) c.2143C= (p.Arg715=) c.2194C= (p.Arg732=) c.1921C= (p.Arg641=) c.2245C= (p.Arg749=) c.2155C= (p.Arg719=) c.2146C= (p.Arg716=) | |
3 | g.123291271G>T | CA435431256 | ADCY5 | c.1846C>A (p.Arg616=) c.2134C>A (p.Arg712=) n.1572C>A c.3244C>A (p.Arg1082=) c.3169C>A (p.Arg1057=) c.2119C>A (p.Arg707=) c.2143C>A (p.Arg715=) c.2194C>A (p.Arg732=) c.1921C>A (p.Arg641=) c.2245C>A (p.Arg749=) c.2155C>A (p.Arg719=) c.2146C>A (p.Arg716=) | gnomAD v4 |
3 | g.123291272C>A | CA354223671 | ADCY5 | c.1845G>T (p.Glu615Asp) c.2133G>T (p.Glu711Asp) n.1571G>T c.3243G>T (p.Glu1081Asp) c.3168G>T (p.Glu1056Asp) c.2118G>T (p.Glu706Asp) c.2142G>T (p.Glu714Asp) c.2193G>T (p.Glu731Asp) c.1920G>T (p.Glu640Asp) c.2244G>T (p.Glu748Asp) c.2154G>T (p.Glu718Asp) c.2145G>T (p.Glu715Asp) | gnomAD v4 |
3 | g.123291272C= | CA1398330420 | ADCY5 | c.1845G= (p.Glu615=) c.2133G= (p.Glu711=) n.1571G= c.3243G= (p.Glu1081=) c.3168G= (p.Glu1056=) c.2118G= (p.Glu706=) c.2142G= (p.Glu714=) c.2193G= (p.Glu731=) c.1920G= (p.Glu640=) c.2244G= (p.Glu748=) c.2154G= (p.Glu718=) c.2145G= (p.Glu715=) | |
3 | g.123291272C>G | CA354223672 | ADCY5 | c.1845G>C (p.Glu615Asp) c.2133G>C (p.Glu711Asp) n.1571G>C c.3243G>C (p.Glu1081Asp) c.3168G>C (p.Glu1056Asp) c.2118G>C (p.Glu706Asp) c.2142G>C (p.Glu714Asp) c.2193G>C (p.Glu731Asp) c.1920G>C (p.Glu640Asp) c.2244G>C (p.Glu748Asp) c.2154G>C (p.Glu718Asp) c.2145G>C (p.Glu715Asp) | |
3 | g.123291272C>T | CA82904084 | ADCY5 | c.1845G>A (p.Glu615=) c.2133G>A (p.Glu711=) n.1571G>A c.3243G>A (p.Glu1081=) c.3168G>A (p.Glu1056=) c.2118G>A (p.Glu706=) c.2142G>A (p.Glu714=) c.2193G>A (p.Glu731=) c.1920G>A (p.Glu640=) c.2244G>A (p.Glu748=) c.2154G>A (p.Glu718=) c.2145G>A (p.Glu715=) | dbSNP gnomAD v4 |
3 | g.123291273T>A | CA354223673 | ADCY5 | c.1844A>T (p.Glu615Val) c.2132A>T (p.Glu711Val) n.1570A>T c.3242A>T (p.Glu1081Val) c.3167A>T (p.Glu1056Val) c.2117A>T (p.Glu706Val) c.2141A>T (p.Glu714Val) c.2192A>T (p.Glu731Val) c.1919A>T (p.Glu640Val) c.2243A>T (p.Glu748Val) c.2153A>T (p.Glu718Val) c.2144A>T (p.Glu715Val) | |
3 | g.123291273T>C | CA354223674 | ADCY5 | c.1844A>G (p.Glu615Gly) c.2132A>G (p.Glu711Gly) n.1570A>G c.3242A>G (p.Glu1081Gly) c.3167A>G (p.Glu1056Gly) c.2117A>G (p.Glu706Gly) c.2141A>G (p.Glu714Gly) c.2192A>G (p.Glu731Gly) c.1919A>G (p.Glu640Gly) c.2243A>G (p.Glu748Gly) c.2153A>G (p.Glu718Gly) c.2144A>G (p.Glu715Gly) | |
3 | g.123291273T>G | CA354223675 | ADCY5 | c.1844A>C (p.Glu615Ala) c.2132A>C (p.Glu711Ala) n.1570A>C c.3242A>C (p.Glu1081Ala) c.3167A>C (p.Glu1056Ala) c.2117A>C (p.Glu706Ala) c.2141A>C (p.Glu714Ala) c.2192A>C (p.Glu731Ala) c.1919A>C (p.Glu640Ala) c.2243A>C (p.Glu748Ala) c.2153A>C (p.Glu718Ala) c.2144A>C (p.Glu715Ala) | |
3 | g.123291274C>A | CA354223676 | ADCY5 | c.1843G>T (p.Glu615Ter) c.2131G>T (p.Glu711Ter) n.1569G>T c.3241G>T (p.Glu1081Ter) c.3166G>T (p.Glu1056Ter) c.2116G>T (p.Glu706Ter) c.2140G>T (p.Glu714Ter) c.2191G>T (p.Glu731Ter) c.1918G>T (p.Glu640Ter) c.2242G>T (p.Glu748Ter) c.2152G>T (p.Glu718Ter) c.2143G>T (p.Glu715Ter) | dbSNP gnomAD v4 |
3 | g.123291274C= | CA1398330421 | ADCY5 | c.1843G= (p.Glu615=) c.2131G= (p.Glu711=) n.1569G= c.3241G= (p.Glu1081=) c.3166G= (p.Glu1056=) c.2116G= (p.Glu706=) c.2140G= (p.Glu714=) c.2191G= (p.Glu731=) c.1918G= (p.Glu640=) c.2242G= (p.Glu748=) c.2152G= (p.Glu718=) c.2143G= (p.Glu715=) | |
3 | g.123291274C>G | CA354223677 | ADCY5 | c.1843G>C (p.Glu615Gln) c.2131G>C (p.Glu711Gln) n.1569G>C c.3241G>C (p.Glu1081Gln) c.3166G>C (p.Glu1056Gln) c.2116G>C (p.Glu706Gln) c.2140G>C (p.Glu714Gln) c.2191G>C (p.Glu731Gln) c.1918G>C (p.Glu640Gln) c.2242G>C (p.Glu748Gln) c.2152G>C (p.Glu718Gln) c.2143G>C (p.Glu715Gln) | |
3 | g.123291274C>T | CA354223678 | ADCY5 | c.1843G>A (p.Glu615Lys) c.2131G>A (p.Glu711Lys) n.1569G>A c.3241G>A (p.Glu1081Lys) c.3166G>A (p.Glu1056Lys) c.2116G>A (p.Glu706Lys) c.2140G>A (p.Glu714Lys) c.2191G>A (p.Glu731Lys) c.1918G>A (p.Glu640Lys) c.2242G>A (p.Glu748Lys) c.2152G>A (p.Glu718Lys) c.2143G>A (p.Glu715Lys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
3 | g.123291275G>A | CA2576837 | ADCY5 | c.1842C>T (p.Arg614=) c.2130C>T (p.Arg710=) n.1568C>T c.3240C>T (p.Arg1080=) c.3165C>T (p.Arg1055=) c.2115C>T (p.Arg705=) c.2139C>T (p.Arg713=) c.2190C>T (p.Arg730=) c.1917C>T (p.Arg639=) c.2241C>T (p.Arg747=) c.2151C>T (p.Arg717=) c.2142C>T (p.Arg714=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.123291275G>C | CA435431258 | ADCY5 | c.1842C>G (p.Arg614=) c.2130C>G (p.Arg710=) n.1568C>G c.3240C>G (p.Arg1080=) c.3165C>G (p.Arg1055=) c.2115C>G (p.Arg705=) c.2139C>G (p.Arg713=) c.2190C>G (p.Arg730=) c.1917C>G (p.Arg639=) c.2241C>G (p.Arg747=) c.2151C>G (p.Arg717=) c.2142C>G (p.Arg714=) | |
3 | g.123291275G= | CA1398330422 | ADCY5 | c.1842C= (p.Arg614=) c.2130C= (p.Arg710=) n.1568C= c.3240C= (p.Arg1080=) c.3165C= (p.Arg1055=) c.2115C= (p.Arg705=) c.2139C= (p.Arg713=) c.2190C= (p.Arg730=) c.1917C= (p.Arg639=) c.2241C= (p.Arg747=) c.2151C= (p.Arg717=) c.2142C= (p.Arg714=) | |
3 | g.123291275G>T | CA435431257 | ADCY5 | c.1842C>A (p.Arg614=) c.2130C>A (p.Arg710=) n.1568C>A c.3240C>A (p.Arg1080=) c.3165C>A (p.Arg1055=) c.2115C>A (p.Arg705=) c.2139C>A (p.Arg713=) c.2190C>A (p.Arg730=) c.1917C>A (p.Arg639=) c.2241C>A (p.Arg747=) c.2151C>A (p.Arg717=) c.2142C>A (p.Arg714=) | |
3 | g.123291276del | CA2703963957 | ADCY5 | c.1841del (p.Arg614ProfsTer?) c.2129del (p.Arg710ProfsTer?) n.1567del c.3239del (p.Arg1080ProfsTer?) c.3164del (p.Arg1055ProfsTer?) c.2114del (p.Arg705ProfsTer?) c.2138del (p.Arg713ProfsTer?) c.2189del (p.Arg730ProfsTer?) c.1916del (p.Arg639ProfsTer?) c.2240del (p.Arg747ProfsTer?) c.2150del (p.Arg717ProfsTer?) c.2141del (p.Arg714ProfsTer?) | dbSNP |
3 | g.123291276C>A | CA354223680 | ADCY5 | c.1841G>T (p.Arg614Leu) c.2129G>T (p.Arg710Leu) n.1567G>T c.3239G>T (p.Arg1080Leu) c.3164G>T (p.Arg1055Leu) c.2114G>T (p.Arg705Leu) c.2138G>T (p.Arg713Leu) c.2189G>T (p.Arg730Leu) c.1916G>T (p.Arg639Leu) c.2240G>T (p.Arg747Leu) c.2150G>T (p.Arg717Leu) c.2141G>T (p.Arg714Leu) | gnomAD v4 |
3 | g.123291276C= | CA1398330423 | ADCY5 | c.1841G= (p.Arg614=) c.2129G= (p.Arg710=) n.1567G= c.3239G= (p.Arg1080=) c.3164G= (p.Arg1055=) c.2114G= (p.Arg705=) c.2138G= (p.Arg713=) c.2189G= (p.Arg730=) c.1916G= (p.Arg639=) c.2240G= (p.Arg747=) c.2150G= (p.Arg717=) c.2141G= (p.Arg714=) | |
3 | g.123291276C>G | CA354223679 | ADCY5 | c.1841G>C (p.Arg614Pro) c.2129G>C (p.Arg710Pro) n.1567G>C c.3239G>C (p.Arg1080Pro) c.3164G>C (p.Arg1055Pro) c.2114G>C (p.Arg705Pro) c.2138G>C (p.Arg713Pro) c.2189G>C (p.Arg730Pro) c.1916G>C (p.Arg639Pro) c.2240G>C (p.Arg747Pro) c.2150G>C (p.Arg717Pro) c.2141G>C (p.Arg714Pro) | |
3 | g.123291276C>T | CA2576838 | ADCY5 | c.1841G>A (p.Arg614His) c.2129G>A (p.Arg710His) n.1567G>A c.3239G>A (p.Arg1080His) c.3164G>A (p.Arg1055His) c.2114G>A (p.Arg705His) c.2138G>A (p.Arg713His) c.2189G>A (p.Arg730His) c.1916G>A (p.Arg639His) c.2240G>A (p.Arg747His) c.2150G>A (p.Arg717His) c.2141G>A (p.Arg714His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.123291277G>A | CA2576839 | ADCY5 | c.1840C>T (p.Arg614Cys) c.2128C>T (p.Arg710Cys) n.1566C>T c.3238C>T (p.Arg1080Cys) c.3163C>T (p.Arg1055Cys) c.2113C>T (p.Arg705Cys) c.2137C>T (p.Arg713Cys) c.2188C>T (p.Arg730Cys) c.1915C>T (p.Arg639Cys) c.2239C>T (p.Arg747Cys) c.2149C>T (p.Arg717Cys) c.2140C>T (p.Arg714Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.123291277G>C | CA354223681 | ADCY5 | c.1840C>G (p.Arg614Gly) c.2128C>G (p.Arg710Gly) n.1566C>G c.3238C>G (p.Arg1080Gly) c.3163C>G (p.Arg1055Gly) c.2113C>G (p.Arg705Gly) c.2137C>G (p.Arg713Gly) c.2188C>G (p.Arg730Gly) c.1915C>G (p.Arg639Gly) c.2239C>G (p.Arg747Gly) c.2149C>G (p.Arg717Gly) c.2140C>G (p.Arg714Gly) | |
3 | g.123291277G= | CA1398330424 | ADCY5 | c.1840C= (p.Arg614=) c.2128C= (p.Arg710=) n.1566C= c.3238C= (p.Arg1080=) c.3163C= (p.Arg1055=) c.2113C= (p.Arg705=) c.2137C= (p.Arg713=) c.2188C= (p.Arg730=) c.1915C= (p.Arg639=) c.2239C= (p.Arg747=) c.2149C= (p.Arg717=) c.2140C= (p.Arg714=) | |
3 | g.123291277G>T | CA2576840 | ADCY5 | c.1840C>A (p.Arg614Ser) c.2128C>A (p.Arg710Ser) n.1566C>A c.3238C>A (p.Arg1080Ser) c.3163C>A (p.Arg1055Ser) c.2113C>A (p.Arg705Ser) c.2137C>A (p.Arg713Ser) c.2188C>A (p.Arg730Ser) c.1915C>A (p.Arg639Ser) c.2239C>A (p.Arg747Ser) c.2149C>A (p.Arg717Ser) c.2140C>A (p.Arg714Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.123291278G>A | CA435431259 | ADCY5 | c.1839C>T (p.Ala613=) c.2127C>T (p.Ala709=) n.1565C>T c.3237C>T (p.Ala1079=) c.3162C>T (p.Ala1054=) c.2112C>T (p.Ala704=) c.2136C>T (p.Ala712=) c.2187C>T (p.Ala729=) c.1914C>T (p.Ala638=) c.2238C>T (p.Ala746=) c.2148C>T (p.Ala716=) c.2139C>T (p.Ala713=) | gnomAD v4 |
3 | g.123291278G>C | CA435431260 | ADCY5 | c.1839C>G (p.Ala613=) c.2127C>G (p.Ala709=) n.1565C>G c.3237C>G (p.Ala1079=) c.3162C>G (p.Ala1054=) c.2112C>G (p.Ala704=) c.2136C>G (p.Ala712=) c.2187C>G (p.Ala729=) c.1914C>G (p.Ala638=) c.2238C>G (p.Ala746=) c.2148C>G (p.Ala716=) c.2139C>G (p.Ala713=) | |
3 | g.123291278G>T | CA435431261 | ADCY5 | c.1839C>A (p.Ala613=) c.2127C>A (p.Ala709=) n.1565C>A c.3237C>A (p.Ala1079=) c.3162C>A (p.Ala1054=) c.2112C>A (p.Ala704=) c.2136C>A (p.Ala712=) c.2187C>A (p.Ala729=) c.1914C>A (p.Ala638=) c.2238C>A (p.Ala746=) c.2148C>A (p.Ala716=) c.2139C>A (p.Ala713=) | |
3 | g.123291279G>A | CA354223682 | ADCY5 | c.1838C>T (p.Ala613Val) c.2126C>T (p.Ala709Val) n.1564C>T c.3236C>T (p.Ala1079Val) c.3161C>T (p.Ala1054Val) c.2111C>T (p.Ala704Val) c.2135C>T (p.Ala712Val) c.2186C>T (p.Ala729Val) c.1913C>T (p.Ala638Val) c.2237C>T (p.Ala746Val) c.2147C>T (p.Ala716Val) c.2138C>T (p.Ala713Val) | gnomAD v4 |
3 | g.123291279G>C | CA354223683 | ADCY5 | c.1838C>G (p.Ala613Gly) c.2126C>G (p.Ala709Gly) n.1564C>G c.3236C>G (p.Ala1079Gly) c.3161C>G (p.Ala1054Gly) c.2111C>G (p.Ala704Gly) c.2135C>G (p.Ala712Gly) c.2186C>G (p.Ala729Gly) c.1913C>G (p.Ala638Gly) c.2237C>G (p.Ala746Gly) c.2147C>G (p.Ala716Gly) c.2138C>G (p.Ala713Gly) | |
3 | g.123291279G>T | CA354223684 | ADCY5 | c.1838C>A (p.Ala613Asp) c.2126C>A (p.Ala709Asp) n.1564C>A c.3236C>A (p.Ala1079Asp) c.3161C>A (p.Ala1054Asp) c.2111C>A (p.Ala704Asp) c.2135C>A (p.Ala712Asp) c.2186C>A (p.Ala729Asp) c.1913C>A (p.Ala638Asp) c.2237C>A (p.Ala746Asp) c.2147C>A (p.Ala716Asp) c.2138C>A (p.Ala713Asp) | |
3 | g.123291280C>A | CA354223685 | ADCY5 | c.1837G>T (p.Ala613Ser) c.2125G>T (p.Ala709Ser) n.1563G>T c.3235G>T (p.Ala1079Ser) c.3160G>T (p.Ala1054Ser) c.2110G>T (p.Ala704Ser) c.2134G>T (p.Ala712Ser) c.2185G>T (p.Ala729Ser) c.1912G>T (p.Ala638Ser) c.2236G>T (p.Ala746Ser) c.2146G>T (p.Ala716Ser) c.2137G>T (p.Ala713Ser) | |
3 | g.123291280C>G | CA354223686 | ADCY5 | c.1837G>C (p.Ala613Pro) c.2125G>C (p.Ala709Pro) n.1563G>C c.3235G>C (p.Ala1079Pro) c.3160G>C (p.Ala1054Pro) c.2110G>C (p.Ala704Pro) c.2134G>C (p.Ala712Pro) c.2185G>C (p.Ala729Pro) c.1912G>C (p.Ala638Pro) c.2236G>C (p.Ala746Pro) c.2146G>C (p.Ala716Pro) c.2137G>C (p.Ala713Pro) | |
3 | g.123291280C>T | CA354223687 | ADCY5 | c.1837G>A (p.Ala613Thr) c.2125G>A (p.Ala709Thr) n.1563G>A c.3235G>A (p.Ala1079Thr) c.3160G>A (p.Ala1054Thr) c.2110G>A (p.Ala704Thr) c.2134G>A (p.Ala712Thr) c.2185G>A (p.Ala729Thr) c.1912G>A (p.Ala638Thr) c.2236G>A (p.Ala746Thr) c.2146G>A (p.Ala716Thr) c.2137G>A (p.Ala713Thr) | COSMIC |
3 | g.123291281C>A | CA435431262 | ADCY5 | c.1836G>T (p.Leu612=) c.2124G>T (p.Leu708=) n.1562G>T c.3234G>T (p.Leu1078=) c.3159G>T (p.Leu1053=) c.2109G>T (p.Leu703=) c.2133G>T (p.Leu711=) c.2184G>T (p.Leu728=) c.1911G>T (p.Leu637=) c.2235G>T (p.Leu745=) c.2145G>T (p.Leu715=) c.2136G>T (p.Leu712=) | |
3 | g.123291281C= | CA1398330425 | ADCY5 | c.1836G= (p.Leu612=) c.2124G= (p.Leu708=) n.1562G= c.3234G= (p.Leu1078=) c.3159G= (p.Leu1053=) c.2109G= (p.Leu703=) c.2133G= (p.Leu711=) c.2184G= (p.Leu728=) c.1911G= (p.Leu637=) c.2235G= (p.Leu745=) c.2145G= (p.Leu715=) c.2136G= (p.Leu712=) | |
3 | g.123291281C>G | CA2576841 | ADCY5 | c.1836G>C (p.Leu612=) c.2124G>C (p.Leu708=) n.1562G>C c.3234G>C (p.Leu1078=) c.3159G>C (p.Leu1053=) c.2109G>C (p.Leu703=) c.2133G>C (p.Leu711=) c.2184G>C (p.Leu728=) c.1911G>C (p.Leu637=) c.2235G>C (p.Leu745=) c.2145G>C (p.Leu715=) c.2136G>C (p.Leu712=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.123291281C>T | CA435431263 | ADCY5 | c.1836G>A (p.Leu612=) c.2124G>A (p.Leu708=) n.1562G>A c.3234G>A (p.Leu1078=) c.3159G>A (p.Leu1053=) c.2109G>A (p.Leu703=) c.2133G>A (p.Leu711=) c.2184G>A (p.Leu728=) c.1911G>A (p.Leu637=) c.2235G>A (p.Leu745=) c.2145G>A (p.Leu715=) c.2136G>A (p.Leu712=) | |
3 | g.123291282A>C | CA354223690 | ADCY5 | c.1835T>G (p.Leu612Arg) c.2123T>G (p.Leu708Arg) n.1561T>G c.3233T>G (p.Leu1078Arg) c.3158T>G (p.Leu1053Arg) c.2108T>G (p.Leu703Arg) c.2132T>G (p.Leu711Arg) c.2183T>G (p.Leu728Arg) c.1910T>G (p.Leu637Arg) c.2234T>G (p.Leu745Arg) c.2144T>G (p.Leu715Arg) c.2135T>G (p.Leu712Arg) | |
3 | g.123291282A>G | CA354223689 | ADCY5 | c.1835T>C (p.Leu612Pro) c.2123T>C (p.Leu708Pro) n.1561T>C c.3233T>C (p.Leu1078Pro) c.3158T>C (p.Leu1053Pro) c.2108T>C (p.Leu703Pro) c.2132T>C (p.Leu711Pro) c.2183T>C (p.Leu728Pro) c.1910T>C (p.Leu637Pro) c.2234T>C (p.Leu745Pro) c.2144T>C (p.Leu715Pro) c.2135T>C (p.Leu712Pro) | gnomAD v4 |
3 | g.123291282A>T | CA354223688 | ADCY5 | c.1835T>A (p.Leu612Gln) c.2123T>A (p.Leu708Gln) n.1561T>A c.3233T>A (p.Leu1078Gln) c.3158T>A (p.Leu1053Gln) c.2108T>A (p.Leu703Gln) c.2132T>A (p.Leu711Gln) c.2183T>A (p.Leu728Gln) c.1910T>A (p.Leu637Gln) c.2234T>A (p.Leu745Gln) c.2144T>A (p.Leu715Gln) c.2135T>A (p.Leu712Gln) | |
3 | g.123291283G>A | CA435431264 | ADCY5 | c.1834C>T (p.Leu612=) c.2122C>T (p.Leu708=) n.1560C>T c.3232C>T (p.Leu1078=) c.3157C>T (p.Leu1053=) c.2107C>T (p.Leu703=) c.2131C>T (p.Leu711=) c.2182C>T (p.Leu728=) c.1909C>T (p.Leu637=) c.2233C>T (p.Leu745=) c.2143C>T (p.Leu715=) c.2134C>T (p.Leu712=) | |
3 | g.123291283G>C | CA354223691 | ADCY5 | c.1834C>G (p.Leu612Val) c.2122C>G (p.Leu708Val) n.1560C>G c.3232C>G (p.Leu1078Val) c.3157C>G (p.Leu1053Val) c.2107C>G (p.Leu703Val) c.2131C>G (p.Leu711Val) c.2182C>G (p.Leu728Val) c.1909C>G (p.Leu637Val) c.2233C>G (p.Leu745Val) c.2143C>G (p.Leu715Val) c.2134C>G (p.Leu712Val) | |
3 | g.123291283G>T | CA354223692 | ADCY5 | c.1834C>A (p.Leu612Met) c.2122C>A (p.Leu708Met) n.1560C>A c.3232C>A (p.Leu1078Met) c.3157C>A (p.Leu1053Met) c.2107C>A (p.Leu703Met) c.2131C>A (p.Leu711Met) c.2182C>A (p.Leu728Met) c.1909C>A (p.Leu637Met) c.2233C>A (p.Leu745Met) c.2143C>A (p.Leu715Met) c.2134C>A (p.Leu712Met) | |
3 | g.123291284del | CA2667290335 | ADCY5 | c.1834del (p.Leu612TrpfsTer?) c.2122del (p.Leu708TrpfsTer?) n.1560del c.3232del (p.Leu1078TrpfsTer?) c.3157del (p.Leu1053TrpfsTer?) c.2107del (p.Leu703TrpfsTer?) c.2131del (p.Leu711TrpfsTer?) c.2182del (p.Leu728TrpfsTer?) c.1909del (p.Leu637TrpfsTer?) c.2233del (p.Leu745TrpfsTer?) c.2143del (p.Leu715TrpfsTer?) c.2134del (p.Leu712TrpfsTer?) | gnomAD v4 |
3 | g.123291284G>A | CA435431265 | ADCY5 | c.1833C>T (p.Phe611=) c.2121C>T (p.Phe707=) n.1559C>T c.3231C>T (p.Phe1077=) c.3156C>T (p.Phe1052=) c.2106C>T (p.Phe702=) c.2130C>T (p.Phe710=) c.2181C>T (p.Phe727=) c.1908C>T (p.Phe636=) c.2232C>T (p.Phe744=) c.2142C>T (p.Phe714=) c.2133C>T (p.Phe711=) | COSMIC |
3 | g.123291284G>C | CA354223693 | ADCY5 | c.1833C>G (p.Phe611Leu) c.2121C>G (p.Phe707Leu) n.1559C>G c.3231C>G (p.Phe1077Leu) c.3156C>G (p.Phe1052Leu) c.2106C>G (p.Phe702Leu) c.2130C>G (p.Phe710Leu) c.2181C>G (p.Phe727Leu) c.1908C>G (p.Phe636Leu) c.2232C>G (p.Phe744Leu) c.2142C>G (p.Phe714Leu) c.2133C>G (p.Phe711Leu) | |
3 | g.123291284G>T | CA354223694 | ADCY5 | c.1833C>A (p.Phe611Leu) c.2121C>A (p.Phe707Leu) n.1559C>A c.3231C>A (p.Phe1077Leu) c.3156C>A (p.Phe1052Leu) c.2106C>A (p.Phe702Leu) c.2130C>A (p.Phe710Leu) c.2181C>A (p.Phe727Leu) c.1908C>A (p.Phe636Leu) c.2232C>A (p.Phe744Leu) c.2142C>A (p.Phe714Leu) c.2133C>A (p.Phe711Leu) | |
3 | g.123291285A>C | CA354223695 | ADCY5 | c.1832T>G (p.Phe611Cys) c.2120T>G (p.Phe707Cys) n.1558T>G c.3230T>G (p.Phe1077Cys) c.3155T>G (p.Phe1052Cys) c.2105T>G (p.Phe702Cys) c.2129T>G (p.Phe710Cys) c.2180T>G (p.Phe727Cys) c.1907T>G (p.Phe636Cys) c.2231T>G (p.Phe744Cys) c.2141T>G (p.Phe714Cys) c.2132T>G (p.Phe711Cys) | |
3 | g.123291285A>G | CA354223696 | ADCY5 | c.1832T>C (p.Phe611Ser) c.2120T>C (p.Phe707Ser) n.1558T>C c.3230T>C (p.Phe1077Ser) c.3155T>C (p.Phe1052Ser) c.2105T>C (p.Phe702Ser) c.2129T>C (p.Phe710Ser) c.2180T>C (p.Phe727Ser) c.1907T>C (p.Phe636Ser) c.2231T>C (p.Phe744Ser) c.2141T>C (p.Phe714Ser) c.2132T>C (p.Phe711Ser) | |
3 | g.123291285A>T | CA354223697 | ADCY5 | c.1832T>A (p.Phe611Tyr) c.2120T>A (p.Phe707Tyr) n.1558T>A c.3230T>A (p.Phe1077Tyr) c.3155T>A (p.Phe1052Tyr) c.2105T>A (p.Phe702Tyr) c.2129T>A (p.Phe710Tyr) c.2180T>A (p.Phe727Tyr) c.1907T>A (p.Phe636Tyr) c.2231T>A (p.Phe744Tyr) c.2141T>A (p.Phe714Tyr) c.2132T>A (p.Phe711Tyr) | |
3 | g.123291286A>C | CA354223698 | ADCY5 | c.1831T>G (p.Phe611Val) c.2119T>G (p.Phe707Val) n.1557T>G c.3229T>G (p.Phe1077Val) c.3154T>G (p.Phe1052Val) c.2104T>G (p.Phe702Val) c.2128T>G (p.Phe710Val) c.2179T>G (p.Phe727Val) c.1906T>G (p.Phe636Val) c.2230T>G (p.Phe744Val) c.2140T>G (p.Phe714Val) c.2131T>G (p.Phe711Val) | |
3 | g.123291286A>G | CA354223699 | ADCY5 | c.1831T>C (p.Phe611Leu) c.2119T>C (p.Phe707Leu) n.1557T>C c.3229T>C (p.Phe1077Leu) c.3154T>C (p.Phe1052Leu) c.2104T>C (p.Phe702Leu) c.2128T>C (p.Phe710Leu) c.2179T>C (p.Phe727Leu) c.1906T>C (p.Phe636Leu) c.2230T>C (p.Phe744Leu) c.2140T>C (p.Phe714Leu) c.2131T>C (p.Phe711Leu) | |
3 | g.123291286A>T | CA354223700 | ADCY5 | c.1831T>A (p.Phe611Ile) c.2119T>A (p.Phe707Ile) n.1557T>A c.3229T>A (p.Phe1077Ile) c.3154T>A (p.Phe1052Ile) c.2104T>A (p.Phe702Ile) c.2128T>A (p.Phe710Ile) c.2179T>A (p.Phe727Ile) c.1906T>A (p.Phe636Ile) c.2230T>A (p.Phe744Ile) c.2140T>A (p.Phe714Ile) c.2131T>A (p.Phe711Ile) | |
3 | g.123291287G>A | CA435431266 | ADCY5 | c.1830C>T (p.His610=) c.2118C>T (p.His706=) n.1556C>T c.3228C>T (p.His1076=) c.3153C>T (p.His1051=) c.2103C>T (p.His701=) c.2127C>T (p.His709=) c.2178C>T (p.His726=) c.1905C>T (p.His635=) c.2229C>T (p.His743=) c.2139C>T (p.His713=) c.2130C>T (p.His710=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.123291287G>C | CA354223701 | ADCY5 | c.1830C>G (p.His610Gln) c.2118C>G (p.His706Gln) n.1556C>G c.3228C>G (p.His1076Gln) c.3153C>G (p.His1051Gln) c.2103C>G (p.His701Gln) c.2127C>G (p.His709Gln) c.2178C>G (p.His726Gln) c.1905C>G (p.His635Gln) c.2229C>G (p.His743Gln) c.2139C>G (p.His713Gln) c.2130C>G (p.His710Gln) | |
3 | g.123291287G= | CA1398330426 | ADCY5 | c.1830C= (p.His610=) c.2118C= (p.His706=) n.1556C= c.3228C= (p.His1076=) c.3153C= (p.His1051=) c.2103C= (p.His701=) c.2127C= (p.His709=) c.2178C= (p.His726=) c.1905C= (p.His635=) c.2229C= (p.His743=) c.2139C= (p.His713=) c.2130C= (p.His710=) | |
3 | g.123291287G>T | CA354223702 | ADCY5 | c.1830C>A (p.His610Gln) c.2118C>A (p.His706Gln) n.1556C>A c.3228C>A (p.His1076Gln) c.3153C>A (p.His1051Gln) c.2103C>A (p.His701Gln) c.2127C>A (p.His709Gln) c.2178C>A (p.His726Gln) c.1905C>A (p.His635Gln) c.2229C>A (p.His743Gln) c.2139C>A (p.His713Gln) c.2130C>A (p.His710Gln) | |
3 | g.123291288T>A | CA354223705 | ADCY5 | c.1829A>T (p.His610Leu) c.2117A>T (p.His706Leu) n.1555A>T c.3227A>T (p.His1076Leu) c.3152A>T (p.His1051Leu) c.2102A>T (p.His701Leu) c.2126A>T (p.His709Leu) c.2177A>T (p.His726Leu) c.1904A>T (p.His635Leu) c.2228A>T (p.His743Leu) c.2138A>T (p.His713Leu) c.2129A>T (p.His710Leu) | |
3 | g.123291288T>C | CA354223704 | ADCY5 | c.1829A>G (p.His610Arg) c.2117A>G (p.His706Arg) n.1555A>G c.3227A>G (p.His1076Arg) c.3152A>G (p.His1051Arg) c.2102A>G (p.His701Arg) c.2126A>G (p.His709Arg) c.2177A>G (p.His726Arg) c.1904A>G (p.His635Arg) c.2228A>G (p.His743Arg) c.2138A>G (p.His713Arg) c.2129A>G (p.His710Arg) | |
3 | g.123291288T>G | CA354223703 | ADCY5 | c.1829A>C (p.His610Pro) c.2117A>C (p.His706Pro) n.1555A>C c.3227A>C (p.His1076Pro) c.3152A>C (p.His1051Pro) c.2102A>C (p.His701Pro) c.2126A>C (p.His709Pro) c.2177A>C (p.His726Pro) c.1904A>C (p.His635Pro) c.2228A>C (p.His743Pro) c.2138A>C (p.His713Pro) c.2129A>C (p.His710Pro) | |
3 | g.123291289G>A | CA354223706 | ADCY5 | c.1828C>T (p.His610Tyr) c.2116C>T (p.His706Tyr) n.1554C>T c.3226C>T (p.His1076Tyr) c.3151C>T (p.His1051Tyr) c.2101C>T (p.His701Tyr) c.2125C>T (p.His709Tyr) c.2176C>T (p.His726Tyr) c.1903C>T (p.His635Tyr) c.2227C>T (p.His743Tyr) c.2137C>T (p.His713Tyr) c.2128C>T (p.His710Tyr) | gnomAD v4 |
3 | g.123291289G>C | CA354223708 | ADCY5 | c.1828C>G (p.His610Asp) c.2116C>G (p.His706Asp) n.1554C>G c.3226C>G (p.His1076Asp) c.3151C>G (p.His1051Asp) c.2101C>G (p.His701Asp) c.2125C>G (p.His709Asp) c.2176C>G (p.His726Asp) c.1903C>G (p.His635Asp) c.2227C>G (p.His743Asp) c.2137C>G (p.His713Asp) c.2128C>G (p.His710Asp) | |
3 | g.123291289G>T | CA354223707 | ADCY5 | c.1828C>A (p.His610Asn) c.2116C>A (p.His706Asn) n.1554C>A c.3226C>A (p.His1076Asn) c.3151C>A (p.His1051Asn) c.2101C>A (p.His701Asn) c.2125C>A (p.His709Asn) c.2176C>A (p.His726Asn) c.1903C>A (p.His635Asn) c.2227C>A (p.His743Asn) c.2137C>A (p.His713Asn) c.2128C>A (p.His710Asn) | |
3 | g.123291290A>C | CA435431269 | ADCY5 | c.1827T>G (p.Ala609=) c.2115T>G (p.Ala705=) n.1553T>G c.3225T>G (p.Ala1075=) c.3150T>G (p.Ala1050=) c.2100T>G (p.Ala700=) c.2124T>G (p.Ala708=) c.2175T>G (p.Ala725=) c.1902T>G (p.Ala634=) c.2226T>G (p.Ala742=) c.2136T>G (p.Ala712=) c.2127T>G (p.Ala709=) | |
3 | g.123291290A>G | CA435431268 | ADCY5 | c.1827T>C (p.Ala609=) c.2115T>C (p.Ala705=) n.1553T>C c.3225T>C (p.Ala1075=) c.3150T>C (p.Ala1050=) c.2100T>C (p.Ala700=) c.2124T>C (p.Ala708=) c.2175T>C (p.Ala725=) c.1902T>C (p.Ala634=) c.2226T>C (p.Ala742=) c.2136T>C (p.Ala712=) c.2127T>C (p.Ala709=) | |
3 | g.123291290A>T | CA435431267 | ADCY5 | c.1827T>A (p.Ala609=) c.2115T>A (p.Ala705=) n.1553T>A c.3225T>A (p.Ala1075=) c.3150T>A (p.Ala1050=) c.2100T>A (p.Ala700=) c.2124T>A (p.Ala708=) c.2175T>A (p.Ala725=) c.1902T>A (p.Ala634=) c.2226T>A (p.Ala742=) c.2136T>A (p.Ala712=) c.2127T>A (p.Ala709=) | |
3 | g.123291291G>A | CA354223709 | ADCY5 | c.1826C>T (p.Ala609Val) c.2114C>T (p.Ala705Val) n.1552C>T c.3224C>T (p.Ala1075Val) c.3149C>T (p.Ala1050Val) c.2099C>T (p.Ala700Val) c.2123C>T (p.Ala708Val) c.2174C>T (p.Ala725Val) c.1901C>T (p.Ala634Val) c.2225C>T (p.Ala742Val) c.2135C>T (p.Ala712Val) c.2126C>T (p.Ala709Val) | |
3 | g.123291291G>C | CA354223711 | ADCY5 | c.1826C>G (p.Ala609Gly) c.2114C>G (p.Ala705Gly) n.1552C>G c.3224C>G (p.Ala1075Gly) c.3149C>G (p.Ala1050Gly) c.2099C>G (p.Ala700Gly) c.2123C>G (p.Ala708Gly) c.2174C>G (p.Ala725Gly) c.1901C>G (p.Ala634Gly) c.2225C>G (p.Ala742Gly) c.2135C>G (p.Ala712Gly) c.2126C>G (p.Ala709Gly) | |
3 | g.123291291G>T | CA354223710 | ADCY5 | c.1826C>A (p.Ala609Asp) c.2114C>A (p.Ala705Asp) n.1552C>A c.3224C>A (p.Ala1075Asp) c.3149C>A (p.Ala1050Asp) c.2099C>A (p.Ala700Asp) c.2123C>A (p.Ala708Asp) c.2174C>A (p.Ala725Asp) c.1901C>A (p.Ala634Asp) c.2225C>A (p.Ala742Asp) c.2135C>A (p.Ala712Asp) c.2126C>A (p.Ala709Asp) | |
3 | g.123291292C>A | CA354223712 | ADCY5 | c.1825G>T (p.Ala609Ser) c.2113G>T (p.Ala705Ser) n.1551G>T c.3223G>T (p.Ala1075Ser) c.3148G>T (p.Ala1050Ser) c.2098G>T (p.Ala700Ser) c.2122G>T (p.Ala708Ser) c.2173G>T (p.Ala725Ser) c.1900G>T (p.Ala634Ser) c.2224G>T (p.Ala742Ser) c.2134G>T (p.Ala712Ser) c.2125G>T (p.Ala709Ser) | |
3 | g.123291292C= | CA1398330427 | ADCY5 | c.1825G= (p.Ala609=) c.2113G= (p.Ala705=) n.1551G= c.3223G= (p.Ala1075=) c.3148G= (p.Ala1050=) c.2098G= (p.Ala700=) c.2122G= (p.Ala708=) c.2173G= (p.Ala725=) c.1900G= (p.Ala634=) c.2224G= (p.Ala742=) c.2134G= (p.Ala712=) c.2125G= (p.Ala709=) | |
3 | g.123291292C>G | CA354223713 | ADCY5 | c.1825G>C (p.Ala609Pro) c.2113G>C (p.Ala705Pro) n.1551G>C c.3223G>C (p.Ala1075Pro) c.3148G>C (p.Ala1050Pro) c.2098G>C (p.Ala700Pro) c.2122G>C (p.Ala708Pro) c.2173G>C (p.Ala725Pro) c.1900G>C (p.Ala634Pro) c.2224G>C (p.Ala742Pro) c.2134G>C (p.Ala712Pro) c.2125G>C (p.Ala709Pro) | |
3 | g.123291292C>T | CA2576842 | ADCY5 | c.1825G>A (p.Ala609Thr) c.2113G>A (p.Ala705Thr) n.1551G>A c.3223G>A (p.Ala1075Thr) c.3148G>A (p.Ala1050Thr) c.2098G>A (p.Ala700Thr) c.2122G>A (p.Ala708Thr) c.2173G>A (p.Ala725Thr) c.1900G>A (p.Ala634Thr) c.2224G>A (p.Ala742Thr) c.2134G>A (p.Ala712Thr) c.2125G>A (p.Ala709Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.123291293G>A | CA2576843 | ADCY5 | c.1824C>T (p.Ala608=) c.2112C>T (p.Ala704=) n.1550C>T c.3222C>T (p.Ala1074=) c.3147C>T (p.Ala1049=) c.2097C>T (p.Ala699=) c.2121C>T (p.Ala707=) c.2172C>T (p.Ala724=) c.1899C>T (p.Ala633=) c.2223C>T (p.Ala741=) c.2133C>T (p.Ala711=) c.2124C>T (p.Ala708=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.123291293G>C | CA435431270 | ADCY5 | c.1824C>G (p.Ala608=) c.2112C>G (p.Ala704=) n.1550C>G c.3222C>G (p.Ala1074=) c.3147C>G (p.Ala1049=) c.2097C>G (p.Ala699=) c.2121C>G (p.Ala707=) c.2172C>G (p.Ala724=) c.1899C>G (p.Ala633=) c.2223C>G (p.Ala741=) c.2133C>G (p.Ala711=) c.2124C>G (p.Ala708=) | |
3 | g.123291293G= | CA1398330428 | ADCY5 | c.1824C= (p.Ala608=) c.2112C= (p.Ala704=) n.1550C= c.3222C= (p.Ala1074=) c.3147C= (p.Ala1049=) c.2097C= (p.Ala699=) c.2121C= (p.Ala707=) c.2172C= (p.Ala724=) c.1899C= (p.Ala633=) c.2223C= (p.Ala741=) c.2133C= (p.Ala711=) c.2124C= (p.Ala708=) | |
3 | g.123291293G>T | CA435431271 | ADCY5 | c.1824C>A (p.Ala608=) c.2112C>A (p.Ala704=) n.1550C>A c.3222C>A (p.Ala1074=) c.3147C>A (p.Ala1049=) c.2097C>A (p.Ala699=) c.2121C>A (p.Ala707=) c.2172C>A (p.Ala724=) c.1899C>A (p.Ala633=) c.2223C>A (p.Ala741=) c.2133C>A (p.Ala711=) c.2124C>A (p.Ala708=) | |
3 | g.123291294G>A | CA354223714 | ADCY5 | c.1823C>T (p.Ala608Val) c.2111C>T (p.Ala704Val) n.1549C>T c.3221C>T (p.Ala1074Val) c.3146C>T (p.Ala1049Val) c.2096C>T (p.Ala699Val) c.2120C>T (p.Ala707Val) c.2171C>T (p.Ala724Val) c.1898C>T (p.Ala633Val) c.2222C>T (p.Ala741Val) c.2132C>T (p.Ala711Val) c.2123C>T (p.Ala708Val) | gnomAD v4 |
3 | g.123291294G>C | CA354223715 | ADCY5 | c.1823C>G (p.Ala608Gly) c.2111C>G (p.Ala704Gly) n.1549C>G c.3221C>G (p.Ala1074Gly) c.3146C>G (p.Ala1049Gly) c.2096C>G (p.Ala699Gly) c.2120C>G (p.Ala707Gly) c.2171C>G (p.Ala724Gly) c.1898C>G (p.Ala633Gly) c.2222C>G (p.Ala741Gly) c.2132C>G (p.Ala711Gly) c.2123C>G (p.Ala708Gly) | dbSNP gnomAD v4 |
3 | g.123291294G= | CA1398330429 | ADCY5 | c.1823C= (p.Ala608=) c.2111C= (p.Ala704=) n.1549C= c.3221C= (p.Ala1074=) c.3146C= (p.Ala1049=) c.2096C= (p.Ala699=) c.2120C= (p.Ala707=) c.2171C= (p.Ala724=) c.1898C= (p.Ala633=) c.2222C= (p.Ala741=) c.2132C= (p.Ala711=) c.2123C= (p.Ala708=) | |
3 | g.123291294G>T | CA354223716 | ADCY5 | c.1823C>A (p.Ala608Asp) c.2111C>A (p.Ala704Asp) n.1549C>A c.3221C>A (p.Ala1074Asp) c.3146C>A (p.Ala1049Asp) c.2096C>A (p.Ala699Asp) c.2120C>A (p.Ala707Asp) c.2171C>A (p.Ala724Asp) c.1898C>A (p.Ala633Asp) c.2222C>A (p.Ala741Asp) c.2132C>A (p.Ala711Asp) c.2123C>A (p.Ala708Asp) | |
3 | g.123291295C>A | CA354223717 | ADCY5 | c.1822G>T (p.Ala608Ser) c.2110G>T (p.Ala704Ser) n.1548G>T c.3220G>T (p.Ala1074Ser) c.3145G>T (p.Ala1049Ser) c.2095G>T (p.Ala699Ser) c.2119G>T (p.Ala707Ser) c.2170G>T (p.Ala724Ser) c.1897G>T (p.Ala633Ser) c.2221G>T (p.Ala741Ser) c.2131G>T (p.Ala711Ser) c.2122G>T (p.Ala708Ser) | |
3 | g.123291295C>G | CA354223718 | ADCY5 | c.1822G>C (p.Ala608Pro) c.2110G>C (p.Ala704Pro) n.1548G>C c.3220G>C (p.Ala1074Pro) c.3145G>C (p.Ala1049Pro) c.2095G>C (p.Ala699Pro) c.2119G>C (p.Ala707Pro) c.2170G>C (p.Ala724Pro) c.1897G>C (p.Ala633Pro) c.2221G>C (p.Ala741Pro) c.2131G>C (p.Ala711Pro) c.2122G>C (p.Ala708Pro) | |
3 | g.123291295C>T | CA354223719 | ADCY5 | c.1822G>A (p.Ala608Thr) c.2110G>A (p.Ala704Thr) n.1548G>A c.3220G>A (p.Ala1074Thr) c.3145G>A (p.Ala1049Thr) c.2095G>A (p.Ala699Thr) c.2119G>A (p.Ala707Thr) c.2170G>A (p.Ala724Thr) c.1897G>A (p.Ala633Thr) c.2221G>A (p.Ala741Thr) c.2131G>A (p.Ala711Thr) c.2122G>A (p.Ala708Thr) | |
3 | g.123291296C>A | CA435431272 | ADCY5 | c.1821G>T (p.Val607=) c.2109G>T (p.Val703=) n.1547G>T c.3219G>T (p.Val1073=) c.3144G>T (p.Val1048=) c.2094G>T (p.Val698=) c.2118G>T (p.Val706=) c.2169G>T (p.Val723=) c.1896G>T (p.Val632=) c.2220G>T (p.Val740=) c.2130G>T (p.Val710=) c.2121G>T (p.Val707=) | |
3 | g.123291296C= | CA1398330430 | ADCY5 | c.1821G= (p.Val607=) c.2109G= (p.Val703=) n.1547G= c.3219G= (p.Val1073=) c.3144G= (p.Val1048=) c.2094G= (p.Val698=) c.2118G= (p.Val706=) c.2169G= (p.Val723=) c.1896G= (p.Val632=) c.2220G= (p.Val740=) c.2130G= (p.Val710=) c.2121G= (p.Val707=) | |
3 | g.123291296C>G | CA435431273 | ADCY5 | c.1821G>C (p.Val607=) c.2109G>C (p.Val703=) n.1547G>C c.3219G>C (p.Val1073=) c.3144G>C (p.Val1048=) c.2094G>C (p.Val698=) c.2118G>C (p.Val706=) c.2169G>C (p.Val723=) c.1896G>C (p.Val632=) c.2220G>C (p.Val740=) c.2130G>C (p.Val710=) c.2121G>C (p.Val707=) | |
3 | g.123291296C>T | CA435431274 | ADCY5 | c.1821G>A (p.Val607=) c.2109G>A (p.Val703=) n.1547G>A c.3219G>A (p.Val1073=) c.3144G>A (p.Val1048=) c.2094G>A (p.Val698=) c.2118G>A (p.Val706=) c.2169G>A (p.Val723=) c.1896G>A (p.Val632=) c.2220G>A (p.Val740=) c.2130G>A (p.Val710=) c.2121G>A (p.Val707=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.123291297_123291298del | CA2667290341 | ADCY5 | c.1820_1821del (p.Val607GlyfsTer12) c.2108_2109del (p.Val703GlyfsTer12) n.1546_1547del c.3218_3219del (p.Val1073GlyfsTer12) c.3143_3144del (p.Val1048GlyfsTer12) c.2093_2094del (p.Val698GlyfsTer12) c.2117_2118del (p.Val706GlyfsTer12) c.2168_2169del (p.Val723GlyfsTer12) c.1895_1896del (p.Val632GlyfsTer12) c.2219_2220del (p.Val740GlyfsTer12) c.2129_2130del (p.Val710GlyfsTer12) c.2120_2121del (p.Val707GlyfsTer12) | gnomAD v4 |
3 | g.123291297A>C | CA354223722 | ADCY5 | c.1820T>G (p.Val607Gly) c.2108T>G (p.Val703Gly) n.1546T>G c.3218T>G (p.Val1073Gly) c.3143T>G (p.Val1048Gly) c.2093T>G (p.Val698Gly) c.2117T>G (p.Val706Gly) c.2168T>G (p.Val723Gly) c.1895T>G (p.Val632Gly) c.2219T>G (p.Val740Gly) c.2129T>G (p.Val710Gly) c.2120T>G (p.Val707Gly) | |
3 | g.123291297A>G | CA354223721 | ADCY5 | c.1820T>C (p.Val607Ala) c.2108T>C (p.Val703Ala) n.1546T>C c.3218T>C (p.Val1073Ala) c.3143T>C (p.Val1048Ala) c.2093T>C (p.Val698Ala) c.2117T>C (p.Val706Ala) c.2168T>C (p.Val723Ala) c.1895T>C (p.Val632Ala) c.2219T>C (p.Val740Ala) c.2129T>C (p.Val710Ala) c.2120T>C (p.Val707Ala) | |
3 | g.123291297A>T | CA354223720 | ADCY5 | c.1820T>A (p.Val607Glu) c.2108T>A (p.Val703Glu) n.1546T>A c.3218T>A (p.Val1073Glu) c.3143T>A (p.Val1048Glu) c.2093T>A (p.Val698Glu) c.2117T>A (p.Val706Glu) c.2168T>A (p.Val723Glu) c.1895T>A (p.Val632Glu) c.2219T>A (p.Val740Glu) c.2129T>A (p.Val710Glu) c.2120T>A (p.Val707Glu) | |
3 | g.123291298C>A | CA354223723 | ADCY5 | c.1819G>T (p.Val607Leu) c.2107G>T (p.Val703Leu) n.1545G>T c.3217G>T (p.Val1073Leu) c.3142G>T (p.Val1048Leu) c.2092G>T (p.Val698Leu) c.2116G>T (p.Val706Leu) c.2167G>T (p.Val723Leu) c.1894G>T (p.Val632Leu) c.2218G>T (p.Val740Leu) c.2128G>T (p.Val710Leu) c.2119G>T (p.Val707Leu) | |
3 | g.123291298C= | CA1398330431 | ADCY5 | c.1819G= (p.Val607=) c.2107G= (p.Val703=) n.1545G= c.3217G= (p.Val1073=) c.3142G= (p.Val1048=) c.2092G= (p.Val698=) c.2116G= (p.Val706=) c.2167G= (p.Val723=) c.1894G= (p.Val632=) c.2218G= (p.Val740=) c.2128G= (p.Val710=) c.2119G= (p.Val707=) | |
3 | g.123291298C>G | CA354223724 | ADCY5 | c.1819G>C (p.Val607Leu) c.2107G>C (p.Val703Leu) n.1545G>C c.3217G>C (p.Val1073Leu) c.3142G>C (p.Val1048Leu) c.2092G>C (p.Val698Leu) c.2116G>C (p.Val706Leu) c.2167G>C (p.Val723Leu) c.1894G>C (p.Val632Leu) c.2218G>C (p.Val740Leu) c.2128G>C (p.Val710Leu) c.2119G>C (p.Val707Leu) | |
3 | g.123291298C>T | CA354223725 | ADCY5 | c.1819G>A (p.Val607Met) c.2107G>A (p.Val703Met) n.1545G>A c.3217G>A (p.Val1073Met) c.3142G>A (p.Val1048Met) c.2092G>A (p.Val698Met) c.2116G>A (p.Val706Met) c.2167G>A (p.Val723Met) c.1894G>A (p.Val632Met) c.2218G>A (p.Val740Met) c.2128G>A (p.Val710Met) c.2119G>A (p.Val707Met) | dbSNP gnomAD v4 |
3 | g.123291299G>A | CA2576844 | ADCY5 | c.1818C>T (p.Asp606=) c.2106C>T (p.Asp702=) n.1544C>T c.3216C>T (p.Asp1072=) c.3141C>T (p.Asp1047=) c.2091C>T (p.Asp697=) c.2115C>T (p.Asp705=) c.2166C>T (p.Asp722=) c.1893C>T (p.Asp631=) c.2217C>T (p.Asp739=) c.2127C>T (p.Asp709=) c.2118C>T (p.Asp706=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.123291299G>C | CA354223726 | ADCY5 | c.1818C>G (p.Asp606Glu) c.2106C>G (p.Asp702Glu) n.1544C>G c.3216C>G (p.Asp1072Glu) c.3141C>G (p.Asp1047Glu) c.2091C>G (p.Asp697Glu) c.2115C>G (p.Asp705Glu) c.2166C>G (p.Asp722Glu) c.1893C>G (p.Asp631Glu) c.2217C>G (p.Asp739Glu) c.2127C>G (p.Asp709Glu) c.2118C>G (p.Asp706Glu) | |
3 | g.123291299G= | CA1398330432 | ADCY5 | c.1818C= (p.Asp606=) c.2106C= (p.Asp702=) n.1544C= c.3216C= (p.Asp1072=) c.3141C= (p.Asp1047=) c.2091C= (p.Asp697=) c.2115C= (p.Asp705=) c.2166C= (p.Asp722=) c.1893C= (p.Asp631=) c.2217C= (p.Asp739=) c.2127C= (p.Asp709=) c.2118C= (p.Asp706=) | |
3 | g.123291299G>T | CA354223727 | ADCY5 | c.1818C>A (p.Asp606Glu) c.2106C>A (p.Asp702Glu) n.1544C>A c.3216C>A (p.Asp1072Glu) c.3141C>A (p.Asp1047Glu) c.2091C>A (p.Asp697Glu) c.2115C>A (p.Asp705Glu) c.2166C>A (p.Asp722Glu) c.1893C>A (p.Asp631Glu) c.2217C>A (p.Asp739Glu) c.2127C>A (p.Asp709Glu) c.2118C>A (p.Asp706Glu) | |
3 | g.123291300T>A | CA354223728 | ADCY5 | c.1817A>T (p.Asp606Val) c.2105A>T (p.Asp702Val) n.1543A>T c.3215A>T (p.Asp1072Val) c.3140A>T (p.Asp1047Val) c.2090A>T (p.Asp697Val) c.2114A>T (p.Asp705Val) c.2165A>T (p.Asp722Val) c.1892A>T (p.Asp631Val) c.2216A>T (p.Asp739Val) c.2126A>T (p.Asp709Val) c.2117A>T (p.Asp706Val) | |
3 | g.123291300T>C | CA354223729 | ADCY5 | c.1817A>G (p.Asp606Gly) c.2105A>G (p.Asp702Gly) n.1543A>G c.3215A>G (p.Asp1072Gly) c.3140A>G (p.Asp1047Gly) c.2090A>G (p.Asp697Gly) c.2114A>G (p.Asp705Gly) c.2165A>G (p.Asp722Gly) c.1892A>G (p.Asp631Gly) c.2216A>G (p.Asp739Gly) c.2126A>G (p.Asp709Gly) c.2117A>G (p.Asp706Gly) | gnomAD v4 |
3 | g.123291300T>G | CA354223730 | ADCY5 | c.1817A>C (p.Asp606Ala) c.2105A>C (p.Asp702Ala) n.1543A>C c.3215A>C (p.Asp1072Ala) c.3140A>C (p.Asp1047Ala) c.2090A>C (p.Asp697Ala) c.2114A>C (p.Asp705Ala) c.2165A>C (p.Asp722Ala) c.1892A>C (p.Asp631Ala) c.2216A>C (p.Asp739Ala) c.2126A>C (p.Asp709Ala) c.2117A>C (p.Asp706Ala) | |
3 | g.123291301C>A | CA354223731 | ADCY5 | c.1816G>T (p.Asp606Tyr) c.2104G>T (p.Asp702Tyr) n.1542G>T c.3214G>T (p.Asp1072Tyr) c.3139G>T (p.Asp1047Tyr) c.2089G>T (p.Asp697Tyr) c.2113G>T (p.Asp705Tyr) c.2164G>T (p.Asp722Tyr) c.1891G>T (p.Asp631Tyr) c.2215G>T (p.Asp739Tyr) c.2125G>T (p.Asp709Tyr) c.2116G>T (p.Asp706Tyr) | |
3 | g.123291301C>G | CA354223732 | ADCY5 | c.1816G>C (p.Asp606His) c.2104G>C (p.Asp702His) n.1542G>C c.3214G>C (p.Asp1072His) c.3139G>C (p.Asp1047His) c.2089G>C (p.Asp697His) c.2113G>C (p.Asp705His) c.2164G>C (p.Asp722His) c.1891G>C (p.Asp631His) c.2215G>C (p.Asp739His) c.2125G>C (p.Asp709His) c.2116G>C (p.Asp706His) | |
3 | g.123291301C>T | CA354223733 | ADCY5 | c.1816G>A (p.Asp606Asn) c.2104G>A (p.Asp702Asn) n.1542G>A c.3214G>A (p.Asp1072Asn) c.3139G>A (p.Asp1047Asn) c.2089G>A (p.Asp697Asn) c.2113G>A (p.Asp705Asn) c.2164G>A (p.Asp722Asn) c.1891G>A (p.Asp631Asn) c.2215G>A (p.Asp739Asn) c.2125G>A (p.Asp709Asn) c.2116G>A (p.Asp706Asn) | |
3 | g.123291302C>A | CA354223734 | ADCY5 | c.1815G>T (p.Lys605Asn) c.2103G>T (p.Lys701Asn) n.1541G>T c.3213G>T (p.Lys1071Asn) c.3138G>T (p.Lys1046Asn) c.2088G>T (p.Lys696Asn) c.2112G>T (p.Lys704Asn) c.2163G>T (p.Lys721Asn) c.1890G>T (p.Lys630Asn) c.2214G>T (p.Lys738Asn) c.2124G>T (p.Lys708Asn) c.2115G>T (p.Lys705Asn) | |
3 | g.123291302C>G | CA354223735 | ADCY5 | c.1815G>C (p.Lys605Asn) c.2103G>C (p.Lys701Asn) n.1541G>C c.3213G>C (p.Lys1071Asn) c.3138G>C (p.Lys1046Asn) c.2088G>C (p.Lys696Asn) c.2112G>C (p.Lys704Asn) c.2163G>C (p.Lys721Asn) c.1890G>C (p.Lys630Asn) c.2214G>C (p.Lys738Asn) c.2124G>C (p.Lys708Asn) c.2115G>C (p.Lys705Asn) | |
3 | g.123291302C>T | CA435431275 | ADCY5 | c.1815G>A (p.Lys605=) c.2103G>A (p.Lys701=) n.1541G>A c.3213G>A (p.Lys1071=) c.3138G>A (p.Lys1046=) c.2088G>A (p.Lys696=) c.2112G>A (p.Lys704=) c.2163G>A (p.Lys721=) c.1890G>A (p.Lys630=) c.2214G>A (p.Lys738=) c.2124G>A (p.Lys708=) c.2115G>A (p.Lys705=) | COSMIC |
3 | g.123291303T>A | CA354223736 | ADCY5 | c.1814A>T (p.Lys605Met) c.2102A>T (p.Lys701Met) n.1540A>T c.3212A>T (p.Lys1071Met) c.3137A>T (p.Lys1046Met) c.2087A>T (p.Lys696Met) c.2111A>T (p.Lys704Met) c.2162A>T (p.Lys721Met) c.1889A>T (p.Lys630Met) c.2213A>T (p.Lys738Met) c.2123A>T (p.Lys708Met) c.2114A>T (p.Lys705Met) | |
3 | g.123291303T>C | CA354223737 | ADCY5 | c.1814A>G (p.Lys605Arg) c.2102A>G (p.Lys701Arg) n.1540A>G c.3212A>G (p.Lys1071Arg) c.3137A>G (p.Lys1046Arg) c.2087A>G (p.Lys696Arg) c.2111A>G (p.Lys704Arg) c.2162A>G (p.Lys721Arg) c.1889A>G (p.Lys630Arg) c.2213A>G (p.Lys738Arg) c.2123A>G (p.Lys708Arg) c.2114A>G (p.Lys705Arg) | gnomAD v4 |
3 | g.123291303T>G | CA354223738 | ADCY5 | c.1814A>C (p.Lys605Thr) c.2102A>C (p.Lys701Thr) n.1540A>C c.3212A>C (p.Lys1071Thr) c.3137A>C (p.Lys1046Thr) c.2087A>C (p.Lys696Thr) c.2111A>C (p.Lys704Thr) c.2162A>C (p.Lys721Thr) c.1889A>C (p.Lys630Thr) c.2213A>C (p.Lys738Thr) c.2123A>C (p.Lys708Thr) c.2114A>C (p.Lys705Thr) | |
3 | g.123291304T>A | CA354223739 | ADCY5 | c.1813A>T (p.Lys605Ter) c.2101A>T (p.Lys701Ter) n.1539A>T c.3211A>T (p.Lys1071Ter) c.3136A>T (p.Lys1046Ter) c.2086A>T (p.Lys696Ter) c.2110A>T (p.Lys704Ter) c.2161A>T (p.Lys721Ter) c.1888A>T (p.Lys630Ter) c.2212A>T (p.Lys738Ter) c.2122A>T (p.Lys708Ter) c.2113A>T (p.Lys705Ter) | dbSNP |
3 | g.123291304T>C | CA354223740 | ADCY5 | c.1813A>G (p.Lys605Glu) c.2101A>G (p.Lys701Glu) n.1539A>G c.3211A>G (p.Lys1071Glu) c.3136A>G (p.Lys1046Glu) c.2086A>G (p.Lys696Glu) c.2110A>G (p.Lys704Glu) c.2161A>G (p.Lys721Glu) c.1888A>G (p.Lys630Glu) c.2212A>G (p.Lys738Glu) c.2122A>G (p.Lys708Glu) c.2113A>G (p.Lys705Glu) | |
3 | g.123291304T>G | CA354223741 | ADCY5 | c.1813A>C (p.Lys605Gln) c.2101A>C (p.Lys701Gln) n.1539A>C c.3211A>C (p.Lys1071Gln) c.3136A>C (p.Lys1046Gln) c.2086A>C (p.Lys696Gln) c.2110A>C (p.Lys704Gln) c.2161A>C (p.Lys721Gln) c.1888A>C (p.Lys630Gln) c.2212A>C (p.Lys738Gln) c.2122A>C (p.Lys708Gln) c.2113A>C (p.Lys705Gln) | |
3 | g.123291304T= | CA1398330433 | ADCY5 | c.1813A= (p.Lys605=) c.2101A= (p.Lys701=) n.1539A= c.3211A= (p.Lys1071=) c.3136A= (p.Lys1046=) c.2086A= (p.Lys696=) c.2110A= (p.Lys704=) c.2161A= (p.Lys721=) c.1888A= (p.Lys630=) c.2212A= (p.Lys738=) c.2122A= (p.Lys708=) c.2113A= (p.Lys705=) | |
3 | g.123291305G>A | CA82904117 | ADCY5 | c.1812C>T (p.Pro604=) c.2100C>T (p.Pro700=) n.1538C>T c.3210C>T (p.Pro1070=) c.3135C>T (p.Pro1045=) c.2085C>T (p.Pro695=) c.2109C>T (p.Pro703=) c.2160C>T (p.Pro720=) c.1887C>T (p.Pro629=) c.2211C>T (p.Pro737=) c.2121C>T (p.Pro707=) c.2112C>T (p.Pro704=) | dbSNP |
3 | g.123291305G>C | CA435431276 | ADCY5 | c.1812C>G (p.Pro604=) c.2100C>G (p.Pro700=) n.1538C>G c.3210C>G (p.Pro1070=) c.3135C>G (p.Pro1045=) c.2085C>G (p.Pro695=) c.2109C>G (p.Pro703=) c.2160C>G (p.Pro720=) c.1887C>G (p.Pro629=) c.2211C>G (p.Pro737=) c.2121C>G (p.Pro707=) c.2112C>G (p.Pro704=) | |
3 | g.123291305G= | CA1398330434 | ADCY5 | c.1812C= (p.Pro604=) c.2100C= (p.Pro700=) n.1538C= c.3210C= (p.Pro1070=) c.3135C= (p.Pro1045=) c.2085C= (p.Pro695=) c.2109C= (p.Pro703=) c.2160C= (p.Pro720=) c.1887C= (p.Pro629=) c.2211C= (p.Pro737=) c.2121C= (p.Pro707=) c.2112C= (p.Pro704=) | |
3 | g.123291305G>T | CA435431277 | ADCY5 | c.1812C>A (p.Pro604=) c.2100C>A (p.Pro700=) n.1538C>A c.3210C>A (p.Pro1070=) c.3135C>A (p.Pro1045=) c.2085C>A (p.Pro695=) c.2109C>A (p.Pro703=) c.2160C>A (p.Pro720=) c.1887C>A (p.Pro629=) c.2211C>A (p.Pro737=) c.2121C>A (p.Pro707=) c.2112C>A (p.Pro704=) | |
3 | g.123291306G>A | CA354223742 | ADCY5 | c.1811C>T (p.Pro604Leu) c.2099C>T (p.Pro700Leu) n.1537C>T c.3209C>T (p.Pro1070Leu) c.3134C>T (p.Pro1045Leu) c.2084C>T (p.Pro695Leu) c.2108C>T (p.Pro703Leu) c.2159C>T (p.Pro720Leu) c.1886C>T (p.Pro629Leu) c.2210C>T (p.Pro737Leu) c.2120C>T (p.Pro707Leu) c.2111C>T (p.Pro704Leu) | COSMIC |
3 | g.123291306G>C | CA354223743 | ADCY5 | c.1811C>G (p.Pro604Arg) c.2099C>G (p.Pro700Arg) n.1537C>G c.3209C>G (p.Pro1070Arg) c.3134C>G (p.Pro1045Arg) c.2084C>G (p.Pro695Arg) c.2108C>G (p.Pro703Arg) c.2159C>G (p.Pro720Arg) c.1886C>G (p.Pro629Arg) c.2210C>G (p.Pro737Arg) c.2120C>G (p.Pro707Arg) c.2111C>G (p.Pro704Arg) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.123291306G= | CA1398330435 | ADCY5 | c.1811C= (p.Pro604=) c.2099C= (p.Pro700=) n.1537C= c.3209C= (p.Pro1070=) c.3134C= (p.Pro1045=) c.2084C= (p.Pro695=) c.2108C= (p.Pro703=) c.2159C= (p.Pro720=) c.1886C= (p.Pro629=) c.2210C= (p.Pro737=) c.2120C= (p.Pro707=) c.2111C= (p.Pro704=) | |
3 | g.123291306G>T | CA354223744 | ADCY5 | c.1811C>A (p.Pro604His) c.2099C>A (p.Pro700His) n.1537C>A c.3209C>A (p.Pro1070His) c.3134C>A (p.Pro1045His) c.2084C>A (p.Pro695His) c.2108C>A (p.Pro703His) c.2159C>A (p.Pro720His) c.1886C>A (p.Pro629His) c.2210C>A (p.Pro737His) c.2120C>A (p.Pro707His) c.2111C>A (p.Pro704His) | |
3 | g.123291307G>A | CA354223745 | ADCY5 | c.1810C>T (p.Pro604Ser) c.2098C>T (p.Pro700Ser) n.1536C>T c.3208C>T (p.Pro1070Ser) c.3133C>T (p.Pro1045Ser) c.2083C>T (p.Pro695Ser) c.2107C>T (p.Pro703Ser) c.2158C>T (p.Pro720Ser) c.1885C>T (p.Pro629Ser) c.2209C>T (p.Pro737Ser) c.2119C>T (p.Pro707Ser) c.2110C>T (p.Pro704Ser) | COSMIC |
3 | g.123291307G>C | CA354223746 | ADCY5 | c.1810C>G (p.Pro604Ala) c.2098C>G (p.Pro700Ala) n.1536C>G c.3208C>G (p.Pro1070Ala) c.3133C>G (p.Pro1045Ala) c.2083C>G (p.Pro695Ala) c.2107C>G (p.Pro703Ala) c.2158C>G (p.Pro720Ala) c.1885C>G (p.Pro629Ala) c.2209C>G (p.Pro737Ala) c.2119C>G (p.Pro707Ala) c.2110C>G (p.Pro704Ala) | |
3 | g.123291307G>T | CA354223747 | ADCY5 | c.1810C>A (p.Pro604Thr) c.2098C>A (p.Pro700Thr) n.1536C>A c.3208C>A (p.Pro1070Thr) c.3133C>A (p.Pro1045Thr) c.2083C>A (p.Pro695Thr) c.2107C>A (p.Pro703Thr) c.2158C>A (p.Pro720Thr) c.1885C>A (p.Pro629Thr) c.2209C>A (p.Pro737Thr) c.2119C>A (p.Pro707Thr) c.2110C>A (p.Pro704Thr) | |
3 | g.123291308C>A | CA435431278 | ADCY5 | c.1809G>T (p.Leu603=) c.2097G>T (p.Leu699=) n.1535G>T c.3207G>T (p.Leu1069=) c.3132G>T (p.Leu1044=) c.2082G>T (p.Leu694=) c.2106G>T (p.Leu702=) c.2157G>T (p.Leu719=) c.1884G>T (p.Leu628=) c.2208G>T (p.Leu736=) c.2118G>T (p.Leu706=) c.2109G>T (p.Leu703=) | |
3 | g.123291308C>G | CA435431279 | ADCY5 | c.1809G>C (p.Leu603=) c.2097G>C (p.Leu699=) n.1535G>C c.3207G>C (p.Leu1069=) c.3132G>C (p.Leu1044=) c.2082G>C (p.Leu694=) c.2106G>C (p.Leu702=) c.2157G>C (p.Leu719=) c.1884G>C (p.Leu628=) c.2208G>C (p.Leu736=) c.2118G>C (p.Leu706=) c.2109G>C (p.Leu703=) | |
3 | g.123291308C>T | CA435431280 | ADCY5 | c.1809G>A (p.Leu603=) c.2097G>A (p.Leu699=) n.1535G>A c.3207G>A (p.Leu1069=) c.3132G>A (p.Leu1044=) c.2082G>A (p.Leu694=) c.2106G>A (p.Leu702=) c.2157G>A (p.Leu719=) c.1884G>A (p.Leu628=) c.2208G>A (p.Leu736=) c.2118G>A (p.Leu706=) c.2109G>A (p.Leu703=) | |
3 | g.123291309A>C | CA354223750 | ADCY5 | c.1808T>G (p.Leu603Arg) c.2096T>G (p.Leu699Arg) n.1534T>G c.3206T>G (p.Leu1069Arg) c.3131T>G (p.Leu1044Arg) c.2081T>G (p.Leu694Arg) c.2105T>G (p.Leu702Arg) c.2156T>G (p.Leu719Arg) c.1883T>G (p.Leu628Arg) c.2207T>G (p.Leu736Arg) c.2117T>G (p.Leu706Arg) c.2108T>G (p.Leu703Arg) | |
3 | g.123291309A>G | CA354223748 | ADCY5 | c.1808T>C (p.Leu603Pro) c.2096T>C (p.Leu699Pro) n.1534T>C c.3206T>C (p.Leu1069Pro) c.3131T>C (p.Leu1044Pro) c.2081T>C (p.Leu694Pro) c.2105T>C (p.Leu702Pro) c.2156T>C (p.Leu719Pro) c.1883T>C (p.Leu628Pro) c.2207T>C (p.Leu736Pro) c.2117T>C (p.Leu706Pro) c.2108T>C (p.Leu703Pro) | |
3 | g.123291309A>T | CA354223749 | ADCY5 | c.1808T>A (p.Leu603Gln) c.2096T>A (p.Leu699Gln) n.1534T>A c.3206T>A (p.Leu1069Gln) c.3131T>A (p.Leu1044Gln) c.2081T>A (p.Leu694Gln) c.2105T>A (p.Leu702Gln) c.2156T>A (p.Leu719Gln) c.1883T>A (p.Leu628Gln) c.2207T>A (p.Leu736Gln) c.2117T>A (p.Leu706Gln) c.2108T>A (p.Leu703Gln) | |
3 | g.123291310G>A | CA435431281 | ADCY5 | c.1807C>T (p.Leu603=) c.2095C>T (p.Leu699=) n.1533C>T c.3205C>T (p.Leu1069=) c.3130C>T (p.Leu1044=) c.2080C>T (p.Leu694=) c.2104C>T (p.Leu702=) c.2155C>T (p.Leu719=) c.1882C>T (p.Leu628=) c.2206C>T (p.Leu736=) c.2116C>T (p.Leu706=) c.2107C>T (p.Leu703=) | gnomAD v4 |
3 | g.123291310G>C | CA354223751 | ADCY5 | c.1807C>G (p.Leu603Val) c.2095C>G (p.Leu699Val) n.1533C>G c.3205C>G (p.Leu1069Val) c.3130C>G (p.Leu1044Val) c.2080C>G (p.Leu694Val) c.2104C>G (p.Leu702Val) c.2155C>G (p.Leu719Val) c.1882C>G (p.Leu628Val) c.2206C>G (p.Leu736Val) c.2116C>G (p.Leu706Val) c.2107C>G (p.Leu703Val) | |
3 | g.123291310G>T | CA354223752 | ADCY5 | c.1807C>A (p.Leu603Met) c.2095C>A (p.Leu699Met) n.1533C>A c.3205C>A (p.Leu1069Met) c.3130C>A (p.Leu1044Met) c.2080C>A (p.Leu694Met) c.2104C>A (p.Leu702Met) c.2155C>A (p.Leu719Met) c.1882C>A (p.Leu628Met) c.2206C>A (p.Leu736Met) c.2116C>A (p.Leu706Met) c.2107C>A (p.Leu703Met) | |
3 | g.123291311G>A | CA435431283 | ADCY5 | c.1806C>T (p.Ile602=) c.2094C>T (p.Ile698=) n.1532C>T c.3204C>T (p.Ile1068=) c.3129C>T (p.Ile1043=) c.2079C>T (p.Ile693=) c.2103C>T (p.Ile701=) c.2154C>T (p.Ile718=) c.1881C>T (p.Ile627=) c.2205C>T (p.Ile735=) c.2115C>T (p.Ile705=) c.2106C>T (p.Ile702=) | |
3 | g.123291311G>C | CA354223753 | ADCY5 | c.1806C>G (p.Ile602Met) c.2094C>G (p.Ile698Met) n.1532C>G c.3204C>G (p.Ile1068Met) c.3129C>G (p.Ile1043Met) c.2079C>G (p.Ile693Met) c.2103C>G (p.Ile701Met) c.2154C>G (p.Ile718Met) c.1881C>G (p.Ile627Met) c.2205C>G (p.Ile735Met) c.2115C>G (p.Ile705Met) c.2106C>G (p.Ile702Met) | |
3 | g.123291311G>T | CA435431284 | ADCY5 | c.1806C>A (p.Ile602=) c.2094C>A (p.Ile698=) n.1532C>A c.3204C>A (p.Ile1068=) c.3129C>A (p.Ile1043=) c.2079C>A (p.Ile693=) c.2103C>A (p.Ile701=) c.2154C>A (p.Ile718=) c.1881C>A (p.Ile627=) c.2205C>A (p.Ile735=) c.2115C>A (p.Ile705=) c.2106C>A (p.Ile702=) | |
3 | g.123291312A>C | CA354223754 | ADCY5 | c.1805T>G (p.Ile602Ser) c.2093T>G (p.Ile698Ser) n.1531T>G c.3203T>G (p.Ile1068Ser) c.3128T>G (p.Ile1043Ser) c.2078T>G (p.Ile693Ser) c.2102T>G (p.Ile701Ser) c.2153T>G (p.Ile718Ser) c.1880T>G (p.Ile627Ser) c.2204T>G (p.Ile735Ser) c.2114T>G (p.Ile705Ser) c.2105T>G (p.Ile702Ser) | |
3 | g.123291312A>G | CA354223755 | ADCY5 | c.1805T>C (p.Ile602Thr) c.2093T>C (p.Ile698Thr) n.1531T>C c.3203T>C (p.Ile1068Thr) c.3128T>C (p.Ile1043Thr) c.2078T>C (p.Ile693Thr) c.2102T>C (p.Ile701Thr) c.2153T>C (p.Ile718Thr) c.1880T>C (p.Ile627Thr) c.2204T>C (p.Ile735Thr) c.2114T>C (p.Ile705Thr) c.2105T>C (p.Ile702Thr) | |
3 | g.123291312A>T | CA354223756 | ADCY5 | c.1805T>A (p.Ile602Asn) c.2093T>A (p.Ile698Asn) n.1531T>A c.3203T>A (p.Ile1068Asn) c.3128T>A (p.Ile1043Asn) c.2078T>A (p.Ile693Asn) c.2102T>A (p.Ile701Asn) c.2153T>A (p.Ile718Asn) c.1880T>A (p.Ile627Asn) c.2204T>A (p.Ile735Asn) c.2114T>A (p.Ile705Asn) c.2105T>A (p.Ile702Asn) | |
3 | g.123291313T>A | CA354223757 | ADCY5 | c.1804A>T (p.Ile602Phe) c.2092A>T (p.Ile698Phe) n.1530A>T c.3202A>T (p.Ile1068Phe) c.3127A>T (p.Ile1043Phe) c.2077A>T (p.Ile693Phe) c.2101A>T (p.Ile701Phe) c.2152A>T (p.Ile718Phe) c.1879A>T (p.Ile627Phe) c.2203A>T (p.Ile735Phe) c.2113A>T (p.Ile705Phe) c.2104A>T (p.Ile702Phe) | |
3 | g.123291313T>C | CA354223758 | ADCY5 | c.1804A>G (p.Ile602Val) c.2092A>G (p.Ile698Val) n.1530A>G c.3202A>G (p.Ile1068Val) c.3127A>G (p.Ile1043Val) c.2077A>G (p.Ile693Val) c.2101A>G (p.Ile701Val) c.2152A>G (p.Ile718Val) c.1879A>G (p.Ile627Val) c.2203A>G (p.Ile735Val) c.2113A>G (p.Ile705Val) c.2104A>G (p.Ile702Val) | |
3 | g.123291313T>G | CA354223759 | ADCY5 | c.1804A>C (p.Ile602Leu) c.2092A>C (p.Ile698Leu) n.1530A>C c.3202A>C (p.Ile1068Leu) c.3127A>C (p.Ile1043Leu) c.2077A>C (p.Ile693Leu) c.2101A>C (p.Ile701Leu) c.2152A>C (p.Ile718Leu) c.1879A>C (p.Ile627Leu) c.2203A>C (p.Ile735Leu) c.2113A>C (p.Ile705Leu) c.2104A>C (p.Ile702Leu) | |
3 | g.123291314G>A | CA2576845 | ADCY5 | c.1803C>T (p.Asn601=) c.2091C>T (p.Asn697=) n.1529C>T c.3201C>T (p.Asn1067=) c.3126C>T (p.Asn1042=) c.2076C>T (p.Asn692=) c.2100C>T (p.Asn700=) c.2151C>T (p.Asn717=) c.1878C>T (p.Asn626=) c.2202C>T (p.Asn734=) c.2112C>T (p.Asn704=) c.2103C>T (p.Asn701=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.123291314G>C | CA354223760 | ADCY5 | c.1803C>G (p.Asn601Lys) c.2091C>G (p.Asn697Lys) n.1529C>G c.3201C>G (p.Asn1067Lys) c.3126C>G (p.Asn1042Lys) c.2076C>G (p.Asn692Lys) c.2100C>G (p.Asn700Lys) c.2151C>G (p.Asn717Lys) c.1878C>G (p.Asn626Lys) c.2202C>G (p.Asn734Lys) c.2112C>G (p.Asn704Lys) c.2103C>G (p.Asn701Lys) | |
3 | g.123291314G= | CA1398330436 | ADCY5 | c.1803C= (p.Asn601=) c.2091C= (p.Asn697=) n.1529C= c.3201C= (p.Asn1067=) c.3126C= (p.Asn1042=) c.2076C= (p.Asn692=) c.2100C= (p.Asn700=) c.2151C= (p.Asn717=) c.1878C= (p.Asn626=) c.2202C= (p.Asn734=) c.2112C= (p.Asn704=) c.2103C= (p.Asn701=) | |
3 | g.123291314G>T | CA354223761 | ADCY5 | c.1803C>A (p.Asn601Lys) c.2091C>A (p.Asn697Lys) n.1529C>A c.3201C>A (p.Asn1067Lys) c.3126C>A (p.Asn1042Lys) c.2076C>A (p.Asn692Lys) c.2100C>A (p.Asn700Lys) c.2151C>A (p.Asn717Lys) c.1878C>A (p.Asn626Lys) c.2202C>A (p.Asn734Lys) c.2112C>A (p.Asn704Lys) c.2103C>A (p.Asn701Lys) | |
3 | g.123291315T>A | CA354223763 | ADCY5 | c.1802A>T (p.Asn601Ile) c.2090A>T (p.Asn697Ile) n.1528A>T c.3200A>T (p.Asn1067Ile) c.3125A>T (p.Asn1042Ile) c.2075A>T (p.Asn692Ile) c.2099A>T (p.Asn700Ile) c.2150A>T (p.Asn717Ile) c.1877A>T (p.Asn626Ile) c.2201A>T (p.Asn734Ile) c.2111A>T (p.Asn704Ile) c.2102A>T (p.Asn701Ile) | |
3 | g.123291315T>C | CA354223764 | ADCY5 | c.1802A>G (p.Asn601Ser) c.2090A>G (p.Asn697Ser) n.1528A>G c.3200A>G (p.Asn1067Ser) c.3125A>G (p.Asn1042Ser) c.2075A>G (p.Asn692Ser) c.2099A>G (p.Asn700Ser) c.2150A>G (p.Asn717Ser) c.1877A>G (p.Asn626Ser) c.2201A>G (p.Asn734Ser) c.2111A>G (p.Asn704Ser) c.2102A>G (p.Asn701Ser) | |
3 | g.123291315T>G | CA354223762 | ADCY5 | c.1802A>C (p.Asn601Thr) c.2090A>C (p.Asn697Thr) n.1528A>C c.3200A>C (p.Asn1067Thr) c.3125A>C (p.Asn1042Thr) c.2075A>C (p.Asn692Thr) c.2099A>C (p.Asn700Thr) c.2150A>C (p.Asn717Thr) c.1877A>C (p.Asn626Thr) c.2201A>C (p.Asn734Thr) c.2111A>C (p.Asn704Thr) c.2102A>C (p.Asn701Thr) | |
3 | g.123291316T>A | CA354223767 | ADCY5 | c.1801A>T (p.Asn601Tyr) c.2089A>T (p.Asn697Tyr) n.1527A>T c.3199A>T (p.Asn1067Tyr) c.3124A>T (p.Asn1042Tyr) c.2074A>T (p.Asn692Tyr) c.2098A>T (p.Asn700Tyr) c.2149A>T (p.Asn717Tyr) c.1876A>T (p.Asn626Tyr) c.2200A>T (p.Asn734Tyr) c.2110A>T (p.Asn704Tyr) c.2101A>T (p.Asn701Tyr) | |
3 | g.123291316T>C | CA354223765 | ADCY5 | c.1801A>G (p.Asn601Asp) c.2089A>G (p.Asn697Asp) n.1527A>G c.3199A>G (p.Asn1067Asp) c.3124A>G (p.Asn1042Asp) c.2074A>G (p.Asn692Asp) c.2098A>G (p.Asn700Asp) c.2149A>G (p.Asn717Asp) c.1876A>G (p.Asn626Asp) c.2200A>G (p.Asn734Asp) c.2110A>G (p.Asn704Asp) c.2101A>G (p.Asn701Asp) | |
3 | g.123291316T>G | CA354223766 | ADCY5 | c.1801A>C (p.Asn601His) c.2089A>C (p.Asn697His) n.1527A>C c.3199A>C (p.Asn1067His) c.3124A>C (p.Asn1042His) c.2074A>C (p.Asn692His) c.2098A>C (p.Asn700His) c.2149A>C (p.Asn717His) c.1876A>C (p.Asn626His) c.2200A>C (p.Asn734His) c.2110A>C (p.Asn704His) c.2101A>C (p.Asn701His) | |
3 | g.123291317G>A | CA435431288 | ADCY5 | c.1800C>T (p.His600=) c.2088C>T (p.His696=) n.1526C>T c.3198C>T (p.His1066=) c.3123C>T (p.His1041=) c.2073C>T (p.His691=) c.2097C>T (p.His699=) c.2148C>T (p.His716=) c.1875C>T (p.His625=) c.2199C>T (p.His733=) c.2109C>T (p.His703=) c.2100C>T (p.His700=) | |
3 | g.123291317G>C | CA354223768 | ADCY5 | c.1800C>G (p.His600Gln) c.2088C>G (p.His696Gln) n.1526C>G c.3198C>G (p.His1066Gln) c.3123C>G (p.His1041Gln) c.2073C>G (p.His691Gln) c.2097C>G (p.His699Gln) c.2148C>G (p.His716Gln) c.1875C>G (p.His625Gln) c.2199C>G (p.His733Gln) c.2109C>G (p.His703Gln) c.2100C>G (p.His700Gln) | |
3 | g.123291317G>T | CA354223769 | ADCY5 | c.1800C>A (p.His600Gln) c.2088C>A (p.His696Gln) n.1526C>A c.3198C>A (p.His1066Gln) c.3123C>A (p.His1041Gln) c.2073C>A (p.His691Gln) c.2097C>A (p.His699Gln) c.2148C>A (p.His716Gln) c.1875C>A (p.His625Gln) c.2199C>A (p.His733Gln) c.2109C>A (p.His703Gln) c.2100C>A (p.His700Gln) | |
3 | g.123291318T>A | CA354223770 | ADCY5 | c.1799A>T (p.His600Leu) c.2087A>T (p.His696Leu) n.1525A>T c.3197A>T (p.His1066Leu) c.3122A>T (p.His1041Leu) c.2072A>T (p.His691Leu) c.2096A>T (p.His699Leu) c.2147A>T (p.His716Leu) c.1874A>T (p.His625Leu) c.2198A>T (p.His733Leu) c.2108A>T (p.His703Leu) c.2099A>T (p.His700Leu) | |
3 | g.123291318T>C | CA354223771 | ADCY5 | c.1799A>G (p.His600Arg) c.2087A>G (p.His696Arg) n.1525A>G c.3197A>G (p.His1066Arg) c.3122A>G (p.His1041Arg) c.2072A>G (p.His691Arg) c.2096A>G (p.His699Arg) c.2147A>G (p.His716Arg) c.1874A>G (p.His625Arg) c.2198A>G (p.His733Arg) c.2108A>G (p.His703Arg) c.2099A>G (p.His700Arg) | |
3 | g.123291318T>G | CA354223772 | ADCY5 | c.1799A>C (p.His600Pro) c.2087A>C (p.His696Pro) n.1525A>C c.3197A>C (p.His1066Pro) c.3122A>C (p.His1041Pro) c.2072A>C (p.His691Pro) c.2096A>C (p.His699Pro) c.2147A>C (p.His716Pro) c.1874A>C (p.His625Pro) c.2198A>C (p.His733Pro) c.2108A>C (p.His703Pro) c.2099A>C (p.His700Pro) | |
3 | g.123291319G>A | CA354223773 | ADCY5 | c.1798C>T (p.His600Tyr) c.2086C>T (p.His696Tyr) n.1524C>T c.3196C>T (p.His1066Tyr) c.3121C>T (p.His1041Tyr) c.2071C>T (p.His691Tyr) c.2095C>T (p.His699Tyr) c.2146C>T (p.His716Tyr) c.1873C>T (p.His625Tyr) c.2197C>T (p.His733Tyr) c.2107C>T (p.His703Tyr) c.2098C>T (p.His700Tyr) | |
3 | g.123291319G>C | CA354223774 | ADCY5 | c.1798C>G (p.His600Asp) c.2086C>G (p.His696Asp) n.1524C>G c.3196C>G (p.His1066Asp) c.3121C>G (p.His1041Asp) c.2071C>G (p.His691Asp) c.2095C>G (p.His699Asp) c.2146C>G (p.His716Asp) c.1873C>G (p.His625Asp) c.2197C>G (p.His733Asp) c.2107C>G (p.His703Asp) c.2098C>G (p.His700Asp) | |
3 | g.123291319G>T | CA354223775 | ADCY5 | c.1798C>A (p.His600Asn) c.2086C>A (p.His696Asn) n.1524C>A c.3196C>A (p.His1066Asn) c.3121C>A (p.His1041Asn) c.2071C>A (p.His691Asn) c.2095C>A (p.His699Asn) c.2146C>A (p.His716Asn) c.1873C>A (p.His625Asn) c.2197C>A (p.His733Asn) c.2107C>A (p.His703Asn) c.2098C>A (p.His700Asn) | |
3 | g.123291320C>A | CA435431293 | ADCY5 | c.1797G>T (p.Leu599=) c.2085G>T (p.Leu695=) n.1523G>T c.3195G>T (p.Leu1065=) c.3120G>T (p.Leu1040=) c.2070G>T (p.Leu690=) c.2094G>T (p.Leu698=) c.2145G>T (p.Leu715=) c.1872G>T (p.Leu624=) c.2196G>T (p.Leu732=) c.2106G>T (p.Leu702=) c.2097G>T (p.Leu699=) | |
3 | g.123291320C= | CA1398330437 | ADCY5 | c.1797G= (p.Leu599=) c.2085G= (p.Leu695=) n.1523G= c.3195G= (p.Leu1065=) c.3120G= (p.Leu1040=) c.2070G= (p.Leu690=) c.2094G= (p.Leu698=) c.2145G= (p.Leu715=) c.1872G= (p.Leu624=) c.2196G= (p.Leu732=) c.2106G= (p.Leu702=) c.2097G= (p.Leu699=) | |
3 | g.123291320C>G | CA435431294 | ADCY5 | c.1797G>C (p.Leu599=) c.2085G>C (p.Leu695=) n.1523G>C c.3195G>C (p.Leu1065=) c.3120G>C (p.Leu1040=) c.2070G>C (p.Leu690=) c.2094G>C (p.Leu698=) c.2145G>C (p.Leu715=) c.1872G>C (p.Leu624=) c.2196G>C (p.Leu732=) c.2106G>C (p.Leu702=) c.2097G>C (p.Leu699=) | |
3 | g.123291320C>T | CA435431295 | ADCY5 | c.1797G>A (p.Leu599=) c.2085G>A (p.Leu695=) n.1523G>A c.3195G>A (p.Leu1065=) c.3120G>A (p.Leu1040=) c.2070G>A (p.Leu690=) c.2094G>A (p.Leu698=) c.2145G>A (p.Leu715=) c.1872G>A (p.Leu624=) c.2196G>A (p.Leu732=) c.2106G>A (p.Leu702=) c.2097G>A (p.Leu699=) | dbSNP |
3 | g.123291321A>C | CA354223776 | ADCY5 | c.1796T>G (p.Leu599Arg) c.2084T>G (p.Leu695Arg) n.1522T>G c.3194T>G (p.Leu1065Arg) c.3119T>G (p.Leu1040Arg) c.2069T>G (p.Leu690Arg) c.2093T>G (p.Leu698Arg) c.2144T>G (p.Leu715Arg) c.1871T>G (p.Leu624Arg) c.2195T>G (p.Leu732Arg) c.2105T>G (p.Leu702Arg) c.2096T>G (p.Leu699Arg) | |
3 | g.123291321A>G | CA354223777 | ADCY5 | c.1796T>C (p.Leu599Pro) c.2084T>C (p.Leu695Pro) n.1522T>C c.3194T>C (p.Leu1065Pro) c.3119T>C (p.Leu1040Pro) c.2069T>C (p.Leu690Pro) c.2093T>C (p.Leu698Pro) c.2144T>C (p.Leu715Pro) c.1871T>C (p.Leu624Pro) c.2195T>C (p.Leu732Pro) c.2105T>C (p.Leu702Pro) c.2096T>C (p.Leu699Pro) | ClinVar dbSNP |
3 | g.123291321A>T | CA354223778 | ADCY5 | c.1796T>A (p.Leu599Gln) c.2084T>A (p.Leu695Gln) n.1522T>A c.3194T>A (p.Leu1065Gln) c.3119T>A (p.Leu1040Gln) c.2069T>A (p.Leu690Gln) c.2093T>A (p.Leu698Gln) c.2144T>A (p.Leu715Gln) c.1871T>A (p.Leu624Gln) c.2195T>A (p.Leu732Gln) c.2105T>A (p.Leu702Gln) c.2096T>A (p.Leu699Gln) | |
3 | g.123291322G>A | CA2576846 | ADCY5 | c.1795C>T (p.Leu599=) c.2083C>T (p.Leu695=) n.1521C>T c.3193C>T (p.Leu1065=) c.3118C>T (p.Leu1040=) c.2068C>T (p.Leu690=) c.2092C>T (p.Leu698=) c.2143C>T (p.Leu715=) c.1870C>T (p.Leu624=) c.2194C>T (p.Leu732=) c.2104C>T (p.Leu702=) c.2095C>T (p.Leu699=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.123291322G>C | CA354223780 | ADCY5 | c.1795C>G (p.Leu599Val) c.2083C>G (p.Leu695Val) n.1521C>G c.3193C>G (p.Leu1065Val) c.3118C>G (p.Leu1040Val) c.2068C>G (p.Leu690Val) c.2092C>G (p.Leu698Val) c.2143C>G (p.Leu715Val) c.1870C>G (p.Leu624Val) c.2194C>G (p.Leu732Val) c.2104C>G (p.Leu702Val) c.2095C>G (p.Leu699Val) | |
3 | g.123291322G= | CA1398330438 | ADCY5 | c.1795C= (p.Leu599=) c.2083C= (p.Leu695=) n.1521C= c.3193C= (p.Leu1065=) c.3118C= (p.Leu1040=) c.2068C= (p.Leu690=) c.2092C= (p.Leu698=) c.2143C= (p.Leu715=) c.1870C= (p.Leu624=) c.2194C= (p.Leu732=) c.2104C= (p.Leu702=) c.2095C= (p.Leu699=) | |
3 | g.123291322G>T | CA354223779 | ADCY5 | c.1795C>A (p.Leu599Met) c.2083C>A (p.Leu695Met) n.1521C>A c.3193C>A (p.Leu1065Met) c.3118C>A (p.Leu1040Met) c.2068C>A (p.Leu690Met) c.2092C>A (p.Leu698Met) c.2143C>A (p.Leu715Met) c.1870C>A (p.Leu624Met) c.2194C>A (p.Leu732Met) c.2104C>A (p.Leu702Met) c.2095C>A (p.Leu699Met) | |
3 | g.123291323C>A | CA435431298 | ADCY5 | c.1794G>T (p.Leu598=) c.2082G>T (p.Leu694=) n.1520G>T c.3192G>T (p.Leu1064=) c.3117G>T (p.Leu1039=) c.2067G>T (p.Leu689=) c.2091G>T (p.Leu697=) c.2142G>T (p.Leu714=) c.1869G>T (p.Leu623=) c.2193G>T (p.Leu731=) c.2103G>T (p.Leu701=) c.2094G>T (p.Leu698=) | |
3 | g.123291323C= | CA1398330439 | ADCY5 | c.1794G= (p.Leu598=) c.2082G= (p.Leu694=) n.1520G= c.3192G= (p.Leu1064=) c.3117G= (p.Leu1039=) c.2067G= (p.Leu689=) c.2091G= (p.Leu697=) c.2142G= (p.Leu714=) c.1869G= (p.Leu623=) c.2193G= (p.Leu731=) c.2103G= (p.Leu701=) c.2094G= (p.Leu698=) | |
3 | g.123291323C>G | CA435431299 | ADCY5 | c.1794G>C (p.Leu598=) c.2082G>C (p.Leu694=) n.1520G>C c.3192G>C (p.Leu1064=) c.3117G>C (p.Leu1039=) c.2067G>C (p.Leu689=) c.2091G>C (p.Leu697=) c.2142G>C (p.Leu714=) c.1869G>C (p.Leu623=) c.2193G>C (p.Leu731=) c.2103G>C (p.Leu701=) c.2094G>C (p.Leu698=) | |
3 | g.123291323C>T | CA435431300 | ADCY5 | c.1794G>A (p.Leu598=) c.2082G>A (p.Leu694=) n.1520G>A c.3192G>A (p.Leu1064=) c.3117G>A (p.Leu1039=) c.2067G>A (p.Leu689=) c.2091G>A (p.Leu697=) c.2142G>A (p.Leu714=) c.1869G>A (p.Leu623=) c.2193G>A (p.Leu731=) c.2103G>A (p.Leu701=) c.2094G>A (p.Leu698=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.123291324A>C | CA354223781 | ADCY5 | c.1793T>G (p.Leu598Arg) c.2081T>G (p.Leu694Arg) n.1519T>G c.3191T>G (p.Leu1064Arg) c.3116T>G (p.Leu1039Arg) c.2066T>G (p.Leu689Arg) c.2090T>G (p.Leu697Arg) c.2141T>G (p.Leu714Arg) c.1868T>G (p.Leu623Arg) c.2192T>G (p.Leu731Arg) c.2102T>G (p.Leu701Arg) c.2093T>G (p.Leu698Arg) | gnomAD v4 |
3 | g.123291324A>G | CA354223782 | ADCY5 | c.1793T>C (p.Leu598Pro) c.2081T>C (p.Leu694Pro) n.1519T>C c.3191T>C (p.Leu1064Pro) c.3116T>C (p.Leu1039Pro) c.2066T>C (p.Leu689Pro) c.2090T>C (p.Leu697Pro) c.2141T>C (p.Leu714Pro) c.1868T>C (p.Leu623Pro) c.2192T>C (p.Leu731Pro) c.2102T>C (p.Leu701Pro) c.2093T>C (p.Leu698Pro) | |
3 | g.123291324A>T | CA354223783 | ADCY5 | c.1793T>A (p.Leu598Gln) c.2081T>A (p.Leu694Gln) n.1519T>A c.3191T>A (p.Leu1064Gln) c.3116T>A (p.Leu1039Gln) c.2066T>A (p.Leu689Gln) c.2090T>A (p.Leu697Gln) c.2141T>A (p.Leu714Gln) c.1868T>A (p.Leu623Gln) c.2192T>A (p.Leu731Gln) c.2102T>A (p.Leu701Gln) c.2093T>A (p.Leu698Gln) | |
3 | g.123291325G>A | CA435431302 | ADCY5 | c.1792C>T (p.Leu598=) c.2080C>T (p.Leu694=) n.1518C>T c.3190C>T (p.Leu1064=) c.3115C>T (p.Leu1039=) c.2065C>T (p.Leu689=) c.2089C>T (p.Leu697=) c.2140C>T (p.Leu714=) c.1867C>T (p.Leu623=) c.2191C>T (p.Leu731=) c.2101C>T (p.Leu701=) c.2092C>T (p.Leu698=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.123291325G>C | CA354223784 | ADCY5 | c.1792C>G (p.Leu598Val) c.2080C>G (p.Leu694Val) n.1518C>G c.3190C>G (p.Leu1064Val) c.3115C>G (p.Leu1039Val) c.2065C>G (p.Leu689Val) c.2089C>G (p.Leu697Val) c.2140C>G (p.Leu714Val) c.1867C>G (p.Leu623Val) c.2191C>G (p.Leu731Val) c.2101C>G (p.Leu701Val) c.2092C>G (p.Leu698Val) | |
3 | g.123291325G= | CA1398330440 | ADCY5 | c.1792C= (p.Leu598=) c.2080C= (p.Leu694=) n.1518C= c.3190C= (p.Leu1064=) c.3115C= (p.Leu1039=) c.2065C= (p.Leu689=) c.2089C= (p.Leu697=) c.2140C= (p.Leu714=) c.1867C= (p.Leu623=) c.2191C= (p.Leu731=) c.2101C= (p.Leu701=) c.2092C= (p.Leu698=) | |
3 | g.123291325G>T | CA354223785 | ADCY5 | c.1792C>A (p.Leu598Met) c.2080C>A (p.Leu694Met) n.1518C>A c.3190C>A (p.Leu1064Met) c.3115C>A (p.Leu1039Met) c.2065C>A (p.Leu689Met) c.2089C>A (p.Leu697Met) c.2140C>A (p.Leu714Met) c.1867C>A (p.Leu623Met) c.2191C>A (p.Leu731Met) c.2101C>A (p.Leu701Met) c.2092C>A (p.Leu698Met) | |
3 | g.123291326C>A | CA435431304 | ADCY5 | c.1791G>T (p.Arg597=) c.2079G>T (p.Arg693=) n.1517G>T c.3189G>T (p.Arg1063=) c.3114G>T (p.Arg1038=) c.2064G>T (p.Arg688=) c.2088G>T (p.Arg696=) c.2139G>T (p.Arg713=) c.1866G>T (p.Arg622=) c.2190G>T (p.Arg730=) c.2100G>T (p.Arg700=) c.2091G>T (p.Arg697=) | |
3 | g.123291326C>G | CA435431305 | ADCY5 | c.1791G>C (p.Arg597=) c.2079G>C (p.Arg693=) n.1517G>C c.3189G>C (p.Arg1063=) c.3114G>C (p.Arg1038=) c.2064G>C (p.Arg688=) c.2088G>C (p.Arg696=) c.2139G>C (p.Arg713=) c.1866G>C (p.Arg622=) c.2190G>C (p.Arg730=) c.2100G>C (p.Arg700=) c.2091G>C (p.Arg697=) | |
3 | g.123291326C>T | CA435431306 | ADCY5 | c.1791G>A (p.Arg597=) c.2079G>A (p.Arg693=) n.1517G>A c.3189G>A (p.Arg1063=) c.3114G>A (p.Arg1038=) c.2064G>A (p.Arg688=) c.2088G>A (p.Arg696=) c.2139G>A (p.Arg713=) c.1866G>A (p.Arg622=) c.2190G>A (p.Arg730=) c.2100G>A (p.Arg700=) c.2091G>A (p.Arg697=) | |
3 | g.123291327C>A | CA354223786 | ADCY5 | c.1790G>T (p.Arg597Leu) c.2078G>T (p.Arg693Leu) n.1516G>T c.3188G>T (p.Arg1063Leu) c.3113G>T (p.Arg1038Leu) c.2063G>T (p.Arg688Leu) c.2087G>T (p.Arg696Leu) c.2138G>T (p.Arg713Leu) c.1865G>T (p.Arg622Leu) c.2189G>T (p.Arg730Leu) c.2099G>T (p.Arg700Leu) c.2090G>T (p.Arg697Leu) | |
3 | g.123291327C= | CA1398330441 | ADCY5 | c.1790G= (p.Arg597=) c.2078G= (p.Arg693=) n.1516G= c.3188G= (p.Arg1063=) c.3113G= (p.Arg1038=) c.2063G= (p.Arg688=) c.2087G= (p.Arg696=) c.2138G= (p.Arg713=) c.1865G= (p.Arg622=) c.2189G= (p.Arg730=) c.2099G= (p.Arg700=) c.2090G= (p.Arg697=) | |
3 | g.123291327C>G | CA354223787 | ADCY5 | c.1790G>C (p.Arg597Pro) c.2078G>C (p.Arg693Pro) n.1516G>C c.3188G>C (p.Arg1063Pro) c.3113G>C (p.Arg1038Pro) c.2063G>C (p.Arg688Pro) c.2087G>C (p.Arg696Pro) c.2138G>C (p.Arg713Pro) c.1865G>C (p.Arg622Pro) c.2189G>C (p.Arg730Pro) c.2099G>C (p.Arg700Pro) c.2090G>C (p.Arg697Pro) | |
3 | g.123291327C>T | CA354223788 | ADCY5 | c.1790G>A (p.Arg597Gln) c.2078G>A (p.Arg693Gln) n.1516G>A c.3188G>A (p.Arg1063Gln) c.3113G>A (p.Arg1038Gln) c.2063G>A (p.Arg688Gln) c.2087G>A (p.Arg696Gln) c.2138G>A (p.Arg713Gln) c.1865G>A (p.Arg622Gln) c.2189G>A (p.Arg730Gln) c.2099G>A (p.Arg700Gln) c.2090G>A (p.Arg697Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.123291328G>A | CA2576847 | ADCY5 | c.1789C>T (p.Arg597Trp) c.2077C>T (p.Arg693Trp) n.1515C>T c.3187C>T (p.Arg1063Trp) c.3112C>T (p.Arg1038Trp) c.2062C>T (p.Arg688Trp) c.2086C>T (p.Arg696Trp) c.2137C>T (p.Arg713Trp) c.1864C>T (p.Arg622Trp) c.2188C>T (p.Arg730Trp) c.2098C>T (p.Arg700Trp) c.2089C>T (p.Arg697Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.123291328G>C | CA354223789 | ADCY5 | c.1789C>G (p.Arg597Gly) c.2077C>G (p.Arg693Gly) n.1515C>G c.3187C>G (p.Arg1063Gly) c.3112C>G (p.Arg1038Gly) c.2062C>G (p.Arg688Gly) c.2086C>G (p.Arg696Gly) c.2137C>G (p.Arg713Gly) c.1864C>G (p.Arg622Gly) c.2188C>G (p.Arg730Gly) c.2098C>G (p.Arg700Gly) c.2089C>G (p.Arg697Gly) | |
3 | g.123291328G= | CA1398330442 | ADCY5 | c.1789C= (p.Arg597=) c.2077C= (p.Arg693=) n.1515C= c.3187C= (p.Arg1063=) c.3112C= (p.Arg1038=) c.2062C= (p.Arg688=) c.2086C= (p.Arg696=) c.2137C= (p.Arg713=) c.1864C= (p.Arg622=) c.2188C= (p.Arg730=) c.2098C= (p.Arg700=) c.2089C= (p.Arg697=) | |
3 | g.123291328G>T | CA435431310 | ADCY5 | c.1789C>A (p.Arg597=) c.2077C>A (p.Arg693=) n.1515C>A c.3187C>A (p.Arg1063=) c.3112C>A (p.Arg1038=) c.2062C>A (p.Arg688=) c.2086C>A (p.Arg696=) c.2137C>A (p.Arg713=) c.1864C>A (p.Arg622=) c.2188C>A (p.Arg730=) c.2098C>A (p.Arg700=) c.2089C>A (p.Arg697=) | |
3 | g.123291329C>A | CA435431312 | ADCY5 | c.1788G>T (p.Arg596=) c.2076G>T (p.Arg692=) n.1514G>T c.3186G>T (p.Arg1062=) c.3111G>T (p.Arg1037=) c.2061G>T (p.Arg687=) c.2085G>T (p.Arg695=) c.2136G>T (p.Arg712=) c.1863G>T (p.Arg621=) c.2187G>T (p.Arg729=) c.2097G>T (p.Arg699=) c.2088G>T (p.Arg696=) | gnomAD v4 |
3 | g.123291329C= | CA1398330443 | ADCY5 | c.1788G= (p.Arg596=) c.2076G= (p.Arg692=) n.1514G= c.3186G= (p.Arg1062=) c.3111G= (p.Arg1037=) c.2061G= (p.Arg687=) c.2085G= (p.Arg695=) c.2136G= (p.Arg712=) c.1863G= (p.Arg621=) c.2187G= (p.Arg729=) c.2097G= (p.Arg699=) c.2088G= (p.Arg696=) | |
3 | g.123291329C>G | CA435431315 | ADCY5 | c.1788G>C (p.Arg596=) c.2076G>C (p.Arg692=) n.1514G>C c.3186G>C (p.Arg1062=) c.3111G>C (p.Arg1037=) c.2061G>C (p.Arg687=) c.2085G>C (p.Arg695=) c.2136G>C (p.Arg712=) c.1863G>C (p.Arg621=) c.2187G>C (p.Arg729=) c.2097G>C (p.Arg699=) c.2088G>C (p.Arg696=) | |
3 | g.123291329C>T | CA2576848 | ADCY5 | c.1788G>A (p.Arg596=) c.2076G>A (p.Arg692=) n.1514G>A c.3186G>A (p.Arg1062=) c.3111G>A (p.Arg1037=) c.2061G>A (p.Arg687=) c.2085G>A (p.Arg695=) c.2136G>A (p.Arg712=) c.1863G>A (p.Arg621=) c.2187G>A (p.Arg729=) c.2097G>A (p.Arg699=) c.2088G>A (p.Arg696=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.123291330C>A | CA354223791 | ADCY5 | c.1787G>T (p.Arg596Leu) c.2075G>T (p.Arg692Leu) n.1513G>T c.3185G>T (p.Arg1062Leu) c.3110G>T (p.Arg1037Leu) c.2060G>T (p.Arg687Leu) c.2084G>T (p.Arg695Leu) c.2135G>T (p.Arg712Leu) c.1862G>T (p.Arg621Leu) c.2186G>T (p.Arg729Leu) c.2096G>T (p.Arg699Leu) c.2087G>T (p.Arg696Leu) | |
3 | g.123291330C= | CA1398330444 | ADCY5 | c.1787G= (p.Arg596=) c.2075G= (p.Arg692=) n.1513G= c.3185G= (p.Arg1062=) c.3110G= (p.Arg1037=) c.2060G= (p.Arg687=) c.2084G= (p.Arg695=) c.2135G= (p.Arg712=) c.1862G= (p.Arg621=) c.2186G= (p.Arg729=) c.2096G= (p.Arg699=) c.2087G= (p.Arg696=) | |
3 | g.123291330C>G | CA354223792 | ADCY5 | c.1787G>C (p.Arg596Pro) c.2075G>C (p.Arg692Pro) n.1513G>C c.3185G>C (p.Arg1062Pro) c.3110G>C (p.Arg1037Pro) c.2060G>C (p.Arg687Pro) c.2084G>C (p.Arg695Pro) c.2135G>C (p.Arg712Pro) c.1862G>C (p.Arg621Pro) c.2186G>C (p.Arg729Pro) c.2096G>C (p.Arg699Pro) c.2087G>C (p.Arg696Pro) | gnomAD v4 |
3 | g.123291330C>T | CA354223790 | ADCY5 | c.1787G>A (p.Arg596Gln) c.2075G>A (p.Arg692Gln) n.1513G>A c.3185G>A (p.Arg1062Gln) c.3110G>A (p.Arg1037Gln) c.2060G>A (p.Arg687Gln) c.2084G>A (p.Arg695Gln) c.2135G>A (p.Arg712Gln) c.1862G>A (p.Arg621Gln) c.2186G>A (p.Arg729Gln) c.2096G>A (p.Arg699Gln) c.2087G>A (p.Arg696Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.123291331G>A | CA2576849 | ADCY5 | c.1786C>T (p.Arg596Trp) c.2074C>T (p.Arg692Trp) n.1512C>T c.3184C>T (p.Arg1062Trp) c.3109C>T (p.Arg1037Trp) c.2059C>T (p.Arg687Trp) c.2083C>T (p.Arg695Trp) c.2134C>T (p.Arg712Trp) c.1861C>T (p.Arg621Trp) c.2185C>T (p.Arg729Trp) c.2095C>T (p.Arg699Trp) c.2086C>T (p.Arg696Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.123291331G>C | CA354223793 | ADCY5 | c.1786C>G (p.Arg596Gly) c.2074C>G (p.Arg692Gly) n.1512C>G c.3184C>G (p.Arg1062Gly) c.3109C>G (p.Arg1037Gly) c.2059C>G (p.Arg687Gly) c.2083C>G (p.Arg695Gly) c.2134C>G (p.Arg712Gly) c.1861C>G (p.Arg621Gly) c.2185C>G (p.Arg729Gly) c.2095C>G (p.Arg699Gly) c.2086C>G (p.Arg696Gly) | |
3 | g.123291331G= | CA1398330445 | ADCY5 | c.1786C= (p.Arg596=) c.2074C= (p.Arg692=) n.1512C= c.3184C= (p.Arg1062=) c.3109C= (p.Arg1037=) c.2059C= (p.Arg687=) c.2083C= (p.Arg695=) c.2134C= (p.Arg712=) c.1861C= (p.Arg621=) c.2185C= (p.Arg729=) c.2095C= (p.Arg699=) c.2086C= (p.Arg696=) | |
3 | g.123291331G>T | CA2576850 | ADCY5 | c.1786C>A (p.Arg596=) c.2074C>A (p.Arg692=) n.1512C>A c.3184C>A (p.Arg1062=) c.3109C>A (p.Arg1037=) c.2059C>A (p.Arg687=) c.2083C>A (p.Arg695=) c.2134C>A (p.Arg712=) c.1861C>A (p.Arg621=) c.2185C>A (p.Arg729=) c.2095C>A (p.Arg699=) c.2086C>A (p.Arg696=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.123291332G>A | CA435431321 | ADCY5 | c.1785C>T (p.Asn595=) c.2073C>T (p.Asn691=) n.1511C>T c.3183C>T (p.Asn1061=) c.3108C>T (p.Asn1036=) c.2058C>T (p.Asn686=) c.2082C>T (p.Asn694=) c.2133C>T (p.Asn711=) c.1860C>T (p.Asn620=) c.2184C>T (p.Asn728=) c.2094C>T (p.Asn698=) c.2085C>T (p.Asn695=) | |
3 | g.123291332G>C | CA354223794 | ADCY5 | c.1785C>G (p.Asn595Lys) c.2073C>G (p.Asn691Lys) n.1511C>G c.3183C>G (p.Asn1061Lys) c.3108C>G (p.Asn1036Lys) c.2058C>G (p.Asn686Lys) c.2082C>G (p.Asn694Lys) c.2133C>G (p.Asn711Lys) c.1860C>G (p.Asn620Lys) c.2184C>G (p.Asn728Lys) c.2094C>G (p.Asn698Lys) c.2085C>G (p.Asn695Lys) | |
3 | g.123291332G>T | CA354223795 | ADCY5 | c.1785C>A (p.Asn595Lys) c.2073C>A (p.Asn691Lys) n.1511C>A c.3183C>A (p.Asn1061Lys) c.3108C>A (p.Asn1036Lys) c.2058C>A (p.Asn686Lys) c.2082C>A (p.Asn694Lys) c.2133C>A (p.Asn711Lys) c.1860C>A (p.Asn620Lys) c.2184C>A (p.Asn728Lys) c.2094C>A (p.Asn698Lys) c.2085C>A (p.Asn695Lys) | |
3 | g.123291333T>A | CA354223796 | ADCY5 | c.1784A>T (p.Asn595Ile) c.2072A>T (p.Asn691Ile) n.1510A>T c.3182A>T (p.Asn1061Ile) c.3107A>T (p.Asn1036Ile) c.2057A>T (p.Asn686Ile) c.2081A>T (p.Asn694Ile) c.2132A>T (p.Asn711Ile) c.1859A>T (p.Asn620Ile) c.2183A>T (p.Asn728Ile) c.2093A>T (p.Asn698Ile) c.2084A>T (p.Asn695Ile) | |
3 | g.123291333T>C | CA354223797 | ADCY5 | c.1784A>G (p.Asn595Ser) c.2072A>G (p.Asn691Ser) n.1510A>G c.3182A>G (p.Asn1061Ser) c.3107A>G (p.Asn1036Ser) c.2057A>G (p.Asn686Ser) c.2081A>G (p.Asn694Ser) c.2132A>G (p.Asn711Ser) c.1859A>G (p.Asn620Ser) c.2183A>G (p.Asn728Ser) c.2093A>G (p.Asn698Ser) c.2084A>G (p.Asn695Ser) | |
3 | g.123291333T>G | CA354223798 | ADCY5 | c.1784A>C (p.Asn595Thr) c.2072A>C (p.Asn691Thr) n.1510A>C c.3182A>C (p.Asn1061Thr) c.3107A>C (p.Asn1036Thr) c.2057A>C (p.Asn686Thr) c.2081A>C (p.Asn694Thr) c.2132A>C (p.Asn711Thr) c.1859A>C (p.Asn620Thr) c.2183A>C (p.Asn728Thr) c.2093A>C (p.Asn698Thr) c.2084A>C (p.Asn695Thr) | |
3 | g.123291334T>A | CA354223799 | ADCY5 | c.1783A>T (p.Asn595Tyr) c.2071A>T (p.Asn691Tyr) n.1509A>T c.3181A>T (p.Asn1061Tyr) c.3106A>T (p.Asn1036Tyr) c.2056A>T (p.Asn686Tyr) c.2080A>T (p.Asn694Tyr) c.2131A>T (p.Asn711Tyr) c.1858A>T (p.Asn620Tyr) c.2182A>T (p.Asn728Tyr) c.2092A>T (p.Asn698Tyr) c.2083A>T (p.Asn695Tyr) | |
3 | g.123291334T>C | CA354223800 | ADCY5 | c.1783A>G (p.Asn595Asp) c.2071A>G (p.Asn691Asp) n.1509A>G c.3181A>G (p.Asn1061Asp) c.3106A>G (p.Asn1036Asp) c.2056A>G (p.Asn686Asp) c.2080A>G (p.Asn694Asp) c.2131A>G (p.Asn711Asp) c.1858A>G (p.Asn620Asp) c.2182A>G (p.Asn728Asp) c.2092A>G (p.Asn698Asp) c.2083A>G (p.Asn695Asp) | |
3 | g.123291334T>G | CA354223801 | ADCY5 | c.1783A>C (p.Asn595His) c.2071A>C (p.Asn691His) n.1509A>C c.3181A>C (p.Asn1061His) c.3106A>C (p.Asn1036His) c.2056A>C (p.Asn686His) c.2080A>C (p.Asn694His) c.2131A>C (p.Asn711His) c.1858A>C (p.Asn620His) c.2182A>C (p.Asn728His) c.2092A>C (p.Asn698His) c.2083A>C (p.Asn695His) | |
3 | g.123291335G>A | CA435431328 | ADCY5 | c.1782C>T (p.Tyr594=) c.2070C>T (p.Tyr690=) n.1508C>T c.3180C>T (p.Tyr1060=) c.3105C>T (p.Tyr1035=) c.2055C>T (p.Tyr685=) c.2079C>T (p.Tyr693=) c.2130C>T (p.Tyr710=) c.1857C>T (p.Tyr619=) c.2181C>T (p.Tyr727=) c.2091C>T (p.Tyr697=) c.2082C>T (p.Tyr694=) | |
3 | g.123291335G>C | CA354223802 | ADCY5 | c.1782C>G (p.Tyr594Ter) c.2070C>G (p.Tyr690Ter) n.1508C>G c.3180C>G (p.Tyr1060Ter) c.3105C>G (p.Tyr1035Ter) c.2055C>G (p.Tyr685Ter) c.2079C>G (p.Tyr693Ter) c.2130C>G (p.Tyr710Ter) c.1857C>G (p.Tyr619Ter) c.2181C>G (p.Tyr727Ter) c.2091C>G (p.Tyr697Ter) c.2082C>G (p.Tyr694Ter) | |
3 | g.123291335G>T | CA354223803 | ADCY5 | c.1782C>A (p.Tyr594Ter) c.2070C>A (p.Tyr690Ter) n.1508C>A c.3180C>A (p.Tyr1060Ter) c.3105C>A (p.Tyr1035Ter) c.2055C>A (p.Tyr685Ter) c.2079C>A (p.Tyr693Ter) c.2130C>A (p.Tyr710Ter) c.1857C>A (p.Tyr619Ter) c.2181C>A (p.Tyr727Ter) c.2091C>A (p.Tyr697Ter) c.2082C>A (p.Tyr694Ter) | |
3 | g.123291336T>A | CA354223805 | ADCY5 | c.1781A>T (p.Tyr594Phe) c.2069A>T (p.Tyr690Phe) n.1507A>T c.3179A>T (p.Tyr1060Phe) c.3104A>T (p.Tyr1035Phe) c.2054A>T (p.Tyr685Phe) c.2078A>T (p.Tyr693Phe) c.2129A>T (p.Tyr710Phe) c.1856A>T (p.Tyr619Phe) c.2180A>T (p.Tyr727Phe) c.2090A>T (p.Tyr697Phe) c.2081A>T (p.Tyr694Phe) | |
3 | g.123291336T>C | CA354223806 | ADCY5 | c.1781A>G (p.Tyr594Cys) c.2069A>G (p.Tyr690Cys) n.1507A>G c.3179A>G (p.Tyr1060Cys) c.3104A>G (p.Tyr1035Cys) c.2054A>G (p.Tyr685Cys) c.2078A>G (p.Tyr693Cys) c.2129A>G (p.Tyr710Cys) c.1856A>G (p.Tyr619Cys) c.2180A>G (p.Tyr727Cys) c.2090A>G (p.Tyr697Cys) c.2081A>G (p.Tyr694Cys) | COSMIC |
3 | g.123291336T>G | CA354223804 | ADCY5 | c.1781A>C (p.Tyr594Ser) c.2069A>C (p.Tyr690Ser) n.1507A>C c.3179A>C (p.Tyr1060Ser) c.3104A>C (p.Tyr1035Ser) c.2054A>C (p.Tyr685Ser) c.2078A>C (p.Tyr693Ser) c.2129A>C (p.Tyr710Ser) c.1856A>C (p.Tyr619Ser) c.2180A>C (p.Tyr727Ser) c.2090A>C (p.Tyr697Ser) c.2081A>C (p.Tyr694Ser) | |
3 | g.123291337A>C | CA354223807 | ADCY5 | c.1780T>G (p.Tyr594Asp) c.2068T>G (p.Tyr690Asp) n.1506T>G c.3178T>G (p.Tyr1060Asp) c.3103T>G (p.Tyr1035Asp) c.2053T>G (p.Tyr685Asp) c.2077T>G (p.Tyr693Asp) c.2128T>G (p.Tyr710Asp) c.1855T>G (p.Tyr619Asp) c.2179T>G (p.Tyr727Asp) c.2089T>G (p.Tyr697Asp) c.2080T>G (p.Tyr694Asp) | |
3 | g.123291337A>G | CA354223808 | ADCY5 | c.1780T>C (p.Tyr594His) c.2068T>C (p.Tyr690His) n.1506T>C c.3178T>C (p.Tyr1060His) c.3103T>C (p.Tyr1035His) c.2053T>C (p.Tyr685His) c.2077T>C (p.Tyr693His) c.2128T>C (p.Tyr710His) c.1855T>C (p.Tyr619His) c.2179T>C (p.Tyr727His) c.2089T>C (p.Tyr697His) c.2080T>C (p.Tyr694His) | |
3 | g.123291337A>T | CA354223809 | ADCY5 | c.1780T>A (p.Tyr594Asn) c.2068T>A (p.Tyr690Asn) n.1506T>A c.3178T>A (p.Tyr1060Asn) c.3103T>A (p.Tyr1035Asn) c.2053T>A (p.Tyr685Asn) c.2077T>A (p.Tyr693Asn) c.2128T>A (p.Tyr710Asn) c.1855T>A (p.Tyr619Asn) c.2179T>A (p.Tyr727Asn) c.2089T>A (p.Tyr697Asn) c.2080T>A (p.Tyr694Asn) | |
3 | g.123291338G>A | CA435431336 | ADCY5 | c.1779C>T (p.Ala593=) c.2067C>T (p.Ala689=) n.1505C>T c.3177C>T (p.Ala1059=) c.3102C>T (p.Ala1034=) c.2052C>T (p.Ala684=) c.2076C>T (p.Ala692=) c.2127C>T (p.Ala709=) c.1854C>T (p.Ala618=) c.2178C>T (p.Ala726=) c.2088C>T (p.Ala696=) c.2079C>T (p.Ala693=) | gnomAD v4 |
3 | g.123291338G>C | CA435431335 | ADCY5 | c.1779C>G (p.Ala593=) c.2067C>G (p.Ala689=) n.1505C>G c.3177C>G (p.Ala1059=) c.3102C>G (p.Ala1034=) c.2052C>G (p.Ala684=) c.2076C>G (p.Ala692=) c.2127C>G (p.Ala709=) c.1854C>G (p.Ala618=) c.2178C>G (p.Ala726=) c.2088C>G (p.Ala696=) c.2079C>G (p.Ala693=) | |
3 | g.123291338G>T | CA435431334 | ADCY5 | c.1779C>A (p.Ala593=) c.2067C>A (p.Ala689=) n.1505C>A c.3177C>A (p.Ala1059=) c.3102C>A (p.Ala1034=) c.2052C>A (p.Ala684=) c.2076C>A (p.Ala692=) c.2127C>A (p.Ala709=) c.1854C>A (p.Ala618=) c.2178C>A (p.Ala726=) c.2088C>A (p.Ala696=) c.2079C>A (p.Ala693=) | |
3 | g.123291339G>A | CA354223810 | ADCY5 | c.1778C>T (p.Ala593Val) c.2066C>T (p.Ala689Val) n.1504C>T c.3176C>T (p.Ala1059Val) c.3101C>T (p.Ala1034Val) c.2051C>T (p.Ala684Val) c.2075C>T (p.Ala692Val) c.2126C>T (p.Ala709Val) c.1853C>T (p.Ala618Val) c.2177C>T (p.Ala726Val) c.2087C>T (p.Ala696Val) c.2078C>T (p.Ala693Val) | |
3 | g.123291339G>C | CA354223811 | ADCY5 | c.1778C>G (p.Ala593Gly) c.2066C>G (p.Ala689Gly) n.1504C>G c.3176C>G (p.Ala1059Gly) c.3101C>G (p.Ala1034Gly) c.2051C>G (p.Ala684Gly) c.2075C>G (p.Ala692Gly) c.2126C>G (p.Ala709Gly) c.1853C>G (p.Ala618Gly) c.2177C>G (p.Ala726Gly) c.2087C>G (p.Ala696Gly) c.2078C>G (p.Ala693Gly) | |
3 | g.123291339G>T | CA354223812 | ADCY5 | c.1778C>A (p.Ala593Asp) c.2066C>A (p.Ala689Asp) n.1504C>A c.3176C>A (p.Ala1059Asp) c.3101C>A (p.Ala1034Asp) c.2051C>A (p.Ala684Asp) c.2075C>A (p.Ala692Asp) c.2126C>A (p.Ala709Asp) c.1853C>A (p.Ala618Asp) c.2177C>A (p.Ala726Asp) c.2087C>A (p.Ala696Asp) c.2078C>A (p.Ala693Asp) | |
3 | g.123291340C>A | CA354223814 | ADCY5 | c.1777G>T (p.Ala593Ser) c.2065G>T (p.Ala689Ser) n.1503G>T c.3175G>T (p.Ala1059Ser) c.3100G>T (p.Ala1034Ser) c.2050G>T (p.Ala684Ser) c.2074G>T (p.Ala692Ser) c.2125G>T (p.Ala709Ser) c.1852G>T (p.Ala618Ser) c.2176G>T (p.Ala726Ser) c.2086G>T (p.Ala696Ser) c.2077G>T (p.Ala693Ser) | |
3 | g.123291340C= | CA1398330446 | ADCY5 | c.1777G= (p.Ala593=) c.2065G= (p.Ala689=) n.1503G= c.3175G= (p.Ala1059=) c.3100G= (p.Ala1034=) c.2050G= (p.Ala684=) c.2074G= (p.Ala692=) c.2125G= (p.Ala709=) c.1852G= (p.Ala618=) c.2176G= (p.Ala726=) c.2086G= (p.Ala696=) c.2077G= (p.Ala693=) | |
3 | g.123291340C>G | CA2576851 | ADCY5 | c.1777G>C (p.Ala593Pro) c.2065G>C (p.Ala689Pro) n.1503G>C c.3175G>C (p.Ala1059Pro) c.3100G>C (p.Ala1034Pro) c.2050G>C (p.Ala684Pro) c.2074G>C (p.Ala692Pro) c.2125G>C (p.Ala709Pro) c.1852G>C (p.Ala618Pro) c.2176G>C (p.Ala726Pro) c.2086G>C (p.Ala696Pro) c.2077G>C (p.Ala693Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.123291340C>T | CA354223813 | ADCY5 | c.1777G>A (p.Ala593Thr) c.2065G>A (p.Ala689Thr) n.1503G>A c.3175G>A (p.Ala1059Thr) c.3100G>A (p.Ala1034Thr) c.2050G>A (p.Ala684Thr) c.2074G>A (p.Ala692Thr) c.2125G>A (p.Ala709Thr) c.1852G>A (p.Ala618Thr) c.2176G>A (p.Ala726Thr) c.2086G>A (p.Ala696Thr) c.2077G>A (p.Ala693Thr) | |
3 | g.123291341C>A | CA354223815 | ADCY5 | c.1776G>T (p.Gln592His) c.2064G>T (p.Gln688His) n.1502G>T c.3174G>T (p.Gln1058His) c.3099G>T (p.Gln1033His) c.2049G>T (p.Gln683His) c.2073G>T (p.Gln691His) c.2124G>T (p.Gln708His) c.1851G>T (p.Gln617His) c.2175G>T (p.Gln725His) c.2085G>T (p.Gln695His) c.2076G>T (p.Gln692His) | ClinVar dbSNP |
3 | g.123291341C>G | CA354223816 | ADCY5 | c.1776G>C (p.Gln592His) c.2064G>C (p.Gln688His) n.1502G>C c.3174G>C (p.Gln1058His) c.3099G>C (p.Gln1033His) c.2049G>C (p.Gln683His) c.2073G>C (p.Gln691His) c.2124G>C (p.Gln708His) c.1851G>C (p.Gln617His) c.2175G>C (p.Gln725His) c.2085G>C (p.Gln695His) c.2076G>C (p.Gln692His) | |
3 | g.123291341C>T | CA435431338 | ADCY5 | c.1776G>A (p.Gln592=) c.2064G>A (p.Gln688=) n.1502G>A c.3174G>A (p.Gln1058=) c.3099G>A (p.Gln1033=) c.2049G>A (p.Gln683=) c.2073G>A (p.Gln691=) c.2124G>A (p.Gln708=) c.1851G>A (p.Gln617=) c.2175G>A (p.Gln725=) c.2085G>A (p.Gln695=) c.2076G>A (p.Gln692=) | |
3 | g.123291342T>A | CA354223817 | ADCY5 | c.1775A>T (p.Gln592Leu) c.2063A>T (p.Gln688Leu) n.1501A>T c.3173A>T (p.Gln1058Leu) c.3098A>T (p.Gln1033Leu) c.2048A>T (p.Gln683Leu) c.2072A>T (p.Gln691Leu) c.2123A>T (p.Gln708Leu) c.1850A>T (p.Gln617Leu) c.2174A>T (p.Gln725Leu) c.2084A>T (p.Gln695Leu) c.2075A>T (p.Gln692Leu) | |
3 | g.123291342T>C | CA354223818 | ADCY5 | c.1775A>G (p.Gln592Arg) c.2063A>G (p.Gln688Arg) n.1501A>G c.3173A>G (p.Gln1058Arg) c.3098A>G (p.Gln1033Arg) c.2048A>G (p.Gln683Arg) c.2072A>G (p.Gln691Arg) c.2123A>G (p.Gln708Arg) c.1850A>G (p.Gln617Arg) c.2174A>G (p.Gln725Arg) c.2084A>G (p.Gln695Arg) c.2075A>G (p.Gln692Arg) | |
3 | g.123291342T>G | CA354223819 | ADCY5 | c.1775A>C (p.Gln592Pro) c.2063A>C (p.Gln688Pro) n.1501A>C c.3173A>C (p.Gln1058Pro) c.3098A>C (p.Gln1033Pro) c.2048A>C (p.Gln683Pro) c.2072A>C (p.Gln691Pro) c.2123A>C (p.Gln708Pro) c.1850A>C (p.Gln617Pro) c.2174A>C (p.Gln725Pro) c.2084A>C (p.Gln695Pro) c.2075A>C (p.Gln692Pro) | |
3 | g.123291343G>A | CA354223821 | ADCY5 | c.1774C>T (p.Gln592Ter) c.2062C>T (p.Gln688Ter) n.1500C>T c.3172C>T (p.Gln1058Ter) c.3097C>T (p.Gln1033Ter) c.2047C>T (p.Gln683Ter) c.2071C>T (p.Gln691Ter) c.2122C>T (p.Gln708Ter) c.1849C>T (p.Gln617Ter) c.2173C>T (p.Gln725Ter) c.2083C>T (p.Gln695Ter) c.2074C>T (p.Gln692Ter) | dbSNP |
3 | g.123291343G>C | CA82904161 | ADCY5 | c.1774C>G (p.Gln592Glu) c.2062C>G (p.Gln688Glu) n.1500C>G c.3172C>G (p.Gln1058Glu) c.3097C>G (p.Gln1033Glu) c.2047C>G (p.Gln683Glu) c.2071C>G (p.Gln691Glu) c.2122C>G (p.Gln708Glu) c.1849C>G (p.Gln617Glu) c.2173C>G (p.Gln725Glu) c.2083C>G (p.Gln695Glu) c.2074C>G (p.Gln692Glu) | dbSNP |
3 | g.123291343G= | CA1398330447 | ADCY5 | c.1774C= (p.Gln592=) c.2062C= (p.Gln688=) n.1500C= c.3172C= (p.Gln1058=) c.3097C= (p.Gln1033=) c.2047C= (p.Gln683=) c.2071C= (p.Gln691=) c.2122C= (p.Gln708=) c.1849C= (p.Gln617=) c.2173C= (p.Gln725=) c.2083C= (p.Gln695=) c.2074C= (p.Gln692=) | |
3 | g.123291343G>T | CA354223820 | ADCY5 | c.1774C>A (p.Gln592Lys) c.2062C>A (p.Gln688Lys) n.1500C>A c.3172C>A (p.Gln1058Lys) c.3097C>A (p.Gln1033Lys) c.2047C>A (p.Gln683Lys) c.2071C>A (p.Gln691Lys) c.2122C>A (p.Gln708Lys) c.1849C>A (p.Gln617Lys) c.2173C>A (p.Gln725Lys) c.2083C>A (p.Gln695Lys) c.2074C>A (p.Gln692Lys) | |
3 | g.123291344C>A | CA435431340 | ADCY5 | c.1773G>T (p.Leu591=) c.2061G>T (p.Leu687=) n.1499G>T c.3171G>T (p.Leu1057=) c.3096G>T (p.Leu1032=) c.2046G>T (p.Leu682=) c.2070G>T (p.Leu690=) c.2121G>T (p.Leu707=) c.1848G>T (p.Leu616=) c.2172G>T (p.Leu724=) c.2082G>T (p.Leu694=) c.2073G>T (p.Leu691=) | |
3 | g.123291344C= | CA1398330448 | ADCY5 | c.1773G= (p.Leu591=) c.2061G= (p.Leu687=) n.1499G= c.3171G= (p.Leu1057=) c.3096G= (p.Leu1032=) c.2046G= (p.Leu682=) c.2070G= (p.Leu690=) c.2121G= (p.Leu707=) c.1848G= (p.Leu616=) c.2172G= (p.Leu724=) c.2082G= (p.Leu694=) c.2073G= (p.Leu691=) | |
3 | g.123291344C>G | CA435431342 | ADCY5 | c.1773G>C (p.Leu591=) c.2061G>C (p.Leu687=) n.1499G>C c.3171G>C (p.Leu1057=) c.3096G>C (p.Leu1032=) c.2046G>C (p.Leu682=) c.2070G>C (p.Leu690=) c.2121G>C (p.Leu707=) c.1848G>C (p.Leu616=) c.2172G>C (p.Leu724=) c.2082G>C (p.Leu694=) c.2073G>C (p.Leu691=) | |
3 | g.123291344C>T | CA435431341 | ADCY5 | c.1773G>A (p.Leu591=) c.2061G>A (p.Leu687=) n.1499G>A c.3171G>A (p.Leu1057=) c.3096G>A (p.Leu1032=) c.2046G>A (p.Leu682=) c.2070G>A (p.Leu690=) c.2121G>A (p.Leu707=) c.1848G>A (p.Leu616=) c.2172G>A (p.Leu724=) c.2082G>A (p.Leu694=) c.2073G>A (p.Leu691=) | dbSNP |
3 | g.123291345A>C | CA354223822 | ADCY5 | c.1772T>G (p.Leu591Arg) c.2060T>G (p.Leu687Arg) n.1498T>G c.3170T>G (p.Leu1057Arg) c.3095T>G (p.Leu1032Arg) c.2045T>G (p.Leu682Arg) c.2069T>G (p.Leu690Arg) c.2120T>G (p.Leu707Arg) c.1847T>G (p.Leu616Arg) c.2171T>G (p.Leu724Arg) c.2081T>G (p.Leu694Arg) c.2072T>G (p.Leu691Arg) | |
3 | g.123291345A>G | CA354223824 | ADCY5 | c.1772T>C (p.Leu591Pro) c.2060T>C (p.Leu687Pro) n.1498T>C c.3170T>C (p.Leu1057Pro) c.3095T>C (p.Leu1032Pro) c.2045T>C (p.Leu682Pro) c.2069T>C (p.Leu690Pro) c.2120T>C (p.Leu707Pro) c.1847T>C (p.Leu616Pro) c.2171T>C (p.Leu724Pro) c.2081T>C (p.Leu694Pro) c.2072T>C (p.Leu691Pro) | |
3 | g.123291345A>T | CA354223823 | ADCY5 | c.1772T>A (p.Leu591Gln) c.2060T>A (p.Leu687Gln) n.1498T>A c.3170T>A (p.Leu1057Gln) c.3095T>A (p.Leu1032Gln) c.2045T>A (p.Leu682Gln) c.2069T>A (p.Leu690Gln) c.2120T>A (p.Leu707Gln) c.1847T>A (p.Leu616Gln) c.2171T>A (p.Leu724Gln) c.2081T>A (p.Leu694Gln) c.2072T>A (p.Leu691Gln) | |
3 | g.123291346G>A | CA435431343 | ADCY5 | c.1771C>T (p.Leu591=) c.2059C>T (p.Leu687=) n.1497C>T c.3169C>T (p.Leu1057=) c.3094C>T (p.Leu1032=) c.2044C>T (p.Leu682=) c.2068C>T (p.Leu690=) c.2119C>T (p.Leu707=) c.1846C>T (p.Leu616=) c.2170C>T (p.Leu724=) c.2080C>T (p.Leu694=) c.2071C>T (p.Leu691=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.123291346G>C | CA354223825 | ADCY5 | c.1771C>G (p.Leu591Val) c.2059C>G (p.Leu687Val) n.1497C>G c.3169C>G (p.Leu1057Val) c.3094C>G (p.Leu1032Val) c.2044C>G (p.Leu682Val) c.2068C>G (p.Leu690Val) c.2119C>G (p.Leu707Val) c.1846C>G (p.Leu616Val) c.2170C>G (p.Leu724Val) c.2080C>G (p.Leu694Val) c.2071C>G (p.Leu691Val) | |
3 | g.123291346G= | CA1398330449 | ADCY5 | c.1771C= (p.Leu591=) c.2059C= (p.Leu687=) n.1497C= c.3169C= (p.Leu1057=) c.3094C= (p.Leu1032=) c.2044C= (p.Leu682=) c.2068C= (p.Leu690=) c.2119C= (p.Leu707=) c.1846C= (p.Leu616=) c.2170C= (p.Leu724=) c.2080C= (p.Leu694=) c.2071C= (p.Leu691=) | |
3 | g.123291346G>T | CA82904171 | ADCY5 | c.1771C>A (p.Leu591Met) c.2059C>A (p.Leu687Met) n.1497C>A c.3169C>A (p.Leu1057Met) c.3094C>A (p.Leu1032Met) c.2044C>A (p.Leu682Met) c.2068C>A (p.Leu690Met) c.2119C>A (p.Leu707Met) c.1846C>A (p.Leu616Met) c.2170C>A (p.Leu724Met) c.2080C>A (p.Leu694Met) c.2071C>A (p.Leu691Met) | dbSNP COSMIC |
3 | g.123291347C>A | CA354223826 | ADCY5 | c.1770G>T (p.Glu590Asp) c.2058G>T (p.Glu686Asp) n.1496G>T c.3168G>T (p.Glu1056Asp) c.3093G>T (p.Glu1031Asp) c.2043G>T (p.Glu681Asp) c.2067G>T (p.Glu689Asp) c.2118G>T (p.Glu706Asp) c.1845G>T (p.Glu615Asp) c.2169G>T (p.Glu723Asp) c.2079G>T (p.Glu693Asp) c.2070G>T (p.Glu690Asp) | |
3 | g.123291347C>G | CA354223827 | ADCY5 | c.1770G>C (p.Glu590Asp) c.2058G>C (p.Glu686Asp) n.1496G>C c.3168G>C (p.Glu1056Asp) c.3093G>C (p.Glu1031Asp) c.2043G>C (p.Glu681Asp) c.2067G>C (p.Glu689Asp) c.2118G>C (p.Glu706Asp) c.1845G>C (p.Glu615Asp) c.2169G>C (p.Glu723Asp) c.2079G>C (p.Glu693Asp) c.2070G>C (p.Glu690Asp) | gnomAD v4 |
3 | g.123291347C>T | CA435431348 | ADCY5 | c.1770G>A (p.Glu590=) c.2058G>A (p.Glu686=) n.1496G>A c.3168G>A (p.Glu1056=) c.3093G>A (p.Glu1031=) c.2043G>A (p.Glu681=) c.2067G>A (p.Glu689=) c.2118G>A (p.Glu706=) c.1845G>A (p.Glu615=) c.2169G>A (p.Glu723=) c.2079G>A (p.Glu693=) c.2070G>A (p.Glu690=) | |
3 | g.123291348T>A | CA354223828 | ADCY5 | c.1769A>T (p.Glu590Val) c.2057A>T (p.Glu686Val) n.1495A>T c.3167A>T (p.Glu1056Val) c.3092A>T (p.Glu1031Val) c.2042A>T (p.Glu681Val) c.2066A>T (p.Glu689Val) c.2117A>T (p.Glu706Val) c.1844A>T (p.Glu615Val) c.2168A>T (p.Glu723Val) c.2078A>T (p.Glu693Val) c.2069A>T (p.Glu690Val) | |
3 | g.123291348T>C | CA354223830 | ADCY5 | c.1769A>G (p.Glu590Gly) c.2057A>G (p.Glu686Gly) n.1495A>G c.3167A>G (p.Glu1056Gly) c.3092A>G (p.Glu1031Gly) c.2042A>G (p.Glu681Gly) c.2066A>G (p.Glu689Gly) c.2117A>G (p.Glu706Gly) c.1844A>G (p.Glu615Gly) c.2168A>G (p.Glu723Gly) c.2078A>G (p.Glu693Gly) c.2069A>G (p.Glu690Gly) | |
3 | g.123291348T>G | CA354223829 | ADCY5 | c.1769A>C (p.Glu590Ala) c.2057A>C (p.Glu686Ala) n.1495A>C c.3167A>C (p.Glu1056Ala) c.3092A>C (p.Glu1031Ala) c.2042A>C (p.Glu681Ala) c.2066A>C (p.Glu689Ala) c.2117A>C (p.Glu706Ala) c.1844A>C (p.Glu615Ala) c.2168A>C (p.Glu723Ala) c.2078A>C (p.Glu693Ala) c.2069A>C (p.Glu690Ala) | |
3 | g.123291349C>A | CA354223831 | ADCY5 | c.1768G>T (p.Glu590Ter) c.2056G>T (p.Glu686Ter) n.1494G>T c.3166G>T (p.Glu1056Ter) c.3091G>T (p.Glu1031Ter) c.2041G>T (p.Glu681Ter) c.2065G>T (p.Glu689Ter) c.2116G>T (p.Glu706Ter) c.1843G>T (p.Glu615Ter) c.2167G>T (p.Glu723Ter) c.2077G>T (p.Glu693Ter) c.2068G>T (p.Glu690Ter) | dbSNP |
3 | g.123291349C= | CA1398330450 | ADCY5 | c.1768G= (p.Glu590=) c.2056G= (p.Glu686=) n.1494G= c.3166G= (p.Glu1056=) c.3091G= (p.Glu1031=) c.2041G= (p.Glu681=) c.2065G= (p.Glu689=) c.2116G= (p.Glu706=) c.1843G= (p.Glu615=) c.2167G= (p.Glu723=) c.2077G= (p.Glu693=) c.2068G= (p.Glu690=) | |
3 | g.123291349C>G | CA354223832 | ADCY5 | c.1768G>C (p.Glu590Gln) c.2056G>C (p.Glu686Gln) n.1494G>C c.3166G>C (p.Glu1056Gln) c.3091G>C (p.Glu1031Gln) c.2041G>C (p.Glu681Gln) c.2065G>C (p.Glu689Gln) c.2116G>C (p.Glu706Gln) c.1843G>C (p.Glu615Gln) c.2167G>C (p.Glu723Gln) c.2077G>C (p.Glu693Gln) c.2068G>C (p.Glu690Gln) | |
3 | g.123291349C>T | CA354223833 | ADCY5 | c.1768G>A (p.Glu590Lys) c.2056G>A (p.Glu686Lys) n.1494G>A c.3166G>A (p.Glu1056Lys) c.3091G>A (p.Glu1031Lys) c.2041G>A (p.Glu681Lys) c.2065G>A (p.Glu689Lys) c.2116G>A (p.Glu706Lys) c.1843G>A (p.Glu615Lys) c.2167G>A (p.Glu723Lys) c.2077G>A (p.Glu693Lys) c.2068G>A (p.Glu690Lys) | COSMIC |
3 | g.123291350C>A | CA354223834 | ADCY5 | c.1767G>T (p.Glu589Asp) c.2055G>T (p.Glu685Asp) n.1493G>T c.3165G>T (p.Glu1055Asp) c.3090G>T (p.Glu1030Asp) c.2040G>T (p.Glu680Asp) c.2064G>T (p.Glu688Asp) c.2115G>T (p.Glu705Asp) c.1842G>T (p.Glu614Asp) c.2166G>T (p.Glu722Asp) c.2076G>T (p.Glu692Asp) c.2067G>T (p.Glu689Asp) | |
3 | g.123291350C>G | CA354223835 | ADCY5 | c.1767G>C (p.Glu589Asp) c.2055G>C (p.Glu685Asp) n.1493G>C c.3165G>C (p.Glu1055Asp) c.3090G>C (p.Glu1030Asp) c.2040G>C (p.Glu680Asp) c.2064G>C (p.Glu688Asp) c.2115G>C (p.Glu705Asp) c.1842G>C (p.Glu614Asp) c.2166G>C (p.Glu722Asp) c.2076G>C (p.Glu692Asp) c.2067G>C (p.Glu689Asp) | |
3 | g.123291350C>T | CA435431356 | ADCY5 | c.1767G>A (p.Glu589=) c.2055G>A (p.Glu685=) n.1493G>A c.3165G>A (p.Glu1055=) c.3090G>A (p.Glu1030=) c.2040G>A (p.Glu680=) c.2064G>A (p.Glu688=) c.2115G>A (p.Glu705=) c.1842G>A (p.Glu614=) c.2166G>A (p.Glu722=) c.2076G>A (p.Glu692=) c.2067G>A (p.Glu689=) | |
3 | g.123291351T>A | CA354223838 | ADCY5 | c.1766A>T (p.Glu589Val) c.2054A>T (p.Glu685Val) n.1492A>T c.3164A>T (p.Glu1055Val) c.3089A>T (p.Glu1030Val) c.2039A>T (p.Glu680Val) c.2063A>T (p.Glu688Val) c.2114A>T (p.Glu705Val) c.1841A>T (p.Glu614Val) c.2165A>T (p.Glu722Val) c.2075A>T (p.Glu692Val) c.2066A>T (p.Glu689Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.123291351T>C | CA354223837 | ADCY5 | c.1766A>G (p.Glu589Gly) c.2054A>G (p.Glu685Gly) n.1492A>G c.3164A>G (p.Glu1055Gly) c.3089A>G (p.Glu1030Gly) c.2039A>G (p.Glu680Gly) c.2063A>G (p.Glu688Gly) c.2114A>G (p.Glu705Gly) c.1841A>G (p.Glu614Gly) c.2165A>G (p.Glu722Gly) c.2075A>G (p.Glu692Gly) c.2066A>G (p.Glu689Gly) | |
3 | g.123291351T>G | CA354223836 | ADCY5 | c.1766A>C (p.Glu589Ala) c.2054A>C (p.Glu685Ala) n.1492A>C c.3164A>C (p.Glu1055Ala) c.3089A>C (p.Glu1030Ala) c.2039A>C (p.Glu680Ala) c.2063A>C (p.Glu688Ala) c.2114A>C (p.Glu705Ala) c.1841A>C (p.Glu614Ala) c.2165A>C (p.Glu722Ala) c.2075A>C (p.Glu692Ala) c.2066A>C (p.Glu689Ala) | |
3 | g.123291351T= | CA1398330451 | ADCY5 | c.1766A= (p.Glu589=) c.2054A= (p.Glu685=) n.1492A= c.3164A= (p.Glu1055=) c.3089A= (p.Glu1030=) c.2039A= (p.Glu680=) c.2063A= (p.Glu688=) c.2114A= (p.Glu705=) c.1841A= (p.Glu614=) c.2165A= (p.Glu722=) c.2075A= (p.Glu692=) c.2066A= (p.Glu689=) | |
3 | g.123291352C>A | CA354223839 | ADCY5 | c.1765G>T (p.Glu589Ter) c.2053G>T (p.Glu685Ter) n.1491G>T c.3163G>T (p.Glu1055Ter) c.3088G>T (p.Glu1030Ter) c.2038G>T (p.Glu680Ter) c.2062G>T (p.Glu688Ter) c.2113G>T (p.Glu705Ter) c.1840G>T (p.Glu614Ter) c.2164G>T (p.Glu722Ter) c.2074G>T (p.Glu692Ter) c.2065G>T (p.Glu689Ter) | dbSNP |
3 | g.123291352C= | CA1398330452 | ADCY5 | c.1765G= (p.Glu589=) c.2053G= (p.Glu685=) n.1491G= c.3163G= (p.Glu1055=) c.3088G= (p.Glu1030=) c.2038G= (p.Glu680=) c.2062G= (p.Glu688=) c.2113G= (p.Glu705=) c.1840G= (p.Glu614=) c.2164G= (p.Glu722=) c.2074G= (p.Glu692=) c.2065G= (p.Glu689=) | |
3 | g.123291352C>G | CA354223840 | ADCY5 | c.1765G>C (p.Glu589Gln) c.2053G>C (p.Glu685Gln) n.1491G>C c.3163G>C (p.Glu1055Gln) c.3088G>C (p.Glu1030Gln) c.2038G>C (p.Glu680Gln) c.2062G>C (p.Glu688Gln) c.2113G>C (p.Glu705Gln) c.1840G>C (p.Glu614Gln) c.2164G>C (p.Glu722Gln) c.2074G>C (p.Glu692Gln) c.2065G>C (p.Glu689Gln) | |
3 | g.123291352C>T | CA354223841 | ADCY5 | c.1765G>A (p.Glu589Lys) c.2053G>A (p.Glu685Lys) n.1491G>A c.3163G>A (p.Glu1055Lys) c.3088G>A (p.Glu1030Lys) c.2038G>A (p.Glu680Lys) c.2062G>A (p.Glu688Lys) c.2113G>A (p.Glu705Lys) c.1840G>A (p.Glu614Lys) c.2164G>A (p.Glu722Lys) c.2074G>A (p.Glu692Lys) c.2065G>A (p.Glu689Lys) | COSMIC |
3 | g.123291353C>A | CA354223842 | ADCY5 | c.1764G>T (p.Met588Ile) c.2052G>T (p.Met684Ile) n.1490G>T c.3162G>T (p.Met1054Ile) c.3087G>T (p.Met1029Ile) c.2037G>T (p.Met679Ile) c.2061G>T (p.Met687Ile) c.2112G>T (p.Met704Ile) c.1839G>T (p.Met613Ile) c.2163G>T (p.Met721Ile) c.2073G>T (p.Met691Ile) c.2064G>T (p.Met688Ile) | |
3 | g.123291353C>G | CA354223843 | ADCY5 | c.1764G>C (p.Met588Ile) c.2052G>C (p.Met684Ile) n.1490G>C c.3162G>C (p.Met1054Ile) c.3087G>C (p.Met1029Ile) c.2037G>C (p.Met679Ile) c.2061G>C (p.Met687Ile) c.2112G>C (p.Met704Ile) c.1839G>C (p.Met613Ile) c.2163G>C (p.Met721Ile) c.2073G>C (p.Met691Ile) c.2064G>C (p.Met688Ile) | |
3 | g.123291353C>T | CA354223844 | ADCY5 | c.1764G>A (p.Met588Ile) c.2052G>A (p.Met684Ile) n.1490G>A c.3162G>A (p.Met1054Ile) c.3087G>A (p.Met1029Ile) c.2037G>A (p.Met679Ile) c.2061G>A (p.Met687Ile) c.2112G>A (p.Met704Ile) c.1839G>A (p.Met613Ile) c.2163G>A (p.Met721Ile) c.2073G>A (p.Met691Ile) c.2064G>A (p.Met688Ile) | |
3 | g.123291354A= | CA1398330453 | ADCY5 | c.1763T= (p.Met588=) c.2051T= (p.Met684=) n.1489T= c.3161T= (p.Met1054=) c.3086T= (p.Met1029=) c.2036T= (p.Met679=) c.2060T= (p.Met687=) c.2111T= (p.Met704=) c.1838T= (p.Met613=) c.2162T= (p.Met721=) c.2072T= (p.Met691=) c.2063T= (p.Met688=) | |
3 | g.123291354A>C | CA354223846 | ADCY5 | c.1763T>G (p.Met588Arg) c.2051T>G (p.Met684Arg) n.1489T>G c.3161T>G (p.Met1054Arg) c.3086T>G (p.Met1029Arg) c.2036T>G (p.Met679Arg) c.2060T>G (p.Met687Arg) c.2111T>G (p.Met704Arg) c.1838T>G (p.Met613Arg) c.2162T>G (p.Met721Arg) c.2072T>G (p.Met691Arg) c.2063T>G (p.Met688Arg) | ClinVar |
3 | g.123291354A>G | CA354223845 | ADCY5 | c.1763T>C (p.Met588Thr) c.2051T>C (p.Met684Thr) n.1489T>C c.3161T>C (p.Met1054Thr) c.3086T>C (p.Met1029Thr) c.2036T>C (p.Met679Thr) c.2060T>C (p.Met687Thr) c.2111T>C (p.Met704Thr) c.1838T>C (p.Met613Thr) c.2162T>C (p.Met721Thr) c.2072T>C (p.Met691Thr) c.2063T>C (p.Met688Thr) | |
3 | g.123291354A>T | CA347742 | ADCY5 | c.1763T>A (p.Met588Lys) c.2051T>A (p.Met684Lys) n.1489T>A c.3161T>A (p.Met1054Lys) c.3086T>A (p.Met1029Lys) c.2036T>A (p.Met679Lys) c.2060T>A (p.Met687Lys) c.2111T>A (p.Met704Lys) c.1838T>A (p.Met613Lys) c.2162T>A (p.Met721Lys) c.2072T>A (p.Met691Lys) c.2063T>A (p.Met688Lys) | ClinVar dbSNP |