| 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=) |