UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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 |