| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.123291354A= | CA1398330453 | ADCY5 | c.1763T= (p.Met588=) c.2051T= (p.Met684=) n.1489T= c.3161T= (p.Met1054=) c.3086T= (p.Met1029=) c.2036T= (p.Met679=) c.2060T= (p.Met687=) c.2111T= (p.Met704=) c.1838T= (p.Met613=) c.2162T= (p.Met721=) c.2072T= (p.Met691=) c.2063T= (p.Met688=) | |
| 3 | g.123291354A>C | CA354223846 | ADCY5 | c.1763T>G (p.Met588Arg) c.2051T>G (p.Met684Arg) n.1489T>G c.3161T>G (p.Met1054Arg) c.3086T>G (p.Met1029Arg) c.2036T>G (p.Met679Arg) c.2060T>G (p.Met687Arg) c.2111T>G (p.Met704Arg) c.1838T>G (p.Met613Arg) c.2162T>G (p.Met721Arg) c.2072T>G (p.Met691Arg) c.2063T>G (p.Met688Arg) | ClinVar |
| 3 | g.123291354A>G | CA354223845 | ADCY5 | c.1763T>C (p.Met588Thr) c.2051T>C (p.Met684Thr) n.1489T>C c.3161T>C (p.Met1054Thr) c.3086T>C (p.Met1029Thr) c.2036T>C (p.Met679Thr) c.2060T>C (p.Met687Thr) c.2111T>C (p.Met704Thr) c.1838T>C (p.Met613Thr) c.2162T>C (p.Met721Thr) c.2072T>C (p.Met691Thr) c.2063T>C (p.Met688Thr) | |
| 3 | g.123291354A>T | CA347742 | ADCY5 | c.1763T>A (p.Met588Lys) c.2051T>A (p.Met684Lys) n.1489T>A c.3161T>A (p.Met1054Lys) c.3086T>A (p.Met1029Lys) c.2036T>A (p.Met679Lys) c.2060T>A (p.Met687Lys) c.2111T>A (p.Met704Lys) c.1838T>A (p.Met613Lys) c.2162T>A (p.Met721Lys) c.2072T>A (p.Met691Lys) c.2063T>A (p.Met688Lys) | ClinVar dbSNP |
| 3 | g.123291355T>A | CA354223847 | ADCY5 | c.1762A>T (p.Met588Leu) c.2050A>T (p.Met684Leu) n.1488A>T c.3160A>T (p.Met1054Leu) c.3085A>T (p.Met1029Leu) c.2035A>T (p.Met679Leu) c.2059A>T (p.Met687Leu) c.2110A>T (p.Met704Leu) c.1837A>T (p.Met613Leu) c.2161A>T (p.Met721Leu) c.2071A>T (p.Met691Leu) c.2062A>T (p.Met688Leu) | |
| 3 | g.123291355T>C | CA354223848 | ADCY5 | c.1762A>G (p.Met588Val) c.2050A>G (p.Met684Val) n.1488A>G c.3160A>G (p.Met1054Val) c.3085A>G (p.Met1029Val) c.2035A>G (p.Met679Val) c.2059A>G (p.Met687Val) c.2110A>G (p.Met704Val) c.1837A>G (p.Met613Val) c.2161A>G (p.Met721Val) c.2071A>G (p.Met691Val) c.2062A>G (p.Met688Val) | |
| 3 | g.123291355T>G | CA354223849 | ADCY5 | c.1762A>C (p.Met588Leu) c.2050A>C (p.Met684Leu) n.1488A>C c.3160A>C (p.Met1054Leu) c.3085A>C (p.Met1029Leu) c.2035A>C (p.Met679Leu) c.2059A>C (p.Met687Leu) c.2110A>C (p.Met704Leu) c.1837A>C (p.Met613Leu) c.2161A>C (p.Met721Leu) c.2071A>C (p.Met691Leu) c.2062A>C (p.Met688Leu) | |
| 3 | g.123291356C>A | CA354223850 | ADCY5 | c.1761G>T (p.Glu587Asp) c.2049G>T (p.Glu683Asp) n.1487G>T c.3159G>T (p.Glu1053Asp) c.3084G>T (p.Glu1028Asp) c.2034G>T (p.Glu678Asp) c.2058G>T (p.Glu686Asp) c.2109G>T (p.Glu703Asp) c.1836G>T (p.Glu612Asp) c.2160G>T (p.Glu720Asp) c.2070G>T (p.Glu690Asp) c.2061G>T (p.Glu687Asp) | COSMIC |
| 3 | g.123291356C>G | CA354223851 | ADCY5 | c.1761G>C (p.Glu587Asp) c.2049G>C (p.Glu683Asp) n.1487G>C c.3159G>C (p.Glu1053Asp) c.3084G>C (p.Glu1028Asp) c.2034G>C (p.Glu678Asp) c.2058G>C (p.Glu686Asp) c.2109G>C (p.Glu703Asp) c.1836G>C (p.Glu612Asp) c.2160G>C (p.Glu720Asp) c.2070G>C (p.Glu690Asp) c.2061G>C (p.Glu687Asp) | |
| 3 | g.123291356C>T | CA435431363 | ADCY5 | c.1761G>A (p.Glu587=) c.2049G>A (p.Glu683=) n.1487G>A c.3159G>A (p.Glu1053=) c.3084G>A (p.Glu1028=) c.2034G>A (p.Glu678=) c.2058G>A (p.Glu686=) c.2109G>A (p.Glu703=) c.1836G>A (p.Glu612=) c.2160G>A (p.Glu720=) c.2070G>A (p.Glu690=) c.2061G>A (p.Glu687=) | |
| 3 | g.123291357T>A | CA354223852 | ADCY5 | c.1760A>T (p.Glu587Val) c.2048A>T (p.Glu683Val) n.1486A>T c.3158A>T (p.Glu1053Val) c.3083A>T (p.Glu1028Val) c.2033A>T (p.Glu678Val) c.2057A>T (p.Glu686Val) c.2108A>T (p.Glu703Val) c.1835A>T (p.Glu612Val) c.2159A>T (p.Glu720Val) c.2069A>T (p.Glu690Val) c.2060A>T (p.Glu687Val) | |
| 3 | g.123291357T>C | CA354223853 | ADCY5 | c.1760A>G (p.Glu587Gly) c.2048A>G (p.Glu683Gly) n.1486A>G c.3158A>G (p.Glu1053Gly) c.3083A>G (p.Glu1028Gly) c.2033A>G (p.Glu678Gly) c.2057A>G (p.Glu686Gly) c.2108A>G (p.Glu703Gly) c.1835A>G (p.Glu612Gly) c.2159A>G (p.Glu720Gly) c.2069A>G (p.Glu690Gly) c.2060A>G (p.Glu687Gly) | |
| 3 | g.123291357T>G | CA354223854 | ADCY5 | c.1760A>C (p.Glu587Ala) c.2048A>C (p.Glu683Ala) n.1486A>C c.3158A>C (p.Glu1053Ala) c.3083A>C (p.Glu1028Ala) c.2033A>C (p.Glu678Ala) c.2057A>C (p.Glu686Ala) c.2108A>C (p.Glu703Ala) c.1835A>C (p.Glu612Ala) c.2159A>C (p.Glu720Ala) c.2069A>C (p.Glu690Ala) c.2060A>C (p.Glu687Ala) | |
| 3 | g.123291358C>A | CA354223855 | ADCY5 | c.1759G>T (p.Glu587Ter) c.2047G>T (p.Glu683Ter) n.1485G>T c.3157G>T (p.Glu1053Ter) c.3082G>T (p.Glu1028Ter) c.2032G>T (p.Glu678Ter) c.2056G>T (p.Glu686Ter) c.2107G>T (p.Glu703Ter) c.1834G>T (p.Glu612Ter) c.2158G>T (p.Glu720Ter) c.2068G>T (p.Glu690Ter) c.2059G>T (p.Glu687Ter) | dbSNP |
| 3 | g.123291358C= | CA1398330454 | ADCY5 | c.1759G= (p.Glu587=) c.2047G= (p.Glu683=) n.1485G= c.3157G= (p.Glu1053=) c.3082G= (p.Glu1028=) c.2032G= (p.Glu678=) c.2056G= (p.Glu686=) c.2107G= (p.Glu703=) c.1834G= (p.Glu612=) c.2158G= (p.Glu720=) c.2068G= (p.Glu690=) c.2059G= (p.Glu687=) | |
| 3 | g.123291358C>G | CA354223856 | ADCY5 | c.1759G>C (p.Glu587Gln) c.2047G>C (p.Glu683Gln) n.1485G>C c.3157G>C (p.Glu1053Gln) c.3082G>C (p.Glu1028Gln) c.2032G>C (p.Glu678Gln) c.2056G>C (p.Glu686Gln) c.2107G>C (p.Glu703Gln) c.1834G>C (p.Glu612Gln) c.2158G>C (p.Glu720Gln) c.2068G>C (p.Glu690Gln) c.2059G>C (p.Glu687Gln) | |
| 3 | g.123291358C>T | CA354223857 | ADCY5 | c.1759G>A (p.Glu587Lys) c.2047G>A (p.Glu683Lys) n.1485G>A c.3157G>A (p.Glu1053Lys) c.3082G>A (p.Glu1028Lys) c.2032G>A (p.Glu678Lys) c.2056G>A (p.Glu686Lys) c.2107G>A (p.Glu703Lys) c.1834G>A (p.Glu612Lys) c.2158G>A (p.Glu720Lys) c.2068G>A (p.Glu690Lys) c.2059G>A (p.Glu687Lys) | ClinVar |
| 3 | g.123291359C>A | CA354223858 | ADCY5 | c.1758G>T (p.Glu586Asp) c.2046G>T (p.Glu682Asp) n.1484G>T c.3156G>T (p.Glu1052Asp) c.3081G>T (p.Glu1027Asp) c.2031G>T (p.Glu677Asp) c.2055G>T (p.Glu685Asp) c.2106G>T (p.Glu702Asp) c.1833G>T (p.Glu611Asp) c.2157G>T (p.Glu719Asp) c.2067G>T (p.Glu689Asp) c.2058G>T (p.Glu686Asp) | |
| 3 | g.123291359C>G | CA354223859 | ADCY5 | c.1758G>C (p.Glu586Asp) c.2046G>C (p.Glu682Asp) n.1484G>C c.3156G>C (p.Glu1052Asp) c.3081G>C (p.Glu1027Asp) c.2031G>C (p.Glu677Asp) c.2055G>C (p.Glu685Asp) c.2106G>C (p.Glu702Asp) c.1833G>C (p.Glu611Asp) c.2157G>C (p.Glu719Asp) c.2067G>C (p.Glu689Asp) c.2058G>C (p.Glu686Asp) | |
| 3 | g.123291359C>T | CA435431364 | ADCY5 | c.1758G>A (p.Glu586=) c.2046G>A (p.Glu682=) n.1484G>A c.3156G>A (p.Glu1052=) c.3081G>A (p.Glu1027=) c.2031G>A (p.Glu677=) c.2055G>A (p.Glu685=) c.2106G>A (p.Glu702=) c.1833G>A (p.Glu611=) c.2157G>A (p.Glu719=) c.2067G>A (p.Glu689=) c.2058G>A (p.Glu686=) | gnomAD v4 |
| 3 | g.123291360T>A | CA354223862 | ADCY5 | c.1757A>T (p.Glu586Val) c.2045A>T (p.Glu682Val) n.1483A>T c.3155A>T (p.Glu1052Val) c.3080A>T (p.Glu1027Val) c.2030A>T (p.Glu677Val) c.2054A>T (p.Glu685Val) c.2105A>T (p.Glu702Val) c.1832A>T (p.Glu611Val) c.2156A>T (p.Glu719Val) c.2066A>T (p.Glu689Val) c.2057A>T (p.Glu686Val) | |
| 3 | g.123291360T>C | CA354223860 | ADCY5 | c.1757A>G (p.Glu586Gly) c.2045A>G (p.Glu682Gly) n.1483A>G c.3155A>G (p.Glu1052Gly) c.3080A>G (p.Glu1027Gly) c.2030A>G (p.Glu677Gly) c.2054A>G (p.Glu685Gly) c.2105A>G (p.Glu702Gly) c.1832A>G (p.Glu611Gly) c.2156A>G (p.Glu719Gly) c.2066A>G (p.Glu689Gly) c.2057A>G (p.Glu686Gly) | |
| 3 | g.123291360T>G | CA354223861 | ADCY5 | c.1757A>C (p.Glu586Ala) c.2045A>C (p.Glu682Ala) n.1483A>C c.3155A>C (p.Glu1052Ala) c.3080A>C (p.Glu1027Ala) c.2030A>C (p.Glu677Ala) c.2054A>C (p.Glu685Ala) c.2105A>C (p.Glu702Ala) c.1832A>C (p.Glu611Ala) c.2156A>C (p.Glu719Ala) c.2066A>C (p.Glu689Ala) c.2057A>C (p.Glu686Ala) | |
| 3 | g.123291361C>A | CA354223863 | ADCY5 | c.1756G>T (p.Glu586Ter) c.2044G>T (p.Glu682Ter) n.1482G>T c.3154G>T (p.Glu1052Ter) c.3079G>T (p.Glu1027Ter) c.2029G>T (p.Glu677Ter) c.2053G>T (p.Glu685Ter) c.2104G>T (p.Glu702Ter) c.1831G>T (p.Glu611Ter) c.2155G>T (p.Glu719Ter) c.2065G>T (p.Glu689Ter) c.2056G>T (p.Glu686Ter) | dbSNP COSMIC |
| 3 | g.123291361C= | CA1398330455 | ADCY5 | c.1756G= (p.Glu586=) c.2044G= (p.Glu682=) n.1482G= c.3154G= (p.Glu1052=) c.3079G= (p.Glu1027=) c.2029G= (p.Glu677=) c.2053G= (p.Glu685=) c.2104G= (p.Glu702=) c.1831G= (p.Glu611=) c.2155G= (p.Glu719=) c.2065G= (p.Glu689=) c.2056G= (p.Glu686=) | |
| 3 | g.123291361C>G | CA354223864 | ADCY5 | c.1756G>C (p.Glu586Gln) c.2044G>C (p.Glu682Gln) n.1482G>C c.3154G>C (p.Glu1052Gln) c.3079G>C (p.Glu1027Gln) c.2029G>C (p.Glu677Gln) c.2053G>C (p.Glu685Gln) c.2104G>C (p.Glu702Gln) c.1831G>C (p.Glu611Gln) c.2155G>C (p.Glu719Gln) c.2065G>C (p.Glu689Gln) c.2056G>C (p.Glu686Gln) | |
| 3 | g.123291361C>T | CA354223865 | ADCY5 | c.1756G>A (p.Glu586Lys) c.2044G>A (p.Glu682Lys) n.1482G>A c.3154G>A (p.Glu1052Lys) c.3079G>A (p.Glu1027Lys) c.2029G>A (p.Glu677Lys) c.2053G>A (p.Glu685Lys) c.2104G>A (p.Glu702Lys) c.1831G>A (p.Glu611Lys) c.2155G>A (p.Glu719Lys) c.2065G>A (p.Glu689Lys) c.2056G>A (p.Glu686Lys) | |
| 3 | g.123291362T>A | CA354223866 | ADCY5 | c.1755A>T (p.Lys585Asn) c.2043A>T (p.Lys681Asn) n.1481A>T c.3153A>T (p.Lys1051Asn) c.3078A>T (p.Lys1026Asn) c.2028A>T (p.Lys676Asn) c.2052A>T (p.Lys684Asn) c.2103A>T (p.Lys701Asn) c.1830A>T (p.Lys610Asn) c.2154A>T (p.Lys718Asn) c.2064A>T (p.Lys688Asn) c.2055A>T (p.Lys685Asn) | |
| 3 | g.123291362T>C | CA2576852 | ADCY5 | c.1755A>G (p.Lys585=) c.2043A>G (p.Lys681=) n.1481A>G c.3153A>G (p.Lys1051=) c.3078A>G (p.Lys1026=) c.2028A>G (p.Lys676=) c.2052A>G (p.Lys684=) c.2103A>G (p.Lys701=) c.1830A>G (p.Lys610=) c.2154A>G (p.Lys718=) c.2064A>G (p.Lys688=) c.2055A>G (p.Lys685=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.123291362T>G | CA354223867 | ADCY5 | c.1755A>C (p.Lys585Asn) c.2043A>C (p.Lys681Asn) n.1481A>C c.3153A>C (p.Lys1051Asn) c.3078A>C (p.Lys1026Asn) c.2028A>C (p.Lys676Asn) c.2052A>C (p.Lys684Asn) c.2103A>C (p.Lys701Asn) c.1830A>C (p.Lys610Asn) c.2154A>C (p.Lys718Asn) c.2064A>C (p.Lys688Asn) c.2055A>C (p.Lys685Asn) | |
| 3 | g.123291362T= | CA1398330456 | ADCY5 | c.1755A= (p.Lys585=) c.2043A= (p.Lys681=) n.1481A= c.3153A= (p.Lys1051=) c.3078A= (p.Lys1026=) c.2028A= (p.Lys676=) c.2052A= (p.Lys684=) c.2103A= (p.Lys701=) c.1830A= (p.Lys610=) c.2154A= (p.Lys718=) c.2064A= (p.Lys688=) c.2055A= (p.Lys685=) | |
| 3 | g.123291363T>A | CA354223870 | ADCY5 | c.1754A>T (p.Lys585Ile) c.2042A>T (p.Lys681Ile) n.1480A>T c.3152A>T (p.Lys1051Ile) c.3077A>T (p.Lys1026Ile) c.2027A>T (p.Lys676Ile) c.2051A>T (p.Lys684Ile) c.2102A>T (p.Lys701Ile) c.1829A>T (p.Lys610Ile) c.2153A>T (p.Lys718Ile) c.2063A>T (p.Lys688Ile) c.2054A>T (p.Lys685Ile) | |
| 3 | g.123291363T>C | CA354223868 | ADCY5 | c.1754A>G (p.Lys585Arg) c.2042A>G (p.Lys681Arg) n.1480A>G c.3152A>G (p.Lys1051Arg) c.3077A>G (p.Lys1026Arg) c.2027A>G (p.Lys676Arg) c.2051A>G (p.Lys684Arg) c.2102A>G (p.Lys701Arg) c.1829A>G (p.Lys610Arg) c.2153A>G (p.Lys718Arg) c.2063A>G (p.Lys688Arg) c.2054A>G (p.Lys685Arg) | |
| 3 | g.123291363T>G | CA354223869 | ADCY5 | c.1754A>C (p.Lys585Thr) c.2042A>C (p.Lys681Thr) n.1480A>C c.3152A>C (p.Lys1051Thr) c.3077A>C (p.Lys1026Thr) c.2027A>C (p.Lys676Thr) c.2051A>C (p.Lys684Thr) c.2102A>C (p.Lys701Thr) c.1829A>C (p.Lys610Thr) c.2153A>C (p.Lys718Thr) c.2063A>C (p.Lys688Thr) c.2054A>C (p.Lys685Thr) | |
| 3 | g.123291364T>A | CA354223871 | ADCY5 | c.1753A>T (p.Lys585Ter) c.2041A>T (p.Lys681Ter) n.1479A>T c.3151A>T (p.Lys1051Ter) c.3076A>T (p.Lys1026Ter) c.2026A>T (p.Lys676Ter) c.2050A>T (p.Lys684Ter) c.2101A>T (p.Lys701Ter) c.1828A>T (p.Lys610Ter) c.2152A>T (p.Lys718Ter) c.2062A>T (p.Lys688Ter) c.2053A>T (p.Lys685Ter) | dbSNP |
| 3 | g.123291364T>C | CA354223872 | ADCY5 | c.1753A>G (p.Lys585Glu) c.2041A>G (p.Lys681Glu) n.1479A>G c.3151A>G (p.Lys1051Glu) c.3076A>G (p.Lys1026Glu) c.2026A>G (p.Lys676Glu) c.2050A>G (p.Lys684Glu) c.2101A>G (p.Lys701Glu) c.1828A>G (p.Lys610Glu) c.2152A>G (p.Lys718Glu) c.2062A>G (p.Lys688Glu) c.2053A>G (p.Lys685Glu) | |
| 3 | g.123291364T>G | CA354223873 | ADCY5 | c.1753A>C (p.Lys585Gln) c.2041A>C (p.Lys681Gln) n.1479A>C c.3151A>C (p.Lys1051Gln) c.3076A>C (p.Lys1026Gln) c.2026A>C (p.Lys676Gln) c.2050A>C (p.Lys684Gln) c.2101A>C (p.Lys701Gln) c.1828A>C (p.Lys610Gln) c.2152A>C (p.Lys718Gln) c.2062A>C (p.Lys688Gln) c.2053A>C (p.Lys685Gln) | |
| 3 | g.123291364T= | CA1398330457 | ADCY5 | c.1753A= (p.Lys585=) c.2041A= (p.Lys681=) n.1479A= c.3151A= (p.Lys1051=) c.3076A= (p.Lys1026=) c.2026A= (p.Lys676=) c.2050A= (p.Lys684=) c.2101A= (p.Lys701=) c.1828A= (p.Lys610=) c.2152A= (p.Lys718=) c.2062A= (p.Lys688=) c.2053A= (p.Lys685=) | |
| 3 | g.123291365C>A | CA354223874 | ADCY5 | c.1752G>T (p.Glu584Asp) c.2040G>T (p.Glu680Asp) n.1478G>T c.3150G>T (p.Glu1050Asp) c.3075G>T (p.Glu1025Asp) c.2025G>T (p.Glu675Asp) c.2049G>T (p.Glu683Asp) c.2100G>T (p.Glu700Asp) c.1827G>T (p.Glu609Asp) c.2151G>T (p.Glu717Asp) c.2061G>T (p.Glu687Asp) c.2052G>T (p.Glu684Asp) | |
| 3 | g.123291365C>G | CA354223875 | ADCY5 | c.1752G>C (p.Glu584Asp) c.2040G>C (p.Glu680Asp) n.1478G>C c.3150G>C (p.Glu1050Asp) c.3075G>C (p.Glu1025Asp) c.2025G>C (p.Glu675Asp) c.2049G>C (p.Glu683Asp) c.2100G>C (p.Glu700Asp) c.1827G>C (p.Glu609Asp) c.2151G>C (p.Glu717Asp) c.2061G>C (p.Glu687Asp) c.2052G>C (p.Glu684Asp) | |
| 3 | g.123291365C>T | CA435431366 | ADCY5 | c.1752G>A (p.Glu584=) c.2040G>A (p.Glu680=) n.1478G>A c.3150G>A (p.Glu1050=) c.3075G>A (p.Glu1025=) c.2025G>A (p.Glu675=) c.2049G>A (p.Glu683=) c.2100G>A (p.Glu700=) c.1827G>A (p.Glu609=) c.2151G>A (p.Glu717=) c.2061G>A (p.Glu687=) c.2052G>A (p.Glu684=) | |
| 3 | g.123291366T>A | CA354223876 | ADCY5 | c.1751A>T (p.Glu584Val) c.2039A>T (p.Glu680Val) n.1477A>T c.3149A>T (p.Glu1050Val) c.3074A>T (p.Glu1025Val) c.2024A>T (p.Glu675Val) c.2048A>T (p.Glu683Val) c.2099A>T (p.Glu700Val) c.1826A>T (p.Glu609Val) c.2150A>T (p.Glu717Val) c.2060A>T (p.Glu687Val) c.2051A>T (p.Glu684Val) | |
| 3 | g.123291366T>C | CA354223878 | ADCY5 | c.1751A>G (p.Glu584Gly) c.2039A>G (p.Glu680Gly) n.1477A>G c.3149A>G (p.Glu1050Gly) c.3074A>G (p.Glu1025Gly) c.2024A>G (p.Glu675Gly) c.2048A>G (p.Glu683Gly) c.2099A>G (p.Glu700Gly) c.1826A>G (p.Glu609Gly) c.2150A>G (p.Glu717Gly) c.2060A>G (p.Glu687Gly) c.2051A>G (p.Glu684Gly) | ClinVar dbSNP |
| 3 | g.123291366T>G | CA354223877 | ADCY5 | c.1751A>C (p.Glu584Ala) c.2039A>C (p.Glu680Ala) n.1477A>C c.3149A>C (p.Glu1050Ala) c.3074A>C (p.Glu1025Ala) c.2024A>C (p.Glu675Ala) c.2048A>C (p.Glu683Ala) c.2099A>C (p.Glu700Ala) c.1826A>C (p.Glu609Ala) c.2150A>C (p.Glu717Ala) c.2060A>C (p.Glu687Ala) c.2051A>C (p.Glu684Ala) | ClinVar dbSNP |
| 3 | g.123291366T= | CA1398330458 | ADCY5 | c.1751A= (p.Glu584=) c.2039A= (p.Glu680=) n.1477A= c.3149A= (p.Glu1050=) c.3074A= (p.Glu1025=) c.2024A= (p.Glu675=) c.2048A= (p.Glu683=) c.2099A= (p.Glu700=) c.1826A= (p.Glu609=) c.2150A= (p.Glu717=) c.2060A= (p.Glu687=) c.2051A= (p.Glu684=) | |
| 3 | g.123291367C>A | CA354223879 | ADCY5 | c.1750G>T (p.Glu584Ter) c.2038G>T (p.Glu680Ter) n.1476G>T c.3148G>T (p.Glu1050Ter) c.3073G>T (p.Glu1025Ter) c.2023G>T (p.Glu675Ter) c.2047G>T (p.Glu683Ter) c.2098G>T (p.Glu700Ter) c.1825G>T (p.Glu609Ter) c.2149G>T (p.Glu717Ter) c.2059G>T (p.Glu687Ter) c.2050G>T (p.Glu684Ter) | dbSNP |
| 3 | g.123291367C= | CA1398330459 | ADCY5 | c.1750G= (p.Glu584=) c.2038G= (p.Glu680=) n.1476G= c.3148G= (p.Glu1050=) c.3073G= (p.Glu1025=) c.2023G= (p.Glu675=) c.2047G= (p.Glu683=) c.2098G= (p.Glu700=) c.1825G= (p.Glu609=) c.2149G= (p.Glu717=) c.2059G= (p.Glu687=) c.2050G= (p.Glu684=) | |
| 3 | g.123291367C>G | CA354223880 | ADCY5 | c.1750G>C (p.Glu584Gln) c.2038G>C (p.Glu680Gln) n.1476G>C c.3148G>C (p.Glu1050Gln) c.3073G>C (p.Glu1025Gln) c.2023G>C (p.Glu675Gln) c.2047G>C (p.Glu683Gln) c.2098G>C (p.Glu700Gln) c.1825G>C (p.Glu609Gln) c.2149G>C (p.Glu717Gln) c.2059G>C (p.Glu687Gln) c.2050G>C (p.Glu684Gln) | |
| 3 | g.123291367C>T | CA354223881 | ADCY5 | c.1750G>A (p.Glu584Lys) c.2038G>A (p.Glu680Lys) n.1476G>A c.3148G>A (p.Glu1050Lys) c.3073G>A (p.Glu1025Lys) c.2023G>A (p.Glu675Lys) c.2047G>A (p.Glu683Lys) c.2098G>A (p.Glu700Lys) c.1825G>A (p.Glu609Lys) c.2149G>A (p.Glu717Lys) c.2059G>A (p.Glu687Lys) c.2050G>A (p.Glu684Lys) | ClinVar dbSNP |
| 3 | g.123291367_123291368insGCCCGTCGC | CA2519265323 | ADCY5 | c.1750_1751insCGACGGGCG (p.Glu583_Glu584insAlaThrGly) c.2038_2039insCGACGGGCG (p.Glu679_Glu680insAlaThrGly) n.1476_1477insCGACGGGCG c.3148_3149insCGACGGGCG (p.Glu1049_Glu1050insAlaThrGly) c.3073_3074insCGACGGGCG (p.Glu1024_Glu1025insAlaThrGly) c.2023_2024insCGACGGGCG (p.Glu674_Glu675insAlaThrGly) c.2047_2048insCGACGGGCG (p.Glu682_Glu683insAlaThrGly) c.2098_2099insCGACGGGCG (p.Glu699_Glu700insAlaThrGly) c.1825_1826insCGACGGGCG (p.Glu608_Glu609insAlaThrGly) c.2149_2150insCGACGGGCG (p.Glu716_Glu717insAlaThrGly) c.2059_2060insCGACGGGCG (p.Glu686_Glu687insAlaThrGly) c.2050_2051insCGACGGGCG (p.Glu683_Glu684insAlaThrGly) |