| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.123291105C>A | CA2667290327 | ADCY5 | c.2004+8G>T (n.2004+8G>T) c.2292+8G>T (n.2292+8G>T) n.1730+8G>T c.3402+8G>T (n.3402+8G>T) c.3327+8G>T (n.3327+8G>T) c.2277+8G>T (n.2277+8G>T) c.2301+8G>T (n.2301+8G>T) c.2352+8G>T (n.2352+8G>T) c.2079+8G>T (n.2079+8G>T) c.2403+8G>T (n.2403+8G>T) c.2313+8G>T (n.2313+8G>T) c.2304+8G>T (n.2304+8G>T) | gnomAD v4 |
| 3 | g.123291105C= | CA1398330356 | ADCY5 | c.2004+8G= (n.2004+8G=) c.2292+8G= (n.2292+8G=) n.1730+8G= c.3402+8G= (n.3402+8G=) c.3327+8G= (n.3327+8G=) c.2277+8G= (n.2277+8G=) c.2301+8G= (n.2301+8G=) c.2352+8G= (n.2352+8G=) c.2079+8G= (n.2079+8G=) c.2403+8G= (n.2403+8G=) c.2313+8G= (n.2313+8G=) c.2304+8G= (n.2304+8G=) | |
| 3 | g.123291105C>T | CA898158910 | ADCY5 | c.2004+8G>A (n.2004+8G>A) c.2292+8G>A (n.2292+8G>A) n.1730+8G>A c.3402+8G>A (n.3402+8G>A) c.3327+8G>A (n.3327+8G>A) c.2277+8G>A (n.2277+8G>A) c.2301+8G>A (n.2301+8G>A) c.2352+8G>A (n.2352+8G>A) c.2079+8G>A (n.2079+8G>A) c.2403+8G>A (n.2403+8G>A) c.2313+8G>A (n.2313+8G>A) c.2304+8G>A (n.2304+8G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.123291106T>C | CA2576807 | ADCY5 | c.2004+7A>G (n.2004+7A>G) c.2292+7A>G (n.2292+7A>G) n.1730+7A>G c.3402+7A>G (n.3402+7A>G) c.3327+7A>G (n.3327+7A>G) c.2277+7A>G (n.2277+7A>G) c.2301+7A>G (n.2301+7A>G) c.2352+7A>G (n.2352+7A>G) c.2079+7A>G (n.2079+7A>G) c.2403+7A>G (n.2403+7A>G) c.2313+7A>G (n.2313+7A>G) c.2304+7A>G (n.2304+7A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.123291106T= | CA1398330357 | ADCY5 | c.2004+7A= (n.2004+7A=) c.2292+7A= (n.2292+7A=) n.1730+7A= c.3402+7A= (n.3402+7A=) c.3327+7A= (n.3327+7A=) c.2277+7A= (n.2277+7A=) c.2301+7A= (n.2301+7A=) c.2352+7A= (n.2352+7A=) c.2079+7A= (n.2079+7A=) c.2403+7A= (n.2403+7A=) c.2313+7A= (n.2313+7A=) c.2304+7A= (n.2304+7A=) | |
| 3 | g.123291107G>A | CA898158917 | ADCY5 | c.2004+6C>T (n.2004+6C>T) c.2292+6C>T (n.2292+6C>T) n.1730+6C>T c.3402+6C>T (n.3402+6C>T) c.3327+6C>T (n.3327+6C>T) c.2277+6C>T (n.2277+6C>T) c.2301+6C>T (n.2301+6C>T) c.2352+6C>T (n.2352+6C>T) c.2079+6C>T (n.2079+6C>T) c.2403+6C>T (n.2403+6C>T) c.2313+6C>T (n.2313+6C>T) c.2304+6C>T (n.2304+6C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.123291107G= | CA1398330358 | ADCY5 | c.2004+6C= (n.2004+6C=) c.2292+6C= (n.2292+6C=) n.1730+6C= c.3402+6C= (n.3402+6C=) c.3327+6C= (n.3327+6C=) c.2277+6C= (n.2277+6C=) c.2301+6C= (n.2301+6C=) c.2352+6C= (n.2352+6C=) c.2079+6C= (n.2079+6C=) c.2403+6C= (n.2403+6C=) c.2313+6C= (n.2313+6C=) c.2304+6C= (n.2304+6C=) | |
| 3 | g.123291108T>G | CA2576808 | ADCY5 | c.2004+5A>C (n.2004+5A>C) c.2292+5A>C (n.2292+5A>C) n.1730+5A>C c.3402+5A>C (n.3402+5A>C) c.3327+5A>C (n.3327+5A>C) c.2277+5A>C (n.2277+5A>C) c.2301+5A>C (n.2301+5A>C) c.2352+5A>C (n.2352+5A>C) c.2079+5A>C (n.2079+5A>C) c.2403+5A>C (n.2403+5A>C) c.2313+5A>C (n.2313+5A>C) c.2304+5A>C (n.2304+5A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.123291108T= | CA1398330359 | ADCY5 | c.2004+5A= (n.2004+5A=) c.2292+5A= (n.2292+5A=) n.1730+5A= c.3402+5A= (n.3402+5A=) c.3327+5A= (n.3327+5A=) c.2277+5A= (n.2277+5A=) c.2301+5A= (n.2301+5A=) c.2352+5A= (n.2352+5A=) c.2079+5A= (n.2079+5A=) c.2403+5A= (n.2403+5A=) c.2313+5A= (n.2313+5A=) c.2304+5A= (n.2304+5A=) | |
| 3 | g.123291110C= | CA1398330360 | ADCY5 | c.2004+3G= (n.2004+3G=) c.2292+3G= (n.2292+3G=) n.1730+3G= c.3402+3G= (n.3402+3G=) c.3327+3G= (n.3327+3G=) c.2277+3G= (n.2277+3G=) c.2301+3G= (n.2301+3G=) c.2352+3G= (n.2352+3G=) c.2079+3G= (n.2079+3G=) c.2403+3G= (n.2403+3G=) c.2313+3G= (n.2313+3G=) c.2304+3G= (n.2304+3G=) | |
| 3 | g.123291110C>T | CA2576809 | ADCY5 | c.2004+3G>A (n.2004+3G>A) c.2292+3G>A (n.2292+3G>A) n.1730+3G>A c.3402+3G>A (n.3402+3G>A) c.3327+3G>A (n.3327+3G>A) c.2277+3G>A (n.2277+3G>A) c.2301+3G>A (n.2301+3G>A) c.2352+3G>A (n.2352+3G>A) c.2079+3G>A (n.2079+3G>A) c.2403+3G>A (n.2403+3G>A) c.2313+3G>A (n.2313+3G>A) c.2304+3G>A (n.2304+3G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.123291111A= | CA1398330361 | ADCY5 | c.2004+2T= (n.2004+2T=) c.2292+2T= (n.2292+2T=) n.1730+2T= c.3402+2T= (n.3402+2T=) c.3327+2T= (n.3327+2T=) c.2277+2T= (n.2277+2T=) c.2301+2T= (n.2301+2T=) c.2352+2T= (n.2352+2T=) c.2079+2T= (n.2079+2T=) c.2403+2T= (n.2403+2T=) c.2313+2T= (n.2313+2T=) c.2304+2T= (n.2304+2T=) | |
| 3 | g.123291111A>C | CA354223305 | ADCY5 | c.2004+2T>G (n.2004+2T>G) c.2292+2T>G (n.2292+2T>G) n.1730+2T>G c.3402+2T>G (n.3402+2T>G) c.3327+2T>G (n.3327+2T>G) c.2277+2T>G (n.2277+2T>G) c.2301+2T>G (n.2301+2T>G) c.2352+2T>G (n.2352+2T>G) c.2079+2T>G (n.2079+2T>G) c.2403+2T>G (n.2403+2T>G) c.2313+2T>G (n.2313+2T>G) c.2304+2T>G (n.2304+2T>G) | dbSNP |
| 3 | g.123291111A>G | CA354223306 | ADCY5 | c.2004+2T>C (n.2004+2T>C) c.2292+2T>C (n.2292+2T>C) n.1730+2T>C c.3402+2T>C (n.3402+2T>C) c.3327+2T>C (n.3327+2T>C) c.2277+2T>C (n.2277+2T>C) c.2301+2T>C (n.2301+2T>C) c.2352+2T>C (n.2352+2T>C) c.2079+2T>C (n.2079+2T>C) c.2403+2T>C (n.2403+2T>C) c.2313+2T>C (n.2313+2T>C) c.2304+2T>C (n.2304+2T>C) | |
| 3 | g.123291111A>T | CA354223307 | ADCY5 | c.2004+2T>A (n.2004+2T>A) c.2292+2T>A (n.2292+2T>A) n.1730+2T>A c.3402+2T>A (n.3402+2T>A) c.3327+2T>A (n.3327+2T>A) c.2277+2T>A (n.2277+2T>A) c.2301+2T>A (n.2301+2T>A) c.2352+2T>A (n.2352+2T>A) c.2079+2T>A (n.2079+2T>A) c.2403+2T>A (n.2403+2T>A) c.2313+2T>A (n.2313+2T>A) c.2304+2T>A (n.2304+2T>A) | |
| 3 | g.123291112C>A | CA354223308 | ADCY5 | c.2004+1G>T (n.2004+1G>T) c.2292+1G>T (n.2292+1G>T) n.1730+1G>T c.3402+1G>T (n.3402+1G>T) c.3327+1G>T (n.3327+1G>T) c.2277+1G>T (n.2277+1G>T) c.2301+1G>T (n.2301+1G>T) c.2352+1G>T (n.2352+1G>T) c.2079+1G>T (n.2079+1G>T) c.2403+1G>T (n.2403+1G>T) c.2313+1G>T (n.2313+1G>T) c.2304+1G>T (n.2304+1G>T) | |
| 3 | g.123291112C>G | CA354223310 | ADCY5 | c.2004+1G>C (n.2004+1G>C) c.2292+1G>C (n.2292+1G>C) n.1730+1G>C c.3402+1G>C (n.3402+1G>C) c.3327+1G>C (n.3327+1G>C) c.2277+1G>C (n.2277+1G>C) c.2301+1G>C (n.2301+1G>C) c.2352+1G>C (n.2352+1G>C) c.2079+1G>C (n.2079+1G>C) c.2403+1G>C (n.2403+1G>C) c.2313+1G>C (n.2313+1G>C) c.2304+1G>C (n.2304+1G>C) | |
| 3 | g.123291112C>T | CA354223309 | ADCY5 | c.2004+1G>A (n.2004+1G>A) c.2292+1G>A (n.2292+1G>A) n.1730+1G>A c.3402+1G>A (n.3402+1G>A) c.3327+1G>A (n.3327+1G>A) c.2277+1G>A (n.2277+1G>A) c.2301+1G>A (n.2301+1G>A) c.2352+1G>A (n.2352+1G>A) c.2079+1G>A (n.2079+1G>A) c.2403+1G>A (n.2403+1G>A) c.2313+1G>A (n.2313+1G>A) c.2304+1G>A (n.2304+1G>A) | |
| 3 | g.123291113C>A | CA354223311 | ADCY5 | c.2004G>T (p.Glu668Asp) c.2292G>T (p.Glu764Asp) n.1730G>T c.3402G>T (p.Glu1134Asp) c.3327G>T (p.Glu1109Asp) c.2277G>T (p.Glu759Asp) c.2301G>T (p.Glu767Asp) c.2352G>T (p.Glu784Asp) c.2079G>T (p.Glu693Asp) c.2403G>T (p.Glu801Asp) c.2313G>T (p.Glu771Asp) c.2304G>T (p.Glu768Asp) | gnomAD v4 |
| 3 | g.123291113C>G | CA354223312 | ADCY5 | c.2004G>C (p.Glu668Asp) c.2292G>C (p.Glu764Asp) n.1730G>C c.3402G>C (p.Glu1134Asp) c.3327G>C (p.Glu1109Asp) c.2277G>C (p.Glu759Asp) c.2301G>C (p.Glu767Asp) c.2352G>C (p.Glu784Asp) c.2079G>C (p.Glu693Asp) c.2403G>C (p.Glu801Asp) c.2313G>C (p.Glu771Asp) c.2304G>C (p.Glu768Asp) | |
| 3 | g.123291113C>T | CA435431282 | ADCY5 | c.2004G>A (p.Glu668=) c.2292G>A (p.Glu764=) n.1730G>A c.3402G>A (p.Glu1134=) c.3327G>A (p.Glu1109=) c.2277G>A (p.Glu759=) c.2301G>A (p.Glu767=) c.2352G>A (p.Glu784=) c.2079G>A (p.Glu693=) c.2403G>A (p.Glu801=) c.2313G>A (p.Glu771=) c.2304G>A (p.Glu768=) | |
| 3 | g.123291114T>A | CA354223313 | ADCY5 | c.2003A>T (p.Glu668Val) c.2291A>T (p.Glu764Val) n.1729A>T c.3401A>T (p.Glu1134Val) c.3326A>T (p.Glu1109Val) c.2276A>T (p.Glu759Val) c.2300A>T (p.Glu767Val) c.2351A>T (p.Glu784Val) c.2078A>T (p.Glu693Val) c.2402A>T (p.Glu801Val) c.2312A>T (p.Glu771Val) c.2303A>T (p.Glu768Val) | |
| 3 | g.123291114T>C | CA354223314 | ADCY5 | c.2003A>G (p.Glu668Gly) c.2291A>G (p.Glu764Gly) n.1729A>G c.3401A>G (p.Glu1134Gly) c.3326A>G (p.Glu1109Gly) c.2276A>G (p.Glu759Gly) c.2300A>G (p.Glu767Gly) c.2351A>G (p.Glu784Gly) c.2078A>G (p.Glu693Gly) c.2402A>G (p.Glu801Gly) c.2312A>G (p.Glu771Gly) c.2303A>G (p.Glu768Gly) | |
| 3 | g.123291114T>G | CA354223315 | ADCY5 | c.2003A>C (p.Glu668Ala) c.2291A>C (p.Glu764Ala) n.1729A>C c.3401A>C (p.Glu1134Ala) c.3326A>C (p.Glu1109Ala) c.2276A>C (p.Glu759Ala) c.2300A>C (p.Glu767Ala) c.2351A>C (p.Glu784Ala) c.2078A>C (p.Glu693Ala) c.2402A>C (p.Glu801Ala) c.2312A>C (p.Glu771Ala) c.2303A>C (p.Glu768Ala) | |
| 3 | g.123291115C>A | CA354223316 | ADCY5 | c.2002G>T (p.Glu668Ter) c.2290G>T (p.Glu764Ter) n.1728G>T c.3400G>T (p.Glu1134Ter) c.3325G>T (p.Glu1109Ter) c.2275G>T (p.Glu759Ter) c.2299G>T (p.Glu767Ter) c.2350G>T (p.Glu784Ter) c.2077G>T (p.Glu693Ter) c.2401G>T (p.Glu801Ter) c.2311G>T (p.Glu771Ter) c.2302G>T (p.Glu768Ter) | dbSNP |
| 3 | g.123291115C= | CA1398330362 | ADCY5 | c.2002G= (p.Glu668=) c.2290G= (p.Glu764=) n.1728G= c.3400G= (p.Glu1134=) c.3325G= (p.Glu1109=) c.2275G= (p.Glu759=) c.2299G= (p.Glu767=) c.2350G= (p.Glu784=) c.2077G= (p.Glu693=) c.2401G= (p.Glu801=) c.2311G= (p.Glu771=) c.2302G= (p.Glu768=) | |
| 3 | g.123291115C>G | CA354223317 | ADCY5 | c.2002G>C (p.Glu668Gln) c.2290G>C (p.Glu764Gln) n.1728G>C c.3400G>C (p.Glu1134Gln) c.3325G>C (p.Glu1109Gln) c.2275G>C (p.Glu759Gln) c.2299G>C (p.Glu767Gln) c.2350G>C (p.Glu784Gln) c.2077G>C (p.Glu693Gln) c.2401G>C (p.Glu801Gln) c.2311G>C (p.Glu771Gln) c.2302G>C (p.Glu768Gln) | |
| 3 | g.123291115C>T | CA354223318 | ADCY5 | c.2002G>A (p.Glu668Lys) c.2290G>A (p.Glu764Lys) n.1728G>A c.3400G>A (p.Glu1134Lys) c.3325G>A (p.Glu1109Lys) c.2275G>A (p.Glu759Lys) c.2299G>A (p.Glu767Lys) c.2350G>A (p.Glu784Lys) c.2077G>A (p.Glu693Lys) c.2401G>A (p.Glu801Lys) c.2311G>A (p.Glu771Lys) c.2302G>A (p.Glu768Lys) | |
| 3 | g.123291116A= | CA1398330363 | ADCY5 | c.2001T= (p.Asp667=) c.2289T= (p.Asp763=) n.1727T= c.3399T= (p.Asp1133=) c.3324T= (p.Asp1108=) c.2274T= (p.Asp758=) c.2298T= (p.Asp766=) c.2349T= (p.Asp783=) c.2076T= (p.Asp692=) c.2400T= (p.Asp800=) c.2310T= (p.Asp770=) c.2301T= (p.Asp767=) | |
| 3 | g.123291116A>C | CA354223319 | ADCY5 | c.2001T>G (p.Asp667Glu) c.2289T>G (p.Asp763Glu) n.1727T>G c.3399T>G (p.Asp1133Glu) c.3324T>G (p.Asp1108Glu) c.2274T>G (p.Asp758Glu) c.2298T>G (p.Asp766Glu) c.2349T>G (p.Asp783Glu) c.2076T>G (p.Asp692Glu) c.2400T>G (p.Asp800Glu) c.2310T>G (p.Asp770Glu) c.2301T>G (p.Asp767Glu) | |
| 3 | g.123291116A>G | CA435431285 | ADCY5 | c.2001T>C (p.Asp667=) c.2289T>C (p.Asp763=) n.1727T>C c.3399T>C (p.Asp1133=) c.3324T>C (p.Asp1108=) c.2274T>C (p.Asp758=) c.2298T>C (p.Asp766=) c.2349T>C (p.Asp783=) c.2076T>C (p.Asp692=) c.2400T>C (p.Asp800=) c.2310T>C (p.Asp770=) c.2301T>C (p.Asp767=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.123291116A>T | CA354223320 | ADCY5 | c.2001T>A (p.Asp667Glu) c.2289T>A (p.Asp763Glu) n.1727T>A c.3399T>A (p.Asp1133Glu) c.3324T>A (p.Asp1108Glu) c.2274T>A (p.Asp758Glu) c.2298T>A (p.Asp766Glu) c.2349T>A (p.Asp783Glu) c.2076T>A (p.Asp692Glu) c.2400T>A (p.Asp800Glu) c.2310T>A (p.Asp770Glu) c.2301T>A (p.Asp767Glu) | |
| 3 | g.123291117T>A | CA354223323 | ADCY5 | c.2000A>T (p.Asp667Val) c.2288A>T (p.Asp763Val) n.1726A>T c.3398A>T (p.Asp1133Val) c.3323A>T (p.Asp1108Val) c.2273A>T (p.Asp758Val) c.2297A>T (p.Asp766Val) c.2348A>T (p.Asp783Val) c.2075A>T (p.Asp692Val) c.2399A>T (p.Asp800Val) c.2309A>T (p.Asp770Val) c.2300A>T (p.Asp767Val) | |
| 3 | g.123291117T>C | CA354223322 | ADCY5 | c.2000A>G (p.Asp667Gly) c.2288A>G (p.Asp763Gly) n.1726A>G c.3398A>G (p.Asp1133Gly) c.3323A>G (p.Asp1108Gly) c.2273A>G (p.Asp758Gly) c.2297A>G (p.Asp766Gly) c.2348A>G (p.Asp783Gly) c.2075A>G (p.Asp692Gly) c.2399A>G (p.Asp800Gly) c.2309A>G (p.Asp770Gly) c.2300A>G (p.Asp767Gly) | |
| 3 | g.123291117T>G | CA354223321 | ADCY5 | c.2000A>C (p.Asp667Ala) c.2288A>C (p.Asp763Ala) n.1726A>C c.3398A>C (p.Asp1133Ala) c.3323A>C (p.Asp1108Ala) c.2273A>C (p.Asp758Ala) c.2297A>C (p.Asp766Ala) c.2348A>C (p.Asp783Ala) c.2075A>C (p.Asp692Ala) c.2399A>C (p.Asp800Ala) c.2309A>C (p.Asp770Ala) c.2300A>C (p.Asp767Ala) | |
| 3 | g.123291118C>A | CA354223324 | ADCY5 | c.1999G>T (p.Asp667Tyr) c.2287G>T (p.Asp763Tyr) n.1725G>T c.3397G>T (p.Asp1133Tyr) c.3322G>T (p.Asp1108Tyr) c.2272G>T (p.Asp758Tyr) c.2296G>T (p.Asp766Tyr) c.2347G>T (p.Asp783Tyr) c.2074G>T (p.Asp692Tyr) c.2398G>T (p.Asp800Tyr) c.2308G>T (p.Asp770Tyr) c.2299G>T (p.Asp767Tyr) | |
| 3 | g.123291118C>G | CA354223325 | ADCY5 | c.1999G>C (p.Asp667His) c.2287G>C (p.Asp763His) n.1725G>C c.3397G>C (p.Asp1133His) c.3322G>C (p.Asp1108His) c.2272G>C (p.Asp758His) c.2296G>C (p.Asp766His) c.2347G>C (p.Asp783His) c.2074G>C (p.Asp692His) c.2398G>C (p.Asp800His) c.2308G>C (p.Asp770His) c.2299G>C (p.Asp767His) | |
| 3 | g.123291118C>T | CA354223326 | ADCY5 | c.1999G>A (p.Asp667Asn) c.2287G>A (p.Asp763Asn) n.1725G>A c.3397G>A (p.Asp1133Asn) c.3322G>A (p.Asp1108Asn) c.2272G>A (p.Asp758Asn) c.2296G>A (p.Asp766Asn) c.2347G>A (p.Asp783Asn) c.2074G>A (p.Asp692Asn) c.2398G>A (p.Asp800Asn) c.2308G>A (p.Asp770Asn) c.2299G>A (p.Asp767Asn) | |
| 3 | g.123291119A>C | CA354223327 | ADCY5 | c.1998T>G (p.Phe666Leu) c.2286T>G (p.Phe762Leu) n.1724T>G c.3396T>G (p.Phe1132Leu) c.3321T>G (p.Phe1107Leu) c.2271T>G (p.Phe757Leu) c.2295T>G (p.Phe765Leu) c.2346T>G (p.Phe782Leu) c.2073T>G (p.Phe691Leu) c.2397T>G (p.Phe799Leu) c.2307T>G (p.Phe769Leu) c.2298T>G (p.Phe766Leu) | |
| 3 | g.123291119A>G | CA435431286 | ADCY5 | c.1998T>C (p.Phe666=) c.2286T>C (p.Phe762=) n.1724T>C c.3396T>C (p.Phe1132=) c.3321T>C (p.Phe1107=) c.2271T>C (p.Phe757=) c.2295T>C (p.Phe765=) c.2346T>C (p.Phe782=) c.2073T>C (p.Phe691=) c.2397T>C (p.Phe799=) c.2307T>C (p.Phe769=) c.2298T>C (p.Phe766=) | gnomAD v4 |
| 3 | g.123291119A>T | CA354223328 | ADCY5 | c.1998T>A (p.Phe666Leu) c.2286T>A (p.Phe762Leu) n.1724T>A c.3396T>A (p.Phe1132Leu) c.3321T>A (p.Phe1107Leu) c.2271T>A (p.Phe757Leu) c.2295T>A (p.Phe765Leu) c.2346T>A (p.Phe782Leu) c.2073T>A (p.Phe691Leu) c.2397T>A (p.Phe799Leu) c.2307T>A (p.Phe769Leu) c.2298T>A (p.Phe766Leu) | |
| 3 | g.123291120A>C | CA354223329 | ADCY5 | c.1997T>G (p.Phe666Cys) c.2285T>G (p.Phe762Cys) n.1723T>G c.3395T>G (p.Phe1132Cys) c.3320T>G (p.Phe1107Cys) c.2270T>G (p.Phe757Cys) c.2294T>G (p.Phe765Cys) c.2345T>G (p.Phe782Cys) c.2072T>G (p.Phe691Cys) c.2396T>G (p.Phe799Cys) c.2306T>G (p.Phe769Cys) c.2297T>G (p.Phe766Cys) | |
| 3 | g.123291120A>G | CA354223330 | ADCY5 | c.1997T>C (p.Phe666Ser) c.2285T>C (p.Phe762Ser) n.1723T>C c.3395T>C (p.Phe1132Ser) c.3320T>C (p.Phe1107Ser) c.2270T>C (p.Phe757Ser) c.2294T>C (p.Phe765Ser) c.2345T>C (p.Phe782Ser) c.2072T>C (p.Phe691Ser) c.2396T>C (p.Phe799Ser) c.2306T>C (p.Phe769Ser) c.2297T>C (p.Phe766Ser) | |
| 3 | g.123291120A>T | CA354223331 | ADCY5 | c.1997T>A (p.Phe666Tyr) c.2285T>A (p.Phe762Tyr) n.1723T>A c.3395T>A (p.Phe1132Tyr) c.3320T>A (p.Phe1107Tyr) c.2270T>A (p.Phe757Tyr) c.2294T>A (p.Phe765Tyr) c.2345T>A (p.Phe782Tyr) c.2072T>A (p.Phe691Tyr) c.2396T>A (p.Phe799Tyr) c.2306T>A (p.Phe769Tyr) c.2297T>A (p.Phe766Tyr) | |
| 3 | g.123291121A>C | CA354223332 | ADCY5 | c.1996T>G (p.Phe666Val) c.2284T>G (p.Phe762Val) n.1722T>G c.3394T>G (p.Phe1132Val) c.3319T>G (p.Phe1107Val) c.2269T>G (p.Phe757Val) c.2293T>G (p.Phe765Val) c.2344T>G (p.Phe782Val) c.2071T>G (p.Phe691Val) c.2395T>G (p.Phe799Val) c.2305T>G (p.Phe769Val) c.2296T>G (p.Phe766Val) | |
| 3 | g.123291121A>G | CA354223333 | ADCY5 | c.1996T>C (p.Phe666Leu) c.2284T>C (p.Phe762Leu) n.1722T>C c.3394T>C (p.Phe1132Leu) c.3319T>C (p.Phe1107Leu) c.2269T>C (p.Phe757Leu) c.2293T>C (p.Phe765Leu) c.2344T>C (p.Phe782Leu) c.2071T>C (p.Phe691Leu) c.2395T>C (p.Phe799Leu) c.2305T>C (p.Phe769Leu) c.2296T>C (p.Phe766Leu) | |
| 3 | g.123291121A>T | CA354223334 | ADCY5 | c.1996T>A (p.Phe666Ile) c.2284T>A (p.Phe762Ile) n.1722T>A c.3394T>A (p.Phe1132Ile) c.3319T>A (p.Phe1107Ile) c.2269T>A (p.Phe757Ile) c.2293T>A (p.Phe765Ile) c.2344T>A (p.Phe782Ile) c.2071T>A (p.Phe691Ile) c.2395T>A (p.Phe799Ile) c.2305T>A (p.Phe769Ile) c.2296T>A (p.Phe766Ile) | |
| 3 | g.123291122G>A | CA435431287 | ADCY5 | c.1995C>T (p.Asp665=) c.2283C>T (p.Asp761=) n.1721C>T c.3393C>T (p.Asp1131=) c.3318C>T (p.Asp1106=) c.2268C>T (p.Asp756=) c.2292C>T (p.Asp764=) c.2343C>T (p.Asp781=) c.2070C>T (p.Asp690=) c.2394C>T (p.Asp798=) c.2304C>T (p.Asp768=) c.2295C>T (p.Asp765=) | |
| 3 | g.123291122G>C | CA354223335 | ADCY5 | c.1995C>G (p.Asp665Glu) c.2283C>G (p.Asp761Glu) n.1721C>G c.3393C>G (p.Asp1131Glu) c.3318C>G (p.Asp1106Glu) c.2268C>G (p.Asp756Glu) c.2292C>G (p.Asp764Glu) c.2343C>G (p.Asp781Glu) c.2070C>G (p.Asp690Glu) c.2394C>G (p.Asp798Glu) c.2304C>G (p.Asp768Glu) c.2295C>G (p.Asp765Glu) | |
| 3 | g.123291122G>T | CA354223336 | ADCY5 | c.1995C>A (p.Asp665Glu) c.2283C>A (p.Asp761Glu) n.1721C>A c.3393C>A (p.Asp1131Glu) c.3318C>A (p.Asp1106Glu) c.2268C>A (p.Asp756Glu) c.2292C>A (p.Asp764Glu) c.2343C>A (p.Asp781Glu) c.2070C>A (p.Asp690Glu) c.2394C>A (p.Asp798Glu) c.2304C>A (p.Asp768Glu) c.2295C>A (p.Asp765Glu) | |
| 3 | g.123291123T>A | CA354223339 | ADCY5 | c.1994A>T (p.Asp665Val) c.2282A>T (p.Asp761Val) n.1720A>T c.3392A>T (p.Asp1131Val) c.3317A>T (p.Asp1106Val) c.2267A>T (p.Asp756Val) c.2291A>T (p.Asp764Val) c.2342A>T (p.Asp781Val) c.2069A>T (p.Asp690Val) c.2393A>T (p.Asp798Val) c.2303A>T (p.Asp768Val) c.2294A>T (p.Asp765Val) | |
| 3 | g.123291123T>C | CA354223337 | ADCY5 | c.1994A>G (p.Asp665Gly) c.2282A>G (p.Asp761Gly) n.1720A>G c.3392A>G (p.Asp1131Gly) c.3317A>G (p.Asp1106Gly) c.2267A>G (p.Asp756Gly) c.2291A>G (p.Asp764Gly) c.2342A>G (p.Asp781Gly) c.2069A>G (p.Asp690Gly) c.2393A>G (p.Asp798Gly) c.2303A>G (p.Asp768Gly) c.2294A>G (p.Asp765Gly) | |
| 3 | g.123291123T>G | CA354223338 | ADCY5 | c.1994A>C (p.Asp665Ala) c.2282A>C (p.Asp761Ala) n.1720A>C c.3392A>C (p.Asp1131Ala) c.3317A>C (p.Asp1106Ala) c.2267A>C (p.Asp756Ala) c.2291A>C (p.Asp764Ala) c.2342A>C (p.Asp781Ala) c.2069A>C (p.Asp690Ala) c.2393A>C (p.Asp798Ala) c.2303A>C (p.Asp768Ala) c.2294A>C (p.Asp765Ala) | |
| 3 | g.123291124del | CA2667290329 | ADCY5 | c.1993del (p.Asp665ThrfsTer?) c.2281del (p.Asp761ThrfsTer?) n.1719del c.3391del (p.Asp1131ThrfsTer?) c.3316del (p.Asp1106ThrfsTer?) c.2266del (p.Asp756ThrfsTer?) c.2290del (p.Asp764ThrfsTer?) c.2341del (p.Asp781ThrfsTer?) c.2068del (p.Asp690ThrfsTer?) c.2392del (p.Asp798ThrfsTer?) c.2302del (p.Asp768ThrfsTer?) c.2293del (p.Asp765ThrfsTer?) | gnomAD v4 |
| 3 | g.123291124C>A | CA354223340 | ADCY5 | c.1993G>T (p.Asp665Tyr) c.2281G>T (p.Asp761Tyr) n.1719G>T c.3391G>T (p.Asp1131Tyr) c.3316G>T (p.Asp1106Tyr) c.2266G>T (p.Asp756Tyr) c.2290G>T (p.Asp764Tyr) c.2341G>T (p.Asp781Tyr) c.2068G>T (p.Asp690Tyr) c.2392G>T (p.Asp798Tyr) c.2302G>T (p.Asp768Tyr) c.2293G>T (p.Asp765Tyr) | |
| 3 | g.123291124C= | CA1398330364 | ADCY5 | c.1993G= (p.Asp665=) c.2281G= (p.Asp761=) n.1719G= c.3391G= (p.Asp1131=) c.3316G= (p.Asp1106=) c.2266G= (p.Asp756=) c.2290G= (p.Asp764=) c.2341G= (p.Asp781=) c.2068G= (p.Asp690=) c.2392G= (p.Asp798=) c.2302G= (p.Asp768=) c.2293G= (p.Asp765=) | |
| 3 | g.123291124C>G | CA354223341 | ADCY5 | c.1993G>C (p.Asp665His) c.2281G>C (p.Asp761His) n.1719G>C c.3391G>C (p.Asp1131His) c.3316G>C (p.Asp1106His) c.2266G>C (p.Asp756His) c.2290G>C (p.Asp764His) c.2341G>C (p.Asp781His) c.2068G>C (p.Asp690His) c.2392G>C (p.Asp798His) c.2302G>C (p.Asp768His) c.2293G>C (p.Asp765His) | |
| 3 | g.123291124C>T | CA354223342 | ADCY5 | c.1993G>A (p.Asp665Asn) c.2281G>A (p.Asp761Asn) n.1719G>A c.3391G>A (p.Asp1131Asn) c.3316G>A (p.Asp1106Asn) c.2266G>A (p.Asp756Asn) c.2290G>A (p.Asp764Asn) c.2341G>A (p.Asp781Asn) c.2068G>A (p.Asp690Asn) c.2392G>A (p.Asp798Asn) c.2302G>A (p.Asp768Asn) c.2293G>A (p.Asp765Asn) | dbSNP |
| 3 | g.123291125A>C | CA435431289 | ADCY5 | c.1992T>G (p.Ala664=) c.2280T>G (p.Ala760=) n.1718T>G c.3390T>G (p.Ala1130=) c.3315T>G (p.Ala1105=) c.2265T>G (p.Ala755=) c.2289T>G (p.Ala763=) c.2340T>G (p.Ala780=) c.2067T>G (p.Ala689=) c.2391T>G (p.Ala797=) c.2301T>G (p.Ala767=) c.2292T>G (p.Ala764=) | |
| 3 | g.123291125A>G | CA435431290 | ADCY5 | c.1992T>C (p.Ala664=) c.2280T>C (p.Ala760=) n.1718T>C c.3390T>C (p.Ala1130=) c.3315T>C (p.Ala1105=) c.2265T>C (p.Ala755=) c.2289T>C (p.Ala763=) c.2340T>C (p.Ala780=) c.2067T>C (p.Ala689=) c.2391T>C (p.Ala797=) c.2301T>C (p.Ala767=) c.2292T>C (p.Ala764=) | |
| 3 | g.123291125A>T | CA435431291 | ADCY5 | c.1992T>A (p.Ala664=) c.2280T>A (p.Ala760=) n.1718T>A c.3390T>A (p.Ala1130=) c.3315T>A (p.Ala1105=) c.2265T>A (p.Ala755=) c.2289T>A (p.Ala763=) c.2340T>A (p.Ala780=) c.2067T>A (p.Ala689=) c.2391T>A (p.Ala797=) c.2301T>A (p.Ala767=) c.2292T>A (p.Ala764=) | |
| 3 | g.123291126G>A | CA354223343 | ADCY5 | c.1991C>T (p.Ala664Val) c.2279C>T (p.Ala760Val) n.1717C>T c.3389C>T (p.Ala1130Val) c.3314C>T (p.Ala1105Val) c.2264C>T (p.Ala755Val) c.2288C>T (p.Ala763Val) c.2339C>T (p.Ala780Val) c.2066C>T (p.Ala689Val) c.2390C>T (p.Ala797Val) c.2300C>T (p.Ala767Val) c.2291C>T (p.Ala764Val) | dbSNP |
| 3 | g.123291126G>C | CA354223344 | ADCY5 | c.1991C>G (p.Ala664Gly) c.2279C>G (p.Ala760Gly) n.1717C>G c.3389C>G (p.Ala1130Gly) c.3314C>G (p.Ala1105Gly) c.2264C>G (p.Ala755Gly) c.2288C>G (p.Ala763Gly) c.2339C>G (p.Ala780Gly) c.2066C>G (p.Ala689Gly) c.2390C>G (p.Ala797Gly) c.2300C>G (p.Ala767Gly) c.2291C>G (p.Ala764Gly) | |
| 3 | g.123291126G>T | CA354223345 | ADCY5 | c.1991C>A (p.Ala664Asp) c.2279C>A (p.Ala760Asp) n.1717C>A c.3389C>A (p.Ala1130Asp) c.3314C>A (p.Ala1105Asp) c.2264C>A (p.Ala755Asp) c.2288C>A (p.Ala763Asp) c.2339C>A (p.Ala780Asp) c.2066C>A (p.Ala689Asp) c.2390C>A (p.Ala797Asp) c.2300C>A (p.Ala767Asp) c.2291C>A (p.Ala764Asp) | |
| 3 | g.123291127C>A | CA354223346 | ADCY5 | c.1990G>T (p.Ala664Ser) c.2278G>T (p.Ala760Ser) n.1716G>T c.3388G>T (p.Ala1130Ser) c.3313G>T (p.Ala1105Ser) c.2263G>T (p.Ala755Ser) c.2287G>T (p.Ala763Ser) c.2338G>T (p.Ala780Ser) c.2065G>T (p.Ala689Ser) c.2389G>T (p.Ala797Ser) c.2299G>T (p.Ala767Ser) c.2290G>T (p.Ala764Ser) | |
| 3 | g.123291127C= | CA1398330365 | ADCY5 | c.1990G= (p.Ala664=) c.2278G= (p.Ala760=) n.1716G= c.3388G= (p.Ala1130=) c.3313G= (p.Ala1105=) c.2263G= (p.Ala755=) c.2287G= (p.Ala763=) c.2338G= (p.Ala780=) c.2065G= (p.Ala689=) c.2389G= (p.Ala797=) c.2299G= (p.Ala767=) c.2290G= (p.Ala764=) | |
| 3 | g.123291127C>G | CA354223347 | ADCY5 | c.1990G>C (p.Ala664Pro) c.2278G>C (p.Ala760Pro) n.1716G>C c.3388G>C (p.Ala1130Pro) c.3313G>C (p.Ala1105Pro) c.2263G>C (p.Ala755Pro) c.2287G>C (p.Ala763Pro) c.2338G>C (p.Ala780Pro) c.2065G>C (p.Ala689Pro) c.2389G>C (p.Ala797Pro) c.2299G>C (p.Ala767Pro) c.2290G>C (p.Ala764Pro) | |
| 3 | g.123291127C>T | CA354223348 | ADCY5 | c.1990G>A (p.Ala664Thr) c.2278G>A (p.Ala760Thr) n.1716G>A c.3388G>A (p.Ala1130Thr) c.3313G>A (p.Ala1105Thr) c.2263G>A (p.Ala755Thr) c.2287G>A (p.Ala763Thr) c.2338G>A (p.Ala780Thr) c.2065G>A (p.Ala689Thr) c.2389G>A (p.Ala797Thr) c.2299G>A (p.Ala767Thr) c.2290G>A (p.Ala764Thr) | dbSNP gnomAD v4 COSMIC |
| 3 | g.123291128G>A | CA2576810 | ADCY5 | c.1989C>T (p.Ile663=) c.2277C>T (p.Ile759=) n.1715C>T c.3387C>T (p.Ile1129=) c.3312C>T (p.Ile1104=) c.2262C>T (p.Ile754=) c.2286C>T (p.Ile762=) c.2337C>T (p.Ile779=) c.2064C>T (p.Ile688=) c.2388C>T (p.Ile796=) c.2298C>T (p.Ile766=) c.2289C>T (p.Ile763=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.123291128G>C | CA354223349 | ADCY5 | c.1989C>G (p.Ile663Met) c.2277C>G (p.Ile759Met) n.1715C>G c.3387C>G (p.Ile1129Met) c.3312C>G (p.Ile1104Met) c.2262C>G (p.Ile754Met) c.2286C>G (p.Ile762Met) c.2337C>G (p.Ile779Met) c.2064C>G (p.Ile688Met) c.2388C>G (p.Ile796Met) c.2298C>G (p.Ile766Met) c.2289C>G (p.Ile763Met) | |
| 3 | g.123291128G= | CA1398330366 | ADCY5 | c.1989C= (p.Ile663=) c.2277C= (p.Ile759=) n.1715C= c.3387C= (p.Ile1129=) c.3312C= (p.Ile1104=) c.2262C= (p.Ile754=) c.2286C= (p.Ile762=) c.2337C= (p.Ile779=) c.2064C= (p.Ile688=) c.2388C= (p.Ile796=) c.2298C= (p.Ile766=) c.2289C= (p.Ile763=) | |
| 3 | g.123291128G>T | CA435431292 | ADCY5 | c.1989C>A (p.Ile663=) c.2277C>A (p.Ile759=) n.1715C>A c.3387C>A (p.Ile1129=) c.3312C>A (p.Ile1104=) c.2262C>A (p.Ile754=) c.2286C>A (p.Ile762=) c.2337C>A (p.Ile779=) c.2064C>A (p.Ile688=) c.2388C>A (p.Ile796=) c.2298C>A (p.Ile766=) c.2289C>A (p.Ile763=) | dbSNP |
| 3 | g.123291129A>C | CA354223352 | ADCY5 | c.1988T>G (p.Ile663Ser) c.2276T>G (p.Ile759Ser) n.1714T>G c.3386T>G (p.Ile1129Ser) c.3311T>G (p.Ile1104Ser) c.2261T>G (p.Ile754Ser) c.2285T>G (p.Ile762Ser) c.2336T>G (p.Ile779Ser) c.2063T>G (p.Ile688Ser) c.2387T>G (p.Ile796Ser) c.2297T>G (p.Ile766Ser) c.2288T>G (p.Ile763Ser) | |
| 3 | g.123291129A>G | CA354223351 | ADCY5 | c.1988T>C (p.Ile663Thr) c.2276T>C (p.Ile759Thr) n.1714T>C c.3386T>C (p.Ile1129Thr) c.3311T>C (p.Ile1104Thr) c.2261T>C (p.Ile754Thr) c.2285T>C (p.Ile762Thr) c.2336T>C (p.Ile779Thr) c.2063T>C (p.Ile688Thr) c.2387T>C (p.Ile796Thr) c.2297T>C (p.Ile766Thr) c.2288T>C (p.Ile763Thr) | |
| 3 | g.123291129A>T | CA354223350 | ADCY5 | c.1988T>A (p.Ile663Asn) c.2276T>A (p.Ile759Asn) n.1714T>A c.3386T>A (p.Ile1129Asn) c.3311T>A (p.Ile1104Asn) c.2261T>A (p.Ile754Asn) c.2285T>A (p.Ile762Asn) c.2336T>A (p.Ile779Asn) c.2063T>A (p.Ile688Asn) c.2387T>A (p.Ile796Asn) c.2297T>A (p.Ile766Asn) c.2288T>A (p.Ile763Asn) | |
| 3 | g.123291130T>A | CA354223353 | ADCY5 | c.1987A>T (p.Ile663Phe) c.2275A>T (p.Ile759Phe) n.1713A>T c.3385A>T (p.Ile1129Phe) c.3310A>T (p.Ile1104Phe) c.2260A>T (p.Ile754Phe) c.2284A>T (p.Ile762Phe) c.2335A>T (p.Ile779Phe) c.2062A>T (p.Ile688Phe) c.2386A>T (p.Ile796Phe) c.2296A>T (p.Ile766Phe) c.2287A>T (p.Ile763Phe) | COSMIC |
| 3 | g.123291130T>C | CA354223355 | ADCY5 | c.1987A>G (p.Ile663Val) c.2275A>G (p.Ile759Val) n.1713A>G c.3385A>G (p.Ile1129Val) c.3310A>G (p.Ile1104Val) c.2260A>G (p.Ile754Val) c.2284A>G (p.Ile762Val) c.2335A>G (p.Ile779Val) c.2062A>G (p.Ile688Val) c.2386A>G (p.Ile796Val) c.2296A>G (p.Ile766Val) c.2287A>G (p.Ile763Val) | |
| 3 | g.123291130T>G | CA354223354 | ADCY5 | c.1987A>C (p.Ile663Leu) c.2275A>C (p.Ile759Leu) n.1713A>C c.3385A>C (p.Ile1129Leu) c.3310A>C (p.Ile1104Leu) c.2260A>C (p.Ile754Leu) c.2284A>C (p.Ile762Leu) c.2335A>C (p.Ile779Leu) c.2062A>C (p.Ile688Leu) c.2386A>C (p.Ile796Leu) c.2296A>C (p.Ile766Leu) c.2287A>C (p.Ile763Leu) | |
| 3 | g.123291131G>A | CA435431296 | ADCY5 | c.1986C>T (p.Ile662=) c.2274C>T (p.Ile758=) n.1712C>T c.3384C>T (p.Ile1128=) c.3309C>T (p.Ile1103=) c.2259C>T (p.Ile753=) c.2283C>T (p.Ile761=) c.2334C>T (p.Ile778=) c.2061C>T (p.Ile687=) c.2385C>T (p.Ile795=) c.2295C>T (p.Ile765=) c.2286C>T (p.Ile762=) | |
| 3 | g.123291131G>C | CA354223356 | ADCY5 | c.1986C>G (p.Ile662Met) c.2274C>G (p.Ile758Met) n.1712C>G c.3384C>G (p.Ile1128Met) c.3309C>G (p.Ile1103Met) c.2259C>G (p.Ile753Met) c.2283C>G (p.Ile761Met) c.2334C>G (p.Ile778Met) c.2061C>G (p.Ile687Met) c.2385C>G (p.Ile795Met) c.2295C>G (p.Ile765Met) c.2286C>G (p.Ile762Met) | |
| 3 | g.123291131G>T | CA435431297 | ADCY5 | c.1986C>A (p.Ile662=) c.2274C>A (p.Ile758=) n.1712C>A c.3384C>A (p.Ile1128=) c.3309C>A (p.Ile1103=) c.2259C>A (p.Ile753=) c.2283C>A (p.Ile761=) c.2334C>A (p.Ile778=) c.2061C>A (p.Ile687=) c.2385C>A (p.Ile795=) c.2295C>A (p.Ile765=) c.2286C>A (p.Ile762=) | |
| 3 | g.123291132A>C | CA354223358 | ADCY5 | c.1985T>G (p.Ile662Ser) c.2273T>G (p.Ile758Ser) n.1711T>G c.3383T>G (p.Ile1128Ser) c.3308T>G (p.Ile1103Ser) c.2258T>G (p.Ile753Ser) c.2282T>G (p.Ile761Ser) c.2333T>G (p.Ile778Ser) c.2060T>G (p.Ile687Ser) c.2384T>G (p.Ile795Ser) c.2294T>G (p.Ile765Ser) c.2285T>G (p.Ile762Ser) | |
| 3 | g.123291132A>G | CA354223357 | ADCY5 | c.1985T>C (p.Ile662Thr) c.2273T>C (p.Ile758Thr) n.1711T>C c.3383T>C (p.Ile1128Thr) c.3308T>C (p.Ile1103Thr) c.2258T>C (p.Ile753Thr) c.2282T>C (p.Ile761Thr) c.2333T>C (p.Ile778Thr) c.2060T>C (p.Ile687Thr) c.2384T>C (p.Ile795Thr) c.2294T>C (p.Ile765Thr) c.2285T>C (p.Ile762Thr) | |
| 3 | g.123291132A>T | CA354223359 | ADCY5 | c.1985T>A (p.Ile662Asn) c.2273T>A (p.Ile758Asn) n.1711T>A c.3383T>A (p.Ile1128Asn) c.3308T>A (p.Ile1103Asn) c.2258T>A (p.Ile753Asn) c.2282T>A (p.Ile761Asn) c.2333T>A (p.Ile778Asn) c.2060T>A (p.Ile687Asn) c.2384T>A (p.Ile795Asn) c.2294T>A (p.Ile765Asn) c.2285T>A (p.Ile762Asn) | |
| 3 | g.123291133T>A | CA354223360 | ADCY5 | c.1984A>T (p.Ile662Phe) c.2272A>T (p.Ile758Phe) n.1710A>T c.3382A>T (p.Ile1128Phe) c.3307A>T (p.Ile1103Phe) c.2257A>T (p.Ile753Phe) c.2281A>T (p.Ile761Phe) c.2332A>T (p.Ile778Phe) c.2059A>T (p.Ile687Phe) c.2383A>T (p.Ile795Phe) c.2293A>T (p.Ile765Phe) c.2284A>T (p.Ile762Phe) | |
| 3 | g.123291133T>C | CA354223362 | ADCY5 | c.1984A>G (p.Ile662Val) c.2272A>G (p.Ile758Val) n.1710A>G c.3382A>G (p.Ile1128Val) c.3307A>G (p.Ile1103Val) c.2257A>G (p.Ile753Val) c.2281A>G (p.Ile761Val) c.2332A>G (p.Ile778Val) c.2059A>G (p.Ile687Val) c.2383A>G (p.Ile795Val) c.2293A>G (p.Ile765Val) c.2284A>G (p.Ile762Val) | |
| 3 | g.123291133T>G | CA354223361 | ADCY5 | c.1984A>C (p.Ile662Leu) c.2272A>C (p.Ile758Leu) n.1710A>C c.3382A>C (p.Ile1128Leu) c.3307A>C (p.Ile1103Leu) c.2257A>C (p.Ile753Leu) c.2281A>C (p.Ile761Leu) c.2332A>C (p.Ile778Leu) c.2059A>C (p.Ile687Leu) c.2383A>C (p.Ile795Leu) c.2293A>C (p.Ile765Leu) c.2284A>C (p.Ile762Leu) | |
| 3 | g.123291134C>A | CA354223363 | ADCY5 | c.1983G>T (p.Glu661Asp) c.2271G>T (p.Glu757Asp) n.1709G>T c.3381G>T (p.Glu1127Asp) c.3306G>T (p.Glu1102Asp) c.2256G>T (p.Glu752Asp) c.2280G>T (p.Glu760Asp) c.2331G>T (p.Glu777Asp) c.2058G>T (p.Glu686Asp) c.2382G>T (p.Glu794Asp) c.2292G>T (p.Glu764Asp) c.2283G>T (p.Glu761Asp) | |
| 3 | g.123291134C>G | CA354223364 | ADCY5 | c.1983G>C (p.Glu661Asp) c.2271G>C (p.Glu757Asp) n.1709G>C c.3381G>C (p.Glu1127Asp) c.3306G>C (p.Glu1102Asp) c.2256G>C (p.Glu752Asp) c.2280G>C (p.Glu760Asp) c.2331G>C (p.Glu777Asp) c.2058G>C (p.Glu686Asp) c.2382G>C (p.Glu794Asp) c.2292G>C (p.Glu764Asp) c.2283G>C (p.Glu761Asp) | COSMIC |
| 3 | g.123291134C>T | CA435431301 | ADCY5 | c.1983G>A (p.Glu661=) c.2271G>A (p.Glu757=) n.1709G>A c.3381G>A (p.Glu1127=) c.3306G>A (p.Glu1102=) c.2256G>A (p.Glu752=) c.2280G>A (p.Glu760=) c.2331G>A (p.Glu777=) c.2058G>A (p.Glu686=) c.2382G>A (p.Glu794=) c.2292G>A (p.Glu764=) c.2283G>A (p.Glu761=) | gnomAD v4 |
| 3 | g.123291135T>A | CA354223365 | ADCY5 | c.1982A>T (p.Glu661Val) c.2270A>T (p.Glu757Val) n.1708A>T c.3380A>T (p.Glu1127Val) c.3305A>T (p.Glu1102Val) c.2255A>T (p.Glu752Val) c.2279A>T (p.Glu760Val) c.2330A>T (p.Glu777Val) c.2057A>T (p.Glu686Val) c.2381A>T (p.Glu794Val) c.2291A>T (p.Glu764Val) c.2282A>T (p.Glu761Val) | |
| 3 | g.123291135T>C | CA354223366 | ADCY5 | c.1982A>G (p.Glu661Gly) c.2270A>G (p.Glu757Gly) n.1708A>G c.3380A>G (p.Glu1127Gly) c.3305A>G (p.Glu1102Gly) c.2255A>G (p.Glu752Gly) c.2279A>G (p.Glu760Gly) c.2330A>G (p.Glu777Gly) c.2057A>G (p.Glu686Gly) c.2381A>G (p.Glu794Gly) c.2291A>G (p.Glu764Gly) c.2282A>G (p.Glu761Gly) | |
| 3 | g.123291135T>G | CA354223367 | ADCY5 | c.1982A>C (p.Glu661Ala) c.2270A>C (p.Glu757Ala) n.1708A>C c.3380A>C (p.Glu1127Ala) c.3305A>C (p.Glu1102Ala) c.2255A>C (p.Glu752Ala) c.2279A>C (p.Glu760Ala) c.2330A>C (p.Glu777Ala) c.2057A>C (p.Glu686Ala) c.2381A>C (p.Glu794Ala) c.2291A>C (p.Glu764Ala) c.2282A>C (p.Glu761Ala) | |
| 3 | g.123291136C>A | CA354223368 | ADCY5 | c.1981G>T (p.Glu661Ter) c.2269G>T (p.Glu757Ter) n.1707G>T c.3379G>T (p.Glu1127Ter) c.3304G>T (p.Glu1102Ter) c.2254G>T (p.Glu752Ter) c.2278G>T (p.Glu760Ter) c.2329G>T (p.Glu777Ter) c.2056G>T (p.Glu686Ter) c.2380G>T (p.Glu794Ter) c.2290G>T (p.Glu764Ter) c.2281G>T (p.Glu761Ter) | dbSNP |
| 3 | g.123291136C= | CA1398330367 | ADCY5 | c.1981G= (p.Glu661=) c.2269G= (p.Glu757=) n.1707G= c.3379G= (p.Glu1127=) c.3304G= (p.Glu1102=) c.2254G= (p.Glu752=) c.2278G= (p.Glu760=) c.2329G= (p.Glu777=) c.2056G= (p.Glu686=) c.2380G= (p.Glu794=) c.2290G= (p.Glu764=) c.2281G= (p.Glu761=) | |
| 3 | g.123291136C>G | CA354223369 | ADCY5 | c.1981G>C (p.Glu661Gln) c.2269G>C (p.Glu757Gln) n.1707G>C c.3379G>C (p.Glu1127Gln) c.3304G>C (p.Glu1102Gln) c.2254G>C (p.Glu752Gln) c.2278G>C (p.Glu760Gln) c.2329G>C (p.Glu777Gln) c.2056G>C (p.Glu686Gln) c.2380G>C (p.Glu794Gln) c.2290G>C (p.Glu764Gln) c.2281G>C (p.Glu761Gln) | |
| 3 | g.123291136C>T | CA354223370 | ADCY5 | c.1981G>A (p.Glu661Lys) c.2269G>A (p.Glu757Lys) n.1707G>A c.3379G>A (p.Glu1127Lys) c.3304G>A (p.Glu1102Lys) c.2254G>A (p.Glu752Lys) c.2278G>A (p.Glu760Lys) c.2329G>A (p.Glu777Lys) c.2056G>A (p.Glu686Lys) c.2380G>A (p.Glu794Lys) c.2290G>A (p.Glu764Lys) c.2281G>A (p.Glu761Lys) | |
| 3 | g.123291137A= | CA1398330368 | ADCY5 | c.1980T= (p.Asn660=) c.2268T= (p.Asn756=) n.1706T= c.3378T= (p.Asn1126=) c.3303T= (p.Asn1101=) c.2253T= (p.Asn751=) c.2277T= (p.Asn759=) c.2328T= (p.Asn776=) c.2055T= (p.Asn685=) c.2379T= (p.Asn793=) c.2289T= (p.Asn763=) c.2280T= (p.Asn760=) | |
| 3 | g.123291137A>C | CA354223371 | ADCY5 | c.1980T>G (p.Asn660Lys) c.2268T>G (p.Asn756Lys) n.1706T>G c.3378T>G (p.Asn1126Lys) c.3303T>G (p.Asn1101Lys) c.2253T>G (p.Asn751Lys) c.2277T>G (p.Asn759Lys) c.2328T>G (p.Asn776Lys) c.2055T>G (p.Asn685Lys) c.2379T>G (p.Asn793Lys) c.2289T>G (p.Asn763Lys) c.2280T>G (p.Asn760Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.123291137A>G | CA435431303 | ADCY5 | c.1980T>C (p.Asn660=) c.2268T>C (p.Asn756=) n.1706T>C c.3378T>C (p.Asn1126=) c.3303T>C (p.Asn1101=) c.2253T>C (p.Asn751=) c.2277T>C (p.Asn759=) c.2328T>C (p.Asn776=) c.2055T>C (p.Asn685=) c.2379T>C (p.Asn793=) c.2289T>C (p.Asn763=) c.2280T>C (p.Asn760=) | |
| 3 | g.123291137A>T | CA354223372 | ADCY5 | c.1980T>A (p.Asn660Lys) c.2268T>A (p.Asn756Lys) n.1706T>A c.3378T>A (p.Asn1126Lys) c.3303T>A (p.Asn1101Lys) c.2253T>A (p.Asn751Lys) c.2277T>A (p.Asn759Lys) c.2328T>A (p.Asn776Lys) c.2055T>A (p.Asn685Lys) c.2379T>A (p.Asn793Lys) c.2289T>A (p.Asn763Lys) c.2280T>A (p.Asn760Lys) | |
| 3 | g.123291138T>A | CA354223375 | ADCY5 | c.1979A>T (p.Asn660Ile) c.2267A>T (p.Asn756Ile) n.1705A>T c.3377A>T (p.Asn1126Ile) c.3302A>T (p.Asn1101Ile) c.2252A>T (p.Asn751Ile) c.2276A>T (p.Asn759Ile) c.2327A>T (p.Asn776Ile) c.2054A>T (p.Asn685Ile) c.2378A>T (p.Asn793Ile) c.2288A>T (p.Asn763Ile) c.2279A>T (p.Asn760Ile) | |
| 3 | g.123291138T>C | CA354223374 | ADCY5 | c.1979A>G (p.Asn660Ser) c.2267A>G (p.Asn756Ser) n.1705A>G c.3377A>G (p.Asn1126Ser) c.3302A>G (p.Asn1101Ser) c.2252A>G (p.Asn751Ser) c.2276A>G (p.Asn759Ser) c.2327A>G (p.Asn776Ser) c.2054A>G (p.Asn685Ser) c.2378A>G (p.Asn793Ser) c.2288A>G (p.Asn763Ser) c.2279A>G (p.Asn760Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.123291138T>G | CA354223373 | ADCY5 | c.1979A>C (p.Asn660Thr) c.2267A>C (p.Asn756Thr) n.1705A>C c.3377A>C (p.Asn1126Thr) c.3302A>C (p.Asn1101Thr) c.2252A>C (p.Asn751Thr) c.2276A>C (p.Asn759Thr) c.2327A>C (p.Asn776Thr) c.2054A>C (p.Asn685Thr) c.2378A>C (p.Asn793Thr) c.2288A>C (p.Asn763Thr) c.2279A>C (p.Asn760Thr) | |
| 3 | g.123291138T= | CA1398330369 | ADCY5 | c.1979A= (p.Asn660=) c.2267A= (p.Asn756=) n.1705A= c.3377A= (p.Asn1126=) c.3302A= (p.Asn1101=) c.2252A= (p.Asn751=) c.2276A= (p.Asn759=) c.2327A= (p.Asn776=) c.2054A= (p.Asn685=) c.2378A= (p.Asn793=) c.2288A= (p.Asn763=) c.2279A= (p.Asn760=) | |
| 3 | g.123291139T>A | CA354223376 | ADCY5 | c.1978A>T (p.Asn660Tyr) c.2266A>T (p.Asn756Tyr) n.1704A>T c.3376A>T (p.Asn1126Tyr) c.3301A>T (p.Asn1101Tyr) c.2251A>T (p.Asn751Tyr) c.2275A>T (p.Asn759Tyr) c.2326A>T (p.Asn776Tyr) c.2053A>T (p.Asn685Tyr) c.2377A>T (p.Asn793Tyr) c.2287A>T (p.Asn763Tyr) c.2278A>T (p.Asn760Tyr) | |
| 3 | g.123291139T>C | CA354223377 | ADCY5 | c.1978A>G (p.Asn660Asp) c.2266A>G (p.Asn756Asp) n.1704A>G c.3376A>G (p.Asn1126Asp) c.3301A>G (p.Asn1101Asp) c.2251A>G (p.Asn751Asp) c.2275A>G (p.Asn759Asp) c.2326A>G (p.Asn776Asp) c.2053A>G (p.Asn685Asp) c.2377A>G (p.Asn793Asp) c.2287A>G (p.Asn763Asp) c.2278A>G (p.Asn760Asp) | |
| 3 | g.123291139T>G | CA354223378 | ADCY5 | c.1978A>C (p.Asn660His) c.2266A>C (p.Asn756His) n.1704A>C c.3376A>C (p.Asn1126His) c.3301A>C (p.Asn1101His) c.2251A>C (p.Asn751His) c.2275A>C (p.Asn759His) c.2326A>C (p.Asn776His) c.2053A>C (p.Asn685His) c.2377A>C (p.Asn793His) c.2287A>C (p.Asn763His) c.2278A>C (p.Asn760His) | |
| 3 | g.123291140G>A | CA435431307 | ADCY5 | c.1977C>T (p.Leu659=) c.2265C>T (p.Leu755=) n.1703C>T c.3375C>T (p.Leu1125=) c.3300C>T (p.Leu1100=) c.2250C>T (p.Leu750=) c.2274C>T (p.Leu758=) c.2325C>T (p.Leu775=) c.2052C>T (p.Leu684=) c.2376C>T (p.Leu792=) c.2286C>T (p.Leu762=) c.2277C>T (p.Leu759=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.123291140G>C | CA435431308 | ADCY5 | c.1977C>G (p.Leu659=) c.2265C>G (p.Leu755=) n.1703C>G c.3375C>G (p.Leu1125=) c.3300C>G (p.Leu1100=) c.2250C>G (p.Leu750=) c.2274C>G (p.Leu758=) c.2325C>G (p.Leu775=) c.2052C>G (p.Leu684=) c.2376C>G (p.Leu792=) c.2286C>G (p.Leu762=) c.2277C>G (p.Leu759=) | |
| 3 | g.123291140G= | CA1398330370 | ADCY5 | c.1977C= (p.Leu659=) c.2265C= (p.Leu755=) n.1703C= c.3375C= (p.Leu1125=) c.3300C= (p.Leu1100=) c.2250C= (p.Leu750=) c.2274C= (p.Leu758=) c.2325C= (p.Leu775=) c.2052C= (p.Leu684=) c.2376C= (p.Leu792=) c.2286C= (p.Leu762=) c.2277C= (p.Leu759=) | |
| 3 | g.123291140G>T | CA435431309 | ADCY5 | c.1977C>A (p.Leu659=) c.2265C>A (p.Leu755=) n.1703C>A c.3375C>A (p.Leu1125=) c.3300C>A (p.Leu1100=) c.2250C>A (p.Leu750=) c.2274C>A (p.Leu758=) c.2325C>A (p.Leu775=) c.2052C>A (p.Leu684=) c.2376C>A (p.Leu792=) c.2286C>A (p.Leu762=) c.2277C>A (p.Leu759=) | |
| 3 | g.123291141A>C | CA354223379 | ADCY5 | c.1976T>G (p.Leu659Arg) c.2264T>G (p.Leu755Arg) n.1702T>G c.3374T>G (p.Leu1125Arg) c.3299T>G (p.Leu1100Arg) c.2249T>G (p.Leu750Arg) c.2273T>G (p.Leu758Arg) c.2324T>G (p.Leu775Arg) c.2051T>G (p.Leu684Arg) c.2375T>G (p.Leu792Arg) c.2285T>G (p.Leu762Arg) c.2276T>G (p.Leu759Arg) | |
| 3 | g.123291141A>G | CA354223380 | ADCY5 | c.1976T>C (p.Leu659Pro) c.2264T>C (p.Leu755Pro) n.1702T>C c.3374T>C (p.Leu1125Pro) c.3299T>C (p.Leu1100Pro) c.2249T>C (p.Leu750Pro) c.2273T>C (p.Leu758Pro) c.2324T>C (p.Leu775Pro) c.2051T>C (p.Leu684Pro) c.2375T>C (p.Leu792Pro) c.2285T>C (p.Leu762Pro) c.2276T>C (p.Leu759Pro) | |
| 3 | g.123291141A>T | CA354223381 | ADCY5 | c.1976T>A (p.Leu659His) c.2264T>A (p.Leu755His) n.1702T>A c.3374T>A (p.Leu1125His) c.3299T>A (p.Leu1100His) c.2249T>A (p.Leu750His) c.2273T>A (p.Leu758His) c.2324T>A (p.Leu775His) c.2051T>A (p.Leu684His) c.2375T>A (p.Leu792His) c.2285T>A (p.Leu762His) c.2276T>A (p.Leu759His) | |
| 3 | g.123291142G>A | CA354223382 | ADCY5 | c.1975C>T (p.Leu659Phe) c.2263C>T (p.Leu755Phe) n.1701C>T c.3373C>T (p.Leu1125Phe) c.3298C>T (p.Leu1100Phe) c.2248C>T (p.Leu750Phe) c.2272C>T (p.Leu758Phe) c.2323C>T (p.Leu775Phe) c.2050C>T (p.Leu684Phe) c.2374C>T (p.Leu792Phe) c.2284C>T (p.Leu762Phe) c.2275C>T (p.Leu759Phe) | |
| 3 | g.123291142G>C | CA354223383 | ADCY5 | c.1975C>G (p.Leu659Val) c.2263C>G (p.Leu755Val) n.1701C>G c.3373C>G (p.Leu1125Val) c.3298C>G (p.Leu1100Val) c.2248C>G (p.Leu750Val) c.2272C>G (p.Leu758Val) c.2323C>G (p.Leu775Val) c.2050C>G (p.Leu684Val) c.2374C>G (p.Leu792Val) c.2284C>G (p.Leu762Val) c.2275C>G (p.Leu759Val) | |
| 3 | g.123291142G>T | CA354223384 | ADCY5 | c.1975C>A (p.Leu659Ile) c.2263C>A (p.Leu755Ile) n.1701C>A c.3373C>A (p.Leu1125Ile) c.3298C>A (p.Leu1100Ile) c.2248C>A (p.Leu750Ile) c.2272C>A (p.Leu758Ile) c.2323C>A (p.Leu775Ile) c.2050C>A (p.Leu684Ile) c.2374C>A (p.Leu792Ile) c.2284C>A (p.Leu762Ile) c.2275C>A (p.Leu759Ile) | |
| 3 | g.123291143T>A | CA435431311 | ADCY5 | c.1974A>T (p.Leu658=) c.2262A>T (p.Leu754=) n.1700A>T c.3372A>T (p.Leu1124=) c.3297A>T (p.Leu1099=) c.2247A>T (p.Leu749=) c.2271A>T (p.Leu757=) c.2322A>T (p.Leu774=) c.2049A>T (p.Leu683=) c.2373A>T (p.Leu791=) c.2283A>T (p.Leu761=) c.2274A>T (p.Leu758=) | |
| 3 | g.123291143T>C | CA435431313 | ADCY5 | c.1974A>G (p.Leu658=) c.2262A>G (p.Leu754=) n.1700A>G c.3372A>G (p.Leu1124=) c.3297A>G (p.Leu1099=) c.2247A>G (p.Leu749=) c.2271A>G (p.Leu757=) c.2322A>G (p.Leu774=) c.2049A>G (p.Leu683=) c.2373A>G (p.Leu791=) c.2283A>G (p.Leu761=) c.2274A>G (p.Leu758=) | |
| 3 | g.123291143T>G | CA435431314 | ADCY5 | c.1974A>C (p.Leu658=) c.2262A>C (p.Leu754=) n.1700A>C c.3372A>C (p.Leu1124=) c.3297A>C (p.Leu1099=) c.2247A>C (p.Leu749=) c.2271A>C (p.Leu757=) c.2322A>C (p.Leu774=) c.2049A>C (p.Leu683=) c.2373A>C (p.Leu791=) c.2283A>C (p.Leu761=) c.2274A>C (p.Leu758=) | |
| 3 | g.123291144A>C | CA354223385 | ADCY5 | c.1973T>G (p.Leu658Arg) c.2261T>G (p.Leu754Arg) n.1699T>G c.3371T>G (p.Leu1124Arg) c.3296T>G (p.Leu1099Arg) c.2246T>G (p.Leu749Arg) c.2270T>G (p.Leu757Arg) c.2321T>G (p.Leu774Arg) c.2048T>G (p.Leu683Arg) c.2372T>G (p.Leu791Arg) c.2282T>G (p.Leu761Arg) c.2273T>G (p.Leu758Arg) | |
| 3 | g.123291144A>G | CA354223386 | ADCY5 | c.1973T>C (p.Leu658Pro) c.2261T>C (p.Leu754Pro) n.1699T>C c.3371T>C (p.Leu1124Pro) c.3296T>C (p.Leu1099Pro) c.2246T>C (p.Leu749Pro) c.2270T>C (p.Leu757Pro) c.2321T>C (p.Leu774Pro) c.2048T>C (p.Leu683Pro) c.2372T>C (p.Leu791Pro) c.2282T>C (p.Leu761Pro) c.2273T>C (p.Leu758Pro) | |
| 3 | g.123291144A>T | CA354223387 | ADCY5 | c.1973T>A (p.Leu658Gln) c.2261T>A (p.Leu754Gln) n.1699T>A c.3371T>A (p.Leu1124Gln) c.3296T>A (p.Leu1099Gln) c.2246T>A (p.Leu749Gln) c.2270T>A (p.Leu757Gln) c.2321T>A (p.Leu774Gln) c.2048T>A (p.Leu683Gln) c.2372T>A (p.Leu791Gln) c.2282T>A (p.Leu761Gln) c.2273T>A (p.Leu758Gln) | |
| 3 | g.123291145G>A | CA435431316 | ADCY5 | c.1972C>T (p.Leu658=) c.2260C>T (p.Leu754=) n.1698C>T c.3370C>T (p.Leu1124=) c.3295C>T (p.Leu1099=) c.2245C>T (p.Leu749=) c.2269C>T (p.Leu757=) c.2320C>T (p.Leu774=) c.2047C>T (p.Leu683=) c.2371C>T (p.Leu791=) c.2281C>T (p.Leu761=) c.2272C>T (p.Leu758=) | |
| 3 | g.123291145G>C | CA354223388 | ADCY5 | c.1972C>G (p.Leu658Val) c.2260C>G (p.Leu754Val) n.1698C>G c.3370C>G (p.Leu1124Val) c.3295C>G (p.Leu1099Val) c.2245C>G (p.Leu749Val) c.2269C>G (p.Leu757Val) c.2320C>G (p.Leu774Val) c.2047C>G (p.Leu683Val) c.2371C>G (p.Leu791Val) c.2281C>G (p.Leu761Val) c.2272C>G (p.Leu758Val) | |
| 3 | g.123291145G>T | CA354223389 | ADCY5 | c.1972C>A (p.Leu658Ile) c.2260C>A (p.Leu754Ile) n.1698C>A c.3370C>A (p.Leu1124Ile) c.3295C>A (p.Leu1099Ile) c.2245C>A (p.Leu749Ile) c.2269C>A (p.Leu757Ile) c.2320C>A (p.Leu774Ile) c.2047C>A (p.Leu683Ile) c.2371C>A (p.Leu791Ile) c.2281C>A (p.Leu761Ile) c.2272C>A (p.Leu758Ile) | |
| 3 | g.123291146C>A | CA435431317 | ADCY5 | c.1971G>T (p.Arg657=) c.2259G>T (p.Arg753=) n.1697G>T c.3369G>T (p.Arg1123=) c.3294G>T (p.Arg1098=) c.2244G>T (p.Arg748=) c.2268G>T (p.Arg756=) c.2319G>T (p.Arg773=) c.2046G>T (p.Arg682=) c.2370G>T (p.Arg790=) c.2280G>T (p.Arg760=) c.2271G>T (p.Arg757=) | |
| 3 | g.123291146C>G | CA435431318 | ADCY5 | c.1971G>C (p.Arg657=) c.2259G>C (p.Arg753=) n.1697G>C c.3369G>C (p.Arg1123=) c.3294G>C (p.Arg1098=) c.2244G>C (p.Arg748=) c.2268G>C (p.Arg756=) c.2319G>C (p.Arg773=) c.2046G>C (p.Arg682=) c.2370G>C (p.Arg790=) c.2280G>C (p.Arg760=) c.2271G>C (p.Arg757=) | |
| 3 | g.123291146C>T | CA435431319 | ADCY5 | c.1971G>A (p.Arg657=) c.2259G>A (p.Arg753=) n.1697G>A c.3369G>A (p.Arg1123=) c.3294G>A (p.Arg1098=) c.2244G>A (p.Arg748=) c.2268G>A (p.Arg756=) c.2319G>A (p.Arg773=) c.2046G>A (p.Arg682=) c.2370G>A (p.Arg790=) c.2280G>A (p.Arg760=) c.2271G>A (p.Arg757=) | |
| 3 | g.123291147C>A | CA354223390 | ADCY5 | c.1970G>T (p.Arg657Leu) c.2258G>T (p.Arg753Leu) n.1696G>T c.3368G>T (p.Arg1123Leu) c.3293G>T (p.Arg1098Leu) c.2243G>T (p.Arg748Leu) c.2267G>T (p.Arg756Leu) c.2318G>T (p.Arg773Leu) c.2045G>T (p.Arg682Leu) c.2369G>T (p.Arg790Leu) c.2279G>T (p.Arg760Leu) c.2270G>T (p.Arg757Leu) | |
| 3 | g.123291147C>G | CA354223391 | ADCY5 | c.1970G>C (p.Arg657Pro) c.2258G>C (p.Arg753Pro) n.1696G>C c.3368G>C (p.Arg1123Pro) c.3293G>C (p.Arg1098Pro) c.2243G>C (p.Arg748Pro) c.2267G>C (p.Arg756Pro) c.2318G>C (p.Arg773Pro) c.2045G>C (p.Arg682Pro) c.2369G>C (p.Arg790Pro) c.2279G>C (p.Arg760Pro) c.2270G>C (p.Arg757Pro) | |
| 3 | g.123291147C>T | CA354223392 | ADCY5 | c.1970G>A (p.Arg657Gln) c.2258G>A (p.Arg753Gln) n.1696G>A c.3368G>A (p.Arg1123Gln) c.3293G>A (p.Arg1098Gln) c.2243G>A (p.Arg748Gln) c.2267G>A (p.Arg756Gln) c.2318G>A (p.Arg773Gln) c.2045G>A (p.Arg682Gln) c.2369G>A (p.Arg790Gln) c.2279G>A (p.Arg760Gln) c.2270G>A (p.Arg757Gln) | |
| 3 | g.123291148G>A | CA354223393 | ADCY5 | c.1969C>T (p.Arg657Trp) c.2257C>T (p.Arg753Trp) n.1695C>T c.3367C>T (p.Arg1123Trp) c.3292C>T (p.Arg1098Trp) c.2242C>T (p.Arg748Trp) c.2266C>T (p.Arg756Trp) c.2317C>T (p.Arg773Trp) c.2044C>T (p.Arg682Trp) c.2368C>T (p.Arg790Trp) c.2278C>T (p.Arg760Trp) c.2269C>T (p.Arg757Trp) | dbSNP gnomAD v2 COSMIC |
| 3 | g.123291148G>C | CA354223394 | ADCY5 | c.1969C>G (p.Arg657Gly) c.2257C>G (p.Arg753Gly) n.1695C>G c.3367C>G (p.Arg1123Gly) c.3292C>G (p.Arg1098Gly) c.2242C>G (p.Arg748Gly) c.2266C>G (p.Arg756Gly) c.2317C>G (p.Arg773Gly) c.2044C>G (p.Arg682Gly) c.2368C>G (p.Arg790Gly) c.2278C>G (p.Arg760Gly) c.2269C>G (p.Arg757Gly) | |
| 3 | g.123291148G= | CA1398330371 | ADCY5 | c.1969C= (p.Arg657=) c.2257C= (p.Arg753=) n.1695C= c.3367C= (p.Arg1123=) c.3292C= (p.Arg1098=) c.2242C= (p.Arg748=) c.2266C= (p.Arg756=) c.2317C= (p.Arg773=) c.2044C= (p.Arg682=) c.2368C= (p.Arg790=) c.2278C= (p.Arg760=) c.2269C= (p.Arg757=) | |
| 3 | g.123291148G>T | CA435431320 | ADCY5 | c.1969C>A (p.Arg657=) c.2257C>A (p.Arg753=) n.1695C>A c.3367C>A (p.Arg1123=) c.3292C>A (p.Arg1098=) c.2242C>A (p.Arg748=) c.2266C>A (p.Arg756=) c.2317C>A (p.Arg773=) c.2044C>A (p.Arg682=) c.2368C>A (p.Arg790=) c.2278C>A (p.Arg760=) c.2269C>A (p.Arg757=) | |
| 3 | g.123291149C>A | CA435431322 | ADCY5 | c.1968G>T (p.Leu656=) c.2256G>T (p.Leu752=) n.1694G>T c.3366G>T (p.Leu1122=) c.3291G>T (p.Leu1097=) c.2241G>T (p.Leu747=) c.2265G>T (p.Leu755=) c.2316G>T (p.Leu772=) c.2043G>T (p.Leu681=) c.2367G>T (p.Leu789=) c.2277G>T (p.Leu759=) c.2268G>T (p.Leu756=) | |
| 3 | g.123291149C>G | CA435431323 | ADCY5 | c.1968G>C (p.Leu656=) c.2256G>C (p.Leu752=) n.1694G>C c.3366G>C (p.Leu1122=) c.3291G>C (p.Leu1097=) c.2241G>C (p.Leu747=) c.2265G>C (p.Leu755=) c.2316G>C (p.Leu772=) c.2043G>C (p.Leu681=) c.2367G>C (p.Leu789=) c.2277G>C (p.Leu759=) c.2268G>C (p.Leu756=) | |
| 3 | g.123291149C>T | CA435431324 | ADCY5 | c.1968G>A (p.Leu656=) c.2256G>A (p.Leu752=) n.1694G>A c.3366G>A (p.Leu1122=) c.3291G>A (p.Leu1097=) c.2241G>A (p.Leu747=) c.2265G>A (p.Leu755=) c.2316G>A (p.Leu772=) c.2043G>A (p.Leu681=) c.2367G>A (p.Leu789=) c.2277G>A (p.Leu759=) c.2268G>A (p.Leu756=) | |
| 3 | g.123291150A>C | CA354223395 | ADCY5 | c.1967T>G (p.Leu656Arg) c.2255T>G (p.Leu752Arg) n.1693T>G c.3365T>G (p.Leu1122Arg) c.3290T>G (p.Leu1097Arg) c.2240T>G (p.Leu747Arg) c.2264T>G (p.Leu755Arg) c.2315T>G (p.Leu772Arg) c.2042T>G (p.Leu681Arg) c.2366T>G (p.Leu789Arg) c.2276T>G (p.Leu759Arg) c.2267T>G (p.Leu756Arg) | |
| 3 | g.123291150A>G | CA354223396 | ADCY5 | c.1967T>C (p.Leu656Pro) c.2255T>C (p.Leu752Pro) n.1693T>C c.3365T>C (p.Leu1122Pro) c.3290T>C (p.Leu1097Pro) c.2240T>C (p.Leu747Pro) c.2264T>C (p.Leu755Pro) c.2315T>C (p.Leu772Pro) c.2042T>C (p.Leu681Pro) c.2366T>C (p.Leu789Pro) c.2276T>C (p.Leu759Pro) c.2267T>C (p.Leu756Pro) | |
| 3 | g.123291150A>T | CA354223397 | ADCY5 | c.1967T>A (p.Leu656Gln) c.2255T>A (p.Leu752Gln) n.1693T>A c.3365T>A (p.Leu1122Gln) c.3290T>A (p.Leu1097Gln) c.2240T>A (p.Leu747Gln) c.2264T>A (p.Leu755Gln) c.2315T>A (p.Leu772Gln) c.2042T>A (p.Leu681Gln) c.2366T>A (p.Leu789Gln) c.2276T>A (p.Leu759Gln) c.2267T>A (p.Leu756Gln) | |
| 3 | g.123291151G>A | CA435431325 | ADCY5 | c.1966C>T (p.Leu656=) c.2254C>T (p.Leu752=) n.1692C>T c.3364C>T (p.Leu1122=) c.3289C>T (p.Leu1097=) c.2239C>T (p.Leu747=) c.2263C>T (p.Leu755=) c.2314C>T (p.Leu772=) c.2041C>T (p.Leu681=) c.2365C>T (p.Leu789=) c.2275C>T (p.Leu759=) c.2266C>T (p.Leu756=) | |
| 3 | g.123291151G>C | CA354223398 | ADCY5 | c.1966C>G (p.Leu656Val) c.2254C>G (p.Leu752Val) n.1692C>G c.3364C>G (p.Leu1122Val) c.3289C>G (p.Leu1097Val) c.2239C>G (p.Leu747Val) c.2263C>G (p.Leu755Val) c.2314C>G (p.Leu772Val) c.2041C>G (p.Leu681Val) c.2365C>G (p.Leu789Val) c.2275C>G (p.Leu759Val) c.2266C>G (p.Leu756Val) | |
| 3 | g.123291151G>T | CA354223399 | ADCY5 | c.1966C>A (p.Leu656Met) c.2254C>A (p.Leu752Met) n.1692C>A c.3364C>A (p.Leu1122Met) c.3289C>A (p.Leu1097Met) c.2239C>A (p.Leu747Met) c.2263C>A (p.Leu755Met) c.2314C>A (p.Leu772Met) c.2041C>A (p.Leu681Met) c.2365C>A (p.Leu789Met) c.2275C>A (p.Leu759Met) c.2266C>A (p.Leu756Met) | |
| 3 | g.123291152G>A | CA435431326 | ADCY5 | c.1965C>T (p.Cys655=) c.2253C>T (p.Cys751=) n.1691C>T c.3363C>T (p.Cys1121=) c.3288C>T (p.Cys1096=) c.2238C>T (p.Cys746=) c.2262C>T (p.Cys754=) c.2313C>T (p.Cys771=) c.2040C>T (p.Cys680=) c.2364C>T (p.Cys788=) c.2274C>T (p.Cys758=) c.2265C>T (p.Cys755=) | dbSNP gnomAD v4 |
| 3 | g.123291152G>C | CA354223400 | ADCY5 | c.1965C>G (p.Cys655Trp) c.2253C>G (p.Cys751Trp) n.1691C>G c.3363C>G (p.Cys1121Trp) c.3288C>G (p.Cys1096Trp) c.2238C>G (p.Cys746Trp) c.2262C>G (p.Cys754Trp) c.2313C>G (p.Cys771Trp) c.2040C>G (p.Cys680Trp) c.2364C>G (p.Cys788Trp) c.2274C>G (p.Cys758Trp) c.2265C>G (p.Cys755Trp) | |
| 3 | g.123291152G= | CA1398330372 | ADCY5 | c.1965C= (p.Cys655=) c.2253C= (p.Cys751=) n.1691C= c.3363C= (p.Cys1121=) c.3288C= (p.Cys1096=) c.2238C= (p.Cys746=) c.2262C= (p.Cys754=) c.2313C= (p.Cys771=) c.2040C= (p.Cys680=) c.2364C= (p.Cys788=) c.2274C= (p.Cys758=) c.2265C= (p.Cys755=) | |
| 3 | g.123291152G>T | CA354223401 | ADCY5 | c.1965C>A (p.Cys655Ter) c.2253C>A (p.Cys751Ter) n.1691C>A c.3363C>A (p.Cys1121Ter) c.3288C>A (p.Cys1096Ter) c.2238C>A (p.Cys746Ter) c.2262C>A (p.Cys754Ter) c.2313C>A (p.Cys771Ter) c.2040C>A (p.Cys680Ter) c.2364C>A (p.Cys788Ter) c.2274C>A (p.Cys758Ter) c.2265C>A (p.Cys755Ter) | dbSNP |
| 3 | g.123291153C>A | CA354223404 | ADCY5 | c.1964G>T (p.Cys655Phe) c.2252G>T (p.Cys751Phe) n.1690G>T c.3362G>T (p.Cys1121Phe) c.3287G>T (p.Cys1096Phe) c.2237G>T (p.Cys746Phe) c.2261G>T (p.Cys754Phe) c.2312G>T (p.Cys771Phe) c.2039G>T (p.Cys680Phe) c.2363G>T (p.Cys788Phe) c.2273G>T (p.Cys758Phe) c.2264G>T (p.Cys755Phe) | |
| 3 | g.123291153C>G | CA354223402 | ADCY5 | c.1964G>C (p.Cys655Ser) c.2252G>C (p.Cys751Ser) n.1690G>C c.3362G>C (p.Cys1121Ser) c.3287G>C (p.Cys1096Ser) c.2237G>C (p.Cys746Ser) c.2261G>C (p.Cys754Ser) c.2312G>C (p.Cys771Ser) c.2039G>C (p.Cys680Ser) c.2363G>C (p.Cys788Ser) c.2273G>C (p.Cys758Ser) c.2264G>C (p.Cys755Ser) | |
| 3 | g.123291153C>T | CA354223403 | ADCY5 | c.1964G>A (p.Cys655Tyr) c.2252G>A (p.Cys751Tyr) n.1690G>A c.3362G>A (p.Cys1121Tyr) c.3287G>A (p.Cys1096Tyr) c.2237G>A (p.Cys746Tyr) c.2261G>A (p.Cys754Tyr) c.2312G>A (p.Cys771Tyr) c.2039G>A (p.Cys680Tyr) c.2363G>A (p.Cys788Tyr) c.2273G>A (p.Cys758Tyr) c.2264G>A (p.Cys755Tyr) | gnomAD v4 |
| 3 | g.123291154A>C | CA354223405 | ADCY5 | c.1963T>G (p.Cys655Gly) c.2251T>G (p.Cys751Gly) n.1689T>G c.3361T>G (p.Cys1121Gly) c.3286T>G (p.Cys1096Gly) c.2236T>G (p.Cys746Gly) c.2260T>G (p.Cys754Gly) c.2311T>G (p.Cys771Gly) c.2038T>G (p.Cys680Gly) c.2362T>G (p.Cys788Gly) c.2272T>G (p.Cys758Gly) c.2263T>G (p.Cys755Gly) | |
| 3 | g.123291154A>G | CA354223406 | ADCY5 | c.1963T>C (p.Cys655Arg) c.2251T>C (p.Cys751Arg) n.1689T>C c.3361T>C (p.Cys1121Arg) c.3286T>C (p.Cys1096Arg) c.2236T>C (p.Cys746Arg) c.2260T>C (p.Cys754Arg) c.2311T>C (p.Cys771Arg) c.2038T>C (p.Cys680Arg) c.2362T>C (p.Cys788Arg) c.2272T>C (p.Cys758Arg) c.2263T>C (p.Cys755Arg) | |
| 3 | g.123291154A>T | CA354223407 | ADCY5 | c.1963T>A (p.Cys655Ser) c.2251T>A (p.Cys751Ser) n.1689T>A c.3361T>A (p.Cys1121Ser) c.3286T>A (p.Cys1096Ser) c.2236T>A (p.Cys746Ser) c.2260T>A (p.Cys754Ser) c.2311T>A (p.Cys771Ser) c.2038T>A (p.Cys680Ser) c.2362T>A (p.Cys788Ser) c.2272T>A (p.Cys758Ser) c.2263T>A (p.Cys755Ser) | |
| 3 | g.123291155C>A | CA354223408 | ADCY5 | c.1962G>T (p.Glu654Asp) c.2250G>T (p.Glu750Asp) n.1688G>T c.3360G>T (p.Glu1120Asp) c.3285G>T (p.Glu1095Asp) c.2235G>T (p.Glu745Asp) c.2259G>T (p.Glu753Asp) c.2310G>T (p.Glu770Asp) c.2037G>T (p.Glu679Asp) c.2361G>T (p.Glu787Asp) c.2271G>T (p.Glu757Asp) c.2262G>T (p.Glu754Asp) | |
| 3 | g.123291155C>G | CA354223409 | ADCY5 | c.1962G>C (p.Glu654Asp) c.2250G>C (p.Glu750Asp) n.1688G>C c.3360G>C (p.Glu1120Asp) c.3285G>C (p.Glu1095Asp) c.2235G>C (p.Glu745Asp) c.2259G>C (p.Glu753Asp) c.2310G>C (p.Glu770Asp) c.2037G>C (p.Glu679Asp) c.2361G>C (p.Glu787Asp) c.2271G>C (p.Glu757Asp) c.2262G>C (p.Glu754Asp) | |
| 3 | g.123291155C>T | CA435431327 | ADCY5 | c.1962G>A (p.Glu654=) c.2250G>A (p.Glu750=) n.1688G>A c.3360G>A (p.Glu1120=) c.3285G>A (p.Glu1095=) c.2235G>A (p.Glu745=) c.2259G>A (p.Glu753=) c.2310G>A (p.Glu770=) c.2037G>A (p.Glu679=) c.2361G>A (p.Glu787=) c.2271G>A (p.Glu757=) c.2262G>A (p.Glu754=) | |
| 3 | g.123291156T>A | CA354223410 | ADCY5 | c.1961A>T (p.Glu654Val) c.2249A>T (p.Glu750Val) n.1687A>T c.3359A>T (p.Glu1120Val) c.3284A>T (p.Glu1095Val) c.2234A>T (p.Glu745Val) c.2258A>T (p.Glu753Val) c.2309A>T (p.Glu770Val) c.2036A>T (p.Glu679Val) c.2360A>T (p.Glu787Val) c.2270A>T (p.Glu757Val) c.2261A>T (p.Glu754Val) | |
| 3 | g.123291156T>C | CA354223411 | ADCY5 | c.1961A>G (p.Glu654Gly) c.2249A>G (p.Glu750Gly) n.1687A>G c.3359A>G (p.Glu1120Gly) c.3284A>G (p.Glu1095Gly) c.2234A>G (p.Glu745Gly) c.2258A>G (p.Glu753Gly) c.2309A>G (p.Glu770Gly) c.2036A>G (p.Glu679Gly) c.2360A>G (p.Glu787Gly) c.2270A>G (p.Glu757Gly) c.2261A>G (p.Glu754Gly) | |
| 3 | g.123291156T>G | CA354223412 | ADCY5 | c.1961A>C (p.Glu654Ala) c.2249A>C (p.Glu750Ala) n.1687A>C c.3359A>C (p.Glu1120Ala) c.3284A>C (p.Glu1095Ala) c.2234A>C (p.Glu745Ala) c.2258A>C (p.Glu753Ala) c.2309A>C (p.Glu770Ala) c.2036A>C (p.Glu679Ala) c.2360A>C (p.Glu787Ala) c.2270A>C (p.Glu757Ala) c.2261A>C (p.Glu754Ala) | |
| 3 | g.123291157C>A | CA354223413 | ADCY5 | c.1960G>T (p.Glu654Ter) c.2248G>T (p.Glu750Ter) n.1686G>T c.3358G>T (p.Glu1120Ter) c.3283G>T (p.Glu1095Ter) c.2233G>T (p.Glu745Ter) c.2257G>T (p.Glu753Ter) c.2308G>T (p.Glu770Ter) c.2035G>T (p.Glu679Ter) c.2359G>T (p.Glu787Ter) c.2269G>T (p.Glu757Ter) c.2260G>T (p.Glu754Ter) | dbSNP |
| 3 | g.123291157C= | CA1398330373 | ADCY5 | c.1960G= (p.Glu654=) c.2248G= (p.Glu750=) n.1686G= c.3358G= (p.Glu1120=) c.3283G= (p.Glu1095=) c.2233G= (p.Glu745=) c.2257G= (p.Glu753=) c.2308G= (p.Glu770=) c.2035G= (p.Glu679=) c.2359G= (p.Glu787=) c.2269G= (p.Glu757=) c.2260G= (p.Glu754=) | |
| 3 | g.123291157C>G | CA354223414 | ADCY5 | c.1960G>C (p.Glu654Gln) c.2248G>C (p.Glu750Gln) n.1686G>C c.3358G>C (p.Glu1120Gln) c.3283G>C (p.Glu1095Gln) c.2233G>C (p.Glu745Gln) c.2257G>C (p.Glu753Gln) c.2308G>C (p.Glu770Gln) c.2035G>C (p.Glu679Gln) c.2359G>C (p.Glu787Gln) c.2269G>C (p.Glu757Gln) c.2260G>C (p.Glu754Gln) | |
| 3 | g.123291157C>T | CA2576811 | ADCY5 | c.1960G>A (p.Glu654Lys) c.2248G>A (p.Glu750Lys) n.1686G>A c.3358G>A (p.Glu1120Lys) c.3283G>A (p.Glu1095Lys) c.2233G>A (p.Glu745Lys) c.2257G>A (p.Glu753Lys) c.2308G>A (p.Glu770Lys) c.2035G>A (p.Glu679Lys) c.2359G>A (p.Glu787Lys) c.2269G>A (p.Glu757Lys) c.2260G>A (p.Glu754Lys) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 3 | g.123291158G>A | CA2576812 | ADCY5 | c.1959C>T (p.Val653=) c.2247C>T (p.Val749=) n.1685C>T c.3357C>T (p.Val1119=) c.3282C>T (p.Val1094=) c.2232C>T (p.Val744=) c.2256C>T (p.Val752=) c.2307C>T (p.Val769=) c.2034C>T (p.Val678=) c.2358C>T (p.Val786=) c.2268C>T (p.Val756=) c.2259C>T (p.Val753=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.123291158G>C | CA435431330 | ADCY5 | c.1959C>G (p.Val653=) c.2247C>G (p.Val749=) n.1685C>G c.3357C>G (p.Val1119=) c.3282C>G (p.Val1094=) c.2232C>G (p.Val744=) c.2256C>G (p.Val752=) c.2307C>G (p.Val769=) c.2034C>G (p.Val678=) c.2358C>G (p.Val786=) c.2268C>G (p.Val756=) c.2259C>G (p.Val753=) | |
| 3 | g.123291158G= | CA1398330374 | ADCY5 | c.1959C= (p.Val653=) c.2247C= (p.Val749=) n.1685C= c.3357C= (p.Val1119=) c.3282C= (p.Val1094=) c.2232C= (p.Val744=) c.2256C= (p.Val752=) c.2307C= (p.Val769=) c.2034C= (p.Val678=) c.2358C= (p.Val786=) c.2268C= (p.Val756=) c.2259C= (p.Val753=) | |
| 3 | g.123291158G>T | CA435431329 | ADCY5 | c.1959C>A (p.Val653=) c.2247C>A (p.Val749=) n.1685C>A c.3357C>A (p.Val1119=) c.3282C>A (p.Val1094=) c.2232C>A (p.Val744=) c.2256C>A (p.Val752=) c.2307C>A (p.Val769=) c.2034C>A (p.Val678=) c.2358C>A (p.Val786=) c.2268C>A (p.Val756=) c.2259C>A (p.Val753=) | |
| 3 | g.123291159A>C | CA354223416 | ADCY5 | c.1958T>G (p.Val653Gly) c.2246T>G (p.Val749Gly) n.1684T>G c.3356T>G (p.Val1119Gly) c.3281T>G (p.Val1094Gly) c.2231T>G (p.Val744Gly) c.2255T>G (p.Val752Gly) c.2306T>G (p.Val769Gly) c.2033T>G (p.Val678Gly) c.2357T>G (p.Val786Gly) c.2267T>G (p.Val756Gly) c.2258T>G (p.Val753Gly) | |
| 3 | g.123291159A>G | CA354223417 | ADCY5 | c.1958T>C (p.Val653Ala) c.2246T>C (p.Val749Ala) n.1684T>C c.3356T>C (p.Val1119Ala) c.3281T>C (p.Val1094Ala) c.2231T>C (p.Val744Ala) c.2255T>C (p.Val752Ala) c.2306T>C (p.Val769Ala) c.2033T>C (p.Val678Ala) c.2357T>C (p.Val786Ala) c.2267T>C (p.Val756Ala) c.2258T>C (p.Val753Ala) | |
| 3 | g.123291159A>T | CA354223415 | ADCY5 | c.1958T>A (p.Val653Asp) c.2246T>A (p.Val749Asp) n.1684T>A c.3356T>A (p.Val1119Asp) c.3281T>A (p.Val1094Asp) c.2231T>A (p.Val744Asp) c.2255T>A (p.Val752Asp) c.2306T>A (p.Val769Asp) c.2033T>A (p.Val678Asp) c.2357T>A (p.Val786Asp) c.2267T>A (p.Val756Asp) c.2258T>A (p.Val753Asp) | |
| 3 | g.123291160C>A | CA2576813 | ADCY5 | c.1957G>T (p.Val653Phe) c.2245G>T (p.Val749Phe) n.1683G>T c.3355G>T (p.Val1119Phe) c.3280G>T (p.Val1094Phe) c.2230G>T (p.Val744Phe) c.2254G>T (p.Val752Phe) c.2305G>T (p.Val769Phe) c.2032G>T (p.Val678Phe) c.2356G>T (p.Val786Phe) c.2266G>T (p.Val756Phe) c.2257G>T (p.Val753Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.123291160C= | CA1398330375 | ADCY5 | c.1957G= (p.Val653=) c.2245G= (p.Val749=) n.1683G= c.3355G= (p.Val1119=) c.3280G= (p.Val1094=) c.2230G= (p.Val744=) c.2254G= (p.Val752=) c.2305G= (p.Val769=) c.2032G= (p.Val678=) c.2356G= (p.Val786=) c.2266G= (p.Val756=) c.2257G= (p.Val753=) | |
| 3 | g.123291160C>G | CA354223418 | ADCY5 | c.1957G>C (p.Val653Leu) c.2245G>C (p.Val749Leu) n.1683G>C c.3355G>C (p.Val1119Leu) c.3280G>C (p.Val1094Leu) c.2230G>C (p.Val744Leu) c.2254G>C (p.Val752Leu) c.2305G>C (p.Val769Leu) c.2032G>C (p.Val678Leu) c.2356G>C (p.Val786Leu) c.2266G>C (p.Val756Leu) c.2257G>C (p.Val753Leu) | |
| 3 | g.123291160C>T | CA354223419 | ADCY5 | c.1957G>A (p.Val653Ile) c.2245G>A (p.Val749Ile) n.1683G>A c.3355G>A (p.Val1119Ile) c.3280G>A (p.Val1094Ile) c.2230G>A (p.Val744Ile) c.2254G>A (p.Val752Ile) c.2305G>A (p.Val769Ile) c.2032G>A (p.Val678Ile) c.2356G>A (p.Val786Ile) c.2266G>A (p.Val756Ile) c.2257G>A (p.Val753Ile) | |
| 3 | g.123291161A>C | CA435431331 | ADCY5 | c.1956T>G (p.Gly652=) c.2244T>G (p.Gly748=) n.1682T>G c.3354T>G (p.Gly1118=) c.3279T>G (p.Gly1093=) c.2229T>G (p.Gly743=) c.2253T>G (p.Gly751=) c.2304T>G (p.Gly768=) c.2031T>G (p.Gly677=) c.2355T>G (p.Gly785=) c.2265T>G (p.Gly755=) c.2256T>G (p.Gly752=) | |
| 3 | g.123291161A>G | CA435431332 | ADCY5 | c.1956T>C (p.Gly652=) c.2244T>C (p.Gly748=) n.1682T>C c.3354T>C (p.Gly1118=) c.3279T>C (p.Gly1093=) c.2229T>C (p.Gly743=) c.2253T>C (p.Gly751=) c.2304T>C (p.Gly768=) c.2031T>C (p.Gly677=) c.2355T>C (p.Gly785=) c.2265T>C (p.Gly755=) c.2256T>C (p.Gly752=) | |
| 3 | g.123291161A>T | CA435431333 | ADCY5 | c.1956T>A (p.Gly652=) c.2244T>A (p.Gly748=) n.1682T>A c.3354T>A (p.Gly1118=) c.3279T>A (p.Gly1093=) c.2229T>A (p.Gly743=) c.2253T>A (p.Gly751=) c.2304T>A (p.Gly768=) c.2031T>A (p.Gly677=) c.2355T>A (p.Gly785=) c.2265T>A (p.Gly755=) c.2256T>A (p.Gly752=) | |
| 3 | g.123291161_123291162delinsAC | CA1398330376 | ADCY5 | c.1955_1956delinsGT (p.Gly652=) c.2243_2244delinsGT (p.Gly748=) n.1681_1682delinsGT c.3353_3354delinsGT (p.Gly1118=) c.3278_3279delinsGT (p.Gly1093=) c.2228_2229delinsGT (p.Gly743=) c.2252_2253delinsGT (p.Gly751=) c.2303_2304delinsGT (p.Gly768=) c.2030_2031delinsGT (p.Gly677=) c.2354_2355delinsGT (p.Gly785=) c.2264_2265delinsGT (p.Gly755=) c.2255_2256delinsGT (p.Gly752=) | |
| 3 | g.123291162C>A | CA354223420 | ADCY5 | c.1955G>T (p.Gly652Val) c.2243G>T (p.Gly748Val) n.1681G>T c.3353G>T (p.Gly1118Val) c.3278G>T (p.Gly1093Val) c.2228G>T (p.Gly743Val) c.2252G>T (p.Gly751Val) c.2303G>T (p.Gly768Val) c.2030G>T (p.Gly677Val) c.2354G>T (p.Gly785Val) c.2264G>T (p.Gly755Val) c.2255G>T (p.Gly752Val) | |
| 3 | g.123291162C>G | CA354223421 | ADCY5 | c.1955G>C (p.Gly652Ala) c.2243G>C (p.Gly748Ala) n.1681G>C c.3353G>C (p.Gly1118Ala) c.3278G>C (p.Gly1093Ala) c.2228G>C (p.Gly743Ala) c.2252G>C (p.Gly751Ala) c.2303G>C (p.Gly768Ala) c.2030G>C (p.Gly677Ala) c.2354G>C (p.Gly785Ala) c.2264G>C (p.Gly755Ala) c.2255G>C (p.Gly752Ala) | |
| 3 | g.123291162C>T | CA354223422 | ADCY5 | c.1955G>A (p.Gly652Asp) c.2243G>A (p.Gly748Asp) n.1681G>A c.3353G>A (p.Gly1118Asp) c.3278G>A (p.Gly1093Asp) c.2228G>A (p.Gly743Asp) c.2252G>A (p.Gly751Asp) c.2303G>A (p.Gly768Asp) c.2030G>A (p.Gly677Asp) c.2354G>A (p.Gly785Asp) c.2264G>A (p.Gly755Asp) c.2255G>A (p.Gly752Asp) | |
| 3 | g.123291164del | CA2576814 | ADCY5 | c.1955del (p.Gly652ValfsTer?) c.2243del (p.Gly748ValfsTer?) n.1681del c.3353del (p.Gly1118ValfsTer?) c.3278del (p.Gly1093ValfsTer?) c.2228del (p.Gly743ValfsTer?) c.2252del (p.Gly751ValfsTer?) c.2303del (p.Gly768ValfsTer?) c.2030del (p.Gly677ValfsTer?) c.2354del (p.Gly785ValfsTer?) c.2264del (p.Gly755ValfsTer?) c.2255del (p.Gly752ValfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.123291163C>A | CA354223423 | ADCY5 | c.1954G>T (p.Gly652Cys) c.2242G>T (p.Gly748Cys) n.1680G>T c.3352G>T (p.Gly1118Cys) c.3277G>T (p.Gly1093Cys) c.2227G>T (p.Gly743Cys) c.2251G>T (p.Gly751Cys) c.2302G>T (p.Gly768Cys) c.2029G>T (p.Gly677Cys) c.2353G>T (p.Gly785Cys) c.2263G>T (p.Gly755Cys) c.2254G>T (p.Gly752Cys) | |
| 3 | g.123291163C= | CA1398330377 | ADCY5 | c.1954G= (p.Gly652=) c.2242G= (p.Gly748=) n.1680G= c.3352G= (p.Gly1118=) c.3277G= (p.Gly1093=) c.2227G= (p.Gly743=) c.2251G= (p.Gly751=) c.2302G= (p.Gly768=) c.2029G= (p.Gly677=) c.2353G= (p.Gly785=) c.2263G= (p.Gly755=) c.2254G= (p.Gly752=) | |
| 3 | g.123291163C>G | CA354223424 | ADCY5 | c.1954G>C (p.Gly652Arg) c.2242G>C (p.Gly748Arg) n.1680G>C c.3352G>C (p.Gly1118Arg) c.3277G>C (p.Gly1093Arg) c.2227G>C (p.Gly743Arg) c.2251G>C (p.Gly751Arg) c.2302G>C (p.Gly768Arg) c.2029G>C (p.Gly677Arg) c.2353G>C (p.Gly785Arg) c.2263G>C (p.Gly755Arg) c.2254G>C (p.Gly752Arg) | |
| 3 | g.123291163C>T | CA354223425 | ADCY5 | c.1954G>A (p.Gly652Ser) c.2242G>A (p.Gly748Ser) n.1680G>A c.3352G>A (p.Gly1118Ser) c.3277G>A (p.Gly1093Ser) c.2227G>A (p.Gly743Ser) c.2251G>A (p.Gly751Ser) c.2302G>A (p.Gly768Ser) c.2029G>A (p.Gly677Ser) c.2353G>A (p.Gly785Ser) c.2263G>A (p.Gly755Ser) c.2254G>A (p.Gly752Ser) | ClinVar dbSNP gnomAD v4 |
| 3 | g.123291164C>A | CA354223426 | ADCY5 | c.1953G>T (p.Glu651Asp) c.2241G>T (p.Glu747Asp) n.1679G>T c.3351G>T (p.Glu1117Asp) c.3276G>T (p.Glu1092Asp) c.2226G>T (p.Glu742Asp) c.2250G>T (p.Glu750Asp) c.2301G>T (p.Glu767Asp) c.2028G>T (p.Glu676Asp) c.2352G>T (p.Glu784Asp) c.2262G>T (p.Glu754Asp) c.2253G>T (p.Glu751Asp) | |
| 3 | g.123291164C>G | CA354223427 | ADCY5 | c.1953G>C (p.Glu651Asp) c.2241G>C (p.Glu747Asp) n.1679G>C c.3351G>C (p.Glu1117Asp) c.3276G>C (p.Glu1092Asp) c.2226G>C (p.Glu742Asp) c.2250G>C (p.Glu750Asp) c.2301G>C (p.Glu767Asp) c.2028G>C (p.Glu676Asp) c.2352G>C (p.Glu784Asp) c.2262G>C (p.Glu754Asp) c.2253G>C (p.Glu751Asp) | gnomAD v4 |
| 3 | g.123291164C>T | CA435431337 | ADCY5 | c.1953G>A (p.Glu651=) c.2241G>A (p.Glu747=) n.1679G>A c.3351G>A (p.Glu1117=) c.3276G>A (p.Glu1092=) c.2226G>A (p.Glu742=) c.2250G>A (p.Glu750=) c.2301G>A (p.Glu767=) c.2028G>A (p.Glu676=) c.2352G>A (p.Glu784=) c.2262G>A (p.Glu754=) c.2253G>A (p.Glu751=) | gnomAD v4 |
| 3 | g.123291165T>A | CA354223430 | ADCY5 | c.1952A>T (p.Glu651Val) c.2240A>T (p.Glu747Val) n.1678A>T c.3350A>T (p.Glu1117Val) c.3275A>T (p.Glu1092Val) c.2225A>T (p.Glu742Val) c.2249A>T (p.Glu750Val) c.2300A>T (p.Glu767Val) c.2027A>T (p.Glu676Val) c.2351A>T (p.Glu784Val) c.2261A>T (p.Glu754Val) c.2252A>T (p.Glu751Val) | |
| 3 | g.123291165T>C | CA354223429 | ADCY5 | c.1952A>G (p.Glu651Gly) c.2240A>G (p.Glu747Gly) n.1678A>G c.3350A>G (p.Glu1117Gly) c.3275A>G (p.Glu1092Gly) c.2225A>G (p.Glu742Gly) c.2249A>G (p.Glu750Gly) c.2300A>G (p.Glu767Gly) c.2027A>G (p.Glu676Gly) c.2351A>G (p.Glu784Gly) c.2261A>G (p.Glu754Gly) c.2252A>G (p.Glu751Gly) | |
| 3 | g.123291165T>G | CA354223428 | ADCY5 | c.1952A>C (p.Glu651Ala) c.2240A>C (p.Glu747Ala) n.1678A>C c.3350A>C (p.Glu1117Ala) c.3275A>C (p.Glu1092Ala) c.2225A>C (p.Glu742Ala) c.2249A>C (p.Glu750Ala) c.2300A>C (p.Glu767Ala) c.2027A>C (p.Glu676Ala) c.2351A>C (p.Glu784Ala) c.2261A>C (p.Glu754Ala) c.2252A>C (p.Glu751Ala) | |
| 3 | g.123291166C>A | CA354223431 | ADCY5 | c.1951G>T (p.Glu651Ter) c.2239G>T (p.Glu747Ter) n.1677G>T c.3349G>T (p.Glu1117Ter) c.3274G>T (p.Glu1092Ter) c.2224G>T (p.Glu742Ter) c.2248G>T (p.Glu750Ter) c.2299G>T (p.Glu767Ter) c.2026G>T (p.Glu676Ter) c.2350G>T (p.Glu784Ter) c.2260G>T (p.Glu754Ter) c.2251G>T (p.Glu751Ter) | dbSNP |
| 3 | g.123291166C= | CA1398330378 | ADCY5 | c.1951G= (p.Glu651=) c.2239G= (p.Glu747=) n.1677G= c.3349G= (p.Glu1117=) c.3274G= (p.Glu1092=) c.2224G= (p.Glu742=) c.2248G= (p.Glu750=) c.2299G= (p.Glu767=) c.2026G= (p.Glu676=) c.2350G= (p.Glu784=) c.2260G= (p.Glu754=) c.2251G= (p.Glu751=) | |
| 3 | g.123291166C>G | CA354223432 | ADCY5 | c.1951G>C (p.Glu651Gln) c.2239G>C (p.Glu747Gln) n.1677G>C c.3349G>C (p.Glu1117Gln) c.3274G>C (p.Glu1092Gln) c.2224G>C (p.Glu742Gln) c.2248G>C (p.Glu750Gln) c.2299G>C (p.Glu767Gln) c.2026G>C (p.Glu676Gln) c.2350G>C (p.Glu784Gln) c.2260G>C (p.Glu754Gln) c.2251G>C (p.Glu751Gln) | |
| 3 | g.123291166C>T | CA354223433 | ADCY5 | c.1951G>A (p.Glu651Lys) c.2239G>A (p.Glu747Lys) n.1677G>A c.3349G>A (p.Glu1117Lys) c.3274G>A (p.Glu1092Lys) c.2224G>A (p.Glu742Lys) c.2248G>A (p.Glu750Lys) c.2299G>A (p.Glu767Lys) c.2026G>A (p.Glu676Lys) c.2350G>A (p.Glu784Lys) c.2260G>A (p.Glu754Lys) c.2251G>A (p.Glu751Lys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.123291167G>A | CA2576815 | ADCY5 | c.1950C>T (p.Asn650=) c.2238C>T (p.Asn746=) n.1676C>T c.3348C>T (p.Asn1116=) c.3273C>T (p.Asn1091=) c.2223C>T (p.Asn741=) c.2247C>T (p.Asn749=) c.2298C>T (p.Asn766=) c.2025C>T (p.Asn675=) c.2349C>T (p.Asn783=) c.2259C>T (p.Asn753=) c.2250C>T (p.Asn750=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.123291167G>C | CA354223434 | ADCY5 | c.1950C>G (p.Asn650Lys) c.2238C>G (p.Asn746Lys) n.1676C>G c.3348C>G (p.Asn1116Lys) c.3273C>G (p.Asn1091Lys) c.2223C>G (p.Asn741Lys) c.2247C>G (p.Asn749Lys) c.2298C>G (p.Asn766Lys) c.2025C>G (p.Asn675Lys) c.2349C>G (p.Asn783Lys) c.2259C>G (p.Asn753Lys) c.2250C>G (p.Asn750Lys) | |
| 3 | g.123291167G= | CA1398330379 | ADCY5 | c.1950C= (p.Asn650=) c.2238C= (p.Asn746=) n.1676C= c.3348C= (p.Asn1116=) c.3273C= (p.Asn1091=) c.2223C= (p.Asn741=) c.2247C= (p.Asn749=) c.2298C= (p.Asn766=) c.2025C= (p.Asn675=) c.2349C= (p.Asn783=) c.2259C= (p.Asn753=) c.2250C= (p.Asn750=) | |
| 3 | g.123291167G>T | CA354223435 | ADCY5 | c.1950C>A (p.Asn650Lys) c.2238C>A (p.Asn746Lys) n.1676C>A c.3348C>A (p.Asn1116Lys) c.3273C>A (p.Asn1091Lys) c.2223C>A (p.Asn741Lys) c.2247C>A (p.Asn749Lys) c.2298C>A (p.Asn766Lys) c.2025C>A (p.Asn675Lys) c.2349C>A (p.Asn783Lys) c.2259C>A (p.Asn753Lys) c.2250C>A (p.Asn750Lys) | |
| 3 | g.123291171_123291173del | CA2667290330 | ADCY5 | c.1948_1950del (p.Asn650del) c.2236_2238del (p.Asn746del) n.1674_1676del c.3346_3348del (p.Asn1116del) c.3271_3273del (p.Asn1091del) c.2221_2223del (p.Asn741del) c.2245_2247del (p.Asn749del) c.2296_2298del (p.Asn766del) c.2023_2025del (p.Asn675del) c.2347_2349del (p.Asn783del) c.2257_2259del (p.Asn753del) c.2248_2250del (p.Asn750del) | gnomAD v4 |
| 3 | g.123291168T>A | CA354223436 | ADCY5 | c.1949A>T (p.Asn650Ile) c.2237A>T (p.Asn746Ile) n.1675A>T c.3347A>T (p.Asn1116Ile) c.3272A>T (p.Asn1091Ile) c.2222A>T (p.Asn741Ile) c.2246A>T (p.Asn749Ile) c.2297A>T (p.Asn766Ile) c.2024A>T (p.Asn675Ile) c.2348A>T (p.Asn783Ile) c.2258A>T (p.Asn753Ile) c.2249A>T (p.Asn750Ile) | |
| 3 | g.123291168T>C | CA354223437 | ADCY5 | c.1949A>G (p.Asn650Ser) c.2237A>G (p.Asn746Ser) n.1675A>G c.3347A>G (p.Asn1116Ser) c.3272A>G (p.Asn1091Ser) c.2222A>G (p.Asn741Ser) c.2246A>G (p.Asn749Ser) c.2297A>G (p.Asn766Ser) c.2024A>G (p.Asn675Ser) c.2348A>G (p.Asn783Ser) c.2258A>G (p.Asn753Ser) c.2249A>G (p.Asn750Ser) | |
| 3 | g.123291168T>G | CA354223438 | ADCY5 | c.1949A>C (p.Asn650Thr) c.2237A>C (p.Asn746Thr) n.1675A>C c.3347A>C (p.Asn1116Thr) c.3272A>C (p.Asn1091Thr) c.2222A>C (p.Asn741Thr) c.2246A>C (p.Asn749Thr) c.2297A>C (p.Asn766Thr) c.2024A>C (p.Asn675Thr) c.2348A>C (p.Asn783Thr) c.2258A>C (p.Asn753Thr) c.2249A>C (p.Asn750Thr) | |
| 3 | g.123291169T>A | CA354223439 | ADCY5 | c.1948A>T (p.Asn650Tyr) c.2236A>T (p.Asn746Tyr) n.1674A>T c.3346A>T (p.Asn1116Tyr) c.3271A>T (p.Asn1091Tyr) c.2221A>T (p.Asn741Tyr) c.2245A>T (p.Asn749Tyr) c.2296A>T (p.Asn766Tyr) c.2023A>T (p.Asn675Tyr) c.2347A>T (p.Asn783Tyr) c.2257A>T (p.Asn753Tyr) c.2248A>T (p.Asn750Tyr) | |
| 3 | g.123291169T>C | CA354223440 | ADCY5 | c.1948A>G (p.Asn650Asp) c.2236A>G (p.Asn746Asp) n.1674A>G c.3346A>G (p.Asn1116Asp) c.3271A>G (p.Asn1091Asp) c.2221A>G (p.Asn741Asp) c.2245A>G (p.Asn749Asp) c.2296A>G (p.Asn766Asp) c.2023A>G (p.Asn675Asp) c.2347A>G (p.Asn783Asp) c.2257A>G (p.Asn753Asp) c.2248A>G (p.Asn750Asp) | |
| 3 | g.123291169T>G | CA354223441 | ADCY5 | c.1948A>C (p.Asn650His) c.2236A>C (p.Asn746His) n.1674A>C c.3346A>C (p.Asn1116His) c.3271A>C (p.Asn1091His) c.2221A>C (p.Asn741His) c.2245A>C (p.Asn749His) c.2296A>C (p.Asn766His) c.2023A>C (p.Asn675His) c.2347A>C (p.Asn783His) c.2257A>C (p.Asn753His) c.2248A>C (p.Asn750His) | |
| 3 | g.123291170G>A | CA435431339 | ADCY5 | c.1947C>T (p.Asn649=) c.2235C>T (p.Asn745=) n.1673C>T c.3345C>T (p.Asn1115=) c.3270C>T (p.Asn1090=) c.2220C>T (p.Asn740=) c.2244C>T (p.Asn748=) c.2295C>T (p.Asn765=) c.2022C>T (p.Asn674=) c.2346C>T (p.Asn782=) c.2256C>T (p.Asn752=) c.2247C>T (p.Asn749=) | |
| 3 | g.123291170G>C | CA354223442 | ADCY5 | c.1947C>G (p.Asn649Lys) c.2235C>G (p.Asn745Lys) n.1673C>G c.3345C>G (p.Asn1115Lys) c.3270C>G (p.Asn1090Lys) c.2220C>G (p.Asn740Lys) c.2244C>G (p.Asn748Lys) c.2295C>G (p.Asn765Lys) c.2022C>G (p.Asn674Lys) c.2346C>G (p.Asn782Lys) c.2256C>G (p.Asn752Lys) c.2247C>G (p.Asn749Lys) | |
| 3 | g.123291170G= | CA1398330380 | ADCY5 | c.1947C= (p.Asn649=) c.2235C= (p.Asn745=) n.1673C= c.3345C= (p.Asn1115=) c.3270C= (p.Asn1090=) c.2220C= (p.Asn740=) c.2244C= (p.Asn748=) c.2295C= (p.Asn765=) c.2022C= (p.Asn674=) c.2346C= (p.Asn782=) c.2256C= (p.Asn752=) c.2247C= (p.Asn749=) | |
| 3 | g.123291170G>T | CA354223443 | ADCY5 | c.1947C>A (p.Asn649Lys) c.2235C>A (p.Asn745Lys) n.1673C>A c.3345C>A (p.Asn1115Lys) c.3270C>A (p.Asn1090Lys) c.2220C>A (p.Asn740Lys) c.2244C>A (p.Asn748Lys) c.2295C>A (p.Asn765Lys) c.2022C>A (p.Asn674Lys) c.2346C>A (p.Asn782Lys) c.2256C>A (p.Asn752Lys) c.2247C>A (p.Asn749Lys) | dbSNP |
| 3 | g.123291171T>A | CA354223445 | ADCY5 | c.1946A>T (p.Asn649Ile) c.2234A>T (p.Asn745Ile) n.1672A>T c.3344A>T (p.Asn1115Ile) c.3269A>T (p.Asn1090Ile) c.2219A>T (p.Asn740Ile) c.2243A>T (p.Asn748Ile) c.2294A>T (p.Asn765Ile) c.2021A>T (p.Asn674Ile) c.2345A>T (p.Asn782Ile) c.2255A>T (p.Asn752Ile) c.2246A>T (p.Asn749Ile) | |
| 3 | g.123291171T>C | CA354223446 | ADCY5 | c.1946A>G (p.Asn649Ser) c.2234A>G (p.Asn745Ser) n.1672A>G c.3344A>G (p.Asn1115Ser) c.3269A>G (p.Asn1090Ser) c.2219A>G (p.Asn740Ser) c.2243A>G (p.Asn748Ser) c.2294A>G (p.Asn765Ser) c.2021A>G (p.Asn674Ser) c.2345A>G (p.Asn782Ser) c.2255A>G (p.Asn752Ser) c.2246A>G (p.Asn749Ser) | |
| 3 | g.123291171T>G | CA354223444 | ADCY5 | c.1946A>C (p.Asn649Thr) c.2234A>C (p.Asn745Thr) n.1672A>C c.3344A>C (p.Asn1115Thr) c.3269A>C (p.Asn1090Thr) c.2219A>C (p.Asn740Thr) c.2243A>C (p.Asn748Thr) c.2294A>C (p.Asn765Thr) c.2021A>C (p.Asn674Thr) c.2345A>C (p.Asn782Thr) c.2255A>C (p.Asn752Thr) c.2246A>C (p.Asn749Thr) | |
| 3 | g.123291172T>A | CA354223447 | ADCY5 | c.1945A>T (p.Asn649Tyr) c.2233A>T (p.Asn745Tyr) n.1671A>T c.3343A>T (p.Asn1115Tyr) c.3268A>T (p.Asn1090Tyr) c.2218A>T (p.Asn740Tyr) c.2242A>T (p.Asn748Tyr) c.2293A>T (p.Asn765Tyr) c.2020A>T (p.Asn674Tyr) c.2344A>T (p.Asn782Tyr) c.2254A>T (p.Asn752Tyr) c.2245A>T (p.Asn749Tyr) | |
| 3 | g.123291172T>C | CA354223448 | ADCY5 | c.1945A>G (p.Asn649Asp) c.2233A>G (p.Asn745Asp) n.1671A>G c.3343A>G (p.Asn1115Asp) c.3268A>G (p.Asn1090Asp) c.2218A>G (p.Asn740Asp) c.2242A>G (p.Asn748Asp) c.2293A>G (p.Asn765Asp) c.2020A>G (p.Asn674Asp) c.2344A>G (p.Asn782Asp) c.2254A>G (p.Asn752Asp) c.2245A>G (p.Asn749Asp) | |
| 3 | g.123291172T>G | CA354223449 | ADCY5 | c.1945A>C (p.Asn649His) c.2233A>C (p.Asn745His) n.1671A>C c.3343A>C (p.Asn1115His) c.3268A>C (p.Asn1090His) c.2218A>C (p.Asn740His) c.2242A>C (p.Asn748His) c.2293A>C (p.Asn765His) c.2020A>C (p.Asn674His) c.2344A>C (p.Asn782His) c.2254A>C (p.Asn752His) c.2245A>C (p.Asn749His) | |
| 3 | g.123291173G>A | CA435431345 | ADCY5 | c.1944C>T (p.Ala648=) c.2232C>T (p.Ala744=) n.1670C>T c.3342C>T (p.Ala1114=) c.3267C>T (p.Ala1089=) c.2217C>T (p.Ala739=) c.2241C>T (p.Ala747=) c.2292C>T (p.Ala764=) c.2019C>T (p.Ala673=) c.2343C>T (p.Ala781=) c.2253C>T (p.Ala751=) c.2244C>T (p.Ala748=) | |
| 3 | g.123291173G>C | CA82903985 | ADCY5 | c.1944C>G (p.Ala648=) c.2232C>G (p.Ala744=) n.1670C>G c.3342C>G (p.Ala1114=) c.3267C>G (p.Ala1089=) c.2217C>G (p.Ala739=) c.2241C>G (p.Ala747=) c.2292C>G (p.Ala764=) c.2019C>G (p.Ala673=) c.2343C>G (p.Ala781=) c.2253C>G (p.Ala751=) c.2244C>G (p.Ala748=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.123291173G= | CA1398330381 | ADCY5 | c.1944C= (p.Ala648=) c.2232C= (p.Ala744=) n.1670C= c.3342C= (p.Ala1114=) c.3267C= (p.Ala1089=) c.2217C= (p.Ala739=) c.2241C= (p.Ala747=) c.2292C= (p.Ala764=) c.2019C= (p.Ala673=) c.2343C= (p.Ala781=) c.2253C= (p.Ala751=) c.2244C= (p.Ala748=) | |
| 3 | g.123291173G>T | CA435431344 | ADCY5 | c.1944C>A (p.Ala648=) c.2232C>A (p.Ala744=) n.1670C>A c.3342C>A (p.Ala1114=) c.3267C>A (p.Ala1089=) c.2217C>A (p.Ala739=) c.2241C>A (p.Ala747=) c.2292C>A (p.Ala764=) c.2019C>A (p.Ala673=) c.2343C>A (p.Ala781=) c.2253C>A (p.Ala751=) c.2244C>A (p.Ala748=) | gnomAD v4 |
| 3 | g.123291174G>A | CA354223450 | ADCY5 | c.1943C>T (p.Ala648Val) c.2231C>T (p.Ala744Val) n.1669C>T c.3341C>T (p.Ala1114Val) c.3266C>T (p.Ala1089Val) c.2216C>T (p.Ala739Val) c.2240C>T (p.Ala747Val) c.2291C>T (p.Ala764Val) c.2018C>T (p.Ala673Val) c.2342C>T (p.Ala781Val) c.2252C>T (p.Ala751Val) c.2243C>T (p.Ala748Val) | COSMIC |
| 3 | g.123291174G>C | CA354223451 | ADCY5 | c.1943C>G (p.Ala648Gly) c.2231C>G (p.Ala744Gly) n.1669C>G c.3341C>G (p.Ala1114Gly) c.3266C>G (p.Ala1089Gly) c.2216C>G (p.Ala739Gly) c.2240C>G (p.Ala747Gly) c.2291C>G (p.Ala764Gly) c.2018C>G (p.Ala673Gly) c.2342C>G (p.Ala781Gly) c.2252C>G (p.Ala751Gly) c.2243C>G (p.Ala748Gly) | |
| 3 | g.123291174G>T | CA354223452 | ADCY5 | c.1943C>A (p.Ala648Asp) c.2231C>A (p.Ala744Asp) n.1669C>A c.3341C>A (p.Ala1114Asp) c.3266C>A (p.Ala1089Asp) c.2216C>A (p.Ala739Asp) c.2240C>A (p.Ala747Asp) c.2291C>A (p.Ala764Asp) c.2018C>A (p.Ala673Asp) c.2342C>A (p.Ala781Asp) c.2252C>A (p.Ala751Asp) c.2243C>A (p.Ala748Asp) | |
| 3 | g.123291175C>A | CA354223455 | ADCY5 | c.1942G>T (p.Ala648Ser) c.2230G>T (p.Ala744Ser) n.1668G>T c.3340G>T (p.Ala1114Ser) c.3265G>T (p.Ala1089Ser) c.2215G>T (p.Ala739Ser) c.2239G>T (p.Ala747Ser) c.2290G>T (p.Ala764Ser) c.2017G>T (p.Ala673Ser) c.2341G>T (p.Ala781Ser) c.2251G>T (p.Ala751Ser) c.2242G>T (p.Ala748Ser) | |
| 3 | g.123291175C>G | CA354223453 | ADCY5 | c.1942G>C (p.Ala648Pro) c.2230G>C (p.Ala744Pro) n.1668G>C c.3340G>C (p.Ala1114Pro) c.3265G>C (p.Ala1089Pro) c.2215G>C (p.Ala739Pro) c.2239G>C (p.Ala747Pro) c.2290G>C (p.Ala764Pro) c.2017G>C (p.Ala673Pro) c.2341G>C (p.Ala781Pro) c.2251G>C (p.Ala751Pro) c.2242G>C (p.Ala748Pro) | |
| 3 | g.123291175C>T | CA354223454 | ADCY5 | c.1942G>A (p.Ala648Thr) c.2230G>A (p.Ala744Thr) n.1668G>A c.3340G>A (p.Ala1114Thr) c.3265G>A (p.Ala1089Thr) c.2215G>A (p.Ala739Thr) c.2239G>A (p.Ala747Thr) c.2290G>A (p.Ala764Thr) c.2017G>A (p.Ala673Thr) c.2341G>A (p.Ala781Thr) c.2251G>A (p.Ala751Thr) c.2242G>A (p.Ala748Thr) | |
| 3 | g.123291176C>A | CA354223456 | ADCY5 | c.1941G>T (p.Glu647Asp) c.2229G>T (p.Glu743Asp) n.1667G>T c.3339G>T (p.Glu1113Asp) c.3264G>T (p.Glu1088Asp) c.2214G>T (p.Glu738Asp) c.2238G>T (p.Glu746Asp) c.2289G>T (p.Glu763Asp) c.2016G>T (p.Glu672Asp) c.2340G>T (p.Glu780Asp) c.2250G>T (p.Glu750Asp) c.2241G>T (p.Glu747Asp) | |
| 3 | g.123291176C>G | CA354223457 | ADCY5 | c.1941G>C (p.Glu647Asp) c.2229G>C (p.Glu743Asp) n.1667G>C c.3339G>C (p.Glu1113Asp) c.3264G>C (p.Glu1088Asp) c.2214G>C (p.Glu738Asp) c.2238G>C (p.Glu746Asp) c.2289G>C (p.Glu763Asp) c.2016G>C (p.Glu672Asp) c.2340G>C (p.Glu780Asp) c.2250G>C (p.Glu750Asp) c.2241G>C (p.Glu747Asp) | gnomAD v4 |
| 3 | g.123291176C>T | CA435431350 | ADCY5 | c.1941G>A (p.Glu647=) c.2229G>A (p.Glu743=) n.1667G>A c.3339G>A (p.Glu1113=) c.3264G>A (p.Glu1088=) c.2214G>A (p.Glu738=) c.2238G>A (p.Glu746=) c.2289G>A (p.Glu763=) c.2016G>A (p.Glu672=) c.2340G>A (p.Glu780=) c.2250G>A (p.Glu750=) c.2241G>A (p.Glu747=) | |
| 3 | g.123291177T>A | CA354223458 | ADCY5 | c.1940A>T (p.Glu647Val) c.2228A>T (p.Glu743Val) n.1666A>T c.3338A>T (p.Glu1113Val) c.3263A>T (p.Glu1088Val) c.2213A>T (p.Glu738Val) c.2237A>T (p.Glu746Val) c.2288A>T (p.Glu763Val) c.2015A>T (p.Glu672Val) c.2339A>T (p.Glu780Val) c.2249A>T (p.Glu750Val) c.2240A>T (p.Glu747Val) | |
| 3 | g.123291177T>C | CA354223459 | ADCY5 | c.1940A>G (p.Glu647Gly) c.2228A>G (p.Glu743Gly) n.1666A>G c.3338A>G (p.Glu1113Gly) c.3263A>G (p.Glu1088Gly) c.2213A>G (p.Glu738Gly) c.2237A>G (p.Glu746Gly) c.2288A>G (p.Glu763Gly) c.2015A>G (p.Glu672Gly) c.2339A>G (p.Glu780Gly) c.2249A>G (p.Glu750Gly) c.2240A>G (p.Glu747Gly) | |
| 3 | g.123291177T>G | CA354223460 | ADCY5 | c.1940A>C (p.Glu647Ala) c.2228A>C (p.Glu743Ala) n.1666A>C c.3338A>C (p.Glu1113Ala) c.3263A>C (p.Glu1088Ala) c.2213A>C (p.Glu738Ala) c.2237A>C (p.Glu746Ala) c.2288A>C (p.Glu763Ala) c.2015A>C (p.Glu672Ala) c.2339A>C (p.Glu780Ala) c.2249A>C (p.Glu750Ala) c.2240A>C (p.Glu747Ala) | |
| 3 | g.123291178C>A | CA354223461 | ADCY5 | c.1939G>T (p.Glu647Ter) c.2227G>T (p.Glu743Ter) n.1665G>T c.3337G>T (p.Glu1113Ter) c.3262G>T (p.Glu1088Ter) c.2212G>T (p.Glu738Ter) c.2236G>T (p.Glu746Ter) c.2287G>T (p.Glu763Ter) c.2014G>T (p.Glu672Ter) c.2338G>T (p.Glu780Ter) c.2248G>T (p.Glu750Ter) c.2239G>T (p.Glu747Ter) | dbSNP |
| 3 | g.123291178C= | CA1398330382 | ADCY5 | c.1939G= (p.Glu647=) c.2227G= (p.Glu743=) n.1665G= c.3337G= (p.Glu1113=) c.3262G= (p.Glu1088=) c.2212G= (p.Glu738=) c.2236G= (p.Glu746=) c.2287G= (p.Glu763=) c.2014G= (p.Glu672=) c.2338G= (p.Glu780=) c.2248G= (p.Glu750=) c.2239G= (p.Glu747=) | |
| 3 | g.123291178C>G | CA354223463 | ADCY5 | c.1939G>C (p.Glu647Gln) c.2227G>C (p.Glu743Gln) n.1665G>C c.3337G>C (p.Glu1113Gln) c.3262G>C (p.Glu1088Gln) c.2212G>C (p.Glu738Gln) c.2236G>C (p.Glu746Gln) c.2287G>C (p.Glu763Gln) c.2014G>C (p.Glu672Gln) c.2338G>C (p.Glu780Gln) c.2248G>C (p.Glu750Gln) c.2239G>C (p.Glu747Gln) | |
| 3 | g.123291178C>T | CA354223462 | ADCY5 | c.1939G>A (p.Glu647Lys) c.2227G>A (p.Glu743Lys) n.1665G>A c.3337G>A (p.Glu1113Lys) c.3262G>A (p.Glu1088Lys) c.2212G>A (p.Glu738Lys) c.2236G>A (p.Glu746Lys) c.2287G>A (p.Glu763Lys) c.2014G>A (p.Glu672Lys) c.2338G>A (p.Glu780Lys) c.2248G>A (p.Glu750Lys) c.2239G>A (p.Glu747Lys) | |
| 3 | g.123291179C>A | CA435431357 | ADCY5 | c.1938G>T (p.Leu646=) c.2226G>T (p.Leu742=) n.1664G>T c.3336G>T (p.Leu1112=) c.3261G>T (p.Leu1087=) c.2211G>T (p.Leu737=) c.2235G>T (p.Leu745=) c.2286G>T (p.Leu762=) c.2013G>T (p.Leu671=) c.2337G>T (p.Leu779=) c.2247G>T (p.Leu749=) c.2238G>T (p.Leu746=) | |
| 3 | g.123291179C>G | CA435431358 | ADCY5 | c.1938G>C (p.Leu646=) c.2226G>C (p.Leu742=) n.1664G>C c.3336G>C (p.Leu1112=) c.3261G>C (p.Leu1087=) c.2211G>C (p.Leu737=) c.2235G>C (p.Leu745=) c.2286G>C (p.Leu762=) c.2013G>C (p.Leu671=) c.2337G>C (p.Leu779=) c.2247G>C (p.Leu749=) c.2238G>C (p.Leu746=) | |
| 3 | g.123291179C>T | CA435431355 | ADCY5 | c.1938G>A (p.Leu646=) c.2226G>A (p.Leu742=) n.1664G>A c.3336G>A (p.Leu1112=) c.3261G>A (p.Leu1087=) c.2211G>A (p.Leu737=) c.2235G>A (p.Leu745=) c.2286G>A (p.Leu762=) c.2013G>A (p.Leu671=) c.2337G>A (p.Leu779=) c.2247G>A (p.Leu749=) c.2238G>A (p.Leu746=) | gnomAD v4 |
| 3 | g.123291180A>C | CA354223464 | ADCY5 | c.1937T>G (p.Leu646Arg) c.2225T>G (p.Leu742Arg) n.1663T>G c.3335T>G (p.Leu1112Arg) c.3260T>G (p.Leu1087Arg) c.2210T>G (p.Leu737Arg) c.2234T>G (p.Leu745Arg) c.2285T>G (p.Leu762Arg) c.2012T>G (p.Leu671Arg) c.2336T>G (p.Leu779Arg) c.2246T>G (p.Leu749Arg) c.2237T>G (p.Leu746Arg) | |
| 3 | g.123291180A>G | CA354223465 | ADCY5 | c.1937T>C (p.Leu646Pro) c.2225T>C (p.Leu742Pro) n.1663T>C c.3335T>C (p.Leu1112Pro) c.3260T>C (p.Leu1087Pro) c.2210T>C (p.Leu737Pro) c.2234T>C (p.Leu745Pro) c.2285T>C (p.Leu762Pro) c.2012T>C (p.Leu671Pro) c.2336T>C (p.Leu779Pro) c.2246T>C (p.Leu749Pro) c.2237T>C (p.Leu746Pro) | |
| 3 | g.123291180A>T | CA354223466 | ADCY5 | c.1937T>A (p.Leu646Gln) c.2225T>A (p.Leu742Gln) n.1663T>A c.3335T>A (p.Leu1112Gln) c.3260T>A (p.Leu1087Gln) c.2210T>A (p.Leu737Gln) c.2234T>A (p.Leu745Gln) c.2285T>A (p.Leu762Gln) c.2012T>A (p.Leu671Gln) c.2336T>A (p.Leu779Gln) c.2246T>A (p.Leu749Gln) c.2237T>A (p.Leu746Gln) | |
| 3 | g.123291181G>A | CA435431359 | ADCY5 | c.1936C>T (p.Leu646=) c.2224C>T (p.Leu742=) n.1662C>T c.3334C>T (p.Leu1112=) c.3259C>T (p.Leu1087=) c.2209C>T (p.Leu737=) c.2233C>T (p.Leu745=) c.2284C>T (p.Leu762=) c.2011C>T (p.Leu671=) c.2335C>T (p.Leu779=) c.2245C>T (p.Leu749=) c.2236C>T (p.Leu746=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.123291181G>C | CA354223467 | ADCY5 | c.1936C>G (p.Leu646Val) c.2224C>G (p.Leu742Val) n.1662C>G c.3334C>G (p.Leu1112Val) c.3259C>G (p.Leu1087Val) c.2209C>G (p.Leu737Val) c.2233C>G (p.Leu745Val) c.2284C>G (p.Leu762Val) c.2011C>G (p.Leu671Val) c.2335C>G (p.Leu779Val) c.2245C>G (p.Leu749Val) c.2236C>G (p.Leu746Val) | |
| 3 | g.123291181G>T | CA354223468 | ADCY5 | c.1936C>A (p.Leu646Met) c.2224C>A (p.Leu742Met) n.1662C>A c.3334C>A (p.Leu1112Met) c.3259C>A (p.Leu1087Met) c.2209C>A (p.Leu737Met) c.2233C>A (p.Leu745Met) c.2284C>A (p.Leu762Met) c.2011C>A (p.Leu671Met) c.2335C>A (p.Leu779Met) c.2245C>A (p.Leu749Met) c.2236C>A (p.Leu746Met) | |
| 3 | g.123291182C>A | CA354223469 | ADCY5 | c.1935G>T (p.Glu645Asp) c.2223G>T (p.Glu741Asp) n.1661G>T c.3333G>T (p.Glu1111Asp) c.3258G>T (p.Glu1086Asp) c.2208G>T (p.Glu736Asp) c.2232G>T (p.Glu744Asp) c.2283G>T (p.Glu761Asp) c.2010G>T (p.Glu670Asp) c.2334G>T (p.Glu778Asp) c.2244G>T (p.Glu748Asp) c.2235G>T (p.Glu745Asp) | |
| 3 | g.123291182C= | CA1398330383 | ADCY5 | c.1935G= (p.Glu645=) c.2223G= (p.Glu741=) n.1661G= c.3333G= (p.Glu1111=) c.3258G= (p.Glu1086=) c.2208G= (p.Glu736=) c.2232G= (p.Glu744=) c.2283G= (p.Glu761=) c.2010G= (p.Glu670=) c.2334G= (p.Glu778=) c.2244G= (p.Glu748=) c.2235G= (p.Glu745=) | |
| 3 | g.123291182C>G | CA354223470 | ADCY5 | c.1935G>C (p.Glu645Asp) c.2223G>C (p.Glu741Asp) n.1661G>C c.3333G>C (p.Glu1111Asp) c.3258G>C (p.Glu1086Asp) c.2208G>C (p.Glu736Asp) c.2232G>C (p.Glu744Asp) c.2283G>C (p.Glu761Asp) c.2010G>C (p.Glu670Asp) c.2334G>C (p.Glu778Asp) c.2244G>C (p.Glu748Asp) c.2235G>C (p.Glu745Asp) | |
| 3 | g.123291182C>T | CA2576816 | ADCY5 | c.1935G>A (p.Glu645=) c.2223G>A (p.Glu741=) n.1661G>A c.3333G>A (p.Glu1111=) c.3258G>A (p.Glu1086=) c.2208G>A (p.Glu736=) c.2232G>A (p.Glu744=) c.2283G>A (p.Glu761=) c.2010G>A (p.Glu670=) c.2334G>A (p.Glu778=) c.2244G>A (p.Glu748=) c.2235G>A (p.Glu745=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.123291183T>A | CA354223471 | ADCY5 | c.1934A>T (p.Glu645Val) c.2222A>T (p.Glu741Val) n.1660A>T c.3332A>T (p.Glu1111Val) c.3257A>T (p.Glu1086Val) c.2207A>T (p.Glu736Val) c.2231A>T (p.Glu744Val) c.2282A>T (p.Glu761Val) c.2009A>T (p.Glu670Val) c.2333A>T (p.Glu778Val) c.2243A>T (p.Glu748Val) c.2234A>T (p.Glu745Val) | |
| 3 | g.123291183T>C | CA354223472 | ADCY5 | c.1934A>G (p.Glu645Gly) c.2222A>G (p.Glu741Gly) n.1660A>G c.3332A>G (p.Glu1111Gly) c.3257A>G (p.Glu1086Gly) c.2207A>G (p.Glu736Gly) c.2231A>G (p.Glu744Gly) c.2282A>G (p.Glu761Gly) c.2009A>G (p.Glu670Gly) c.2333A>G (p.Glu778Gly) c.2243A>G (p.Glu748Gly) c.2234A>G (p.Glu745Gly) | |
| 3 | g.123291183T>G | CA354223473 | ADCY5 | c.1934A>C (p.Glu645Ala) c.2222A>C (p.Glu741Ala) n.1660A>C c.3332A>C (p.Glu1111Ala) c.3257A>C (p.Glu1086Ala) c.2207A>C (p.Glu736Ala) c.2231A>C (p.Glu744Ala) c.2282A>C (p.Glu761Ala) c.2009A>C (p.Glu670Ala) c.2333A>C (p.Glu778Ala) c.2243A>C (p.Glu748Ala) c.2234A>C (p.Glu745Ala) | |
| 3 | g.123291184C>A | CA354223475 | ADCY5 | c.1933G>T (p.Glu645Ter) c.2221G>T (p.Glu741Ter) n.1659G>T c.3331G>T (p.Glu1111Ter) c.3256G>T (p.Glu1086Ter) c.2206G>T (p.Glu736Ter) c.2230G>T (p.Glu744Ter) c.2281G>T (p.Glu761Ter) c.2008G>T (p.Glu670Ter) c.2332G>T (p.Glu778Ter) c.2242G>T (p.Glu748Ter) c.2233G>T (p.Glu745Ter) | dbSNP |
| 3 | g.123291184C= | CA1398330384 | ADCY5 | c.1933G= (p.Glu645=) c.2221G= (p.Glu741=) n.1659G= c.3331G= (p.Glu1111=) c.3256G= (p.Glu1086=) c.2206G= (p.Glu736=) c.2230G= (p.Glu744=) c.2281G= (p.Glu761=) c.2008G= (p.Glu670=) c.2332G= (p.Glu778=) c.2242G= (p.Glu748=) c.2233G= (p.Glu745=) | |
| 3 | g.123291184C>G | CA354223476 | ADCY5 | c.1933G>C (p.Glu645Gln) c.2221G>C (p.Glu741Gln) n.1659G>C c.3331G>C (p.Glu1111Gln) c.3256G>C (p.Glu1086Gln) c.2206G>C (p.Glu736Gln) c.2230G>C (p.Glu744Gln) c.2281G>C (p.Glu761Gln) c.2008G>C (p.Glu670Gln) c.2332G>C (p.Glu778Gln) c.2242G>C (p.Glu748Gln) c.2233G>C (p.Glu745Gln) | |
| 3 | g.123291184C>T | CA354223474 | ADCY5 | c.1933G>A (p.Glu645Lys) c.2221G>A (p.Glu741Lys) n.1659G>A c.3331G>A (p.Glu1111Lys) c.3256G>A (p.Glu1086Lys) c.2206G>A (p.Glu736Lys) c.2230G>A (p.Glu744Lys) c.2281G>A (p.Glu761Lys) c.2008G>A (p.Glu670Lys) c.2332G>A (p.Glu778Lys) c.2242G>A (p.Glu748Lys) c.2233G>A (p.Glu745Lys) | |
| 3 | g.123291185A>C | CA435431360 | ADCY5 | c.1932T>G (p.Val644=) c.2220T>G (p.Val740=) n.1658T>G c.3330T>G (p.Val1110=) c.3255T>G (p.Val1085=) c.2205T>G (p.Val735=) c.2229T>G (p.Val743=) c.2280T>G (p.Val760=) c.2007T>G (p.Val669=) c.2331T>G (p.Val777=) c.2241T>G (p.Val747=) c.2232T>G (p.Val744=) | |
| 3 | g.123291185A>G | CA435431361 | ADCY5 | c.1932T>C (p.Val644=) c.2220T>C (p.Val740=) n.1658T>C c.3330T>C (p.Val1110=) c.3255T>C (p.Val1085=) c.2205T>C (p.Val735=) c.2229T>C (p.Val743=) c.2280T>C (p.Val760=) c.2007T>C (p.Val669=) c.2331T>C (p.Val777=) c.2241T>C (p.Val747=) c.2232T>C (p.Val744=) | |
| 3 | g.123291185A>T | CA435431362 | ADCY5 | c.1932T>A (p.Val644=) c.2220T>A (p.Val740=) n.1658T>A c.3330T>A (p.Val1110=) c.3255T>A (p.Val1085=) c.2205T>A (p.Val735=) c.2229T>A (p.Val743=) c.2280T>A (p.Val760=) c.2007T>A (p.Val669=) c.2331T>A (p.Val777=) c.2241T>A (p.Val747=) c.2232T>A (p.Val744=) | |
| 3 | g.123291186A>C | CA354223478 | ADCY5 | c.1931T>G (p.Val644Gly) c.2219T>G (p.Val740Gly) n.1657T>G c.3329T>G (p.Val1110Gly) c.3254T>G (p.Val1085Gly) c.2204T>G (p.Val735Gly) c.2228T>G (p.Val743Gly) c.2279T>G (p.Val760Gly) c.2006T>G (p.Val669Gly) c.2330T>G (p.Val777Gly) c.2240T>G (p.Val747Gly) c.2231T>G (p.Val744Gly) | |
| 3 | g.123291186A>G | CA354223477 | ADCY5 | c.1931T>C (p.Val644Ala) c.2219T>C (p.Val740Ala) n.1657T>C c.3329T>C (p.Val1110Ala) c.3254T>C (p.Val1085Ala) c.2204T>C (p.Val735Ala) c.2228T>C (p.Val743Ala) c.2279T>C (p.Val760Ala) c.2006T>C (p.Val669Ala) c.2330T>C (p.Val777Ala) c.2240T>C (p.Val747Ala) c.2231T>C (p.Val744Ala) | |
| 3 | g.123291186A>T | CA354223479 | ADCY5 | c.1931T>A (p.Val644Asp) c.2219T>A (p.Val740Asp) n.1657T>A c.3329T>A (p.Val1110Asp) c.3254T>A (p.Val1085Asp) c.2204T>A (p.Val735Asp) c.2228T>A (p.Val743Asp) c.2279T>A (p.Val760Asp) c.2006T>A (p.Val669Asp) c.2330T>A (p.Val777Asp) c.2240T>A (p.Val747Asp) c.2231T>A (p.Val744Asp) | |
| 3 | g.123291187C>A | CA354223480 | ADCY5 | c.1930G>T (p.Val644Phe) c.2218G>T (p.Val740Phe) n.1656G>T c.3328G>T (p.Val1110Phe) c.3253G>T (p.Val1085Phe) c.2203G>T (p.Val735Phe) c.2227G>T (p.Val743Phe) c.2278G>T (p.Val760Phe) c.2005G>T (p.Val669Phe) c.2329G>T (p.Val777Phe) c.2239G>T (p.Val747Phe) c.2230G>T (p.Val744Phe) | |
| 3 | g.123291187C= | CA1398330385 | ADCY5 | c.1930G= (p.Val644=) c.2218G= (p.Val740=) n.1656G= c.3328G= (p.Val1110=) c.3253G= (p.Val1085=) c.2203G= (p.Val735=) c.2227G= (p.Val743=) c.2278G= (p.Val760=) c.2005G= (p.Val669=) c.2329G= (p.Val777=) c.2239G= (p.Val747=) c.2230G= (p.Val744=) | |
| 3 | g.123291187C>G | CA354223481 | ADCY5 | c.1930G>C (p.Val644Leu) c.2218G>C (p.Val740Leu) n.1656G>C c.3328G>C (p.Val1110Leu) c.3253G>C (p.Val1085Leu) c.2203G>C (p.Val735Leu) c.2227G>C (p.Val743Leu) c.2278G>C (p.Val760Leu) c.2005G>C (p.Val669Leu) c.2329G>C (p.Val777Leu) c.2239G>C (p.Val747Leu) c.2230G>C (p.Val744Leu) | |
| 3 | g.123291187C>T | CA2576817 | ADCY5 | c.1930G>A (p.Val644Ile) c.2218G>A (p.Val740Ile) n.1656G>A c.3328G>A (p.Val1110Ile) c.3253G>A (p.Val1085Ile) c.2203G>A (p.Val735Ile) c.2227G>A (p.Val743Ile) c.2278G>A (p.Val760Ile) c.2005G>A (p.Val669Ile) c.2329G>A (p.Val777Ile) c.2239G>A (p.Val747Ile) c.2230G>A (p.Val744Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.123291188G>A | CA2576818 | ADCY5 | c.1929C>T (p.Tyr643=) c.2217C>T (p.Tyr739=) n.1655C>T c.3327C>T (p.Tyr1109=) c.3252C>T (p.Tyr1084=) c.2202C>T (p.Tyr734=) c.2226C>T (p.Tyr742=) c.2277C>T (p.Tyr759=) c.2004C>T (p.Tyr668=) c.2328C>T (p.Tyr776=) c.2238C>T (p.Tyr746=) c.2229C>T (p.Tyr743=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.123291188G>C | CA354223482 | ADCY5 | c.1929C>G (p.Tyr643Ter) c.2217C>G (p.Tyr739Ter) n.1655C>G c.3327C>G (p.Tyr1109Ter) c.3252C>G (p.Tyr1084Ter) c.2202C>G (p.Tyr734Ter) c.2226C>G (p.Tyr742Ter) c.2277C>G (p.Tyr759Ter) c.2004C>G (p.Tyr668Ter) c.2328C>G (p.Tyr776Ter) c.2238C>G (p.Tyr746Ter) c.2229C>G (p.Tyr743Ter) | |
| 3 | g.123291188G= | CA1398330386 | ADCY5 | c.1929C= (p.Tyr643=) c.2217C= (p.Tyr739=) n.1655C= c.3327C= (p.Tyr1109=) c.3252C= (p.Tyr1084=) c.2202C= (p.Tyr734=) c.2226C= (p.Tyr742=) c.2277C= (p.Tyr759=) c.2004C= (p.Tyr668=) c.2328C= (p.Tyr776=) c.2238C= (p.Tyr746=) c.2229C= (p.Tyr743=) | |
| 3 | g.123291188G>T | CA354223483 | ADCY5 | c.1929C>A (p.Tyr643Ter) c.2217C>A (p.Tyr739Ter) n.1655C>A c.3327C>A (p.Tyr1109Ter) c.3252C>A (p.Tyr1084Ter) c.2202C>A (p.Tyr734Ter) c.2226C>A (p.Tyr742Ter) c.2277C>A (p.Tyr759Ter) c.2004C>A (p.Tyr668Ter) c.2328C>A (p.Tyr776Ter) c.2238C>A (p.Tyr746Ter) c.2229C>A (p.Tyr743Ter) | |
| 3 | g.123291189T>A | CA354223486 | ADCY5 | c.1928A>T (p.Tyr643Phe) c.2216A>T (p.Tyr739Phe) n.1654A>T c.3326A>T (p.Tyr1109Phe) c.3251A>T (p.Tyr1084Phe) c.2201A>T (p.Tyr734Phe) c.2225A>T (p.Tyr742Phe) c.2276A>T (p.Tyr759Phe) c.2003A>T (p.Tyr668Phe) c.2327A>T (p.Tyr776Phe) c.2237A>T (p.Tyr746Phe) c.2228A>T (p.Tyr743Phe) | |
| 3 | g.123291189T>C | CA354223484 | ADCY5 | c.1928A>G (p.Tyr643Cys) c.2216A>G (p.Tyr739Cys) n.1654A>G c.3326A>G (p.Tyr1109Cys) c.3251A>G (p.Tyr1084Cys) c.2201A>G (p.Tyr734Cys) c.2225A>G (p.Tyr742Cys) c.2276A>G (p.Tyr759Cys) c.2003A>G (p.Tyr668Cys) c.2327A>G (p.Tyr776Cys) c.2237A>G (p.Tyr746Cys) c.2228A>G (p.Tyr743Cys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.123291189T>G | CA354223485 | ADCY5 | c.1928A>C (p.Tyr643Ser) c.2216A>C (p.Tyr739Ser) n.1654A>C c.3326A>C (p.Tyr1109Ser) c.3251A>C (p.Tyr1084Ser) c.2201A>C (p.Tyr734Ser) c.2225A>C (p.Tyr742Ser) c.2276A>C (p.Tyr759Ser) c.2003A>C (p.Tyr668Ser) c.2327A>C (p.Tyr776Ser) c.2237A>C (p.Tyr746Ser) c.2228A>C (p.Tyr743Ser) | |
| 3 | g.123291189T= | CA1398330387 | ADCY5 | c.1928A= (p.Tyr643=) c.2216A= (p.Tyr739=) n.1654A= c.3326A= (p.Tyr1109=) c.3251A= (p.Tyr1084=) c.2201A= (p.Tyr734=) c.2225A= (p.Tyr742=) c.2276A= (p.Tyr759=) c.2003A= (p.Tyr668=) c.2327A= (p.Tyr776=) c.2237A= (p.Tyr746=) c.2228A= (p.Tyr743=) | |
| 3 | g.123291190A>C | CA354223487 | ADCY5 | c.1927T>G (p.Tyr643Asp) c.2215T>G (p.Tyr739Asp) n.1653T>G c.3325T>G (p.Tyr1109Asp) c.3250T>G (p.Tyr1084Asp) c.2200T>G (p.Tyr734Asp) c.2224T>G (p.Tyr742Asp) c.2275T>G (p.Tyr759Asp) c.2002T>G (p.Tyr668Asp) c.2326T>G (p.Tyr776Asp) c.2236T>G (p.Tyr746Asp) c.2227T>G (p.Tyr743Asp) | |
| 3 | g.123291190A>G | CA354223488 | ADCY5 | c.1927T>C (p.Tyr643His) c.2215T>C (p.Tyr739His) n.1653T>C c.3325T>C (p.Tyr1109His) c.3250T>C (p.Tyr1084His) c.2200T>C (p.Tyr734His) c.2224T>C (p.Tyr742His) c.2275T>C (p.Tyr759His) c.2002T>C (p.Tyr668His) c.2326T>C (p.Tyr776His) c.2236T>C (p.Tyr746His) c.2227T>C (p.Tyr743His) | |
| 3 | g.123291190A>T | CA354223489 | ADCY5 | c.1927T>A (p.Tyr643Asn) c.2215T>A (p.Tyr739Asn) n.1653T>A c.3325T>A (p.Tyr1109Asn) c.3250T>A (p.Tyr1084Asn) c.2200T>A (p.Tyr734Asn) c.2224T>A (p.Tyr742Asn) c.2275T>A (p.Tyr759Asn) c.2002T>A (p.Tyr668Asn) c.2326T>A (p.Tyr776Asn) c.2236T>A (p.Tyr746Asn) c.2227T>A (p.Tyr743Asn) | |
| 3 | g.123291191G>A | CA435431365 | ADCY5 | c.1926C>T (p.Phe642=) c.2214C>T (p.Phe738=) n.1652C>T c.3324C>T (p.Phe1108=) c.3249C>T (p.Phe1083=) c.2199C>T (p.Phe733=) c.2223C>T (p.Phe741=) c.2274C>T (p.Phe758=) c.2001C>T (p.Phe667=) c.2325C>T (p.Phe775=) c.2235C>T (p.Phe745=) c.2226C>T (p.Phe742=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.123291191G>C | CA354223490 | ADCY5 | c.1926C>G (p.Phe642Leu) c.2214C>G (p.Phe738Leu) n.1652C>G c.3324C>G (p.Phe1108Leu) c.3249C>G (p.Phe1083Leu) c.2199C>G (p.Phe733Leu) c.2223C>G (p.Phe741Leu) c.2274C>G (p.Phe758Leu) c.2001C>G (p.Phe667Leu) c.2325C>G (p.Phe775Leu) c.2235C>G (p.Phe745Leu) c.2226C>G (p.Phe742Leu) | |
| 3 | g.123291191G= | CA1398330388 | ADCY5 | c.1926C= (p.Phe642=) c.2214C= (p.Phe738=) n.1652C= c.3324C= (p.Phe1108=) c.3249C= (p.Phe1083=) c.2199C= (p.Phe733=) c.2223C= (p.Phe741=) c.2274C= (p.Phe758=) c.2001C= (p.Phe667=) c.2325C= (p.Phe775=) c.2235C= (p.Phe745=) c.2226C= (p.Phe742=) | |
| 3 | g.123291191G>T | CA354223491 | ADCY5 | c.1926C>A (p.Phe642Leu) c.2214C>A (p.Phe738Leu) n.1652C>A c.3324C>A (p.Phe1108Leu) c.3249C>A (p.Phe1083Leu) c.2199C>A (p.Phe733Leu) c.2223C>A (p.Phe741Leu) c.2274C>A (p.Phe758Leu) c.2001C>A (p.Phe667Leu) c.2325C>A (p.Phe775Leu) c.2235C>A (p.Phe745Leu) c.2226C>A (p.Phe742Leu) | |
| 3 | g.123291192A>C | CA354223492 | ADCY5 | c.1925T>G (p.Phe642Cys) c.2213T>G (p.Phe738Cys) n.1651T>G c.3323T>G (p.Phe1108Cys) c.3248T>G (p.Phe1083Cys) c.2198T>G (p.Phe733Cys) c.2222T>G (p.Phe741Cys) c.2273T>G (p.Phe758Cys) c.2000T>G (p.Phe667Cys) c.2324T>G (p.Phe775Cys) c.2234T>G (p.Phe745Cys) c.2225T>G (p.Phe742Cys) | |
| 3 | g.123291192A>G | CA354223494 | ADCY5 | c.1925T>C (p.Phe642Ser) c.2213T>C (p.Phe738Ser) n.1651T>C c.3323T>C (p.Phe1108Ser) c.3248T>C (p.Phe1083Ser) c.2198T>C (p.Phe733Ser) c.2222T>C (p.Phe741Ser) c.2273T>C (p.Phe758Ser) c.2000T>C (p.Phe667Ser) c.2324T>C (p.Phe775Ser) c.2234T>C (p.Phe745Ser) c.2225T>C (p.Phe742Ser) | |
| 3 | g.123291192A>T | CA354223493 | ADCY5 | c.1925T>A (p.Phe642Tyr) c.2213T>A (p.Phe738Tyr) n.1651T>A c.3323T>A (p.Phe1108Tyr) c.3248T>A (p.Phe1083Tyr) c.2198T>A (p.Phe733Tyr) c.2222T>A (p.Phe741Tyr) c.2273T>A (p.Phe758Tyr) c.2000T>A (p.Phe667Tyr) c.2324T>A (p.Phe775Tyr) c.2234T>A (p.Phe745Tyr) c.2225T>A (p.Phe742Tyr) | |
| 3 | g.123291193A>C | CA354223495 | ADCY5 | c.1924T>G (p.Phe642Val) c.2212T>G (p.Phe738Val) n.1650T>G c.3322T>G (p.Phe1108Val) c.3247T>G (p.Phe1083Val) c.2197T>G (p.Phe733Val) c.2221T>G (p.Phe741Val) c.2272T>G (p.Phe758Val) c.1999T>G (p.Phe667Val) c.2323T>G (p.Phe775Val) c.2233T>G (p.Phe745Val) c.2224T>G (p.Phe742Val) | |
| 3 | g.123291193A>G | CA354223496 | ADCY5 | c.1924T>C (p.Phe642Leu) c.2212T>C (p.Phe738Leu) n.1650T>C c.3322T>C (p.Phe1108Leu) c.3247T>C (p.Phe1083Leu) c.2197T>C (p.Phe733Leu) c.2221T>C (p.Phe741Leu) c.2272T>C (p.Phe758Leu) c.1999T>C (p.Phe667Leu) c.2323T>C (p.Phe775Leu) c.2233T>C (p.Phe745Leu) c.2224T>C (p.Phe742Leu) | |
| 3 | g.123291193A>T | CA354223497 | ADCY5 | c.1924T>A (p.Phe642Ile) c.2212T>A (p.Phe738Ile) n.1650T>A c.3322T>A (p.Phe1108Ile) c.3247T>A (p.Phe1083Ile) c.2197T>A (p.Phe733Ile) c.2221T>A (p.Phe741Ile) c.2272T>A (p.Phe758Ile) c.1999T>A (p.Phe667Ile) c.2323T>A (p.Phe775Ile) c.2233T>A (p.Phe745Ile) c.2224T>A (p.Phe742Ile) | |
| 3 | g.123291194C>A | CA354223498 | ADCY5 | c.1923G>T (p.Glu641Asp) c.2211G>T (p.Glu737Asp) n.1649G>T c.3321G>T (p.Glu1107Asp) c.3246G>T (p.Glu1082Asp) c.2196G>T (p.Glu732Asp) c.2220G>T (p.Glu740Asp) c.2271G>T (p.Glu757Asp) c.1998G>T (p.Glu666Asp) c.2322G>T (p.Glu774Asp) c.2232G>T (p.Glu744Asp) c.2223G>T (p.Glu741Asp) | |
| 3 | g.123291194C>G | CA354223499 | ADCY5 | c.1923G>C (p.Glu641Asp) c.2211G>C (p.Glu737Asp) n.1649G>C c.3321G>C (p.Glu1107Asp) c.3246G>C (p.Glu1082Asp) c.2196G>C (p.Glu732Asp) c.2220G>C (p.Glu740Asp) c.2271G>C (p.Glu757Asp) c.1998G>C (p.Glu666Asp) c.2322G>C (p.Glu774Asp) c.2232G>C (p.Glu744Asp) c.2223G>C (p.Glu741Asp) | |
| 3 | g.123291194C>T | CA435431367 | ADCY5 | c.1923G>A (p.Glu641=) c.2211G>A (p.Glu737=) n.1649G>A c.3321G>A (p.Glu1107=) c.3246G>A (p.Glu1082=) c.2196G>A (p.Glu732=) c.2220G>A (p.Glu740=) c.2271G>A (p.Glu757=) c.1998G>A (p.Glu666=) c.2322G>A (p.Glu774=) c.2232G>A (p.Glu744=) c.2223G>A (p.Glu741=) | |
| 3 | g.123291195T>A | CA354223500 | ADCY5 | c.1922A>T (p.Glu641Val) c.2210A>T (p.Glu737Val) n.1648A>T c.3320A>T (p.Glu1107Val) c.3245A>T (p.Glu1082Val) c.2195A>T (p.Glu732Val) c.2219A>T (p.Glu740Val) c.2270A>T (p.Glu757Val) c.1997A>T (p.Glu666Val) c.2321A>T (p.Glu774Val) c.2231A>T (p.Glu744Val) c.2222A>T (p.Glu741Val) | |
| 3 | g.123291195T>C | CA354223501 | ADCY5 | c.1922A>G (p.Glu641Gly) c.2210A>G (p.Glu737Gly) n.1648A>G c.3320A>G (p.Glu1107Gly) c.3245A>G (p.Glu1082Gly) c.2195A>G (p.Glu732Gly) c.2219A>G (p.Glu740Gly) c.2270A>G (p.Glu757Gly) c.1997A>G (p.Glu666Gly) c.2321A>G (p.Glu774Gly) c.2231A>G (p.Glu744Gly) c.2222A>G (p.Glu741Gly) | COSMIC |
| 3 | g.123291195T>G | CA354223502 | ADCY5 | c.1922A>C (p.Glu641Ala) c.2210A>C (p.Glu737Ala) n.1648A>C c.3320A>C (p.Glu1107Ala) c.3245A>C (p.Glu1082Ala) c.2195A>C (p.Glu732Ala) c.2219A>C (p.Glu740Ala) c.2270A>C (p.Glu757Ala) c.1997A>C (p.Glu666Ala) c.2321A>C (p.Glu774Ala) c.2231A>C (p.Glu744Ala) c.2222A>C (p.Glu741Ala) | |
| 3 | g.123291196C>A | CA354223503 | ADCY5 | c.1921G>T (p.Glu641Ter) c.2209G>T (p.Glu737Ter) n.1647G>T c.3319G>T (p.Glu1107Ter) c.3244G>T (p.Glu1082Ter) c.2194G>T (p.Glu732Ter) c.2218G>T (p.Glu740Ter) c.2269G>T (p.Glu757Ter) c.1996G>T (p.Glu666Ter) c.2320G>T (p.Glu774Ter) c.2230G>T (p.Glu744Ter) c.2221G>T (p.Glu741Ter) | dbSNP |
| 3 | g.123291196C= | CA1398330389 | ADCY5 | c.1921G= (p.Glu641=) c.2209G= (p.Glu737=) n.1647G= c.3319G= (p.Glu1107=) c.3244G= (p.Glu1082=) c.2194G= (p.Glu732=) c.2218G= (p.Glu740=) c.2269G= (p.Glu757=) c.1996G= (p.Glu666=) c.2320G= (p.Glu774=) c.2230G= (p.Glu744=) c.2221G= (p.Glu741=) | |
| 3 | g.123291196C>G | CA354223504 | ADCY5 | c.1921G>C (p.Glu641Gln) c.2209G>C (p.Glu737Gln) n.1647G>C c.3319G>C (p.Glu1107Gln) c.3244G>C (p.Glu1082Gln) c.2194G>C (p.Glu732Gln) c.2218G>C (p.Glu740Gln) c.2269G>C (p.Glu757Gln) c.1996G>C (p.Glu666Gln) c.2320G>C (p.Glu774Gln) c.2230G>C (p.Glu744Gln) c.2221G>C (p.Glu741Gln) | |
| 3 | g.123291196C>T | CA2576819 | ADCY5 | c.1921G>A (p.Glu641Lys) c.2209G>A (p.Glu737Lys) n.1647G>A c.3319G>A (p.Glu1107Lys) c.3244G>A (p.Glu1082Lys) c.2194G>A (p.Glu732Lys) c.2218G>A (p.Glu740Lys) c.2269G>A (p.Glu757Lys) c.1996G>A (p.Glu666Lys) c.2320G>A (p.Glu774Lys) c.2230G>A (p.Glu744Lys) c.2221G>A (p.Glu741Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.123291197G>A | CA2576820 | ADCY5 | c.1920C>T (p.Ser640=) c.2208C>T (p.Ser736=) n.1646C>T c.3318C>T (p.Ser1106=) c.3243C>T (p.Ser1081=) c.2193C>T (p.Ser731=) c.2217C>T (p.Ser739=) c.2268C>T (p.Ser756=) c.1995C>T (p.Ser665=) c.2319C>T (p.Ser773=) c.2229C>T (p.Ser743=) c.2220C>T (p.Ser740=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.123291197G>C | CA435431370 | ADCY5 | c.1920C>G (p.Ser640=) c.2208C>G (p.Ser736=) n.1646C>G c.3318C>G (p.Ser1106=) c.3243C>G (p.Ser1081=) c.2193C>G (p.Ser731=) c.2217C>G (p.Ser739=) c.2268C>G (p.Ser756=) c.1995C>G (p.Ser665=) c.2319C>G (p.Ser773=) c.2229C>G (p.Ser743=) c.2220C>G (p.Ser740=) | |
| 3 | g.123291197G= | CA1398330390 | ADCY5 | c.1920C= (p.Ser640=) c.2208C= (p.Ser736=) n.1646C= c.3318C= (p.Ser1106=) c.3243C= (p.Ser1081=) c.2193C= (p.Ser731=) c.2217C= (p.Ser739=) c.2268C= (p.Ser756=) c.1995C= (p.Ser665=) c.2319C= (p.Ser773=) c.2229C= (p.Ser743=) c.2220C= (p.Ser740=) | |
| 3 | g.123291197G>T | CA435431369 | ADCY5 | c.1920C>A (p.Ser640=) c.2208C>A (p.Ser736=) n.1646C>A c.3318C>A (p.Ser1106=) c.3243C>A (p.Ser1081=) c.2193C>A (p.Ser731=) c.2217C>A (p.Ser739=) c.2268C>A (p.Ser756=) c.1995C>A (p.Ser665=) c.2319C>A (p.Ser773=) c.2229C>A (p.Ser743=) c.2220C>A (p.Ser740=) | |
| 3 | g.123291198G>A | CA354223507 | ADCY5 | c.1919C>T (p.Ser640Phe) c.2207C>T (p.Ser736Phe) n.1645C>T c.3317C>T (p.Ser1106Phe) c.3242C>T (p.Ser1081Phe) c.2192C>T (p.Ser731Phe) c.2216C>T (p.Ser739Phe) c.2267C>T (p.Ser756Phe) c.1994C>T (p.Ser665Phe) c.2318C>T (p.Ser773Phe) c.2228C>T (p.Ser743Phe) c.2219C>T (p.Ser740Phe) | ClinVar dbSNP gnomAD v4 |
| 3 | g.123291198G>C | CA354223505 | ADCY5 | c.1919C>G (p.Ser640Cys) c.2207C>G (p.Ser736Cys) n.1645C>G c.3317C>G (p.Ser1106Cys) c.3242C>G (p.Ser1081Cys) c.2192C>G (p.Ser731Cys) c.2216C>G (p.Ser739Cys) c.2267C>G (p.Ser756Cys) c.1994C>G (p.Ser665Cys) c.2318C>G (p.Ser773Cys) c.2228C>G (p.Ser743Cys) c.2219C>G (p.Ser740Cys) | |
| 3 | g.123291198G= | CA1398330391 | ADCY5 | c.1919C= (p.Ser640=) c.2207C= (p.Ser736=) n.1645C= c.3317C= (p.Ser1106=) c.3242C= (p.Ser1081=) c.2192C= (p.Ser731=) c.2216C= (p.Ser739=) c.2267C= (p.Ser756=) c.1994C= (p.Ser665=) c.2318C= (p.Ser773=) c.2228C= (p.Ser743=) c.2219C= (p.Ser740=) | |
| 3 | g.123291198G>T | CA354223506 | ADCY5 | c.1919C>A (p.Ser640Tyr) c.2207C>A (p.Ser736Tyr) n.1645C>A c.3317C>A (p.Ser1106Tyr) c.3242C>A (p.Ser1081Tyr) c.2192C>A (p.Ser731Tyr) c.2216C>A (p.Ser739Tyr) c.2267C>A (p.Ser756Tyr) c.1994C>A (p.Ser665Tyr) c.2318C>A (p.Ser773Tyr) c.2228C>A (p.Ser743Tyr) c.2219C>A (p.Ser740Tyr) | |
| 3 | g.123291199A>C | CA354223508 | ADCY5 | c.1918T>G (p.Ser640Ala) c.2206T>G (p.Ser736Ala) n.1644T>G c.3316T>G (p.Ser1106Ala) c.3241T>G (p.Ser1081Ala) c.2191T>G (p.Ser731Ala) c.2215T>G (p.Ser739Ala) c.2266T>G (p.Ser756Ala) c.1993T>G (p.Ser665Ala) c.2317T>G (p.Ser773Ala) c.2227T>G (p.Ser743Ala) c.2218T>G (p.Ser740Ala) | |
| 3 | g.123291199A>G | CA354223509 | ADCY5 | c.1918T>C (p.Ser640Pro) c.2206T>C (p.Ser736Pro) n.1644T>C c.3316T>C (p.Ser1106Pro) c.3241T>C (p.Ser1081Pro) c.2191T>C (p.Ser731Pro) c.2215T>C (p.Ser739Pro) c.2266T>C (p.Ser756Pro) c.1993T>C (p.Ser665Pro) c.2317T>C (p.Ser773Pro) c.2227T>C (p.Ser743Pro) c.2218T>C (p.Ser740Pro) | |
| 3 | g.123291199A>T | CA354223510 | ADCY5 | c.1918T>A (p.Ser640Thr) c.2206T>A (p.Ser736Thr) n.1644T>A c.3316T>A (p.Ser1106Thr) c.3241T>A (p.Ser1081Thr) c.2191T>A (p.Ser731Thr) c.2215T>A (p.Ser739Thr) c.2266T>A (p.Ser756Thr) c.1993T>A (p.Ser665Thr) c.2317T>A (p.Ser773Thr) c.2227T>A (p.Ser743Thr) c.2218T>A (p.Ser740Thr) | |
| 3 | g.123291200G>A | CA435431373 | ADCY5 | c.1917C>T (p.Phe639=) c.2205C>T (p.Phe735=) n.1643C>T c.3315C>T (p.Phe1105=) c.3240C>T (p.Phe1080=) c.2190C>T (p.Phe730=) c.2214C>T (p.Phe738=) c.2265C>T (p.Phe755=) c.1992C>T (p.Phe664=) c.2316C>T (p.Phe772=) c.2226C>T (p.Phe742=) c.2217C>T (p.Phe739=) | COSMIC |
| 3 | g.123291200G>C | CA354223511 | ADCY5 | c.1917C>G (p.Phe639Leu) c.2205C>G (p.Phe735Leu) n.1643C>G c.3315C>G (p.Phe1105Leu) c.3240C>G (p.Phe1080Leu) c.2190C>G (p.Phe730Leu) c.2214C>G (p.Phe738Leu) c.2265C>G (p.Phe755Leu) c.1992C>G (p.Phe664Leu) c.2316C>G (p.Phe772Leu) c.2226C>G (p.Phe742Leu) c.2217C>G (p.Phe739Leu) | |
| 3 | g.123291200G>T | CA354223512 | ADCY5 | c.1917C>A (p.Phe639Leu) c.2205C>A (p.Phe735Leu) n.1643C>A c.3315C>A (p.Phe1105Leu) c.3240C>A (p.Phe1080Leu) c.2190C>A (p.Phe730Leu) c.2214C>A (p.Phe738Leu) c.2265C>A (p.Phe755Leu) c.1992C>A (p.Phe664Leu) c.2316C>A (p.Phe772Leu) c.2226C>A (p.Phe742Leu) c.2217C>A (p.Phe739Leu) | |
| 3 | g.123291201A>C | CA354223513 | ADCY5 | c.1916T>G (p.Phe639Cys) c.2204T>G (p.Phe735Cys) n.1642T>G c.3314T>G (p.Phe1105Cys) c.3239T>G (p.Phe1080Cys) c.2189T>G (p.Phe730Cys) c.2213T>G (p.Phe738Cys) c.2264T>G (p.Phe755Cys) c.1991T>G (p.Phe664Cys) c.2315T>G (p.Phe772Cys) c.2225T>G (p.Phe742Cys) c.2216T>G (p.Phe739Cys) | |
| 3 | g.123291201A>G | CA354223514 | ADCY5 | c.1916T>C (p.Phe639Ser) c.2204T>C (p.Phe735Ser) n.1642T>C c.3314T>C (p.Phe1105Ser) c.3239T>C (p.Phe1080Ser) c.2189T>C (p.Phe730Ser) c.2213T>C (p.Phe738Ser) c.2264T>C (p.Phe755Ser) c.1991T>C (p.Phe664Ser) c.2315T>C (p.Phe772Ser) c.2225T>C (p.Phe742Ser) c.2216T>C (p.Phe739Ser) | |
| 3 | g.123291201A>T | CA354223515 | ADCY5 | c.1916T>A (p.Phe639Tyr) c.2204T>A (p.Phe735Tyr) n.1642T>A c.3314T>A (p.Phe1105Tyr) c.3239T>A (p.Phe1080Tyr) c.2189T>A (p.Phe730Tyr) c.2213T>A (p.Phe738Tyr) c.2264T>A (p.Phe755Tyr) c.1991T>A (p.Phe664Tyr) c.2315T>A (p.Phe772Tyr) c.2225T>A (p.Phe742Tyr) c.2216T>A (p.Phe739Tyr) | |
| 3 | g.123291202A>C | CA354223516 | ADCY5 | c.1915T>G (p.Phe639Val) c.2203T>G (p.Phe735Val) n.1641T>G c.3313T>G (p.Phe1105Val) c.3238T>G (p.Phe1080Val) c.2188T>G (p.Phe730Val) c.2212T>G (p.Phe738Val) c.2263T>G (p.Phe755Val) c.1990T>G (p.Phe664Val) c.2314T>G (p.Phe772Val) c.2224T>G (p.Phe742Val) c.2215T>G (p.Phe739Val) | |
| 3 | g.123291202A>G | CA354223517 | ADCY5 | c.1915T>C (p.Phe639Leu) c.2203T>C (p.Phe735Leu) n.1641T>C c.3313T>C (p.Phe1105Leu) c.3238T>C (p.Phe1080Leu) c.2188T>C (p.Phe730Leu) c.2212T>C (p.Phe738Leu) c.2263T>C (p.Phe755Leu) c.1990T>C (p.Phe664Leu) c.2314T>C (p.Phe772Leu) c.2224T>C (p.Phe742Leu) c.2215T>C (p.Phe739Leu) | |
| 3 | g.123291202A>T | CA354223518 | ADCY5 | c.1915T>A (p.Phe639Ile) c.2203T>A (p.Phe735Ile) n.1641T>A c.3313T>A (p.Phe1105Ile) c.3238T>A (p.Phe1080Ile) c.2188T>A (p.Phe730Ile) c.2212T>A (p.Phe738Ile) c.2263T>A (p.Phe755Ile) c.1990T>A (p.Phe664Ile) c.2314T>A (p.Phe772Ile) c.2224T>A (p.Phe742Ile) c.2215T>A (p.Phe739Ile) | |
| 3 | g.123291203G>A | CA435431378 | ADCY5 | c.1914C>T (p.Asn638=) c.2202C>T (p.Asn734=) n.1640C>T c.3312C>T (p.Asn1104=) c.3237C>T (p.Asn1079=) c.2187C>T (p.Asn729=) c.2211C>T (p.Asn737=) c.2262C>T (p.Asn754=) c.1989C>T (p.Asn663=) c.2313C>T (p.Asn771=) c.2223C>T (p.Asn741=) c.2214C>T (p.Asn738=) | COSMIC |
| 3 | g.123291203G>C | CA354223520 | ADCY5 | c.1914C>G (p.Asn638Lys) c.2202C>G (p.Asn734Lys) n.1640C>G c.3312C>G (p.Asn1104Lys) c.3237C>G (p.Asn1079Lys) c.2187C>G (p.Asn729Lys) c.2211C>G (p.Asn737Lys) c.2262C>G (p.Asn754Lys) c.1989C>G (p.Asn663Lys) c.2313C>G (p.Asn771Lys) c.2223C>G (p.Asn741Lys) c.2214C>G (p.Asn738Lys) | gnomAD v4 |
| 3 | g.123291203G>T | CA354223519 | ADCY5 | c.1914C>A (p.Asn638Lys) c.2202C>A (p.Asn734Lys) n.1640C>A c.3312C>A (p.Asn1104Lys) c.3237C>A (p.Asn1079Lys) c.2187C>A (p.Asn729Lys) c.2211C>A (p.Asn737Lys) c.2262C>A (p.Asn754Lys) c.1989C>A (p.Asn663Lys) c.2313C>A (p.Asn771Lys) c.2223C>A (p.Asn741Lys) c.2214C>A (p.Asn738Lys) | COSMIC |
| 3 | g.123291204T>A | CA354223521 | ADCY5 | c.1913A>T (p.Asn638Ile) c.2201A>T (p.Asn734Ile) n.1639A>T c.3311A>T (p.Asn1104Ile) c.3236A>T (p.Asn1079Ile) c.2186A>T (p.Asn729Ile) c.2210A>T (p.Asn737Ile) c.2261A>T (p.Asn754Ile) c.1988A>T (p.Asn663Ile) c.2312A>T (p.Asn771Ile) c.2222A>T (p.Asn741Ile) c.2213A>T (p.Asn738Ile) | |
| 3 | g.123291204T>C | CA2576821 | ADCY5 | c.1913A>G (p.Asn638Ser) c.2201A>G (p.Asn734Ser) n.1639A>G c.3311A>G (p.Asn1104Ser) c.3236A>G (p.Asn1079Ser) c.2186A>G (p.Asn729Ser) c.2210A>G (p.Asn737Ser) c.2261A>G (p.Asn754Ser) c.1988A>G (p.Asn663Ser) c.2312A>G (p.Asn771Ser) c.2222A>G (p.Asn741Ser) c.2213A>G (p.Asn738Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.123291204T>G | CA354223522 | ADCY5 | c.1913A>C (p.Asn638Thr) c.2201A>C (p.Asn734Thr) n.1639A>C c.3311A>C (p.Asn1104Thr) c.3236A>C (p.Asn1079Thr) c.2186A>C (p.Asn729Thr) c.2210A>C (p.Asn737Thr) c.2261A>C (p.Asn754Thr) c.1988A>C (p.Asn663Thr) c.2312A>C (p.Asn771Thr) c.2222A>C (p.Asn741Thr) c.2213A>C (p.Asn738Thr) | |
| 3 | g.123291204T= | CA1398330392 | ADCY5 | c.1913A= (p.Asn638=) c.2201A= (p.Asn734=) n.1639A= c.3311A= (p.Asn1104=) c.3236A= (p.Asn1079=) c.2186A= (p.Asn729=) c.2210A= (p.Asn737=) c.2261A= (p.Asn754=) c.1988A= (p.Asn663=) c.2312A= (p.Asn771=) c.2222A= (p.Asn741=) c.2213A= (p.Asn738=) | |
| 3 | g.123291205T>A | CA354223523 | ADCY5 | c.1912A>T (p.Asn638Tyr) c.2200A>T (p.Asn734Tyr) n.1638A>T c.3310A>T (p.Asn1104Tyr) c.3235A>T (p.Asn1079Tyr) c.2185A>T (p.Asn729Tyr) c.2209A>T (p.Asn737Tyr) c.2260A>T (p.Asn754Tyr) c.1987A>T (p.Asn663Tyr) c.2311A>T (p.Asn771Tyr) c.2221A>T (p.Asn741Tyr) c.2212A>T (p.Asn738Tyr) | |
| 3 | g.123291205T>C | CA354223524 | ADCY5 | c.1912A>G (p.Asn638Asp) c.2200A>G (p.Asn734Asp) n.1638A>G c.3310A>G (p.Asn1104Asp) c.3235A>G (p.Asn1079Asp) c.2185A>G (p.Asn729Asp) c.2209A>G (p.Asn737Asp) c.2260A>G (p.Asn754Asp) c.1987A>G (p.Asn663Asp) c.2311A>G (p.Asn771Asp) c.2221A>G (p.Asn741Asp) c.2212A>G (p.Asn738Asp) | |
| 3 | g.123291205T>G | CA354223525 | ADCY5 | c.1912A>C (p.Asn638His) c.2200A>C (p.Asn734His) n.1638A>C c.3310A>C (p.Asn1104His) c.3235A>C (p.Asn1079His) c.2185A>C (p.Asn729His) c.2209A>C (p.Asn737His) c.2260A>C (p.Asn754His) c.1987A>C (p.Asn663His) c.2311A>C (p.Asn771His) c.2221A>C (p.Asn741His) c.2212A>C (p.Asn738His) |