Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.77520826C>A | CA256039 | ATRX | c.7162G>T (p.Glu2388Ter) c.2260G>T (p.Glu754Ter) c.7048G>T (p.Glu2350Ter) c.*6790G>T (n.*6790G>T) n.5482G>T n.393G>T c.7159G>T (p.Glu2387Ter) c.7075G>T (p.Glu2359Ter) c.7045G>T (p.Glu2349Ter) c.6997G>T (p.Glu2333Ter) c.6958G>T (p.Glu2320Ter) c.6883G>T (p.Glu2295Ter) n.8754G>T c.7072G>T (p.Glu2358Ter) c.7042G>T (p.Glu2348Ter) c.6994G>T (p.Glu2332Ter) c.6961G>T (p.Glu2321Ter) c.6931G>T (p.Glu2311Ter) c.6928G>T (p.Glu2310Ter) c.6880G>T (p.Glu2294Ter) c.6844G>T (p.Glu2282Ter) c.6841G>T (p.Glu2281Ter) c.6796G>T (p.Glu2266Ter) n.7461G>T | ClinVar dbSNP |
X | g.77520826C= | CA2438933060 | ATRX | c.7162G= (p.Glu2388=) c.2260G= (p.Glu754=) c.7048G= (p.Glu2350=) c.*6790G= (n.*6790G=) n.5482G= n.393G= c.7159G= (p.Glu2387=) c.7075G= (p.Glu2359=) c.7045G= (p.Glu2349=) c.6997G= (p.Glu2333=) c.6958G= (p.Glu2320=) c.6883G= (p.Glu2295=) n.8754G= c.7072G= (p.Glu2358=) c.7042G= (p.Glu2348=) c.6994G= (p.Glu2332=) c.6961G= (p.Glu2321=) c.6931G= (p.Glu2311=) c.6928G= (p.Glu2310=) c.6880G= (p.Glu2294=) c.6844G= (p.Glu2282=) c.6841G= (p.Glu2281=) c.6796G= (p.Glu2266=) n.7461G= | |
X | g.77520826C>G | CA413707089 | ATRX | c.7162G>C (p.Glu2388Gln) c.2260G>C (p.Glu754Gln) c.7048G>C (p.Glu2350Gln) c.*6790G>C (n.*6790G>C) n.5482G>C n.393G>C c.7159G>C (p.Glu2387Gln) c.7075G>C (p.Glu2359Gln) c.7045G>C (p.Glu2349Gln) c.6997G>C (p.Glu2333Gln) c.6958G>C (p.Glu2320Gln) c.6883G>C (p.Glu2295Gln) n.8754G>C c.7072G>C (p.Glu2358Gln) c.7042G>C (p.Glu2348Gln) c.6994G>C (p.Glu2332Gln) c.6961G>C (p.Glu2321Gln) c.6931G>C (p.Glu2311Gln) c.6928G>C (p.Glu2310Gln) c.6880G>C (p.Glu2294Gln) c.6844G>C (p.Glu2282Gln) c.6841G>C (p.Glu2281Gln) c.6796G>C (p.Glu2266Gln) n.7461G>C | |
X | g.77520826C>T | CA413707090 | ATRX | c.7162G>A (p.Glu2388Lys) c.2260G>A (p.Glu754Lys) c.7048G>A (p.Glu2350Lys) c.*6790G>A (n.*6790G>A) n.5482G>A n.393G>A c.7159G>A (p.Glu2387Lys) c.7075G>A (p.Glu2359Lys) c.7045G>A (p.Glu2349Lys) c.6997G>A (p.Glu2333Lys) c.6958G>A (p.Glu2320Lys) c.6883G>A (p.Glu2295Lys) n.8754G>A c.7072G>A (p.Glu2358Lys) c.7042G>A (p.Glu2348Lys) c.6994G>A (p.Glu2332Lys) c.6961G>A (p.Glu2321Lys) c.6931G>A (p.Glu2311Lys) c.6928G>A (p.Glu2310Lys) c.6880G>A (p.Glu2294Lys) c.6844G>A (p.Glu2282Lys) c.6841G>A (p.Glu2281Lys) c.6796G>A (p.Glu2266Lys) n.7461G>A | |
X | g.77520827T>A | CA413707091 | ATRX | c.7161A>T (p.Arg2387Ser) c.2259A>T (p.Arg753Ser) c.7047A>T (p.Arg2349Ser) c.*6789A>T (n.*6789A>T) n.5481A>T n.392A>T c.7158A>T (p.Arg2386Ser) c.7074A>T (p.Arg2358Ser) c.7044A>T (p.Arg2348Ser) c.6996A>T (p.Arg2332Ser) c.6957A>T (p.Arg2319Ser) c.6882A>T (p.Arg2294Ser) n.8753A>T c.7071A>T (p.Arg2357Ser) c.7041A>T (p.Arg2347Ser) c.6993A>T (p.Arg2331Ser) c.6960A>T (p.Arg2320Ser) c.6930A>T (p.Arg2310Ser) c.6927A>T (p.Arg2309Ser) c.6879A>T (p.Arg2293Ser) c.6843A>T (p.Arg2281Ser) c.6840A>T (p.Arg2280Ser) c.6795A>T (p.Arg2265Ser) n.7460A>T | |
X | g.77520827T>C | CA517374382 | ATRX | c.7161A>G (p.Arg2387=) c.2259A>G (p.Arg753=) c.7047A>G (p.Arg2349=) c.*6789A>G (n.*6789A>G) n.5481A>G n.392A>G c.7158A>G (p.Arg2386=) c.7074A>G (p.Arg2358=) c.7044A>G (p.Arg2348=) c.6996A>G (p.Arg2332=) c.6957A>G (p.Arg2319=) c.6882A>G (p.Arg2294=) n.8753A>G c.7071A>G (p.Arg2357=) c.7041A>G (p.Arg2347=) c.6993A>G (p.Arg2331=) c.6960A>G (p.Arg2320=) c.6930A>G (p.Arg2310=) c.6927A>G (p.Arg2309=) c.6879A>G (p.Arg2293=) c.6843A>G (p.Arg2281=) c.6840A>G (p.Arg2280=) c.6795A>G (p.Arg2265=) n.7460A>G | |
X | g.77520827T>G | CA413707092 | ATRX | c.7161A>C (p.Arg2387Ser) c.2259A>C (p.Arg753Ser) c.7047A>C (p.Arg2349Ser) c.*6789A>C (n.*6789A>C) n.5481A>C n.392A>C c.7158A>C (p.Arg2386Ser) c.7074A>C (p.Arg2358Ser) c.7044A>C (p.Arg2348Ser) c.6996A>C (p.Arg2332Ser) c.6957A>C (p.Arg2319Ser) c.6882A>C (p.Arg2294Ser) n.8753A>C c.7071A>C (p.Arg2357Ser) c.7041A>C (p.Arg2347Ser) c.6993A>C (p.Arg2331Ser) c.6960A>C (p.Arg2320Ser) c.6930A>C (p.Arg2310Ser) c.6927A>C (p.Arg2309Ser) c.6879A>C (p.Arg2293Ser) c.6843A>C (p.Arg2281Ser) c.6840A>C (p.Arg2280Ser) c.6795A>C (p.Arg2265Ser) n.7460A>C | |
X | g.77520828C>A | CA413707094 | ATRX | c.7160G>T (p.Arg2387Ile) c.2258G>T (p.Arg753Ile) c.7046G>T (p.Arg2349Ile) c.*6788G>T (n.*6788G>T) n.5480G>T n.391G>T c.7157G>T (p.Arg2386Ile) c.7073G>T (p.Arg2358Ile) c.7043G>T (p.Arg2348Ile) c.6995G>T (p.Arg2332Ile) c.6956G>T (p.Arg2319Ile) c.6881G>T (p.Arg2294Ile) n.8752G>T c.7070G>T (p.Arg2357Ile) c.7040G>T (p.Arg2347Ile) c.6992G>T (p.Arg2331Ile) c.6959G>T (p.Arg2320Ile) c.6929G>T (p.Arg2310Ile) c.6926G>T (p.Arg2309Ile) c.6878G>T (p.Arg2293Ile) c.6842G>T (p.Arg2281Ile) c.6839G>T (p.Arg2280Ile) c.6794G>T (p.Arg2265Ile) n.7459G>T | |
X | g.77520828C>G | CA413707096 | ATRX | c.7160G>C (p.Arg2387Thr) c.2258G>C (p.Arg753Thr) c.7046G>C (p.Arg2349Thr) c.*6788G>C (n.*6788G>C) n.5480G>C n.391G>C c.7157G>C (p.Arg2386Thr) c.7073G>C (p.Arg2358Thr) c.7043G>C (p.Arg2348Thr) c.6995G>C (p.Arg2332Thr) c.6956G>C (p.Arg2319Thr) c.6881G>C (p.Arg2294Thr) n.8752G>C c.7070G>C (p.Arg2357Thr) c.7040G>C (p.Arg2347Thr) c.6992G>C (p.Arg2331Thr) c.6959G>C (p.Arg2320Thr) c.6929G>C (p.Arg2310Thr) c.6926G>C (p.Arg2309Thr) c.6878G>C (p.Arg2293Thr) c.6842G>C (p.Arg2281Thr) c.6839G>C (p.Arg2280Thr) c.6794G>C (p.Arg2265Thr) n.7459G>C | |
X | g.77520828C>T | CA413707098 | ATRX | c.7160G>A (p.Arg2387Lys) c.2258G>A (p.Arg753Lys) c.7046G>A (p.Arg2349Lys) c.*6788G>A (n.*6788G>A) n.5480G>A n.391G>A c.7157G>A (p.Arg2386Lys) c.7073G>A (p.Arg2358Lys) c.7043G>A (p.Arg2348Lys) c.6995G>A (p.Arg2332Lys) c.6956G>A (p.Arg2319Lys) c.6881G>A (p.Arg2294Lys) n.8752G>A c.7070G>A (p.Arg2357Lys) c.7040G>A (p.Arg2347Lys) c.6992G>A (p.Arg2331Lys) c.6959G>A (p.Arg2320Lys) c.6929G>A (p.Arg2310Lys) c.6926G>A (p.Arg2309Lys) c.6878G>A (p.Arg2293Lys) c.6842G>A (p.Arg2281Lys) c.6839G>A (p.Arg2280Lys) c.6794G>A (p.Arg2265Lys) n.7459G>A | |
X | g.77520829T>A | CA413707100 | ATRX | c.7159A>T (p.Arg2387Ter) c.2257A>T (p.Arg753Ter) c.7045A>T (p.Arg2349Ter) c.*6787A>T (n.*6787A>T) n.5479A>T n.390A>T c.7156A>T (p.Arg2386Ter) c.7072A>T (p.Arg2358Ter) c.7042A>T (p.Arg2348Ter) c.6994A>T (p.Arg2332Ter) c.6955A>T (p.Arg2319Ter) c.6880A>T (p.Arg2294Ter) n.8751A>T c.7069A>T (p.Arg2357Ter) c.7039A>T (p.Arg2347Ter) c.6991A>T (p.Arg2331Ter) c.6958A>T (p.Arg2320Ter) c.6928A>T (p.Arg2310Ter) c.6925A>T (p.Arg2309Ter) c.6877A>T (p.Arg2293Ter) c.6841A>T (p.Arg2281Ter) c.6838A>T (p.Arg2280Ter) c.6793A>T (p.Arg2265Ter) n.7458A>T | |
X | g.77520829T>C | CA413707102 | ATRX | c.7159A>G (p.Arg2387Gly) c.2257A>G (p.Arg753Gly) c.7045A>G (p.Arg2349Gly) c.*6787A>G (n.*6787A>G) n.5479A>G n.390A>G c.7156A>G (p.Arg2386Gly) c.7072A>G (p.Arg2358Gly) c.7042A>G (p.Arg2348Gly) c.6994A>G (p.Arg2332Gly) c.6955A>G (p.Arg2319Gly) c.6880A>G (p.Arg2294Gly) n.8751A>G c.7069A>G (p.Arg2357Gly) c.7039A>G (p.Arg2347Gly) c.6991A>G (p.Arg2331Gly) c.6958A>G (p.Arg2320Gly) c.6928A>G (p.Arg2310Gly) c.6925A>G (p.Arg2309Gly) c.6877A>G (p.Arg2293Gly) c.6841A>G (p.Arg2281Gly) c.6838A>G (p.Arg2280Gly) c.6793A>G (p.Arg2265Gly) n.7458A>G | |
X | g.77520829T>G | CA517374383 | ATRX | c.7159A>C (p.Arg2387=) c.2257A>C (p.Arg753=) c.7045A>C (p.Arg2349=) c.*6787A>C (n.*6787A>C) n.5479A>C n.390A>C c.7156A>C (p.Arg2386=) c.7072A>C (p.Arg2358=) c.7042A>C (p.Arg2348=) c.6994A>C (p.Arg2332=) c.6955A>C (p.Arg2319=) c.6880A>C (p.Arg2294=) n.8751A>C c.7069A>C (p.Arg2357=) c.7039A>C (p.Arg2347=) c.6991A>C (p.Arg2331=) c.6958A>C (p.Arg2320=) c.6928A>C (p.Arg2310=) c.6925A>C (p.Arg2309=) c.6877A>C (p.Arg2293=) c.6841A>C (p.Arg2281=) c.6838A>C (p.Arg2280=) c.6793A>C (p.Arg2265=) n.7458A>C | |
X | g.77520830T>A | CA517374384 | ATRX | c.7158A>T (p.Arg2386=) c.2256A>T (p.Arg752=) c.7044A>T (p.Arg2348=) c.*6786A>T (n.*6786A>T) n.5478A>T n.389A>T c.7155A>T (p.Arg2385=) c.7071A>T (p.Arg2357=) c.7041A>T (p.Arg2347=) c.6993A>T (p.Arg2331=) c.6954A>T (p.Arg2318=) c.6879A>T (p.Arg2293=) n.8750A>T c.7068A>T (p.Arg2356=) c.7038A>T (p.Arg2346=) c.6990A>T (p.Arg2330=) c.6957A>T (p.Arg2319=) c.6927A>T (p.Arg2309=) c.6924A>T (p.Arg2308=) c.6876A>T (p.Arg2292=) c.6840A>T (p.Arg2280=) c.6837A>T (p.Arg2279=) c.6792A>T (p.Arg2264=) n.7457A>T | |
X | g.77520830T>C | CA517374385 | ATRX | c.7158A>G (p.Arg2386=) c.2256A>G (p.Arg752=) c.7044A>G (p.Arg2348=) c.*6786A>G (n.*6786A>G) n.5478A>G n.389A>G c.7155A>G (p.Arg2385=) c.7071A>G (p.Arg2357=) c.7041A>G (p.Arg2347=) c.6993A>G (p.Arg2331=) c.6954A>G (p.Arg2318=) c.6879A>G (p.Arg2293=) n.8750A>G c.7068A>G (p.Arg2356=) c.7038A>G (p.Arg2346=) c.6990A>G (p.Arg2330=) c.6957A>G (p.Arg2319=) c.6927A>G (p.Arg2309=) c.6924A>G (p.Arg2308=) c.6876A>G (p.Arg2292=) c.6840A>G (p.Arg2280=) c.6837A>G (p.Arg2279=) c.6792A>G (p.Arg2264=) n.7457A>G | ClinVar dbSNP |
X | g.77520830T>G | CA517374386 | ATRX | c.7158A>C (p.Arg2386=) c.2256A>C (p.Arg752=) c.7044A>C (p.Arg2348=) c.*6786A>C (n.*6786A>C) n.5478A>C n.389A>C c.7155A>C (p.Arg2385=) c.7071A>C (p.Arg2357=) c.7041A>C (p.Arg2347=) c.6993A>C (p.Arg2331=) c.6954A>C (p.Arg2318=) c.6879A>C (p.Arg2293=) n.8750A>C c.7068A>C (p.Arg2356=) c.7038A>C (p.Arg2346=) c.6990A>C (p.Arg2330=) c.6957A>C (p.Arg2319=) c.6927A>C (p.Arg2309=) c.6924A>C (p.Arg2308=) c.6876A>C (p.Arg2292=) c.6840A>C (p.Arg2280=) c.6837A>C (p.Arg2279=) c.6792A>C (p.Arg2264=) n.7457A>C | |
X | g.77520830T= | CA2438933061 | ATRX | c.7158A= (p.Arg2386=) c.2256A= (p.Arg752=) c.7044A= (p.Arg2348=) c.*6786A= (n.*6786A=) n.5478A= n.389A= c.7155A= (p.Arg2385=) c.7071A= (p.Arg2357=) c.7041A= (p.Arg2347=) c.6993A= (p.Arg2331=) c.6954A= (p.Arg2318=) c.6879A= (p.Arg2293=) n.8750A= c.7068A= (p.Arg2356=) c.7038A= (p.Arg2346=) c.6990A= (p.Arg2330=) c.6957A= (p.Arg2319=) c.6927A= (p.Arg2309=) c.6924A= (p.Arg2308=) c.6876A= (p.Arg2292=) c.6840A= (p.Arg2280=) c.6837A= (p.Arg2279=) c.6792A= (p.Arg2264=) n.7457A= | |
X | g.77520831C>A | CA413707104 | ATRX | c.7157G>T (p.Arg2386Leu) c.2255G>T (p.Arg752Leu) c.7043G>T (p.Arg2348Leu) c.*6785G>T (n.*6785G>T) n.5477G>T n.388G>T c.7154G>T (p.Arg2385Leu) c.7070G>T (p.Arg2357Leu) c.7040G>T (p.Arg2347Leu) c.6992G>T (p.Arg2331Leu) c.6953G>T (p.Arg2318Leu) c.6878G>T (p.Arg2293Leu) n.8749G>T c.7067G>T (p.Arg2356Leu) c.7037G>T (p.Arg2346Leu) c.6989G>T (p.Arg2330Leu) c.6956G>T (p.Arg2319Leu) c.6926G>T (p.Arg2309Leu) c.6923G>T (p.Arg2308Leu) c.6875G>T (p.Arg2292Leu) c.6839G>T (p.Arg2280Leu) c.6836G>T (p.Arg2279Leu) c.6791G>T (p.Arg2264Leu) n.7456G>T | |
X | g.77520831C>G | CA413707107 | ATRX | c.7157G>C (p.Arg2386Pro) c.2255G>C (p.Arg752Pro) c.7043G>C (p.Arg2348Pro) c.*6785G>C (n.*6785G>C) n.5477G>C n.388G>C c.7154G>C (p.Arg2385Pro) c.7070G>C (p.Arg2357Pro) c.7040G>C (p.Arg2347Pro) c.6992G>C (p.Arg2331Pro) c.6953G>C (p.Arg2318Pro) c.6878G>C (p.Arg2293Pro) n.8749G>C c.7067G>C (p.Arg2356Pro) c.7037G>C (p.Arg2346Pro) c.6989G>C (p.Arg2330Pro) c.6956G>C (p.Arg2319Pro) c.6926G>C (p.Arg2309Pro) c.6923G>C (p.Arg2308Pro) c.6875G>C (p.Arg2292Pro) c.6839G>C (p.Arg2280Pro) c.6836G>C (p.Arg2279Pro) c.6791G>C (p.Arg2264Pro) n.7456G>C | |
X | g.77520831C>T | CA413707105 | ATRX | c.7157G>A (p.Arg2386Gln) c.2255G>A (p.Arg752Gln) c.7043G>A (p.Arg2348Gln) c.*6785G>A (n.*6785G>A) n.5477G>A n.388G>A c.7154G>A (p.Arg2385Gln) c.7070G>A (p.Arg2357Gln) c.7040G>A (p.Arg2347Gln) c.6992G>A (p.Arg2331Gln) c.6953G>A (p.Arg2318Gln) c.6878G>A (p.Arg2293Gln) n.8749G>A c.7067G>A (p.Arg2356Gln) c.7037G>A (p.Arg2346Gln) c.6989G>A (p.Arg2330Gln) c.6956G>A (p.Arg2319Gln) c.6926G>A (p.Arg2309Gln) c.6923G>A (p.Arg2308Gln) c.6875G>A (p.Arg2292Gln) c.6839G>A (p.Arg2280Gln) c.6836G>A (p.Arg2279Gln) c.6791G>A (p.Arg2264Gln) n.7456G>A | ClinVar gnomAD v4 |
X | g.77520832G>A | CA256034 | ATRX | c.7156C>T (p.Arg2386Ter) c.2254C>T (p.Arg752Ter) c.7042C>T (p.Arg2348Ter) c.*6784C>T (n.*6784C>T) n.5476C>T n.387C>T c.7153C>T (p.Arg2385Ter) c.7069C>T (p.Arg2357Ter) c.7039C>T (p.Arg2347Ter) c.6991C>T (p.Arg2331Ter) c.6952C>T (p.Arg2318Ter) c.6877C>T (p.Arg2293Ter) n.8748C>T c.7066C>T (p.Arg2356Ter) c.7036C>T (p.Arg2346Ter) c.6988C>T (p.Arg2330Ter) c.6955C>T (p.Arg2319Ter) c.6925C>T (p.Arg2309Ter) c.6922C>T (p.Arg2308Ter) c.6874C>T (p.Arg2292Ter) c.6838C>T (p.Arg2280Ter) c.6835C>T (p.Arg2279Ter) c.6790C>T (p.Arg2264Ter) n.7455C>T | ClinVar dbSNP |
X | g.77520832G>C | CA413707109 | ATRX | c.7156C>G (p.Arg2386Gly) c.2254C>G (p.Arg752Gly) c.7042C>G (p.Arg2348Gly) c.*6784C>G (n.*6784C>G) n.5476C>G n.387C>G c.7153C>G (p.Arg2385Gly) c.7069C>G (p.Arg2357Gly) c.7039C>G (p.Arg2347Gly) c.6991C>G (p.Arg2331Gly) c.6952C>G (p.Arg2318Gly) c.6877C>G (p.Arg2293Gly) n.8748C>G c.7066C>G (p.Arg2356Gly) c.7036C>G (p.Arg2346Gly) c.6988C>G (p.Arg2330Gly) c.6955C>G (p.Arg2319Gly) c.6925C>G (p.Arg2309Gly) c.6922C>G (p.Arg2308Gly) c.6874C>G (p.Arg2292Gly) c.6838C>G (p.Arg2280Gly) c.6835C>G (p.Arg2279Gly) c.6790C>G (p.Arg2264Gly) n.7455C>G | |
X | g.77520832G= | CA2438933062 | ATRX | c.7156C= (p.Arg2386=) c.2254C= (p.Arg752=) c.7042C= (p.Arg2348=) c.*6784C= (n.*6784C=) n.5476C= n.387C= c.7153C= (p.Arg2385=) c.7069C= (p.Arg2357=) c.7039C= (p.Arg2347=) c.6991C= (p.Arg2331=) c.6952C= (p.Arg2318=) c.6877C= (p.Arg2293=) n.8748C= c.7066C= (p.Arg2356=) c.7036C= (p.Arg2346=) c.6988C= (p.Arg2330=) c.6955C= (p.Arg2319=) c.6925C= (p.Arg2309=) c.6922C= (p.Arg2308=) c.6874C= (p.Arg2292=) c.6838C= (p.Arg2280=) c.6835C= (p.Arg2279=) c.6790C= (p.Arg2264=) n.7455C= | |
X | g.77520832G>T | CA517374387 | ATRX | c.7156C>A (p.Arg2386=) c.2254C>A (p.Arg752=) c.7042C>A (p.Arg2348=) c.*6784C>A (n.*6784C>A) n.5476C>A n.387C>A c.7153C>A (p.Arg2385=) c.7069C>A (p.Arg2357=) c.7039C>A (p.Arg2347=) c.6991C>A (p.Arg2331=) c.6952C>A (p.Arg2318=) c.6877C>A (p.Arg2293=) n.8748C>A c.7066C>A (p.Arg2356=) c.7036C>A (p.Arg2346=) c.6988C>A (p.Arg2330=) c.6955C>A (p.Arg2319=) c.6925C>A (p.Arg2309=) c.6922C>A (p.Arg2308=) c.6874C>A (p.Arg2292=) c.6838C>A (p.Arg2280=) c.6835C>A (p.Arg2279=) c.6790C>A (p.Arg2264=) n.7455C>A | |
X | g.77520833T>A | CA413707110 | ATRX | c.7155A>T (p.Lys2385Asn) c.2253A>T (p.Lys751Asn) c.7041A>T (p.Lys2347Asn) c.*6783A>T (n.*6783A>T) n.5475A>T n.386A>T c.7152A>T (p.Lys2384Asn) c.7068A>T (p.Lys2356Asn) c.7038A>T (p.Lys2346Asn) c.6990A>T (p.Lys2330Asn) c.6951A>T (p.Lys2317Asn) c.6876A>T (p.Lys2292Asn) n.8747A>T c.7065A>T (p.Lys2355Asn) c.7035A>T (p.Lys2345Asn) c.6987A>T (p.Lys2329Asn) c.6954A>T (p.Lys2318Asn) c.6924A>T (p.Lys2308Asn) c.6921A>T (p.Lys2307Asn) c.6873A>T (p.Lys2291Asn) c.6837A>T (p.Lys2279Asn) c.6834A>T (p.Lys2278Asn) c.6789A>T (p.Lys2263Asn) n.7454A>T | |
X | g.77520833T>C | CA517374388 | ATRX | c.7155A>G (p.Lys2385=) c.2253A>G (p.Lys751=) c.7041A>G (p.Lys2347=) c.*6783A>G (n.*6783A>G) n.5475A>G n.386A>G c.7152A>G (p.Lys2384=) c.7068A>G (p.Lys2356=) c.7038A>G (p.Lys2346=) c.6990A>G (p.Lys2330=) c.6951A>G (p.Lys2317=) c.6876A>G (p.Lys2292=) n.8747A>G c.7065A>G (p.Lys2355=) c.7035A>G (p.Lys2345=) c.6987A>G (p.Lys2329=) c.6954A>G (p.Lys2318=) c.6924A>G (p.Lys2308=) c.6921A>G (p.Lys2307=) c.6873A>G (p.Lys2291=) c.6837A>G (p.Lys2279=) c.6834A>G (p.Lys2278=) c.6789A>G (p.Lys2263=) n.7454A>G | |
X | g.77520833T>G | CA413707111 | ATRX | c.7155A>C (p.Lys2385Asn) c.2253A>C (p.Lys751Asn) c.7041A>C (p.Lys2347Asn) c.*6783A>C (n.*6783A>C) n.5475A>C n.386A>C c.7152A>C (p.Lys2384Asn) c.7068A>C (p.Lys2356Asn) c.7038A>C (p.Lys2346Asn) c.6990A>C (p.Lys2330Asn) c.6951A>C (p.Lys2317Asn) c.6876A>C (p.Lys2292Asn) n.8747A>C c.7065A>C (p.Lys2355Asn) c.7035A>C (p.Lys2345Asn) c.6987A>C (p.Lys2329Asn) c.6954A>C (p.Lys2318Asn) c.6924A>C (p.Lys2308Asn) c.6921A>C (p.Lys2307Asn) c.6873A>C (p.Lys2291Asn) c.6837A>C (p.Lys2279Asn) c.6834A>C (p.Lys2278Asn) c.6789A>C (p.Lys2263Asn) n.7454A>C | |
X | g.77520834T>A | CA413707122 | ATRX | c.7154A>T (p.Lys2385Ile) c.2252A>T (p.Lys751Ile) c.7040A>T (p.Lys2347Ile) c.*6782A>T (n.*6782A>T) n.5474A>T n.385A>T c.7151A>T (p.Lys2384Ile) c.7067A>T (p.Lys2356Ile) c.7037A>T (p.Lys2346Ile) c.6989A>T (p.Lys2330Ile) c.6950A>T (p.Lys2317Ile) c.6875A>T (p.Lys2292Ile) n.8746A>T c.7064A>T (p.Lys2355Ile) c.7034A>T (p.Lys2345Ile) c.6986A>T (p.Lys2329Ile) c.6953A>T (p.Lys2318Ile) c.6923A>T (p.Lys2308Ile) c.6920A>T (p.Lys2307Ile) c.6872A>T (p.Lys2291Ile) c.6836A>T (p.Lys2279Ile) c.6833A>T (p.Lys2278Ile) c.6788A>T (p.Lys2263Ile) n.7453A>T | |
X | g.77520834T>C | CA413707123 | ATRX | c.7154A>G (p.Lys2385Arg) c.2252A>G (p.Lys751Arg) c.7040A>G (p.Lys2347Arg) c.*6782A>G (n.*6782A>G) n.5474A>G n.385A>G c.7151A>G (p.Lys2384Arg) c.7067A>G (p.Lys2356Arg) c.7037A>G (p.Lys2346Arg) c.6989A>G (p.Lys2330Arg) c.6950A>G (p.Lys2317Arg) c.6875A>G (p.Lys2292Arg) n.8746A>G c.7064A>G (p.Lys2355Arg) c.7034A>G (p.Lys2345Arg) c.6986A>G (p.Lys2329Arg) c.6953A>G (p.Lys2318Arg) c.6923A>G (p.Lys2308Arg) c.6920A>G (p.Lys2307Arg) c.6872A>G (p.Lys2291Arg) c.6836A>G (p.Lys2279Arg) c.6833A>G (p.Lys2278Arg) c.6788A>G (p.Lys2263Arg) n.7453A>G | |
X | g.77520834T>G | CA413707124 | ATRX | c.7154A>C (p.Lys2385Thr) c.2252A>C (p.Lys751Thr) c.7040A>C (p.Lys2347Thr) c.*6782A>C (n.*6782A>C) n.5474A>C n.385A>C c.7151A>C (p.Lys2384Thr) c.7067A>C (p.Lys2356Thr) c.7037A>C (p.Lys2346Thr) c.6989A>C (p.Lys2330Thr) c.6950A>C (p.Lys2317Thr) c.6875A>C (p.Lys2292Thr) n.8746A>C c.7064A>C (p.Lys2355Thr) c.7034A>C (p.Lys2345Thr) c.6986A>C (p.Lys2329Thr) c.6953A>C (p.Lys2318Thr) c.6923A>C (p.Lys2308Thr) c.6920A>C (p.Lys2307Thr) c.6872A>C (p.Lys2291Thr) c.6836A>C (p.Lys2279Thr) c.6833A>C (p.Lys2278Thr) c.6788A>C (p.Lys2263Thr) n.7453A>C | |
X | g.77520835T>A | CA413707128 | ATRX | c.7153A>T (p.Lys2385Ter) c.2251A>T (p.Lys751Ter) c.7039A>T (p.Lys2347Ter) c.*6781A>T (n.*6781A>T) n.5473A>T n.384A>T c.7150A>T (p.Lys2384Ter) c.7066A>T (p.Lys2356Ter) c.7036A>T (p.Lys2346Ter) c.6988A>T (p.Lys2330Ter) c.6949A>T (p.Lys2317Ter) c.6874A>T (p.Lys2292Ter) n.8745A>T c.7063A>T (p.Lys2355Ter) c.7033A>T (p.Lys2345Ter) c.6985A>T (p.Lys2329Ter) c.6952A>T (p.Lys2318Ter) c.6922A>T (p.Lys2308Ter) c.6919A>T (p.Lys2307Ter) c.6871A>T (p.Lys2291Ter) c.6835A>T (p.Lys2279Ter) c.6832A>T (p.Lys2278Ter) c.6787A>T (p.Lys2263Ter) n.7452A>T | |
X | g.77520835T>C | CA413707129 | ATRX | c.7153A>G (p.Lys2385Glu) c.2251A>G (p.Lys751Glu) c.7039A>G (p.Lys2347Glu) c.*6781A>G (n.*6781A>G) n.5473A>G n.384A>G c.7150A>G (p.Lys2384Glu) c.7066A>G (p.Lys2356Glu) c.7036A>G (p.Lys2346Glu) c.6988A>G (p.Lys2330Glu) c.6949A>G (p.Lys2317Glu) c.6874A>G (p.Lys2292Glu) n.8745A>G c.7063A>G (p.Lys2355Glu) c.7033A>G (p.Lys2345Glu) c.6985A>G (p.Lys2329Glu) c.6952A>G (p.Lys2318Glu) c.6922A>G (p.Lys2308Glu) c.6919A>G (p.Lys2307Glu) c.6871A>G (p.Lys2291Glu) c.6835A>G (p.Lys2279Glu) c.6832A>G (p.Lys2278Glu) c.6787A>G (p.Lys2263Glu) n.7452A>G | dbSNP gnomAD v3 gnomAD v4 |
X | g.77520835T>G | CA413707130 | ATRX | c.7153A>C (p.Lys2385Gln) c.2251A>C (p.Lys751Gln) c.7039A>C (p.Lys2347Gln) c.*6781A>C (n.*6781A>C) n.5473A>C n.384A>C c.7150A>C (p.Lys2384Gln) c.7066A>C (p.Lys2356Gln) c.7036A>C (p.Lys2346Gln) c.6988A>C (p.Lys2330Gln) c.6949A>C (p.Lys2317Gln) c.6874A>C (p.Lys2292Gln) n.8745A>C c.7063A>C (p.Lys2355Gln) c.7033A>C (p.Lys2345Gln) c.6985A>C (p.Lys2329Gln) c.6952A>C (p.Lys2318Gln) c.6922A>C (p.Lys2308Gln) c.6919A>C (p.Lys2307Gln) c.6871A>C (p.Lys2291Gln) c.6835A>C (p.Lys2279Gln) c.6832A>C (p.Lys2278Gln) c.6787A>C (p.Lys2263Gln) n.7452A>C | |
X | g.77520835T= | CA2438933063 | ATRX | c.7153A= (p.Lys2385=) c.2251A= (p.Lys751=) c.7039A= (p.Lys2347=) c.*6781A= (n.*6781A=) n.5473A= n.384A= c.7150A= (p.Lys2384=) c.7066A= (p.Lys2356=) c.7036A= (p.Lys2346=) c.6988A= (p.Lys2330=) c.6949A= (p.Lys2317=) c.6874A= (p.Lys2292=) n.8745A= c.7063A= (p.Lys2355=) c.7033A= (p.Lys2345=) c.6985A= (p.Lys2329=) c.6952A= (p.Lys2318=) c.6922A= (p.Lys2308=) c.6919A= (p.Lys2307=) c.6871A= (p.Lys2291=) c.6835A= (p.Lys2279=) c.6832A= (p.Lys2278=) c.6787A= (p.Lys2263=) n.7452A= | |
X | g.77520836A>C | CA517374389 | ATRX | c.7152T>G (p.Val2384=) c.2250T>G (p.Val750=) c.7038T>G (p.Val2346=) c.*6780T>G (n.*6780T>G) n.5472T>G n.383T>G c.7149T>G (p.Val2383=) c.7065T>G (p.Val2355=) c.7035T>G (p.Val2345=) c.6987T>G (p.Val2329=) c.6948T>G (p.Val2316=) c.6873T>G (p.Val2291=) n.8744T>G c.7062T>G (p.Val2354=) c.7032T>G (p.Val2344=) c.6984T>G (p.Val2328=) c.6951T>G (p.Val2317=) c.6921T>G (p.Val2307=) c.6918T>G (p.Val2306=) c.6870T>G (p.Val2290=) c.6834T>G (p.Val2278=) c.6831T>G (p.Val2277=) c.6786T>G (p.Val2262=) n.7451T>G | |
X | g.77520836A>G | CA517374391 | ATRX | c.7152T>C (p.Val2384=) c.2250T>C (p.Val750=) c.7038T>C (p.Val2346=) c.*6780T>C (n.*6780T>C) n.5472T>C n.383T>C c.7149T>C (p.Val2383=) c.7065T>C (p.Val2355=) c.7035T>C (p.Val2345=) c.6987T>C (p.Val2329=) c.6948T>C (p.Val2316=) c.6873T>C (p.Val2291=) n.8744T>C c.7062T>C (p.Val2354=) c.7032T>C (p.Val2344=) c.6984T>C (p.Val2328=) c.6951T>C (p.Val2317=) c.6921T>C (p.Val2307=) c.6918T>C (p.Val2306=) c.6870T>C (p.Val2290=) c.6834T>C (p.Val2278=) c.6831T>C (p.Val2277=) c.6786T>C (p.Val2262=) n.7451T>C | |
X | g.77520836A>T | CA517374390 | ATRX | c.7152T>A (p.Val2384=) c.2250T>A (p.Val750=) c.7038T>A (p.Val2346=) c.*6780T>A (n.*6780T>A) n.5472T>A n.383T>A c.7149T>A (p.Val2383=) c.7065T>A (p.Val2355=) c.7035T>A (p.Val2345=) c.6987T>A (p.Val2329=) c.6948T>A (p.Val2316=) c.6873T>A (p.Val2291=) n.8744T>A c.7062T>A (p.Val2354=) c.7032T>A (p.Val2344=) c.6984T>A (p.Val2328=) c.6951T>A (p.Val2317=) c.6921T>A (p.Val2307=) c.6918T>A (p.Val2306=) c.6870T>A (p.Val2290=) c.6834T>A (p.Val2278=) c.6831T>A (p.Val2277=) c.6786T>A (p.Val2262=) n.7451T>A | |
X | g.77520837A>C | CA413707137 | ATRX | c.7151T>G (p.Val2384Gly) c.2249T>G (p.Val750Gly) c.7037T>G (p.Val2346Gly) c.*6779T>G (n.*6779T>G) n.5471T>G n.382T>G c.7148T>G (p.Val2383Gly) c.7064T>G (p.Val2355Gly) c.7034T>G (p.Val2345Gly) c.6986T>G (p.Val2329Gly) c.6947T>G (p.Val2316Gly) c.6872T>G (p.Val2291Gly) n.8743T>G c.7061T>G (p.Val2354Gly) c.7031T>G (p.Val2344Gly) c.6983T>G (p.Val2328Gly) c.6950T>G (p.Val2317Gly) c.6920T>G (p.Val2307Gly) c.6917T>G (p.Val2306Gly) c.6869T>G (p.Val2290Gly) c.6833T>G (p.Val2278Gly) c.6830T>G (p.Val2277Gly) c.6785T>G (p.Val2262Gly) n.7450T>G | |
X | g.77520837A>G | CA413707135 | ATRX | c.7151T>C (p.Val2384Ala) c.2249T>C (p.Val750Ala) c.7037T>C (p.Val2346Ala) c.*6779T>C (n.*6779T>C) n.5471T>C n.382T>C c.7148T>C (p.Val2383Ala) c.7064T>C (p.Val2355Ala) c.7034T>C (p.Val2345Ala) c.6986T>C (p.Val2329Ala) c.6947T>C (p.Val2316Ala) c.6872T>C (p.Val2291Ala) n.8743T>C c.7061T>C (p.Val2354Ala) c.7031T>C (p.Val2344Ala) c.6983T>C (p.Val2328Ala) c.6950T>C (p.Val2317Ala) c.6920T>C (p.Val2307Ala) c.6917T>C (p.Val2306Ala) c.6869T>C (p.Val2290Ala) c.6833T>C (p.Val2278Ala) c.6830T>C (p.Val2277Ala) c.6785T>C (p.Val2262Ala) n.7450T>C | |
X | g.77520837A>T | CA413707133 | ATRX | c.7151T>A (p.Val2384Asp) c.2249T>A (p.Val750Asp) c.7037T>A (p.Val2346Asp) c.*6779T>A (n.*6779T>A) n.5471T>A n.382T>A c.7148T>A (p.Val2383Asp) c.7064T>A (p.Val2355Asp) c.7034T>A (p.Val2345Asp) c.6986T>A (p.Val2329Asp) c.6947T>A (p.Val2316Asp) c.6872T>A (p.Val2291Asp) n.8743T>A c.7061T>A (p.Val2354Asp) c.7031T>A (p.Val2344Asp) c.6983T>A (p.Val2328Asp) c.6950T>A (p.Val2317Asp) c.6920T>A (p.Val2307Asp) c.6917T>A (p.Val2306Asp) c.6869T>A (p.Val2290Asp) c.6833T>A (p.Val2278Asp) c.6830T>A (p.Val2277Asp) c.6785T>A (p.Val2262Asp) n.7450T>A | |
X | g.77520838C>A | CA413707138 | ATRX | c.7150G>T (p.Val2384Phe) c.2248G>T (p.Val750Phe) c.7036G>T (p.Val2346Phe) c.*6778G>T (n.*6778G>T) n.5470G>T n.381G>T c.7147G>T (p.Val2383Phe) c.7063G>T (p.Val2355Phe) c.7033G>T (p.Val2345Phe) c.6985G>T (p.Val2329Phe) c.6946G>T (p.Val2316Phe) c.6871G>T (p.Val2291Phe) n.8742G>T c.7060G>T (p.Val2354Phe) c.7030G>T (p.Val2344Phe) c.6982G>T (p.Val2328Phe) c.6949G>T (p.Val2317Phe) c.6919G>T (p.Val2307Phe) c.6916G>T (p.Val2306Phe) c.6868G>T (p.Val2290Phe) c.6832G>T (p.Val2278Phe) c.6829G>T (p.Val2277Phe) c.6784G>T (p.Val2262Phe) n.7449G>T | |
X | g.77520838C= | CA2438933064 | ATRX | c.7150G= (p.Val2384=) c.2248G= (p.Val750=) c.7036G= (p.Val2346=) c.*6778G= (n.*6778G=) n.5470G= n.381G= c.7147G= (p.Val2383=) c.7063G= (p.Val2355=) c.7033G= (p.Val2345=) c.6985G= (p.Val2329=) c.6946G= (p.Val2316=) c.6871G= (p.Val2291=) n.8742G= c.7060G= (p.Val2354=) c.7030G= (p.Val2344=) c.6982G= (p.Val2328=) c.6949G= (p.Val2317=) c.6919G= (p.Val2307=) c.6916G= (p.Val2306=) c.6868G= (p.Val2290=) c.6832G= (p.Val2278=) c.6829G= (p.Val2277=) c.6784G= (p.Val2262=) n.7449G= | |
X | g.77520838C>G | CA413707140 | ATRX | c.7150G>C (p.Val2384Leu) c.2248G>C (p.Val750Leu) c.7036G>C (p.Val2346Leu) c.*6778G>C (n.*6778G>C) n.5470G>C n.381G>C c.7147G>C (p.Val2383Leu) c.7063G>C (p.Val2355Leu) c.7033G>C (p.Val2345Leu) c.6985G>C (p.Val2329Leu) c.6946G>C (p.Val2316Leu) c.6871G>C (p.Val2291Leu) n.8742G>C c.7060G>C (p.Val2354Leu) c.7030G>C (p.Val2344Leu) c.6982G>C (p.Val2328Leu) c.6949G>C (p.Val2317Leu) c.6919G>C (p.Val2307Leu) c.6916G>C (p.Val2306Leu) c.6868G>C (p.Val2290Leu) c.6832G>C (p.Val2278Leu) c.6829G>C (p.Val2277Leu) c.6784G>C (p.Val2262Leu) n.7449G>C | |
X | g.77520838C>T | CA413707142 | ATRX | c.7150G>A (p.Val2384Ile) c.2248G>A (p.Val750Ile) c.7036G>A (p.Val2346Ile) c.*6778G>A (n.*6778G>A) n.5470G>A n.381G>A c.7147G>A (p.Val2383Ile) c.7063G>A (p.Val2355Ile) c.7033G>A (p.Val2345Ile) c.6985G>A (p.Val2329Ile) c.6946G>A (p.Val2316Ile) c.6871G>A (p.Val2291Ile) n.8742G>A c.7060G>A (p.Val2354Ile) c.7030G>A (p.Val2344Ile) c.6982G>A (p.Val2328Ile) c.6949G>A (p.Val2317Ile) c.6919G>A (p.Val2307Ile) c.6916G>A (p.Val2306Ile) c.6868G>A (p.Val2290Ile) c.6832G>A (p.Val2278Ile) c.6829G>A (p.Val2277Ile) c.6784G>A (p.Val2262Ile) n.7449G>A | dbSNP gnomAD v2 gnomAD v4 |
X | g.77520838_77520839insTTTTAATTTTTGTGAGTATATAATAGGTATATAT | CA2532902875 | ATRX | c.7149_7150insATATATACCTATTATATACTCACAAAAATTAAAA (p.Val2384IlefsTer13) c.2247_2248insATATATACCTATTATATACTCACAAAAATTAAAA (p.Val750IlefsTer13) c.7035_7036insATATATACCTATTATATACTCACAAAAATTAAAA (p.Val2346IlefsTer13) c.*6777_*6778insATATATACCTATTATATACTCACAAAAATTAAAA (n.*6777_*6778insATATATACCTATTATATACTCACAAAAATTAAAA) n.5469_5470insATATATACCTATTATATACTCACAAAAATTAAAA n.380_381insATATATACCTATTATATACTCACAAAAATTAAAA c.7146_7147insATATATACCTATTATATACTCACAAAAATTAAAA (p.Val2383IlefsTer13) c.7062_7063insATATATACCTATTATATACTCACAAAAATTAAAA (p.Val2355IlefsTer13) c.7032_7033insATATATACCTATTATATACTCACAAAAATTAAAA (p.Val2345IlefsTer13) c.6984_6985insATATATACCTATTATATACTCACAAAAATTAAAA (p.Val2329IlefsTer13) c.6945_6946insATATATACCTATTATATACTCACAAAAATTAAAA (p.Val2316IlefsTer13) c.6870_6871insATATATACCTATTATATACTCACAAAAATTAAAA (p.Val2291IlefsTer13) n.8741_8742insATATATACCTATTATATACTCACAAAAATTAAAA c.7059_7060insATATATACCTATTATATACTCACAAAAATTAAAA (p.Val2354IlefsTer13) c.7029_7030insATATATACCTATTATATACTCACAAAAATTAAAA (p.Val2344IlefsTer13) c.6981_6982insATATATACCTATTATATACTCACAAAAATTAAAA (p.Val2328IlefsTer13) c.6948_6949insATATATACCTATTATATACTCACAAAAATTAAAA (p.Val2317IlefsTer13) c.6918_6919insATATATACCTATTATATACTCACAAAAATTAAAA (p.Val2307IlefsTer13) c.6915_6916insATATATACCTATTATATACTCACAAAAATTAAAA (p.Val2306IlefsTer13) c.6867_6868insATATATACCTATTATATACTCACAAAAATTAAAA (p.Val2290IlefsTer13) c.6831_6832insATATATACCTATTATATACTCACAAAAATTAAAA (p.Val2278IlefsTer13) c.6828_6829insATATATACCTATTATATACTCACAAAAATTAAAA (p.Val2277IlefsTer13) c.6783_6784insATATATACCTATTATATACTCACAAAAATTAAAA (p.Val2262IlefsTer13) n.7448_7449insATATATACCTATTATATACTCACAAAAATTAAAA | |
X | g.77520839A>C | CA413707144 | ATRX | c.7149T>G (p.Asp2383Glu) c.2247T>G (p.Asp749Glu) c.7035T>G (p.Asp2345Glu) c.*6777T>G (n.*6777T>G) n.5469T>G n.380T>G c.7146T>G (p.Asp2382Glu) c.7062T>G (p.Asp2354Glu) c.7032T>G (p.Asp2344Glu) c.6984T>G (p.Asp2328Glu) c.6945T>G (p.Asp2315Glu) c.6870T>G (p.Asp2290Glu) n.8741T>G c.7059T>G (p.Asp2353Glu) c.7029T>G (p.Asp2343Glu) c.6981T>G (p.Asp2327Glu) c.6948T>G (p.Asp2316Glu) c.6918T>G (p.Asp2306Glu) c.6915T>G (p.Asp2305Glu) c.6867T>G (p.Asp2289Glu) c.6831T>G (p.Asp2277Glu) c.6828T>G (p.Asp2276Glu) c.6783T>G (p.Asp2261Glu) n.7448T>G | |
X | g.77520839A>G | CA517374392 | ATRX | c.7149T>C (p.Asp2383=) c.2247T>C (p.Asp749=) c.7035T>C (p.Asp2345=) c.*6777T>C (n.*6777T>C) n.5469T>C n.380T>C c.7146T>C (p.Asp2382=) c.7062T>C (p.Asp2354=) c.7032T>C (p.Asp2344=) c.6984T>C (p.Asp2328=) c.6945T>C (p.Asp2315=) c.6870T>C (p.Asp2290=) n.8741T>C c.7059T>C (p.Asp2353=) c.7029T>C (p.Asp2343=) c.6981T>C (p.Asp2327=) c.6948T>C (p.Asp2316=) c.6918T>C (p.Asp2306=) c.6915T>C (p.Asp2305=) c.6867T>C (p.Asp2289=) c.6831T>C (p.Asp2277=) c.6828T>C (p.Asp2276=) c.6783T>C (p.Asp2261=) n.7448T>C | |
X | g.77520839A>T | CA413707146 | ATRX | c.7149T>A (p.Asp2383Glu) c.2247T>A (p.Asp749Glu) c.7035T>A (p.Asp2345Glu) c.*6777T>A (n.*6777T>A) n.5469T>A n.380T>A c.7146T>A (p.Asp2382Glu) c.7062T>A (p.Asp2354Glu) c.7032T>A (p.Asp2344Glu) c.6984T>A (p.Asp2328Glu) c.6945T>A (p.Asp2315Glu) c.6870T>A (p.Asp2290Glu) n.8741T>A c.7059T>A (p.Asp2353Glu) c.7029T>A (p.Asp2343Glu) c.6981T>A (p.Asp2327Glu) c.6948T>A (p.Asp2316Glu) c.6918T>A (p.Asp2306Glu) c.6915T>A (p.Asp2305Glu) c.6867T>A (p.Asp2289Glu) c.6831T>A (p.Asp2277Glu) c.6828T>A (p.Asp2276Glu) c.6783T>A (p.Asp2261Glu) n.7448T>A | |
X | g.77520840T>A | CA413707148 | ATRX | c.7148A>T (p.Asp2383Val) c.2246A>T (p.Asp749Val) c.7034A>T (p.Asp2345Val) c.*6776A>T (n.*6776A>T) n.5468A>T n.379A>T c.7145A>T (p.Asp2382Val) c.7061A>T (p.Asp2354Val) c.7031A>T (p.Asp2344Val) c.6983A>T (p.Asp2328Val) c.6944A>T (p.Asp2315Val) c.6869A>T (p.Asp2290Val) n.8740A>T c.7058A>T (p.Asp2353Val) c.7028A>T (p.Asp2343Val) c.6980A>T (p.Asp2327Val) c.6947A>T (p.Asp2316Val) c.6917A>T (p.Asp2306Val) c.6914A>T (p.Asp2305Val) c.6866A>T (p.Asp2289Val) c.6830A>T (p.Asp2277Val) c.6827A>T (p.Asp2276Val) c.6782A>T (p.Asp2261Val) n.7447A>T | |
X | g.77520840T>C | CA413707150 | ATRX | c.7148A>G (p.Asp2383Gly) c.2246A>G (p.Asp749Gly) c.7034A>G (p.Asp2345Gly) c.*6776A>G (n.*6776A>G) n.5468A>G n.379A>G c.7145A>G (p.Asp2382Gly) c.7061A>G (p.Asp2354Gly) c.7031A>G (p.Asp2344Gly) c.6983A>G (p.Asp2328Gly) c.6944A>G (p.Asp2315Gly) c.6869A>G (p.Asp2290Gly) n.8740A>G c.7058A>G (p.Asp2353Gly) c.7028A>G (p.Asp2343Gly) c.6980A>G (p.Asp2327Gly) c.6947A>G (p.Asp2316Gly) c.6917A>G (p.Asp2306Gly) c.6914A>G (p.Asp2305Gly) c.6866A>G (p.Asp2289Gly) c.6830A>G (p.Asp2277Gly) c.6827A>G (p.Asp2276Gly) c.6782A>G (p.Asp2261Gly) n.7447A>G | |
X | g.77520840T>G | CA413707151 | ATRX | c.7148A>C (p.Asp2383Ala) c.2246A>C (p.Asp749Ala) c.7034A>C (p.Asp2345Ala) c.*6776A>C (n.*6776A>C) n.5468A>C n.379A>C c.7145A>C (p.Asp2382Ala) c.7061A>C (p.Asp2354Ala) c.7031A>C (p.Asp2344Ala) c.6983A>C (p.Asp2328Ala) c.6944A>C (p.Asp2315Ala) c.6869A>C (p.Asp2290Ala) n.8740A>C c.7058A>C (p.Asp2353Ala) c.7028A>C (p.Asp2343Ala) c.6980A>C (p.Asp2327Ala) c.6947A>C (p.Asp2316Ala) c.6917A>C (p.Asp2306Ala) c.6914A>C (p.Asp2305Ala) c.6866A>C (p.Asp2289Ala) c.6830A>C (p.Asp2277Ala) c.6827A>C (p.Asp2276Ala) c.6782A>C (p.Asp2261Ala) n.7447A>C | |
X | g.77520841C>A | CA413707152 | ATRX | c.7147G>T (p.Asp2383Tyr) c.2245G>T (p.Asp749Tyr) c.7033G>T (p.Asp2345Tyr) c.*6775G>T (n.*6775G>T) n.5467G>T n.378G>T c.7144G>T (p.Asp2382Tyr) c.7060G>T (p.Asp2354Tyr) c.7030G>T (p.Asp2344Tyr) c.6982G>T (p.Asp2328Tyr) c.6943G>T (p.Asp2315Tyr) c.6868G>T (p.Asp2290Tyr) n.8739G>T c.7057G>T (p.Asp2353Tyr) c.7027G>T (p.Asp2343Tyr) c.6979G>T (p.Asp2327Tyr) c.6946G>T (p.Asp2316Tyr) c.6916G>T (p.Asp2306Tyr) c.6913G>T (p.Asp2305Tyr) c.6865G>T (p.Asp2289Tyr) c.6829G>T (p.Asp2277Tyr) c.6826G>T (p.Asp2276Tyr) c.6781G>T (p.Asp2261Tyr) n.7446G>T | |
X | g.77520841C= | CA2438933065 | ATRX | c.7147G= (p.Asp2383=) c.2245G= (p.Asp749=) c.7033G= (p.Asp2345=) c.*6775G= (n.*6775G=) n.5467G= n.378G= c.7144G= (p.Asp2382=) c.7060G= (p.Asp2354=) c.7030G= (p.Asp2344=) c.6982G= (p.Asp2328=) c.6943G= (p.Asp2315=) c.6868G= (p.Asp2290=) n.8739G= c.7057G= (p.Asp2353=) c.7027G= (p.Asp2343=) c.6979G= (p.Asp2327=) c.6946G= (p.Asp2316=) c.6916G= (p.Asp2306=) c.6913G= (p.Asp2305=) c.6865G= (p.Asp2289=) c.6829G= (p.Asp2277=) c.6826G= (p.Asp2276=) c.6781G= (p.Asp2261=) n.7446G= | |
X | g.77520841C>G | CA16043294 | ATRX | c.7147G>C (p.Asp2383His) c.2245G>C (p.Asp749His) c.7033G>C (p.Asp2345His) c.*6775G>C (n.*6775G>C) n.5467G>C n.378G>C c.7144G>C (p.Asp2382His) c.7060G>C (p.Asp2354His) c.7030G>C (p.Asp2344His) c.6982G>C (p.Asp2328His) c.6943G>C (p.Asp2315His) c.6868G>C (p.Asp2290His) n.8739G>C c.7057G>C (p.Asp2353His) c.7027G>C (p.Asp2343His) c.6979G>C (p.Asp2327His) c.6946G>C (p.Asp2316His) c.6916G>C (p.Asp2306His) c.6913G>C (p.Asp2305His) c.6865G>C (p.Asp2289His) c.6829G>C (p.Asp2277His) c.6826G>C (p.Asp2276His) c.6781G>C (p.Asp2261His) n.7446G>C | ClinVar dbSNP |
X | g.77520841C>T | CA413707154 | ATRX | c.7147G>A (p.Asp2383Asn) c.2245G>A (p.Asp749Asn) c.7033G>A (p.Asp2345Asn) c.*6775G>A (n.*6775G>A) n.5467G>A n.378G>A c.7144G>A (p.Asp2382Asn) c.7060G>A (p.Asp2354Asn) c.7030G>A (p.Asp2344Asn) c.6982G>A (p.Asp2328Asn) c.6943G>A (p.Asp2315Asn) c.6868G>A (p.Asp2290Asn) n.8739G>A c.7057G>A (p.Asp2353Asn) c.7027G>A (p.Asp2343Asn) c.6979G>A (p.Asp2327Asn) c.6946G>A (p.Asp2316Asn) c.6916G>A (p.Asp2306Asn) c.6913G>A (p.Asp2305Asn) c.6865G>A (p.Asp2289Asn) c.6829G>A (p.Asp2277Asn) c.6826G>A (p.Asp2276Asn) c.6781G>A (p.Asp2261Asn) n.7446G>A | |
X | g.77520842A= | CA2438933066 | ATRX | c.7146T= (p.Leu2382=) c.2244T= (p.Leu748=) c.7032T= (p.Leu2344=) c.*6774T= (n.*6774T=) n.5466T= n.377T= c.7143T= (p.Leu2381=) c.7059T= (p.Leu2353=) c.7029T= (p.Leu2343=) c.6981T= (p.Leu2327=) c.6942T= (p.Leu2314=) c.6867T= (p.Leu2289=) n.8738T= c.7056T= (p.Leu2352=) c.7026T= (p.Leu2342=) c.6978T= (p.Leu2326=) c.6945T= (p.Leu2315=) c.6915T= (p.Leu2305=) c.6912T= (p.Leu2304=) c.6864T= (p.Leu2288=) c.6828T= (p.Leu2276=) c.6825T= (p.Leu2275=) c.6780T= (p.Leu2260=) n.7445T= | |
X | g.77520842A>C | CA517374393 | ATRX | c.7146T>G (p.Leu2382=) c.2244T>G (p.Leu748=) c.7032T>G (p.Leu2344=) c.*6774T>G (n.*6774T>G) n.5466T>G n.377T>G c.7143T>G (p.Leu2381=) c.7059T>G (p.Leu2353=) c.7029T>G (p.Leu2343=) c.6981T>G (p.Leu2327=) c.6942T>G (p.Leu2314=) c.6867T>G (p.Leu2289=) n.8738T>G c.7056T>G (p.Leu2352=) c.7026T>G (p.Leu2342=) c.6978T>G (p.Leu2326=) c.6945T>G (p.Leu2315=) c.6915T>G (p.Leu2305=) c.6912T>G (p.Leu2304=) c.6864T>G (p.Leu2288=) c.6828T>G (p.Leu2276=) c.6825T>G (p.Leu2275=) c.6780T>G (p.Leu2260=) n.7445T>G | dbSNP |
X | g.77520842A>G | CA517374394 | ATRX | c.7146T>C (p.Leu2382=) c.2244T>C (p.Leu748=) c.7032T>C (p.Leu2344=) c.*6774T>C (n.*6774T>C) n.5466T>C n.377T>C c.7143T>C (p.Leu2381=) c.7059T>C (p.Leu2353=) c.7029T>C (p.Leu2343=) c.6981T>C (p.Leu2327=) c.6942T>C (p.Leu2314=) c.6867T>C (p.Leu2289=) n.8738T>C c.7056T>C (p.Leu2352=) c.7026T>C (p.Leu2342=) c.6978T>C (p.Leu2326=) c.6945T>C (p.Leu2315=) c.6915T>C (p.Leu2305=) c.6912T>C (p.Leu2304=) c.6864T>C (p.Leu2288=) c.6828T>C (p.Leu2276=) c.6825T>C (p.Leu2275=) c.6780T>C (p.Leu2260=) n.7445T>C | |
X | g.77520842A>T | CA517374395 | ATRX | c.7146T>A (p.Leu2382=) c.2244T>A (p.Leu748=) c.7032T>A (p.Leu2344=) c.*6774T>A (n.*6774T>A) n.5466T>A n.377T>A c.7143T>A (p.Leu2381=) c.7059T>A (p.Leu2353=) c.7029T>A (p.Leu2343=) c.6981T>A (p.Leu2327=) c.6942T>A (p.Leu2314=) c.6867T>A (p.Leu2289=) n.8738T>A c.7056T>A (p.Leu2352=) c.7026T>A (p.Leu2342=) c.6978T>A (p.Leu2326=) c.6945T>A (p.Leu2315=) c.6915T>A (p.Leu2305=) c.6912T>A (p.Leu2304=) c.6864T>A (p.Leu2288=) c.6828T>A (p.Leu2276=) c.6825T>A (p.Leu2275=) c.6780T>A (p.Leu2260=) n.7445T>A | |
X | g.77520843A>C | CA413707160 | ATRX | c.7145T>G (p.Leu2382Arg) c.2243T>G (p.Leu748Arg) c.7031T>G (p.Leu2344Arg) c.*6773T>G (n.*6773T>G) n.5465T>G n.376T>G c.7142T>G (p.Leu2381Arg) c.7058T>G (p.Leu2353Arg) c.7028T>G (p.Leu2343Arg) c.6980T>G (p.Leu2327Arg) c.6941T>G (p.Leu2314Arg) c.6866T>G (p.Leu2289Arg) n.8737T>G c.7055T>G (p.Leu2352Arg) c.7025T>G (p.Leu2342Arg) c.6977T>G (p.Leu2326Arg) c.6944T>G (p.Leu2315Arg) c.6914T>G (p.Leu2305Arg) c.6911T>G (p.Leu2304Arg) c.6863T>G (p.Leu2288Arg) c.6827T>G (p.Leu2276Arg) c.6824T>G (p.Leu2275Arg) c.6779T>G (p.Leu2260Arg) n.7444T>G | |
X | g.77520843A>G | CA413707158 | ATRX | c.7145T>C (p.Leu2382Pro) c.2243T>C (p.Leu748Pro) c.7031T>C (p.Leu2344Pro) c.*6773T>C (n.*6773T>C) n.5465T>C n.376T>C c.7142T>C (p.Leu2381Pro) c.7058T>C (p.Leu2353Pro) c.7028T>C (p.Leu2343Pro) c.6980T>C (p.Leu2327Pro) c.6941T>C (p.Leu2314Pro) c.6866T>C (p.Leu2289Pro) n.8737T>C c.7055T>C (p.Leu2352Pro) c.7025T>C (p.Leu2342Pro) c.6977T>C (p.Leu2326Pro) c.6944T>C (p.Leu2315Pro) c.6914T>C (p.Leu2305Pro) c.6911T>C (p.Leu2304Pro) c.6863T>C (p.Leu2288Pro) c.6827T>C (p.Leu2276Pro) c.6824T>C (p.Leu2275Pro) c.6779T>C (p.Leu2260Pro) n.7444T>C | |
X | g.77520843A>T | CA413707156 | ATRX | c.7145T>A (p.Leu2382His) c.2243T>A (p.Leu748His) c.7031T>A (p.Leu2344His) c.*6773T>A (n.*6773T>A) n.5465T>A n.376T>A c.7142T>A (p.Leu2381His) c.7058T>A (p.Leu2353His) c.7028T>A (p.Leu2343His) c.6980T>A (p.Leu2327His) c.6941T>A (p.Leu2314His) c.6866T>A (p.Leu2289His) n.8737T>A c.7055T>A (p.Leu2352His) c.7025T>A (p.Leu2342His) c.6977T>A (p.Leu2326His) c.6944T>A (p.Leu2315His) c.6914T>A (p.Leu2305His) c.6911T>A (p.Leu2304His) c.6863T>A (p.Leu2288His) c.6827T>A (p.Leu2276His) c.6824T>A (p.Leu2275His) c.6779T>A (p.Leu2260His) n.7444T>A | |
X | g.77520844G>A | CA413707162 | ATRX | c.7144C>T (p.Leu2382Phe) c.2242C>T (p.Leu748Phe) c.7030C>T (p.Leu2344Phe) c.*6772C>T (n.*6772C>T) n.5464C>T n.375C>T c.7141C>T (p.Leu2381Phe) c.7057C>T (p.Leu2353Phe) c.7027C>T (p.Leu2343Phe) c.6979C>T (p.Leu2327Phe) c.6940C>T (p.Leu2314Phe) c.6865C>T (p.Leu2289Phe) n.8736C>T c.7054C>T (p.Leu2352Phe) c.7024C>T (p.Leu2342Phe) c.6976C>T (p.Leu2326Phe) c.6943C>T (p.Leu2315Phe) c.6913C>T (p.Leu2305Phe) c.6910C>T (p.Leu2304Phe) c.6862C>T (p.Leu2288Phe) c.6826C>T (p.Leu2276Phe) c.6823C>T (p.Leu2275Phe) c.6778C>T (p.Leu2260Phe) n.7443C>T | gnomAD v4 |
X | g.77520844G>C | CA413707163 | ATRX | c.7144C>G (p.Leu2382Val) c.2242C>G (p.Leu748Val) c.7030C>G (p.Leu2344Val) c.*6772C>G (n.*6772C>G) n.5464C>G n.375C>G c.7141C>G (p.Leu2381Val) c.7057C>G (p.Leu2353Val) c.7027C>G (p.Leu2343Val) c.6979C>G (p.Leu2327Val) c.6940C>G (p.Leu2314Val) c.6865C>G (p.Leu2289Val) n.8736C>G c.7054C>G (p.Leu2352Val) c.7024C>G (p.Leu2342Val) c.6976C>G (p.Leu2326Val) c.6943C>G (p.Leu2315Val) c.6913C>G (p.Leu2305Val) c.6910C>G (p.Leu2304Val) c.6862C>G (p.Leu2288Val) c.6826C>G (p.Leu2276Val) c.6823C>G (p.Leu2275Val) c.6778C>G (p.Leu2260Val) n.7443C>G | |
X | g.77520844G>T | CA413707165 | ATRX | c.7144C>A (p.Leu2382Ile) c.2242C>A (p.Leu748Ile) c.7030C>A (p.Leu2344Ile) c.*6772C>A (n.*6772C>A) n.5464C>A n.375C>A c.7141C>A (p.Leu2381Ile) c.7057C>A (p.Leu2353Ile) c.7027C>A (p.Leu2343Ile) c.6979C>A (p.Leu2327Ile) c.6940C>A (p.Leu2314Ile) c.6865C>A (p.Leu2289Ile) n.8736C>A c.7054C>A (p.Leu2352Ile) c.7024C>A (p.Leu2342Ile) c.6976C>A (p.Leu2326Ile) c.6943C>A (p.Leu2315Ile) c.6913C>A (p.Leu2305Ile) c.6910C>A (p.Leu2304Ile) c.6862C>A (p.Leu2288Ile) c.6826C>A (p.Leu2276Ile) c.6823C>A (p.Leu2275Ile) c.6778C>A (p.Leu2260Ile) n.7443C>A | |
X | g.77520845C>A | CA413707167 | ATRX | c.7143G>T (p.Glu2381Asp) c.2241G>T (p.Glu747Asp) c.7029G>T (p.Glu2343Asp) c.*6771G>T (n.*6771G>T) n.5463G>T n.374G>T c.7140G>T (p.Glu2380Asp) c.7056G>T (p.Glu2352Asp) c.7026G>T (p.Glu2342Asp) c.6978G>T (p.Glu2326Asp) c.6939G>T (p.Glu2313Asp) c.6864G>T (p.Glu2288Asp) n.8735G>T c.7053G>T (p.Glu2351Asp) c.7023G>T (p.Glu2341Asp) c.6975G>T (p.Glu2325Asp) c.6942G>T (p.Glu2314Asp) c.6912G>T (p.Glu2304Asp) c.6909G>T (p.Glu2303Asp) c.6861G>T (p.Glu2287Asp) c.6825G>T (p.Glu2275Asp) c.6822G>T (p.Glu2274Asp) c.6777G>T (p.Glu2259Asp) n.7442G>T | |
X | g.77520845C>G | CA413707169 | ATRX | c.7143G>C (p.Glu2381Asp) c.2241G>C (p.Glu747Asp) c.7029G>C (p.Glu2343Asp) c.*6771G>C (n.*6771G>C) n.5463G>C n.374G>C c.7140G>C (p.Glu2380Asp) c.7056G>C (p.Glu2352Asp) c.7026G>C (p.Glu2342Asp) c.6978G>C (p.Glu2326Asp) c.6939G>C (p.Glu2313Asp) c.6864G>C (p.Glu2288Asp) n.8735G>C c.7053G>C (p.Glu2351Asp) c.7023G>C (p.Glu2341Asp) c.6975G>C (p.Glu2325Asp) c.6942G>C (p.Glu2314Asp) c.6912G>C (p.Glu2304Asp) c.6909G>C (p.Glu2303Asp) c.6861G>C (p.Glu2287Asp) c.6825G>C (p.Glu2275Asp) c.6822G>C (p.Glu2274Asp) c.6777G>C (p.Glu2259Asp) n.7442G>C | |
X | g.77520845C>T | CA517374396 | ATRX | c.7143G>A (p.Glu2381=) c.2241G>A (p.Glu747=) c.7029G>A (p.Glu2343=) c.*6771G>A (n.*6771G>A) n.5463G>A n.374G>A c.7140G>A (p.Glu2380=) c.7056G>A (p.Glu2352=) c.7026G>A (p.Glu2342=) c.6978G>A (p.Glu2326=) c.6939G>A (p.Glu2313=) c.6864G>A (p.Glu2288=) n.8735G>A c.7053G>A (p.Glu2351=) c.7023G>A (p.Glu2341=) c.6975G>A (p.Glu2325=) c.6942G>A (p.Glu2314=) c.6912G>A (p.Glu2304=) c.6909G>A (p.Glu2303=) c.6861G>A (p.Glu2287=) c.6825G>A (p.Glu2275=) c.6822G>A (p.Glu2274=) c.6777G>A (p.Glu2259=) n.7442G>A | ClinVar dbSNP COSMIC COSMIC |
X | g.77520846T>A | CA413707172 | ATRX | c.7142A>T (p.Glu2381Val) c.2240A>T (p.Glu747Val) c.7028A>T (p.Glu2343Val) c.*6770A>T (n.*6770A>T) n.5462A>T n.373A>T c.7139A>T (p.Glu2380Val) c.7055A>T (p.Glu2352Val) c.7025A>T (p.Glu2342Val) c.6977A>T (p.Glu2326Val) c.6938A>T (p.Glu2313Val) c.6863A>T (p.Glu2288Val) n.8734A>T c.7052A>T (p.Glu2351Val) c.7022A>T (p.Glu2341Val) c.6974A>T (p.Glu2325Val) c.6941A>T (p.Glu2314Val) c.6911A>T (p.Glu2304Val) c.6908A>T (p.Glu2303Val) c.6860A>T (p.Glu2287Val) c.6824A>T (p.Glu2275Val) c.6821A>T (p.Glu2274Val) c.6776A>T (p.Glu2259Val) n.7441A>T | |
X | g.77520846T>C | CA413707173 | ATRX | c.7142A>G (p.Glu2381Gly) c.2240A>G (p.Glu747Gly) c.7028A>G (p.Glu2343Gly) c.*6770A>G (n.*6770A>G) n.5462A>G n.373A>G c.7139A>G (p.Glu2380Gly) c.7055A>G (p.Glu2352Gly) c.7025A>G (p.Glu2342Gly) c.6977A>G (p.Glu2326Gly) c.6938A>G (p.Glu2313Gly) c.6863A>G (p.Glu2288Gly) n.8734A>G c.7052A>G (p.Glu2351Gly) c.7022A>G (p.Glu2341Gly) c.6974A>G (p.Glu2325Gly) c.6941A>G (p.Glu2314Gly) c.6911A>G (p.Glu2304Gly) c.6908A>G (p.Glu2303Gly) c.6860A>G (p.Glu2287Gly) c.6824A>G (p.Glu2275Gly) c.6821A>G (p.Glu2274Gly) c.6776A>G (p.Glu2259Gly) n.7441A>G | |
X | g.77520846T>G | CA413707174 | ATRX | c.7142A>C (p.Glu2381Ala) c.2240A>C (p.Glu747Ala) c.7028A>C (p.Glu2343Ala) c.*6770A>C (n.*6770A>C) n.5462A>C n.373A>C c.7139A>C (p.Glu2380Ala) c.7055A>C (p.Glu2352Ala) c.7025A>C (p.Glu2342Ala) c.6977A>C (p.Glu2326Ala) c.6938A>C (p.Glu2313Ala) c.6863A>C (p.Glu2288Ala) n.8734A>C c.7052A>C (p.Glu2351Ala) c.7022A>C (p.Glu2341Ala) c.6974A>C (p.Glu2325Ala) c.6941A>C (p.Glu2314Ala) c.6911A>C (p.Glu2304Ala) c.6908A>C (p.Glu2303Ala) c.6860A>C (p.Glu2287Ala) c.6824A>C (p.Glu2275Ala) c.6821A>C (p.Glu2274Ala) c.6776A>C (p.Glu2259Ala) n.7441A>C | |
X | g.77520847C>A | CA413707176 | ATRX | c.7141G>T (p.Glu2381Ter) c.2239G>T (p.Glu747Ter) c.7027G>T (p.Glu2343Ter) c.*6769G>T (n.*6769G>T) n.5461G>T n.372G>T c.7138G>T (p.Glu2380Ter) c.7054G>T (p.Glu2352Ter) c.7024G>T (p.Glu2342Ter) c.6976G>T (p.Glu2326Ter) c.6937G>T (p.Glu2313Ter) c.6862G>T (p.Glu2288Ter) n.8733G>T c.7051G>T (p.Glu2351Ter) c.7021G>T (p.Glu2341Ter) c.6973G>T (p.Glu2325Ter) c.6940G>T (p.Glu2314Ter) c.6910G>T (p.Glu2304Ter) c.6907G>T (p.Glu2303Ter) c.6859G>T (p.Glu2287Ter) c.6823G>T (p.Glu2275Ter) c.6820G>T (p.Glu2274Ter) c.6775G>T (p.Glu2259Ter) n.7440G>T | ClinVar dbSNP |
X | g.77520847C= | CA2438933067 | ATRX | c.7141G= (p.Glu2381=) c.2239G= (p.Glu747=) c.7027G= (p.Glu2343=) c.*6769G= (n.*6769G=) n.5461G= n.372G= c.7138G= (p.Glu2380=) c.7054G= (p.Glu2352=) c.7024G= (p.Glu2342=) c.6976G= (p.Glu2326=) c.6937G= (p.Glu2313=) c.6862G= (p.Glu2288=) n.8733G= c.7051G= (p.Glu2351=) c.7021G= (p.Glu2341=) c.6973G= (p.Glu2325=) c.6940G= (p.Glu2314=) c.6910G= (p.Glu2304=) c.6907G= (p.Glu2303=) c.6859G= (p.Glu2287=) c.6823G= (p.Glu2275=) c.6820G= (p.Glu2274=) c.6775G= (p.Glu2259=) n.7440G= | |
X | g.77520847C>G | CA413707178 | ATRX | c.7141G>C (p.Glu2381Gln) c.2239G>C (p.Glu747Gln) c.7027G>C (p.Glu2343Gln) c.*6769G>C (n.*6769G>C) n.5461G>C n.372G>C c.7138G>C (p.Glu2380Gln) c.7054G>C (p.Glu2352Gln) c.7024G>C (p.Glu2342Gln) c.6976G>C (p.Glu2326Gln) c.6937G>C (p.Glu2313Gln) c.6862G>C (p.Glu2288Gln) n.8733G>C c.7051G>C (p.Glu2351Gln) c.7021G>C (p.Glu2341Gln) c.6973G>C (p.Glu2325Gln) c.6940G>C (p.Glu2314Gln) c.6910G>C (p.Glu2304Gln) c.6907G>C (p.Glu2303Gln) c.6859G>C (p.Glu2287Gln) c.6823G>C (p.Glu2275Gln) c.6820G>C (p.Glu2274Gln) c.6775G>C (p.Glu2259Gln) n.7440G>C | |
X | g.77520847C>T | CA413707180 | ATRX | c.7141G>A (p.Glu2381Lys) c.2239G>A (p.Glu747Lys) c.7027G>A (p.Glu2343Lys) c.*6769G>A (n.*6769G>A) n.5461G>A n.372G>A c.7138G>A (p.Glu2380Lys) c.7054G>A (p.Glu2352Lys) c.7024G>A (p.Glu2342Lys) c.6976G>A (p.Glu2326Lys) c.6937G>A (p.Glu2313Lys) c.6862G>A (p.Glu2288Lys) n.8733G>A c.7051G>A (p.Glu2351Lys) c.7021G>A (p.Glu2341Lys) c.6973G>A (p.Glu2325Lys) c.6940G>A (p.Glu2314Lys) c.6910G>A (p.Glu2304Lys) c.6907G>A (p.Glu2303Lys) c.6859G>A (p.Glu2287Lys) c.6823G>A (p.Glu2275Lys) c.6820G>A (p.Glu2274Lys) c.6775G>A (p.Glu2259Lys) n.7440G>A | ClinVar dbSNP |
X | g.77520848C>A | CA413707182 | ATRX | c.7140G>T (p.Gln2380His) c.2238G>T (p.Gln746His) c.7026G>T (p.Gln2342His) c.*6768G>T (n.*6768G>T) n.5460G>T n.371G>T c.7137G>T (p.Gln2379His) c.7053G>T (p.Gln2351His) c.7023G>T (p.Gln2341His) c.6975G>T (p.Gln2325His) c.6936G>T (p.Gln2312His) c.6861G>T (p.Gln2287His) n.8732G>T c.7050G>T (p.Gln2350His) c.7020G>T (p.Gln2340His) c.6972G>T (p.Gln2324His) c.6939G>T (p.Gln2313His) c.6909G>T (p.Gln2303His) c.6906G>T (p.Gln2302His) c.6858G>T (p.Gln2286His) c.6822G>T (p.Gln2274His) c.6819G>T (p.Gln2273His) c.6774G>T (p.Gln2258His) n.7439G>T | |
X | g.77520848C>G | CA413707184 | ATRX | c.7140G>C (p.Gln2380His) c.2238G>C (p.Gln746His) c.7026G>C (p.Gln2342His) c.*6768G>C (n.*6768G>C) n.5460G>C n.371G>C c.7137G>C (p.Gln2379His) c.7053G>C (p.Gln2351His) c.7023G>C (p.Gln2341His) c.6975G>C (p.Gln2325His) c.6936G>C (p.Gln2312His) c.6861G>C (p.Gln2287His) n.8732G>C c.7050G>C (p.Gln2350His) c.7020G>C (p.Gln2340His) c.6972G>C (p.Gln2324His) c.6939G>C (p.Gln2313His) c.6909G>C (p.Gln2303His) c.6906G>C (p.Gln2302His) c.6858G>C (p.Gln2286His) c.6822G>C (p.Gln2274His) c.6819G>C (p.Gln2273His) c.6774G>C (p.Gln2258His) n.7439G>C | |
X | g.77520848C>T | CA517374398 | ATRX | c.7140G>A (p.Gln2380=) c.2238G>A (p.Gln746=) c.7026G>A (p.Gln2342=) c.*6768G>A (n.*6768G>A) n.5460G>A n.371G>A c.7137G>A (p.Gln2379=) c.7053G>A (p.Gln2351=) c.7023G>A (p.Gln2341=) c.6975G>A (p.Gln2325=) c.6936G>A (p.Gln2312=) c.6861G>A (p.Gln2287=) n.8732G>A c.7050G>A (p.Gln2350=) c.7020G>A (p.Gln2340=) c.6972G>A (p.Gln2324=) c.6939G>A (p.Gln2313=) c.6909G>A (p.Gln2303=) c.6906G>A (p.Gln2302=) c.6858G>A (p.Gln2286=) c.6822G>A (p.Gln2274=) c.6819G>A (p.Gln2273=) c.6774G>A (p.Gln2258=) n.7439G>A | |
X | g.77520849T>A | CA413707190 | ATRX | c.7139A>T (p.Gln2380Leu) c.2237A>T (p.Gln746Leu) c.7025A>T (p.Gln2342Leu) c.*6767A>T (n.*6767A>T) n.5459A>T n.370A>T c.7136A>T (p.Gln2379Leu) c.7052A>T (p.Gln2351Leu) c.7022A>T (p.Gln2341Leu) c.6974A>T (p.Gln2325Leu) c.6935A>T (p.Gln2312Leu) c.6860A>T (p.Gln2287Leu) n.8731A>T c.7049A>T (p.Gln2350Leu) c.7019A>T (p.Gln2340Leu) c.6971A>T (p.Gln2324Leu) c.6938A>T (p.Gln2313Leu) c.6908A>T (p.Gln2303Leu) c.6905A>T (p.Gln2302Leu) c.6857A>T (p.Gln2286Leu) c.6821A>T (p.Gln2274Leu) c.6818A>T (p.Gln2273Leu) c.6773A>T (p.Gln2258Leu) n.7438A>T | ClinVar gnomAD v4 |
X | g.77520849T>C | CA413707188 | ATRX | c.7139A>G (p.Gln2380Arg) c.2237A>G (p.Gln746Arg) c.7025A>G (p.Gln2342Arg) c.*6767A>G (n.*6767A>G) n.5459A>G n.370A>G c.7136A>G (p.Gln2379Arg) c.7052A>G (p.Gln2351Arg) c.7022A>G (p.Gln2341Arg) c.6974A>G (p.Gln2325Arg) c.6935A>G (p.Gln2312Arg) c.6860A>G (p.Gln2287Arg) n.8731A>G c.7049A>G (p.Gln2350Arg) c.7019A>G (p.Gln2340Arg) c.6971A>G (p.Gln2324Arg) c.6938A>G (p.Gln2313Arg) c.6908A>G (p.Gln2303Arg) c.6905A>G (p.Gln2302Arg) c.6857A>G (p.Gln2286Arg) c.6821A>G (p.Gln2274Arg) c.6818A>G (p.Gln2273Arg) c.6773A>G (p.Gln2258Arg) n.7438A>G | |
X | g.77520849T>G | CA413707186 | ATRX | c.7139A>C (p.Gln2380Pro) c.2237A>C (p.Gln746Pro) c.7025A>C (p.Gln2342Pro) c.*6767A>C (n.*6767A>C) n.5459A>C n.370A>C c.7136A>C (p.Gln2379Pro) c.7052A>C (p.Gln2351Pro) c.7022A>C (p.Gln2341Pro) c.6974A>C (p.Gln2325Pro) c.6935A>C (p.Gln2312Pro) c.6860A>C (p.Gln2287Pro) n.8731A>C c.7049A>C (p.Gln2350Pro) c.7019A>C (p.Gln2340Pro) c.6971A>C (p.Gln2324Pro) c.6938A>C (p.Gln2313Pro) c.6908A>C (p.Gln2303Pro) c.6905A>C (p.Gln2302Pro) c.6857A>C (p.Gln2286Pro) c.6821A>C (p.Gln2274Pro) c.6818A>C (p.Gln2273Pro) c.6773A>C (p.Gln2258Pro) n.7438A>C | |
X | g.77520850G>A | CA413707192 | ATRX | c.7138C>T (p.Gln2380Ter) c.2236C>T (p.Gln746Ter) c.7024C>T (p.Gln2342Ter) c.*6766C>T (n.*6766C>T) n.5458C>T n.369C>T c.7135C>T (p.Gln2379Ter) c.7051C>T (p.Gln2351Ter) c.7021C>T (p.Gln2341Ter) c.6973C>T (p.Gln2325Ter) c.6934C>T (p.Gln2312Ter) c.6859C>T (p.Gln2287Ter) n.8730C>T c.7048C>T (p.Gln2350Ter) c.7018C>T (p.Gln2340Ter) c.6970C>T (p.Gln2324Ter) c.6937C>T (p.Gln2313Ter) c.6907C>T (p.Gln2303Ter) c.6904C>T (p.Gln2302Ter) c.6856C>T (p.Gln2286Ter) c.6820C>T (p.Gln2274Ter) c.6817C>T (p.Gln2273Ter) c.6772C>T (p.Gln2258Ter) n.7437C>T | |
X | g.77520850G>C | CA413707191 | ATRX | c.7138C>G (p.Gln2380Glu) c.2236C>G (p.Gln746Glu) c.7024C>G (p.Gln2342Glu) c.*6766C>G (n.*6766C>G) n.5458C>G n.369C>G c.7135C>G (p.Gln2379Glu) c.7051C>G (p.Gln2351Glu) c.7021C>G (p.Gln2341Glu) c.6973C>G (p.Gln2325Glu) c.6934C>G (p.Gln2312Glu) c.6859C>G (p.Gln2287Glu) n.8730C>G c.7048C>G (p.Gln2350Glu) c.7018C>G (p.Gln2340Glu) c.6970C>G (p.Gln2324Glu) c.6937C>G (p.Gln2313Glu) c.6907C>G (p.Gln2303Glu) c.6904C>G (p.Gln2302Glu) c.6856C>G (p.Gln2286Glu) c.6820C>G (p.Gln2274Glu) c.6817C>G (p.Gln2273Glu) c.6772C>G (p.Gln2258Glu) n.7437C>G | |
X | g.77520850G>T | CA413707194 | ATRX | c.7138C>A (p.Gln2380Lys) c.2236C>A (p.Gln746Lys) c.7024C>A (p.Gln2342Lys) c.*6766C>A (n.*6766C>A) n.5458C>A n.369C>A c.7135C>A (p.Gln2379Lys) c.7051C>A (p.Gln2351Lys) c.7021C>A (p.Gln2341Lys) c.6973C>A (p.Gln2325Lys) c.6934C>A (p.Gln2312Lys) c.6859C>A (p.Gln2287Lys) n.8730C>A c.7048C>A (p.Gln2350Lys) c.7018C>A (p.Gln2340Lys) c.6970C>A (p.Gln2324Lys) c.6937C>A (p.Gln2313Lys) c.6907C>A (p.Gln2303Lys) c.6904C>A (p.Gln2302Lys) c.6856C>A (p.Gln2286Lys) c.6820C>A (p.Gln2274Lys) c.6817C>A (p.Gln2273Lys) c.6772C>A (p.Gln2258Lys) n.7437C>A | |
X | g.77520851G>A | CA517374399 | ATRX | c.7137C>T (p.Ser2379=) c.2235C>T (p.Ser745=) c.7023C>T (p.Ser2341=) c.*6765C>T (n.*6765C>T) n.5457C>T n.368C>T c.7134C>T (p.Ser2378=) c.7050C>T (p.Ser2350=) c.7020C>T (p.Ser2340=) c.6972C>T (p.Ser2324=) c.6933C>T (p.Ser2311=) c.6858C>T (p.Ser2286=) n.8729C>T c.7047C>T (p.Ser2349=) c.7017C>T (p.Ser2339=) c.6969C>T (p.Ser2323=) c.6936C>T (p.Ser2312=) c.6906C>T (p.Ser2302=) c.6903C>T (p.Ser2301=) c.6855C>T (p.Ser2285=) c.6819C>T (p.Ser2273=) c.6816C>T (p.Ser2272=) c.6771C>T (p.Ser2257=) n.7436C>T | dbSNP |
X | g.77520851G>C | CA413707196 | ATRX | c.7137C>G (p.Ser2379Arg) c.2235C>G (p.Ser745Arg) c.7023C>G (p.Ser2341Arg) c.*6765C>G (n.*6765C>G) n.5457C>G n.368C>G c.7134C>G (p.Ser2378Arg) c.7050C>G (p.Ser2350Arg) c.7020C>G (p.Ser2340Arg) c.6972C>G (p.Ser2324Arg) c.6933C>G (p.Ser2311Arg) c.6858C>G (p.Ser2286Arg) n.8729C>G c.7047C>G (p.Ser2349Arg) c.7017C>G (p.Ser2339Arg) c.6969C>G (p.Ser2323Arg) c.6936C>G (p.Ser2312Arg) c.6906C>G (p.Ser2302Arg) c.6903C>G (p.Ser2301Arg) c.6855C>G (p.Ser2285Arg) c.6819C>G (p.Ser2273Arg) c.6816C>G (p.Ser2272Arg) c.6771C>G (p.Ser2257Arg) n.7436C>G | |
X | g.77520851G= | CA2438933068 | ATRX | c.7137C= (p.Ser2379=) c.2235C= (p.Ser745=) c.7023C= (p.Ser2341=) c.*6765C= (n.*6765C=) n.5457C= n.368C= c.7134C= (p.Ser2378=) c.7050C= (p.Ser2350=) c.7020C= (p.Ser2340=) c.6972C= (p.Ser2324=) c.6933C= (p.Ser2311=) c.6858C= (p.Ser2286=) n.8729C= c.7047C= (p.Ser2349=) c.7017C= (p.Ser2339=) c.6969C= (p.Ser2323=) c.6936C= (p.Ser2312=) c.6906C= (p.Ser2302=) c.6903C= (p.Ser2301=) c.6855C= (p.Ser2285=) c.6819C= (p.Ser2273=) c.6816C= (p.Ser2272=) c.6771C= (p.Ser2257=) n.7436C= | |
X | g.77520851G>T | CA413707198 | ATRX | c.7137C>A (p.Ser2379Arg) c.2235C>A (p.Ser745Arg) c.7023C>A (p.Ser2341Arg) c.*6765C>A (n.*6765C>A) n.5457C>A n.368C>A c.7134C>A (p.Ser2378Arg) c.7050C>A (p.Ser2350Arg) c.7020C>A (p.Ser2340Arg) c.6972C>A (p.Ser2324Arg) c.6933C>A (p.Ser2311Arg) c.6858C>A (p.Ser2286Arg) n.8729C>A c.7047C>A (p.Ser2349Arg) c.7017C>A (p.Ser2339Arg) c.6969C>A (p.Ser2323Arg) c.6936C>A (p.Ser2312Arg) c.6906C>A (p.Ser2302Arg) c.6903C>A (p.Ser2301Arg) c.6855C>A (p.Ser2285Arg) c.6819C>A (p.Ser2273Arg) c.6816C>A (p.Ser2272Arg) c.6771C>A (p.Ser2257Arg) n.7436C>A | dbSNP gnomAD v2 gnomAD v4 |
X | g.77520852C>A | CA413707201 | ATRX | c.7136G>T (p.Ser2379Ile) c.2234G>T (p.Ser745Ile) c.7022G>T (p.Ser2341Ile) c.*6764G>T (n.*6764G>T) n.5456G>T n.367G>T c.7133G>T (p.Ser2378Ile) c.7049G>T (p.Ser2350Ile) c.7019G>T (p.Ser2340Ile) c.6971G>T (p.Ser2324Ile) c.6932G>T (p.Ser2311Ile) c.6857G>T (p.Ser2286Ile) n.8728G>T c.7046G>T (p.Ser2349Ile) c.7016G>T (p.Ser2339Ile) c.6968G>T (p.Ser2323Ile) c.6935G>T (p.Ser2312Ile) c.6905G>T (p.Ser2302Ile) c.6902G>T (p.Ser2301Ile) c.6854G>T (p.Ser2285Ile) c.6818G>T (p.Ser2273Ile) c.6815G>T (p.Ser2272Ile) c.6770G>T (p.Ser2257Ile) n.7435G>T | |
X | g.77520852C>G | CA413707202 | ATRX | c.7136G>C (p.Ser2379Thr) c.2234G>C (p.Ser745Thr) c.7022G>C (p.Ser2341Thr) c.*6764G>C (n.*6764G>C) n.5456G>C n.367G>C c.7133G>C (p.Ser2378Thr) c.7049G>C (p.Ser2350Thr) c.7019G>C (p.Ser2340Thr) c.6971G>C (p.Ser2324Thr) c.6932G>C (p.Ser2311Thr) c.6857G>C (p.Ser2286Thr) n.8728G>C c.7046G>C (p.Ser2349Thr) c.7016G>C (p.Ser2339Thr) c.6968G>C (p.Ser2323Thr) c.6935G>C (p.Ser2312Thr) c.6905G>C (p.Ser2302Thr) c.6902G>C (p.Ser2301Thr) c.6854G>C (p.Ser2285Thr) c.6818G>C (p.Ser2273Thr) c.6815G>C (p.Ser2272Thr) c.6770G>C (p.Ser2257Thr) n.7435G>C | |
X | g.77520852C>T | CA413707203 | ATRX | c.7136G>A (p.Ser2379Asn) c.2234G>A (p.Ser745Asn) c.7022G>A (p.Ser2341Asn) c.*6764G>A (n.*6764G>A) n.5456G>A n.367G>A c.7133G>A (p.Ser2378Asn) c.7049G>A (p.Ser2350Asn) c.7019G>A (p.Ser2340Asn) c.6971G>A (p.Ser2324Asn) c.6932G>A (p.Ser2311Asn) c.6857G>A (p.Ser2286Asn) n.8728G>A c.7046G>A (p.Ser2349Asn) c.7016G>A (p.Ser2339Asn) c.6968G>A (p.Ser2323Asn) c.6935G>A (p.Ser2312Asn) c.6905G>A (p.Ser2302Asn) c.6902G>A (p.Ser2301Asn) c.6854G>A (p.Ser2285Asn) c.6818G>A (p.Ser2273Asn) c.6815G>A (p.Ser2272Asn) c.6770G>A (p.Ser2257Asn) n.7435G>A | |
X | g.77520853T>A | CA413707206 | ATRX | c.7135A>T (p.Ser2379Cys) c.2233A>T (p.Ser745Cys) c.7021A>T (p.Ser2341Cys) c.*6763A>T (n.*6763A>T) n.5455A>T n.366A>T c.7132A>T (p.Ser2378Cys) c.7048A>T (p.Ser2350Cys) c.7018A>T (p.Ser2340Cys) c.6970A>T (p.Ser2324Cys) c.6931A>T (p.Ser2311Cys) c.6856A>T (p.Ser2286Cys) n.8727A>T c.7045A>T (p.Ser2349Cys) c.7015A>T (p.Ser2339Cys) c.6967A>T (p.Ser2323Cys) c.6934A>T (p.Ser2312Cys) c.6904A>T (p.Ser2302Cys) c.6901A>T (p.Ser2301Cys) c.6853A>T (p.Ser2285Cys) c.6817A>T (p.Ser2273Cys) c.6814A>T (p.Ser2272Cys) c.6769A>T (p.Ser2257Cys) n.7434A>T | |
X | g.77520853T>C | CA413707214 | ATRX | c.7135A>G (p.Ser2379Gly) c.2233A>G (p.Ser745Gly) c.7021A>G (p.Ser2341Gly) c.*6763A>G (n.*6763A>G) n.5455A>G n.366A>G c.7132A>G (p.Ser2378Gly) c.7048A>G (p.Ser2350Gly) c.7018A>G (p.Ser2340Gly) c.6970A>G (p.Ser2324Gly) c.6931A>G (p.Ser2311Gly) c.6856A>G (p.Ser2286Gly) n.8727A>G c.7045A>G (p.Ser2349Gly) c.7015A>G (p.Ser2339Gly) c.6967A>G (p.Ser2323Gly) c.6934A>G (p.Ser2312Gly) c.6904A>G (p.Ser2302Gly) c.6901A>G (p.Ser2301Gly) c.6853A>G (p.Ser2285Gly) c.6817A>G (p.Ser2273Gly) c.6814A>G (p.Ser2272Gly) c.6769A>G (p.Ser2257Gly) n.7434A>G | |
X | g.77520853T>G | CA413707216 | ATRX | c.7135A>C (p.Ser2379Arg) c.2233A>C (p.Ser745Arg) c.7021A>C (p.Ser2341Arg) c.*6763A>C (n.*6763A>C) n.5455A>C n.366A>C c.7132A>C (p.Ser2378Arg) c.7048A>C (p.Ser2350Arg) c.7018A>C (p.Ser2340Arg) c.6970A>C (p.Ser2324Arg) c.6931A>C (p.Ser2311Arg) c.6856A>C (p.Ser2286Arg) n.8727A>C c.7045A>C (p.Ser2349Arg) c.7015A>C (p.Ser2339Arg) c.6967A>C (p.Ser2323Arg) c.6934A>C (p.Ser2312Arg) c.6904A>C (p.Ser2302Arg) c.6901A>C (p.Ser2301Arg) c.6853A>C (p.Ser2285Arg) c.6817A>C (p.Ser2273Arg) c.6814A>C (p.Ser2272Arg) c.6769A>C (p.Ser2257Arg) n.7434A>C | |
X | g.77520854G>A | CA517374400 | ATRX | c.7134C>T (p.Ala2378=) c.2232C>T (p.Ala744=) c.7020C>T (p.Ala2340=) c.*6762C>T (n.*6762C>T) n.5454C>T n.365C>T c.7131C>T (p.Ala2377=) c.7047C>T (p.Ala2349=) c.7017C>T (p.Ala2339=) c.6969C>T (p.Ala2323=) c.6930C>T (p.Ala2310=) c.6855C>T (p.Ala2285=) n.8726C>T c.7044C>T (p.Ala2348=) c.7014C>T (p.Ala2338=) c.6966C>T (p.Ala2322=) c.6933C>T (p.Ala2311=) c.6903C>T (p.Ala2301=) c.6900C>T (p.Ala2300=) c.6852C>T (p.Ala2284=) c.6816C>T (p.Ala2272=) c.6813C>T (p.Ala2271=) c.6768C>T (p.Ala2256=) n.7433C>T | |
X | g.77520854G>C | CA517374402 | ATRX | c.7134C>G (p.Ala2378=) c.2232C>G (p.Ala744=) c.7020C>G (p.Ala2340=) c.*6762C>G (n.*6762C>G) n.5454C>G n.365C>G c.7131C>G (p.Ala2377=) c.7047C>G (p.Ala2349=) c.7017C>G (p.Ala2339=) c.6969C>G (p.Ala2323=) c.6930C>G (p.Ala2310=) c.6855C>G (p.Ala2285=) n.8726C>G c.7044C>G (p.Ala2348=) c.7014C>G (p.Ala2338=) c.6966C>G (p.Ala2322=) c.6933C>G (p.Ala2311=) c.6903C>G (p.Ala2301=) c.6900C>G (p.Ala2300=) c.6852C>G (p.Ala2284=) c.6816C>G (p.Ala2272=) c.6813C>G (p.Ala2271=) c.6768C>G (p.Ala2256=) n.7433C>G | |
X | g.77520854G>T | CA517374401 | ATRX | c.7134C>A (p.Ala2378=) c.2232C>A (p.Ala744=) c.7020C>A (p.Ala2340=) c.*6762C>A (n.*6762C>A) n.5454C>A n.365C>A c.7131C>A (p.Ala2377=) c.7047C>A (p.Ala2349=) c.7017C>A (p.Ala2339=) c.6969C>A (p.Ala2323=) c.6930C>A (p.Ala2310=) c.6855C>A (p.Ala2285=) n.8726C>A c.7044C>A (p.Ala2348=) c.7014C>A (p.Ala2338=) c.6966C>A (p.Ala2322=) c.6933C>A (p.Ala2311=) c.6903C>A (p.Ala2301=) c.6900C>A (p.Ala2300=) c.6852C>A (p.Ala2284=) c.6816C>A (p.Ala2272=) c.6813C>A (p.Ala2271=) c.6768C>A (p.Ala2256=) n.7433C>A | |
X | g.77520855G>A | CA413707218 | ATRX | c.7133C>T (p.Ala2378Val) c.2231C>T (p.Ala744Val) c.7019C>T (p.Ala2340Val) c.*6761C>T (n.*6761C>T) n.5453C>T n.364C>T c.7130C>T (p.Ala2377Val) c.7046C>T (p.Ala2349Val) c.7016C>T (p.Ala2339Val) c.6968C>T (p.Ala2323Val) c.6929C>T (p.Ala2310Val) c.6854C>T (p.Ala2285Val) n.8725C>T c.7043C>T (p.Ala2348Val) c.7013C>T (p.Ala2338Val) c.6965C>T (p.Ala2322Val) c.6932C>T (p.Ala2311Val) c.6902C>T (p.Ala2301Val) c.6899C>T (p.Ala2300Val) c.6851C>T (p.Ala2284Val) c.6815C>T (p.Ala2272Val) c.6812C>T (p.Ala2271Val) c.6767C>T (p.Ala2256Val) n.7432C>T | |
X | g.77520855G>C | CA413707220 | ATRX | c.7133C>G (p.Ala2378Gly) c.2231C>G (p.Ala744Gly) c.7019C>G (p.Ala2340Gly) c.*6761C>G (n.*6761C>G) n.5453C>G n.364C>G c.7130C>G (p.Ala2377Gly) c.7046C>G (p.Ala2349Gly) c.7016C>G (p.Ala2339Gly) c.6968C>G (p.Ala2323Gly) c.6929C>G (p.Ala2310Gly) c.6854C>G (p.Ala2285Gly) n.8725C>G c.7043C>G (p.Ala2348Gly) c.7013C>G (p.Ala2338Gly) c.6965C>G (p.Ala2322Gly) c.6932C>G (p.Ala2311Gly) c.6902C>G (p.Ala2301Gly) c.6899C>G (p.Ala2300Gly) c.6851C>G (p.Ala2284Gly) c.6815C>G (p.Ala2272Gly) c.6812C>G (p.Ala2271Gly) c.6767C>G (p.Ala2256Gly) n.7432C>G | |
X | g.77520855G>T | CA413707222 | ATRX | c.7133C>A (p.Ala2378Asp) c.2231C>A (p.Ala744Asp) c.7019C>A (p.Ala2340Asp) c.*6761C>A (n.*6761C>A) n.5453C>A n.364C>A c.7130C>A (p.Ala2377Asp) c.7046C>A (p.Ala2349Asp) c.7016C>A (p.Ala2339Asp) c.6968C>A (p.Ala2323Asp) c.6929C>A (p.Ala2310Asp) c.6854C>A (p.Ala2285Asp) n.8725C>A c.7043C>A (p.Ala2348Asp) c.7013C>A (p.Ala2338Asp) c.6965C>A (p.Ala2322Asp) c.6932C>A (p.Ala2311Asp) c.6902C>A (p.Ala2301Asp) c.6899C>A (p.Ala2300Asp) c.6851C>A (p.Ala2284Asp) c.6815C>A (p.Ala2272Asp) c.6812C>A (p.Ala2271Asp) c.6767C>A (p.Ala2256Asp) n.7432C>A | |
X | g.77520856C>A | CA413707227 | ATRX | c.7132G>T (p.Ala2378Ser) c.2230G>T (p.Ala744Ser) c.7018G>T (p.Ala2340Ser) c.*6760G>T (n.*6760G>T) n.5452G>T n.363G>T c.7129G>T (p.Ala2377Ser) c.7045G>T (p.Ala2349Ser) c.7015G>T (p.Ala2339Ser) c.6967G>T (p.Ala2323Ser) c.6928G>T (p.Ala2310Ser) c.6853G>T (p.Ala2285Ser) n.8724G>T c.7042G>T (p.Ala2348Ser) c.7012G>T (p.Ala2338Ser) c.6964G>T (p.Ala2322Ser) c.6931G>T (p.Ala2311Ser) c.6901G>T (p.Ala2301Ser) c.6898G>T (p.Ala2300Ser) c.6850G>T (p.Ala2284Ser) c.6814G>T (p.Ala2272Ser) c.6811G>T (p.Ala2271Ser) c.6766G>T (p.Ala2256Ser) n.7431G>T | |
X | g.77520856C>G | CA413707225 | ATRX | c.7132G>C (p.Ala2378Pro) c.2230G>C (p.Ala744Pro) c.7018G>C (p.Ala2340Pro) c.*6760G>C (n.*6760G>C) n.5452G>C n.363G>C c.7129G>C (p.Ala2377Pro) c.7045G>C (p.Ala2349Pro) c.7015G>C (p.Ala2339Pro) c.6967G>C (p.Ala2323Pro) c.6928G>C (p.Ala2310Pro) c.6853G>C (p.Ala2285Pro) n.8724G>C c.7042G>C (p.Ala2348Pro) c.7012G>C (p.Ala2338Pro) c.6964G>C (p.Ala2322Pro) c.6931G>C (p.Ala2311Pro) c.6901G>C (p.Ala2301Pro) c.6898G>C (p.Ala2300Pro) c.6850G>C (p.Ala2284Pro) c.6814G>C (p.Ala2272Pro) c.6811G>C (p.Ala2271Pro) c.6766G>C (p.Ala2256Pro) n.7431G>C | |
X | g.77520856C>T | CA413707224 | ATRX | c.7132G>A (p.Ala2378Thr) c.2230G>A (p.Ala744Thr) c.7018G>A (p.Ala2340Thr) c.*6760G>A (n.*6760G>A) n.5452G>A n.363G>A c.7129G>A (p.Ala2377Thr) c.7045G>A (p.Ala2349Thr) c.7015G>A (p.Ala2339Thr) c.6967G>A (p.Ala2323Thr) c.6928G>A (p.Ala2310Thr) c.6853G>A (p.Ala2285Thr) n.8724G>A c.7042G>A (p.Ala2348Thr) c.7012G>A (p.Ala2338Thr) c.6964G>A (p.Ala2322Thr) c.6931G>A (p.Ala2311Thr) c.6901G>A (p.Ala2301Thr) c.6898G>A (p.Ala2300Thr) c.6850G>A (p.Ala2284Thr) c.6814G>A (p.Ala2272Thr) c.6811G>A (p.Ala2271Thr) c.6766G>A (p.Ala2256Thr) n.7431G>A | |
X | g.77520857T>A | CA413707229 | ATRX | c.7131A>T (p.Gln2377His) c.2229A>T (p.Gln743His) c.7017A>T (p.Gln2339His) c.*6759A>T (n.*6759A>T) n.5451A>T n.362A>T c.7128A>T (p.Gln2376His) c.7044A>T (p.Gln2348His) c.7014A>T (p.Gln2338His) c.6966A>T (p.Gln2322His) c.6927A>T (p.Gln2309His) c.6852A>T (p.Gln2284His) n.8723A>T c.7041A>T (p.Gln2347His) c.7011A>T (p.Gln2337His) c.6963A>T (p.Gln2321His) c.6930A>T (p.Gln2310His) c.6900A>T (p.Gln2300His) c.6897A>T (p.Gln2299His) c.6849A>T (p.Gln2283His) c.6813A>T (p.Gln2271His) c.6810A>T (p.Gln2270His) c.6765A>T (p.Gln2255His) n.7430A>T | |
X | g.77520857T>C | CA517374403 | ATRX | c.7131A>G (p.Gln2377=) c.2229A>G (p.Gln743=) c.7017A>G (p.Gln2339=) c.*6759A>G (n.*6759A>G) n.5451A>G n.362A>G c.7128A>G (p.Gln2376=) c.7044A>G (p.Gln2348=) c.7014A>G (p.Gln2338=) c.6966A>G (p.Gln2322=) c.6927A>G (p.Gln2309=) c.6852A>G (p.Gln2284=) n.8723A>G c.7041A>G (p.Gln2347=) c.7011A>G (p.Gln2337=) c.6963A>G (p.Gln2321=) c.6930A>G (p.Gln2310=) c.6900A>G (p.Gln2300=) c.6897A>G (p.Gln2299=) c.6849A>G (p.Gln2283=) c.6813A>G (p.Gln2271=) c.6810A>G (p.Gln2270=) c.6765A>G (p.Gln2255=) n.7430A>G | |
X | g.77520857T>G | CA413707231 | ATRX | c.7131A>C (p.Gln2377His) c.2229A>C (p.Gln743His) c.7017A>C (p.Gln2339His) c.*6759A>C (n.*6759A>C) n.5451A>C n.362A>C c.7128A>C (p.Gln2376His) c.7044A>C (p.Gln2348His) c.7014A>C (p.Gln2338His) c.6966A>C (p.Gln2322His) c.6927A>C (p.Gln2309His) c.6852A>C (p.Gln2284His) n.8723A>C c.7041A>C (p.Gln2347His) c.7011A>C (p.Gln2337His) c.6963A>C (p.Gln2321His) c.6930A>C (p.Gln2310His) c.6900A>C (p.Gln2300His) c.6897A>C (p.Gln2299His) c.6849A>C (p.Gln2283His) c.6813A>C (p.Gln2271His) c.6810A>C (p.Gln2270His) c.6765A>C (p.Gln2255His) n.7430A>C | |
X | g.77520858T>A | CA413707233 | ATRX | c.7130A>T (p.Gln2377Leu) c.2228A>T (p.Gln743Leu) c.7016A>T (p.Gln2339Leu) c.*6758A>T (n.*6758A>T) n.5450A>T n.361A>T c.7127A>T (p.Gln2376Leu) c.7043A>T (p.Gln2348Leu) c.7013A>T (p.Gln2338Leu) c.6965A>T (p.Gln2322Leu) c.6926A>T (p.Gln2309Leu) c.6851A>T (p.Gln2284Leu) n.8722A>T c.7040A>T (p.Gln2347Leu) c.7010A>T (p.Gln2337Leu) c.6962A>T (p.Gln2321Leu) c.6929A>T (p.Gln2310Leu) c.6899A>T (p.Gln2300Leu) c.6896A>T (p.Gln2299Leu) c.6848A>T (p.Gln2283Leu) c.6812A>T (p.Gln2271Leu) c.6809A>T (p.Gln2270Leu) c.6764A>T (p.Gln2255Leu) n.7429A>T | |
X | g.77520858T>C | CA413707234 | ATRX | c.7130A>G (p.Gln2377Arg) c.2228A>G (p.Gln743Arg) c.7016A>G (p.Gln2339Arg) c.*6758A>G (n.*6758A>G) n.5450A>G n.361A>G c.7127A>G (p.Gln2376Arg) c.7043A>G (p.Gln2348Arg) c.7013A>G (p.Gln2338Arg) c.6965A>G (p.Gln2322Arg) c.6926A>G (p.Gln2309Arg) c.6851A>G (p.Gln2284Arg) n.8722A>G c.7040A>G (p.Gln2347Arg) c.7010A>G (p.Gln2337Arg) c.6962A>G (p.Gln2321Arg) c.6929A>G (p.Gln2310Arg) c.6899A>G (p.Gln2300Arg) c.6896A>G (p.Gln2299Arg) c.6848A>G (p.Gln2283Arg) c.6812A>G (p.Gln2271Arg) c.6809A>G (p.Gln2270Arg) c.6764A>G (p.Gln2255Arg) n.7429A>G | |
X | g.77520858T>G | CA413707236 | ATRX | c.7130A>C (p.Gln2377Pro) c.2228A>C (p.Gln743Pro) c.7016A>C (p.Gln2339Pro) c.*6758A>C (n.*6758A>C) n.5450A>C n.361A>C c.7127A>C (p.Gln2376Pro) c.7043A>C (p.Gln2348Pro) c.7013A>C (p.Gln2338Pro) c.6965A>C (p.Gln2322Pro) c.6926A>C (p.Gln2309Pro) c.6851A>C (p.Gln2284Pro) n.8722A>C c.7040A>C (p.Gln2347Pro) c.7010A>C (p.Gln2337Pro) c.6962A>C (p.Gln2321Pro) c.6929A>C (p.Gln2310Pro) c.6899A>C (p.Gln2300Pro) c.6896A>C (p.Gln2299Pro) c.6848A>C (p.Gln2283Pro) c.6812A>C (p.Gln2271Pro) c.6809A>C (p.Gln2270Pro) c.6764A>C (p.Gln2255Pro) n.7429A>C | |
X | g.77520859G>A | CA413707238 | ATRX | c.7129C>T (p.Gln2377Ter) c.2227C>T (p.Gln743Ter) c.7015C>T (p.Gln2339Ter) c.*6757C>T (n.*6757C>T) n.5449C>T n.360C>T c.7126C>T (p.Gln2376Ter) c.7042C>T (p.Gln2348Ter) c.7012C>T (p.Gln2338Ter) c.6964C>T (p.Gln2322Ter) c.6925C>T (p.Gln2309Ter) c.6850C>T (p.Gln2284Ter) n.8721C>T c.7039C>T (p.Gln2347Ter) c.7009C>T (p.Gln2337Ter) c.6961C>T (p.Gln2321Ter) c.6928C>T (p.Gln2310Ter) c.6898C>T (p.Gln2300Ter) c.6895C>T (p.Gln2299Ter) c.6847C>T (p.Gln2283Ter) c.6811C>T (p.Gln2271Ter) c.6808C>T (p.Gln2270Ter) c.6763C>T (p.Gln2255Ter) n.7428C>T | |
X | g.77520859G>C | CA413707239 | ATRX | c.7129C>G (p.Gln2377Glu) c.2227C>G (p.Gln743Glu) c.7015C>G (p.Gln2339Glu) c.*6757C>G (n.*6757C>G) n.5449C>G n.360C>G c.7126C>G (p.Gln2376Glu) c.7042C>G (p.Gln2348Glu) c.7012C>G (p.Gln2338Glu) c.6964C>G (p.Gln2322Glu) c.6925C>G (p.Gln2309Glu) c.6850C>G (p.Gln2284Glu) n.8721C>G c.7039C>G (p.Gln2347Glu) c.7009C>G (p.Gln2337Glu) c.6961C>G (p.Gln2321Glu) c.6928C>G (p.Gln2310Glu) c.6898C>G (p.Gln2300Glu) c.6895C>G (p.Gln2299Glu) c.6847C>G (p.Gln2283Glu) c.6811C>G (p.Gln2271Glu) c.6808C>G (p.Gln2270Glu) c.6763C>G (p.Gln2255Glu) n.7428C>G | |
X | g.77520859G>T | CA413707241 | ATRX | c.7129C>A (p.Gln2377Lys) c.2227C>A (p.Gln743Lys) c.7015C>A (p.Gln2339Lys) c.*6757C>A (n.*6757C>A) n.5449C>A n.360C>A c.7126C>A (p.Gln2376Lys) c.7042C>A (p.Gln2348Lys) c.7012C>A (p.Gln2338Lys) c.6964C>A (p.Gln2322Lys) c.6925C>A (p.Gln2309Lys) c.6850C>A (p.Gln2284Lys) n.8721C>A c.7039C>A (p.Gln2347Lys) c.7009C>A (p.Gln2337Lys) c.6961C>A (p.Gln2321Lys) c.6928C>A (p.Gln2310Lys) c.6898C>A (p.Gln2300Lys) c.6895C>A (p.Gln2299Lys) c.6847C>A (p.Gln2283Lys) c.6811C>A (p.Gln2271Lys) c.6808C>A (p.Gln2270Lys) c.6763C>A (p.Gln2255Lys) n.7428C>A | |
X | g.77520860T>A | CA413707243 | ATRX | c.7128A>T (p.Arg2376Ser) c.2226A>T (p.Arg742Ser) c.7014A>T (p.Arg2338Ser) c.*6756A>T (n.*6756A>T) n.5448A>T n.359A>T c.7125A>T (p.Arg2375Ser) c.7041A>T (p.Arg2347Ser) c.7011A>T (p.Arg2337Ser) c.6963A>T (p.Arg2321Ser) c.6924A>T (p.Arg2308Ser) c.6849A>T (p.Arg2283Ser) n.8720A>T c.7038A>T (p.Arg2346Ser) c.7008A>T (p.Arg2336Ser) c.6960A>T (p.Arg2320Ser) c.6927A>T (p.Arg2309Ser) c.6897A>T (p.Arg2299Ser) c.6894A>T (p.Arg2298Ser) c.6846A>T (p.Arg2282Ser) c.6810A>T (p.Arg2270Ser) c.6807A>T (p.Arg2269Ser) c.6762A>T (p.Arg2254Ser) n.7427A>T | |
X | g.77520860T>C | CA517374404 | ATRX | c.7128A>G (p.Arg2376=) c.2226A>G (p.Arg742=) c.7014A>G (p.Arg2338=) c.*6756A>G (n.*6756A>G) n.5448A>G n.359A>G c.7125A>G (p.Arg2375=) c.7041A>G (p.Arg2347=) c.7011A>G (p.Arg2337=) c.6963A>G (p.Arg2321=) c.6924A>G (p.Arg2308=) c.6849A>G (p.Arg2283=) n.8720A>G c.7038A>G (p.Arg2346=) c.7008A>G (p.Arg2336=) c.6960A>G (p.Arg2320=) c.6927A>G (p.Arg2309=) c.6897A>G (p.Arg2299=) c.6894A>G (p.Arg2298=) c.6846A>G (p.Arg2282=) c.6810A>G (p.Arg2270=) c.6807A>G (p.Arg2269=) c.6762A>G (p.Arg2254=) n.7427A>G | |
X | g.77520860T>G | CA413707245 | ATRX | c.7128A>C (p.Arg2376Ser) c.2226A>C (p.Arg742Ser) c.7014A>C (p.Arg2338Ser) c.*6756A>C (n.*6756A>C) n.5448A>C n.359A>C c.7125A>C (p.Arg2375Ser) c.7041A>C (p.Arg2347Ser) c.7011A>C (p.Arg2337Ser) c.6963A>C (p.Arg2321Ser) c.6924A>C (p.Arg2308Ser) c.6849A>C (p.Arg2283Ser) n.8720A>C c.7038A>C (p.Arg2346Ser) c.7008A>C (p.Arg2336Ser) c.6960A>C (p.Arg2320Ser) c.6927A>C (p.Arg2309Ser) c.6897A>C (p.Arg2299Ser) c.6894A>C (p.Arg2298Ser) c.6846A>C (p.Arg2282Ser) c.6810A>C (p.Arg2270Ser) c.6807A>C (p.Arg2269Ser) c.6762A>C (p.Arg2254Ser) n.7427A>C | |
X | g.77520861C>A | CA413707247 | ATRX | c.7127G>T (p.Arg2376Ile) c.2225G>T (p.Arg742Ile) c.7013G>T (p.Arg2338Ile) c.*6755G>T (n.*6755G>T) n.5447G>T n.358G>T c.7124G>T (p.Arg2375Ile) c.7040G>T (p.Arg2347Ile) c.7010G>T (p.Arg2337Ile) c.6962G>T (p.Arg2321Ile) c.6923G>T (p.Arg2308Ile) c.6848G>T (p.Arg2283Ile) n.8719G>T c.7037G>T (p.Arg2346Ile) c.7007G>T (p.Arg2336Ile) c.6959G>T (p.Arg2320Ile) c.6926G>T (p.Arg2309Ile) c.6896G>T (p.Arg2299Ile) c.6893G>T (p.Arg2298Ile) c.6845G>T (p.Arg2282Ile) c.6809G>T (p.Arg2270Ile) c.6806G>T (p.Arg2269Ile) c.6761G>T (p.Arg2254Ile) n.7426G>T | |
X | g.77520861C>G | CA413707249 | ATRX | c.7127G>C (p.Arg2376Thr) c.2225G>C (p.Arg742Thr) c.7013G>C (p.Arg2338Thr) c.*6755G>C (n.*6755G>C) n.5447G>C n.358G>C c.7124G>C (p.Arg2375Thr) c.7040G>C (p.Arg2347Thr) c.7010G>C (p.Arg2337Thr) c.6962G>C (p.Arg2321Thr) c.6923G>C (p.Arg2308Thr) c.6848G>C (p.Arg2283Thr) n.8719G>C c.7037G>C (p.Arg2346Thr) c.7007G>C (p.Arg2336Thr) c.6959G>C (p.Arg2320Thr) c.6926G>C (p.Arg2309Thr) c.6896G>C (p.Arg2299Thr) c.6893G>C (p.Arg2298Thr) c.6845G>C (p.Arg2282Thr) c.6809G>C (p.Arg2270Thr) c.6806G>C (p.Arg2269Thr) c.6761G>C (p.Arg2254Thr) n.7426G>C | |
X | g.77520861C>T | CA413707251 | ATRX | c.7127G>A (p.Arg2376Lys) c.2225G>A (p.Arg742Lys) c.7013G>A (p.Arg2338Lys) c.*6755G>A (n.*6755G>A) n.5447G>A n.358G>A c.7124G>A (p.Arg2375Lys) c.7040G>A (p.Arg2347Lys) c.7010G>A (p.Arg2337Lys) c.6962G>A (p.Arg2321Lys) c.6923G>A (p.Arg2308Lys) c.6848G>A (p.Arg2283Lys) n.8719G>A c.7037G>A (p.Arg2346Lys) c.7007G>A (p.Arg2336Lys) c.6959G>A (p.Arg2320Lys) c.6926G>A (p.Arg2309Lys) c.6896G>A (p.Arg2299Lys) c.6893G>A (p.Arg2298Lys) c.6845G>A (p.Arg2282Lys) c.6809G>A (p.Arg2270Lys) c.6806G>A (p.Arg2269Lys) c.6761G>A (p.Arg2254Lys) n.7426G>A | |
X | g.77520862T>A | CA413707255 | ATRX | c.7126A>T (p.Arg2376Ter) c.2224A>T (p.Arg742Ter) c.7012A>T (p.Arg2338Ter) c.*6754A>T (n.*6754A>T) n.5446A>T n.357A>T c.7123A>T (p.Arg2375Ter) c.7039A>T (p.Arg2347Ter) c.7009A>T (p.Arg2337Ter) c.6961A>T (p.Arg2321Ter) c.6922A>T (p.Arg2308Ter) c.6847A>T (p.Arg2283Ter) n.8718A>T c.7036A>T (p.Arg2346Ter) c.7006A>T (p.Arg2336Ter) c.6958A>T (p.Arg2320Ter) c.6925A>T (p.Arg2309Ter) c.6895A>T (p.Arg2299Ter) c.6892A>T (p.Arg2298Ter) c.6844A>T (p.Arg2282Ter) c.6808A>T (p.Arg2270Ter) c.6805A>T (p.Arg2269Ter) c.6760A>T (p.Arg2254Ter) n.7425A>T | |
X | g.77520862T>C | CA413707253 | ATRX | c.7126A>G (p.Arg2376Gly) c.2224A>G (p.Arg742Gly) c.7012A>G (p.Arg2338Gly) c.*6754A>G (n.*6754A>G) n.5446A>G n.357A>G c.7123A>G (p.Arg2375Gly) c.7039A>G (p.Arg2347Gly) c.7009A>G (p.Arg2337Gly) c.6961A>G (p.Arg2321Gly) c.6922A>G (p.Arg2308Gly) c.6847A>G (p.Arg2283Gly) n.8718A>G c.7036A>G (p.Arg2346Gly) c.7006A>G (p.Arg2336Gly) c.6958A>G (p.Arg2320Gly) c.6925A>G (p.Arg2309Gly) c.6895A>G (p.Arg2299Gly) c.6892A>G (p.Arg2298Gly) c.6844A>G (p.Arg2282Gly) c.6808A>G (p.Arg2270Gly) c.6805A>G (p.Arg2269Gly) c.6760A>G (p.Arg2254Gly) n.7425A>G | |
X | g.77520862T>G | CA517374405 | ATRX | c.7126A>C (p.Arg2376=) c.2224A>C (p.Arg742=) c.7012A>C (p.Arg2338=) c.*6754A>C (n.*6754A>C) n.5446A>C n.357A>C c.7123A>C (p.Arg2375=) c.7039A>C (p.Arg2347=) c.7009A>C (p.Arg2337=) c.6961A>C (p.Arg2321=) c.6922A>C (p.Arg2308=) c.6847A>C (p.Arg2283=) n.8718A>C c.7036A>C (p.Arg2346=) c.7006A>C (p.Arg2336=) c.6958A>C (p.Arg2320=) c.6925A>C (p.Arg2309=) c.6895A>C (p.Arg2299=) c.6892A>C (p.Arg2298=) c.6844A>C (p.Arg2282=) c.6808A>C (p.Arg2270=) c.6805A>C (p.Arg2269=) c.6760A>C (p.Arg2254=) n.7425A>C | |
X | g.77520863A>C | CA413707256 | ATRX | c.7125T>G (p.Ser2375Arg) c.2223T>G (p.Ser741Arg) c.7011T>G (p.Ser2337Arg) c.*6753T>G (n.*6753T>G) n.5445T>G n.356T>G c.7122T>G (p.Ser2374Arg) c.7038T>G (p.Ser2346Arg) c.7008T>G (p.Ser2336Arg) c.6960T>G (p.Ser2320Arg) c.6921T>G (p.Ser2307Arg) c.6846T>G (p.Ser2282Arg) n.8717T>G c.7035T>G (p.Ser2345Arg) c.7005T>G (p.Ser2335Arg) c.6957T>G (p.Ser2319Arg) c.6924T>G (p.Ser2308Arg) c.6894T>G (p.Ser2298Arg) c.6891T>G (p.Ser2297Arg) c.6843T>G (p.Ser2281Arg) c.6807T>G (p.Ser2269Arg) c.6804T>G (p.Ser2268Arg) c.6759T>G (p.Ser2253Arg) n.7424T>G | |
X | g.77520863A>G | CA517374406 | ATRX | c.7125T>C (p.Ser2375=) c.2223T>C (p.Ser741=) c.7011T>C (p.Ser2337=) c.*6753T>C (n.*6753T>C) n.5445T>C n.356T>C c.7122T>C (p.Ser2374=) c.7038T>C (p.Ser2346=) c.7008T>C (p.Ser2336=) c.6960T>C (p.Ser2320=) c.6921T>C (p.Ser2307=) c.6846T>C (p.Ser2282=) n.8717T>C c.7035T>C (p.Ser2345=) c.7005T>C (p.Ser2335=) c.6957T>C (p.Ser2319=) c.6924T>C (p.Ser2308=) c.6894T>C (p.Ser2298=) c.6891T>C (p.Ser2297=) c.6843T>C (p.Ser2281=) c.6807T>C (p.Ser2269=) c.6804T>C (p.Ser2268=) c.6759T>C (p.Ser2253=) n.7424T>C | |
X | g.77520863A>T | CA413707257 | ATRX | c.7125T>A (p.Ser2375Arg) c.2223T>A (p.Ser741Arg) c.7011T>A (p.Ser2337Arg) c.*6753T>A (n.*6753T>A) n.5445T>A n.356T>A c.7122T>A (p.Ser2374Arg) c.7038T>A (p.Ser2346Arg) c.7008T>A (p.Ser2336Arg) c.6960T>A (p.Ser2320Arg) c.6921T>A (p.Ser2307Arg) c.6846T>A (p.Ser2282Arg) n.8717T>A c.7035T>A (p.Ser2345Arg) c.7005T>A (p.Ser2335Arg) c.6957T>A (p.Ser2319Arg) c.6924T>A (p.Ser2308Arg) c.6894T>A (p.Ser2298Arg) c.6891T>A (p.Ser2297Arg) c.6843T>A (p.Ser2281Arg) c.6807T>A (p.Ser2269Arg) c.6804T>A (p.Ser2268Arg) c.6759T>A (p.Ser2253Arg) n.7424T>A | |
X | g.77520864C>A | CA413707259 | ATRX | c.7124G>T (p.Ser2375Ile) c.2222G>T (p.Ser741Ile) c.7010G>T (p.Ser2337Ile) c.*6752G>T (n.*6752G>T) n.5444G>T n.355G>T c.7121G>T (p.Ser2374Ile) c.7037G>T (p.Ser2346Ile) c.7007G>T (p.Ser2336Ile) c.6959G>T (p.Ser2320Ile) c.6920G>T (p.Ser2307Ile) c.6845G>T (p.Ser2282Ile) n.8716G>T c.7034G>T (p.Ser2345Ile) c.7004G>T (p.Ser2335Ile) c.6956G>T (p.Ser2319Ile) c.6923G>T (p.Ser2308Ile) c.6893G>T (p.Ser2298Ile) c.6890G>T (p.Ser2297Ile) c.6842G>T (p.Ser2281Ile) c.6806G>T (p.Ser2269Ile) c.6803G>T (p.Ser2268Ile) c.6758G>T (p.Ser2253Ile) n.7423G>T | |
X | g.77520864C>G | CA413707261 | ATRX | c.7124G>C (p.Ser2375Thr) c.2222G>C (p.Ser741Thr) c.7010G>C (p.Ser2337Thr) c.*6752G>C (n.*6752G>C) n.5444G>C n.355G>C c.7121G>C (p.Ser2374Thr) c.7037G>C (p.Ser2346Thr) c.7007G>C (p.Ser2336Thr) c.6959G>C (p.Ser2320Thr) c.6920G>C (p.Ser2307Thr) c.6845G>C (p.Ser2282Thr) n.8716G>C c.7034G>C (p.Ser2345Thr) c.7004G>C (p.Ser2335Thr) c.6956G>C (p.Ser2319Thr) c.6923G>C (p.Ser2308Thr) c.6893G>C (p.Ser2298Thr) c.6890G>C (p.Ser2297Thr) c.6842G>C (p.Ser2281Thr) c.6806G>C (p.Ser2269Thr) c.6803G>C (p.Ser2268Thr) c.6758G>C (p.Ser2253Thr) n.7423G>C | |
X | g.77520864C>T | CA413707262 | ATRX | c.7124G>A (p.Ser2375Asn) c.2222G>A (p.Ser741Asn) c.7010G>A (p.Ser2337Asn) c.*6752G>A (n.*6752G>A) n.5444G>A n.355G>A c.7121G>A (p.Ser2374Asn) c.7037G>A (p.Ser2346Asn) c.7007G>A (p.Ser2336Asn) c.6959G>A (p.Ser2320Asn) c.6920G>A (p.Ser2307Asn) c.6845G>A (p.Ser2282Asn) n.8716G>A c.7034G>A (p.Ser2345Asn) c.7004G>A (p.Ser2335Asn) c.6956G>A (p.Ser2319Asn) c.6923G>A (p.Ser2308Asn) c.6893G>A (p.Ser2298Asn) c.6890G>A (p.Ser2297Asn) c.6842G>A (p.Ser2281Asn) c.6806G>A (p.Ser2269Asn) c.6803G>A (p.Ser2268Asn) c.6758G>A (p.Ser2253Asn) n.7423G>A | |
X | g.77520865T>A | CA413707264 | ATRX | c.7123A>T (p.Ser2375Cys) c.2221A>T (p.Ser741Cys) c.7009A>T (p.Ser2337Cys) c.*6751A>T (n.*6751A>T) n.5443A>T n.354A>T c.7120A>T (p.Ser2374Cys) c.7036A>T (p.Ser2346Cys) c.7006A>T (p.Ser2336Cys) c.6958A>T (p.Ser2320Cys) c.6919A>T (p.Ser2307Cys) c.6844A>T (p.Ser2282Cys) n.8715A>T c.7033A>T (p.Ser2345Cys) c.7003A>T (p.Ser2335Cys) c.6955A>T (p.Ser2319Cys) c.6922A>T (p.Ser2308Cys) c.6892A>T (p.Ser2298Cys) c.6889A>T (p.Ser2297Cys) c.6841A>T (p.Ser2281Cys) c.6805A>T (p.Ser2269Cys) c.6802A>T (p.Ser2268Cys) c.6757A>T (p.Ser2253Cys) n.7422A>T | |
X | g.77520865T>C | CA413707266 | ATRX | c.7123A>G (p.Ser2375Gly) c.2221A>G (p.Ser741Gly) c.7009A>G (p.Ser2337Gly) c.*6751A>G (n.*6751A>G) n.5443A>G n.354A>G c.7120A>G (p.Ser2374Gly) c.7036A>G (p.Ser2346Gly) c.7006A>G (p.Ser2336Gly) c.6958A>G (p.Ser2320Gly) c.6919A>G (p.Ser2307Gly) c.6844A>G (p.Ser2282Gly) n.8715A>G c.7033A>G (p.Ser2345Gly) c.7003A>G (p.Ser2335Gly) c.6955A>G (p.Ser2319Gly) c.6922A>G (p.Ser2308Gly) c.6892A>G (p.Ser2298Gly) c.6889A>G (p.Ser2297Gly) c.6841A>G (p.Ser2281Gly) c.6805A>G (p.Ser2269Gly) c.6802A>G (p.Ser2268Gly) c.6757A>G (p.Ser2253Gly) n.7422A>G | |
X | g.77520865T>G | CA413707268 | ATRX | c.7123A>C (p.Ser2375Arg) c.2221A>C (p.Ser741Arg) c.7009A>C (p.Ser2337Arg) c.*6751A>C (n.*6751A>C) n.5443A>C n.354A>C c.7120A>C (p.Ser2374Arg) c.7036A>C (p.Ser2346Arg) c.7006A>C (p.Ser2336Arg) c.6958A>C (p.Ser2320Arg) c.6919A>C (p.Ser2307Arg) c.6844A>C (p.Ser2282Arg) n.8715A>C c.7033A>C (p.Ser2345Arg) c.7003A>C (p.Ser2335Arg) c.6955A>C (p.Ser2319Arg) c.6922A>C (p.Ser2308Arg) c.6892A>C (p.Ser2298Arg) c.6889A>C (p.Ser2297Arg) c.6841A>C (p.Ser2281Arg) c.6805A>C (p.Ser2269Arg) c.6802A>C (p.Ser2268Arg) c.6757A>C (p.Ser2253Arg) n.7422A>C | |
X | g.77520866T>A | CA413707269 | ATRX | c.7122A>T (p.Leu2374Phe) c.2220A>T (p.Leu740Phe) c.7008A>T (p.Leu2336Phe) c.*6750A>T (n.*6750A>T) n.5442A>T n.353A>T c.7119A>T (p.Leu2373Phe) c.7035A>T (p.Leu2345Phe) c.7005A>T (p.Leu2335Phe) c.6957A>T (p.Leu2319Phe) c.6918A>T (p.Leu2306Phe) c.6843A>T (p.Leu2281Phe) n.8714A>T c.7032A>T (p.Leu2344Phe) c.7002A>T (p.Leu2334Phe) c.6954A>T (p.Leu2318Phe) c.6921A>T (p.Leu2307Phe) c.6891A>T (p.Leu2297Phe) c.6888A>T (p.Leu2296Phe) c.6840A>T (p.Leu2280Phe) c.6804A>T (p.Leu2268Phe) c.6801A>T (p.Leu2267Phe) c.6756A>T (p.Leu2252Phe) n.7421A>T | |
X | g.77520866T>C | CA517374407 | ATRX | c.7122A>G (p.Leu2374=) c.2220A>G (p.Leu740=) c.7008A>G (p.Leu2336=) c.*6750A>G (n.*6750A>G) n.5442A>G n.353A>G c.7119A>G (p.Leu2373=) c.7035A>G (p.Leu2345=) c.7005A>G (p.Leu2335=) c.6957A>G (p.Leu2319=) c.6918A>G (p.Leu2306=) c.6843A>G (p.Leu2281=) n.8714A>G c.7032A>G (p.Leu2344=) c.7002A>G (p.Leu2334=) c.6954A>G (p.Leu2318=) c.6921A>G (p.Leu2307=) c.6891A>G (p.Leu2297=) c.6888A>G (p.Leu2296=) c.6840A>G (p.Leu2280=) c.6804A>G (p.Leu2268=) c.6801A>G (p.Leu2267=) c.6756A>G (p.Leu2252=) n.7421A>G | |
X | g.77520866T>G | CA413707270 | ATRX | c.7122A>C (p.Leu2374Phe) c.2220A>C (p.Leu740Phe) c.7008A>C (p.Leu2336Phe) c.*6750A>C (n.*6750A>C) n.5442A>C n.353A>C c.7119A>C (p.Leu2373Phe) c.7035A>C (p.Leu2345Phe) c.7005A>C (p.Leu2335Phe) c.6957A>C (p.Leu2319Phe) c.6918A>C (p.Leu2306Phe) c.6843A>C (p.Leu2281Phe) n.8714A>C c.7032A>C (p.Leu2344Phe) c.7002A>C (p.Leu2334Phe) c.6954A>C (p.Leu2318Phe) c.6921A>C (p.Leu2307Phe) c.6891A>C (p.Leu2297Phe) c.6888A>C (p.Leu2296Phe) c.6840A>C (p.Leu2280Phe) c.6804A>C (p.Leu2268Phe) c.6801A>C (p.Leu2267Phe) c.6756A>C (p.Leu2252Phe) n.7421A>C | |
X | g.77520867A>C | CA413707272 | ATRX | c.7121T>G (p.Leu2374Ter) c.2219T>G (p.Leu740Ter) c.7007T>G (p.Leu2336Ter) c.*6749T>G (n.*6749T>G) n.5441T>G n.352T>G c.7118T>G (p.Leu2373Ter) c.7034T>G (p.Leu2345Ter) c.7004T>G (p.Leu2335Ter) c.6956T>G (p.Leu2319Ter) c.6917T>G (p.Leu2306Ter) c.6842T>G (p.Leu2281Ter) n.8713T>G c.7031T>G (p.Leu2344Ter) c.7001T>G (p.Leu2334Ter) c.6953T>G (p.Leu2318Ter) c.6920T>G (p.Leu2307Ter) c.6890T>G (p.Leu2297Ter) c.6887T>G (p.Leu2296Ter) c.6839T>G (p.Leu2280Ter) c.6803T>G (p.Leu2268Ter) c.6800T>G (p.Leu2267Ter) c.6755T>G (p.Leu2252Ter) n.7420T>G | |
X | g.77520867A>G | CA413707273 | ATRX | c.7121T>C (p.Leu2374Ser) c.2219T>C (p.Leu740Ser) c.7007T>C (p.Leu2336Ser) c.*6749T>C (n.*6749T>C) n.5441T>C n.352T>C c.7118T>C (p.Leu2373Ser) c.7034T>C (p.Leu2345Ser) c.7004T>C (p.Leu2335Ser) c.6956T>C (p.Leu2319Ser) c.6917T>C (p.Leu2306Ser) c.6842T>C (p.Leu2281Ser) n.8713T>C c.7031T>C (p.Leu2344Ser) c.7001T>C (p.Leu2334Ser) c.6953T>C (p.Leu2318Ser) c.6920T>C (p.Leu2307Ser) c.6890T>C (p.Leu2297Ser) c.6887T>C (p.Leu2296Ser) c.6839T>C (p.Leu2280Ser) c.6803T>C (p.Leu2268Ser) c.6800T>C (p.Leu2267Ser) c.6755T>C (p.Leu2252Ser) n.7420T>C | gnomAD v4 |
X | g.77520867A>T | CA413707275 | ATRX | c.7121T>A (p.Leu2374Ter) c.2219T>A (p.Leu740Ter) c.7007T>A (p.Leu2336Ter) c.*6749T>A (n.*6749T>A) n.5441T>A n.352T>A c.7118T>A (p.Leu2373Ter) c.7034T>A (p.Leu2345Ter) c.7004T>A (p.Leu2335Ter) c.6956T>A (p.Leu2319Ter) c.6917T>A (p.Leu2306Ter) c.6842T>A (p.Leu2281Ter) n.8713T>A c.7031T>A (p.Leu2344Ter) c.7001T>A (p.Leu2334Ter) c.6953T>A (p.Leu2318Ter) c.6920T>A (p.Leu2307Ter) c.6890T>A (p.Leu2297Ter) c.6887T>A (p.Leu2296Ter) c.6839T>A (p.Leu2280Ter) c.6803T>A (p.Leu2268Ter) c.6800T>A (p.Leu2267Ter) c.6755T>A (p.Leu2252Ter) n.7420T>A | |
X | g.77520868A>C | CA413707279 | ATRX | c.7120T>G (p.Leu2374Val) c.2218T>G (p.Leu740Val) c.7006T>G (p.Leu2336Val) c.*6748T>G (n.*6748T>G) n.5440T>G n.351T>G c.7117T>G (p.Leu2373Val) c.7033T>G (p.Leu2345Val) c.7003T>G (p.Leu2335Val) c.6955T>G (p.Leu2319Val) c.6916T>G (p.Leu2306Val) c.6841T>G (p.Leu2281Val) n.8712T>G c.7030T>G (p.Leu2344Val) c.7000T>G (p.Leu2334Val) c.6952T>G (p.Leu2318Val) c.6919T>G (p.Leu2307Val) c.6889T>G (p.Leu2297Val) c.6886T>G (p.Leu2296Val) c.6838T>G (p.Leu2280Val) c.6802T>G (p.Leu2268Val) c.6799T>G (p.Leu2267Val) c.6754T>G (p.Leu2252Val) n.7419T>G | |
X | g.77520868A>G | CA517374408 | ATRX | c.7120T>C (p.Leu2374=) c.2218T>C (p.Leu740=) c.7006T>C (p.Leu2336=) c.*6748T>C (n.*6748T>C) n.5440T>C n.351T>C c.7117T>C (p.Leu2373=) c.7033T>C (p.Leu2345=) c.7003T>C (p.Leu2335=) c.6955T>C (p.Leu2319=) c.6916T>C (p.Leu2306=) c.6841T>C (p.Leu2281=) n.8712T>C c.7030T>C (p.Leu2344=) c.7000T>C (p.Leu2334=) c.6952T>C (p.Leu2318=) c.6919T>C (p.Leu2307=) c.6889T>C (p.Leu2297=) c.6886T>C (p.Leu2296=) c.6838T>C (p.Leu2280=) c.6802T>C (p.Leu2268=) c.6799T>C (p.Leu2267=) c.6754T>C (p.Leu2252=) n.7419T>C | |
X | g.77520868A>T | CA413707278 | ATRX | c.7120T>A (p.Leu2374Ile) c.2218T>A (p.Leu740Ile) c.7006T>A (p.Leu2336Ile) c.*6748T>A (n.*6748T>A) n.5440T>A n.351T>A c.7117T>A (p.Leu2373Ile) c.7033T>A (p.Leu2345Ile) c.7003T>A (p.Leu2335Ile) c.6955T>A (p.Leu2319Ile) c.6916T>A (p.Leu2306Ile) c.6841T>A (p.Leu2281Ile) n.8712T>A c.7030T>A (p.Leu2344Ile) c.7000T>A (p.Leu2334Ile) c.6952T>A (p.Leu2318Ile) c.6919T>A (p.Leu2307Ile) c.6889T>A (p.Leu2297Ile) c.6886T>A (p.Leu2296Ile) c.6838T>A (p.Leu2280Ile) c.6802T>A (p.Leu2268Ile) c.6799T>A (p.Leu2267Ile) c.6754T>A (p.Leu2252Ile) n.7419T>A | |
X | g.77520869T>A | CA517374409 | ATRX | c.7119A>T (p.Ala2373=) c.2217A>T (p.Ala739=) c.7005A>T (p.Ala2335=) c.*6747A>T (n.*6747A>T) n.5439A>T n.350A>T c.7116A>T (p.Ala2372=) c.7032A>T (p.Ala2344=) c.7002A>T (p.Ala2334=) c.6954A>T (p.Ala2318=) c.6915A>T (p.Ala2305=) c.6840A>T (p.Ala2280=) n.8711A>T c.7029A>T (p.Ala2343=) c.6999A>T (p.Ala2333=) c.6951A>T (p.Ala2317=) c.6918A>T (p.Ala2306=) c.6888A>T (p.Ala2296=) c.6885A>T (p.Ala2295=) c.6837A>T (p.Ala2279=) c.6801A>T (p.Ala2267=) c.6798A>T (p.Ala2266=) c.6753A>T (p.Ala2251=) n.7418A>T | |
X | g.77520869T>C | CA517374410 | ATRX | c.7119A>G (p.Ala2373=) c.2217A>G (p.Ala739=) c.7005A>G (p.Ala2335=) c.*6747A>G (n.*6747A>G) n.5439A>G n.350A>G c.7116A>G (p.Ala2372=) c.7032A>G (p.Ala2344=) c.7002A>G (p.Ala2334=) c.6954A>G (p.Ala2318=) c.6915A>G (p.Ala2305=) c.6840A>G (p.Ala2280=) n.8711A>G c.7029A>G (p.Ala2343=) c.6999A>G (p.Ala2333=) c.6951A>G (p.Ala2317=) c.6918A>G (p.Ala2306=) c.6888A>G (p.Ala2296=) c.6885A>G (p.Ala2295=) c.6837A>G (p.Ala2279=) c.6801A>G (p.Ala2267=) c.6798A>G (p.Ala2266=) c.6753A>G (p.Ala2251=) n.7418A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.77520869T>G | CA517374411 | ATRX | c.7119A>C (p.Ala2373=) c.2217A>C (p.Ala739=) c.7005A>C (p.Ala2335=) c.*6747A>C (n.*6747A>C) n.5439A>C n.350A>C c.7116A>C (p.Ala2372=) c.7032A>C (p.Ala2344=) c.7002A>C (p.Ala2334=) c.6954A>C (p.Ala2318=) c.6915A>C (p.Ala2305=) c.6840A>C (p.Ala2280=) n.8711A>C c.7029A>C (p.Ala2343=) c.6999A>C (p.Ala2333=) c.6951A>C (p.Ala2317=) c.6918A>C (p.Ala2306=) c.6888A>C (p.Ala2296=) c.6885A>C (p.Ala2295=) c.6837A>C (p.Ala2279=) c.6801A>C (p.Ala2267=) c.6798A>C (p.Ala2266=) c.6753A>C (p.Ala2251=) n.7418A>C | |
X | g.77520869T= | CA2438933069 | ATRX | c.7119A= (p.Ala2373=) c.2217A= (p.Ala739=) c.7005A= (p.Ala2335=) c.*6747A= (n.*6747A=) n.5439A= n.350A= c.7116A= (p.Ala2372=) c.7032A= (p.Ala2344=) c.7002A= (p.Ala2334=) c.6954A= (p.Ala2318=) c.6915A= (p.Ala2305=) c.6840A= (p.Ala2280=) n.8711A= c.7029A= (p.Ala2343=) c.6999A= (p.Ala2333=) c.6951A= (p.Ala2317=) c.6918A= (p.Ala2306=) c.6888A= (p.Ala2296=) c.6885A= (p.Ala2295=) c.6837A= (p.Ala2279=) c.6801A= (p.Ala2267=) c.6798A= (p.Ala2266=) c.6753A= (p.Ala2251=) n.7418A= | |
X | g.77520870G>A | CA413707282 | ATRX | c.7118C>T (p.Ala2373Val) c.2216C>T (p.Ala739Val) c.7004C>T (p.Ala2335Val) c.*6746C>T (n.*6746C>T) n.5438C>T n.349C>T c.7115C>T (p.Ala2372Val) c.7031C>T (p.Ala2344Val) c.7001C>T (p.Ala2334Val) c.6953C>T (p.Ala2318Val) c.6914C>T (p.Ala2305Val) c.6839C>T (p.Ala2280Val) n.8710C>T c.7028C>T (p.Ala2343Val) c.6998C>T (p.Ala2333Val) c.6950C>T (p.Ala2317Val) c.6917C>T (p.Ala2306Val) c.6887C>T (p.Ala2296Val) c.6884C>T (p.Ala2295Val) c.6836C>T (p.Ala2279Val) c.6800C>T (p.Ala2267Val) c.6797C>T (p.Ala2266Val) c.6752C>T (p.Ala2251Val) n.7417C>T | |
X | g.77520870G>C | CA413707284 | ATRX | c.7118C>G (p.Ala2373Gly) c.2216C>G (p.Ala739Gly) c.7004C>G (p.Ala2335Gly) c.*6746C>G (n.*6746C>G) n.5438C>G n.349C>G c.7115C>G (p.Ala2372Gly) c.7031C>G (p.Ala2344Gly) c.7001C>G (p.Ala2334Gly) c.6953C>G (p.Ala2318Gly) c.6914C>G (p.Ala2305Gly) c.6839C>G (p.Ala2280Gly) n.8710C>G c.7028C>G (p.Ala2343Gly) c.6998C>G (p.Ala2333Gly) c.6950C>G (p.Ala2317Gly) c.6917C>G (p.Ala2306Gly) c.6887C>G (p.Ala2296Gly) c.6884C>G (p.Ala2295Gly) c.6836C>G (p.Ala2279Gly) c.6800C>G (p.Ala2267Gly) c.6797C>G (p.Ala2266Gly) c.6752C>G (p.Ala2251Gly) n.7417C>G | |
X | g.77520870G>T | CA413707285 | ATRX | c.7118C>A (p.Ala2373Glu) c.2216C>A (p.Ala739Glu) c.7004C>A (p.Ala2335Glu) c.*6746C>A (n.*6746C>A) n.5438C>A n.349C>A c.7115C>A (p.Ala2372Glu) c.7031C>A (p.Ala2344Glu) c.7001C>A (p.Ala2334Glu) c.6953C>A (p.Ala2318Glu) c.6914C>A (p.Ala2305Glu) c.6839C>A (p.Ala2280Glu) n.8710C>A c.7028C>A (p.Ala2343Glu) c.6998C>A (p.Ala2333Glu) c.6950C>A (p.Ala2317Glu) c.6917C>A (p.Ala2306Glu) c.6887C>A (p.Ala2296Glu) c.6884C>A (p.Ala2295Glu) c.6836C>A (p.Ala2279Glu) c.6800C>A (p.Ala2267Glu) c.6797C>A (p.Ala2266Glu) c.6752C>A (p.Ala2251Glu) n.7417C>A | |
X | g.77520871C>A | CA413707288 | ATRX | c.7117G>T (p.Ala2373Ser) c.2215G>T (p.Ala739Ser) c.7003G>T (p.Ala2335Ser) c.*6745G>T (n.*6745G>T) n.5437G>T n.348G>T c.7114G>T (p.Ala2372Ser) c.7030G>T (p.Ala2344Ser) c.7000G>T (p.Ala2334Ser) c.6952G>T (p.Ala2318Ser) c.6913G>T (p.Ala2305Ser) c.6838G>T (p.Ala2280Ser) n.8709G>T c.7027G>T (p.Ala2343Ser) c.6997G>T (p.Ala2333Ser) c.6949G>T (p.Ala2317Ser) c.6916G>T (p.Ala2306Ser) c.6886G>T (p.Ala2296Ser) c.6883G>T (p.Ala2295Ser) c.6835G>T (p.Ala2279Ser) c.6799G>T (p.Ala2267Ser) c.6796G>T (p.Ala2266Ser) c.6751G>T (p.Ala2251Ser) n.7416G>T | ClinVar gnomAD v4 |
X | g.77520871C>G | CA413707289 | ATRX | c.7117G>C (p.Ala2373Pro) c.2215G>C (p.Ala739Pro) c.7003G>C (p.Ala2335Pro) c.*6745G>C (n.*6745G>C) n.5437G>C n.348G>C c.7114G>C (p.Ala2372Pro) c.7030G>C (p.Ala2344Pro) c.7000G>C (p.Ala2334Pro) c.6952G>C (p.Ala2318Pro) c.6913G>C (p.Ala2305Pro) c.6838G>C (p.Ala2280Pro) n.8709G>C c.7027G>C (p.Ala2343Pro) c.6997G>C (p.Ala2333Pro) c.6949G>C (p.Ala2317Pro) c.6916G>C (p.Ala2306Pro) c.6886G>C (p.Ala2296Pro) c.6883G>C (p.Ala2295Pro) c.6835G>C (p.Ala2279Pro) c.6799G>C (p.Ala2267Pro) c.6796G>C (p.Ala2266Pro) c.6751G>C (p.Ala2251Pro) n.7416G>C | |
X | g.77520871C>T | CA413707290 | ATRX | c.7117G>A (p.Ala2373Thr) c.2215G>A (p.Ala739Thr) c.7003G>A (p.Ala2335Thr) c.*6745G>A (n.*6745G>A) n.5437G>A n.348G>A c.7114G>A (p.Ala2372Thr) c.7030G>A (p.Ala2344Thr) c.7000G>A (p.Ala2334Thr) c.6952G>A (p.Ala2318Thr) c.6913G>A (p.Ala2305Thr) c.6838G>A (p.Ala2280Thr) n.8709G>A c.7027G>A (p.Ala2343Thr) c.6997G>A (p.Ala2333Thr) c.6949G>A (p.Ala2317Thr) c.6916G>A (p.Ala2306Thr) c.6886G>A (p.Ala2296Thr) c.6883G>A (p.Ala2295Thr) c.6835G>A (p.Ala2279Thr) c.6799G>A (p.Ala2267Thr) c.6796G>A (p.Ala2266Thr) c.6751G>A (p.Ala2251Thr) n.7416G>A | |
X | g.77520872T>A | CA413707292 | ATRX | c.7116A>T (p.Leu2372Phe) c.2214A>T (p.Leu738Phe) c.7002A>T (p.Leu2334Phe) c.*6744A>T (n.*6744A>T) n.5436A>T n.347A>T c.7113A>T (p.Leu2371Phe) c.7029A>T (p.Leu2343Phe) c.6999A>T (p.Leu2333Phe) c.6951A>T (p.Leu2317Phe) c.6912A>T (p.Leu2304Phe) c.6837A>T (p.Leu2279Phe) n.8708A>T c.7026A>T (p.Leu2342Phe) c.6996A>T (p.Leu2332Phe) c.6948A>T (p.Leu2316Phe) c.6915A>T (p.Leu2305Phe) c.6885A>T (p.Leu2295Phe) c.6882A>T (p.Leu2294Phe) c.6834A>T (p.Leu2278Phe) c.6798A>T (p.Leu2266Phe) c.6795A>T (p.Leu2265Phe) c.6750A>T (p.Leu2250Phe) n.7415A>T | |
X | g.77520872T>C | CA517374412 | ATRX | c.7116A>G (p.Leu2372=) c.2214A>G (p.Leu738=) c.7002A>G (p.Leu2334=) c.*6744A>G (n.*6744A>G) n.5436A>G n.347A>G c.7113A>G (p.Leu2371=) c.7029A>G (p.Leu2343=) c.6999A>G (p.Leu2333=) c.6951A>G (p.Leu2317=) c.6912A>G (p.Leu2304=) c.6837A>G (p.Leu2279=) n.8708A>G c.7026A>G (p.Leu2342=) c.6996A>G (p.Leu2332=) c.6948A>G (p.Leu2316=) c.6915A>G (p.Leu2305=) c.6885A>G (p.Leu2295=) c.6882A>G (p.Leu2294=) c.6834A>G (p.Leu2278=) c.6798A>G (p.Leu2266=) c.6795A>G (p.Leu2265=) c.6750A>G (p.Leu2250=) n.7415A>G | |
X | g.77520872T>G | CA413707293 | ATRX | c.7116A>C (p.Leu2372Phe) c.2214A>C (p.Leu738Phe) c.7002A>C (p.Leu2334Phe) c.*6744A>C (n.*6744A>C) n.5436A>C n.347A>C c.7113A>C (p.Leu2371Phe) c.7029A>C (p.Leu2343Phe) c.6999A>C (p.Leu2333Phe) c.6951A>C (p.Leu2317Phe) c.6912A>C (p.Leu2304Phe) c.6837A>C (p.Leu2279Phe) n.8708A>C c.7026A>C (p.Leu2342Phe) c.6996A>C (p.Leu2332Phe) c.6948A>C (p.Leu2316Phe) c.6915A>C (p.Leu2305Phe) c.6885A>C (p.Leu2295Phe) c.6882A>C (p.Leu2294Phe) c.6834A>C (p.Leu2278Phe) c.6798A>C (p.Leu2266Phe) c.6795A>C (p.Leu2265Phe) c.6750A>C (p.Leu2250Phe) n.7415A>C | |
X | g.77520873A>C | CA413707295 | ATRX | c.7115T>G (p.Leu2372Ter) c.2213T>G (p.Leu738Ter) c.7001T>G (p.Leu2334Ter) c.*6743T>G (n.*6743T>G) n.5435T>G n.346T>G c.7112T>G (p.Leu2371Ter) c.7028T>G (p.Leu2343Ter) c.6998T>G (p.Leu2333Ter) c.6950T>G (p.Leu2317Ter) c.6911T>G (p.Leu2304Ter) c.6836T>G (p.Leu2279Ter) n.8707T>G c.7025T>G (p.Leu2342Ter) c.6995T>G (p.Leu2332Ter) c.6947T>G (p.Leu2316Ter) c.6914T>G (p.Leu2305Ter) c.6884T>G (p.Leu2295Ter) c.6881T>G (p.Leu2294Ter) c.6833T>G (p.Leu2278Ter) c.6797T>G (p.Leu2266Ter) c.6794T>G (p.Leu2265Ter) c.6749T>G (p.Leu2250Ter) n.7414T>G | dbSNP |
X | g.77520873A>G | CA413707297 | ATRX | c.7115T>C (p.Leu2372Ser) c.2213T>C (p.Leu738Ser) c.7001T>C (p.Leu2334Ser) c.*6743T>C (n.*6743T>C) n.5435T>C n.346T>C c.7112T>C (p.Leu2371Ser) c.7028T>C (p.Leu2343Ser) c.6998T>C (p.Leu2333Ser) c.6950T>C (p.Leu2317Ser) c.6911T>C (p.Leu2304Ser) c.6836T>C (p.Leu2279Ser) n.8707T>C c.7025T>C (p.Leu2342Ser) c.6995T>C (p.Leu2332Ser) c.6947T>C (p.Leu2316Ser) c.6914T>C (p.Leu2305Ser) c.6884T>C (p.Leu2295Ser) c.6881T>C (p.Leu2294Ser) c.6833T>C (p.Leu2278Ser) c.6797T>C (p.Leu2266Ser) c.6794T>C (p.Leu2265Ser) c.6749T>C (p.Leu2250Ser) n.7414T>C | dbSNP |
X | g.77520873A>T | CA413707299 | ATRX | c.7115T>A (p.Leu2372Ter) c.2213T>A (p.Leu738Ter) c.7001T>A (p.Leu2334Ter) c.*6743T>A (n.*6743T>A) n.5435T>A n.346T>A c.7112T>A (p.Leu2371Ter) c.7028T>A (p.Leu2343Ter) c.6998T>A (p.Leu2333Ter) c.6950T>A (p.Leu2317Ter) c.6911T>A (p.Leu2304Ter) c.6836T>A (p.Leu2279Ter) n.8707T>A c.7025T>A (p.Leu2342Ter) c.6995T>A (p.Leu2332Ter) c.6947T>A (p.Leu2316Ter) c.6914T>A (p.Leu2305Ter) c.6884T>A (p.Leu2295Ter) c.6881T>A (p.Leu2294Ter) c.6833T>A (p.Leu2278Ter) c.6797T>A (p.Leu2266Ter) c.6794T>A (p.Leu2265Ter) c.6749T>A (p.Leu2250Ter) n.7414T>A | dbSNP |
X | g.77520874A>C | CA413707301 | ATRX | c.7114T>G (p.Leu2372Val) c.2212T>G (p.Leu738Val) c.7000T>G (p.Leu2334Val) c.*6742T>G (n.*6742T>G) n.5434T>G n.345T>G c.7111T>G (p.Leu2371Val) c.7027T>G (p.Leu2343Val) c.6997T>G (p.Leu2333Val) c.6949T>G (p.Leu2317Val) c.6910T>G (p.Leu2304Val) c.6835T>G (p.Leu2279Val) n.8706T>G c.7024T>G (p.Leu2342Val) c.6994T>G (p.Leu2332Val) c.6946T>G (p.Leu2316Val) c.6913T>G (p.Leu2305Val) c.6883T>G (p.Leu2295Val) c.6880T>G (p.Leu2294Val) c.6832T>G (p.Leu2278Val) c.6796T>G (p.Leu2266Val) c.6793T>G (p.Leu2265Val) c.6748T>G (p.Leu2250Val) n.7413T>G | |
X | g.77520874A>G | CA517374413 | ATRX | c.7114T>C (p.Leu2372=) c.2212T>C (p.Leu738=) c.7000T>C (p.Leu2334=) c.*6742T>C (n.*6742T>C) n.5434T>C n.345T>C c.7111T>C (p.Leu2371=) c.7027T>C (p.Leu2343=) c.6997T>C (p.Leu2333=) c.6949T>C (p.Leu2317=) c.6910T>C (p.Leu2304=) c.6835T>C (p.Leu2279=) n.8706T>C c.7024T>C (p.Leu2342=) c.6994T>C (p.Leu2332=) c.6946T>C (p.Leu2316=) c.6913T>C (p.Leu2305=) c.6883T>C (p.Leu2295=) c.6880T>C (p.Leu2294=) c.6832T>C (p.Leu2278=) c.6796T>C (p.Leu2266=) c.6793T>C (p.Leu2265=) c.6748T>C (p.Leu2250=) n.7413T>C | |
X | g.77520874A>T | CA413707302 | ATRX | c.7114T>A (p.Leu2372Ile) c.2212T>A (p.Leu738Ile) c.7000T>A (p.Leu2334Ile) c.*6742T>A (n.*6742T>A) n.5434T>A n.345T>A c.7111T>A (p.Leu2371Ile) c.7027T>A (p.Leu2343Ile) c.6997T>A (p.Leu2333Ile) c.6949T>A (p.Leu2317Ile) c.6910T>A (p.Leu2304Ile) c.6835T>A (p.Leu2279Ile) n.8706T>A c.7024T>A (p.Leu2342Ile) c.6994T>A (p.Leu2332Ile) c.6946T>A (p.Leu2316Ile) c.6913T>A (p.Leu2305Ile) c.6883T>A (p.Leu2295Ile) c.6880T>A (p.Leu2294Ile) c.6832T>A (p.Leu2278Ile) c.6796T>A (p.Leu2266Ile) c.6793T>A (p.Leu2265Ile) c.6748T>A (p.Leu2250Ile) n.7413T>A | |
X | g.77520875C>A | CA517374414 | ATRX | c.7113G>T (p.Ala2371=) c.2211G>T (p.Ala737=) c.6999G>T (p.Ala2333=) c.*6741G>T (n.*6741G>T) n.5433G>T n.344G>T c.7110G>T (p.Ala2370=) c.7026G>T (p.Ala2342=) c.6996G>T (p.Ala2332=) c.6948G>T (p.Ala2316=) c.6909G>T (p.Ala2303=) c.6834G>T (p.Ala2278=) n.8705G>T c.7023G>T (p.Ala2341=) c.6993G>T (p.Ala2331=) c.6945G>T (p.Ala2315=) c.6912G>T (p.Ala2304=) c.6882G>T (p.Ala2294=) c.6879G>T (p.Ala2293=) c.6831G>T (p.Ala2277=) c.6795G>T (p.Ala2265=) c.6792G>T (p.Ala2264=) c.6747G>T (p.Ala2249=) n.7412G>T | |
X | g.77520875C= | CA2438933070 | ATRX | c.7113G= (p.Ala2371=) c.2211G= (p.Ala737=) c.6999G= (p.Ala2333=) c.*6741G= (n.*6741G=) n.5433G= n.344G= c.7110G= (p.Ala2370=) c.7026G= (p.Ala2342=) c.6996G= (p.Ala2332=) c.6948G= (p.Ala2316=) c.6909G= (p.Ala2303=) c.6834G= (p.Ala2278=) n.8705G= c.7023G= (p.Ala2341=) c.6993G= (p.Ala2331=) c.6945G= (p.Ala2315=) c.6912G= (p.Ala2304=) c.6882G= (p.Ala2294=) c.6879G= (p.Ala2293=) c.6831G= (p.Ala2277=) c.6795G= (p.Ala2265=) c.6792G= (p.Ala2264=) c.6747G= (p.Ala2249=) n.7412G= | |
X | g.77520875C>G | CA517374415 | ATRX | c.7113G>C (p.Ala2371=) c.2211G>C (p.Ala737=) c.6999G>C (p.Ala2333=) c.*6741G>C (n.*6741G>C) n.5433G>C n.344G>C c.7110G>C (p.Ala2370=) c.7026G>C (p.Ala2342=) c.6996G>C (p.Ala2332=) c.6948G>C (p.Ala2316=) c.6909G>C (p.Ala2303=) c.6834G>C (p.Ala2278=) n.8705G>C c.7023G>C (p.Ala2341=) c.6993G>C (p.Ala2331=) c.6945G>C (p.Ala2315=) c.6912G>C (p.Ala2304=) c.6882G>C (p.Ala2294=) c.6879G>C (p.Ala2293=) c.6831G>C (p.Ala2277=) c.6795G>C (p.Ala2265=) c.6792G>C (p.Ala2264=) c.6747G>C (p.Ala2249=) n.7412G>C | |
X | g.77520875C>T | CA10457421 | ATRX | c.7113G>A (p.Ala2371=) c.2211G>A (p.Ala737=) c.6999G>A (p.Ala2333=) c.*6741G>A (n.*6741G>A) n.5433G>A n.344G>A c.7110G>A (p.Ala2370=) c.7026G>A (p.Ala2342=) c.6996G>A (p.Ala2332=) c.6948G>A (p.Ala2316=) c.6909G>A (p.Ala2303=) c.6834G>A (p.Ala2278=) n.8705G>A c.7023G>A (p.Ala2341=) c.6993G>A (p.Ala2331=) c.6945G>A (p.Ala2315=) c.6912G>A (p.Ala2304=) c.6882G>A (p.Ala2294=) c.6879G>A (p.Ala2293=) c.6831G>A (p.Ala2277=) c.6795G>A (p.Ala2265=) c.6792G>A (p.Ala2264=) c.6747G>A (p.Ala2249=) n.7412G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.77520876G>A | CA413707308 | ATRX | c.7112C>T (p.Ala2371Val) c.2210C>T (p.Ala737Val) c.6998C>T (p.Ala2333Val) c.*6740C>T (n.*6740C>T) n.5432C>T n.343C>T c.7109C>T (p.Ala2370Val) c.7025C>T (p.Ala2342Val) c.6995C>T (p.Ala2332Val) c.6947C>T (p.Ala2316Val) c.6908C>T (p.Ala2303Val) c.6833C>T (p.Ala2278Val) n.8704C>T c.7022C>T (p.Ala2341Val) c.6992C>T (p.Ala2331Val) c.6944C>T (p.Ala2315Val) c.6911C>T (p.Ala2304Val) c.6881C>T (p.Ala2294Val) c.6878C>T (p.Ala2293Val) c.6830C>T (p.Ala2277Val) c.6794C>T (p.Ala2265Val) c.6791C>T (p.Ala2264Val) c.6746C>T (p.Ala2249Val) n.7411C>T | dbSNP gnomAD v4 COSMIC COSMIC |
X | g.77520876G>C | CA413707310 | ATRX | c.7112C>G (p.Ala2371Gly) c.2210C>G (p.Ala737Gly) c.6998C>G (p.Ala2333Gly) c.*6740C>G (n.*6740C>G) n.5432C>G n.343C>G c.7109C>G (p.Ala2370Gly) c.7025C>G (p.Ala2342Gly) c.6995C>G (p.Ala2332Gly) c.6947C>G (p.Ala2316Gly) c.6908C>G (p.Ala2303Gly) c.6833C>G (p.Ala2278Gly) n.8704C>G c.7022C>G (p.Ala2341Gly) c.6992C>G (p.Ala2331Gly) c.6944C>G (p.Ala2315Gly) c.6911C>G (p.Ala2304Gly) c.6881C>G (p.Ala2294Gly) c.6878C>G (p.Ala2293Gly) c.6830C>G (p.Ala2277Gly) c.6794C>G (p.Ala2265Gly) c.6791C>G (p.Ala2264Gly) c.6746C>G (p.Ala2249Gly) n.7411C>G | |
X | g.77520876G>T | CA413707306 | ATRX | c.7112C>A (p.Ala2371Glu) c.2210C>A (p.Ala737Glu) c.6998C>A (p.Ala2333Glu) c.*6740C>A (n.*6740C>A) n.5432C>A n.343C>A c.7109C>A (p.Ala2370Glu) c.7025C>A (p.Ala2342Glu) c.6995C>A (p.Ala2332Glu) c.6947C>A (p.Ala2316Glu) c.6908C>A (p.Ala2303Glu) c.6833C>A (p.Ala2278Glu) n.8704C>A c.7022C>A (p.Ala2341Glu) c.6992C>A (p.Ala2331Glu) c.6944C>A (p.Ala2315Glu) c.6911C>A (p.Ala2304Glu) c.6881C>A (p.Ala2294Glu) c.6878C>A (p.Ala2293Glu) c.6830C>A (p.Ala2277Glu) c.6794C>A (p.Ala2265Glu) c.6791C>A (p.Ala2264Glu) c.6746C>A (p.Ala2249Glu) n.7411C>A | |
X | g.77520877C>A | CA413707312 | ATRX | c.7111G>T (p.Ala2371Ser) c.2209G>T (p.Ala737Ser) c.6997G>T (p.Ala2333Ser) c.*6739G>T (n.*6739G>T) n.5431G>T n.342G>T c.7108G>T (p.Ala2370Ser) c.7024G>T (p.Ala2342Ser) c.6994G>T (p.Ala2332Ser) c.6946G>T (p.Ala2316Ser) c.6907G>T (p.Ala2303Ser) c.6832G>T (p.Ala2278Ser) n.8703G>T c.7021G>T (p.Ala2341Ser) c.6991G>T (p.Ala2331Ser) c.6943G>T (p.Ala2315Ser) c.6910G>T (p.Ala2304Ser) c.6880G>T (p.Ala2294Ser) c.6877G>T (p.Ala2293Ser) c.6829G>T (p.Ala2277Ser) c.6793G>T (p.Ala2265Ser) c.6790G>T (p.Ala2264Ser) c.6745G>T (p.Ala2249Ser) n.7410G>T | |
X | g.77520877C= | CA2438933071 | ATRX | c.7111G= (p.Ala2371=) c.2209G= (p.Ala737=) c.6997G= (p.Ala2333=) c.*6739G= (n.*6739G=) n.5431G= n.342G= c.7108G= (p.Ala2370=) c.7024G= (p.Ala2342=) c.6994G= (p.Ala2332=) c.6946G= (p.Ala2316=) c.6907G= (p.Ala2303=) c.6832G= (p.Ala2278=) n.8703G= c.7021G= (p.Ala2341=) c.6991G= (p.Ala2331=) c.6943G= (p.Ala2315=) c.6910G= (p.Ala2304=) c.6880G= (p.Ala2294=) c.6877G= (p.Ala2293=) c.6829G= (p.Ala2277=) c.6793G= (p.Ala2265=) c.6790G= (p.Ala2264=) c.6745G= (p.Ala2249=) n.7410G= | |
X | g.77520877C>G | CA413707315 | ATRX | c.7111G>C (p.Ala2371Pro) c.2209G>C (p.Ala737Pro) c.6997G>C (p.Ala2333Pro) c.*6739G>C (n.*6739G>C) n.5431G>C n.342G>C c.7108G>C (p.Ala2370Pro) c.7024G>C (p.Ala2342Pro) c.6994G>C (p.Ala2332Pro) c.6946G>C (p.Ala2316Pro) c.6907G>C (p.Ala2303Pro) c.6832G>C (p.Ala2278Pro) n.8703G>C c.7021G>C (p.Ala2341Pro) c.6991G>C (p.Ala2331Pro) c.6943G>C (p.Ala2315Pro) c.6910G>C (p.Ala2304Pro) c.6880G>C (p.Ala2294Pro) c.6877G>C (p.Ala2293Pro) c.6829G>C (p.Ala2277Pro) c.6793G>C (p.Ala2265Pro) c.6790G>C (p.Ala2264Pro) c.6745G>C (p.Ala2249Pro) n.7410G>C | gnomAD v4 |
X | g.77520877C>T | CA10457422 | ATRX | c.7111G>A (p.Ala2371Thr) c.2209G>A (p.Ala737Thr) c.6997G>A (p.Ala2333Thr) c.*6739G>A (n.*6739G>A) n.5431G>A n.342G>A c.7108G>A (p.Ala2370Thr) c.7024G>A (p.Ala2342Thr) c.6994G>A (p.Ala2332Thr) c.6946G>A (p.Ala2316Thr) c.6907G>A (p.Ala2303Thr) c.6832G>A (p.Ala2278Thr) n.8703G>A c.7021G>A (p.Ala2341Thr) c.6991G>A (p.Ala2331Thr) c.6943G>A (p.Ala2315Thr) c.6910G>A (p.Ala2304Thr) c.6880G>A (p.Ala2294Thr) c.6877G>A (p.Ala2293Thr) c.6829G>A (p.Ala2277Thr) c.6793G>A (p.Ala2265Thr) c.6790G>A (p.Ala2264Thr) c.6745G>A (p.Ala2249Thr) n.7410G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.77520878C>A | CA413707316 | ATRX | c.7110G>T (p.Gln2370His) c.2208G>T (p.Gln736His) c.6996G>T (p.Gln2332His) c.*6738G>T (n.*6738G>T) n.5430G>T n.341G>T c.7107G>T (p.Gln2369His) c.7023G>T (p.Gln2341His) c.6993G>T (p.Gln2331His) c.6945G>T (p.Gln2315His) c.6906G>T (p.Gln2302His) c.6831G>T (p.Gln2277His) n.8702G>T c.7020G>T (p.Gln2340His) c.6990G>T (p.Gln2330His) c.6942G>T (p.Gln2314His) c.6909G>T (p.Gln2303His) c.6879G>T (p.Gln2293His) c.6876G>T (p.Gln2292His) c.6828G>T (p.Gln2276His) c.6792G>T (p.Gln2264His) c.6789G>T (p.Gln2263His) c.6744G>T (p.Gln2248His) n.7409G>T | |
X | g.77520878C>G | CA413707318 | ATRX | c.7110G>C (p.Gln2370His) c.2208G>C (p.Gln736His) c.6996G>C (p.Gln2332His) c.*6738G>C (n.*6738G>C) n.5430G>C n.341G>C c.7107G>C (p.Gln2369His) c.7023G>C (p.Gln2341His) c.6993G>C (p.Gln2331His) c.6945G>C (p.Gln2315His) c.6906G>C (p.Gln2302His) c.6831G>C (p.Gln2277His) n.8702G>C c.7020G>C (p.Gln2340His) c.6990G>C (p.Gln2330His) c.6942G>C (p.Gln2314His) c.6909G>C (p.Gln2303His) c.6879G>C (p.Gln2293His) c.6876G>C (p.Gln2292His) c.6828G>C (p.Gln2276His) c.6792G>C (p.Gln2264His) c.6789G>C (p.Gln2263His) c.6744G>C (p.Gln2248His) n.7409G>C | |
X | g.77520878C>T | CA517374416 | ATRX | c.7110G>A (p.Gln2370=) c.2208G>A (p.Gln736=) c.6996G>A (p.Gln2332=) c.*6738G>A (n.*6738G>A) n.5430G>A n.341G>A c.7107G>A (p.Gln2369=) c.7023G>A (p.Gln2341=) c.6993G>A (p.Gln2331=) c.6945G>A (p.Gln2315=) c.6906G>A (p.Gln2302=) c.6831G>A (p.Gln2277=) n.8702G>A c.7020G>A (p.Gln2340=) c.6990G>A (p.Gln2330=) c.6942G>A (p.Gln2314=) c.6909G>A (p.Gln2303=) c.6879G>A (p.Gln2293=) c.6876G>A (p.Gln2292=) c.6828G>A (p.Gln2276=) c.6792G>A (p.Gln2264=) c.6789G>A (p.Gln2263=) c.6744G>A (p.Gln2248=) n.7409G>A | |
X | g.77520879T>A | CA413707321 | ATRX | c.7109A>T (p.Gln2370Leu) c.2207A>T (p.Gln736Leu) c.6995A>T (p.Gln2332Leu) c.*6737A>T (n.*6737A>T) n.5429A>T n.340A>T c.7106A>T (p.Gln2369Leu) c.7022A>T (p.Gln2341Leu) c.6992A>T (p.Gln2331Leu) c.6944A>T (p.Gln2315Leu) c.6905A>T (p.Gln2302Leu) c.6830A>T (p.Gln2277Leu) n.8701A>T c.7019A>T (p.Gln2340Leu) c.6989A>T (p.Gln2330Leu) c.6941A>T (p.Gln2314Leu) c.6908A>T (p.Gln2303Leu) c.6878A>T (p.Gln2293Leu) c.6875A>T (p.Gln2292Leu) c.6827A>T (p.Gln2276Leu) c.6791A>T (p.Gln2264Leu) c.6788A>T (p.Gln2263Leu) c.6743A>T (p.Gln2248Leu) n.7408A>T | |
X | g.77520879T>C | CA413707322 | ATRX | c.7109A>G (p.Gln2370Arg) c.2207A>G (p.Gln736Arg) c.6995A>G (p.Gln2332Arg) c.*6737A>G (n.*6737A>G) n.5429A>G n.340A>G c.7106A>G (p.Gln2369Arg) c.7022A>G (p.Gln2341Arg) c.6992A>G (p.Gln2331Arg) c.6944A>G (p.Gln2315Arg) c.6905A>G (p.Gln2302Arg) c.6830A>G (p.Gln2277Arg) n.8701A>G c.7019A>G (p.Gln2340Arg) c.6989A>G (p.Gln2330Arg) c.6941A>G (p.Gln2314Arg) c.6908A>G (p.Gln2303Arg) c.6878A>G (p.Gln2293Arg) c.6875A>G (p.Gln2292Arg) c.6827A>G (p.Gln2276Arg) c.6791A>G (p.Gln2264Arg) c.6788A>G (p.Gln2263Arg) c.6743A>G (p.Gln2248Arg) n.7408A>G | |
X | g.77520879T>G | CA413707324 | ATRX | c.7109A>C (p.Gln2370Pro) c.2207A>C (p.Gln736Pro) c.6995A>C (p.Gln2332Pro) c.*6737A>C (n.*6737A>C) n.5429A>C n.340A>C c.7106A>C (p.Gln2369Pro) c.7022A>C (p.Gln2341Pro) c.6992A>C (p.Gln2331Pro) c.6944A>C (p.Gln2315Pro) c.6905A>C (p.Gln2302Pro) c.6830A>C (p.Gln2277Pro) n.8701A>C c.7019A>C (p.Gln2340Pro) c.6989A>C (p.Gln2330Pro) c.6941A>C (p.Gln2314Pro) c.6908A>C (p.Gln2303Pro) c.6878A>C (p.Gln2293Pro) c.6875A>C (p.Gln2292Pro) c.6827A>C (p.Gln2276Pro) c.6791A>C (p.Gln2264Pro) c.6788A>C (p.Gln2263Pro) c.6743A>C (p.Gln2248Pro) n.7408A>C | |
X | g.77520880G>A | CA413707326 | ATRX | c.7108C>T (p.Gln2370Ter) c.2206C>T (p.Gln736Ter) c.6994C>T (p.Gln2332Ter) c.*6736C>T (n.*6736C>T) n.5428C>T n.339C>T c.7105C>T (p.Gln2369Ter) c.7021C>T (p.Gln2341Ter) c.6991C>T (p.Gln2331Ter) c.6943C>T (p.Gln2315Ter) c.6904C>T (p.Gln2302Ter) c.6829C>T (p.Gln2277Ter) n.8700C>T c.7018C>T (p.Gln2340Ter) c.6988C>T (p.Gln2330Ter) c.6940C>T (p.Gln2314Ter) c.6907C>T (p.Gln2303Ter) c.6877C>T (p.Gln2293Ter) c.6874C>T (p.Gln2292Ter) c.6826C>T (p.Gln2276Ter) c.6790C>T (p.Gln2264Ter) c.6787C>T (p.Gln2263Ter) c.6742C>T (p.Gln2248Ter) n.7407C>T | dbSNP gnomAD v4 COSMIC COSMIC |
X | g.77520880G>C | CA413707327 | ATRX | c.7108C>G (p.Gln2370Glu) c.2206C>G (p.Gln736Glu) c.6994C>G (p.Gln2332Glu) c.*6736C>G (n.*6736C>G) n.5428C>G n.339C>G c.7105C>G (p.Gln2369Glu) c.7021C>G (p.Gln2341Glu) c.6991C>G (p.Gln2331Glu) c.6943C>G (p.Gln2315Glu) c.6904C>G (p.Gln2302Glu) c.6829C>G (p.Gln2277Glu) n.8700C>G c.7018C>G (p.Gln2340Glu) c.6988C>G (p.Gln2330Glu) c.6940C>G (p.Gln2314Glu) c.6907C>G (p.Gln2303Glu) c.6877C>G (p.Gln2293Glu) c.6874C>G (p.Gln2292Glu) c.6826C>G (p.Gln2276Glu) c.6790C>G (p.Gln2264Glu) c.6787C>G (p.Gln2263Glu) c.6742C>G (p.Gln2248Glu) n.7407C>G | |
X | g.77520880G>T | CA413707329 | ATRX | c.7108C>A (p.Gln2370Lys) c.2206C>A (p.Gln736Lys) c.6994C>A (p.Gln2332Lys) c.*6736C>A (n.*6736C>A) n.5428C>A n.339C>A c.7105C>A (p.Gln2369Lys) c.7021C>A (p.Gln2341Lys) c.6991C>A (p.Gln2331Lys) c.6943C>A (p.Gln2315Lys) c.6904C>A (p.Gln2302Lys) c.6829C>A (p.Gln2277Lys) n.8700C>A c.7018C>A (p.Gln2340Lys) c.6988C>A (p.Gln2330Lys) c.6940C>A (p.Gln2314Lys) c.6907C>A (p.Gln2303Lys) c.6877C>A (p.Gln2293Lys) c.6874C>A (p.Gln2292Lys) c.6826C>A (p.Gln2276Lys) c.6790C>A (p.Gln2264Lys) c.6787C>A (p.Gln2263Lys) c.6742C>A (p.Gln2248Lys) n.7407C>A | |
X | g.77520881T>A | CA517374417 | ATRX | c.7107A>T (p.Val2369=) c.2205A>T (p.Val735=) c.6993A>T (p.Val2331=) c.*6735A>T (n.*6735A>T) n.5427A>T n.338A>T c.7104A>T (p.Val2368=) c.7020A>T (p.Val2340=) c.6990A>T (p.Val2330=) c.6942A>T (p.Val2314=) c.6903A>T (p.Val2301=) c.6828A>T (p.Val2276=) n.8699A>T c.7017A>T (p.Val2339=) c.6987A>T (p.Val2329=) c.6939A>T (p.Val2313=) c.6906A>T (p.Val2302=) c.6876A>T (p.Val2292=) c.6873A>T (p.Val2291=) c.6825A>T (p.Val2275=) c.6789A>T (p.Val2263=) c.6786A>T (p.Val2262=) c.6741A>T (p.Val2247=) n.7406A>T | |
X | g.77520881T>C | CA517374418 | ATRX | c.7107A>G (p.Val2369=) c.2205A>G (p.Val735=) c.6993A>G (p.Val2331=) c.*6735A>G (n.*6735A>G) n.5427A>G n.338A>G c.7104A>G (p.Val2368=) c.7020A>G (p.Val2340=) c.6990A>G (p.Val2330=) c.6942A>G (p.Val2314=) c.6903A>G (p.Val2301=) c.6828A>G (p.Val2276=) n.8699A>G c.7017A>G (p.Val2339=) c.6987A>G (p.Val2329=) c.6939A>G (p.Val2313=) c.6906A>G (p.Val2302=) c.6876A>G (p.Val2292=) c.6873A>G (p.Val2291=) c.6825A>G (p.Val2275=) c.6789A>G (p.Val2263=) c.6786A>G (p.Val2262=) c.6741A>G (p.Val2247=) n.7406A>G | |
X | g.77520881T>G | CA517374419 | ATRX | c.7107A>C (p.Val2369=) c.2205A>C (p.Val735=) c.6993A>C (p.Val2331=) c.*6735A>C (n.*6735A>C) n.5427A>C n.338A>C c.7104A>C (p.Val2368=) c.7020A>C (p.Val2340=) c.6990A>C (p.Val2330=) c.6942A>C (p.Val2314=) c.6903A>C (p.Val2301=) c.6828A>C (p.Val2276=) n.8699A>C c.7017A>C (p.Val2339=) c.6987A>C (p.Val2329=) c.6939A>C (p.Val2313=) c.6906A>C (p.Val2302=) c.6876A>C (p.Val2292=) c.6873A>C (p.Val2291=) c.6825A>C (p.Val2275=) c.6789A>C (p.Val2263=) c.6786A>C (p.Val2262=) c.6741A>C (p.Val2247=) n.7406A>C | |
X | g.77520882A>C | CA413707330 | ATRX | c.7106T>G (p.Val2369Gly) c.2204T>G (p.Val735Gly) c.6992T>G (p.Val2331Gly) c.*6734T>G (n.*6734T>G) n.5426T>G n.337T>G c.7103T>G (p.Val2368Gly) c.7019T>G (p.Val2340Gly) c.6989T>G (p.Val2330Gly) c.6941T>G (p.Val2314Gly) c.6902T>G (p.Val2301Gly) c.6827T>G (p.Val2276Gly) n.8698T>G c.7016T>G (p.Val2339Gly) c.6986T>G (p.Val2329Gly) c.6938T>G (p.Val2313Gly) c.6905T>G (p.Val2302Gly) c.6875T>G (p.Val2292Gly) c.6872T>G (p.Val2291Gly) c.6824T>G (p.Val2275Gly) c.6788T>G (p.Val2263Gly) c.6785T>G (p.Val2262Gly) c.6740T>G (p.Val2247Gly) n.7405T>G | |
X | g.77520882A>G | CA413707332 | ATRX | c.7106T>C (p.Val2369Ala) c.2204T>C (p.Val735Ala) c.6992T>C (p.Val2331Ala) c.*6734T>C (n.*6734T>C) n.5426T>C n.337T>C c.7103T>C (p.Val2368Ala) c.7019T>C (p.Val2340Ala) c.6989T>C (p.Val2330Ala) c.6941T>C (p.Val2314Ala) c.6902T>C (p.Val2301Ala) c.6827T>C (p.Val2276Ala) n.8698T>C c.7016T>C (p.Val2339Ala) c.6986T>C (p.Val2329Ala) c.6938T>C (p.Val2313Ala) c.6905T>C (p.Val2302Ala) c.6875T>C (p.Val2292Ala) c.6872T>C (p.Val2291Ala) c.6824T>C (p.Val2275Ala) c.6788T>C (p.Val2263Ala) c.6785T>C (p.Val2262Ala) c.6740T>C (p.Val2247Ala) n.7405T>C | |
X | g.77520882A>T | CA413707333 | ATRX | c.7106T>A (p.Val2369Glu) c.2204T>A (p.Val735Glu) c.6992T>A (p.Val2331Glu) c.*6734T>A (n.*6734T>A) n.5426T>A n.337T>A c.7103T>A (p.Val2368Glu) c.7019T>A (p.Val2340Glu) c.6989T>A (p.Val2330Glu) c.6941T>A (p.Val2314Glu) c.6902T>A (p.Val2301Glu) c.6827T>A (p.Val2276Glu) n.8698T>A c.7016T>A (p.Val2339Glu) c.6986T>A (p.Val2329Glu) c.6938T>A (p.Val2313Glu) c.6905T>A (p.Val2302Glu) c.6875T>A (p.Val2292Glu) c.6872T>A (p.Val2291Glu) c.6824T>A (p.Val2275Glu) c.6788T>A (p.Val2263Glu) c.6785T>A (p.Val2262Glu) c.6740T>A (p.Val2247Glu) n.7405T>A | |
X | g.77520883C>A | CA413707336 | ATRX | c.7105G>T (p.Val2369Leu) c.2203G>T (p.Val735Leu) c.6991G>T (p.Val2331Leu) c.*6733G>T (n.*6733G>T) n.5425G>T n.336G>T c.7102G>T (p.Val2368Leu) c.7018G>T (p.Val2340Leu) c.6988G>T (p.Val2330Leu) c.6940G>T (p.Val2314Leu) c.6901G>T (p.Val2301Leu) c.6826G>T (p.Val2276Leu) n.8697G>T c.7015G>T (p.Val2339Leu) c.6985G>T (p.Val2329Leu) c.6937G>T (p.Val2313Leu) c.6904G>T (p.Val2302Leu) c.6874G>T (p.Val2292Leu) c.6871G>T (p.Val2291Leu) c.6823G>T (p.Val2275Leu) c.6787G>T (p.Val2263Leu) c.6784G>T (p.Val2262Leu) c.6739G>T (p.Val2247Leu) n.7404G>T | |
X | g.77520883C>G | CA413707337 | ATRX | c.7105G>C (p.Val2369Leu) c.2203G>C (p.Val735Leu) c.6991G>C (p.Val2331Leu) c.*6733G>C (n.*6733G>C) n.5425G>C n.336G>C c.7102G>C (p.Val2368Leu) c.7018G>C (p.Val2340Leu) c.6988G>C (p.Val2330Leu) c.6940G>C (p.Val2314Leu) c.6901G>C (p.Val2301Leu) c.6826G>C (p.Val2276Leu) n.8697G>C c.7015G>C (p.Val2339Leu) c.6985G>C (p.Val2329Leu) c.6937G>C (p.Val2313Leu) c.6904G>C (p.Val2302Leu) c.6874G>C (p.Val2292Leu) c.6871G>C (p.Val2291Leu) c.6823G>C (p.Val2275Leu) c.6787G>C (p.Val2263Leu) c.6784G>C (p.Val2262Leu) c.6739G>C (p.Val2247Leu) n.7404G>C | |
X | g.77520883C>T | CA413707339 | ATRX | c.7105G>A (p.Val2369Ile) c.2203G>A (p.Val735Ile) c.6991G>A (p.Val2331Ile) c.*6733G>A (n.*6733G>A) n.5425G>A n.336G>A c.7102G>A (p.Val2368Ile) c.7018G>A (p.Val2340Ile) c.6988G>A (p.Val2330Ile) c.6940G>A (p.Val2314Ile) c.6901G>A (p.Val2301Ile) c.6826G>A (p.Val2276Ile) n.8697G>A c.7015G>A (p.Val2339Ile) c.6985G>A (p.Val2329Ile) c.6937G>A (p.Val2313Ile) c.6904G>A (p.Val2302Ile) c.6874G>A (p.Val2292Ile) c.6871G>A (p.Val2291Ile) c.6823G>A (p.Val2275Ile) c.6787G>A (p.Val2263Ile) c.6784G>A (p.Val2262Ile) c.6739G>A (p.Val2247Ile) n.7404G>A | gnomAD v4 |
X | g.77520884T>A | CA413707343 | ATRX | c.7104A>T (p.Gln2368His) c.2202A>T (p.Gln734His) c.6990A>T (p.Gln2330His) c.*6732A>T (n.*6732A>T) n.5424A>T n.335A>T c.7101A>T (p.Gln2367His) c.7017A>T (p.Gln2339His) c.6987A>T (p.Gln2329His) c.6939A>T (p.Gln2313His) c.6900A>T (p.Gln2300His) c.6825A>T (p.Gln2275His) n.8696A>T c.7014A>T (p.Gln2338His) c.6984A>T (p.Gln2328His) c.6936A>T (p.Gln2312His) c.6903A>T (p.Gln2301His) c.6873A>T (p.Gln2291His) c.6870A>T (p.Gln2290His) c.6822A>T (p.Gln2274His) c.6786A>T (p.Gln2262His) c.6783A>T (p.Gln2261His) c.6738A>T (p.Gln2246His) n.7403A>T | |
X | g.77520884T>C | CA517374420 | ATRX | c.7104A>G (p.Gln2368=) c.2202A>G (p.Gln734=) c.6990A>G (p.Gln2330=) c.*6732A>G (n.*6732A>G) n.5424A>G n.335A>G c.7101A>G (p.Gln2367=) c.7017A>G (p.Gln2339=) c.6987A>G (p.Gln2329=) c.6939A>G (p.Gln2313=) c.6900A>G (p.Gln2300=) c.6825A>G (p.Gln2275=) n.8696A>G c.7014A>G (p.Gln2338=) c.6984A>G (p.Gln2328=) c.6936A>G (p.Gln2312=) c.6903A>G (p.Gln2301=) c.6873A>G (p.Gln2291=) c.6870A>G (p.Gln2290=) c.6822A>G (p.Gln2274=) c.6786A>G (p.Gln2262=) c.6783A>G (p.Gln2261=) c.6738A>G (p.Gln2246=) n.7403A>G | |
X | g.77520884T>G | CA413707341 | ATRX | c.7104A>C (p.Gln2368His) c.2202A>C (p.Gln734His) c.6990A>C (p.Gln2330His) c.*6732A>C (n.*6732A>C) n.5424A>C n.335A>C c.7101A>C (p.Gln2367His) c.7017A>C (p.Gln2339His) c.6987A>C (p.Gln2329His) c.6939A>C (p.Gln2313His) c.6900A>C (p.Gln2300His) c.6825A>C (p.Gln2275His) n.8696A>C c.7014A>C (p.Gln2338His) c.6984A>C (p.Gln2328His) c.6936A>C (p.Gln2312His) c.6903A>C (p.Gln2301His) c.6873A>C (p.Gln2291His) c.6870A>C (p.Gln2290His) c.6822A>C (p.Gln2274His) c.6786A>C (p.Gln2262His) c.6783A>C (p.Gln2261His) c.6738A>C (p.Gln2246His) n.7403A>C | ClinVar dbSNP |
X | g.77520885T>A | CA413707345 | ATRX | c.7103A>T (p.Gln2368Leu) c.2201A>T (p.Gln734Leu) c.6989A>T (p.Gln2330Leu) c.*6731A>T (n.*6731A>T) n.5423A>T n.334A>T c.7100A>T (p.Gln2367Leu) c.7016A>T (p.Gln2339Leu) c.6986A>T (p.Gln2329Leu) c.6938A>T (p.Gln2313Leu) c.6899A>T (p.Gln2300Leu) c.6824A>T (p.Gln2275Leu) n.8695A>T c.7013A>T (p.Gln2338Leu) c.6983A>T (p.Gln2328Leu) c.6935A>T (p.Gln2312Leu) c.6902A>T (p.Gln2301Leu) c.6872A>T (p.Gln2291Leu) c.6869A>T (p.Gln2290Leu) c.6821A>T (p.Gln2274Leu) c.6785A>T (p.Gln2262Leu) c.6782A>T (p.Gln2261Leu) c.6737A>T (p.Gln2246Leu) n.7402A>T | |
X | g.77520885T>C | CA413707346 | ATRX | c.7103A>G (p.Gln2368Arg) c.2201A>G (p.Gln734Arg) c.6989A>G (p.Gln2330Arg) c.*6731A>G (n.*6731A>G) n.5423A>G n.334A>G c.7100A>G (p.Gln2367Arg) c.7016A>G (p.Gln2339Arg) c.6986A>G (p.Gln2329Arg) c.6938A>G (p.Gln2313Arg) c.6899A>G (p.Gln2300Arg) c.6824A>G (p.Gln2275Arg) n.8695A>G c.7013A>G (p.Gln2338Arg) c.6983A>G (p.Gln2328Arg) c.6935A>G (p.Gln2312Arg) c.6902A>G (p.Gln2301Arg) c.6872A>G (p.Gln2291Arg) c.6869A>G (p.Gln2290Arg) c.6821A>G (p.Gln2274Arg) c.6785A>G (p.Gln2262Arg) c.6782A>G (p.Gln2261Arg) c.6737A>G (p.Gln2246Arg) n.7402A>G | dbSNP gnomAD v2 gnomAD v4 |
X | g.77520885T>G | CA413707347 | ATRX | c.7103A>C (p.Gln2368Pro) c.2201A>C (p.Gln734Pro) c.6989A>C (p.Gln2330Pro) c.*6731A>C (n.*6731A>C) n.5423A>C n.334A>C c.7100A>C (p.Gln2367Pro) c.7016A>C (p.Gln2339Pro) c.6986A>C (p.Gln2329Pro) c.6938A>C (p.Gln2313Pro) c.6899A>C (p.Gln2300Pro) c.6824A>C (p.Gln2275Pro) n.8695A>C c.7013A>C (p.Gln2338Pro) c.6983A>C (p.Gln2328Pro) c.6935A>C (p.Gln2312Pro) c.6902A>C (p.Gln2301Pro) c.6872A>C (p.Gln2291Pro) c.6869A>C (p.Gln2290Pro) c.6821A>C (p.Gln2274Pro) c.6785A>C (p.Gln2262Pro) c.6782A>C (p.Gln2261Pro) c.6737A>C (p.Gln2246Pro) n.7402A>C | |
X | g.77520885T= | CA2438933072 | ATRX | c.7103A= (p.Gln2368=) c.2201A= (p.Gln734=) c.6989A= (p.Gln2330=) c.*6731A= (n.*6731A=) n.5423A= n.334A= c.7100A= (p.Gln2367=) c.7016A= (p.Gln2339=) c.6986A= (p.Gln2329=) c.6938A= (p.Gln2313=) c.6899A= (p.Gln2300=) c.6824A= (p.Gln2275=) n.8695A= c.7013A= (p.Gln2338=) c.6983A= (p.Gln2328=) c.6935A= (p.Gln2312=) c.6902A= (p.Gln2301=) c.6872A= (p.Gln2291=) c.6869A= (p.Gln2290=) c.6821A= (p.Gln2274=) c.6785A= (p.Gln2262=) c.6782A= (p.Gln2261=) c.6737A= (p.Gln2246=) n.7402A= | |
X | g.77520886G>A | CA413707349 | ATRX | c.7102C>T (p.Gln2368Ter) c.2200C>T (p.Gln734Ter) c.6988C>T (p.Gln2330Ter) c.*6730C>T (n.*6730C>T) n.5422C>T n.333C>T c.7099C>T (p.Gln2367Ter) c.7015C>T (p.Gln2339Ter) c.6985C>T (p.Gln2329Ter) c.6937C>T (p.Gln2313Ter) c.6898C>T (p.Gln2300Ter) c.6823C>T (p.Gln2275Ter) n.8694C>T c.7012C>T (p.Gln2338Ter) c.6982C>T (p.Gln2328Ter) c.6934C>T (p.Gln2312Ter) c.6901C>T (p.Gln2301Ter) c.6871C>T (p.Gln2291Ter) c.6868C>T (p.Gln2290Ter) c.6820C>T (p.Gln2274Ter) c.6784C>T (p.Gln2262Ter) c.6781C>T (p.Gln2261Ter) c.6736C>T (p.Gln2246Ter) n.7401C>T | |
X | g.77520886G>C | CA413707351 | ATRX | c.7102C>G (p.Gln2368Glu) c.2200C>G (p.Gln734Glu) c.6988C>G (p.Gln2330Glu) c.*6730C>G (n.*6730C>G) n.5422C>G n.333C>G c.7099C>G (p.Gln2367Glu) c.7015C>G (p.Gln2339Glu) c.6985C>G (p.Gln2329Glu) c.6937C>G (p.Gln2313Glu) c.6898C>G (p.Gln2300Glu) c.6823C>G (p.Gln2275Glu) n.8694C>G c.7012C>G (p.Gln2338Glu) c.6982C>G (p.Gln2328Glu) c.6934C>G (p.Gln2312Glu) c.6901C>G (p.Gln2301Glu) c.6871C>G (p.Gln2291Glu) c.6868C>G (p.Gln2290Glu) c.6820C>G (p.Gln2274Glu) c.6784C>G (p.Gln2262Glu) c.6781C>G (p.Gln2261Glu) c.6736C>G (p.Gln2246Glu) n.7401C>G | |
X | g.77520886G>T | CA413707353 | ATRX | c.7102C>A (p.Gln2368Lys) c.2200C>A (p.Gln734Lys) c.6988C>A (p.Gln2330Lys) c.*6730C>A (n.*6730C>A) n.5422C>A n.333C>A c.7099C>A (p.Gln2367Lys) c.7015C>A (p.Gln2339Lys) c.6985C>A (p.Gln2329Lys) c.6937C>A (p.Gln2313Lys) c.6898C>A (p.Gln2300Lys) c.6823C>A (p.Gln2275Lys) n.8694C>A c.7012C>A (p.Gln2338Lys) c.6982C>A (p.Gln2328Lys) c.6934C>A (p.Gln2312Lys) c.6901C>A (p.Gln2301Lys) c.6871C>A (p.Gln2291Lys) c.6868C>A (p.Gln2290Lys) c.6820C>A (p.Gln2274Lys) c.6784C>A (p.Gln2262Lys) c.6781C>A (p.Gln2261Lys) c.6736C>A (p.Gln2246Lys) n.7401C>A | |
X | g.77520887G>A | CA517374421 | ATRX | c.7101C>T (p.Ala2367=) c.2199C>T (p.Ala733=) c.6987C>T (p.Ala2329=) c.*6729C>T (n.*6729C>T) n.5421C>T n.332C>T c.7098C>T (p.Ala2366=) c.7014C>T (p.Ala2338=) c.6984C>T (p.Ala2328=) c.6936C>T (p.Ala2312=) c.6897C>T (p.Ala2299=) c.6822C>T (p.Ala2274=) n.8693C>T c.7011C>T (p.Ala2337=) c.6981C>T (p.Ala2327=) c.6933C>T (p.Ala2311=) c.6900C>T (p.Ala2300=) c.6870C>T (p.Ala2290=) c.6867C>T (p.Ala2289=) c.6819C>T (p.Ala2273=) c.6783C>T (p.Ala2261=) c.6780C>T (p.Ala2260=) c.6735C>T (p.Ala2245=) n.7400C>T | |
X | g.77520887G>C | CA517374422 | ATRX | c.7101C>G (p.Ala2367=) c.2199C>G (p.Ala733=) c.6987C>G (p.Ala2329=) c.*6729C>G (n.*6729C>G) n.5421C>G n.332C>G c.7098C>G (p.Ala2366=) c.7014C>G (p.Ala2338=) c.6984C>G (p.Ala2328=) c.6936C>G (p.Ala2312=) c.6897C>G (p.Ala2299=) c.6822C>G (p.Ala2274=) n.8693C>G c.7011C>G (p.Ala2337=) c.6981C>G (p.Ala2327=) c.6933C>G (p.Ala2311=) c.6900C>G (p.Ala2300=) c.6870C>G (p.Ala2290=) c.6867C>G (p.Ala2289=) c.6819C>G (p.Ala2273=) c.6783C>G (p.Ala2261=) c.6780C>G (p.Ala2260=) c.6735C>G (p.Ala2245=) n.7400C>G | |
X | g.77520887G>T | CA517374423 | ATRX | c.7101C>A (p.Ala2367=) c.2199C>A (p.Ala733=) c.6987C>A (p.Ala2329=) c.*6729C>A (n.*6729C>A) n.5421C>A n.332C>A c.7098C>A (p.Ala2366=) c.7014C>A (p.Ala2338=) c.6984C>A (p.Ala2328=) c.6936C>A (p.Ala2312=) c.6897C>A (p.Ala2299=) c.6822C>A (p.Ala2274=) n.8693C>A c.7011C>A (p.Ala2337=) c.6981C>A (p.Ala2327=) c.6933C>A (p.Ala2311=) c.6900C>A (p.Ala2300=) c.6870C>A (p.Ala2290=) c.6867C>A (p.Ala2289=) c.6819C>A (p.Ala2273=) c.6783C>A (p.Ala2261=) c.6780C>A (p.Ala2260=) c.6735C>A (p.Ala2245=) n.7400C>A | |
X | g.77520888G>A | CA413707355 | ATRX | c.7100C>T (p.Ala2367Val) c.2198C>T (p.Ala733Val) c.6986C>T (p.Ala2329Val) c.*6728C>T (n.*6728C>T) n.5420C>T n.331C>T c.7097C>T (p.Ala2366Val) c.7013C>T (p.Ala2338Val) c.6983C>T (p.Ala2328Val) c.6935C>T (p.Ala2312Val) c.6896C>T (p.Ala2299Val) c.6821C>T (p.Ala2274Val) n.8692C>T c.7010C>T (p.Ala2337Val) c.6980C>T (p.Ala2327Val) c.6932C>T (p.Ala2311Val) c.6899C>T (p.Ala2300Val) c.6869C>T (p.Ala2290Val) c.6866C>T (p.Ala2289Val) c.6818C>T (p.Ala2273Val) c.6782C>T (p.Ala2261Val) c.6779C>T (p.Ala2260Val) c.6734C>T (p.Ala2245Val) n.7399C>T | dbSNP gnomAD v2 gnomAD v4 |
X | g.77520888G>C | CA413707357 | ATRX | c.7100C>G (p.Ala2367Gly) c.2198C>G (p.Ala733Gly) c.6986C>G (p.Ala2329Gly) c.*6728C>G (n.*6728C>G) n.5420C>G n.331C>G c.7097C>G (p.Ala2366Gly) c.7013C>G (p.Ala2338Gly) c.6983C>G (p.Ala2328Gly) c.6935C>G (p.Ala2312Gly) c.6896C>G (p.Ala2299Gly) c.6821C>G (p.Ala2274Gly) n.8692C>G c.7010C>G (p.Ala2337Gly) c.6980C>G (p.Ala2327Gly) c.6932C>G (p.Ala2311Gly) c.6899C>G (p.Ala2300Gly) c.6869C>G (p.Ala2290Gly) c.6866C>G (p.Ala2289Gly) c.6818C>G (p.Ala2273Gly) c.6782C>G (p.Ala2261Gly) c.6779C>G (p.Ala2260Gly) c.6734C>G (p.Ala2245Gly) n.7399C>G | |
X | g.77520888G= | CA2438933073 | ATRX | c.7100C= (p.Ala2367=) c.2198C= (p.Ala733=) c.6986C= (p.Ala2329=) c.*6728C= (n.*6728C=) n.5420C= n.331C= c.7097C= (p.Ala2366=) c.7013C= (p.Ala2338=) c.6983C= (p.Ala2328=) c.6935C= (p.Ala2312=) c.6896C= (p.Ala2299=) c.6821C= (p.Ala2274=) n.8692C= c.7010C= (p.Ala2337=) c.6980C= (p.Ala2327=) c.6932C= (p.Ala2311=) c.6899C= (p.Ala2300=) c.6869C= (p.Ala2290=) c.6866C= (p.Ala2289=) c.6818C= (p.Ala2273=) c.6782C= (p.Ala2261=) c.6779C= (p.Ala2260=) c.6734C= (p.Ala2245=) n.7399C= | |
X | g.77520888G>T | CA413707359 | ATRX | c.7100C>A (p.Ala2367Asp) c.2198C>A (p.Ala733Asp) c.6986C>A (p.Ala2329Asp) c.*6728C>A (n.*6728C>A) n.5420C>A n.331C>A c.7097C>A (p.Ala2366Asp) c.7013C>A (p.Ala2338Asp) c.6983C>A (p.Ala2328Asp) c.6935C>A (p.Ala2312Asp) c.6896C>A (p.Ala2299Asp) c.6821C>A (p.Ala2274Asp) n.8692C>A c.7010C>A (p.Ala2337Asp) c.6980C>A (p.Ala2327Asp) c.6932C>A (p.Ala2311Asp) c.6899C>A (p.Ala2300Asp) c.6869C>A (p.Ala2290Asp) c.6866C>A (p.Ala2289Asp) c.6818C>A (p.Ala2273Asp) c.6782C>A (p.Ala2261Asp) c.6779C>A (p.Ala2260Asp) c.6734C>A (p.Ala2245Asp) n.7399C>A | |
X | g.77520889C>A | CA413707361 | ATRX | c.7099G>T (p.Ala2367Ser) c.2197G>T (p.Ala733Ser) c.6985G>T (p.Ala2329Ser) c.*6727G>T (n.*6727G>T) n.5419G>T n.330G>T c.7096G>T (p.Ala2366Ser) c.7012G>T (p.Ala2338Ser) c.6982G>T (p.Ala2328Ser) c.6934G>T (p.Ala2312Ser) c.6895G>T (p.Ala2299Ser) c.6820G>T (p.Ala2274Ser) n.8691G>T c.7009G>T (p.Ala2337Ser) c.6979G>T (p.Ala2327Ser) c.6931G>T (p.Ala2311Ser) c.6898G>T (p.Ala2300Ser) c.6868G>T (p.Ala2290Ser) c.6865G>T (p.Ala2289Ser) c.6817G>T (p.Ala2273Ser) c.6781G>T (p.Ala2261Ser) c.6778G>T (p.Ala2260Ser) c.6733G>T (p.Ala2245Ser) n.7398G>T | |
X | g.77520889C>G | CA413707363 | ATRX | c.7099G>C (p.Ala2367Pro) c.2197G>C (p.Ala733Pro) c.6985G>C (p.Ala2329Pro) c.*6727G>C (n.*6727G>C) n.5419G>C n.330G>C c.7096G>C (p.Ala2366Pro) c.7012G>C (p.Ala2338Pro) c.6982G>C (p.Ala2328Pro) c.6934G>C (p.Ala2312Pro) c.6895G>C (p.Ala2299Pro) c.6820G>C (p.Ala2274Pro) n.8691G>C c.7009G>C (p.Ala2337Pro) c.6979G>C (p.Ala2327Pro) c.6931G>C (p.Ala2311Pro) c.6898G>C (p.Ala2300Pro) c.6868G>C (p.Ala2290Pro) c.6865G>C (p.Ala2289Pro) c.6817G>C (p.Ala2273Pro) c.6781G>C (p.Ala2261Pro) c.6778G>C (p.Ala2260Pro) c.6733G>C (p.Ala2245Pro) n.7398G>C | |
X | g.77520889C>T | CA413707365 | ATRX | c.7099G>A (p.Ala2367Thr) c.2197G>A (p.Ala733Thr) c.6985G>A (p.Ala2329Thr) c.*6727G>A (n.*6727G>A) n.5419G>A n.330G>A c.7096G>A (p.Ala2366Thr) c.7012G>A (p.Ala2338Thr) c.6982G>A (p.Ala2328Thr) c.6934G>A (p.Ala2312Thr) c.6895G>A (p.Ala2299Thr) c.6820G>A (p.Ala2274Thr) n.8691G>A c.7009G>A (p.Ala2337Thr) c.6979G>A (p.Ala2327Thr) c.6931G>A (p.Ala2311Thr) c.6898G>A (p.Ala2300Thr) c.6868G>A (p.Ala2290Thr) c.6865G>A (p.Ala2289Thr) c.6817G>A (p.Ala2273Thr) c.6781G>A (p.Ala2261Thr) c.6778G>A (p.Ala2260Thr) c.6733G>A (p.Ala2245Thr) n.7398G>A | |
X | g.77520890C>A | CA413707366 | ATRX | c.7098G>T (p.Glu2366Asp) c.2196G>T (p.Glu732Asp) c.6984G>T (p.Glu2328Asp) c.*6726G>T (n.*6726G>T) n.5418G>T n.329G>T c.7095G>T (p.Glu2365Asp) c.7011G>T (p.Glu2337Asp) c.6981G>T (p.Glu2327Asp) c.6933G>T (p.Glu2311Asp) c.6894G>T (p.Glu2298Asp) c.6819G>T (p.Glu2273Asp) n.8690G>T c.7008G>T (p.Glu2336Asp) c.6978G>T (p.Glu2326Asp) c.6930G>T (p.Glu2310Asp) c.6897G>T (p.Glu2299Asp) c.6867G>T (p.Glu2289Asp) c.6864G>T (p.Glu2288Asp) c.6816G>T (p.Glu2272Asp) c.6780G>T (p.Glu2260Asp) c.6777G>T (p.Glu2259Asp) c.6732G>T (p.Glu2244Asp) n.7397G>T | |
X | g.77520890C>G | CA413707367 | ATRX | c.7098G>C (p.Glu2366Asp) c.2196G>C (p.Glu732Asp) c.6984G>C (p.Glu2328Asp) c.*6726G>C (n.*6726G>C) n.5418G>C n.329G>C c.7095G>C (p.Glu2365Asp) c.7011G>C (p.Glu2337Asp) c.6981G>C (p.Glu2327Asp) c.6933G>C (p.Glu2311Asp) c.6894G>C (p.Glu2298Asp) c.6819G>C (p.Glu2273Asp) n.8690G>C c.7008G>C (p.Glu2336Asp) c.6978G>C (p.Glu2326Asp) c.6930G>C (p.Glu2310Asp) c.6897G>C (p.Glu2299Asp) c.6867G>C (p.Glu2289Asp) c.6864G>C (p.Glu2288Asp) c.6816G>C (p.Glu2272Asp) c.6780G>C (p.Glu2260Asp) c.6777G>C (p.Glu2259Asp) c.6732G>C (p.Glu2244Asp) n.7397G>C | |
X | g.77520890C>T | CA517374424 | ATRX | c.7098G>A (p.Glu2366=) c.2196G>A (p.Glu732=) c.6984G>A (p.Glu2328=) c.*6726G>A (n.*6726G>A) n.5418G>A n.329G>A c.7095G>A (p.Glu2365=) c.7011G>A (p.Glu2337=) c.6981G>A (p.Glu2327=) c.6933G>A (p.Glu2311=) c.6894G>A (p.Glu2298=) c.6819G>A (p.Glu2273=) n.8690G>A c.7008G>A (p.Glu2336=) c.6978G>A (p.Glu2326=) c.6930G>A (p.Glu2310=) c.6897G>A (p.Glu2299=) c.6867G>A (p.Glu2289=) c.6864G>A (p.Glu2288=) c.6816G>A (p.Glu2272=) c.6780G>A (p.Glu2260=) c.6777G>A (p.Glu2259=) c.6732G>A (p.Glu2244=) n.7397G>A | |
X | g.77520891T>A | CA413707370 | ATRX | c.7097A>T (p.Glu2366Val) c.2195A>T (p.Glu732Val) c.6983A>T (p.Glu2328Val) c.*6725A>T (n.*6725A>T) n.5417A>T n.328A>T c.7094A>T (p.Glu2365Val) c.7010A>T (p.Glu2337Val) c.6980A>T (p.Glu2327Val) c.6932A>T (p.Glu2311Val) c.6893A>T (p.Glu2298Val) c.6818A>T (p.Glu2273Val) n.8689A>T c.7007A>T (p.Glu2336Val) c.6977A>T (p.Glu2326Val) c.6929A>T (p.Glu2310Val) c.6896A>T (p.Glu2299Val) c.6866A>T (p.Glu2289Val) c.6863A>T (p.Glu2288Val) c.6815A>T (p.Glu2272Val) c.6779A>T (p.Glu2260Val) c.6776A>T (p.Glu2259Val) c.6731A>T (p.Glu2244Val) n.7396A>T | |
X | g.77520891T>C | CA413707372 | ATRX | c.7097A>G (p.Glu2366Gly) c.2195A>G (p.Glu732Gly) c.6983A>G (p.Glu2328Gly) c.*6725A>G (n.*6725A>G) n.5417A>G n.328A>G c.7094A>G (p.Glu2365Gly) c.7010A>G (p.Glu2337Gly) c.6980A>G (p.Glu2327Gly) c.6932A>G (p.Glu2311Gly) c.6893A>G (p.Glu2298Gly) c.6818A>G (p.Glu2273Gly) n.8689A>G c.7007A>G (p.Glu2336Gly) c.6977A>G (p.Glu2326Gly) c.6929A>G (p.Glu2310Gly) c.6896A>G (p.Glu2299Gly) c.6866A>G (p.Glu2289Gly) c.6863A>G (p.Glu2288Gly) c.6815A>G (p.Glu2272Gly) c.6779A>G (p.Glu2260Gly) c.6776A>G (p.Glu2259Gly) c.6731A>G (p.Glu2244Gly) n.7396A>G | |
X | g.77520891T>G | CA413707373 | ATRX | c.7097A>C (p.Glu2366Ala) c.2195A>C (p.Glu732Ala) c.6983A>C (p.Glu2328Ala) c.*6725A>C (n.*6725A>C) n.5417A>C n.328A>C c.7094A>C (p.Glu2365Ala) c.7010A>C (p.Glu2337Ala) c.6980A>C (p.Glu2327Ala) c.6932A>C (p.Glu2311Ala) c.6893A>C (p.Glu2298Ala) c.6818A>C (p.Glu2273Ala) n.8689A>C c.7007A>C (p.Glu2336Ala) c.6977A>C (p.Glu2326Ala) c.6929A>C (p.Glu2310Ala) c.6896A>C (p.Glu2299Ala) c.6866A>C (p.Glu2289Ala) c.6863A>C (p.Glu2288Ala) c.6815A>C (p.Glu2272Ala) c.6779A>C (p.Glu2260Ala) c.6776A>C (p.Glu2259Ala) c.6731A>C (p.Glu2244Ala) n.7396A>C | |
X | g.77520892C>A | CA413707376 | ATRX | c.7096G>T (p.Glu2366Ter) c.2194G>T (p.Glu732Ter) c.6982G>T (p.Glu2328Ter) c.*6724G>T (n.*6724G>T) n.5416G>T n.327G>T c.7093G>T (p.Glu2365Ter) c.7009G>T (p.Glu2337Ter) c.6979G>T (p.Glu2327Ter) c.6931G>T (p.Glu2311Ter) c.6892G>T (p.Glu2298Ter) c.6817G>T (p.Glu2273Ter) n.8688G>T c.7006G>T (p.Glu2336Ter) c.6976G>T (p.Glu2326Ter) c.6928G>T (p.Glu2310Ter) c.6895G>T (p.Glu2299Ter) c.6865G>T (p.Glu2289Ter) c.6862G>T (p.Glu2288Ter) c.6814G>T (p.Glu2272Ter) c.6778G>T (p.Glu2260Ter) c.6775G>T (p.Glu2259Ter) c.6730G>T (p.Glu2244Ter) n.7395G>T | |
X | g.77520892C>G | CA413707377 | ATRX | c.7096G>C (p.Glu2366Gln) c.2194G>C (p.Glu732Gln) c.6982G>C (p.Glu2328Gln) c.*6724G>C (n.*6724G>C) n.5416G>C n.327G>C c.7093G>C (p.Glu2365Gln) c.7009G>C (p.Glu2337Gln) c.6979G>C (p.Glu2327Gln) c.6931G>C (p.Glu2311Gln) c.6892G>C (p.Glu2298Gln) c.6817G>C (p.Glu2273Gln) n.8688G>C c.7006G>C (p.Glu2336Gln) c.6976G>C (p.Glu2326Gln) c.6928G>C (p.Glu2310Gln) c.6895G>C (p.Glu2299Gln) c.6865G>C (p.Glu2289Gln) c.6862G>C (p.Glu2288Gln) c.6814G>C (p.Glu2272Gln) c.6778G>C (p.Glu2260Gln) c.6775G>C (p.Glu2259Gln) c.6730G>C (p.Glu2244Gln) n.7395G>C | |
X | g.77520892C>T | CA413707381 | ATRX | c.7096G>A (p.Glu2366Lys) c.2194G>A (p.Glu732Lys) c.6982G>A (p.Glu2328Lys) c.*6724G>A (n.*6724G>A) n.5416G>A n.327G>A c.7093G>A (p.Glu2365Lys) c.7009G>A (p.Glu2337Lys) c.6979G>A (p.Glu2327Lys) c.6931G>A (p.Glu2311Lys) c.6892G>A (p.Glu2298Lys) c.6817G>A (p.Glu2273Lys) n.8688G>A c.7006G>A (p.Glu2336Lys) c.6976G>A (p.Glu2326Lys) c.6928G>A (p.Glu2310Lys) c.6895G>A (p.Glu2299Lys) c.6865G>A (p.Glu2289Lys) c.6862G>A (p.Glu2288Lys) c.6814G>A (p.Glu2272Lys) c.6778G>A (p.Glu2260Lys) c.6775G>A (p.Glu2259Lys) c.6730G>A (p.Glu2244Lys) n.7395G>A | |
X | g.77520893T>A | CA517374425 | ATRX | c.7095A>T (p.Ser2365=) c.2193A>T (p.Ser731=) c.6981A>T (p.Ser2327=) c.*6723A>T (n.*6723A>T) n.5415A>T n.326A>T c.7092A>T (p.Ser2364=) c.7008A>T (p.Ser2336=) c.6978A>T (p.Ser2326=) c.6930A>T (p.Ser2310=) c.6891A>T (p.Ser2297=) c.6816A>T (p.Ser2272=) n.8687A>T c.7005A>T (p.Ser2335=) c.6975A>T (p.Ser2325=) c.6927A>T (p.Ser2309=) c.6894A>T (p.Ser2298=) c.6864A>T (p.Ser2288=) c.6861A>T (p.Ser2287=) c.6813A>T (p.Ser2271=) c.6777A>T (p.Ser2259=) c.6774A>T (p.Ser2258=) c.6729A>T (p.Ser2243=) n.7394A>T | |
X | g.77520893T>C | CA517374426 | ATRX | c.7095A>G (p.Ser2365=) c.2193A>G (p.Ser731=) c.6981A>G (p.Ser2327=) c.*6723A>G (n.*6723A>G) n.5415A>G n.326A>G c.7092A>G (p.Ser2364=) c.7008A>G (p.Ser2336=) c.6978A>G (p.Ser2326=) c.6930A>G (p.Ser2310=) c.6891A>G (p.Ser2297=) c.6816A>G (p.Ser2272=) n.8687A>G c.7005A>G (p.Ser2335=) c.6975A>G (p.Ser2325=) c.6927A>G (p.Ser2309=) c.6894A>G (p.Ser2298=) c.6864A>G (p.Ser2288=) c.6861A>G (p.Ser2287=) c.6813A>G (p.Ser2271=) c.6777A>G (p.Ser2259=) c.6774A>G (p.Ser2258=) c.6729A>G (p.Ser2243=) n.7394A>G | dbSNP gnomAD v4 |
X | g.77520893T>G | CA517374427 | ATRX | c.7095A>C (p.Ser2365=) c.2193A>C (p.Ser731=) c.6981A>C (p.Ser2327=) c.*6723A>C (n.*6723A>C) n.5415A>C n.326A>C c.7092A>C (p.Ser2364=) c.7008A>C (p.Ser2336=) c.6978A>C (p.Ser2326=) c.6930A>C (p.Ser2310=) c.6891A>C (p.Ser2297=) c.6816A>C (p.Ser2272=) n.8687A>C c.7005A>C (p.Ser2335=) c.6975A>C (p.Ser2325=) c.6927A>C (p.Ser2309=) c.6894A>C (p.Ser2298=) c.6864A>C (p.Ser2288=) c.6861A>C (p.Ser2287=) c.6813A>C (p.Ser2271=) c.6777A>C (p.Ser2259=) c.6774A>C (p.Ser2258=) c.6729A>C (p.Ser2243=) n.7394A>C | |
X | g.77520893T= | CA2438933074 | ATRX | c.7095A= (p.Ser2365=) c.2193A= (p.Ser731=) c.6981A= (p.Ser2327=) c.*6723A= (n.*6723A=) n.5415A= n.326A= c.7092A= (p.Ser2364=) c.7008A= (p.Ser2336=) c.6978A= (p.Ser2326=) c.6930A= (p.Ser2310=) c.6891A= (p.Ser2297=) c.6816A= (p.Ser2272=) n.8687A= c.7005A= (p.Ser2335=) c.6975A= (p.Ser2325=) c.6927A= (p.Ser2309=) c.6894A= (p.Ser2298=) c.6864A= (p.Ser2288=) c.6861A= (p.Ser2287=) c.6813A= (p.Ser2271=) c.6777A= (p.Ser2259=) c.6774A= (p.Ser2258=) c.6729A= (p.Ser2243=) n.7394A= | |
X | g.77520894G>A | CA413707384 | ATRX | c.7094C>T (p.Ser2365Leu) c.2192C>T (p.Ser731Leu) c.6980C>T (p.Ser2327Leu) c.*6722C>T (n.*6722C>T) n.5414C>T n.325C>T c.7091C>T (p.Ser2364Leu) c.7007C>T (p.Ser2336Leu) c.6977C>T (p.Ser2326Leu) c.6929C>T (p.Ser2310Leu) c.6890C>T (p.Ser2297Leu) c.6815C>T (p.Ser2272Leu) n.8686C>T c.7004C>T (p.Ser2335Leu) c.6974C>T (p.Ser2325Leu) c.6926C>T (p.Ser2309Leu) c.6893C>T (p.Ser2298Leu) c.6863C>T (p.Ser2288Leu) c.6860C>T (p.Ser2287Leu) c.6812C>T (p.Ser2271Leu) c.6776C>T (p.Ser2259Leu) c.6773C>T (p.Ser2258Leu) c.6728C>T (p.Ser2243Leu) n.7393C>T | COSMIC COSMIC |
X | g.77520894G>C | CA413707386 | ATRX | c.7094C>G (p.Ser2365Ter) c.2192C>G (p.Ser731Ter) c.6980C>G (p.Ser2327Ter) c.*6722C>G (n.*6722C>G) n.5414C>G n.325C>G c.7091C>G (p.Ser2364Ter) c.7007C>G (p.Ser2336Ter) c.6977C>G (p.Ser2326Ter) c.6929C>G (p.Ser2310Ter) c.6890C>G (p.Ser2297Ter) c.6815C>G (p.Ser2272Ter) n.8686C>G c.7004C>G (p.Ser2335Ter) c.6974C>G (p.Ser2325Ter) c.6926C>G (p.Ser2309Ter) c.6893C>G (p.Ser2298Ter) c.6863C>G (p.Ser2288Ter) c.6860C>G (p.Ser2287Ter) c.6812C>G (p.Ser2271Ter) c.6776C>G (p.Ser2259Ter) c.6773C>G (p.Ser2258Ter) c.6728C>G (p.Ser2243Ter) n.7393C>G | |
X | g.77520894G>T | CA413707387 | ATRX | c.7094C>A (p.Ser2365Ter) c.2192C>A (p.Ser731Ter) c.6980C>A (p.Ser2327Ter) c.*6722C>A (n.*6722C>A) n.5414C>A n.325C>A c.7091C>A (p.Ser2364Ter) c.7007C>A (p.Ser2336Ter) c.6977C>A (p.Ser2326Ter) c.6929C>A (p.Ser2310Ter) c.6890C>A (p.Ser2297Ter) c.6815C>A (p.Ser2272Ter) n.8686C>A c.7004C>A (p.Ser2335Ter) c.6974C>A (p.Ser2325Ter) c.6926C>A (p.Ser2309Ter) c.6893C>A (p.Ser2298Ter) c.6863C>A (p.Ser2288Ter) c.6860C>A (p.Ser2287Ter) c.6812C>A (p.Ser2271Ter) c.6776C>A (p.Ser2259Ter) c.6773C>A (p.Ser2258Ter) c.6728C>A (p.Ser2243Ter) n.7393C>A | |
X | g.77520895A>C | CA413707390 | ATRX | c.7093T>G (p.Ser2365Ala) c.2191T>G (p.Ser731Ala) c.6979T>G (p.Ser2327Ala) c.*6721T>G (n.*6721T>G) n.5413T>G n.324T>G c.7090T>G (p.Ser2364Ala) c.7006T>G (p.Ser2336Ala) c.6976T>G (p.Ser2326Ala) c.6928T>G (p.Ser2310Ala) c.6889T>G (p.Ser2297Ala) c.6814T>G (p.Ser2272Ala) n.8685T>G c.7003T>G (p.Ser2335Ala) c.6973T>G (p.Ser2325Ala) c.6925T>G (p.Ser2309Ala) c.6892T>G (p.Ser2298Ala) c.6862T>G (p.Ser2288Ala) c.6859T>G (p.Ser2287Ala) c.6811T>G (p.Ser2271Ala) c.6775T>G (p.Ser2259Ala) c.6772T>G (p.Ser2258Ala) c.6727T>G (p.Ser2243Ala) n.7392T>G | |
X | g.77520895A>G | CA413707391 | ATRX | c.7093T>C (p.Ser2365Pro) c.2191T>C (p.Ser731Pro) c.6979T>C (p.Ser2327Pro) c.*6721T>C (n.*6721T>C) n.5413T>C n.324T>C c.7090T>C (p.Ser2364Pro) c.7006T>C (p.Ser2336Pro) c.6976T>C (p.Ser2326Pro) c.6928T>C (p.Ser2310Pro) c.6889T>C (p.Ser2297Pro) c.6814T>C (p.Ser2272Pro) n.8685T>C c.7003T>C (p.Ser2335Pro) c.6973T>C (p.Ser2325Pro) c.6925T>C (p.Ser2309Pro) c.6892T>C (p.Ser2298Pro) c.6862T>C (p.Ser2288Pro) c.6859T>C (p.Ser2287Pro) c.6811T>C (p.Ser2271Pro) c.6775T>C (p.Ser2259Pro) c.6772T>C (p.Ser2258Pro) c.6727T>C (p.Ser2243Pro) n.7392T>C | |
X | g.77520895A>T | CA413707393 | ATRX | c.7093T>A (p.Ser2365Thr) c.2191T>A (p.Ser731Thr) c.6979T>A (p.Ser2327Thr) c.*6721T>A (n.*6721T>A) n.5413T>A n.324T>A c.7090T>A (p.Ser2364Thr) c.7006T>A (p.Ser2336Thr) c.6976T>A (p.Ser2326Thr) c.6928T>A (p.Ser2310Thr) c.6889T>A (p.Ser2297Thr) c.6814T>A (p.Ser2272Thr) n.8685T>A c.7003T>A (p.Ser2335Thr) c.6973T>A (p.Ser2325Thr) c.6925T>A (p.Ser2309Thr) c.6892T>A (p.Ser2298Thr) c.6862T>A (p.Ser2288Thr) c.6859T>A (p.Ser2287Thr) c.6811T>A (p.Ser2271Thr) c.6775T>A (p.Ser2259Thr) c.6772T>A (p.Ser2258Thr) c.6727T>A (p.Ser2243Thr) n.7392T>A | |
X | g.77520896G>A | CA517374428 | ATRX | c.7092C>T (p.Leu2364=) c.2190C>T (p.Leu730=) c.6978C>T (p.Leu2326=) c.*6720C>T (n.*6720C>T) n.5412C>T n.323C>T c.7089C>T (p.Leu2363=) c.7005C>T (p.Leu2335=) c.6975C>T (p.Leu2325=) c.6927C>T (p.Leu2309=) c.6888C>T (p.Leu2296=) c.6813C>T (p.Leu2271=) n.8684C>T c.7002C>T (p.Leu2334=) c.6972C>T (p.Leu2324=) c.6924C>T (p.Leu2308=) c.6891C>T (p.Leu2297=) c.6861C>T (p.Leu2287=) c.6858C>T (p.Leu2286=) c.6810C>T (p.Leu2270=) c.6774C>T (p.Leu2258=) c.6771C>T (p.Leu2257=) c.6726C>T (p.Leu2242=) n.7391C>T | |
X | g.77520896G>C | CA517374429 | ATRX | c.7092C>G (p.Leu2364=) c.2190C>G (p.Leu730=) c.6978C>G (p.Leu2326=) c.*6720C>G (n.*6720C>G) n.5412C>G n.323C>G c.7089C>G (p.Leu2363=) c.7005C>G (p.Leu2335=) c.6975C>G (p.Leu2325=) c.6927C>G (p.Leu2309=) c.6888C>G (p.Leu2296=) c.6813C>G (p.Leu2271=) n.8684C>G c.7002C>G (p.Leu2334=) c.6972C>G (p.Leu2324=) c.6924C>G (p.Leu2308=) c.6891C>G (p.Leu2297=) c.6861C>G (p.Leu2287=) c.6858C>G (p.Leu2286=) c.6810C>G (p.Leu2270=) c.6774C>G (p.Leu2258=) c.6771C>G (p.Leu2257=) c.6726C>G (p.Leu2242=) n.7391C>G | |
X | g.77520896G>T | CA517374430 | ATRX | c.7092C>A (p.Leu2364=) c.2190C>A (p.Leu730=) c.6978C>A (p.Leu2326=) c.*6720C>A (n.*6720C>A) n.5412C>A n.323C>A c.7089C>A (p.Leu2363=) c.7005C>A (p.Leu2335=) c.6975C>A (p.Leu2325=) c.6927C>A (p.Leu2309=) c.6888C>A (p.Leu2296=) c.6813C>A (p.Leu2271=) n.8684C>A c.7002C>A (p.Leu2334=) c.6972C>A (p.Leu2324=) c.6924C>A (p.Leu2308=) c.6891C>A (p.Leu2297=) c.6861C>A (p.Leu2287=) c.6858C>A (p.Leu2286=) c.6810C>A (p.Leu2270=) c.6774C>A (p.Leu2258=) c.6771C>A (p.Leu2257=) c.6726C>A (p.Leu2242=) n.7391C>A | |
X | g.77520897A>C | CA413707399 | ATRX | c.7091T>G (p.Leu2364Arg) c.2189T>G (p.Leu730Arg) c.6977T>G (p.Leu2326Arg) c.*6719T>G (n.*6719T>G) n.5411T>G n.322T>G c.7088T>G (p.Leu2363Arg) c.7004T>G (p.Leu2335Arg) c.6974T>G (p.Leu2325Arg) c.6926T>G (p.Leu2309Arg) c.6887T>G (p.Leu2296Arg) c.6812T>G (p.Leu2271Arg) n.8683T>G c.7001T>G (p.Leu2334Arg) c.6971T>G (p.Leu2324Arg) c.6923T>G (p.Leu2308Arg) c.6890T>G (p.Leu2297Arg) c.6860T>G (p.Leu2287Arg) c.6857T>G (p.Leu2286Arg) c.6809T>G (p.Leu2270Arg) c.6773T>G (p.Leu2258Arg) c.6770T>G (p.Leu2257Arg) c.6725T>G (p.Leu2242Arg) n.7390T>G | |
X | g.77520897A>G | CA413707395 | ATRX | c.7091T>C (p.Leu2364Pro) c.2189T>C (p.Leu730Pro) c.6977T>C (p.Leu2326Pro) c.*6719T>C (n.*6719T>C) n.5411T>C n.322T>C c.7088T>C (p.Leu2363Pro) c.7004T>C (p.Leu2335Pro) c.6974T>C (p.Leu2325Pro) c.6926T>C (p.Leu2309Pro) c.6887T>C (p.Leu2296Pro) c.6812T>C (p.Leu2271Pro) n.8683T>C c.7001T>C (p.Leu2334Pro) c.6971T>C (p.Leu2324Pro) c.6923T>C (p.Leu2308Pro) c.6890T>C (p.Leu2297Pro) c.6860T>C (p.Leu2287Pro) c.6857T>C (p.Leu2286Pro) c.6809T>C (p.Leu2270Pro) c.6773T>C (p.Leu2258Pro) c.6770T>C (p.Leu2257Pro) c.6725T>C (p.Leu2242Pro) n.7390T>C | |
X | g.77520897A>T | CA413707397 | ATRX | c.7091T>A (p.Leu2364His) c.2189T>A (p.Leu730His) c.6977T>A (p.Leu2326His) c.*6719T>A (n.*6719T>A) n.5411T>A n.322T>A c.7088T>A (p.Leu2363His) c.7004T>A (p.Leu2335His) c.6974T>A (p.Leu2325His) c.6926T>A (p.Leu2309His) c.6887T>A (p.Leu2296His) c.6812T>A (p.Leu2271His) n.8683T>A c.7001T>A (p.Leu2334His) c.6971T>A (p.Leu2324His) c.6923T>A (p.Leu2308His) c.6890T>A (p.Leu2297His) c.6860T>A (p.Leu2287His) c.6857T>A (p.Leu2286His) c.6809T>A (p.Leu2270His) c.6773T>A (p.Leu2258His) c.6770T>A (p.Leu2257His) c.6725T>A (p.Leu2242His) n.7390T>A | |
X | g.77520898G>A | CA413707401 | ATRX | c.7090C>T (p.Leu2364Phe) c.2188C>T (p.Leu730Phe) c.6976C>T (p.Leu2326Phe) c.*6718C>T (n.*6718C>T) n.5410C>T n.321C>T c.7087C>T (p.Leu2363Phe) c.7003C>T (p.Leu2335Phe) c.6973C>T (p.Leu2325Phe) c.6925C>T (p.Leu2309Phe) c.6886C>T (p.Leu2296Phe) c.6811C>T (p.Leu2271Phe) n.8682C>T c.7000C>T (p.Leu2334Phe) c.6970C>T (p.Leu2324Phe) c.6922C>T (p.Leu2308Phe) c.6889C>T (p.Leu2297Phe) c.6859C>T (p.Leu2287Phe) c.6856C>T (p.Leu2286Phe) c.6808C>T (p.Leu2270Phe) c.6772C>T (p.Leu2258Phe) c.6769C>T (p.Leu2257Phe) c.6724C>T (p.Leu2242Phe) n.7389C>T | COSMIC COSMIC |
X | g.77520898G>C | CA413707403 | ATRX | c.7090C>G (p.Leu2364Val) c.2188C>G (p.Leu730Val) c.6976C>G (p.Leu2326Val) c.*6718C>G (n.*6718C>G) n.5410C>G n.321C>G c.7087C>G (p.Leu2363Val) c.7003C>G (p.Leu2335Val) c.6973C>G (p.Leu2325Val) c.6925C>G (p.Leu2309Val) c.6886C>G (p.Leu2296Val) c.6811C>G (p.Leu2271Val) n.8682C>G c.7000C>G (p.Leu2334Val) c.6970C>G (p.Leu2324Val) c.6922C>G (p.Leu2308Val) c.6889C>G (p.Leu2297Val) c.6859C>G (p.Leu2287Val) c.6856C>G (p.Leu2286Val) c.6808C>G (p.Leu2270Val) c.6772C>G (p.Leu2258Val) c.6769C>G (p.Leu2257Val) c.6724C>G (p.Leu2242Val) n.7389C>G | |
X | g.77520898G>T | CA413707404 | ATRX | c.7090C>A (p.Leu2364Ile) c.2188C>A (p.Leu730Ile) c.6976C>A (p.Leu2326Ile) c.*6718C>A (n.*6718C>A) n.5410C>A n.321C>A c.7087C>A (p.Leu2363Ile) c.7003C>A (p.Leu2335Ile) c.6973C>A (p.Leu2325Ile) c.6925C>A (p.Leu2309Ile) c.6886C>A (p.Leu2296Ile) c.6811C>A (p.Leu2271Ile) n.8682C>A c.7000C>A (p.Leu2334Ile) c.6970C>A (p.Leu2324Ile) c.6922C>A (p.Leu2308Ile) c.6889C>A (p.Leu2297Ile) c.6859C>A (p.Leu2287Ile) c.6856C>A (p.Leu2286Ile) c.6808C>A (p.Leu2270Ile) c.6772C>A (p.Leu2258Ile) c.6769C>A (p.Leu2257Ile) c.6724C>A (p.Leu2242Ile) n.7389C>A | COSMIC COSMIC |
X | g.77520899A>C | CA413707406 | ATRX | c.7089T>G (p.Asn2363Lys) c.2187T>G (p.Asn729Lys) c.6975T>G (p.Asn2325Lys) c.*6717T>G (n.*6717T>G) n.5409T>G n.320T>G c.7086T>G (p.Asn2362Lys) c.7002T>G (p.Asn2334Lys) c.6972T>G (p.Asn2324Lys) c.6924T>G (p.Asn2308Lys) c.6885T>G (p.Asn2295Lys) c.6810T>G (p.Asn2270Lys) n.8681T>G c.6999T>G (p.Asn2333Lys) c.6969T>G (p.Asn2323Lys) c.6921T>G (p.Asn2307Lys) c.6888T>G (p.Asn2296Lys) c.6858T>G (p.Asn2286Lys) c.6855T>G (p.Asn2285Lys) c.6807T>G (p.Asn2269Lys) c.6771T>G (p.Asn2257Lys) c.6768T>G (p.Asn2256Lys) c.6723T>G (p.Asn2241Lys) n.7388T>G | |
X | g.77520899A>G | CA517374431 | ATRX | c.7089T>C (p.Asn2363=) c.2187T>C (p.Asn729=) c.6975T>C (p.Asn2325=) c.*6717T>C (n.*6717T>C) n.5409T>C n.320T>C c.7086T>C (p.Asn2362=) c.7002T>C (p.Asn2334=) c.6972T>C (p.Asn2324=) c.6924T>C (p.Asn2308=) c.6885T>C (p.Asn2295=) c.6810T>C (p.Asn2270=) n.8681T>C c.6999T>C (p.Asn2333=) c.6969T>C (p.Asn2323=) c.6921T>C (p.Asn2307=) c.6888T>C (p.Asn2296=) c.6858T>C (p.Asn2286=) c.6855T>C (p.Asn2285=) c.6807T>C (p.Asn2269=) c.6771T>C (p.Asn2257=) c.6768T>C (p.Asn2256=) c.6723T>C (p.Asn2241=) n.7388T>C | gnomAD v4 |
X | g.77520899A>T | CA413707408 | ATRX | c.7089T>A (p.Asn2363Lys) c.2187T>A (p.Asn729Lys) c.6975T>A (p.Asn2325Lys) c.*6717T>A (n.*6717T>A) n.5409T>A n.320T>A c.7086T>A (p.Asn2362Lys) c.7002T>A (p.Asn2334Lys) c.6972T>A (p.Asn2324Lys) c.6924T>A (p.Asn2308Lys) c.6885T>A (p.Asn2295Lys) c.6810T>A (p.Asn2270Lys) n.8681T>A c.6999T>A (p.Asn2333Lys) c.6969T>A (p.Asn2323Lys) c.6921T>A (p.Asn2307Lys) c.6888T>A (p.Asn2296Lys) c.6858T>A (p.Asn2286Lys) c.6855T>A (p.Asn2285Lys) c.6807T>A (p.Asn2269Lys) c.6771T>A (p.Asn2257Lys) c.6768T>A (p.Asn2256Lys) c.6723T>A (p.Asn2241Lys) n.7388T>A | |
X | g.77520900T>A | CA413707410 | ATRX | c.7088A>T (p.Asn2363Ile) c.2186A>T (p.Asn729Ile) c.6974A>T (p.Asn2325Ile) c.*6716A>T (n.*6716A>T) n.5408A>T n.319A>T c.7085A>T (p.Asn2362Ile) c.7001A>T (p.Asn2334Ile) c.6971A>T (p.Asn2324Ile) c.6923A>T (p.Asn2308Ile) c.6884A>T (p.Asn2295Ile) c.6809A>T (p.Asn2270Ile) n.8680A>T c.6998A>T (p.Asn2333Ile) c.6968A>T (p.Asn2323Ile) c.6920A>T (p.Asn2307Ile) c.6887A>T (p.Asn2296Ile) c.6857A>T (p.Asn2286Ile) c.6854A>T (p.Asn2285Ile) c.6806A>T (p.Asn2269Ile) c.6770A>T (p.Asn2257Ile) c.6767A>T (p.Asn2256Ile) c.6722A>T (p.Asn2241Ile) n.7387A>T | |
X | g.77520900T>C | CA413707412 | ATRX | c.7088A>G (p.Asn2363Ser) c.2186A>G (p.Asn729Ser) c.6974A>G (p.Asn2325Ser) c.*6716A>G (n.*6716A>G) n.5408A>G n.319A>G c.7085A>G (p.Asn2362Ser) c.7001A>G (p.Asn2334Ser) c.6971A>G (p.Asn2324Ser) c.6923A>G (p.Asn2308Ser) c.6884A>G (p.Asn2295Ser) c.6809A>G (p.Asn2270Ser) n.8680A>G c.6998A>G (p.Asn2333Ser) c.6968A>G (p.Asn2323Ser) c.6920A>G (p.Asn2307Ser) c.6887A>G (p.Asn2296Ser) c.6857A>G (p.Asn2286Ser) c.6854A>G (p.Asn2285Ser) c.6806A>G (p.Asn2269Ser) c.6770A>G (p.Asn2257Ser) c.6767A>G (p.Asn2256Ser) c.6722A>G (p.Asn2241Ser) n.7387A>G | |
X | g.77520900T>G | CA413707414 | ATRX | c.7088A>C (p.Asn2363Thr) c.2186A>C (p.Asn729Thr) c.6974A>C (p.Asn2325Thr) c.*6716A>C (n.*6716A>C) n.5408A>C n.319A>C c.7085A>C (p.Asn2362Thr) c.7001A>C (p.Asn2334Thr) c.6971A>C (p.Asn2324Thr) c.6923A>C (p.Asn2308Thr) c.6884A>C (p.Asn2295Thr) c.6809A>C (p.Asn2270Thr) n.8680A>C c.6998A>C (p.Asn2333Thr) c.6968A>C (p.Asn2323Thr) c.6920A>C (p.Asn2307Thr) c.6887A>C (p.Asn2296Thr) c.6857A>C (p.Asn2286Thr) c.6854A>C (p.Asn2285Thr) c.6806A>C (p.Asn2269Thr) c.6770A>C (p.Asn2257Thr) c.6767A>C (p.Asn2256Thr) c.6722A>C (p.Asn2241Thr) n.7387A>C | |
X | g.77520901T>A | CA413707416 | ATRX | c.7087A>T (p.Asn2363Tyr) c.2185A>T (p.Asn729Tyr) c.6973A>T (p.Asn2325Tyr) c.*6715A>T (n.*6715A>T) n.5407A>T n.318A>T c.7084A>T (p.Asn2362Tyr) c.7000A>T (p.Asn2334Tyr) c.6970A>T (p.Asn2324Tyr) c.6922A>T (p.Asn2308Tyr) c.6883A>T (p.Asn2295Tyr) c.6808A>T (p.Asn2270Tyr) n.8679A>T c.6997A>T (p.Asn2333Tyr) c.6967A>T (p.Asn2323Tyr) c.6919A>T (p.Asn2307Tyr) c.6886A>T (p.Asn2296Tyr) c.6856A>T (p.Asn2286Tyr) c.6853A>T (p.Asn2285Tyr) c.6805A>T (p.Asn2269Tyr) c.6769A>T (p.Asn2257Tyr) c.6766A>T (p.Asn2256Tyr) c.6721A>T (p.Asn2241Tyr) n.7386A>T | |
X | g.77520901T>C | CA413707417 | ATRX | c.7087A>G (p.Asn2363Asp) c.2185A>G (p.Asn729Asp) c.6973A>G (p.Asn2325Asp) c.*6715A>G (n.*6715A>G) n.5407A>G n.318A>G c.7084A>G (p.Asn2362Asp) c.7000A>G (p.Asn2334Asp) c.6970A>G (p.Asn2324Asp) c.6922A>G (p.Asn2308Asp) c.6883A>G (p.Asn2295Asp) c.6808A>G (p.Asn2270Asp) n.8679A>G c.6997A>G (p.Asn2333Asp) c.6967A>G (p.Asn2323Asp) c.6919A>G (p.Asn2307Asp) c.6886A>G (p.Asn2296Asp) c.6856A>G (p.Asn2286Asp) c.6853A>G (p.Asn2285Asp) c.6805A>G (p.Asn2269Asp) c.6769A>G (p.Asn2257Asp) c.6766A>G (p.Asn2256Asp) c.6721A>G (p.Asn2241Asp) n.7386A>G | gnomAD v4 |
X | g.77520901T>G | CA413707418 | ATRX | c.7087A>C (p.Asn2363His) c.2185A>C (p.Asn729His) c.6973A>C (p.Asn2325His) c.*6715A>C (n.*6715A>C) n.5407A>C n.318A>C c.7084A>C (p.Asn2362His) c.7000A>C (p.Asn2334His) c.6970A>C (p.Asn2324His) c.6922A>C (p.Asn2308His) c.6883A>C (p.Asn2295His) c.6808A>C (p.Asn2270His) n.8679A>C c.6997A>C (p.Asn2333His) c.6967A>C (p.Asn2323His) c.6919A>C (p.Asn2307His) c.6886A>C (p.Asn2296His) c.6856A>C (p.Asn2286His) c.6853A>C (p.Asn2285His) c.6805A>C (p.Asn2269His) c.6769A>C (p.Asn2257His) c.6766A>C (p.Asn2256His) c.6721A>C (p.Asn2241His) n.7386A>C | |
X | g.77520902C>A | CA413707421 | ATRX | c.7086G>T (p.Met2362Ile) c.2184G>T (p.Met728Ile) c.6972G>T (p.Met2324Ile) c.*6714G>T (n.*6714G>T) n.5406G>T n.317G>T c.7083G>T (p.Met2361Ile) c.6999G>T (p.Met2333Ile) c.6969G>T (p.Met2323Ile) c.6921G>T (p.Met2307Ile) c.6882G>T (p.Met2294Ile) c.6807G>T (p.Met2269Ile) n.8678G>T c.6996G>T (p.Met2332Ile) c.6966G>T (p.Met2322Ile) c.6918G>T (p.Met2306Ile) c.6885G>T (p.Met2295Ile) c.6855G>T (p.Met2285Ile) c.6852G>T (p.Met2284Ile) c.6804G>T (p.Met2268Ile) c.6768G>T (p.Met2256Ile) c.6765G>T (p.Met2255Ile) c.6720G>T (p.Met2240Ile) n.7385G>T | |
X | g.77520902C= | CA2438933075 | ATRX | c.7086G= (p.Met2362=) c.2184G= (p.Met728=) c.6972G= (p.Met2324=) c.*6714G= (n.*6714G=) n.5406G= n.317G= c.7083G= (p.Met2361=) c.6999G= (p.Met2333=) c.6969G= (p.Met2323=) c.6921G= (p.Met2307=) c.6882G= (p.Met2294=) c.6807G= (p.Met2269=) n.8678G= c.6996G= (p.Met2332=) c.6966G= (p.Met2322=) c.6918G= (p.Met2306=) c.6885G= (p.Met2295=) c.6855G= (p.Met2285=) c.6852G= (p.Met2284=) c.6804G= (p.Met2268=) c.6768G= (p.Met2256=) c.6765G= (p.Met2255=) c.6720G= (p.Met2240=) n.7385G= | |
X | g.77520902C>G | CA413707423 | ATRX | c.7086G>C (p.Met2362Ile) c.2184G>C (p.Met728Ile) c.6972G>C (p.Met2324Ile) c.*6714G>C (n.*6714G>C) n.5406G>C n.317G>C c.7083G>C (p.Met2361Ile) c.6999G>C (p.Met2333Ile) c.6969G>C (p.Met2323Ile) c.6921G>C (p.Met2307Ile) c.6882G>C (p.Met2294Ile) c.6807G>C (p.Met2269Ile) n.8678G>C c.6996G>C (p.Met2332Ile) c.6966G>C (p.Met2322Ile) c.6918G>C (p.Met2306Ile) c.6885G>C (p.Met2295Ile) c.6855G>C (p.Met2285Ile) c.6852G>C (p.Met2284Ile) c.6804G>C (p.Met2268Ile) c.6768G>C (p.Met2256Ile) c.6765G>C (p.Met2255Ile) c.6720G>C (p.Met2240Ile) n.7385G>C | gnomAD v4 |
X | g.77520902C>T | CA413707419 | ATRX | c.7086G>A (p.Met2362Ile) c.2184G>A (p.Met728Ile) c.6972G>A (p.Met2324Ile) c.*6714G>A (n.*6714G>A) n.5406G>A n.317G>A c.7083G>A (p.Met2361Ile) c.6999G>A (p.Met2333Ile) c.6969G>A (p.Met2323Ile) c.6921G>A (p.Met2307Ile) c.6882G>A (p.Met2294Ile) c.6807G>A (p.Met2269Ile) n.8678G>A c.6996G>A (p.Met2332Ile) c.6966G>A (p.Met2322Ile) c.6918G>A (p.Met2306Ile) c.6885G>A (p.Met2295Ile) c.6855G>A (p.Met2285Ile) c.6852G>A (p.Met2284Ile) c.6804G>A (p.Met2268Ile) c.6768G>A (p.Met2256Ile) c.6765G>A (p.Met2255Ile) c.6720G>A (p.Met2240Ile) n.7385G>A | dbSNP |
X | g.77520903A>C | CA413707429 | ATRX | c.7085T>G (p.Met2362Arg) c.2183T>G (p.Met728Arg) c.6971T>G (p.Met2324Arg) c.*6713T>G (n.*6713T>G) n.5405T>G n.316T>G c.7082T>G (p.Met2361Arg) c.6998T>G (p.Met2333Arg) c.6968T>G (p.Met2323Arg) c.6920T>G (p.Met2307Arg) c.6881T>G (p.Met2294Arg) c.6806T>G (p.Met2269Arg) n.8677T>G c.6995T>G (p.Met2332Arg) c.6965T>G (p.Met2322Arg) c.6917T>G (p.Met2306Arg) c.6884T>G (p.Met2295Arg) c.6854T>G (p.Met2285Arg) c.6851T>G (p.Met2284Arg) c.6803T>G (p.Met2268Arg) c.6767T>G (p.Met2256Arg) c.6764T>G (p.Met2255Arg) c.6719T>G (p.Met2240Arg) n.7384T>G | |
X | g.77520903A>G | CA413707425 | ATRX | c.7085T>C (p.Met2362Thr) c.2183T>C (p.Met728Thr) c.6971T>C (p.Met2324Thr) c.*6713T>C (n.*6713T>C) n.5405T>C n.316T>C c.7082T>C (p.Met2361Thr) c.6998T>C (p.Met2333Thr) c.6968T>C (p.Met2323Thr) c.6920T>C (p.Met2307Thr) c.6881T>C (p.Met2294Thr) c.6806T>C (p.Met2269Thr) n.8677T>C c.6995T>C (p.Met2332Thr) c.6965T>C (p.Met2322Thr) c.6917T>C (p.Met2306Thr) c.6884T>C (p.Met2295Thr) c.6854T>C (p.Met2285Thr) c.6851T>C (p.Met2284Thr) c.6803T>C (p.Met2268Thr) c.6767T>C (p.Met2256Thr) c.6764T>C (p.Met2255Thr) c.6719T>C (p.Met2240Thr) n.7384T>C | gnomAD v4 |
X | g.77520903A>T | CA413707427 | ATRX | c.7085T>A (p.Met2362Lys) c.2183T>A (p.Met728Lys) c.6971T>A (p.Met2324Lys) c.*6713T>A (n.*6713T>A) n.5405T>A n.316T>A c.7082T>A (p.Met2361Lys) c.6998T>A (p.Met2333Lys) c.6968T>A (p.Met2323Lys) c.6920T>A (p.Met2307Lys) c.6881T>A (p.Met2294Lys) c.6806T>A (p.Met2269Lys) n.8677T>A c.6995T>A (p.Met2332Lys) c.6965T>A (p.Met2322Lys) c.6917T>A (p.Met2306Lys) c.6884T>A (p.Met2295Lys) c.6854T>A (p.Met2285Lys) c.6851T>A (p.Met2284Lys) c.6803T>A (p.Met2268Lys) c.6767T>A (p.Met2256Lys) c.6764T>A (p.Met2255Lys) c.6719T>A (p.Met2240Lys) n.7384T>A | |
X | g.77520904T>A | CA413707431 | ATRX | c.7084A>T (p.Met2362Leu) c.2182A>T (p.Met728Leu) c.6970A>T (p.Met2324Leu) c.*6712A>T (n.*6712A>T) n.5404A>T n.315A>T c.7081A>T (p.Met2361Leu) c.6997A>T (p.Met2333Leu) c.6967A>T (p.Met2323Leu) c.6919A>T (p.Met2307Leu) c.6880A>T (p.Met2294Leu) c.6805A>T (p.Met2269Leu) n.8676A>T c.6994A>T (p.Met2332Leu) c.6964A>T (p.Met2322Leu) c.6916A>T (p.Met2306Leu) c.6883A>T (p.Met2295Leu) c.6853A>T (p.Met2285Leu) c.6850A>T (p.Met2284Leu) c.6802A>T (p.Met2268Leu) c.6766A>T (p.Met2256Leu) c.6763A>T (p.Met2255Leu) c.6718A>T (p.Met2240Leu) n.7383A>T | |
X | g.77520904T>C | CA413707433 | ATRX | c.7084A>G (p.Met2362Val) c.2182A>G (p.Met728Val) c.6970A>G (p.Met2324Val) c.*6712A>G (n.*6712A>G) n.5404A>G n.315A>G c.7081A>G (p.Met2361Val) c.6997A>G (p.Met2333Val) c.6967A>G (p.Met2323Val) c.6919A>G (p.Met2307Val) c.6880A>G (p.Met2294Val) c.6805A>G (p.Met2269Val) n.8676A>G c.6994A>G (p.Met2332Val) c.6964A>G (p.Met2322Val) c.6916A>G (p.Met2306Val) c.6883A>G (p.Met2295Val) c.6853A>G (p.Met2285Val) c.6850A>G (p.Met2284Val) c.6802A>G (p.Met2268Val) c.6766A>G (p.Met2256Val) c.6763A>G (p.Met2255Val) c.6718A>G (p.Met2240Val) n.7383A>G | ClinVar dbSNP |
X | g.77520904T>G | CA413707434 | ATRX | c.7084A>C (p.Met2362Leu) c.2182A>C (p.Met728Leu) c.6970A>C (p.Met2324Leu) c.*6712A>C (n.*6712A>C) n.5404A>C n.315A>C c.7081A>C (p.Met2361Leu) c.6997A>C (p.Met2333Leu) c.6967A>C (p.Met2323Leu) c.6919A>C (p.Met2307Leu) c.6880A>C (p.Met2294Leu) c.6805A>C (p.Met2269Leu) n.8676A>C c.6994A>C (p.Met2332Leu) c.6964A>C (p.Met2322Leu) c.6916A>C (p.Met2306Leu) c.6883A>C (p.Met2295Leu) c.6853A>C (p.Met2285Leu) c.6850A>C (p.Met2284Leu) c.6802A>C (p.Met2268Leu) c.6766A>C (p.Met2256Leu) c.6763A>C (p.Met2255Leu) c.6718A>C (p.Met2240Leu) n.7383A>C | |
X | g.77520905G>A | CA10457423 | ATRX | c.7083C>T (p.Asn2361=) c.2181C>T (p.Asn727=) c.6969C>T (p.Asn2323=) c.*6711C>T (n.*6711C>T) n.5403C>T n.314C>T c.7080C>T (p.Asn2360=) c.6996C>T (p.Asn2332=) c.6966C>T (p.Asn2322=) c.6918C>T (p.Asn2306=) c.6879C>T (p.Asn2293=) c.6804C>T (p.Asn2268=) n.8675C>T c.6993C>T (p.Asn2331=) c.6963C>T (p.Asn2321=) c.6915C>T (p.Asn2305=) c.6882C>T (p.Asn2294=) c.6852C>T (p.Asn2284=) c.6849C>T (p.Asn2283=) c.6801C>T (p.Asn2267=) c.6765C>T (p.Asn2255=) c.6762C>T (p.Asn2254=) c.6717C>T (p.Asn2239=) n.7382C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.77520905G>C | CA413707438 | ATRX | c.7083C>G (p.Asn2361Lys) c.2181C>G (p.Asn727Lys) c.6969C>G (p.Asn2323Lys) c.*6711C>G (n.*6711C>G) n.5403C>G n.314C>G c.7080C>G (p.Asn2360Lys) c.6996C>G (p.Asn2332Lys) c.6966C>G (p.Asn2322Lys) c.6918C>G (p.Asn2306Lys) c.6879C>G (p.Asn2293Lys) c.6804C>G (p.Asn2268Lys) n.8675C>G c.6993C>G (p.Asn2331Lys) c.6963C>G (p.Asn2321Lys) c.6915C>G (p.Asn2305Lys) c.6882C>G (p.Asn2294Lys) c.6852C>G (p.Asn2284Lys) c.6849C>G (p.Asn2283Lys) c.6801C>G (p.Asn2267Lys) c.6765C>G (p.Asn2255Lys) c.6762C>G (p.Asn2254Lys) c.6717C>G (p.Asn2239Lys) n.7382C>G | |
X | g.77520905G= | CA2438933076 | ATRX | c.7083C= (p.Asn2361=) c.2181C= (p.Asn727=) c.6969C= (p.Asn2323=) c.*6711C= (n.*6711C=) n.5403C= n.314C= c.7080C= (p.Asn2360=) c.6996C= (p.Asn2332=) c.6966C= (p.Asn2322=) c.6918C= (p.Asn2306=) c.6879C= (p.Asn2293=) c.6804C= (p.Asn2268=) n.8675C= c.6993C= (p.Asn2331=) c.6963C= (p.Asn2321=) c.6915C= (p.Asn2305=) c.6882C= (p.Asn2294=) c.6852C= (p.Asn2284=) c.6849C= (p.Asn2283=) c.6801C= (p.Asn2267=) c.6765C= (p.Asn2255=) c.6762C= (p.Asn2254=) c.6717C= (p.Asn2239=) n.7382C= | |
X | g.77520905G>T | CA413707439 | ATRX | c.7083C>A (p.Asn2361Lys) c.2181C>A (p.Asn727Lys) c.6969C>A (p.Asn2323Lys) c.*6711C>A (n.*6711C>A) n.5403C>A n.314C>A c.7080C>A (p.Asn2360Lys) c.6996C>A (p.Asn2332Lys) c.6966C>A (p.Asn2322Lys) c.6918C>A (p.Asn2306Lys) c.6879C>A (p.Asn2293Lys) c.6804C>A (p.Asn2268Lys) n.8675C>A c.6993C>A (p.Asn2331Lys) c.6963C>A (p.Asn2321Lys) c.6915C>A (p.Asn2305Lys) c.6882C>A (p.Asn2294Lys) c.6852C>A (p.Asn2284Lys) c.6849C>A (p.Asn2283Lys) c.6801C>A (p.Asn2267Lys) c.6765C>A (p.Asn2255Lys) c.6762C>A (p.Asn2254Lys) c.6717C>A (p.Asn2239Lys) n.7382C>A | |
X | g.77520906T>A | CA413707442 | ATRX | c.7082A>T (p.Asn2361Ile) c.2180A>T (p.Asn727Ile) c.6968A>T (p.Asn2323Ile) c.*6710A>T (n.*6710A>T) n.5402A>T n.313A>T c.7079A>T (p.Asn2360Ile) c.6995A>T (p.Asn2332Ile) c.6965A>T (p.Asn2322Ile) c.6917A>T (p.Asn2306Ile) c.6878A>T (p.Asn2293Ile) c.6803A>T (p.Asn2268Ile) n.8674A>T c.6992A>T (p.Asn2331Ile) c.6962A>T (p.Asn2321Ile) c.6914A>T (p.Asn2305Ile) c.6881A>T (p.Asn2294Ile) c.6851A>T (p.Asn2284Ile) c.6848A>T (p.Asn2283Ile) c.6800A>T (p.Asn2267Ile) c.6764A>T (p.Asn2255Ile) c.6761A>T (p.Asn2254Ile) c.6716A>T (p.Asn2239Ile) n.7381A>T | |
X | g.77520906T>C | CA413707444 | ATRX | c.7082A>G (p.Asn2361Ser) c.2180A>G (p.Asn727Ser) c.6968A>G (p.Asn2323Ser) c.*6710A>G (n.*6710A>G) n.5402A>G n.313A>G c.7079A>G (p.Asn2360Ser) c.6995A>G (p.Asn2332Ser) c.6965A>G (p.Asn2322Ser) c.6917A>G (p.Asn2306Ser) c.6878A>G (p.Asn2293Ser) c.6803A>G (p.Asn2268Ser) n.8674A>G c.6992A>G (p.Asn2331Ser) c.6962A>G (p.Asn2321Ser) c.6914A>G (p.Asn2305Ser) c.6881A>G (p.Asn2294Ser) c.6851A>G (p.Asn2284Ser) c.6848A>G (p.Asn2283Ser) c.6800A>G (p.Asn2267Ser) c.6764A>G (p.Asn2255Ser) c.6761A>G (p.Asn2254Ser) c.6716A>G (p.Asn2239Ser) n.7381A>G | |
X | g.77520906T>G | CA413707446 | ATRX | c.7082A>C (p.Asn2361Thr) c.2180A>C (p.Asn727Thr) c.6968A>C (p.Asn2323Thr) c.*6710A>C (n.*6710A>C) n.5402A>C n.313A>C c.7079A>C (p.Asn2360Thr) c.6995A>C (p.Asn2332Thr) c.6965A>C (p.Asn2322Thr) c.6917A>C (p.Asn2306Thr) c.6878A>C (p.Asn2293Thr) c.6803A>C (p.Asn2268Thr) n.8674A>C c.6992A>C (p.Asn2331Thr) c.6962A>C (p.Asn2321Thr) c.6914A>C (p.Asn2305Thr) c.6881A>C (p.Asn2294Thr) c.6851A>C (p.Asn2284Thr) c.6848A>C (p.Asn2283Thr) c.6800A>C (p.Asn2267Thr) c.6764A>C (p.Asn2255Thr) c.6761A>C (p.Asn2254Thr) c.6716A>C (p.Asn2239Thr) n.7381A>C | |
X | g.77520907T>A | CA413707448 | ATRX | c.7081A>T (p.Asn2361Tyr) c.2179A>T (p.Asn727Tyr) c.6967A>T (p.Asn2323Tyr) c.*6709A>T (n.*6709A>T) n.5401A>T n.312A>T c.7078A>T (p.Asn2360Tyr) c.6994A>T (p.Asn2332Tyr) c.6964A>T (p.Asn2322Tyr) c.6916A>T (p.Asn2306Tyr) c.6877A>T (p.Asn2293Tyr) c.6802A>T (p.Asn2268Tyr) n.8673A>T c.6991A>T (p.Asn2331Tyr) c.6961A>T (p.Asn2321Tyr) c.6913A>T (p.Asn2305Tyr) c.6880A>T (p.Asn2294Tyr) c.6850A>T (p.Asn2284Tyr) c.6847A>T (p.Asn2283Tyr) c.6799A>T (p.Asn2267Tyr) c.6763A>T (p.Asn2255Tyr) c.6760A>T (p.Asn2254Tyr) c.6715A>T (p.Asn2239Tyr) n.7380A>T | |
X | g.77520907T>C | CA413707450 | ATRX | c.7081A>G (p.Asn2361Asp) c.2179A>G (p.Asn727Asp) c.6967A>G (p.Asn2323Asp) c.*6709A>G (n.*6709A>G) n.5401A>G n.312A>G c.7078A>G (p.Asn2360Asp) c.6994A>G (p.Asn2332Asp) c.6964A>G (p.Asn2322Asp) c.6916A>G (p.Asn2306Asp) c.6877A>G (p.Asn2293Asp) c.6802A>G (p.Asn2268Asp) n.8673A>G c.6991A>G (p.Asn2331Asp) c.6961A>G (p.Asn2321Asp) c.6913A>G (p.Asn2305Asp) c.6880A>G (p.Asn2294Asp) c.6850A>G (p.Asn2284Asp) c.6847A>G (p.Asn2283Asp) c.6799A>G (p.Asn2267Asp) c.6763A>G (p.Asn2255Asp) c.6760A>G (p.Asn2254Asp) c.6715A>G (p.Asn2239Asp) n.7380A>G | |
X | g.77520907T>G | CA413707451 | ATRX | c.7081A>C (p.Asn2361His) c.2179A>C (p.Asn727His) c.6967A>C (p.Asn2323His) c.*6709A>C (n.*6709A>C) n.5401A>C n.312A>C c.7078A>C (p.Asn2360His) c.6994A>C (p.Asn2332His) c.6964A>C (p.Asn2322His) c.6916A>C (p.Asn2306His) c.6877A>C (p.Asn2293His) c.6802A>C (p.Asn2268His) n.8673A>C c.6991A>C (p.Asn2331His) c.6961A>C (p.Asn2321His) c.6913A>C (p.Asn2305His) c.6880A>C (p.Asn2294His) c.6850A>C (p.Asn2284His) c.6847A>C (p.Asn2283His) c.6799A>C (p.Asn2267His) c.6763A>C (p.Asn2255His) c.6760A>C (p.Asn2254His) c.6715A>C (p.Asn2239His) n.7380A>C | |
X | g.77520908C>A | CA413707453 | ATRX | c.7080G>T (p.Glu2360Asp) c.2178G>T (p.Glu726Asp) c.6966G>T (p.Glu2322Asp) c.*6708G>T (n.*6708G>T) n.5400G>T n.311G>T c.7077G>T (p.Glu2359Asp) c.6993G>T (p.Glu2331Asp) c.6963G>T (p.Glu2321Asp) c.6915G>T (p.Glu2305Asp) c.6876G>T (p.Glu2292Asp) c.6801G>T (p.Glu2267Asp) n.8672G>T c.6990G>T (p.Glu2330Asp) c.6960G>T (p.Glu2320Asp) c.6912G>T (p.Glu2304Asp) c.6879G>T (p.Glu2293Asp) c.6849G>T (p.Glu2283Asp) c.6846G>T (p.Glu2282Asp) c.6798G>T (p.Glu2266Asp) c.6762G>T (p.Glu2254Asp) c.6759G>T (p.Glu2253Asp) c.6714G>T (p.Glu2238Asp) n.7379G>T | |
X | g.77520908C>G | CA413707455 | ATRX | c.7080G>C (p.Glu2360Asp) c.2178G>C (p.Glu726Asp) c.6966G>C (p.Glu2322Asp) c.*6708G>C (n.*6708G>C) n.5400G>C n.311G>C c.7077G>C (p.Glu2359Asp) c.6993G>C (p.Glu2331Asp) c.6963G>C (p.Glu2321Asp) c.6915G>C (p.Glu2305Asp) c.6876G>C (p.Glu2292Asp) c.6801G>C (p.Glu2267Asp) n.8672G>C c.6990G>C (p.Glu2330Asp) c.6960G>C (p.Glu2320Asp) c.6912G>C (p.Glu2304Asp) c.6879G>C (p.Glu2293Asp) c.6849G>C (p.Glu2283Asp) c.6846G>C (p.Glu2282Asp) c.6798G>C (p.Glu2266Asp) c.6762G>C (p.Glu2254Asp) c.6759G>C (p.Glu2253Asp) c.6714G>C (p.Glu2238Asp) n.7379G>C | |
X | g.77520908C>T | CA517374432 | ATRX | c.7080G>A (p.Glu2360=) c.2178G>A (p.Glu726=) c.6966G>A (p.Glu2322=) c.*6708G>A (n.*6708G>A) n.5400G>A n.311G>A c.7077G>A (p.Glu2359=) c.6993G>A (p.Glu2331=) c.6963G>A (p.Glu2321=) c.6915G>A (p.Glu2305=) c.6876G>A (p.Glu2292=) c.6801G>A (p.Glu2267=) n.8672G>A c.6990G>A (p.Glu2330=) c.6960G>A (p.Glu2320=) c.6912G>A (p.Glu2304=) c.6879G>A (p.Glu2293=) c.6849G>A (p.Glu2283=) c.6846G>A (p.Glu2282=) c.6798G>A (p.Glu2266=) c.6762G>A (p.Glu2254=) c.6759G>A (p.Glu2253=) c.6714G>A (p.Glu2238=) n.7379G>A | |
X | g.77520909T>A | CA413707457 | ATRX | c.7079A>T (p.Glu2360Val) c.2177A>T (p.Glu726Val) c.6965A>T (p.Glu2322Val) c.*6707A>T (n.*6707A>T) n.5399A>T n.310A>T c.7076A>T (p.Glu2359Val) c.6992A>T (p.Glu2331Val) c.6962A>T (p.Glu2321Val) c.6914A>T (p.Glu2305Val) c.6875A>T (p.Glu2292Val) c.6800A>T (p.Glu2267Val) n.8671A>T c.6989A>T (p.Glu2330Val) c.6959A>T (p.Glu2320Val) c.6911A>T (p.Glu2304Val) c.6878A>T (p.Glu2293Val) c.6848A>T (p.Glu2283Val) c.6845A>T (p.Glu2282Val) c.6797A>T (p.Glu2266Val) c.6761A>T (p.Glu2254Val) c.6758A>T (p.Glu2253Val) c.6713A>T (p.Glu2238Val) n.7378A>T | |
X | g.77520909T>C | CA413707458 | ATRX | c.7079A>G (p.Glu2360Gly) c.2177A>G (p.Glu726Gly) c.6965A>G (p.Glu2322Gly) c.*6707A>G (n.*6707A>G) n.5399A>G n.310A>G c.7076A>G (p.Glu2359Gly) c.6992A>G (p.Glu2331Gly) c.6962A>G (p.Glu2321Gly) c.6914A>G (p.Glu2305Gly) c.6875A>G (p.Glu2292Gly) c.6800A>G (p.Glu2267Gly) n.8671A>G c.6989A>G (p.Glu2330Gly) c.6959A>G (p.Glu2320Gly) c.6911A>G (p.Glu2304Gly) c.6878A>G (p.Glu2293Gly) c.6848A>G (p.Glu2283Gly) c.6845A>G (p.Glu2282Gly) c.6797A>G (p.Glu2266Gly) c.6761A>G (p.Glu2254Gly) c.6758A>G (p.Glu2253Gly) c.6713A>G (p.Glu2238Gly) n.7378A>G | dbSNP gnomAD v2 gnomAD v4 |
X | g.77520909T>G | CA413707460 | ATRX | c.7079A>C (p.Glu2360Ala) c.2177A>C (p.Glu726Ala) c.6965A>C (p.Glu2322Ala) c.*6707A>C (n.*6707A>C) n.5399A>C n.310A>C c.7076A>C (p.Glu2359Ala) c.6992A>C (p.Glu2331Ala) c.6962A>C (p.Glu2321Ala) c.6914A>C (p.Glu2305Ala) c.6875A>C (p.Glu2292Ala) c.6800A>C (p.Glu2267Ala) n.8671A>C c.6989A>C (p.Glu2330Ala) c.6959A>C (p.Glu2320Ala) c.6911A>C (p.Glu2304Ala) c.6878A>C (p.Glu2293Ala) c.6848A>C (p.Glu2283Ala) c.6845A>C (p.Glu2282Ala) c.6797A>C (p.Glu2266Ala) c.6761A>C (p.Glu2254Ala) c.6758A>C (p.Glu2253Ala) c.6713A>C (p.Glu2238Ala) n.7378A>C | |
X | g.77520909T= | CA2438933077 | ATRX | c.7079A= (p.Glu2360=) c.2177A= (p.Glu726=) c.6965A= (p.Glu2322=) c.*6707A= (n.*6707A=) n.5399A= n.310A= c.7076A= (p.Glu2359=) c.6992A= (p.Glu2331=) c.6962A= (p.Glu2321=) c.6914A= (p.Glu2305=) c.6875A= (p.Glu2292=) c.6800A= (p.Glu2267=) n.8671A= c.6989A= (p.Glu2330=) c.6959A= (p.Glu2320=) c.6911A= (p.Glu2304=) c.6878A= (p.Glu2293=) c.6848A= (p.Glu2283=) c.6845A= (p.Glu2282=) c.6797A= (p.Glu2266=) c.6761A= (p.Glu2254=) c.6758A= (p.Glu2253=) c.6713A= (p.Glu2238=) n.7378A= | |
X | g.77520910C>A | CA413707463 | ATRX | c.7078G>T (p.Glu2360Ter) c.2176G>T (p.Glu726Ter) c.6964G>T (p.Glu2322Ter) c.*6706G>T (n.*6706G>T) n.5398G>T n.309G>T c.7075G>T (p.Glu2359Ter) c.6991G>T (p.Glu2331Ter) c.6961G>T (p.Glu2321Ter) c.6913G>T (p.Glu2305Ter) c.6874G>T (p.Glu2292Ter) c.6799G>T (p.Glu2267Ter) n.8670G>T c.6988G>T (p.Glu2330Ter) c.6958G>T (p.Glu2320Ter) c.6910G>T (p.Glu2304Ter) c.6877G>T (p.Glu2293Ter) c.6847G>T (p.Glu2283Ter) c.6844G>T (p.Glu2282Ter) c.6796G>T (p.Glu2266Ter) c.6760G>T (p.Glu2254Ter) c.6757G>T (p.Glu2253Ter) c.6712G>T (p.Glu2238Ter) n.7377G>T | |
X | g.77520910C= | CA2438933078 | ATRX | c.7078G= (p.Glu2360=) c.2176G= (p.Glu726=) c.6964G= (p.Glu2322=) c.*6706G= (n.*6706G=) n.5398G= n.309G= c.7075G= (p.Glu2359=) c.6991G= (p.Glu2331=) c.6961G= (p.Glu2321=) c.6913G= (p.Glu2305=) c.6874G= (p.Glu2292=) c.6799G= (p.Glu2267=) n.8670G= c.6988G= (p.Glu2330=) c.6958G= (p.Glu2320=) c.6910G= (p.Glu2304=) c.6877G= (p.Glu2293=) c.6847G= (p.Glu2283=) c.6844G= (p.Glu2282=) c.6796G= (p.Glu2266=) c.6760G= (p.Glu2254=) c.6757G= (p.Glu2253=) c.6712G= (p.Glu2238=) n.7377G= | |
X | g.77520910C>G | CA413707464 | ATRX | c.7078G>C (p.Glu2360Gln) c.2176G>C (p.Glu726Gln) c.6964G>C (p.Glu2322Gln) c.*6706G>C (n.*6706G>C) n.5398G>C n.309G>C c.7075G>C (p.Glu2359Gln) c.6991G>C (p.Glu2331Gln) c.6961G>C (p.Glu2321Gln) c.6913G>C (p.Glu2305Gln) c.6874G>C (p.Glu2292Gln) c.6799G>C (p.Glu2267Gln) n.8670G>C c.6988G>C (p.Glu2330Gln) c.6958G>C (p.Glu2320Gln) c.6910G>C (p.Glu2304Gln) c.6877G>C (p.Glu2293Gln) c.6847G>C (p.Glu2283Gln) c.6844G>C (p.Glu2282Gln) c.6796G>C (p.Glu2266Gln) c.6760G>C (p.Glu2254Gln) c.6757G>C (p.Glu2253Gln) c.6712G>C (p.Glu2238Gln) n.7377G>C | |
X | g.77520910C>T | CA413707465 | ATRX | c.7078G>A (p.Glu2360Lys) c.2176G>A (p.Glu726Lys) c.6964G>A (p.Glu2322Lys) c.*6706G>A (n.*6706G>A) n.5398G>A n.309G>A c.7075G>A (p.Glu2359Lys) c.6991G>A (p.Glu2331Lys) c.6961G>A (p.Glu2321Lys) c.6913G>A (p.Glu2305Lys) c.6874G>A (p.Glu2292Lys) c.6799G>A (p.Glu2267Lys) n.8670G>A c.6988G>A (p.Glu2330Lys) c.6958G>A (p.Glu2320Lys) c.6910G>A (p.Glu2304Lys) c.6877G>A (p.Glu2293Lys) c.6847G>A (p.Glu2283Lys) c.6844G>A (p.Glu2282Lys) c.6796G>A (p.Glu2266Lys) c.6760G>A (p.Glu2254Lys) c.6757G>A (p.Glu2253Lys) c.6712G>A (p.Glu2238Lys) n.7377G>A | dbSNP |
X | g.77520911C>A | CA413707466 | ATRX | c.7077G>T (p.Lys2359Asn) c.2175G>T (p.Lys725Asn) c.6963G>T (p.Lys2321Asn) c.*6705G>T (n.*6705G>T) n.5397G>T n.308G>T c.7074G>T (p.Lys2358Asn) c.6990G>T (p.Lys2330Asn) c.6960G>T (p.Lys2320Asn) c.6912G>T (p.Lys2304Asn) c.6873G>T (p.Lys2291Asn) c.6798G>T (p.Lys2266Asn) n.8669G>T c.6987G>T (p.Lys2329Asn) c.6957G>T (p.Lys2319Asn) c.6909G>T (p.Lys2303Asn) c.6876G>T (p.Lys2292Asn) c.6846G>T (p.Lys2282Asn) c.6843G>T (p.Lys2281Asn) c.6795G>T (p.Lys2265Asn) c.6759G>T (p.Lys2253Asn) c.6756G>T (p.Lys2252Asn) c.6711G>T (p.Lys2237Asn) n.7376G>T | |
X | g.77520911C>G | CA413707467 | ATRX | c.7077G>C (p.Lys2359Asn) c.2175G>C (p.Lys725Asn) c.6963G>C (p.Lys2321Asn) c.*6705G>C (n.*6705G>C) n.5397G>C n.308G>C c.7074G>C (p.Lys2358Asn) c.6990G>C (p.Lys2330Asn) c.6960G>C (p.Lys2320Asn) c.6912G>C (p.Lys2304Asn) c.6873G>C (p.Lys2291Asn) c.6798G>C (p.Lys2266Asn) n.8669G>C c.6987G>C (p.Lys2329Asn) c.6957G>C (p.Lys2319Asn) c.6909G>C (p.Lys2303Asn) c.6876G>C (p.Lys2292Asn) c.6846G>C (p.Lys2282Asn) c.6843G>C (p.Lys2281Asn) c.6795G>C (p.Lys2265Asn) c.6759G>C (p.Lys2253Asn) c.6756G>C (p.Lys2252Asn) c.6711G>C (p.Lys2237Asn) n.7376G>C | |
X | g.77520911C>T | CA517374433 | ATRX | c.7077G>A (p.Lys2359=) c.2175G>A (p.Lys725=) c.6963G>A (p.Lys2321=) c.*6705G>A (n.*6705G>A) n.5397G>A n.308G>A c.7074G>A (p.Lys2358=) c.6990G>A (p.Lys2330=) c.6960G>A (p.Lys2320=) c.6912G>A (p.Lys2304=) c.6873G>A (p.Lys2291=) c.6798G>A (p.Lys2266=) n.8669G>A c.6987G>A (p.Lys2329=) c.6957G>A (p.Lys2319=) c.6909G>A (p.Lys2303=) c.6876G>A (p.Lys2292=) c.6846G>A (p.Lys2282=) c.6843G>A (p.Lys2281=) c.6795G>A (p.Lys2265=) c.6759G>A (p.Lys2253=) c.6756G>A (p.Lys2252=) c.6711G>A (p.Lys2237=) n.7376G>A | |
X | g.77520912T>A | CA413707470 | ATRX | c.7076A>T (p.Lys2359Met) c.2174A>T (p.Lys725Met) c.6962A>T (p.Lys2321Met) c.*6704A>T (n.*6704A>T) n.5396A>T n.307A>T c.7073A>T (p.Lys2358Met) c.6989A>T (p.Lys2330Met) c.6959A>T (p.Lys2320Met) c.6911A>T (p.Lys2304Met) c.6872A>T (p.Lys2291Met) c.6797A>T (p.Lys2266Met) n.8668A>T c.6986A>T (p.Lys2329Met) c.6956A>T (p.Lys2319Met) c.6908A>T (p.Lys2303Met) c.6875A>T (p.Lys2292Met) c.6845A>T (p.Lys2282Met) c.6842A>T (p.Lys2281Met) c.6794A>T (p.Lys2265Met) c.6758A>T (p.Lys2253Met) c.6755A>T (p.Lys2252Met) c.6710A>T (p.Lys2237Met) n.7375A>T | COSMIC COSMIC |
X | g.77520912T>C | CA413707472 | ATRX | c.7076A>G (p.Lys2359Arg) c.2174A>G (p.Lys725Arg) c.6962A>G (p.Lys2321Arg) c.*6704A>G (n.*6704A>G) n.5396A>G n.307A>G c.7073A>G (p.Lys2358Arg) c.6989A>G (p.Lys2330Arg) c.6959A>G (p.Lys2320Arg) c.6911A>G (p.Lys2304Arg) c.6872A>G (p.Lys2291Arg) c.6797A>G (p.Lys2266Arg) n.8668A>G c.6986A>G (p.Lys2329Arg) c.6956A>G (p.Lys2319Arg) c.6908A>G (p.Lys2303Arg) c.6875A>G (p.Lys2292Arg) c.6845A>G (p.Lys2282Arg) c.6842A>G (p.Lys2281Arg) c.6794A>G (p.Lys2265Arg) c.6758A>G (p.Lys2253Arg) c.6755A>G (p.Lys2252Arg) c.6710A>G (p.Lys2237Arg) n.7375A>G | dbSNP |
X | g.77520912T>G | CA413707473 | ATRX | c.7076A>C (p.Lys2359Thr) c.2174A>C (p.Lys725Thr) c.6962A>C (p.Lys2321Thr) c.*6704A>C (n.*6704A>C) n.5396A>C n.307A>C c.7073A>C (p.Lys2358Thr) c.6989A>C (p.Lys2330Thr) c.6959A>C (p.Lys2320Thr) c.6911A>C (p.Lys2304Thr) c.6872A>C (p.Lys2291Thr) c.6797A>C (p.Lys2266Thr) n.8668A>C c.6986A>C (p.Lys2329Thr) c.6956A>C (p.Lys2319Thr) c.6908A>C (p.Lys2303Thr) c.6875A>C (p.Lys2292Thr) c.6845A>C (p.Lys2282Thr) c.6842A>C (p.Lys2281Thr) c.6794A>C (p.Lys2265Thr) c.6758A>C (p.Lys2253Thr) c.6755A>C (p.Lys2252Thr) c.6710A>C (p.Lys2237Thr) n.7375A>C | |
X | g.77520912T= | CA2438933079 | ATRX | c.7076A= (p.Lys2359=) c.2174A= (p.Lys725=) c.6962A= (p.Lys2321=) c.*6704A= (n.*6704A=) n.5396A= n.307A= c.7073A= (p.Lys2358=) c.6989A= (p.Lys2330=) c.6959A= (p.Lys2320=) c.6911A= (p.Lys2304=) c.6872A= (p.Lys2291=) c.6797A= (p.Lys2266=) n.8668A= c.6986A= (p.Lys2329=) c.6956A= (p.Lys2319=) c.6908A= (p.Lys2303=) c.6875A= (p.Lys2292=) c.6845A= (p.Lys2282=) c.6842A= (p.Lys2281=) c.6794A= (p.Lys2265=) c.6758A= (p.Lys2253=) c.6755A= (p.Lys2252=) c.6710A= (p.Lys2237=) n.7375A= | |
X | g.77520913T>A | CA413707480 | ATRX | c.7075A>T (p.Lys2359Ter) c.2173A>T (p.Lys725Ter) c.6961A>T (p.Lys2321Ter) c.*6703A>T (n.*6703A>T) n.5395A>T n.306A>T c.7072A>T (p.Lys2358Ter) c.6988A>T (p.Lys2330Ter) c.6958A>T (p.Lys2320Ter) c.6910A>T (p.Lys2304Ter) c.6871A>T (p.Lys2291Ter) c.6796A>T (p.Lys2266Ter) n.8667A>T c.6985A>T (p.Lys2329Ter) c.6955A>T (p.Lys2319Ter) c.6907A>T (p.Lys2303Ter) c.6874A>T (p.Lys2292Ter) c.6844A>T (p.Lys2282Ter) c.6841A>T (p.Lys2281Ter) c.6793A>T (p.Lys2265Ter) c.6757A>T (p.Lys2253Ter) c.6754A>T (p.Lys2252Ter) c.6709A>T (p.Lys2237Ter) n.7374A>T | |
X | g.77520913T>C | CA413707478 | ATRX | c.7075A>G (p.Lys2359Glu) c.2173A>G (p.Lys725Glu) c.6961A>G (p.Lys2321Glu) c.*6703A>G (n.*6703A>G) n.5395A>G n.306A>G c.7072A>G (p.Lys2358Glu) c.6988A>G (p.Lys2330Glu) c.6958A>G (p.Lys2320Glu) c.6910A>G (p.Lys2304Glu) c.6871A>G (p.Lys2291Glu) c.6796A>G (p.Lys2266Glu) n.8667A>G c.6985A>G (p.Lys2329Glu) c.6955A>G (p.Lys2319Glu) c.6907A>G (p.Lys2303Glu) c.6874A>G (p.Lys2292Glu) c.6844A>G (p.Lys2282Glu) c.6841A>G (p.Lys2281Glu) c.6793A>G (p.Lys2265Glu) c.6757A>G (p.Lys2253Glu) c.6754A>G (p.Lys2252Glu) c.6709A>G (p.Lys2237Glu) n.7374A>G | gnomAD v4 |
X | g.77520913T>G | CA413707476 | ATRX | c.7075A>C (p.Lys2359Gln) c.2173A>C (p.Lys725Gln) c.6961A>C (p.Lys2321Gln) c.*6703A>C (n.*6703A>C) n.5395A>C n.306A>C c.7072A>C (p.Lys2358Gln) c.6988A>C (p.Lys2330Gln) c.6958A>C (p.Lys2320Gln) c.6910A>C (p.Lys2304Gln) c.6871A>C (p.Lys2291Gln) c.6796A>C (p.Lys2266Gln) n.8667A>C c.6985A>C (p.Lys2329Gln) c.6955A>C (p.Lys2319Gln) c.6907A>C (p.Lys2303Gln) c.6874A>C (p.Lys2292Gln) c.6844A>C (p.Lys2282Gln) c.6841A>C (p.Lys2281Gln) c.6793A>C (p.Lys2265Gln) c.6757A>C (p.Lys2253Gln) c.6754A>C (p.Lys2252Gln) c.6709A>C (p.Lys2237Gln) n.7374A>C | |
X | g.77520914C>A | CA413707481 | ATRX | c.7074G>T (p.Trp2358Cys) c.2172G>T (p.Trp724Cys) c.6960G>T (p.Trp2320Cys) c.*6702G>T (n.*6702G>T) n.5394G>T n.305G>T c.7071G>T (p.Trp2357Cys) c.6987G>T (p.Trp2329Cys) c.6957G>T (p.Trp2319Cys) c.6909G>T (p.Trp2303Cys) c.6870G>T (p.Trp2290Cys) c.6795G>T (p.Trp2265Cys) n.8666G>T c.6984G>T (p.Trp2328Cys) c.6954G>T (p.Trp2318Cys) c.6906G>T (p.Trp2302Cys) c.6873G>T (p.Trp2291Cys) c.6843G>T (p.Trp2281Cys) c.6840G>T (p.Trp2280Cys) c.6792G>T (p.Trp2264Cys) c.6756G>T (p.Trp2252Cys) c.6753G>T (p.Trp2251Cys) c.6708G>T (p.Trp2236Cys) n.7373G>T | dbSNP |
X | g.77520914C>G | CA413707483 | ATRX | c.7074G>C (p.Trp2358Cys) c.2172G>C (p.Trp724Cys) c.6960G>C (p.Trp2320Cys) c.*6702G>C (n.*6702G>C) n.5394G>C n.305G>C c.7071G>C (p.Trp2357Cys) c.6987G>C (p.Trp2329Cys) c.6957G>C (p.Trp2319Cys) c.6909G>C (p.Trp2303Cys) c.6870G>C (p.Trp2290Cys) c.6795G>C (p.Trp2265Cys) n.8666G>C c.6984G>C (p.Trp2328Cys) c.6954G>C (p.Trp2318Cys) c.6906G>C (p.Trp2302Cys) c.6873G>C (p.Trp2291Cys) c.6843G>C (p.Trp2281Cys) c.6840G>C (p.Trp2280Cys) c.6792G>C (p.Trp2264Cys) c.6756G>C (p.Trp2252Cys) c.6753G>C (p.Trp2251Cys) c.6708G>C (p.Trp2236Cys) n.7373G>C | |
X | g.77520914C>T | CA413707484 | ATRX | c.7074G>A (p.Trp2358Ter) c.2172G>A (p.Trp724Ter) c.6960G>A (p.Trp2320Ter) c.*6702G>A (n.*6702G>A) n.5394G>A n.305G>A c.7071G>A (p.Trp2357Ter) c.6987G>A (p.Trp2329Ter) c.6957G>A (p.Trp2319Ter) c.6909G>A (p.Trp2303Ter) c.6870G>A (p.Trp2290Ter) c.6795G>A (p.Trp2265Ter) n.8666G>A c.6984G>A (p.Trp2328Ter) c.6954G>A (p.Trp2318Ter) c.6906G>A (p.Trp2302Ter) c.6873G>A (p.Trp2291Ter) c.6843G>A (p.Trp2281Ter) c.6840G>A (p.Trp2280Ter) c.6792G>A (p.Trp2264Ter) c.6756G>A (p.Trp2252Ter) c.6753G>A (p.Trp2251Ter) c.6708G>A (p.Trp2236Ter) n.7373G>A | |
X | g.77520915del | CA2579648667 | ATRX | c.7074del (p.Trp2358Ter) c.2172del (p.Trp724Ter) c.6960del (p.Trp2320Ter) c.*6702del (n.*6702del) n.5394del n.305del c.7071del (p.Trp2357Ter) c.6987del (p.Trp2329Ter) c.6957del (p.Trp2319Ter) c.6909del (p.Trp2303Ter) c.6870del (p.Trp2290Ter) c.6795del (p.Trp2265Ter) n.8666del c.6984del (p.Trp2328Ter) c.6954del (p.Trp2318Ter) c.6906del (p.Trp2302Ter) c.6873del (p.Trp2291Ter) c.6843del (p.Trp2281Ter) c.6840del (p.Trp2280Ter) c.6792del (p.Trp2264Ter) c.6756del (p.Trp2252Ter) c.6753del (p.Trp2251Ter) c.6708del (p.Trp2236Ter) n.7373del | |
X | g.77520915C>A | CA413707486 | ATRX | c.7073G>T (p.Trp2358Leu) c.2171G>T (p.Trp724Leu) c.6959G>T (p.Trp2320Leu) c.*6701G>T (n.*6701G>T) n.5393G>T n.304G>T c.7070G>T (p.Trp2357Leu) c.6986G>T (p.Trp2329Leu) c.6956G>T (p.Trp2319Leu) c.6908G>T (p.Trp2303Leu) c.6869G>T (p.Trp2290Leu) c.6794G>T (p.Trp2265Leu) n.8665G>T c.6983G>T (p.Trp2328Leu) c.6953G>T (p.Trp2318Leu) c.6905G>T (p.Trp2302Leu) c.6872G>T (p.Trp2291Leu) c.6842G>T (p.Trp2281Leu) c.6839G>T (p.Trp2280Leu) c.6791G>T (p.Trp2264Leu) c.6755G>T (p.Trp2252Leu) c.6752G>T (p.Trp2251Leu) c.6707G>T (p.Trp2236Leu) n.7372G>T | |
X | g.77520915C= | CA2438933080 | ATRX | c.7073G= (p.Trp2358=) c.2171G= (p.Trp724=) c.6959G= (p.Trp2320=) c.*6701G= (n.*6701G=) n.5393G= n.304G= c.7070G= (p.Trp2357=) c.6986G= (p.Trp2329=) c.6956G= (p.Trp2319=) c.6908G= (p.Trp2303=) c.6869G= (p.Trp2290=) c.6794G= (p.Trp2265=) n.8665G= c.6983G= (p.Trp2328=) c.6953G= (p.Trp2318=) c.6905G= (p.Trp2302=) c.6872G= (p.Trp2291=) c.6842G= (p.Trp2281=) c.6839G= (p.Trp2280=) c.6791G= (p.Trp2264=) c.6755G= (p.Trp2252=) c.6752G= (p.Trp2251=) c.6707G= (p.Trp2236=) n.7372G= | |
X | g.77520915C>G | CA413707488 | ATRX | c.7073G>C (p.Trp2358Ser) c.2171G>C (p.Trp724Ser) c.6959G>C (p.Trp2320Ser) c.*6701G>C (n.*6701G>C) n.5393G>C n.304G>C c.7070G>C (p.Trp2357Ser) c.6986G>C (p.Trp2329Ser) c.6956G>C (p.Trp2319Ser) c.6908G>C (p.Trp2303Ser) c.6869G>C (p.Trp2290Ser) c.6794G>C (p.Trp2265Ser) n.8665G>C c.6983G>C (p.Trp2328Ser) c.6953G>C (p.Trp2318Ser) c.6905G>C (p.Trp2302Ser) c.6872G>C (p.Trp2291Ser) c.6842G>C (p.Trp2281Ser) c.6839G>C (p.Trp2280Ser) c.6791G>C (p.Trp2264Ser) c.6755G>C (p.Trp2252Ser) c.6752G>C (p.Trp2251Ser) c.6707G>C (p.Trp2236Ser) n.7372G>C | dbSNP |
X | g.77520915C>T | CA413707489 | ATRX | c.7073G>A (p.Trp2358Ter) c.2171G>A (p.Trp724Ter) c.6959G>A (p.Trp2320Ter) c.*6701G>A (n.*6701G>A) n.5393G>A n.304G>A c.7070G>A (p.Trp2357Ter) c.6986G>A (p.Trp2329Ter) c.6956G>A (p.Trp2319Ter) c.6908G>A (p.Trp2303Ter) c.6869G>A (p.Trp2290Ter) c.6794G>A (p.Trp2265Ter) n.8665G>A c.6983G>A (p.Trp2328Ter) c.6953G>A (p.Trp2318Ter) c.6905G>A (p.Trp2302Ter) c.6872G>A (p.Trp2291Ter) c.6842G>A (p.Trp2281Ter) c.6839G>A (p.Trp2280Ter) c.6791G>A (p.Trp2264Ter) c.6755G>A (p.Trp2252Ter) c.6752G>A (p.Trp2251Ter) c.6707G>A (p.Trp2236Ter) n.7372G>A | |
X | g.77520916A>C | CA413707491 | ATRX | c.7072T>G (p.Trp2358Gly) c.2170T>G (p.Trp724Gly) c.6958T>G (p.Trp2320Gly) c.*6700T>G (n.*6700T>G) n.5392T>G n.303T>G c.7069T>G (p.Trp2357Gly) c.6985T>G (p.Trp2329Gly) c.6955T>G (p.Trp2319Gly) c.6907T>G (p.Trp2303Gly) c.6868T>G (p.Trp2290Gly) c.6793T>G (p.Trp2265Gly) n.8664T>G c.6982T>G (p.Trp2328Gly) c.6952T>G (p.Trp2318Gly) c.6904T>G (p.Trp2302Gly) c.6871T>G (p.Trp2291Gly) c.6841T>G (p.Trp2281Gly) c.6838T>G (p.Trp2280Gly) c.6790T>G (p.Trp2264Gly) c.6754T>G (p.Trp2252Gly) c.6751T>G (p.Trp2251Gly) c.6706T>G (p.Trp2236Gly) n.7371T>G | |
X | g.77520916A>G | CA413707493 | ATRX | c.7072T>C (p.Trp2358Arg) c.2170T>C (p.Trp724Arg) c.6958T>C (p.Trp2320Arg) c.*6700T>C (n.*6700T>C) n.5392T>C n.303T>C c.7069T>C (p.Trp2357Arg) c.6985T>C (p.Trp2329Arg) c.6955T>C (p.Trp2319Arg) c.6907T>C (p.Trp2303Arg) c.6868T>C (p.Trp2290Arg) c.6793T>C (p.Trp2265Arg) n.8664T>C c.6982T>C (p.Trp2328Arg) c.6952T>C (p.Trp2318Arg) c.6904T>C (p.Trp2302Arg) c.6871T>C (p.Trp2291Arg) c.6841T>C (p.Trp2281Arg) c.6838T>C (p.Trp2280Arg) c.6790T>C (p.Trp2264Arg) c.6754T>C (p.Trp2252Arg) c.6751T>C (p.Trp2251Arg) c.6706T>C (p.Trp2236Arg) n.7371T>C | |
X | g.77520916A>T | CA413707494 | ATRX | c.7072T>A (p.Trp2358Arg) c.2170T>A (p.Trp724Arg) c.6958T>A (p.Trp2320Arg) c.*6700T>A (n.*6700T>A) n.5392T>A n.303T>A c.7069T>A (p.Trp2357Arg) c.6985T>A (p.Trp2329Arg) c.6955T>A (p.Trp2319Arg) c.6907T>A (p.Trp2303Arg) c.6868T>A (p.Trp2290Arg) c.6793T>A (p.Trp2265Arg) n.8664T>A c.6982T>A (p.Trp2328Arg) c.6952T>A (p.Trp2318Arg) c.6904T>A (p.Trp2302Arg) c.6871T>A (p.Trp2291Arg) c.6841T>A (p.Trp2281Arg) c.6838T>A (p.Trp2280Arg) c.6790T>A (p.Trp2264Arg) c.6754T>A (p.Trp2252Arg) c.6751T>A (p.Trp2251Arg) c.6706T>A (p.Trp2236Arg) n.7371T>A | |
X | g.77520916_77520917insTACAG | CA2738722241 | ATRX | c.7072-1_7072insCTGTA (n.7072-1_7072insCTGTA) c.2170-1_2170insCTGTA (n.2170-1_2170insCTGTA) c.6958-1_6958insCTGTA (n.6958-1_6958insCTGTA) c.*6700-1_*6700insCTGTA (n.*6700-1_*6700insCTGTA) n.5391_5392insCTGTA n.303-1_303insCTGTA c.7069-1_7069insCTGTA (n.7069-1_7069insCTGTA) c.6985-1_6985insCTGTA (n.6985-1_6985insCTGTA) c.6955-1_6955insCTGTA (n.6955-1_6955insCTGTA) c.6907-1_6907insCTGTA (n.6907-1_6907insCTGTA) c.6868-1_6868insCTGTA (n.6868-1_6868insCTGTA) c.6793-1_6793insCTGTA (n.6793-1_6793insCTGTA) n.8663_8664insCTGTA c.6982-1_6982insCTGTA (n.6982-1_6982insCTGTA) c.6952-1_6952insCTGTA (n.6952-1_6952insCTGTA) c.6904-1_6904insCTGTA (n.6904-1_6904insCTGTA) c.6871-1_6871insCTGTA (n.6871-1_6871insCTGTA) c.6841-1_6841insCTGTA (n.6841-1_6841insCTGTA) c.6838-1_6838insCTGTA (n.6838-1_6838insCTGTA) c.6790-1_6790insCTGTA (n.6790-1_6790insCTGTA) c.6754-1_6754insCTGTA (n.6754-1_6754insCTGTA) c.6751-1_6751insCTGTA (n.6751-1_6751insCTGTA) c.6706-1_6706insCTGTA (n.6706-1_6706insCTGTA) n.7371-1_7371insCTGTA | dbSNP |
X | g.77520917C>A | CA413707496 | ATRX | c.7072-1G>T (n.7072-1G>T) c.2170-1G>T (n.2170-1G>T) c.6958-1G>T (n.6958-1G>T) c.*6700-1G>T (n.*6700-1G>T) n.5391G>T n.303-1G>T c.7069-1G>T (n.7069-1G>T) c.6985-1G>T (n.6985-1G>T) c.6955-1G>T (n.6955-1G>T) c.6907-1G>T (n.6907-1G>T) c.6868-1G>T (n.6868-1G>T) c.6793-1G>T (n.6793-1G>T) n.8663G>T c.6982-1G>T (n.6982-1G>T) c.6952-1G>T (n.6952-1G>T) c.6904-1G>T (n.6904-1G>T) c.6871-1G>T (n.6871-1G>T) c.6841-1G>T (n.6841-1G>T) c.6838-1G>T (n.6838-1G>T) c.6790-1G>T (n.6790-1G>T) c.6754-1G>T (n.6754-1G>T) c.6751-1G>T (n.6751-1G>T) c.6706-1G>T (n.6706-1G>T) n.7371-1G>T | COSMIC COSMIC |
X | g.77520917C>G | CA413707498 | ATRX | c.7072-1G>C (n.7072-1G>C) c.2170-1G>C (n.2170-1G>C) c.6958-1G>C (n.6958-1G>C) c.*6700-1G>C (n.*6700-1G>C) n.5391G>C n.303-1G>C c.7069-1G>C (n.7069-1G>C) c.6985-1G>C (n.6985-1G>C) c.6955-1G>C (n.6955-1G>C) c.6907-1G>C (n.6907-1G>C) c.6868-1G>C (n.6868-1G>C) c.6793-1G>C (n.6793-1G>C) n.8663G>C c.6982-1G>C (n.6982-1G>C) c.6952-1G>C (n.6952-1G>C) c.6904-1G>C (n.6904-1G>C) c.6871-1G>C (n.6871-1G>C) c.6841-1G>C (n.6841-1G>C) c.6838-1G>C (n.6838-1G>C) c.6790-1G>C (n.6790-1G>C) c.6754-1G>C (n.6754-1G>C) c.6751-1G>C (n.6751-1G>C) c.6706-1G>C (n.6706-1G>C) n.7371-1G>C | |
X | g.77520917C>T | CA413707499 | ATRX | c.7072-1G>A (n.7072-1G>A) c.2170-1G>A (n.2170-1G>A) c.6958-1G>A (n.6958-1G>A) c.*6700-1G>A (n.*6700-1G>A) n.5391G>A n.303-1G>A c.7069-1G>A (n.7069-1G>A) c.6985-1G>A (n.6985-1G>A) c.6955-1G>A (n.6955-1G>A) c.6907-1G>A (n.6907-1G>A) c.6868-1G>A (n.6868-1G>A) c.6793-1G>A (n.6793-1G>A) n.8663G>A c.6982-1G>A (n.6982-1G>A) c.6952-1G>A (n.6952-1G>A) c.6904-1G>A (n.6904-1G>A) c.6871-1G>A (n.6871-1G>A) c.6841-1G>A (n.6841-1G>A) c.6838-1G>A (n.6838-1G>A) c.6790-1G>A (n.6790-1G>A) c.6754-1G>A (n.6754-1G>A) c.6751-1G>A (n.6751-1G>A) c.6706-1G>A (n.6706-1G>A) n.7371-1G>A | |
X | g.77520918T>A | CA413707504 | ATRX | c.7072-2A>T (n.7072-2A>T) c.2170-2A>T (n.2170-2A>T) c.6958-2A>T (n.6958-2A>T) c.*6700-2A>T (n.*6700-2A>T) n.5390A>T n.303-2A>T c.7069-2A>T (n.7069-2A>T) c.6985-2A>T (n.6985-2A>T) c.6955-2A>T (n.6955-2A>T) c.6907-2A>T (n.6907-2A>T) c.6868-2A>T (n.6868-2A>T) c.6793-2A>T (n.6793-2A>T) n.8662A>T c.6982-2A>T (n.6982-2A>T) c.6952-2A>T (n.6952-2A>T) c.6904-2A>T (n.6904-2A>T) c.6871-2A>T (n.6871-2A>T) c.6841-2A>T (n.6841-2A>T) c.6838-2A>T (n.6838-2A>T) c.6790-2A>T (n.6790-2A>T) c.6754-2A>T (n.6754-2A>T) c.6751-2A>T (n.6751-2A>T) c.6706-2A>T (n.6706-2A>T) n.7371-2A>T | |
X | g.77520918T>C | CA413707505 | ATRX | c.7072-2A>G (n.7072-2A>G) c.2170-2A>G (n.2170-2A>G) c.6958-2A>G (n.6958-2A>G) c.*6700-2A>G (n.*6700-2A>G) n.5390A>G n.303-2A>G c.7069-2A>G (n.7069-2A>G) c.6985-2A>G (n.6985-2A>G) c.6955-2A>G (n.6955-2A>G) c.6907-2A>G (n.6907-2A>G) c.6868-2A>G (n.6868-2A>G) c.6793-2A>G (n.6793-2A>G) n.8662A>G c.6982-2A>G (n.6982-2A>G) c.6952-2A>G (n.6952-2A>G) c.6904-2A>G (n.6904-2A>G) c.6871-2A>G (n.6871-2A>G) c.6841-2A>G (n.6841-2A>G) c.6838-2A>G (n.6838-2A>G) c.6790-2A>G (n.6790-2A>G) c.6754-2A>G (n.6754-2A>G) c.6751-2A>G (n.6751-2A>G) c.6706-2A>G (n.6706-2A>G) n.7371-2A>G | gnomAD v4 |
X | g.77520918T>G | CA413707501 | ATRX | c.7072-2A>C (n.7072-2A>C) c.2170-2A>C (n.2170-2A>C) c.6958-2A>C (n.6958-2A>C) c.*6700-2A>C (n.*6700-2A>C) n.5390A>C n.303-2A>C c.7069-2A>C (n.7069-2A>C) c.6985-2A>C (n.6985-2A>C) c.6955-2A>C (n.6955-2A>C) c.6907-2A>C (n.6907-2A>C) c.6868-2A>C (n.6868-2A>C) c.6793-2A>C (n.6793-2A>C) n.8662A>C c.6982-2A>C (n.6982-2A>C) c.6952-2A>C (n.6952-2A>C) c.6904-2A>C (n.6904-2A>C) c.6871-2A>C (n.6871-2A>C) c.6841-2A>C (n.6841-2A>C) c.6838-2A>C (n.6838-2A>C) c.6790-2A>C (n.6790-2A>C) c.6754-2A>C (n.6754-2A>C) c.6751-2A>C (n.6751-2A>C) c.6706-2A>C (n.6706-2A>C) n.7371-2A>C | |
X | g.77520919A= | CA2438933081 | ATRX | c.7072-3T= (n.7072-3T=) c.2170-3T= (n.2170-3T=) c.6958-3T= (n.6958-3T=) c.*6700-3T= (n.*6700-3T=) n.5389T= n.303-3T= c.7069-3T= (n.7069-3T=) c.6985-3T= (n.6985-3T=) c.6955-3T= (n.6955-3T=) c.6907-3T= (n.6907-3T=) c.6868-3T= (n.6868-3T=) c.6793-3T= (n.6793-3T=) n.8661T= c.6982-3T= (n.6982-3T=) c.6952-3T= (n.6952-3T=) c.6904-3T= (n.6904-3T=) c.6871-3T= (n.6871-3T=) c.6841-3T= (n.6841-3T=) c.6838-3T= (n.6838-3T=) c.6790-3T= (n.6790-3T=) c.6754-3T= (n.6754-3T=) c.6751-3T= (n.6751-3T=) c.6706-3T= (n.6706-3T=) n.7371-3T= | |
X | g.77520919A>C | CA2573159521 | ATRX | c.7072-3T>G (n.7072-3T>G) c.2170-3T>G (n.2170-3T>G) c.6958-3T>G (n.6958-3T>G) c.*6700-3T>G (n.*6700-3T>G) n.5389T>G n.303-3T>G c.7069-3T>G (n.7069-3T>G) c.6985-3T>G (n.6985-3T>G) c.6955-3T>G (n.6955-3T>G) c.6907-3T>G (n.6907-3T>G) c.6868-3T>G (n.6868-3T>G) c.6793-3T>G (n.6793-3T>G) n.8661T>G c.6982-3T>G (n.6982-3T>G) c.6952-3T>G (n.6952-3T>G) c.6904-3T>G (n.6904-3T>G) c.6871-3T>G (n.6871-3T>G) c.6841-3T>G (n.6841-3T>G) c.6838-3T>G (n.6838-3T>G) c.6790-3T>G (n.6790-3T>G) c.6754-3T>G (n.6754-3T>G) c.6751-3T>G (n.6751-3T>G) c.6706-3T>G (n.6706-3T>G) n.7371-3T>G | ClinVar dbSNP |
X | g.77520919A>G | CA10457424 | ATRX | c.7072-3T>C (n.7072-3T>C) c.2170-3T>C (n.2170-3T>C) c.6958-3T>C (n.6958-3T>C) c.*6700-3T>C (n.*6700-3T>C) n.5389T>C n.303-3T>C c.7069-3T>C (n.7069-3T>C) c.6985-3T>C (n.6985-3T>C) c.6955-3T>C (n.6955-3T>C) c.6907-3T>C (n.6907-3T>C) c.6868-3T>C (n.6868-3T>C) c.6793-3T>C (n.6793-3T>C) n.8661T>C c.6982-3T>C (n.6982-3T>C) c.6952-3T>C (n.6952-3T>C) c.6904-3T>C (n.6904-3T>C) c.6871-3T>C (n.6871-3T>C) c.6841-3T>C (n.6841-3T>C) c.6838-3T>C (n.6838-3T>C) c.6790-3T>C (n.6790-3T>C) c.6754-3T>C (n.6754-3T>C) c.6751-3T>C (n.6751-3T>C) c.6706-3T>C (n.6706-3T>C) n.7371-3T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.77520919_77520922del | CA2738722287 | ATRX | c.7072-6_7072-3del (n.7072-6_7072-3del) c.2170-6_2170-3del (n.2170-6_2170-3del) c.6958-6_6958-3del (n.6958-6_6958-3del) c.*6700-6_*6700-3del (n.*6700-6_*6700-3del) n.5386_5389del n.303-6_303-3del c.7069-6_7069-3del (n.7069-6_7069-3del) c.6985-6_6985-3del (n.6985-6_6985-3del) c.6955-6_6955-3del (n.6955-6_6955-3del) c.6907-6_6907-3del (n.6907-6_6907-3del) c.6868-6_6868-3del (n.6868-6_6868-3del) c.6793-6_6793-3del (n.6793-6_6793-3del) n.8658_8661del c.6982-6_6982-3del (n.6982-6_6982-3del) c.6952-6_6952-3del (n.6952-6_6952-3del) c.6904-6_6904-3del (n.6904-6_6904-3del) c.6871-6_6871-3del (n.6871-6_6871-3del) c.6841-6_6841-3del (n.6841-6_6841-3del) c.6838-6_6838-3del (n.6838-6_6838-3del) c.6790-6_6790-3del (n.6790-6_6790-3del) c.6754-6_6754-3del (n.6754-6_6754-3del) c.6751-6_6751-3del (n.6751-6_6751-3del) c.6706-6_6706-3del (n.6706-6_6706-3del) n.7371-6_7371-3del | dbSNP |
X | g.77520922del | CA2579648668 | ATRX | c.7072-3del (n.7072-3del) c.2170-3del (n.2170-3del) c.6958-3del (n.6958-3del) c.*6700-3del (n.*6700-3del) n.5389del n.303-3del c.7069-3del (n.7069-3del) c.6985-3del (n.6985-3del) c.6955-3del (n.6955-3del) c.6907-3del (n.6907-3del) c.6868-3del (n.6868-3del) c.6793-3del (n.6793-3del) n.8661del c.6982-3del (n.6982-3del) c.6952-3del (n.6952-3del) c.6904-3del (n.6904-3del) c.6871-3del (n.6871-3del) c.6841-3del (n.6841-3del) c.6838-3del (n.6838-3del) c.6790-3del (n.6790-3del) c.6754-3del (n.6754-3del) c.6751-3del (n.6751-3del) c.6706-3del (n.6706-3del) n.7371-3del | |
X | g.77520920A= | CA2438933082 | ATRX | c.7072-4T= (n.7072-4T=) c.2170-4T= (n.2170-4T=) c.6958-4T= (n.6958-4T=) c.*6700-4T= (n.*6700-4T=) n.5388T= n.303-4T= c.7069-4T= (n.7069-4T=) c.6985-4T= (n.6985-4T=) c.6955-4T= (n.6955-4T=) c.6907-4T= (n.6907-4T=) c.6868-4T= (n.6868-4T=) c.6793-4T= (n.6793-4T=) n.8660T= c.6982-4T= (n.6982-4T=) c.6952-4T= (n.6952-4T=) c.6904-4T= (n.6904-4T=) c.6871-4T= (n.6871-4T=) c.6841-4T= (n.6841-4T=) c.6838-4T= (n.6838-4T=) c.6790-4T= (n.6790-4T=) c.6754-4T= (n.6754-4T=) c.6751-4T= (n.6751-4T=) c.6706-4T= (n.6706-4T=) n.7371-4T= | |
X | g.77520920A>C | CA645602247 | ATRX | c.7072-4T>G (n.7072-4T>G) c.2170-4T>G (n.2170-4T>G) c.6958-4T>G (n.6958-4T>G) c.*6700-4T>G (n.*6700-4T>G) n.5388T>G n.303-4T>G c.7069-4T>G (n.7069-4T>G) c.6985-4T>G (n.6985-4T>G) c.6955-4T>G (n.6955-4T>G) c.6907-4T>G (n.6907-4T>G) c.6868-4T>G (n.6868-4T>G) c.6793-4T>G (n.6793-4T>G) n.8660T>G c.6982-4T>G (n.6982-4T>G) c.6952-4T>G (n.6952-4T>G) c.6904-4T>G (n.6904-4T>G) c.6871-4T>G (n.6871-4T>G) c.6841-4T>G (n.6841-4T>G) c.6838-4T>G (n.6838-4T>G) c.6790-4T>G (n.6790-4T>G) c.6754-4T>G (n.6754-4T>G) c.6751-4T>G (n.6751-4T>G) c.6706-4T>G (n.6706-4T>G) n.7371-4T>G | ClinVar COSMIC COSMIC |
X | g.77520920A>G | CA10457425 | ATRX | c.7072-4T>C (n.7072-4T>C) c.2170-4T>C (n.2170-4T>C) c.6958-4T>C (n.6958-4T>C) c.*6700-4T>C (n.*6700-4T>C) n.5388T>C n.303-4T>C c.7069-4T>C (n.7069-4T>C) c.6985-4T>C (n.6985-4T>C) c.6955-4T>C (n.6955-4T>C) c.6907-4T>C (n.6907-4T>C) c.6868-4T>C (n.6868-4T>C) c.6793-4T>C (n.6793-4T>C) n.8660T>C c.6982-4T>C (n.6982-4T>C) c.6952-4T>C (n.6952-4T>C) c.6904-4T>C (n.6904-4T>C) c.6871-4T>C (n.6871-4T>C) c.6841-4T>C (n.6841-4T>C) c.6838-4T>C (n.6838-4T>C) c.6790-4T>C (n.6790-4T>C) c.6754-4T>C (n.6754-4T>C) c.6751-4T>C (n.6751-4T>C) c.6706-4T>C (n.6706-4T>C) n.7371-4T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.77520921A>T | CA2694139334 | ATRX | c.7072-5T>A (n.7072-5T>A) c.2170-5T>A (n.2170-5T>A) c.6958-5T>A (n.6958-5T>A) c.*6700-5T>A (n.*6700-5T>A) n.5387T>A n.303-5T>A c.7069-5T>A (n.7069-5T>A) c.6985-5T>A (n.6985-5T>A) c.6955-5T>A (n.6955-5T>A) c.6907-5T>A (n.6907-5T>A) c.6868-5T>A (n.6868-5T>A) c.6793-5T>A (n.6793-5T>A) n.8659T>A c.6982-5T>A (n.6982-5T>A) c.6952-5T>A (n.6952-5T>A) c.6904-5T>A (n.6904-5T>A) c.6871-5T>A (n.6871-5T>A) c.6841-5T>A (n.6841-5T>A) c.6838-5T>A (n.6838-5T>A) c.6790-5T>A (n.6790-5T>A) c.6754-5T>A (n.6754-5T>A) c.6751-5T>A (n.6751-5T>A) c.6706-5T>A (n.6706-5T>A) n.7371-5T>A | gnomAD v4 |
X | g.77520923G>C | CA2738533370 | ATRX | c.7072-7C>G (n.7072-7C>G) c.2170-7C>G (n.2170-7C>G) c.6958-7C>G (n.6958-7C>G) c.*6700-7C>G (n.*6700-7C>G) n.5385C>G n.303-7C>G c.7069-7C>G (n.7069-7C>G) c.6985-7C>G (n.6985-7C>G) c.6955-7C>G (n.6955-7C>G) c.6907-7C>G (n.6907-7C>G) c.6868-7C>G (n.6868-7C>G) c.6793-7C>G (n.6793-7C>G) n.8657C>G c.6982-7C>G (n.6982-7C>G) c.6952-7C>G (n.6952-7C>G) c.6904-7C>G (n.6904-7C>G) c.6871-7C>G (n.6871-7C>G) c.6841-7C>G (n.6841-7C>G) c.6838-7C>G (n.6838-7C>G) c.6790-7C>G (n.6790-7C>G) c.6754-7C>G (n.6754-7C>G) c.6751-7C>G (n.6751-7C>G) c.6706-7C>G (n.6706-7C>G) n.7371-7C>G | dbSNP |
X | g.77520923G= | CA2438933083 | ATRX | c.7072-7C= (n.7072-7C=) c.2170-7C= (n.2170-7C=) c.6958-7C= (n.6958-7C=) c.*6700-7C= (n.*6700-7C=) n.5385C= n.303-7C= c.7069-7C= (n.7069-7C=) c.6985-7C= (n.6985-7C=) c.6955-7C= (n.6955-7C=) c.6907-7C= (n.6907-7C=) c.6868-7C= (n.6868-7C=) c.6793-7C= (n.6793-7C=) n.8657C= c.6982-7C= (n.6982-7C=) c.6952-7C= (n.6952-7C=) c.6904-7C= (n.6904-7C=) c.6871-7C= (n.6871-7C=) c.6841-7C= (n.6841-7C=) c.6838-7C= (n.6838-7C=) c.6790-7C= (n.6790-7C=) c.6754-7C= (n.6754-7C=) c.6751-7C= (n.6751-7C=) c.6706-7C= (n.6706-7C=) n.7371-7C= | |
X | g.77520923G>T | CA10457426 | ATRX | c.7072-7C>A (n.7072-7C>A) c.2170-7C>A (n.2170-7C>A) c.6958-7C>A (n.6958-7C>A) c.*6700-7C>A (n.*6700-7C>A) n.5385C>A n.303-7C>A c.7069-7C>A (n.7069-7C>A) c.6985-7C>A (n.6985-7C>A) c.6955-7C>A (n.6955-7C>A) c.6907-7C>A (n.6907-7C>A) c.6868-7C>A (n.6868-7C>A) c.6793-7C>A (n.6793-7C>A) n.8657C>A c.6982-7C>A (n.6982-7C>A) c.6952-7C>A (n.6952-7C>A) c.6904-7C>A (n.6904-7C>A) c.6871-7C>A (n.6871-7C>A) c.6841-7C>A (n.6841-7C>A) c.6838-7C>A (n.6838-7C>A) c.6790-7C>A (n.6790-7C>A) c.6754-7C>A (n.6754-7C>A) c.6751-7C>A (n.6751-7C>A) c.6706-7C>A (n.6706-7C>A) n.7371-7C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.77520924A= | CA2438933084 | ATRX | c.7072-8T= (n.7072-8T=) c.2170-8T= (n.2170-8T=) c.6958-8T= (n.6958-8T=) c.*6700-8T= (n.*6700-8T=) n.5384T= n.303-8T= c.7069-8T= (n.7069-8T=) c.6985-8T= (n.6985-8T=) c.6955-8T= (n.6955-8T=) c.6907-8T= (n.6907-8T=) c.6868-8T= (n.6868-8T=) c.6793-8T= (n.6793-8T=) n.8656T= c.6982-8T= (n.6982-8T=) c.6952-8T= (n.6952-8T=) c.6904-8T= (n.6904-8T=) c.6871-8T= (n.6871-8T=) c.6841-8T= (n.6841-8T=) c.6838-8T= (n.6838-8T=) c.6790-8T= (n.6790-8T=) c.6754-8T= (n.6754-8T=) c.6751-8T= (n.6751-8T=) c.6706-8T= (n.6706-8T=) n.7371-8T= | |
X | g.77520924A>G | CA10457427 | ATRX | c.7072-8T>C (n.7072-8T>C) c.2170-8T>C (n.2170-8T>C) c.6958-8T>C (n.6958-8T>C) c.*6700-8T>C (n.*6700-8T>C) n.5384T>C n.303-8T>C c.7069-8T>C (n.7069-8T>C) c.6985-8T>C (n.6985-8T>C) c.6955-8T>C (n.6955-8T>C) c.6907-8T>C (n.6907-8T>C) c.6868-8T>C (n.6868-8T>C) c.6793-8T>C (n.6793-8T>C) n.8656T>C c.6982-8T>C (n.6982-8T>C) c.6952-8T>C (n.6952-8T>C) c.6904-8T>C (n.6904-8T>C) c.6871-8T>C (n.6871-8T>C) c.6841-8T>C (n.6841-8T>C) c.6838-8T>C (n.6838-8T>C) c.6790-8T>C (n.6790-8T>C) c.6754-8T>C (n.6754-8T>C) c.6751-8T>C (n.6751-8T>C) c.6706-8T>C (n.6706-8T>C) n.7371-8T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.77520928del | CA2548632231 | ATRX | c.7072-8del (n.7072-8del) c.2170-8del (n.2170-8del) c.6958-8del (n.6958-8del) c.*6700-8del (n.*6700-8del) n.5384del n.303-8del c.7069-8del (n.7069-8del) c.6985-8del (n.6985-8del) c.6955-8del (n.6955-8del) c.6907-8del (n.6907-8del) c.6868-8del (n.6868-8del) c.6793-8del (n.6793-8del) n.8656del c.6982-8del (n.6982-8del) c.6952-8del (n.6952-8del) c.6904-8del (n.6904-8del) c.6871-8del (n.6871-8del) c.6841-8del (n.6841-8del) c.6838-8del (n.6838-8del) c.6790-8del (n.6790-8del) c.6754-8del (n.6754-8del) c.6751-8del (n.6751-8del) c.6706-8del (n.6706-8del) n.7371-8del | |
X | g.77520925A>G | CA2580101393 | ATRX | c.7072-9T>C (n.7072-9T>C) c.2170-9T>C (n.2170-9T>C) c.6958-9T>C (n.6958-9T>C) c.*6700-9T>C (n.*6700-9T>C) n.5383T>C n.303-9T>C c.7069-9T>C (n.7069-9T>C) c.6985-9T>C (n.6985-9T>C) c.6955-9T>C (n.6955-9T>C) c.6907-9T>C (n.6907-9T>C) c.6868-9T>C (n.6868-9T>C) c.6793-9T>C (n.6793-9T>C) n.8655T>C c.6982-9T>C (n.6982-9T>C) c.6952-9T>C (n.6952-9T>C) c.6904-9T>C (n.6904-9T>C) c.6871-9T>C (n.6871-9T>C) c.6841-9T>C (n.6841-9T>C) c.6838-9T>C (n.6838-9T>C) c.6790-9T>C (n.6790-9T>C) c.6754-9T>C (n.6754-9T>C) c.6751-9T>C (n.6751-9T>C) c.6706-9T>C (n.6706-9T>C) n.7371-9T>C | ClinVar |