WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| 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 |