Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.77508469A>C | CA413704139 | ATRX | c.7361T>G (p.Ile2454Ser) c.2459T>G (p.Ile820Ser) c.7247T>G (p.Ile2416Ser) c.*6989T>G (n.*6989T>G) n.5681T>G c.7358T>G (p.Ile2453Ser) c.7274T>G (p.Ile2425Ser) c.7244T>G (p.Ile2415Ser) c.7196T>G (p.Ile2399Ser) c.7157T>G (p.Ile2386Ser) c.7082T>G (p.Ile2361Ser) n.8953T>G c.7271T>G (p.Ile2424Ser) c.7241T>G (p.Ile2414Ser) c.7193T>G (p.Ile2398Ser) c.7160T>G (p.Ile2387Ser) c.7130T>G (p.Ile2377Ser) c.7127T>G (p.Ile2376Ser) c.7079T>G (p.Ile2360Ser) c.7043T>G (p.Ile2348Ser) c.7040T>G (p.Ile2347Ser) c.6995T>G (p.Ile2332Ser) n.7660T>G | |
X | g.77508469A>G | CA413704140 | ATRX | c.7361T>C (p.Ile2454Thr) c.2459T>C (p.Ile820Thr) c.7247T>C (p.Ile2416Thr) c.*6989T>C (n.*6989T>C) n.5681T>C c.7358T>C (p.Ile2453Thr) c.7274T>C (p.Ile2425Thr) c.7244T>C (p.Ile2415Thr) c.7196T>C (p.Ile2399Thr) c.7157T>C (p.Ile2386Thr) c.7082T>C (p.Ile2361Thr) n.8953T>C c.7271T>C (p.Ile2424Thr) c.7241T>C (p.Ile2414Thr) c.7193T>C (p.Ile2398Thr) c.7160T>C (p.Ile2387Thr) c.7130T>C (p.Ile2377Thr) c.7127T>C (p.Ile2376Thr) c.7079T>C (p.Ile2360Thr) c.7043T>C (p.Ile2348Thr) c.7040T>C (p.Ile2347Thr) c.6995T>C (p.Ile2332Thr) n.7660T>C | |
X | g.77508469A>T | CA413704142 | ATRX | c.7361T>A (p.Ile2454Asn) c.2459T>A (p.Ile820Asn) c.7247T>A (p.Ile2416Asn) c.*6989T>A (n.*6989T>A) n.5681T>A c.7358T>A (p.Ile2453Asn) c.7274T>A (p.Ile2425Asn) c.7244T>A (p.Ile2415Asn) c.7196T>A (p.Ile2399Asn) c.7157T>A (p.Ile2386Asn) c.7082T>A (p.Ile2361Asn) n.8953T>A c.7271T>A (p.Ile2424Asn) c.7241T>A (p.Ile2414Asn) c.7193T>A (p.Ile2398Asn) c.7160T>A (p.Ile2387Asn) c.7130T>A (p.Ile2377Asn) c.7127T>A (p.Ile2376Asn) c.7079T>A (p.Ile2360Asn) c.7043T>A (p.Ile2348Asn) c.7040T>A (p.Ile2347Asn) c.6995T>A (p.Ile2332Asn) n.7660T>A | |
X | g.77508470T>A | CA413704145 | ATRX | c.7360A>T (p.Ile2454Phe) c.2458A>T (p.Ile820Phe) c.7246A>T (p.Ile2416Phe) c.*6988A>T (n.*6988A>T) n.5680A>T c.7357A>T (p.Ile2453Phe) c.7273A>T (p.Ile2425Phe) c.7243A>T (p.Ile2415Phe) c.7195A>T (p.Ile2399Phe) c.7156A>T (p.Ile2386Phe) c.7081A>T (p.Ile2361Phe) n.8952A>T c.7270A>T (p.Ile2424Phe) c.7240A>T (p.Ile2414Phe) c.7192A>T (p.Ile2398Phe) c.7159A>T (p.Ile2387Phe) c.7129A>T (p.Ile2377Phe) c.7126A>T (p.Ile2376Phe) c.7078A>T (p.Ile2360Phe) c.7042A>T (p.Ile2348Phe) c.7039A>T (p.Ile2347Phe) c.6994A>T (p.Ile2332Phe) n.7659A>T | |
X | g.77508470T>C | CA413704147 | ATRX | c.7360A>G (p.Ile2454Val) c.2458A>G (p.Ile820Val) c.7246A>G (p.Ile2416Val) c.*6988A>G (n.*6988A>G) n.5680A>G c.7357A>G (p.Ile2453Val) c.7273A>G (p.Ile2425Val) c.7243A>G (p.Ile2415Val) c.7195A>G (p.Ile2399Val) c.7156A>G (p.Ile2386Val) c.7081A>G (p.Ile2361Val) n.8952A>G c.7270A>G (p.Ile2424Val) c.7240A>G (p.Ile2414Val) c.7192A>G (p.Ile2398Val) c.7159A>G (p.Ile2387Val) c.7129A>G (p.Ile2377Val) c.7126A>G (p.Ile2376Val) c.7078A>G (p.Ile2360Val) c.7042A>G (p.Ile2348Val) c.7039A>G (p.Ile2347Val) c.6994A>G (p.Ile2332Val) n.7659A>G | gnomAD v4 |
X | g.77508470T>G | CA413704149 | ATRX | c.7360A>C (p.Ile2454Leu) c.2458A>C (p.Ile820Leu) c.7246A>C (p.Ile2416Leu) c.*6988A>C (n.*6988A>C) n.5680A>C c.7357A>C (p.Ile2453Leu) c.7273A>C (p.Ile2425Leu) c.7243A>C (p.Ile2415Leu) c.7195A>C (p.Ile2399Leu) c.7156A>C (p.Ile2386Leu) c.7081A>C (p.Ile2361Leu) n.8952A>C c.7270A>C (p.Ile2424Leu) c.7240A>C (p.Ile2414Leu) c.7192A>C (p.Ile2398Leu) c.7159A>C (p.Ile2387Leu) c.7129A>C (p.Ile2377Leu) c.7126A>C (p.Ile2376Leu) c.7078A>C (p.Ile2360Leu) c.7042A>C (p.Ile2348Leu) c.7039A>C (p.Ile2347Leu) c.6994A>C (p.Ile2332Leu) n.7659A>C | |
X | g.77508471C>A | CA413704152 | ATRX | c.7359G>T (p.Gln2453His) c.2457G>T (p.Gln819His) c.7245G>T (p.Gln2415His) c.*6987G>T (n.*6987G>T) n.5679G>T c.7356G>T (p.Gln2452His) c.7272G>T (p.Gln2424His) c.7242G>T (p.Gln2414His) c.7194G>T (p.Gln2398His) c.7155G>T (p.Gln2385His) c.7080G>T (p.Gln2360His) n.8951G>T c.7269G>T (p.Gln2423His) c.7239G>T (p.Gln2413His) c.7191G>T (p.Gln2397His) c.7158G>T (p.Gln2386His) c.7128G>T (p.Gln2376His) c.7125G>T (p.Gln2375His) c.7077G>T (p.Gln2359His) c.7041G>T (p.Gln2347His) c.7038G>T (p.Gln2346His) c.6993G>T (p.Gln2331His) n.7658G>T | dbSNP |
X | g.77508471C= | CA2438929049 | ATRX | c.7359G= (p.Gln2453=) c.2457G= (p.Gln819=) c.7245G= (p.Gln2415=) c.*6987G= (n.*6987G=) n.5679G= c.7356G= (p.Gln2452=) c.7272G= (p.Gln2424=) c.7242G= (p.Gln2414=) c.7194G= (p.Gln2398=) c.7155G= (p.Gln2385=) c.7080G= (p.Gln2360=) n.8951G= c.7269G= (p.Gln2423=) c.7239G= (p.Gln2413=) c.7191G= (p.Gln2397=) c.7158G= (p.Gln2386=) c.7128G= (p.Gln2376=) c.7125G= (p.Gln2375=) c.7077G= (p.Gln2359=) c.7041G= (p.Gln2347=) c.7038G= (p.Gln2346=) c.6993G= (p.Gln2331=) n.7658G= | |
X | g.77508471C>G | CA413704154 | ATRX | c.7359G>C (p.Gln2453His) c.2457G>C (p.Gln819His) c.7245G>C (p.Gln2415His) c.*6987G>C (n.*6987G>C) n.5679G>C c.7356G>C (p.Gln2452His) c.7272G>C (p.Gln2424His) c.7242G>C (p.Gln2414His) c.7194G>C (p.Gln2398His) c.7155G>C (p.Gln2385His) c.7080G>C (p.Gln2360His) n.8951G>C c.7269G>C (p.Gln2423His) c.7239G>C (p.Gln2413His) c.7191G>C (p.Gln2397His) c.7158G>C (p.Gln2386His) c.7128G>C (p.Gln2376His) c.7125G>C (p.Gln2375His) c.7077G>C (p.Gln2359His) c.7041G>C (p.Gln2347His) c.7038G>C (p.Gln2346His) c.6993G>C (p.Gln2331His) n.7658G>C | dbSNP |
X | g.77508471C>T | CA517374083 | ATRX | c.7359G>A (p.Gln2453=) c.2457G>A (p.Gln819=) c.7245G>A (p.Gln2415=) c.*6987G>A (n.*6987G>A) n.5679G>A c.7356G>A (p.Gln2452=) c.7272G>A (p.Gln2424=) c.7242G>A (p.Gln2414=) c.7194G>A (p.Gln2398=) c.7155G>A (p.Gln2385=) c.7080G>A (p.Gln2360=) n.8951G>A c.7269G>A (p.Gln2423=) c.7239G>A (p.Gln2413=) c.7191G>A (p.Gln2397=) c.7158G>A (p.Gln2386=) c.7128G>A (p.Gln2376=) c.7125G>A (p.Gln2375=) c.7077G>A (p.Gln2359=) c.7041G>A (p.Gln2347=) c.7038G>A (p.Gln2346=) c.6993G>A (p.Gln2331=) n.7658G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.77508472T>A | CA413704157 | ATRX | c.7358A>T (p.Gln2453Leu) c.2456A>T (p.Gln819Leu) c.7244A>T (p.Gln2415Leu) c.*6986A>T (n.*6986A>T) n.5678A>T c.7355A>T (p.Gln2452Leu) c.7271A>T (p.Gln2424Leu) c.7241A>T (p.Gln2414Leu) c.7193A>T (p.Gln2398Leu) c.7154A>T (p.Gln2385Leu) c.7079A>T (p.Gln2360Leu) n.8950A>T c.7268A>T (p.Gln2423Leu) c.7238A>T (p.Gln2413Leu) c.7190A>T (p.Gln2397Leu) c.7157A>T (p.Gln2386Leu) c.7127A>T (p.Gln2376Leu) c.7124A>T (p.Gln2375Leu) c.7076A>T (p.Gln2359Leu) c.7040A>T (p.Gln2347Leu) c.7037A>T (p.Gln2346Leu) c.6992A>T (p.Gln2331Leu) n.7657A>T | |
X | g.77508472T>C | CA413704161 | ATRX | c.7358A>G (p.Gln2453Arg) c.2456A>G (p.Gln819Arg) c.7244A>G (p.Gln2415Arg) c.*6986A>G (n.*6986A>G) n.5678A>G c.7355A>G (p.Gln2452Arg) c.7271A>G (p.Gln2424Arg) c.7241A>G (p.Gln2414Arg) c.7193A>G (p.Gln2398Arg) c.7154A>G (p.Gln2385Arg) c.7079A>G (p.Gln2360Arg) n.8950A>G c.7268A>G (p.Gln2423Arg) c.7238A>G (p.Gln2413Arg) c.7190A>G (p.Gln2397Arg) c.7157A>G (p.Gln2386Arg) c.7127A>G (p.Gln2376Arg) c.7124A>G (p.Gln2375Arg) c.7076A>G (p.Gln2359Arg) c.7040A>G (p.Gln2347Arg) c.7037A>G (p.Gln2346Arg) c.6992A>G (p.Gln2331Arg) n.7657A>G | |
X | g.77508472T>G | CA413704162 | ATRX | c.7358A>C (p.Gln2453Pro) c.2456A>C (p.Gln819Pro) c.7244A>C (p.Gln2415Pro) c.*6986A>C (n.*6986A>C) n.5678A>C c.7355A>C (p.Gln2452Pro) c.7271A>C (p.Gln2424Pro) c.7241A>C (p.Gln2414Pro) c.7193A>C (p.Gln2398Pro) c.7154A>C (p.Gln2385Pro) c.7079A>C (p.Gln2360Pro) n.8950A>C c.7268A>C (p.Gln2423Pro) c.7238A>C (p.Gln2413Pro) c.7190A>C (p.Gln2397Pro) c.7157A>C (p.Gln2386Pro) c.7127A>C (p.Gln2376Pro) c.7124A>C (p.Gln2375Pro) c.7076A>C (p.Gln2359Pro) c.7040A>C (p.Gln2347Pro) c.7037A>C (p.Gln2346Pro) c.6992A>C (p.Gln2331Pro) n.7657A>C | |
X | g.77508473G>A | CA413704164 | ATRX | c.7357C>T (p.Gln2453Ter) c.2455C>T (p.Gln819Ter) c.7243C>T (p.Gln2415Ter) c.*6985C>T (n.*6985C>T) n.5677C>T c.7354C>T (p.Gln2452Ter) c.7270C>T (p.Gln2424Ter) c.7240C>T (p.Gln2414Ter) c.7192C>T (p.Gln2398Ter) c.7153C>T (p.Gln2385Ter) c.7078C>T (p.Gln2360Ter) n.8949C>T c.7267C>T (p.Gln2423Ter) c.7237C>T (p.Gln2413Ter) c.7189C>T (p.Gln2397Ter) c.7156C>T (p.Gln2386Ter) c.7126C>T (p.Gln2376Ter) c.7123C>T (p.Gln2375Ter) c.7075C>T (p.Gln2359Ter) c.7039C>T (p.Gln2347Ter) c.7036C>T (p.Gln2346Ter) c.6991C>T (p.Gln2331Ter) n.7656C>T | dbSNP |
X | g.77508473G>C | CA413704168 | ATRX | c.7357C>G (p.Gln2453Glu) c.2455C>G (p.Gln819Glu) c.7243C>G (p.Gln2415Glu) c.*6985C>G (n.*6985C>G) n.5677C>G c.7354C>G (p.Gln2452Glu) c.7270C>G (p.Gln2424Glu) c.7240C>G (p.Gln2414Glu) c.7192C>G (p.Gln2398Glu) c.7153C>G (p.Gln2385Glu) c.7078C>G (p.Gln2360Glu) n.8949C>G c.7267C>G (p.Gln2423Glu) c.7237C>G (p.Gln2413Glu) c.7189C>G (p.Gln2397Glu) c.7156C>G (p.Gln2386Glu) c.7126C>G (p.Gln2376Glu) c.7123C>G (p.Gln2375Glu) c.7075C>G (p.Gln2359Glu) c.7039C>G (p.Gln2347Glu) c.7036C>G (p.Gln2346Glu) c.6991C>G (p.Gln2331Glu) n.7656C>G | dbSNP |
X | g.77508473G>T | CA413704163 | ATRX | c.7357C>A (p.Gln2453Lys) c.2455C>A (p.Gln819Lys) c.7243C>A (p.Gln2415Lys) c.*6985C>A (n.*6985C>A) n.5677C>A c.7354C>A (p.Gln2452Lys) c.7270C>A (p.Gln2424Lys) c.7240C>A (p.Gln2414Lys) c.7192C>A (p.Gln2398Lys) c.7153C>A (p.Gln2385Lys) c.7078C>A (p.Gln2360Lys) n.8949C>A c.7267C>A (p.Gln2423Lys) c.7237C>A (p.Gln2413Lys) c.7189C>A (p.Gln2397Lys) c.7156C>A (p.Gln2386Lys) c.7126C>A (p.Gln2376Lys) c.7123C>A (p.Gln2375Lys) c.7075C>A (p.Gln2359Lys) c.7039C>A (p.Gln2347Lys) c.7036C>A (p.Gln2346Lys) c.6991C>A (p.Gln2331Lys) n.7656C>A | |
X | g.77508474C>A | CA413704171 | ATRX | c.7356G>T (p.Gln2452His) c.2454G>T (p.Gln818His) c.7242G>T (p.Gln2414His) c.*6984G>T (n.*6984G>T) n.5676G>T c.7353G>T (p.Gln2451His) c.7269G>T (p.Gln2423His) c.7239G>T (p.Gln2413His) c.7191G>T (p.Gln2397His) c.7152G>T (p.Gln2384His) c.7077G>T (p.Gln2359His) n.8948G>T c.7266G>T (p.Gln2422His) c.7236G>T (p.Gln2412His) c.7188G>T (p.Gln2396His) c.7155G>T (p.Gln2385His) c.7125G>T (p.Gln2375His) c.7122G>T (p.Gln2374His) c.7074G>T (p.Gln2358His) c.7038G>T (p.Gln2346His) c.7035G>T (p.Gln2345His) c.6990G>T (p.Gln2330His) n.7655G>T | dbSNP |
X | g.77508474C>G | CA413704172 | ATRX | c.7356G>C (p.Gln2452His) c.2454G>C (p.Gln818His) c.7242G>C (p.Gln2414His) c.*6984G>C (n.*6984G>C) n.5676G>C c.7353G>C (p.Gln2451His) c.7269G>C (p.Gln2423His) c.7239G>C (p.Gln2413His) c.7191G>C (p.Gln2397His) c.7152G>C (p.Gln2384His) c.7077G>C (p.Gln2359His) n.8948G>C c.7266G>C (p.Gln2422His) c.7236G>C (p.Gln2412His) c.7188G>C (p.Gln2396His) c.7155G>C (p.Gln2385His) c.7125G>C (p.Gln2375His) c.7122G>C (p.Gln2374His) c.7074G>C (p.Gln2358His) c.7038G>C (p.Gln2346His) c.7035G>C (p.Gln2345His) c.6990G>C (p.Gln2330His) n.7655G>C | dbSNP |
X | g.77508474C>T | CA517374085 | ATRX | c.7356G>A (p.Gln2452=) c.2454G>A (p.Gln818=) c.7242G>A (p.Gln2414=) c.*6984G>A (n.*6984G>A) n.5676G>A c.7353G>A (p.Gln2451=) c.7269G>A (p.Gln2423=) c.7239G>A (p.Gln2413=) c.7191G>A (p.Gln2397=) c.7152G>A (p.Gln2384=) c.7077G>A (p.Gln2359=) n.8948G>A c.7266G>A (p.Gln2422=) c.7236G>A (p.Gln2412=) c.7188G>A (p.Gln2396=) c.7155G>A (p.Gln2385=) c.7125G>A (p.Gln2375=) c.7122G>A (p.Gln2374=) c.7074G>A (p.Gln2358=) c.7038G>A (p.Gln2346=) c.7035G>A (p.Gln2345=) c.6990G>A (p.Gln2330=) n.7655G>A | ClinVar dbSNP |
X | g.77508475T>A | CA413704173 | ATRX | c.7355A>T (p.Gln2452Leu) c.2453A>T (p.Gln818Leu) c.7241A>T (p.Gln2414Leu) c.*6983A>T (n.*6983A>T) n.5675A>T c.7352A>T (p.Gln2451Leu) c.7268A>T (p.Gln2423Leu) c.7238A>T (p.Gln2413Leu) c.7190A>T (p.Gln2397Leu) c.7151A>T (p.Gln2384Leu) c.7076A>T (p.Gln2359Leu) n.8947A>T c.7265A>T (p.Gln2422Leu) c.7235A>T (p.Gln2412Leu) c.7187A>T (p.Gln2396Leu) c.7154A>T (p.Gln2385Leu) c.7124A>T (p.Gln2375Leu) c.7121A>T (p.Gln2374Leu) c.7073A>T (p.Gln2358Leu) c.7037A>T (p.Gln2346Leu) c.7034A>T (p.Gln2345Leu) c.6989A>T (p.Gln2330Leu) n.7654A>T | |
X | g.77508475T>C | CA413704175 | ATRX | c.7355A>G (p.Gln2452Arg) c.2453A>G (p.Gln818Arg) c.7241A>G (p.Gln2414Arg) c.*6983A>G (n.*6983A>G) n.5675A>G c.7352A>G (p.Gln2451Arg) c.7268A>G (p.Gln2423Arg) c.7238A>G (p.Gln2413Arg) c.7190A>G (p.Gln2397Arg) c.7151A>G (p.Gln2384Arg) c.7076A>G (p.Gln2359Arg) n.8947A>G c.7265A>G (p.Gln2422Arg) c.7235A>G (p.Gln2412Arg) c.7187A>G (p.Gln2396Arg) c.7154A>G (p.Gln2385Arg) c.7124A>G (p.Gln2375Arg) c.7121A>G (p.Gln2374Arg) c.7073A>G (p.Gln2358Arg) c.7037A>G (p.Gln2346Arg) c.7034A>G (p.Gln2345Arg) c.6989A>G (p.Gln2330Arg) n.7654A>G | |
X | g.77508475T>G | CA413704184 | ATRX | c.7355A>C (p.Gln2452Pro) c.2453A>C (p.Gln818Pro) c.7241A>C (p.Gln2414Pro) c.*6983A>C (n.*6983A>C) n.5675A>C c.7352A>C (p.Gln2451Pro) c.7268A>C (p.Gln2423Pro) c.7238A>C (p.Gln2413Pro) c.7190A>C (p.Gln2397Pro) c.7151A>C (p.Gln2384Pro) c.7076A>C (p.Gln2359Pro) n.8947A>C c.7265A>C (p.Gln2422Pro) c.7235A>C (p.Gln2412Pro) c.7187A>C (p.Gln2396Pro) c.7154A>C (p.Gln2385Pro) c.7124A>C (p.Gln2375Pro) c.7121A>C (p.Gln2374Pro) c.7073A>C (p.Gln2358Pro) c.7037A>C (p.Gln2346Pro) c.7034A>C (p.Gln2345Pro) c.6989A>C (p.Gln2330Pro) n.7654A>C | |
X | g.77508476G>A | CA413704193 | ATRX | c.7354C>T (p.Gln2452Ter) c.2452C>T (p.Gln818Ter) c.7240C>T (p.Gln2414Ter) c.*6982C>T (n.*6982C>T) n.5674C>T c.7351C>T (p.Gln2451Ter) c.7267C>T (p.Gln2423Ter) c.7237C>T (p.Gln2413Ter) c.7189C>T (p.Gln2397Ter) c.7150C>T (p.Gln2384Ter) c.7075C>T (p.Gln2359Ter) n.8946C>T c.7264C>T (p.Gln2422Ter) c.7234C>T (p.Gln2412Ter) c.7186C>T (p.Gln2396Ter) c.7153C>T (p.Gln2385Ter) c.7123C>T (p.Gln2375Ter) c.7120C>T (p.Gln2374Ter) c.7072C>T (p.Gln2358Ter) c.7036C>T (p.Gln2346Ter) c.7033C>T (p.Gln2345Ter) c.6988C>T (p.Gln2330Ter) n.7653C>T | |
X | g.77508476G>C | CA413704188 | ATRX | c.7354C>G (p.Gln2452Glu) c.2452C>G (p.Gln818Glu) c.7240C>G (p.Gln2414Glu) c.*6982C>G (n.*6982C>G) n.5674C>G c.7351C>G (p.Gln2451Glu) c.7267C>G (p.Gln2423Glu) c.7237C>G (p.Gln2413Glu) c.7189C>G (p.Gln2397Glu) c.7150C>G (p.Gln2384Glu) c.7075C>G (p.Gln2359Glu) n.8946C>G c.7264C>G (p.Gln2422Glu) c.7234C>G (p.Gln2412Glu) c.7186C>G (p.Gln2396Glu) c.7153C>G (p.Gln2385Glu) c.7123C>G (p.Gln2375Glu) c.7120C>G (p.Gln2374Glu) c.7072C>G (p.Gln2358Glu) c.7036C>G (p.Gln2346Glu) c.7033C>G (p.Gln2345Glu) c.6988C>G (p.Gln2330Glu) n.7653C>G | dbSNP |
X | g.77508476G>T | CA413704190 | ATRX | c.7354C>A (p.Gln2452Lys) c.2452C>A (p.Gln818Lys) c.7240C>A (p.Gln2414Lys) c.*6982C>A (n.*6982C>A) n.5674C>A c.7351C>A (p.Gln2451Lys) c.7267C>A (p.Gln2423Lys) c.7237C>A (p.Gln2413Lys) c.7189C>A (p.Gln2397Lys) c.7150C>A (p.Gln2384Lys) c.7075C>A (p.Gln2359Lys) n.8946C>A c.7264C>A (p.Gln2422Lys) c.7234C>A (p.Gln2412Lys) c.7186C>A (p.Gln2396Lys) c.7153C>A (p.Gln2385Lys) c.7123C>A (p.Gln2375Lys) c.7120C>A (p.Gln2374Lys) c.7072C>A (p.Gln2358Lys) c.7036C>A (p.Gln2346Lys) c.7033C>A (p.Gln2345Lys) c.6988C>A (p.Gln2330Lys) n.7653C>A | dbSNP |
X | g.77508477del | CA2738724212 | ATRX | c.7354del (p.Gln2452SerfsTer5) c.2452del (p.Gln818SerfsTer5) c.7240del (p.Gln2414SerfsTer5) c.*6982del (n.*6982del) n.5674del c.7351del (p.Gln2451SerfsTer5) c.7267del (p.Gln2423SerfsTer5) c.7237del (p.Gln2413SerfsTer5) c.7189del (p.Gln2397SerfsTer5) c.7150del (p.Gln2384SerfsTer5) c.7075del (p.Gln2359SerfsTer5) n.8946del c.7264del (p.Gln2422SerfsTer5) c.7234del (p.Gln2412SerfsTer5) c.7186del (p.Gln2396SerfsTer5) c.7153del (p.Gln2385SerfsTer5) c.7123del (p.Gln2375SerfsTer5) c.7120del (p.Gln2374SerfsTer5) c.7072del (p.Gln2358SerfsTer5) c.7036del (p.Gln2346SerfsTer5) c.7033del (p.Gln2345SerfsTer5) c.6988del (p.Gln2330SerfsTer5) n.7653del | dbSNP |
X | g.77508477G>A | CA517374087 | ATRX | c.7353C>T (p.Tyr2451=) c.2451C>T (p.Tyr817=) c.7239C>T (p.Tyr2413=) c.*6981C>T (n.*6981C>T) n.5673C>T c.7350C>T (p.Tyr2450=) c.7266C>T (p.Tyr2422=) c.7236C>T (p.Tyr2412=) c.7188C>T (p.Tyr2396=) c.7149C>T (p.Tyr2383=) c.7074C>T (p.Tyr2358=) n.8945C>T c.7263C>T (p.Tyr2421=) c.7233C>T (p.Tyr2411=) c.7185C>T (p.Tyr2395=) c.7152C>T (p.Tyr2384=) c.7122C>T (p.Tyr2374=) c.7119C>T (p.Tyr2373=) c.7071C>T (p.Tyr2357=) c.7035C>T (p.Tyr2345=) c.7032C>T (p.Tyr2344=) c.6987C>T (p.Tyr2329=) n.7652C>T | |
X | g.77508477G>C | CA413704196 | ATRX | c.7353C>G (p.Tyr2451Ter) c.2451C>G (p.Tyr817Ter) c.7239C>G (p.Tyr2413Ter) c.*6981C>G (n.*6981C>G) n.5673C>G c.7350C>G (p.Tyr2450Ter) c.7266C>G (p.Tyr2422Ter) c.7236C>G (p.Tyr2412Ter) c.7188C>G (p.Tyr2396Ter) c.7149C>G (p.Tyr2383Ter) c.7074C>G (p.Tyr2358Ter) n.8945C>G c.7263C>G (p.Tyr2421Ter) c.7233C>G (p.Tyr2411Ter) c.7185C>G (p.Tyr2395Ter) c.7152C>G (p.Tyr2384Ter) c.7122C>G (p.Tyr2374Ter) c.7119C>G (p.Tyr2373Ter) c.7071C>G (p.Tyr2357Ter) c.7035C>G (p.Tyr2345Ter) c.7032C>G (p.Tyr2344Ter) c.6987C>G (p.Tyr2329Ter) n.7652C>G | dbSNP |
X | g.77508477G>T | CA413704200 | ATRX | c.7353C>A (p.Tyr2451Ter) c.2451C>A (p.Tyr817Ter) c.7239C>A (p.Tyr2413Ter) c.*6981C>A (n.*6981C>A) n.5673C>A c.7350C>A (p.Tyr2450Ter) c.7266C>A (p.Tyr2422Ter) c.7236C>A (p.Tyr2412Ter) c.7188C>A (p.Tyr2396Ter) c.7149C>A (p.Tyr2383Ter) c.7074C>A (p.Tyr2358Ter) n.8945C>A c.7263C>A (p.Tyr2421Ter) c.7233C>A (p.Tyr2411Ter) c.7185C>A (p.Tyr2395Ter) c.7152C>A (p.Tyr2384Ter) c.7122C>A (p.Tyr2374Ter) c.7119C>A (p.Tyr2373Ter) c.7071C>A (p.Tyr2357Ter) c.7035C>A (p.Tyr2345Ter) c.7032C>A (p.Tyr2344Ter) c.6987C>A (p.Tyr2329Ter) n.7652C>A | dbSNP |
X | g.77508478T>A | CA413704205 | ATRX | c.7352A>T (p.Tyr2451Phe) c.2450A>T (p.Tyr817Phe) c.7238A>T (p.Tyr2413Phe) c.*6980A>T (n.*6980A>T) n.5672A>T c.7349A>T (p.Tyr2450Phe) c.7265A>T (p.Tyr2422Phe) c.7235A>T (p.Tyr2412Phe) c.7187A>T (p.Tyr2396Phe) c.7148A>T (p.Tyr2383Phe) c.7073A>T (p.Tyr2358Phe) n.8944A>T c.7262A>T (p.Tyr2421Phe) c.7232A>T (p.Tyr2411Phe) c.7184A>T (p.Tyr2395Phe) c.7151A>T (p.Tyr2384Phe) c.7121A>T (p.Tyr2374Phe) c.7118A>T (p.Tyr2373Phe) c.7070A>T (p.Tyr2357Phe) c.7034A>T (p.Tyr2345Phe) c.7031A>T (p.Tyr2344Phe) c.6986A>T (p.Tyr2329Phe) n.7651A>T | dbSNP |
X | g.77508478T>C | CA413704209 | ATRX | c.7352A>G (p.Tyr2451Cys) c.2450A>G (p.Tyr817Cys) c.7238A>G (p.Tyr2413Cys) c.*6980A>G (n.*6980A>G) n.5672A>G c.7349A>G (p.Tyr2450Cys) c.7265A>G (p.Tyr2422Cys) c.7235A>G (p.Tyr2412Cys) c.7187A>G (p.Tyr2396Cys) c.7148A>G (p.Tyr2383Cys) c.7073A>G (p.Tyr2358Cys) n.8944A>G c.7262A>G (p.Tyr2421Cys) c.7232A>G (p.Tyr2411Cys) c.7184A>G (p.Tyr2395Cys) c.7151A>G (p.Tyr2384Cys) c.7121A>G (p.Tyr2374Cys) c.7118A>G (p.Tyr2373Cys) c.7070A>G (p.Tyr2357Cys) c.7034A>G (p.Tyr2345Cys) c.7031A>G (p.Tyr2344Cys) c.6986A>G (p.Tyr2329Cys) n.7651A>G | |
X | g.77508478T>G | CA413704216 | ATRX | c.7352A>C (p.Tyr2451Ser) c.2450A>C (p.Tyr817Ser) c.7238A>C (p.Tyr2413Ser) c.*6980A>C (n.*6980A>C) n.5672A>C c.7349A>C (p.Tyr2450Ser) c.7265A>C (p.Tyr2422Ser) c.7235A>C (p.Tyr2412Ser) c.7187A>C (p.Tyr2396Ser) c.7148A>C (p.Tyr2383Ser) c.7073A>C (p.Tyr2358Ser) n.8944A>C c.7262A>C (p.Tyr2421Ser) c.7232A>C (p.Tyr2411Ser) c.7184A>C (p.Tyr2395Ser) c.7151A>C (p.Tyr2384Ser) c.7121A>C (p.Tyr2374Ser) c.7118A>C (p.Tyr2373Ser) c.7070A>C (p.Tyr2357Ser) c.7034A>C (p.Tyr2345Ser) c.7031A>C (p.Tyr2344Ser) c.6986A>C (p.Tyr2329Ser) n.7651A>C | dbSNP |
X | g.77508479A>C | CA413704220 | ATRX | c.7351T>G (p.Tyr2451Asp) c.2449T>G (p.Tyr817Asp) c.7237T>G (p.Tyr2413Asp) c.*6979T>G (n.*6979T>G) n.5671T>G c.7348T>G (p.Tyr2450Asp) c.7264T>G (p.Tyr2422Asp) c.7234T>G (p.Tyr2412Asp) c.7186T>G (p.Tyr2396Asp) c.7147T>G (p.Tyr2383Asp) c.7072T>G (p.Tyr2358Asp) n.8943T>G c.7261T>G (p.Tyr2421Asp) c.7231T>G (p.Tyr2411Asp) c.7183T>G (p.Tyr2395Asp) c.7150T>G (p.Tyr2384Asp) c.7120T>G (p.Tyr2374Asp) c.7117T>G (p.Tyr2373Asp) c.7069T>G (p.Tyr2357Asp) c.7033T>G (p.Tyr2345Asp) c.7030T>G (p.Tyr2344Asp) c.6985T>G (p.Tyr2329Asp) n.7650T>G | |
X | g.77508479A>G | CA413704217 | ATRX | c.7351T>C (p.Tyr2451His) c.2449T>C (p.Tyr817His) c.7237T>C (p.Tyr2413His) c.*6979T>C (n.*6979T>C) n.5671T>C c.7348T>C (p.Tyr2450His) c.7264T>C (p.Tyr2422His) c.7234T>C (p.Tyr2412His) c.7186T>C (p.Tyr2396His) c.7147T>C (p.Tyr2383His) c.7072T>C (p.Tyr2358His) n.8943T>C c.7261T>C (p.Tyr2421His) c.7231T>C (p.Tyr2411His) c.7183T>C (p.Tyr2395His) c.7150T>C (p.Tyr2384His) c.7120T>C (p.Tyr2374His) c.7117T>C (p.Tyr2373His) c.7069T>C (p.Tyr2357His) c.7033T>C (p.Tyr2345His) c.7030T>C (p.Tyr2344His) c.6985T>C (p.Tyr2329His) n.7650T>C | |
X | g.77508479A>T | CA413704218 | ATRX | c.7351T>A (p.Tyr2451Asn) c.2449T>A (p.Tyr817Asn) c.7237T>A (p.Tyr2413Asn) c.*6979T>A (n.*6979T>A) n.5671T>A c.7348T>A (p.Tyr2450Asn) c.7264T>A (p.Tyr2422Asn) c.7234T>A (p.Tyr2412Asn) c.7186T>A (p.Tyr2396Asn) c.7147T>A (p.Tyr2383Asn) c.7072T>A (p.Tyr2358Asn) n.8943T>A c.7261T>A (p.Tyr2421Asn) c.7231T>A (p.Tyr2411Asn) c.7183T>A (p.Tyr2395Asn) c.7150T>A (p.Tyr2384Asn) c.7120T>A (p.Tyr2374Asn) c.7117T>A (p.Tyr2373Asn) c.7069T>A (p.Tyr2357Asn) c.7033T>A (p.Tyr2345Asn) c.7030T>A (p.Tyr2344Asn) c.6985T>A (p.Tyr2329Asn) n.7650T>A | dbSNP |
X | g.77508480G>A | CA517374091 | ATRX | c.7350C>T (p.Asn2450=) c.2448C>T (p.Asn816=) c.7236C>T (p.Asn2412=) c.*6978C>T (n.*6978C>T) n.5670C>T c.7347C>T (p.Asn2449=) c.7263C>T (p.Asn2421=) c.7233C>T (p.Asn2411=) c.7185C>T (p.Asn2395=) c.7146C>T (p.Asn2382=) c.7071C>T (p.Asn2357=) n.8942C>T c.7260C>T (p.Asn2420=) c.7230C>T (p.Asn2410=) c.7182C>T (p.Asn2394=) c.7149C>T (p.Asn2383=) c.7119C>T (p.Asn2373=) c.7116C>T (p.Asn2372=) c.7068C>T (p.Asn2356=) c.7032C>T (p.Asn2344=) c.7029C>T (p.Asn2343=) c.6984C>T (p.Asn2328=) n.7649C>T | ClinVar dbSNP gnomAD v4 |
X | g.77508480G>C | CA413704223 | ATRX | c.7350C>G (p.Asn2450Lys) c.2448C>G (p.Asn816Lys) c.7236C>G (p.Asn2412Lys) c.*6978C>G (n.*6978C>G) n.5670C>G c.7347C>G (p.Asn2449Lys) c.7263C>G (p.Asn2421Lys) c.7233C>G (p.Asn2411Lys) c.7185C>G (p.Asn2395Lys) c.7146C>G (p.Asn2382Lys) c.7071C>G (p.Asn2357Lys) n.8942C>G c.7260C>G (p.Asn2420Lys) c.7230C>G (p.Asn2410Lys) c.7182C>G (p.Asn2394Lys) c.7149C>G (p.Asn2383Lys) c.7119C>G (p.Asn2373Lys) c.7116C>G (p.Asn2372Lys) c.7068C>G (p.Asn2356Lys) c.7032C>G (p.Asn2344Lys) c.7029C>G (p.Asn2343Lys) c.6984C>G (p.Asn2328Lys) n.7649C>G | ClinVar dbSNP |
X | g.77508480G>T | CA413704226 | ATRX | c.7350C>A (p.Asn2450Lys) c.2448C>A (p.Asn816Lys) c.7236C>A (p.Asn2412Lys) c.*6978C>A (n.*6978C>A) n.5670C>A c.7347C>A (p.Asn2449Lys) c.7263C>A (p.Asn2421Lys) c.7233C>A (p.Asn2411Lys) c.7185C>A (p.Asn2395Lys) c.7146C>A (p.Asn2382Lys) c.7071C>A (p.Asn2357Lys) n.8942C>A c.7260C>A (p.Asn2420Lys) c.7230C>A (p.Asn2410Lys) c.7182C>A (p.Asn2394Lys) c.7149C>A (p.Asn2383Lys) c.7119C>A (p.Asn2373Lys) c.7116C>A (p.Asn2372Lys) c.7068C>A (p.Asn2356Lys) c.7032C>A (p.Asn2344Lys) c.7029C>A (p.Asn2343Lys) c.6984C>A (p.Asn2328Lys) n.7649C>A | |
X | g.77508481T>A | CA413704229 | ATRX | c.7349A>T (p.Asn2450Ile) c.2447A>T (p.Asn816Ile) c.7235A>T (p.Asn2412Ile) c.*6977A>T (n.*6977A>T) n.5669A>T n.580A>T c.7346A>T (p.Asn2449Ile) c.7262A>T (p.Asn2421Ile) c.7232A>T (p.Asn2411Ile) c.7184A>T (p.Asn2395Ile) c.7145A>T (p.Asn2382Ile) c.7070A>T (p.Asn2357Ile) n.8941A>T c.7259A>T (p.Asn2420Ile) c.7229A>T (p.Asn2410Ile) c.7181A>T (p.Asn2394Ile) c.7148A>T (p.Asn2383Ile) c.7118A>T (p.Asn2373Ile) c.7115A>T (p.Asn2372Ile) c.7067A>T (p.Asn2356Ile) c.7031A>T (p.Asn2344Ile) c.7028A>T (p.Asn2343Ile) c.6983A>T (p.Asn2328Ile) n.7648A>T | |
X | g.77508481T>C | CA10457392 | ATRX | c.7349A>G (p.Asn2450Ser) c.2447A>G (p.Asn816Ser) c.7235A>G (p.Asn2412Ser) c.*6977A>G (n.*6977A>G) n.5669A>G n.580A>G c.7346A>G (p.Asn2449Ser) c.7262A>G (p.Asn2421Ser) c.7232A>G (p.Asn2411Ser) c.7184A>G (p.Asn2395Ser) c.7145A>G (p.Asn2382Ser) c.7070A>G (p.Asn2357Ser) n.8941A>G c.7259A>G (p.Asn2420Ser) c.7229A>G (p.Asn2410Ser) c.7181A>G (p.Asn2394Ser) c.7148A>G (p.Asn2383Ser) c.7118A>G (p.Asn2373Ser) c.7115A>G (p.Asn2372Ser) c.7067A>G (p.Asn2356Ser) c.7031A>G (p.Asn2344Ser) c.7028A>G (p.Asn2343Ser) c.6983A>G (p.Asn2328Ser) n.7648A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.77508481T>G | CA413704234 | ATRX | c.7349A>C (p.Asn2450Thr) c.2447A>C (p.Asn816Thr) c.7235A>C (p.Asn2412Thr) c.*6977A>C (n.*6977A>C) n.5669A>C n.580A>C c.7346A>C (p.Asn2449Thr) c.7262A>C (p.Asn2421Thr) c.7232A>C (p.Asn2411Thr) c.7184A>C (p.Asn2395Thr) c.7145A>C (p.Asn2382Thr) c.7070A>C (p.Asn2357Thr) n.8941A>C c.7259A>C (p.Asn2420Thr) c.7229A>C (p.Asn2410Thr) c.7181A>C (p.Asn2394Thr) c.7148A>C (p.Asn2383Thr) c.7118A>C (p.Asn2373Thr) c.7115A>C (p.Asn2372Thr) c.7067A>C (p.Asn2356Thr) c.7031A>C (p.Asn2344Thr) c.7028A>C (p.Asn2343Thr) c.6983A>C (p.Asn2328Thr) n.7648A>C | |
X | g.77508481T= | CA2438929050 | ATRX | c.7349A= (p.Asn2450=) c.2447A= (p.Asn816=) c.7235A= (p.Asn2412=) c.*6977A= (n.*6977A=) n.5669A= n.580A= c.7346A= (p.Asn2449=) c.7262A= (p.Asn2421=) c.7232A= (p.Asn2411=) c.7184A= (p.Asn2395=) c.7145A= (p.Asn2382=) c.7070A= (p.Asn2357=) n.8941A= c.7259A= (p.Asn2420=) c.7229A= (p.Asn2410=) c.7181A= (p.Asn2394=) c.7148A= (p.Asn2383=) c.7118A= (p.Asn2373=) c.7115A= (p.Asn2372=) c.7067A= (p.Asn2356=) c.7031A= (p.Asn2344=) c.7028A= (p.Asn2343=) c.6983A= (p.Asn2328=) n.7648A= | |
X | g.77508482T>A | CA413704237 | ATRX | c.7348A>T (p.Asn2450Tyr) c.2446A>T (p.Asn816Tyr) c.7234A>T (p.Asn2412Tyr) c.*6976A>T (n.*6976A>T) n.5668A>T n.579A>T c.7345A>T (p.Asn2449Tyr) c.7261A>T (p.Asn2421Tyr) c.7231A>T (p.Asn2411Tyr) c.7183A>T (p.Asn2395Tyr) c.7144A>T (p.Asn2382Tyr) c.7069A>T (p.Asn2357Tyr) n.8940A>T c.7258A>T (p.Asn2420Tyr) c.7228A>T (p.Asn2410Tyr) c.7180A>T (p.Asn2394Tyr) c.7147A>T (p.Asn2383Tyr) c.7117A>T (p.Asn2373Tyr) c.7114A>T (p.Asn2372Tyr) c.7066A>T (p.Asn2356Tyr) c.7030A>T (p.Asn2344Tyr) c.7027A>T (p.Asn2343Tyr) c.6982A>T (p.Asn2328Tyr) n.7647A>T | |
X | g.77508482T>C | CA413704240 | ATRX | c.7348A>G (p.Asn2450Asp) c.2446A>G (p.Asn816Asp) c.7234A>G (p.Asn2412Asp) c.*6976A>G (n.*6976A>G) n.5668A>G n.579A>G c.7345A>G (p.Asn2449Asp) c.7261A>G (p.Asn2421Asp) c.7231A>G (p.Asn2411Asp) c.7183A>G (p.Asn2395Asp) c.7144A>G (p.Asn2382Asp) c.7069A>G (p.Asn2357Asp) n.8940A>G c.7258A>G (p.Asn2420Asp) c.7228A>G (p.Asn2410Asp) c.7180A>G (p.Asn2394Asp) c.7147A>G (p.Asn2383Asp) c.7117A>G (p.Asn2373Asp) c.7114A>G (p.Asn2372Asp) c.7066A>G (p.Asn2356Asp) c.7030A>G (p.Asn2344Asp) c.7027A>G (p.Asn2343Asp) c.6982A>G (p.Asn2328Asp) n.7647A>G | |
X | g.77508482T>G | CA413704242 | ATRX | c.7348A>C (p.Asn2450His) c.2446A>C (p.Asn816His) c.7234A>C (p.Asn2412His) c.*6976A>C (n.*6976A>C) n.5668A>C n.579A>C c.7345A>C (p.Asn2449His) c.7261A>C (p.Asn2421His) c.7231A>C (p.Asn2411His) c.7183A>C (p.Asn2395His) c.7144A>C (p.Asn2382His) c.7069A>C (p.Asn2357His) n.8940A>C c.7258A>C (p.Asn2420His) c.7228A>C (p.Asn2410His) c.7180A>C (p.Asn2394His) c.7147A>C (p.Asn2383His) c.7117A>C (p.Asn2373His) c.7114A>C (p.Asn2372His) c.7066A>C (p.Asn2356His) c.7030A>C (p.Asn2344His) c.7027A>C (p.Asn2343His) c.6982A>C (p.Asn2328His) n.7647A>C | |
X | g.77508483A>C | CA517374095 | ATRX | c.7347T>G (p.Ser2449=) c.2445T>G (p.Ser815=) c.7233T>G (p.Ser2411=) c.*6975T>G (n.*6975T>G) n.5667T>G n.578T>G c.7344T>G (p.Ser2448=) c.7260T>G (p.Ser2420=) c.7230T>G (p.Ser2410=) c.7182T>G (p.Ser2394=) c.7143T>G (p.Ser2381=) c.7068T>G (p.Ser2356=) n.8939T>G c.7257T>G (p.Ser2419=) c.7227T>G (p.Ser2409=) c.7179T>G (p.Ser2393=) c.7146T>G (p.Ser2382=) c.7116T>G (p.Ser2372=) c.7113T>G (p.Ser2371=) c.7065T>G (p.Ser2355=) c.7029T>G (p.Ser2343=) c.7026T>G (p.Ser2342=) c.6981T>G (p.Ser2327=) n.7646T>G | ClinVar dbSNP |
X | g.77508483A>G | CA517374097 | ATRX | c.7347T>C (p.Ser2449=) c.2445T>C (p.Ser815=) c.7233T>C (p.Ser2411=) c.*6975T>C (n.*6975T>C) n.5667T>C n.578T>C c.7344T>C (p.Ser2448=) c.7260T>C (p.Ser2420=) c.7230T>C (p.Ser2410=) c.7182T>C (p.Ser2394=) c.7143T>C (p.Ser2381=) c.7068T>C (p.Ser2356=) n.8939T>C c.7257T>C (p.Ser2419=) c.7227T>C (p.Ser2409=) c.7179T>C (p.Ser2393=) c.7146T>C (p.Ser2382=) c.7116T>C (p.Ser2372=) c.7113T>C (p.Ser2371=) c.7065T>C (p.Ser2355=) c.7029T>C (p.Ser2343=) c.7026T>C (p.Ser2342=) c.6981T>C (p.Ser2327=) n.7646T>C | |
X | g.77508483A>T | CA517374096 | ATRX | c.7347T>A (p.Ser2449=) c.2445T>A (p.Ser815=) c.7233T>A (p.Ser2411=) c.*6975T>A (n.*6975T>A) n.5667T>A n.578T>A c.7344T>A (p.Ser2448=) c.7260T>A (p.Ser2420=) c.7230T>A (p.Ser2410=) c.7182T>A (p.Ser2394=) c.7143T>A (p.Ser2381=) c.7068T>A (p.Ser2356=) n.8939T>A c.7257T>A (p.Ser2419=) c.7227T>A (p.Ser2409=) c.7179T>A (p.Ser2393=) c.7146T>A (p.Ser2382=) c.7116T>A (p.Ser2372=) c.7113T>A (p.Ser2371=) c.7065T>A (p.Ser2355=) c.7029T>A (p.Ser2343=) c.7026T>A (p.Ser2342=) c.6981T>A (p.Ser2327=) n.7646T>A | dbSNP |
X | g.77508484G>A | CA413704245 | ATRX | c.7346C>T (p.Ser2449Phe) c.2444C>T (p.Ser815Phe) c.7232C>T (p.Ser2411Phe) c.*6974C>T (n.*6974C>T) n.5666C>T n.577C>T c.7343C>T (p.Ser2448Phe) c.7259C>T (p.Ser2420Phe) c.7229C>T (p.Ser2410Phe) c.7181C>T (p.Ser2394Phe) c.7142C>T (p.Ser2381Phe) c.7067C>T (p.Ser2356Phe) n.8938C>T c.7256C>T (p.Ser2419Phe) c.7226C>T (p.Ser2409Phe) c.7178C>T (p.Ser2393Phe) c.7145C>T (p.Ser2382Phe) c.7115C>T (p.Ser2372Phe) c.7112C>T (p.Ser2371Phe) c.7064C>T (p.Ser2355Phe) c.7028C>T (p.Ser2343Phe) c.7025C>T (p.Ser2342Phe) c.6980C>T (p.Ser2327Phe) n.7645C>T | |
X | g.77508484G>C | CA413704246 | ATRX | c.7346C>G (p.Ser2449Cys) c.2444C>G (p.Ser815Cys) c.7232C>G (p.Ser2411Cys) c.*6974C>G (n.*6974C>G) n.5666C>G n.577C>G c.7343C>G (p.Ser2448Cys) c.7259C>G (p.Ser2420Cys) c.7229C>G (p.Ser2410Cys) c.7181C>G (p.Ser2394Cys) c.7142C>G (p.Ser2381Cys) c.7067C>G (p.Ser2356Cys) n.8938C>G c.7256C>G (p.Ser2419Cys) c.7226C>G (p.Ser2409Cys) c.7178C>G (p.Ser2393Cys) c.7145C>G (p.Ser2382Cys) c.7115C>G (p.Ser2372Cys) c.7112C>G (p.Ser2371Cys) c.7064C>G (p.Ser2355Cys) c.7028C>G (p.Ser2343Cys) c.7025C>G (p.Ser2342Cys) c.6980C>G (p.Ser2327Cys) n.7645C>G | dbSNP |
X | g.77508484G>T | CA413704248 | ATRX | c.7346C>A (p.Ser2449Tyr) c.2444C>A (p.Ser815Tyr) c.7232C>A (p.Ser2411Tyr) c.*6974C>A (n.*6974C>A) n.5666C>A n.577C>A c.7343C>A (p.Ser2448Tyr) c.7259C>A (p.Ser2420Tyr) c.7229C>A (p.Ser2410Tyr) c.7181C>A (p.Ser2394Tyr) c.7142C>A (p.Ser2381Tyr) c.7067C>A (p.Ser2356Tyr) n.8938C>A c.7256C>A (p.Ser2419Tyr) c.7226C>A (p.Ser2409Tyr) c.7178C>A (p.Ser2393Tyr) c.7145C>A (p.Ser2382Tyr) c.7115C>A (p.Ser2372Tyr) c.7112C>A (p.Ser2371Tyr) c.7064C>A (p.Ser2355Tyr) c.7028C>A (p.Ser2343Tyr) c.7025C>A (p.Ser2342Tyr) c.6980C>A (p.Ser2327Tyr) n.7645C>A | |
X | g.77508485A>C | CA413704251 | ATRX | c.7345T>G (p.Ser2449Ala) c.2443T>G (p.Ser815Ala) c.7231T>G (p.Ser2411Ala) c.*6973T>G (n.*6973T>G) n.5665T>G n.576T>G c.7342T>G (p.Ser2448Ala) c.7258T>G (p.Ser2420Ala) c.7228T>G (p.Ser2410Ala) c.7180T>G (p.Ser2394Ala) c.7141T>G (p.Ser2381Ala) c.7066T>G (p.Ser2356Ala) n.8937T>G c.7255T>G (p.Ser2419Ala) c.7225T>G (p.Ser2409Ala) c.7177T>G (p.Ser2393Ala) c.7144T>G (p.Ser2382Ala) c.7114T>G (p.Ser2372Ala) c.7111T>G (p.Ser2371Ala) c.7063T>G (p.Ser2355Ala) c.7027T>G (p.Ser2343Ala) c.7024T>G (p.Ser2342Ala) c.6979T>G (p.Ser2327Ala) n.7644T>G | |
X | g.77508485A>G | CA413704259 | ATRX | c.7345T>C (p.Ser2449Pro) c.2443T>C (p.Ser815Pro) c.7231T>C (p.Ser2411Pro) c.*6973T>C (n.*6973T>C) n.5665T>C n.576T>C c.7342T>C (p.Ser2448Pro) c.7258T>C (p.Ser2420Pro) c.7228T>C (p.Ser2410Pro) c.7180T>C (p.Ser2394Pro) c.7141T>C (p.Ser2381Pro) c.7066T>C (p.Ser2356Pro) n.8937T>C c.7255T>C (p.Ser2419Pro) c.7225T>C (p.Ser2409Pro) c.7177T>C (p.Ser2393Pro) c.7144T>C (p.Ser2382Pro) c.7114T>C (p.Ser2372Pro) c.7111T>C (p.Ser2371Pro) c.7063T>C (p.Ser2355Pro) c.7027T>C (p.Ser2343Pro) c.7024T>C (p.Ser2342Pro) c.6979T>C (p.Ser2327Pro) n.7644T>C | |
X | g.77508485A>T | CA413704262 | ATRX | c.7345T>A (p.Ser2449Thr) c.2443T>A (p.Ser815Thr) c.7231T>A (p.Ser2411Thr) c.*6973T>A (n.*6973T>A) n.5665T>A n.576T>A c.7342T>A (p.Ser2448Thr) c.7258T>A (p.Ser2420Thr) c.7228T>A (p.Ser2410Thr) c.7180T>A (p.Ser2394Thr) c.7141T>A (p.Ser2381Thr) c.7066T>A (p.Ser2356Thr) n.8937T>A c.7255T>A (p.Ser2419Thr) c.7225T>A (p.Ser2409Thr) c.7177T>A (p.Ser2393Thr) c.7144T>A (p.Ser2382Thr) c.7114T>A (p.Ser2372Thr) c.7111T>A (p.Ser2371Thr) c.7063T>A (p.Ser2355Thr) c.7027T>A (p.Ser2343Thr) c.7024T>A (p.Ser2342Thr) c.6979T>A (p.Ser2327Thr) n.7644T>A | |
X | g.77508486A>C | CA517374101 | ATRX | c.7344T>G (p.Pro2448=) c.2442T>G (p.Pro814=) c.7230T>G (p.Pro2410=) c.*6972T>G (n.*6972T>G) n.5664T>G n.575T>G c.7341T>G (p.Pro2447=) c.7257T>G (p.Pro2419=) c.7227T>G (p.Pro2409=) c.7179T>G (p.Pro2393=) c.7140T>G (p.Pro2380=) c.7065T>G (p.Pro2355=) n.8936T>G c.7254T>G (p.Pro2418=) c.7224T>G (p.Pro2408=) c.7176T>G (p.Pro2392=) c.7143T>G (p.Pro2381=) c.7113T>G (p.Pro2371=) c.7110T>G (p.Pro2370=) c.7062T>G (p.Pro2354=) c.7026T>G (p.Pro2342=) c.7023T>G (p.Pro2341=) c.6978T>G (p.Pro2326=) n.7643T>G | ClinVar |
X | g.77508486A>G | CA517374102 | ATRX | c.7344T>C (p.Pro2448=) c.2442T>C (p.Pro814=) c.7230T>C (p.Pro2410=) c.*6972T>C (n.*6972T>C) n.5664T>C n.575T>C c.7341T>C (p.Pro2447=) c.7257T>C (p.Pro2419=) c.7227T>C (p.Pro2409=) c.7179T>C (p.Pro2393=) c.7140T>C (p.Pro2380=) c.7065T>C (p.Pro2355=) n.8936T>C c.7254T>C (p.Pro2418=) c.7224T>C (p.Pro2408=) c.7176T>C (p.Pro2392=) c.7143T>C (p.Pro2381=) c.7113T>C (p.Pro2371=) c.7110T>C (p.Pro2370=) c.7062T>C (p.Pro2354=) c.7026T>C (p.Pro2342=) c.7023T>C (p.Pro2341=) c.6978T>C (p.Pro2326=) n.7643T>C | |
X | g.77508486A>T | CA517374103 | ATRX | c.7344T>A (p.Pro2448=) c.2442T>A (p.Pro814=) c.7230T>A (p.Pro2410=) c.*6972T>A (n.*6972T>A) n.5664T>A n.575T>A c.7341T>A (p.Pro2447=) c.7257T>A (p.Pro2419=) c.7227T>A (p.Pro2409=) c.7179T>A (p.Pro2393=) c.7140T>A (p.Pro2380=) c.7065T>A (p.Pro2355=) n.8936T>A c.7254T>A (p.Pro2418=) c.7224T>A (p.Pro2408=) c.7176T>A (p.Pro2392=) c.7143T>A (p.Pro2381=) c.7113T>A (p.Pro2371=) c.7110T>A (p.Pro2370=) c.7062T>A (p.Pro2354=) c.7026T>A (p.Pro2342=) c.7023T>A (p.Pro2341=) c.6978T>A (p.Pro2326=) n.7643T>A | |
X | g.77508487G>A | CA413704272 | ATRX | c.7343C>T (p.Pro2448Leu) c.2441C>T (p.Pro814Leu) c.7229C>T (p.Pro2410Leu) c.*6971C>T (n.*6971C>T) n.5663C>T n.574C>T c.7340C>T (p.Pro2447Leu) c.7256C>T (p.Pro2419Leu) c.7226C>T (p.Pro2409Leu) c.7178C>T (p.Pro2393Leu) c.7139C>T (p.Pro2380Leu) c.7064C>T (p.Pro2355Leu) n.8935C>T c.7253C>T (p.Pro2418Leu) c.7223C>T (p.Pro2408Leu) c.7175C>T (p.Pro2392Leu) c.7142C>T (p.Pro2381Leu) c.7112C>T (p.Pro2371Leu) c.7109C>T (p.Pro2370Leu) c.7061C>T (p.Pro2354Leu) c.7025C>T (p.Pro2342Leu) c.7022C>T (p.Pro2341Leu) c.6977C>T (p.Pro2326Leu) n.7642C>T | dbSNP |
X | g.77508487G>C | CA413704268 | ATRX | c.7343C>G (p.Pro2448Arg) c.2441C>G (p.Pro814Arg) c.7229C>G (p.Pro2410Arg) c.*6971C>G (n.*6971C>G) n.5663C>G n.574C>G c.7340C>G (p.Pro2447Arg) c.7256C>G (p.Pro2419Arg) c.7226C>G (p.Pro2409Arg) c.7178C>G (p.Pro2393Arg) c.7139C>G (p.Pro2380Arg) c.7064C>G (p.Pro2355Arg) n.8935C>G c.7253C>G (p.Pro2418Arg) c.7223C>G (p.Pro2408Arg) c.7175C>G (p.Pro2392Arg) c.7142C>G (p.Pro2381Arg) c.7112C>G (p.Pro2371Arg) c.7109C>G (p.Pro2370Arg) c.7061C>G (p.Pro2354Arg) c.7025C>G (p.Pro2342Arg) c.7022C>G (p.Pro2341Arg) c.6977C>G (p.Pro2326Arg) n.7642C>G | dbSNP |
X | g.77508487G>T | CA413704266 | ATRX | c.7343C>A (p.Pro2448His) c.2441C>A (p.Pro814His) c.7229C>A (p.Pro2410His) c.*6971C>A (n.*6971C>A) n.5663C>A n.574C>A c.7340C>A (p.Pro2447His) c.7256C>A (p.Pro2419His) c.7226C>A (p.Pro2409His) c.7178C>A (p.Pro2393His) c.7139C>A (p.Pro2380His) c.7064C>A (p.Pro2355His) n.8935C>A c.7253C>A (p.Pro2418His) c.7223C>A (p.Pro2408His) c.7175C>A (p.Pro2392His) c.7142C>A (p.Pro2381His) c.7112C>A (p.Pro2371His) c.7109C>A (p.Pro2370His) c.7061C>A (p.Pro2354His) c.7025C>A (p.Pro2342His) c.7022C>A (p.Pro2341His) c.6977C>A (p.Pro2326His) n.7642C>A | COSMIC COSMIC |
X | g.77508488G>A | CA413704275 | ATRX | c.7342C>T (p.Pro2448Ser) c.2440C>T (p.Pro814Ser) c.7228C>T (p.Pro2410Ser) c.*6970C>T (n.*6970C>T) n.5662C>T n.573C>T c.7339C>T (p.Pro2447Ser) c.7255C>T (p.Pro2419Ser) c.7225C>T (p.Pro2409Ser) c.7177C>T (p.Pro2393Ser) c.7138C>T (p.Pro2380Ser) c.7063C>T (p.Pro2355Ser) n.8934C>T c.7252C>T (p.Pro2418Ser) c.7222C>T (p.Pro2408Ser) c.7174C>T (p.Pro2392Ser) c.7141C>T (p.Pro2381Ser) c.7111C>T (p.Pro2371Ser) c.7108C>T (p.Pro2370Ser) c.7060C>T (p.Pro2354Ser) c.7024C>T (p.Pro2342Ser) c.7021C>T (p.Pro2341Ser) c.6976C>T (p.Pro2326Ser) n.7641C>T | dbSNP |
X | g.77508488G>C | CA413704278 | ATRX | c.7342C>G (p.Pro2448Ala) c.2440C>G (p.Pro814Ala) c.7228C>G (p.Pro2410Ala) c.*6970C>G (n.*6970C>G) n.5662C>G n.573C>G c.7339C>G (p.Pro2447Ala) c.7255C>G (p.Pro2419Ala) c.7225C>G (p.Pro2409Ala) c.7177C>G (p.Pro2393Ala) c.7138C>G (p.Pro2380Ala) c.7063C>G (p.Pro2355Ala) n.8934C>G c.7252C>G (p.Pro2418Ala) c.7222C>G (p.Pro2408Ala) c.7174C>G (p.Pro2392Ala) c.7141C>G (p.Pro2381Ala) c.7111C>G (p.Pro2371Ala) c.7108C>G (p.Pro2370Ala) c.7060C>G (p.Pro2354Ala) c.7024C>G (p.Pro2342Ala) c.7021C>G (p.Pro2341Ala) c.6976C>G (p.Pro2326Ala) n.7641C>G | dbSNP |
X | g.77508488G>T | CA413704280 | ATRX | c.7342C>A (p.Pro2448Thr) c.2440C>A (p.Pro814Thr) c.7228C>A (p.Pro2410Thr) c.*6970C>A (n.*6970C>A) n.5662C>A n.573C>A c.7339C>A (p.Pro2447Thr) c.7255C>A (p.Pro2419Thr) c.7225C>A (p.Pro2409Thr) c.7177C>A (p.Pro2393Thr) c.7138C>A (p.Pro2380Thr) c.7063C>A (p.Pro2355Thr) n.8934C>A c.7252C>A (p.Pro2418Thr) c.7222C>A (p.Pro2408Thr) c.7174C>A (p.Pro2392Thr) c.7141C>A (p.Pro2381Thr) c.7111C>A (p.Pro2371Thr) c.7108C>A (p.Pro2370Thr) c.7060C>A (p.Pro2354Thr) c.7024C>A (p.Pro2342Thr) c.7021C>A (p.Pro2341Thr) c.6976C>A (p.Pro2326Thr) n.7641C>A | |
X | g.77508489A>C | CA413704285 | ATRX | c.7341T>G (p.Asn2447Lys) c.2439T>G (p.Asn813Lys) c.7227T>G (p.Asn2409Lys) c.*6969T>G (n.*6969T>G) n.5661T>G n.572T>G c.7338T>G (p.Asn2446Lys) c.7254T>G (p.Asn2418Lys) c.7224T>G (p.Asn2408Lys) c.7176T>G (p.Asn2392Lys) c.7137T>G (p.Asn2379Lys) c.7062T>G (p.Asn2354Lys) n.8933T>G c.7251T>G (p.Asn2417Lys) c.7221T>G (p.Asn2407Lys) c.7173T>G (p.Asn2391Lys) c.7140T>G (p.Asn2380Lys) c.7110T>G (p.Asn2370Lys) c.7107T>G (p.Asn2369Lys) c.7059T>G (p.Asn2353Lys) c.7023T>G (p.Asn2341Lys) c.7020T>G (p.Asn2340Lys) c.6975T>G (p.Asn2325Lys) n.7640T>G | |
X | g.77508489A>G | CA517374106 | ATRX | c.7341T>C (p.Asn2447=) c.2439T>C (p.Asn813=) c.7227T>C (p.Asn2409=) c.*6969T>C (n.*6969T>C) n.5661T>C n.572T>C c.7338T>C (p.Asn2446=) c.7254T>C (p.Asn2418=) c.7224T>C (p.Asn2408=) c.7176T>C (p.Asn2392=) c.7137T>C (p.Asn2379=) c.7062T>C (p.Asn2354=) n.8933T>C c.7251T>C (p.Asn2417=) c.7221T>C (p.Asn2407=) c.7173T>C (p.Asn2391=) c.7140T>C (p.Asn2380=) c.7110T>C (p.Asn2370=) c.7107T>C (p.Asn2369=) c.7059T>C (p.Asn2353=) c.7023T>C (p.Asn2341=) c.7020T>C (p.Asn2340=) c.6975T>C (p.Asn2325=) n.7640T>C | |
X | g.77508489A>T | CA413704288 | ATRX | c.7341T>A (p.Asn2447Lys) c.2439T>A (p.Asn813Lys) c.7227T>A (p.Asn2409Lys) c.*6969T>A (n.*6969T>A) n.5661T>A n.572T>A c.7338T>A (p.Asn2446Lys) c.7254T>A (p.Asn2418Lys) c.7224T>A (p.Asn2408Lys) c.7176T>A (p.Asn2392Lys) c.7137T>A (p.Asn2379Lys) c.7062T>A (p.Asn2354Lys) n.8933T>A c.7251T>A (p.Asn2417Lys) c.7221T>A (p.Asn2407Lys) c.7173T>A (p.Asn2391Lys) c.7140T>A (p.Asn2380Lys) c.7110T>A (p.Asn2370Lys) c.7107T>A (p.Asn2369Lys) c.7059T>A (p.Asn2353Lys) c.7023T>A (p.Asn2341Lys) c.7020T>A (p.Asn2340Lys) c.6975T>A (p.Asn2325Lys) n.7640T>A | dbSNP |
X | g.77508490T>A | CA413704291 | ATRX | c.7340A>T (p.Asn2447Ile) c.2438A>T (p.Asn813Ile) c.7226A>T (p.Asn2409Ile) c.*6968A>T (n.*6968A>T) n.5660A>T n.571A>T c.7337A>T (p.Asn2446Ile) c.7253A>T (p.Asn2418Ile) c.7223A>T (p.Asn2408Ile) c.7175A>T (p.Asn2392Ile) c.7136A>T (p.Asn2379Ile) c.7061A>T (p.Asn2354Ile) n.8932A>T c.7250A>T (p.Asn2417Ile) c.7220A>T (p.Asn2407Ile) c.7172A>T (p.Asn2391Ile) c.7139A>T (p.Asn2380Ile) c.7109A>T (p.Asn2370Ile) c.7106A>T (p.Asn2369Ile) c.7058A>T (p.Asn2353Ile) c.7022A>T (p.Asn2341Ile) c.7019A>T (p.Asn2340Ile) c.6974A>T (p.Asn2325Ile) n.7639A>T | |
X | g.77508490T>C | CA413704293 | ATRX | c.7340A>G (p.Asn2447Ser) c.2438A>G (p.Asn813Ser) c.7226A>G (p.Asn2409Ser) c.*6968A>G (n.*6968A>G) n.5660A>G n.571A>G c.7337A>G (p.Asn2446Ser) c.7253A>G (p.Asn2418Ser) c.7223A>G (p.Asn2408Ser) c.7175A>G (p.Asn2392Ser) c.7136A>G (p.Asn2379Ser) c.7061A>G (p.Asn2354Ser) n.8932A>G c.7250A>G (p.Asn2417Ser) c.7220A>G (p.Asn2407Ser) c.7172A>G (p.Asn2391Ser) c.7139A>G (p.Asn2380Ser) c.7109A>G (p.Asn2370Ser) c.7106A>G (p.Asn2369Ser) c.7058A>G (p.Asn2353Ser) c.7022A>G (p.Asn2341Ser) c.7019A>G (p.Asn2340Ser) c.6974A>G (p.Asn2325Ser) n.7639A>G | dbSNP |
X | g.77508490T>G | CA413704296 | ATRX | c.7340A>C (p.Asn2447Thr) c.2438A>C (p.Asn813Thr) c.7226A>C (p.Asn2409Thr) c.*6968A>C (n.*6968A>C) n.5660A>C n.571A>C c.7337A>C (p.Asn2446Thr) c.7253A>C (p.Asn2418Thr) c.7223A>C (p.Asn2408Thr) c.7175A>C (p.Asn2392Thr) c.7136A>C (p.Asn2379Thr) c.7061A>C (p.Asn2354Thr) n.8932A>C c.7250A>C (p.Asn2417Thr) c.7220A>C (p.Asn2407Thr) c.7172A>C (p.Asn2391Thr) c.7139A>C (p.Asn2380Thr) c.7109A>C (p.Asn2370Thr) c.7106A>C (p.Asn2369Thr) c.7058A>C (p.Asn2353Thr) c.7022A>C (p.Asn2341Thr) c.7019A>C (p.Asn2340Thr) c.6974A>C (p.Asn2325Thr) n.7639A>C | COSMIC COSMIC |
X | g.77508491T>A | CA413704300 | ATRX | c.7339A>T (p.Asn2447Tyr) c.2437A>T (p.Asn813Tyr) c.7225A>T (p.Asn2409Tyr) c.*6967A>T (n.*6967A>T) n.5659A>T n.570A>T c.7336A>T (p.Asn2446Tyr) c.7252A>T (p.Asn2418Tyr) c.7222A>T (p.Asn2408Tyr) c.7174A>T (p.Asn2392Tyr) c.7135A>T (p.Asn2379Tyr) c.7060A>T (p.Asn2354Tyr) n.8931A>T c.7249A>T (p.Asn2417Tyr) c.7219A>T (p.Asn2407Tyr) c.7171A>T (p.Asn2391Tyr) c.7138A>T (p.Asn2380Tyr) c.7108A>T (p.Asn2370Tyr) c.7105A>T (p.Asn2369Tyr) c.7057A>T (p.Asn2353Tyr) c.7021A>T (p.Asn2341Tyr) c.7018A>T (p.Asn2340Tyr) c.6973A>T (p.Asn2325Tyr) n.7638A>T | dbSNP |
X | g.77508491T>C | CA413704303 | ATRX | c.7339A>G (p.Asn2447Asp) c.2437A>G (p.Asn813Asp) c.7225A>G (p.Asn2409Asp) c.*6967A>G (n.*6967A>G) n.5659A>G n.570A>G c.7336A>G (p.Asn2446Asp) c.7252A>G (p.Asn2418Asp) c.7222A>G (p.Asn2408Asp) c.7174A>G (p.Asn2392Asp) c.7135A>G (p.Asn2379Asp) c.7060A>G (p.Asn2354Asp) n.8931A>G c.7249A>G (p.Asn2417Asp) c.7219A>G (p.Asn2407Asp) c.7171A>G (p.Asn2391Asp) c.7138A>G (p.Asn2380Asp) c.7108A>G (p.Asn2370Asp) c.7105A>G (p.Asn2369Asp) c.7057A>G (p.Asn2353Asp) c.7021A>G (p.Asn2341Asp) c.7018A>G (p.Asn2340Asp) c.6973A>G (p.Asn2325Asp) n.7638A>G | |
X | g.77508491T>G | CA413704307 | ATRX | c.7339A>C (p.Asn2447His) c.2437A>C (p.Asn813His) c.7225A>C (p.Asn2409His) c.*6967A>C (n.*6967A>C) n.5659A>C n.570A>C c.7336A>C (p.Asn2446His) c.7252A>C (p.Asn2418His) c.7222A>C (p.Asn2408His) c.7174A>C (p.Asn2392His) c.7135A>C (p.Asn2379His) c.7060A>C (p.Asn2354His) n.8931A>C c.7249A>C (p.Asn2417His) c.7219A>C (p.Asn2407His) c.7171A>C (p.Asn2391His) c.7138A>C (p.Asn2380His) c.7108A>C (p.Asn2370His) c.7105A>C (p.Asn2369His) c.7057A>C (p.Asn2353His) c.7021A>C (p.Asn2341His) c.7018A>C (p.Asn2340His) c.6973A>C (p.Asn2325His) n.7638A>C | |
X | g.77508492C>A | CA413704308 | ATRX | c.7338G>T (p.Met2446Ile) c.2436G>T (p.Met812Ile) c.7224G>T (p.Met2408Ile) c.*6966G>T (n.*6966G>T) n.5658G>T n.569G>T c.7335G>T (p.Met2445Ile) c.7251G>T (p.Met2417Ile) c.7221G>T (p.Met2407Ile) c.7173G>T (p.Met2391Ile) c.7134G>T (p.Met2378Ile) c.7059G>T (p.Met2353Ile) n.8930G>T c.7248G>T (p.Met2416Ile) c.7218G>T (p.Met2406Ile) c.7170G>T (p.Met2390Ile) c.7137G>T (p.Met2379Ile) c.7107G>T (p.Met2369Ile) c.7104G>T (p.Met2368Ile) c.7056G>T (p.Met2352Ile) c.7020G>T (p.Met2340Ile) c.7017G>T (p.Met2339Ile) c.6972G>T (p.Met2324Ile) n.7637G>T | |
X | g.77508492C>G | CA413704309 | ATRX | c.7338G>C (p.Met2446Ile) c.2436G>C (p.Met812Ile) c.7224G>C (p.Met2408Ile) c.*6966G>C (n.*6966G>C) n.5658G>C n.569G>C c.7335G>C (p.Met2445Ile) c.7251G>C (p.Met2417Ile) c.7221G>C (p.Met2407Ile) c.7173G>C (p.Met2391Ile) c.7134G>C (p.Met2378Ile) c.7059G>C (p.Met2353Ile) n.8930G>C c.7248G>C (p.Met2416Ile) c.7218G>C (p.Met2406Ile) c.7170G>C (p.Met2390Ile) c.7137G>C (p.Met2379Ile) c.7107G>C (p.Met2369Ile) c.7104G>C (p.Met2368Ile) c.7056G>C (p.Met2352Ile) c.7020G>C (p.Met2340Ile) c.7017G>C (p.Met2339Ile) c.6972G>C (p.Met2324Ile) n.7637G>C | dbSNP |
X | g.77508492C>T | CA413704311 | ATRX | c.7338G>A (p.Met2446Ile) c.2436G>A (p.Met812Ile) c.7224G>A (p.Met2408Ile) c.*6966G>A (n.*6966G>A) n.5658G>A n.569G>A c.7335G>A (p.Met2445Ile) c.7251G>A (p.Met2417Ile) c.7221G>A (p.Met2407Ile) c.7173G>A (p.Met2391Ile) c.7134G>A (p.Met2378Ile) c.7059G>A (p.Met2353Ile) n.8930G>A c.7248G>A (p.Met2416Ile) c.7218G>A (p.Met2406Ile) c.7170G>A (p.Met2390Ile) c.7137G>A (p.Met2379Ile) c.7107G>A (p.Met2369Ile) c.7104G>A (p.Met2368Ile) c.7056G>A (p.Met2352Ile) c.7020G>A (p.Met2340Ile) c.7017G>A (p.Met2339Ile) c.6972G>A (p.Met2324Ile) n.7637G>A | dbSNP |
X | g.77508493A>C | CA413704316 | ATRX | c.7337T>G (p.Met2446Arg) c.2435T>G (p.Met812Arg) c.7223T>G (p.Met2408Arg) c.*6965T>G (n.*6965T>G) n.5657T>G n.568T>G c.7334T>G (p.Met2445Arg) c.7250T>G (p.Met2417Arg) c.7220T>G (p.Met2407Arg) c.7172T>G (p.Met2391Arg) c.7133T>G (p.Met2378Arg) c.7058T>G (p.Met2353Arg) n.8929T>G c.7247T>G (p.Met2416Arg) c.7217T>G (p.Met2406Arg) c.7169T>G (p.Met2390Arg) c.7136T>G (p.Met2379Arg) c.7106T>G (p.Met2369Arg) c.7103T>G (p.Met2368Arg) c.7055T>G (p.Met2352Arg) c.7019T>G (p.Met2340Arg) c.7016T>G (p.Met2339Arg) c.6971T>G (p.Met2324Arg) n.7636T>G | |
X | g.77508493A>G | CA413704322 | ATRX | c.7337T>C (p.Met2446Thr) c.2435T>C (p.Met812Thr) c.7223T>C (p.Met2408Thr) c.*6965T>C (n.*6965T>C) n.5657T>C n.568T>C c.7334T>C (p.Met2445Thr) c.7250T>C (p.Met2417Thr) c.7220T>C (p.Met2407Thr) c.7172T>C (p.Met2391Thr) c.7133T>C (p.Met2378Thr) c.7058T>C (p.Met2353Thr) n.8929T>C c.7247T>C (p.Met2416Thr) c.7217T>C (p.Met2406Thr) c.7169T>C (p.Met2390Thr) c.7136T>C (p.Met2379Thr) c.7106T>C (p.Met2369Thr) c.7103T>C (p.Met2368Thr) c.7055T>C (p.Met2352Thr) c.7019T>C (p.Met2340Thr) c.7016T>C (p.Met2339Thr) c.6971T>C (p.Met2324Thr) n.7636T>C | |
X | g.77508493A>T | CA413704313 | ATRX | c.7337T>A (p.Met2446Lys) c.2435T>A (p.Met812Lys) c.7223T>A (p.Met2408Lys) c.*6965T>A (n.*6965T>A) n.5657T>A n.568T>A c.7334T>A (p.Met2445Lys) c.7250T>A (p.Met2417Lys) c.7220T>A (p.Met2407Lys) c.7172T>A (p.Met2391Lys) c.7133T>A (p.Met2378Lys) c.7058T>A (p.Met2353Lys) n.8929T>A c.7247T>A (p.Met2416Lys) c.7217T>A (p.Met2406Lys) c.7169T>A (p.Met2390Lys) c.7136T>A (p.Met2379Lys) c.7106T>A (p.Met2369Lys) c.7103T>A (p.Met2368Lys) c.7055T>A (p.Met2352Lys) c.7019T>A (p.Met2340Lys) c.7016T>A (p.Met2339Lys) c.6971T>A (p.Met2324Lys) n.7636T>A | dbSNP |
X | g.77508494T>A | CA413704327 | ATRX | c.7336A>T (p.Met2446Leu) c.2434A>T (p.Met812Leu) c.7222A>T (p.Met2408Leu) c.*6964A>T (n.*6964A>T) n.5656A>T n.567A>T c.7333A>T (p.Met2445Leu) c.7249A>T (p.Met2417Leu) c.7219A>T (p.Met2407Leu) c.7171A>T (p.Met2391Leu) c.7132A>T (p.Met2378Leu) c.7057A>T (p.Met2353Leu) n.8928A>T c.7246A>T (p.Met2416Leu) c.7216A>T (p.Met2406Leu) c.7168A>T (p.Met2390Leu) c.7135A>T (p.Met2379Leu) c.7105A>T (p.Met2369Leu) c.7102A>T (p.Met2368Leu) c.7054A>T (p.Met2352Leu) c.7018A>T (p.Met2340Leu) c.7015A>T (p.Met2339Leu) c.6970A>T (p.Met2324Leu) n.7635A>T | |
X | g.77508494T>C | CA413704329 | ATRX | c.7336A>G (p.Met2446Val) c.2434A>G (p.Met812Val) c.7222A>G (p.Met2408Val) c.*6964A>G (n.*6964A>G) n.5656A>G n.567A>G c.7333A>G (p.Met2445Val) c.7249A>G (p.Met2417Val) c.7219A>G (p.Met2407Val) c.7171A>G (p.Met2391Val) c.7132A>G (p.Met2378Val) c.7057A>G (p.Met2353Val) n.8928A>G c.7246A>G (p.Met2416Val) c.7216A>G (p.Met2406Val) c.7168A>G (p.Met2390Val) c.7135A>G (p.Met2379Val) c.7105A>G (p.Met2369Val) c.7102A>G (p.Met2368Val) c.7054A>G (p.Met2352Val) c.7018A>G (p.Met2340Val) c.7015A>G (p.Met2339Val) c.6970A>G (p.Met2324Val) n.7635A>G | dbSNP gnomAD v3 gnomAD v4 |
X | g.77508494T>G | CA413704335 | ATRX | c.7336A>C (p.Met2446Leu) c.2434A>C (p.Met812Leu) c.7222A>C (p.Met2408Leu) c.*6964A>C (n.*6964A>C) n.5656A>C n.567A>C c.7333A>C (p.Met2445Leu) c.7249A>C (p.Met2417Leu) c.7219A>C (p.Met2407Leu) c.7171A>C (p.Met2391Leu) c.7132A>C (p.Met2378Leu) c.7057A>C (p.Met2353Leu) n.8928A>C c.7246A>C (p.Met2416Leu) c.7216A>C (p.Met2406Leu) c.7168A>C (p.Met2390Leu) c.7135A>C (p.Met2379Leu) c.7105A>C (p.Met2369Leu) c.7102A>C (p.Met2368Leu) c.7054A>C (p.Met2352Leu) c.7018A>C (p.Met2340Leu) c.7015A>C (p.Met2339Leu) c.6970A>C (p.Met2324Leu) n.7635A>C | ClinVar |
X | g.77508494T= | CA2438929051 | ATRX | c.7336A= (p.Met2446=) c.2434A= (p.Met812=) c.7222A= (p.Met2408=) c.*6964A= (n.*6964A=) n.5656A= n.567A= c.7333A= (p.Met2445=) c.7249A= (p.Met2417=) c.7219A= (p.Met2407=) c.7171A= (p.Met2391=) c.7132A= (p.Met2378=) c.7057A= (p.Met2353=) n.8928A= c.7246A= (p.Met2416=) c.7216A= (p.Met2406=) c.7168A= (p.Met2390=) c.7135A= (p.Met2379=) c.7105A= (p.Met2369=) c.7102A= (p.Met2368=) c.7054A= (p.Met2352=) c.7018A= (p.Met2340=) c.7015A= (p.Met2339=) c.6970A= (p.Met2324=) n.7635A= | |
X | g.77508495G>A | CA517374111 | ATRX | c.7335C>T (p.Ile2445=) c.2433C>T (p.Ile811=) c.7221C>T (p.Ile2407=) c.*6963C>T (n.*6963C>T) n.5655C>T n.566C>T c.7332C>T (p.Ile2444=) c.7248C>T (p.Ile2416=) c.7218C>T (p.Ile2406=) c.7170C>T (p.Ile2390=) c.7131C>T (p.Ile2377=) c.7056C>T (p.Ile2352=) n.8927C>T c.7245C>T (p.Ile2415=) c.7215C>T (p.Ile2405=) c.7167C>T (p.Ile2389=) c.7134C>T (p.Ile2378=) c.7104C>T (p.Ile2368=) c.7101C>T (p.Ile2367=) c.7053C>T (p.Ile2351=) c.7017C>T (p.Ile2339=) c.7014C>T (p.Ile2338=) c.6969C>T (p.Ile2323=) n.7634C>T | dbSNP |
X | g.77508495G>C | CA413704338 | ATRX | c.7335C>G (p.Ile2445Met) c.2433C>G (p.Ile811Met) c.7221C>G (p.Ile2407Met) c.*6963C>G (n.*6963C>G) n.5655C>G n.566C>G c.7332C>G (p.Ile2444Met) c.7248C>G (p.Ile2416Met) c.7218C>G (p.Ile2406Met) c.7170C>G (p.Ile2390Met) c.7131C>G (p.Ile2377Met) c.7056C>G (p.Ile2352Met) n.8927C>G c.7245C>G (p.Ile2415Met) c.7215C>G (p.Ile2405Met) c.7167C>G (p.Ile2389Met) c.7134C>G (p.Ile2378Met) c.7104C>G (p.Ile2368Met) c.7101C>G (p.Ile2367Met) c.7053C>G (p.Ile2351Met) c.7017C>G (p.Ile2339Met) c.7014C>G (p.Ile2338Met) c.6969C>G (p.Ile2323Met) n.7634C>G | dbSNP |
X | g.77508495G= | CA2438929052 | ATRX | c.7335C= (p.Ile2445=) c.2433C= (p.Ile811=) c.7221C= (p.Ile2407=) c.*6963C= (n.*6963C=) n.5655C= n.566C= c.7332C= (p.Ile2444=) c.7248C= (p.Ile2416=) c.7218C= (p.Ile2406=) c.7170C= (p.Ile2390=) c.7131C= (p.Ile2377=) c.7056C= (p.Ile2352=) n.8927C= c.7245C= (p.Ile2415=) c.7215C= (p.Ile2405=) c.7167C= (p.Ile2389=) c.7134C= (p.Ile2378=) c.7104C= (p.Ile2368=) c.7101C= (p.Ile2367=) c.7053C= (p.Ile2351=) c.7017C= (p.Ile2339=) c.7014C= (p.Ile2338=) c.6969C= (p.Ile2323=) n.7634C= | |
X | g.77508495G>T | CA10457393 | ATRX | c.7335C>A (p.Ile2445=) c.2433C>A (p.Ile811=) c.7221C>A (p.Ile2407=) c.*6963C>A (n.*6963C>A) n.5655C>A n.566C>A c.7332C>A (p.Ile2444=) c.7248C>A (p.Ile2416=) c.7218C>A (p.Ile2406=) c.7170C>A (p.Ile2390=) c.7131C>A (p.Ile2377=) c.7056C>A (p.Ile2352=) n.8927C>A c.7245C>A (p.Ile2415=) c.7215C>A (p.Ile2405=) c.7167C>A (p.Ile2389=) c.7134C>A (p.Ile2378=) c.7104C>A (p.Ile2368=) c.7101C>A (p.Ile2367=) c.7053C>A (p.Ile2351=) c.7017C>A (p.Ile2339=) c.7014C>A (p.Ile2338=) c.6969C>A (p.Ile2323=) n.7634C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.77508496A= | CA2438929053 | ATRX | c.7334T= (p.Ile2445=) c.2432T= (p.Ile811=) c.7220T= (p.Ile2407=) c.*6962T= (n.*6962T=) n.5654T= n.565T= c.7331T= (p.Ile2444=) c.7247T= (p.Ile2416=) c.7217T= (p.Ile2406=) c.7169T= (p.Ile2390=) c.7130T= (p.Ile2377=) c.7055T= (p.Ile2352=) n.8926T= c.7244T= (p.Ile2415=) c.7214T= (p.Ile2405=) c.7166T= (p.Ile2389=) c.7133T= (p.Ile2378=) c.7103T= (p.Ile2368=) c.7100T= (p.Ile2367=) c.7052T= (p.Ile2351=) c.7016T= (p.Ile2339=) c.7013T= (p.Ile2338=) c.6968T= (p.Ile2323=) n.7633T= | |
X | g.77508496A>C | CA413704345 | ATRX | c.7334T>G (p.Ile2445Ser) c.2432T>G (p.Ile811Ser) c.7220T>G (p.Ile2407Ser) c.*6962T>G (n.*6962T>G) n.5654T>G n.565T>G c.7331T>G (p.Ile2444Ser) c.7247T>G (p.Ile2416Ser) c.7217T>G (p.Ile2406Ser) c.7169T>G (p.Ile2390Ser) c.7130T>G (p.Ile2377Ser) c.7055T>G (p.Ile2352Ser) n.8926T>G c.7244T>G (p.Ile2415Ser) c.7214T>G (p.Ile2405Ser) c.7166T>G (p.Ile2389Ser) c.7133T>G (p.Ile2378Ser) c.7103T>G (p.Ile2368Ser) c.7100T>G (p.Ile2367Ser) c.7052T>G (p.Ile2351Ser) c.7016T>G (p.Ile2339Ser) c.7013T>G (p.Ile2338Ser) c.6968T>G (p.Ile2323Ser) n.7633T>G | |
X | g.77508496A>G | CA413704348 | ATRX | c.7334T>C (p.Ile2445Thr) c.2432T>C (p.Ile811Thr) c.7220T>C (p.Ile2407Thr) c.*6962T>C (n.*6962T>C) n.5654T>C n.565T>C c.7331T>C (p.Ile2444Thr) c.7247T>C (p.Ile2416Thr) c.7217T>C (p.Ile2406Thr) c.7169T>C (p.Ile2390Thr) c.7130T>C (p.Ile2377Thr) c.7055T>C (p.Ile2352Thr) n.8926T>C c.7244T>C (p.Ile2415Thr) c.7214T>C (p.Ile2405Thr) c.7166T>C (p.Ile2389Thr) c.7133T>C (p.Ile2378Thr) c.7103T>C (p.Ile2368Thr) c.7100T>C (p.Ile2367Thr) c.7052T>C (p.Ile2351Thr) c.7016T>C (p.Ile2339Thr) c.7013T>C (p.Ile2338Thr) c.6968T>C (p.Ile2323Thr) n.7633T>C | |
X | g.77508496A>T | CA16608989 | ATRX | c.7334T>A (p.Ile2445Asn) c.2432T>A (p.Ile811Asn) c.7220T>A (p.Ile2407Asn) c.*6962T>A (n.*6962T>A) n.5654T>A n.565T>A c.7331T>A (p.Ile2444Asn) c.7247T>A (p.Ile2416Asn) c.7217T>A (p.Ile2406Asn) c.7169T>A (p.Ile2390Asn) c.7130T>A (p.Ile2377Asn) c.7055T>A (p.Ile2352Asn) n.8926T>A c.7244T>A (p.Ile2415Asn) c.7214T>A (p.Ile2405Asn) c.7166T>A (p.Ile2389Asn) c.7133T>A (p.Ile2378Asn) c.7103T>A (p.Ile2368Asn) c.7100T>A (p.Ile2367Asn) c.7052T>A (p.Ile2351Asn) c.7016T>A (p.Ile2339Asn) c.7013T>A (p.Ile2338Asn) c.6968T>A (p.Ile2323Asn) n.7633T>A | ClinVar dbSNP |
X | g.77508497T>A | CA413704354 | ATRX | c.7333A>T (p.Ile2445Phe) c.2431A>T (p.Ile811Phe) c.7219A>T (p.Ile2407Phe) c.*6961A>T (n.*6961A>T) n.5653A>T n.564A>T c.7330A>T (p.Ile2444Phe) c.7246A>T (p.Ile2416Phe) c.7216A>T (p.Ile2406Phe) c.7168A>T (p.Ile2390Phe) c.7129A>T (p.Ile2377Phe) c.7054A>T (p.Ile2352Phe) n.8925A>T c.7243A>T (p.Ile2415Phe) c.7213A>T (p.Ile2405Phe) c.7165A>T (p.Ile2389Phe) c.7132A>T (p.Ile2378Phe) c.7102A>T (p.Ile2368Phe) c.7099A>T (p.Ile2367Phe) c.7051A>T (p.Ile2351Phe) c.7015A>T (p.Ile2339Phe) c.7012A>T (p.Ile2338Phe) c.6967A>T (p.Ile2323Phe) n.7632A>T | gnomAD v4 |
X | g.77508497T>C | CA10457394 | ATRX | c.7333A>G (p.Ile2445Val) c.2431A>G (p.Ile811Val) c.7219A>G (p.Ile2407Val) c.*6961A>G (n.*6961A>G) n.5653A>G n.564A>G c.7330A>G (p.Ile2444Val) c.7246A>G (p.Ile2416Val) c.7216A>G (p.Ile2406Val) c.7168A>G (p.Ile2390Val) c.7129A>G (p.Ile2377Val) c.7054A>G (p.Ile2352Val) n.8925A>G c.7243A>G (p.Ile2415Val) c.7213A>G (p.Ile2405Val) c.7165A>G (p.Ile2389Val) c.7132A>G (p.Ile2378Val) c.7102A>G (p.Ile2368Val) c.7099A>G (p.Ile2367Val) c.7051A>G (p.Ile2351Val) c.7015A>G (p.Ile2339Val) c.7012A>G (p.Ile2338Val) c.6967A>G (p.Ile2323Val) n.7632A>G | dbSNP ExAC |
X | g.77508497T>G | CA413704358 | ATRX | c.7333A>C (p.Ile2445Leu) c.2431A>C (p.Ile811Leu) c.7219A>C (p.Ile2407Leu) c.*6961A>C (n.*6961A>C) n.5653A>C n.564A>C c.7330A>C (p.Ile2444Leu) c.7246A>C (p.Ile2416Leu) c.7216A>C (p.Ile2406Leu) c.7168A>C (p.Ile2390Leu) c.7129A>C (p.Ile2377Leu) c.7054A>C (p.Ile2352Leu) n.8925A>C c.7243A>C (p.Ile2415Leu) c.7213A>C (p.Ile2405Leu) c.7165A>C (p.Ile2389Leu) c.7132A>C (p.Ile2378Leu) c.7102A>C (p.Ile2368Leu) c.7099A>C (p.Ile2367Leu) c.7051A>C (p.Ile2351Leu) c.7015A>C (p.Ile2339Leu) c.7012A>C (p.Ile2338Leu) c.6967A>C (p.Ile2323Leu) n.7632A>C | |
X | g.77508497T= | CA2438929054 | ATRX | c.7333A= (p.Ile2445=) c.2431A= (p.Ile811=) c.7219A= (p.Ile2407=) c.*6961A= (n.*6961A=) n.5653A= n.564A= c.7330A= (p.Ile2444=) c.7246A= (p.Ile2416=) c.7216A= (p.Ile2406=) c.7168A= (p.Ile2390=) c.7129A= (p.Ile2377=) c.7054A= (p.Ile2352=) n.8925A= c.7243A= (p.Ile2415=) c.7213A= (p.Ile2405=) c.7165A= (p.Ile2389=) c.7132A= (p.Ile2378=) c.7102A= (p.Ile2368=) c.7099A= (p.Ile2367=) c.7051A= (p.Ile2351=) c.7015A= (p.Ile2339=) c.7012A= (p.Ile2338=) c.6967A= (p.Ile2323=) n.7632A= | |
X | g.77508498C>A | CA413704362 | ATRX | c.7332G>T (p.Leu2444Phe) c.2430G>T (p.Leu810Phe) c.7218G>T (p.Leu2406Phe) c.*6960G>T (n.*6960G>T) n.5652G>T n.563G>T c.7329G>T (p.Leu2443Phe) c.7245G>T (p.Leu2415Phe) c.7215G>T (p.Leu2405Phe) c.7167G>T (p.Leu2389Phe) c.7128G>T (p.Leu2376Phe) c.7053G>T (p.Leu2351Phe) n.8924G>T c.7242G>T (p.Leu2414Phe) c.7212G>T (p.Leu2404Phe) c.7164G>T (p.Leu2388Phe) c.7131G>T (p.Leu2377Phe) c.7101G>T (p.Leu2367Phe) c.7098G>T (p.Leu2366Phe) c.7050G>T (p.Leu2350Phe) c.7014G>T (p.Leu2338Phe) c.7011G>T (p.Leu2337Phe) c.6966G>T (p.Leu2322Phe) n.7631G>T | |
X | g.77508498C>G | CA413704365 | ATRX | c.7332G>C (p.Leu2444Phe) c.2430G>C (p.Leu810Phe) c.7218G>C (p.Leu2406Phe) c.*6960G>C (n.*6960G>C) n.5652G>C n.563G>C c.7329G>C (p.Leu2443Phe) c.7245G>C (p.Leu2415Phe) c.7215G>C (p.Leu2405Phe) c.7167G>C (p.Leu2389Phe) c.7128G>C (p.Leu2376Phe) c.7053G>C (p.Leu2351Phe) n.8924G>C c.7242G>C (p.Leu2414Phe) c.7212G>C (p.Leu2404Phe) c.7164G>C (p.Leu2388Phe) c.7131G>C (p.Leu2377Phe) c.7101G>C (p.Leu2367Phe) c.7098G>C (p.Leu2366Phe) c.7050G>C (p.Leu2350Phe) c.7014G>C (p.Leu2338Phe) c.7011G>C (p.Leu2337Phe) c.6966G>C (p.Leu2322Phe) n.7631G>C | dbSNP |
X | g.77508498C>T | CA517374116 | ATRX | c.7332G>A (p.Leu2444=) c.2430G>A (p.Leu810=) c.7218G>A (p.Leu2406=) c.*6960G>A (n.*6960G>A) n.5652G>A n.563G>A c.7329G>A (p.Leu2443=) c.7245G>A (p.Leu2415=) c.7215G>A (p.Leu2405=) c.7167G>A (p.Leu2389=) c.7128G>A (p.Leu2376=) c.7053G>A (p.Leu2351=) n.8924G>A c.7242G>A (p.Leu2414=) c.7212G>A (p.Leu2404=) c.7164G>A (p.Leu2388=) c.7131G>A (p.Leu2377=) c.7101G>A (p.Leu2367=) c.7098G>A (p.Leu2366=) c.7050G>A (p.Leu2350=) c.7014G>A (p.Leu2338=) c.7011G>A (p.Leu2337=) c.6966G>A (p.Leu2322=) n.7631G>A | ClinVar dbSNP gnomAD v4 |
X | g.77508499A>C | CA413704378 | ATRX | c.7331T>G (p.Leu2444Trp) c.2429T>G (p.Leu810Trp) c.7217T>G (p.Leu2406Trp) c.*6959T>G (n.*6959T>G) n.5651T>G n.562T>G c.7328T>G (p.Leu2443Trp) c.7244T>G (p.Leu2415Trp) c.7214T>G (p.Leu2405Trp) c.7166T>G (p.Leu2389Trp) c.7127T>G (p.Leu2376Trp) c.7052T>G (p.Leu2351Trp) n.8923T>G c.7241T>G (p.Leu2414Trp) c.7211T>G (p.Leu2404Trp) c.7163T>G (p.Leu2388Trp) c.7130T>G (p.Leu2377Trp) c.7100T>G (p.Leu2367Trp) c.7097T>G (p.Leu2366Trp) c.7049T>G (p.Leu2350Trp) c.7013T>G (p.Leu2338Trp) c.7010T>G (p.Leu2337Trp) c.6965T>G (p.Leu2322Trp) n.7630T>G | |
X | g.77508499A>G | CA413704368 | ATRX | c.7331T>C (p.Leu2444Ser) c.2429T>C (p.Leu810Ser) c.7217T>C (p.Leu2406Ser) c.*6959T>C (n.*6959T>C) n.5651T>C n.562T>C c.7328T>C (p.Leu2443Ser) c.7244T>C (p.Leu2415Ser) c.7214T>C (p.Leu2405Ser) c.7166T>C (p.Leu2389Ser) c.7127T>C (p.Leu2376Ser) c.7052T>C (p.Leu2351Ser) n.8923T>C c.7241T>C (p.Leu2414Ser) c.7211T>C (p.Leu2404Ser) c.7163T>C (p.Leu2388Ser) c.7130T>C (p.Leu2377Ser) c.7100T>C (p.Leu2367Ser) c.7097T>C (p.Leu2366Ser) c.7049T>C (p.Leu2350Ser) c.7013T>C (p.Leu2338Ser) c.7010T>C (p.Leu2337Ser) c.6965T>C (p.Leu2322Ser) n.7630T>C | |
X | g.77508499A>T | CA413704372 | ATRX | c.7331T>A (p.Leu2444Ter) c.2429T>A (p.Leu810Ter) c.7217T>A (p.Leu2406Ter) c.*6959T>A (n.*6959T>A) n.5651T>A n.562T>A c.7328T>A (p.Leu2443Ter) c.7244T>A (p.Leu2415Ter) c.7214T>A (p.Leu2405Ter) c.7166T>A (p.Leu2389Ter) c.7127T>A (p.Leu2376Ter) c.7052T>A (p.Leu2351Ter) n.8923T>A c.7241T>A (p.Leu2414Ter) c.7211T>A (p.Leu2404Ter) c.7163T>A (p.Leu2388Ter) c.7130T>A (p.Leu2377Ter) c.7100T>A (p.Leu2367Ter) c.7097T>A (p.Leu2366Ter) c.7049T>A (p.Leu2350Ter) c.7013T>A (p.Leu2338Ter) c.7010T>A (p.Leu2337Ter) c.6965T>A (p.Leu2322Ter) n.7630T>A | |
X | g.77508500A>C | CA413704382 | ATRX | c.7330T>G (p.Leu2444Val) c.2428T>G (p.Leu810Val) c.7216T>G (p.Leu2406Val) c.*6958T>G (n.*6958T>G) n.5650T>G n.561T>G c.7327T>G (p.Leu2443Val) c.7243T>G (p.Leu2415Val) c.7213T>G (p.Leu2405Val) c.7165T>G (p.Leu2389Val) c.7126T>G (p.Leu2376Val) c.7051T>G (p.Leu2351Val) n.8922T>G c.7240T>G (p.Leu2414Val) c.7210T>G (p.Leu2404Val) c.7162T>G (p.Leu2388Val) c.7129T>G (p.Leu2377Val) c.7099T>G (p.Leu2367Val) c.7096T>G (p.Leu2366Val) c.7048T>G (p.Leu2350Val) c.7012T>G (p.Leu2338Val) c.7009T>G (p.Leu2337Val) c.6964T>G (p.Leu2322Val) n.7629T>G | |
X | g.77508500A>G | CA517374118 | ATRX | c.7330T>C (p.Leu2444=) c.2428T>C (p.Leu810=) c.7216T>C (p.Leu2406=) c.*6958T>C (n.*6958T>C) n.5650T>C n.561T>C c.7327T>C (p.Leu2443=) c.7243T>C (p.Leu2415=) c.7213T>C (p.Leu2405=) c.7165T>C (p.Leu2389=) c.7126T>C (p.Leu2376=) c.7051T>C (p.Leu2351=) n.8922T>C c.7240T>C (p.Leu2414=) c.7210T>C (p.Leu2404=) c.7162T>C (p.Leu2388=) c.7129T>C (p.Leu2377=) c.7099T>C (p.Leu2367=) c.7096T>C (p.Leu2366=) c.7048T>C (p.Leu2350=) c.7012T>C (p.Leu2338=) c.7009T>C (p.Leu2337=) c.6964T>C (p.Leu2322=) n.7629T>C | |
X | g.77508500A>T | CA413704385 | ATRX | c.7330T>A (p.Leu2444Met) c.2428T>A (p.Leu810Met) c.7216T>A (p.Leu2406Met) c.*6958T>A (n.*6958T>A) n.5650T>A n.561T>A c.7327T>A (p.Leu2443Met) c.7243T>A (p.Leu2415Met) c.7213T>A (p.Leu2405Met) c.7165T>A (p.Leu2389Met) c.7126T>A (p.Leu2376Met) c.7051T>A (p.Leu2351Met) n.8922T>A c.7240T>A (p.Leu2414Met) c.7210T>A (p.Leu2404Met) c.7162T>A (p.Leu2388Met) c.7129T>A (p.Leu2377Met) c.7099T>A (p.Leu2367Met) c.7096T>A (p.Leu2366Met) c.7048T>A (p.Leu2350Met) c.7012T>A (p.Leu2338Met) c.7009T>A (p.Leu2337Met) c.6964T>A (p.Leu2322Met) n.7629T>A | |
X | g.77508501A>C | CA413704389 | ATRX | c.7329T>G (p.Asn2443Lys) c.2427T>G (p.Asn809Lys) c.7215T>G (p.Asn2405Lys) c.*6957T>G (n.*6957T>G) n.5649T>G n.560T>G c.7326T>G (p.Asn2442Lys) c.7242T>G (p.Asn2414Lys) c.7212T>G (p.Asn2404Lys) c.7164T>G (p.Asn2388Lys) c.7125T>G (p.Asn2375Lys) c.7050T>G (p.Asn2350Lys) n.8921T>G c.7239T>G (p.Asn2413Lys) c.7209T>G (p.Asn2403Lys) c.7161T>G (p.Asn2387Lys) c.7128T>G (p.Asn2376Lys) c.7098T>G (p.Asn2366Lys) c.7095T>G (p.Asn2365Lys) c.7047T>G (p.Asn2349Lys) c.7011T>G (p.Asn2337Lys) c.7008T>G (p.Asn2336Lys) c.6963T>G (p.Asn2321Lys) n.7628T>G | |
X | g.77508501A>G | CA517374119 | ATRX | c.7329T>C (p.Asn2443=) c.2427T>C (p.Asn809=) c.7215T>C (p.Asn2405=) c.*6957T>C (n.*6957T>C) n.5649T>C n.560T>C c.7326T>C (p.Asn2442=) c.7242T>C (p.Asn2414=) c.7212T>C (p.Asn2404=) c.7164T>C (p.Asn2388=) c.7125T>C (p.Asn2375=) c.7050T>C (p.Asn2350=) n.8921T>C c.7239T>C (p.Asn2413=) c.7209T>C (p.Asn2403=) c.7161T>C (p.Asn2387=) c.7128T>C (p.Asn2376=) c.7098T>C (p.Asn2366=) c.7095T>C (p.Asn2365=) c.7047T>C (p.Asn2349=) c.7011T>C (p.Asn2337=) c.7008T>C (p.Asn2336=) c.6963T>C (p.Asn2321=) n.7628T>C | |
X | g.77508501A>T | CA413704391 | ATRX | c.7329T>A (p.Asn2443Lys) c.2427T>A (p.Asn809Lys) c.7215T>A (p.Asn2405Lys) c.*6957T>A (n.*6957T>A) n.5649T>A n.560T>A c.7326T>A (p.Asn2442Lys) c.7242T>A (p.Asn2414Lys) c.7212T>A (p.Asn2404Lys) c.7164T>A (p.Asn2388Lys) c.7125T>A (p.Asn2375Lys) c.7050T>A (p.Asn2350Lys) n.8921T>A c.7239T>A (p.Asn2413Lys) c.7209T>A (p.Asn2403Lys) c.7161T>A (p.Asn2387Lys) c.7128T>A (p.Asn2376Lys) c.7098T>A (p.Asn2366Lys) c.7095T>A (p.Asn2365Lys) c.7047T>A (p.Asn2349Lys) c.7011T>A (p.Asn2337Lys) c.7008T>A (p.Asn2336Lys) c.6963T>A (p.Asn2321Lys) n.7628T>A | |
X | g.77508502T>A | CA413704397 | ATRX | c.7328A>T (p.Asn2443Ile) c.2426A>T (p.Asn809Ile) c.7214A>T (p.Asn2405Ile) c.*6956A>T (n.*6956A>T) n.5648A>T n.559A>T c.7325A>T (p.Asn2442Ile) c.7241A>T (p.Asn2414Ile) c.7211A>T (p.Asn2404Ile) c.7163A>T (p.Asn2388Ile) c.7124A>T (p.Asn2375Ile) c.7049A>T (p.Asn2350Ile) n.8920A>T c.7238A>T (p.Asn2413Ile) c.7208A>T (p.Asn2403Ile) c.7160A>T (p.Asn2387Ile) c.7127A>T (p.Asn2376Ile) c.7097A>T (p.Asn2366Ile) c.7094A>T (p.Asn2365Ile) c.7046A>T (p.Asn2349Ile) c.7010A>T (p.Asn2337Ile) c.7007A>T (p.Asn2336Ile) c.6962A>T (p.Asn2321Ile) n.7627A>T | dbSNP |
X | g.77508502T>C | CA413704399 | ATRX | c.7328A>G (p.Asn2443Ser) c.2426A>G (p.Asn809Ser) c.7214A>G (p.Asn2405Ser) c.*6956A>G (n.*6956A>G) n.5648A>G n.559A>G c.7325A>G (p.Asn2442Ser) c.7241A>G (p.Asn2414Ser) c.7211A>G (p.Asn2404Ser) c.7163A>G (p.Asn2388Ser) c.7124A>G (p.Asn2375Ser) c.7049A>G (p.Asn2350Ser) n.8920A>G c.7238A>G (p.Asn2413Ser) c.7208A>G (p.Asn2403Ser) c.7160A>G (p.Asn2387Ser) c.7127A>G (p.Asn2376Ser) c.7097A>G (p.Asn2366Ser) c.7094A>G (p.Asn2365Ser) c.7046A>G (p.Asn2349Ser) c.7010A>G (p.Asn2337Ser) c.7007A>G (p.Asn2336Ser) c.6962A>G (p.Asn2321Ser) n.7627A>G | |
X | g.77508502T>G | CA413704403 | ATRX | c.7328A>C (p.Asn2443Thr) c.2426A>C (p.Asn809Thr) c.7214A>C (p.Asn2405Thr) c.*6956A>C (n.*6956A>C) n.5648A>C n.559A>C c.7325A>C (p.Asn2442Thr) c.7241A>C (p.Asn2414Thr) c.7211A>C (p.Asn2404Thr) c.7163A>C (p.Asn2388Thr) c.7124A>C (p.Asn2375Thr) c.7049A>C (p.Asn2350Thr) n.8920A>C c.7238A>C (p.Asn2413Thr) c.7208A>C (p.Asn2403Thr) c.7160A>C (p.Asn2387Thr) c.7127A>C (p.Asn2376Thr) c.7097A>C (p.Asn2366Thr) c.7094A>C (p.Asn2365Thr) c.7046A>C (p.Asn2349Thr) c.7010A>C (p.Asn2337Thr) c.7007A>C (p.Asn2336Thr) c.6962A>C (p.Asn2321Thr) n.7627A>C | |
X | g.77508504dup | CA2738724265 | ATRX | c.7328dup (p.Asn2443LysfsTer8) c.2426dup (p.Asn809LysfsTer8) c.7214dup (p.Asn2405LysfsTer8) c.*6956dup (n.*6956dup) n.5648dup n.559dup c.7325dup (p.Asn2442LysfsTer8) c.7241dup (p.Asn2414LysfsTer8) c.7211dup (p.Asn2404LysfsTer8) c.7163dup (p.Asn2388LysfsTer8) c.7124dup (p.Asn2375LysfsTer8) c.7049dup (p.Asn2350LysfsTer8) n.8920dup c.7238dup (p.Asn2413LysfsTer8) c.7208dup (p.Asn2403LysfsTer8) c.7160dup (p.Asn2387LysfsTer8) c.7127dup (p.Asn2376LysfsTer8) c.7097dup (p.Asn2366LysfsTer8) c.7094dup (p.Asn2365LysfsTer8) c.7046dup (p.Asn2349LysfsTer8) c.7010dup (p.Asn2337LysfsTer8) c.7007dup (p.Asn2336LysfsTer8) c.6962dup (p.Asn2321LysfsTer8) n.7627dup | dbSNP |
X | g.77508503T>A | CA413704406 | ATRX | c.7327A>T (p.Asn2443Tyr) c.2425A>T (p.Asn809Tyr) c.7213A>T (p.Asn2405Tyr) c.*6955A>T (n.*6955A>T) n.5647A>T n.558A>T c.7324A>T (p.Asn2442Tyr) c.7240A>T (p.Asn2414Tyr) c.7210A>T (p.Asn2404Tyr) c.7162A>T (p.Asn2388Tyr) c.7123A>T (p.Asn2375Tyr) c.7048A>T (p.Asn2350Tyr) n.8919A>T c.7237A>T (p.Asn2413Tyr) c.7207A>T (p.Asn2403Tyr) c.7159A>T (p.Asn2387Tyr) c.7126A>T (p.Asn2376Tyr) c.7096A>T (p.Asn2366Tyr) c.7093A>T (p.Asn2365Tyr) c.7045A>T (p.Asn2349Tyr) c.7009A>T (p.Asn2337Tyr) c.7006A>T (p.Asn2336Tyr) c.6961A>T (p.Asn2321Tyr) n.7626A>T | |
X | g.77508503T>C | CA331560035 | ATRX | c.7327A>G (p.Asn2443Asp) c.2425A>G (p.Asn809Asp) c.7213A>G (p.Asn2405Asp) c.*6955A>G (n.*6955A>G) n.5647A>G n.558A>G c.7324A>G (p.Asn2442Asp) c.7240A>G (p.Asn2414Asp) c.7210A>G (p.Asn2404Asp) c.7162A>G (p.Asn2388Asp) c.7123A>G (p.Asn2375Asp) c.7048A>G (p.Asn2350Asp) n.8919A>G c.7237A>G (p.Asn2413Asp) c.7207A>G (p.Asn2403Asp) c.7159A>G (p.Asn2387Asp) c.7126A>G (p.Asn2376Asp) c.7096A>G (p.Asn2366Asp) c.7093A>G (p.Asn2365Asp) c.7045A>G (p.Asn2349Asp) c.7009A>G (p.Asn2337Asp) c.7006A>G (p.Asn2336Asp) c.6961A>G (p.Asn2321Asp) n.7626A>G | dbSNP COSMIC |
X | g.77508503T>G | CA413704413 | ATRX | c.7327A>C (p.Asn2443His) c.2425A>C (p.Asn809His) c.7213A>C (p.Asn2405His) c.*6955A>C (n.*6955A>C) n.5647A>C n.558A>C c.7324A>C (p.Asn2442His) c.7240A>C (p.Asn2414His) c.7210A>C (p.Asn2404His) c.7162A>C (p.Asn2388His) c.7123A>C (p.Asn2375His) c.7048A>C (p.Asn2350His) n.8919A>C c.7237A>C (p.Asn2413His) c.7207A>C (p.Asn2403His) c.7159A>C (p.Asn2387His) c.7126A>C (p.Asn2376His) c.7096A>C (p.Asn2366His) c.7093A>C (p.Asn2365His) c.7045A>C (p.Asn2349His) c.7009A>C (p.Asn2337His) c.7006A>C (p.Asn2336His) c.6961A>C (p.Asn2321His) n.7626A>C | |
X | g.77508503T= | CA2438929055 | ATRX | c.7327A= (p.Asn2443=) c.2425A= (p.Asn809=) c.7213A= (p.Asn2405=) c.*6955A= (n.*6955A=) n.5647A= n.558A= c.7324A= (p.Asn2442=) c.7240A= (p.Asn2414=) c.7210A= (p.Asn2404=) c.7162A= (p.Asn2388=) c.7123A= (p.Asn2375=) c.7048A= (p.Asn2350=) n.8919A= c.7237A= (p.Asn2413=) c.7207A= (p.Asn2403=) c.7159A= (p.Asn2387=) c.7126A= (p.Asn2376=) c.7096A= (p.Asn2366=) c.7093A= (p.Asn2365=) c.7045A= (p.Asn2349=) c.7009A= (p.Asn2337=) c.7006A= (p.Asn2336=) c.6961A= (p.Asn2321=) n.7626A= | |
X | g.77508504T>A | CA517374121 | ATRX | c.7326A>T (p.Pro2442=) c.2424A>T (p.Pro808=) c.7212A>T (p.Pro2404=) c.*6954A>T (n.*6954A>T) n.5646A>T n.557A>T c.7323A>T (p.Pro2441=) c.7239A>T (p.Pro2413=) c.7209A>T (p.Pro2403=) c.7161A>T (p.Pro2387=) c.7122A>T (p.Pro2374=) c.7047A>T (p.Pro2349=) n.8918A>T c.7236A>T (p.Pro2412=) c.7206A>T (p.Pro2402=) c.7158A>T (p.Pro2386=) c.7125A>T (p.Pro2375=) c.7095A>T (p.Pro2365=) c.7092A>T (p.Pro2364=) c.7044A>T (p.Pro2348=) c.7008A>T (p.Pro2336=) c.7005A>T (p.Pro2335=) c.6960A>T (p.Pro2320=) n.7625A>T | |
X | g.77508504T>C | CA10457395 | ATRX | c.7326A>G (p.Pro2442=) c.2424A>G (p.Pro808=) c.7212A>G (p.Pro2404=) c.*6954A>G (n.*6954A>G) n.5646A>G n.557A>G c.7323A>G (p.Pro2441=) c.7239A>G (p.Pro2413=) c.7209A>G (p.Pro2403=) c.7161A>G (p.Pro2387=) c.7122A>G (p.Pro2374=) c.7047A>G (p.Pro2349=) n.8918A>G c.7236A>G (p.Pro2412=) c.7206A>G (p.Pro2402=) c.7158A>G (p.Pro2386=) c.7125A>G (p.Pro2375=) c.7095A>G (p.Pro2365=) c.7092A>G (p.Pro2364=) c.7044A>G (p.Pro2348=) c.7008A>G (p.Pro2336=) c.7005A>G (p.Pro2335=) c.6960A>G (p.Pro2320=) n.7625A>G | dbSNP ExAC gnomAD v2 |
X | g.77508504T>G | CA517374122 | ATRX | c.7326A>C (p.Pro2442=) c.2424A>C (p.Pro808=) c.7212A>C (p.Pro2404=) c.*6954A>C (n.*6954A>C) n.5646A>C n.557A>C c.7323A>C (p.Pro2441=) c.7239A>C (p.Pro2413=) c.7209A>C (p.Pro2403=) c.7161A>C (p.Pro2387=) c.7122A>C (p.Pro2374=) c.7047A>C (p.Pro2349=) n.8918A>C c.7236A>C (p.Pro2412=) c.7206A>C (p.Pro2402=) c.7158A>C (p.Pro2386=) c.7125A>C (p.Pro2375=) c.7095A>C (p.Pro2365=) c.7092A>C (p.Pro2364=) c.7044A>C (p.Pro2348=) c.7008A>C (p.Pro2336=) c.7005A>C (p.Pro2335=) c.6960A>C (p.Pro2320=) n.7625A>C | |
X | g.77508504T= | CA2438929056 | ATRX | c.7326A= (p.Pro2442=) c.2424A= (p.Pro808=) c.7212A= (p.Pro2404=) c.*6954A= (n.*6954A=) n.5646A= n.557A= c.7323A= (p.Pro2441=) c.7239A= (p.Pro2413=) c.7209A= (p.Pro2403=) c.7161A= (p.Pro2387=) c.7122A= (p.Pro2374=) c.7047A= (p.Pro2349=) n.8918A= c.7236A= (p.Pro2412=) c.7206A= (p.Pro2402=) c.7158A= (p.Pro2386=) c.7125A= (p.Pro2375=) c.7095A= (p.Pro2365=) c.7092A= (p.Pro2364=) c.7044A= (p.Pro2348=) c.7008A= (p.Pro2336=) c.7005A= (p.Pro2335=) c.6960A= (p.Pro2320=) n.7625A= | |
X | g.77508505G>A | CA413704421 | ATRX | c.7325C>T (p.Pro2442Leu) c.2423C>T (p.Pro808Leu) c.7211C>T (p.Pro2404Leu) c.*6953C>T (n.*6953C>T) n.5645C>T n.556C>T c.7322C>T (p.Pro2441Leu) c.7238C>T (p.Pro2413Leu) c.7208C>T (p.Pro2403Leu) c.7160C>T (p.Pro2387Leu) c.7121C>T (p.Pro2374Leu) c.7046C>T (p.Pro2349Leu) n.8917C>T c.7235C>T (p.Pro2412Leu) c.7205C>T (p.Pro2402Leu) c.7157C>T (p.Pro2386Leu) c.7124C>T (p.Pro2375Leu) c.7094C>T (p.Pro2365Leu) c.7091C>T (p.Pro2364Leu) c.7043C>T (p.Pro2348Leu) c.7007C>T (p.Pro2336Leu) c.7004C>T (p.Pro2335Leu) c.6959C>T (p.Pro2320Leu) n.7624C>T | dbSNP |
X | g.77508505G>C | CA413704427 | ATRX | c.7325C>G (p.Pro2442Arg) c.2423C>G (p.Pro808Arg) c.7211C>G (p.Pro2404Arg) c.*6953C>G (n.*6953C>G) n.5645C>G n.556C>G c.7322C>G (p.Pro2441Arg) c.7238C>G (p.Pro2413Arg) c.7208C>G (p.Pro2403Arg) c.7160C>G (p.Pro2387Arg) c.7121C>G (p.Pro2374Arg) c.7046C>G (p.Pro2349Arg) n.8917C>G c.7235C>G (p.Pro2412Arg) c.7205C>G (p.Pro2402Arg) c.7157C>G (p.Pro2386Arg) c.7124C>G (p.Pro2375Arg) c.7094C>G (p.Pro2365Arg) c.7091C>G (p.Pro2364Arg) c.7043C>G (p.Pro2348Arg) c.7007C>G (p.Pro2336Arg) c.7004C>G (p.Pro2335Arg) c.6959C>G (p.Pro2320Arg) n.7624C>G | dbSNP |
X | g.77508505G>T | CA413704424 | ATRX | c.7325C>A (p.Pro2442Gln) c.2423C>A (p.Pro808Gln) c.7211C>A (p.Pro2404Gln) c.*6953C>A (n.*6953C>A) n.5645C>A n.556C>A c.7322C>A (p.Pro2441Gln) c.7238C>A (p.Pro2413Gln) c.7208C>A (p.Pro2403Gln) c.7160C>A (p.Pro2387Gln) c.7121C>A (p.Pro2374Gln) c.7046C>A (p.Pro2349Gln) n.8917C>A c.7235C>A (p.Pro2412Gln) c.7205C>A (p.Pro2402Gln) c.7157C>A (p.Pro2386Gln) c.7124C>A (p.Pro2375Gln) c.7094C>A (p.Pro2365Gln) c.7091C>A (p.Pro2364Gln) c.7043C>A (p.Pro2348Gln) c.7007C>A (p.Pro2336Gln) c.7004C>A (p.Pro2335Gln) c.6959C>A (p.Pro2320Gln) n.7624C>A | gnomAD v4 |
X | g.77508506G>A | CA413704432 | ATRX | c.7324C>T (p.Pro2442Ser) c.2422C>T (p.Pro808Ser) c.7210C>T (p.Pro2404Ser) c.*6952C>T (n.*6952C>T) n.5644C>T n.555C>T c.7321C>T (p.Pro2441Ser) c.7237C>T (p.Pro2413Ser) c.7207C>T (p.Pro2403Ser) c.7159C>T (p.Pro2387Ser) c.7120C>T (p.Pro2374Ser) c.7045C>T (p.Pro2349Ser) n.8916C>T c.7234C>T (p.Pro2412Ser) c.7204C>T (p.Pro2402Ser) c.7156C>T (p.Pro2386Ser) c.7123C>T (p.Pro2375Ser) c.7093C>T (p.Pro2365Ser) c.7090C>T (p.Pro2364Ser) c.7042C>T (p.Pro2348Ser) c.7006C>T (p.Pro2336Ser) c.7003C>T (p.Pro2335Ser) c.6958C>T (p.Pro2320Ser) n.7623C>T | dbSNP |
X | g.77508506G>C | CA413704437 | ATRX | c.7324C>G (p.Pro2442Ala) c.2422C>G (p.Pro808Ala) c.7210C>G (p.Pro2404Ala) c.*6952C>G (n.*6952C>G) n.5644C>G n.555C>G c.7321C>G (p.Pro2441Ala) c.7237C>G (p.Pro2413Ala) c.7207C>G (p.Pro2403Ala) c.7159C>G (p.Pro2387Ala) c.7120C>G (p.Pro2374Ala) c.7045C>G (p.Pro2349Ala) n.8916C>G c.7234C>G (p.Pro2412Ala) c.7204C>G (p.Pro2402Ala) c.7156C>G (p.Pro2386Ala) c.7123C>G (p.Pro2375Ala) c.7093C>G (p.Pro2365Ala) c.7090C>G (p.Pro2364Ala) c.7042C>G (p.Pro2348Ala) c.7006C>G (p.Pro2336Ala) c.7003C>G (p.Pro2335Ala) c.6958C>G (p.Pro2320Ala) n.7623C>G | dbSNP |
X | g.77508506G>T | CA413704434 | ATRX | c.7324C>A (p.Pro2442Thr) c.2422C>A (p.Pro808Thr) c.7210C>A (p.Pro2404Thr) c.*6952C>A (n.*6952C>A) n.5644C>A n.555C>A c.7321C>A (p.Pro2441Thr) c.7237C>A (p.Pro2413Thr) c.7207C>A (p.Pro2403Thr) c.7159C>A (p.Pro2387Thr) c.7120C>A (p.Pro2374Thr) c.7045C>A (p.Pro2349Thr) n.8916C>A c.7234C>A (p.Pro2412Thr) c.7204C>A (p.Pro2402Thr) c.7156C>A (p.Pro2386Thr) c.7123C>A (p.Pro2375Thr) c.7093C>A (p.Pro2365Thr) c.7090C>A (p.Pro2364Thr) c.7042C>A (p.Pro2348Thr) c.7006C>A (p.Pro2336Thr) c.7003C>A (p.Pro2335Thr) c.6958C>A (p.Pro2320Thr) n.7623C>A | dbSNP COSMIC COSMIC |
X | g.77508507G>A | CA517374126 | ATRX | c.7323C>T (p.Pro2441=) c.2421C>T (p.Pro807=) c.7209C>T (p.Pro2403=) c.*6951C>T (n.*6951C>T) n.5643C>T n.554C>T c.7320C>T (p.Pro2440=) c.7236C>T (p.Pro2412=) c.7206C>T (p.Pro2402=) c.7158C>T (p.Pro2386=) c.7119C>T (p.Pro2373=) c.7044C>T (p.Pro2348=) n.8915C>T c.7233C>T (p.Pro2411=) c.7203C>T (p.Pro2401=) c.7155C>T (p.Pro2385=) c.7122C>T (p.Pro2374=) c.7092C>T (p.Pro2364=) c.7089C>T (p.Pro2363=) c.7041C>T (p.Pro2347=) c.7005C>T (p.Pro2335=) c.7002C>T (p.Pro2334=) c.6957C>T (p.Pro2319=) n.7622C>T | dbSNP gnomAD v4 |
X | g.77508507G>C | CA517374127 | ATRX | c.7323C>G (p.Pro2441=) c.2421C>G (p.Pro807=) c.7209C>G (p.Pro2403=) c.*6951C>G (n.*6951C>G) n.5643C>G n.554C>G c.7320C>G (p.Pro2440=) c.7236C>G (p.Pro2412=) c.7206C>G (p.Pro2402=) c.7158C>G (p.Pro2386=) c.7119C>G (p.Pro2373=) c.7044C>G (p.Pro2348=) n.8915C>G c.7233C>G (p.Pro2411=) c.7203C>G (p.Pro2401=) c.7155C>G (p.Pro2385=) c.7122C>G (p.Pro2374=) c.7092C>G (p.Pro2364=) c.7089C>G (p.Pro2363=) c.7041C>G (p.Pro2347=) c.7005C>G (p.Pro2335=) c.7002C>G (p.Pro2334=) c.6957C>G (p.Pro2319=) n.7622C>G | |
X | g.77508507G= | CA2438929057 | ATRX | c.7323C= (p.Pro2441=) c.2421C= (p.Pro807=) c.7209C= (p.Pro2403=) c.*6951C= (n.*6951C=) n.5643C= n.554C= c.7320C= (p.Pro2440=) c.7236C= (p.Pro2412=) c.7206C= (p.Pro2402=) c.7158C= (p.Pro2386=) c.7119C= (p.Pro2373=) c.7044C= (p.Pro2348=) n.8915C= c.7233C= (p.Pro2411=) c.7203C= (p.Pro2401=) c.7155C= (p.Pro2385=) c.7122C= (p.Pro2374=) c.7092C= (p.Pro2364=) c.7089C= (p.Pro2363=) c.7041C= (p.Pro2347=) c.7005C= (p.Pro2335=) c.7002C= (p.Pro2334=) c.6957C= (p.Pro2319=) n.7622C= | |
X | g.77508507G>T | CA517374128 | ATRX | c.7323C>A (p.Pro2441=) c.2421C>A (p.Pro807=) c.7209C>A (p.Pro2403=) c.*6951C>A (n.*6951C>A) n.5643C>A n.554C>A c.7320C>A (p.Pro2440=) c.7236C>A (p.Pro2412=) c.7206C>A (p.Pro2402=) c.7158C>A (p.Pro2386=) c.7119C>A (p.Pro2373=) c.7044C>A (p.Pro2348=) n.8915C>A c.7233C>A (p.Pro2411=) c.7203C>A (p.Pro2401=) c.7155C>A (p.Pro2385=) c.7122C>A (p.Pro2374=) c.7092C>A (p.Pro2364=) c.7089C>A (p.Pro2363=) c.7041C>A (p.Pro2347=) c.7005C>A (p.Pro2335=) c.7002C>A (p.Pro2334=) c.6957C>A (p.Pro2319=) n.7622C>A | dbSNP |
X | g.77508508G>A | CA413704441 | ATRX | c.7322C>T (p.Pro2441Leu) c.2420C>T (p.Pro807Leu) c.7208C>T (p.Pro2403Leu) c.*6950C>T (n.*6950C>T) n.5642C>T n.553C>T c.7319C>T (p.Pro2440Leu) c.7235C>T (p.Pro2412Leu) c.7205C>T (p.Pro2402Leu) c.7157C>T (p.Pro2386Leu) c.7118C>T (p.Pro2373Leu) c.7043C>T (p.Pro2348Leu) n.8914C>T c.7232C>T (p.Pro2411Leu) c.7202C>T (p.Pro2401Leu) c.7154C>T (p.Pro2385Leu) c.7121C>T (p.Pro2374Leu) c.7091C>T (p.Pro2364Leu) c.7088C>T (p.Pro2363Leu) c.7040C>T (p.Pro2347Leu) c.7004C>T (p.Pro2335Leu) c.7001C>T (p.Pro2334Leu) c.6956C>T (p.Pro2319Leu) n.7621C>T | dbSNP gnomAD v4 |
X | g.77508508G>C | CA413704447 | ATRX | c.7322C>G (p.Pro2441Arg) c.2420C>G (p.Pro807Arg) c.7208C>G (p.Pro2403Arg) c.*6950C>G (n.*6950C>G) n.5642C>G n.553C>G c.7319C>G (p.Pro2440Arg) c.7235C>G (p.Pro2412Arg) c.7205C>G (p.Pro2402Arg) c.7157C>G (p.Pro2386Arg) c.7118C>G (p.Pro2373Arg) c.7043C>G (p.Pro2348Arg) n.8914C>G c.7232C>G (p.Pro2411Arg) c.7202C>G (p.Pro2401Arg) c.7154C>G (p.Pro2385Arg) c.7121C>G (p.Pro2374Arg) c.7091C>G (p.Pro2364Arg) c.7088C>G (p.Pro2363Arg) c.7040C>G (p.Pro2347Arg) c.7004C>G (p.Pro2335Arg) c.7001C>G (p.Pro2334Arg) c.6956C>G (p.Pro2319Arg) n.7621C>G | dbSNP |
X | g.77508508G>T | CA413704444 | ATRX | c.7322C>A (p.Pro2441His) c.2420C>A (p.Pro807His) c.7208C>A (p.Pro2403His) c.*6950C>A (n.*6950C>A) n.5642C>A n.553C>A c.7319C>A (p.Pro2440His) c.7235C>A (p.Pro2412His) c.7205C>A (p.Pro2402His) c.7157C>A (p.Pro2386His) c.7118C>A (p.Pro2373His) c.7043C>A (p.Pro2348His) n.8914C>A c.7232C>A (p.Pro2411His) c.7202C>A (p.Pro2401His) c.7154C>A (p.Pro2385His) c.7121C>A (p.Pro2374His) c.7091C>A (p.Pro2364His) c.7088C>A (p.Pro2363His) c.7040C>A (p.Pro2347His) c.7004C>A (p.Pro2335His) c.7001C>A (p.Pro2334His) c.6956C>A (p.Pro2319His) n.7621C>A | dbSNP |
X | g.77508509G>A | CA413704451 | ATRX | c.7321C>T (p.Pro2441Ser) c.2419C>T (p.Pro807Ser) c.7207C>T (p.Pro2403Ser) c.*6949C>T (n.*6949C>T) n.5641C>T n.552C>T c.7318C>T (p.Pro2440Ser) c.7234C>T (p.Pro2412Ser) c.7204C>T (p.Pro2402Ser) c.7156C>T (p.Pro2386Ser) c.7117C>T (p.Pro2373Ser) c.7042C>T (p.Pro2348Ser) n.8913C>T c.7231C>T (p.Pro2411Ser) c.7201C>T (p.Pro2401Ser) c.7153C>T (p.Pro2385Ser) c.7120C>T (p.Pro2374Ser) c.7090C>T (p.Pro2364Ser) c.7087C>T (p.Pro2363Ser) c.7039C>T (p.Pro2347Ser) c.7003C>T (p.Pro2335Ser) c.7000C>T (p.Pro2334Ser) c.6955C>T (p.Pro2319Ser) n.7620C>T | dbSNP |
X | g.77508509G>C | CA413704457 | ATRX | c.7321C>G (p.Pro2441Ala) c.2419C>G (p.Pro807Ala) c.7207C>G (p.Pro2403Ala) c.*6949C>G (n.*6949C>G) n.5641C>G n.552C>G c.7318C>G (p.Pro2440Ala) c.7234C>G (p.Pro2412Ala) c.7204C>G (p.Pro2402Ala) c.7156C>G (p.Pro2386Ala) c.7117C>G (p.Pro2373Ala) c.7042C>G (p.Pro2348Ala) n.8913C>G c.7231C>G (p.Pro2411Ala) c.7201C>G (p.Pro2401Ala) c.7153C>G (p.Pro2385Ala) c.7120C>G (p.Pro2374Ala) c.7090C>G (p.Pro2364Ala) c.7087C>G (p.Pro2363Ala) c.7039C>G (p.Pro2347Ala) c.7003C>G (p.Pro2335Ala) c.7000C>G (p.Pro2334Ala) c.6955C>G (p.Pro2319Ala) n.7620C>G | dbSNP |
X | g.77508509G>T | CA413704454 | ATRX | c.7321C>A (p.Pro2441Thr) c.2419C>A (p.Pro807Thr) c.7207C>A (p.Pro2403Thr) c.*6949C>A (n.*6949C>A) n.5641C>A n.552C>A c.7318C>A (p.Pro2440Thr) c.7234C>A (p.Pro2412Thr) c.7204C>A (p.Pro2402Thr) c.7156C>A (p.Pro2386Thr) c.7117C>A (p.Pro2373Thr) c.7042C>A (p.Pro2348Thr) n.8913C>A c.7231C>A (p.Pro2411Thr) c.7201C>A (p.Pro2401Thr) c.7153C>A (p.Pro2385Thr) c.7120C>A (p.Pro2374Thr) c.7090C>A (p.Pro2364Thr) c.7087C>A (p.Pro2363Thr) c.7039C>A (p.Pro2347Thr) c.7003C>A (p.Pro2335Thr) c.7000C>A (p.Pro2334Thr) c.6955C>A (p.Pro2319Thr) n.7620C>A | |
X | g.77508510C>A | CA413704459 | ATRX | c.7320G>T (p.Lys2440Asn) c.2418G>T (p.Lys806Asn) c.7206G>T (p.Lys2402Asn) c.*6948G>T (n.*6948G>T) n.5640G>T n.551G>T c.7317G>T (p.Lys2439Asn) c.7233G>T (p.Lys2411Asn) c.7203G>T (p.Lys2401Asn) c.7155G>T (p.Lys2385Asn) c.7116G>T (p.Lys2372Asn) c.7041G>T (p.Lys2347Asn) n.8912G>T c.7230G>T (p.Lys2410Asn) c.7200G>T (p.Lys2400Asn) c.7152G>T (p.Lys2384Asn) c.7119G>T (p.Lys2373Asn) c.7089G>T (p.Lys2363Asn) c.7086G>T (p.Lys2362Asn) c.7038G>T (p.Lys2346Asn) c.7002G>T (p.Lys2334Asn) c.6999G>T (p.Lys2333Asn) c.6954G>T (p.Lys2318Asn) n.7619G>T | |
X | g.77508510C= | CA2438929058 | ATRX | c.7320G= (p.Lys2440=) c.2418G= (p.Lys806=) c.7206G= (p.Lys2402=) c.*6948G= (n.*6948G=) n.5640G= n.551G= c.7317G= (p.Lys2439=) c.7233G= (p.Lys2411=) c.7203G= (p.Lys2401=) c.7155G= (p.Lys2385=) c.7116G= (p.Lys2372=) c.7041G= (p.Lys2347=) n.8912G= c.7230G= (p.Lys2410=) c.7200G= (p.Lys2400=) c.7152G= (p.Lys2384=) c.7119G= (p.Lys2373=) c.7089G= (p.Lys2363=) c.7086G= (p.Lys2362=) c.7038G= (p.Lys2346=) c.7002G= (p.Lys2334=) c.6999G= (p.Lys2333=) c.6954G= (p.Lys2318=) n.7619G= | |
X | g.77508510C>G | CA413704463 | ATRX | c.7320G>C (p.Lys2440Asn) c.2418G>C (p.Lys806Asn) c.7206G>C (p.Lys2402Asn) c.*6948G>C (n.*6948G>C) n.5640G>C n.551G>C c.7317G>C (p.Lys2439Asn) c.7233G>C (p.Lys2411Asn) c.7203G>C (p.Lys2401Asn) c.7155G>C (p.Lys2385Asn) c.7116G>C (p.Lys2372Asn) c.7041G>C (p.Lys2347Asn) n.8912G>C c.7230G>C (p.Lys2410Asn) c.7200G>C (p.Lys2400Asn) c.7152G>C (p.Lys2384Asn) c.7119G>C (p.Lys2373Asn) c.7089G>C (p.Lys2363Asn) c.7086G>C (p.Lys2362Asn) c.7038G>C (p.Lys2346Asn) c.7002G>C (p.Lys2334Asn) c.6999G>C (p.Lys2333Asn) c.6954G>C (p.Lys2318Asn) n.7619G>C | dbSNP |
X | g.77508510C>T | CA10457396 | ATRX | c.7320G>A (p.Lys2440=) c.2418G>A (p.Lys806=) c.7206G>A (p.Lys2402=) c.*6948G>A (n.*6948G>A) n.5640G>A n.551G>A c.7317G>A (p.Lys2439=) c.7233G>A (p.Lys2411=) c.7203G>A (p.Lys2401=) c.7155G>A (p.Lys2385=) c.7116G>A (p.Lys2372=) c.7041G>A (p.Lys2347=) n.8912G>A c.7230G>A (p.Lys2410=) c.7200G>A (p.Lys2400=) c.7152G>A (p.Lys2384=) c.7119G>A (p.Lys2373=) c.7089G>A (p.Lys2363=) c.7086G>A (p.Lys2362=) c.7038G>A (p.Lys2346=) c.7002G>A (p.Lys2334=) c.6999G>A (p.Lys2333=) c.6954G>A (p.Lys2318=) n.7619G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.77508511T>A | CA413704470 | ATRX | c.7319A>T (p.Lys2440Met) c.2417A>T (p.Lys806Met) c.7205A>T (p.Lys2402Met) c.*6947A>T (n.*6947A>T) n.5639A>T n.550A>T c.7316A>T (p.Lys2439Met) c.7232A>T (p.Lys2411Met) c.7202A>T (p.Lys2401Met) c.7154A>T (p.Lys2385Met) c.7115A>T (p.Lys2372Met) c.7040A>T (p.Lys2347Met) n.8911A>T c.7229A>T (p.Lys2410Met) c.7199A>T (p.Lys2400Met) c.7151A>T (p.Lys2384Met) c.7118A>T (p.Lys2373Met) c.7088A>T (p.Lys2363Met) c.7085A>T (p.Lys2362Met) c.7037A>T (p.Lys2346Met) c.7001A>T (p.Lys2334Met) c.6998A>T (p.Lys2333Met) c.6953A>T (p.Lys2318Met) n.7618A>T | dbSNP |
X | g.77508511T>C | CA413704473 | ATRX | c.7319A>G (p.Lys2440Arg) c.2417A>G (p.Lys806Arg) c.7205A>G (p.Lys2402Arg) c.*6947A>G (n.*6947A>G) n.5639A>G n.550A>G c.7316A>G (p.Lys2439Arg) c.7232A>G (p.Lys2411Arg) c.7202A>G (p.Lys2401Arg) c.7154A>G (p.Lys2385Arg) c.7115A>G (p.Lys2372Arg) c.7040A>G (p.Lys2347Arg) n.8911A>G c.7229A>G (p.Lys2410Arg) c.7199A>G (p.Lys2400Arg) c.7151A>G (p.Lys2384Arg) c.7118A>G (p.Lys2373Arg) c.7088A>G (p.Lys2363Arg) c.7085A>G (p.Lys2362Arg) c.7037A>G (p.Lys2346Arg) c.7001A>G (p.Lys2334Arg) c.6998A>G (p.Lys2333Arg) c.6953A>G (p.Lys2318Arg) n.7618A>G | |
X | g.77508511T>G | CA413704476 | ATRX | c.7319A>C (p.Lys2440Thr) c.2417A>C (p.Lys806Thr) c.7205A>C (p.Lys2402Thr) c.*6947A>C (n.*6947A>C) n.5639A>C n.550A>C c.7316A>C (p.Lys2439Thr) c.7232A>C (p.Lys2411Thr) c.7202A>C (p.Lys2401Thr) c.7154A>C (p.Lys2385Thr) c.7115A>C (p.Lys2372Thr) c.7040A>C (p.Lys2347Thr) n.8911A>C c.7229A>C (p.Lys2410Thr) c.7199A>C (p.Lys2400Thr) c.7151A>C (p.Lys2384Thr) c.7118A>C (p.Lys2373Thr) c.7088A>C (p.Lys2363Thr) c.7085A>C (p.Lys2362Thr) c.7037A>C (p.Lys2346Thr) c.7001A>C (p.Lys2334Thr) c.6998A>C (p.Lys2333Thr) c.6953A>C (p.Lys2318Thr) n.7618A>C | dbSNP |
X | g.77508512T>A | CA413704486 | ATRX | c.7318A>T (p.Lys2440Ter) c.2416A>T (p.Lys806Ter) c.7204A>T (p.Lys2402Ter) c.*6946A>T (n.*6946A>T) n.5638A>T n.549A>T c.7315A>T (p.Lys2439Ter) c.7231A>T (p.Lys2411Ter) c.7201A>T (p.Lys2401Ter) c.7153A>T (p.Lys2385Ter) c.7114A>T (p.Lys2372Ter) c.7039A>T (p.Lys2347Ter) n.8910A>T c.7228A>T (p.Lys2410Ter) c.7198A>T (p.Lys2400Ter) c.7150A>T (p.Lys2384Ter) c.7117A>T (p.Lys2373Ter) c.7087A>T (p.Lys2363Ter) c.7084A>T (p.Lys2362Ter) c.7036A>T (p.Lys2346Ter) c.7000A>T (p.Lys2334Ter) c.6997A>T (p.Lys2333Ter) c.6952A>T (p.Lys2318Ter) n.7617A>T | |
X | g.77508512T>C | CA413704491 | ATRX | c.7318A>G (p.Lys2440Glu) c.2416A>G (p.Lys806Glu) c.7204A>G (p.Lys2402Glu) c.*6946A>G (n.*6946A>G) n.5638A>G n.549A>G c.7315A>G (p.Lys2439Glu) c.7231A>G (p.Lys2411Glu) c.7201A>G (p.Lys2401Glu) c.7153A>G (p.Lys2385Glu) c.7114A>G (p.Lys2372Glu) c.7039A>G (p.Lys2347Glu) n.8910A>G c.7228A>G (p.Lys2410Glu) c.7198A>G (p.Lys2400Glu) c.7150A>G (p.Lys2384Glu) c.7117A>G (p.Lys2373Glu) c.7087A>G (p.Lys2363Glu) c.7084A>G (p.Lys2362Glu) c.7036A>G (p.Lys2346Glu) c.7000A>G (p.Lys2334Glu) c.6997A>G (p.Lys2333Glu) c.6952A>G (p.Lys2318Glu) n.7617A>G | dbSNP |
X | g.77508512T>G | CA413704495 | ATRX | c.7318A>C (p.Lys2440Gln) c.2416A>C (p.Lys806Gln) c.7204A>C (p.Lys2402Gln) c.*6946A>C (n.*6946A>C) n.5638A>C n.549A>C c.7315A>C (p.Lys2439Gln) c.7231A>C (p.Lys2411Gln) c.7201A>C (p.Lys2401Gln) c.7153A>C (p.Lys2385Gln) c.7114A>C (p.Lys2372Gln) c.7039A>C (p.Lys2347Gln) n.8910A>C c.7228A>C (p.Lys2410Gln) c.7198A>C (p.Lys2400Gln) c.7150A>C (p.Lys2384Gln) c.7117A>C (p.Lys2373Gln) c.7087A>C (p.Lys2363Gln) c.7084A>C (p.Lys2362Gln) c.7036A>C (p.Lys2346Gln) c.7000A>C (p.Lys2334Gln) c.6997A>C (p.Lys2333Gln) c.6952A>C (p.Lys2318Gln) n.7617A>C | gnomAD v4 |
X | g.77508513T>A | CA517374132 | ATRX | c.7317A>T (p.Pro2439=) c.2415A>T (p.Pro805=) c.7203A>T (p.Pro2401=) c.*6945A>T (n.*6945A>T) n.5637A>T n.548A>T c.7314A>T (p.Pro2438=) c.7230A>T (p.Pro2410=) c.7200A>T (p.Pro2400=) c.7152A>T (p.Pro2384=) c.7113A>T (p.Pro2371=) c.7038A>T (p.Pro2346=) n.8909A>T c.7227A>T (p.Pro2409=) c.7197A>T (p.Pro2399=) c.7149A>T (p.Pro2383=) c.7116A>T (p.Pro2372=) c.7086A>T (p.Pro2362=) c.7083A>T (p.Pro2361=) c.7035A>T (p.Pro2345=) c.6999A>T (p.Pro2333=) c.6996A>T (p.Pro2332=) c.6951A>T (p.Pro2317=) n.7616A>T | |
X | g.77508513T>C | CA517374133 | ATRX | c.7317A>G (p.Pro2439=) c.2415A>G (p.Pro805=) c.7203A>G (p.Pro2401=) c.*6945A>G (n.*6945A>G) n.5637A>G n.548A>G c.7314A>G (p.Pro2438=) c.7230A>G (p.Pro2410=) c.7200A>G (p.Pro2400=) c.7152A>G (p.Pro2384=) c.7113A>G (p.Pro2371=) c.7038A>G (p.Pro2346=) n.8909A>G c.7227A>G (p.Pro2409=) c.7197A>G (p.Pro2399=) c.7149A>G (p.Pro2383=) c.7116A>G (p.Pro2372=) c.7086A>G (p.Pro2362=) c.7083A>G (p.Pro2361=) c.7035A>G (p.Pro2345=) c.6999A>G (p.Pro2333=) c.6996A>G (p.Pro2332=) c.6951A>G (p.Pro2317=) n.7616A>G | |
X | g.77508513T>G | CA517374134 | ATRX | c.7317A>C (p.Pro2439=) c.2415A>C (p.Pro805=) c.7203A>C (p.Pro2401=) c.*6945A>C (n.*6945A>C) n.5637A>C n.548A>C c.7314A>C (p.Pro2438=) c.7230A>C (p.Pro2410=) c.7200A>C (p.Pro2400=) c.7152A>C (p.Pro2384=) c.7113A>C (p.Pro2371=) c.7038A>C (p.Pro2346=) n.8909A>C c.7227A>C (p.Pro2409=) c.7197A>C (p.Pro2399=) c.7149A>C (p.Pro2383=) c.7116A>C (p.Pro2372=) c.7086A>C (p.Pro2362=) c.7083A>C (p.Pro2361=) c.7035A>C (p.Pro2345=) c.6999A>C (p.Pro2333=) c.6996A>C (p.Pro2332=) c.6951A>C (p.Pro2317=) n.7616A>C | |
X | g.77508514G>A | CA413704500 | ATRX | c.7316C>T (p.Pro2439Leu) c.2414C>T (p.Pro805Leu) c.7202C>T (p.Pro2401Leu) c.*6944C>T (n.*6944C>T) n.5636C>T n.547C>T c.7313C>T (p.Pro2438Leu) c.7229C>T (p.Pro2410Leu) c.7199C>T (p.Pro2400Leu) c.7151C>T (p.Pro2384Leu) c.7112C>T (p.Pro2371Leu) c.7037C>T (p.Pro2346Leu) n.8908C>T c.7226C>T (p.Pro2409Leu) c.7196C>T (p.Pro2399Leu) c.7148C>T (p.Pro2383Leu) c.7115C>T (p.Pro2372Leu) c.7085C>T (p.Pro2362Leu) c.7082C>T (p.Pro2361Leu) c.7034C>T (p.Pro2345Leu) c.6998C>T (p.Pro2333Leu) c.6995C>T (p.Pro2332Leu) c.6950C>T (p.Pro2317Leu) n.7615C>T | |
X | g.77508514G>C | CA10457397 | ATRX | c.7316C>G (p.Pro2439Arg) c.2414C>G (p.Pro805Arg) c.7202C>G (p.Pro2401Arg) c.*6944C>G (n.*6944C>G) n.5636C>G n.547C>G c.7313C>G (p.Pro2438Arg) c.7229C>G (p.Pro2410Arg) c.7199C>G (p.Pro2400Arg) c.7151C>G (p.Pro2384Arg) c.7112C>G (p.Pro2371Arg) c.7037C>G (p.Pro2346Arg) n.8908C>G c.7226C>G (p.Pro2409Arg) c.7196C>G (p.Pro2399Arg) c.7148C>G (p.Pro2383Arg) c.7115C>G (p.Pro2372Arg) c.7085C>G (p.Pro2362Arg) c.7082C>G (p.Pro2361Arg) c.7034C>G (p.Pro2345Arg) c.6998C>G (p.Pro2333Arg) c.6995C>G (p.Pro2332Arg) c.6950C>G (p.Pro2317Arg) n.7615C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.77508514G= | CA2438929059 | ATRX | c.7316C= (p.Pro2439=) c.2414C= (p.Pro805=) c.7202C= (p.Pro2401=) c.*6944C= (n.*6944C=) n.5636C= n.547C= c.7313C= (p.Pro2438=) c.7229C= (p.Pro2410=) c.7199C= (p.Pro2400=) c.7151C= (p.Pro2384=) c.7112C= (p.Pro2371=) c.7037C= (p.Pro2346=) n.8908C= c.7226C= (p.Pro2409=) c.7196C= (p.Pro2399=) c.7148C= (p.Pro2383=) c.7115C= (p.Pro2372=) c.7085C= (p.Pro2362=) c.7082C= (p.Pro2361=) c.7034C= (p.Pro2345=) c.6998C= (p.Pro2333=) c.6995C= (p.Pro2332=) c.6950C= (p.Pro2317=) n.7615C= | |
X | g.77508514G>T | CA413704505 | ATRX | c.7316C>A (p.Pro2439Gln) c.2414C>A (p.Pro805Gln) c.7202C>A (p.Pro2401Gln) c.*6944C>A (n.*6944C>A) n.5636C>A n.547C>A c.7313C>A (p.Pro2438Gln) c.7229C>A (p.Pro2410Gln) c.7199C>A (p.Pro2400Gln) c.7151C>A (p.Pro2384Gln) c.7112C>A (p.Pro2371Gln) c.7037C>A (p.Pro2346Gln) n.8908C>A c.7226C>A (p.Pro2409Gln) c.7196C>A (p.Pro2399Gln) c.7148C>A (p.Pro2383Gln) c.7115C>A (p.Pro2372Gln) c.7085C>A (p.Pro2362Gln) c.7082C>A (p.Pro2361Gln) c.7034C>A (p.Pro2345Gln) c.6998C>A (p.Pro2333Gln) c.6995C>A (p.Pro2332Gln) c.6950C>A (p.Pro2317Gln) n.7615C>A | dbSNP |
X | g.77508515del | CA2738724292 | ATRX | c.7316del (p.Pro2439GlnfsTer6) c.2414del (p.Pro805GlnfsTer6) c.7202del (p.Pro2401GlnfsTer6) c.*6944del (n.*6944del) n.5636del n.547del c.7313del (p.Pro2438GlnfsTer6) c.7229del (p.Pro2410GlnfsTer6) c.7199del (p.Pro2400GlnfsTer6) c.7151del (p.Pro2384GlnfsTer6) c.7112del (p.Pro2371GlnfsTer6) c.7037del (p.Pro2346GlnfsTer6) n.8908del c.7226del (p.Pro2409GlnfsTer6) c.7196del (p.Pro2399GlnfsTer6) c.7148del (p.Pro2383GlnfsTer6) c.7115del (p.Pro2372GlnfsTer6) c.7085del (p.Pro2362GlnfsTer6) c.7082del (p.Pro2361GlnfsTer6) c.7034del (p.Pro2345GlnfsTer6) c.6998del (p.Pro2333GlnfsTer6) c.6995del (p.Pro2332GlnfsTer6) c.6950del (p.Pro2317GlnfsTer6) n.7615del | dbSNP |
X | g.77508515G>A | CA413704510 | ATRX | c.7315C>T (p.Pro2439Ser) c.2413C>T (p.Pro805Ser) c.7201C>T (p.Pro2401Ser) c.*6943C>T (n.*6943C>T) n.5635C>T n.546C>T c.7312C>T (p.Pro2438Ser) c.7228C>T (p.Pro2410Ser) c.7198C>T (p.Pro2400Ser) c.7150C>T (p.Pro2384Ser) c.7111C>T (p.Pro2371Ser) c.7036C>T (p.Pro2346Ser) n.8907C>T c.7225C>T (p.Pro2409Ser) c.7195C>T (p.Pro2399Ser) c.7147C>T (p.Pro2383Ser) c.7114C>T (p.Pro2372Ser) c.7084C>T (p.Pro2362Ser) c.7081C>T (p.Pro2361Ser) c.7033C>T (p.Pro2345Ser) c.6997C>T (p.Pro2333Ser) c.6994C>T (p.Pro2332Ser) c.6949C>T (p.Pro2317Ser) n.7614C>T | dbSNP |
X | g.77508515G>C | CA413704515 | ATRX | c.7315C>G (p.Pro2439Ala) c.2413C>G (p.Pro805Ala) c.7201C>G (p.Pro2401Ala) c.*6943C>G (n.*6943C>G) n.5635C>G n.546C>G c.7312C>G (p.Pro2438Ala) c.7228C>G (p.Pro2410Ala) c.7198C>G (p.Pro2400Ala) c.7150C>G (p.Pro2384Ala) c.7111C>G (p.Pro2371Ala) c.7036C>G (p.Pro2346Ala) n.8907C>G c.7225C>G (p.Pro2409Ala) c.7195C>G (p.Pro2399Ala) c.7147C>G (p.Pro2383Ala) c.7114C>G (p.Pro2372Ala) c.7084C>G (p.Pro2362Ala) c.7081C>G (p.Pro2361Ala) c.7033C>G (p.Pro2345Ala) c.6997C>G (p.Pro2333Ala) c.6994C>G (p.Pro2332Ala) c.6949C>G (p.Pro2317Ala) n.7614C>G | dbSNP |
X | g.77508515G>T | CA413704512 | ATRX | c.7315C>A (p.Pro2439Thr) c.2413C>A (p.Pro805Thr) c.7201C>A (p.Pro2401Thr) c.*6943C>A (n.*6943C>A) n.5635C>A n.546C>A c.7312C>A (p.Pro2438Thr) c.7228C>A (p.Pro2410Thr) c.7198C>A (p.Pro2400Thr) c.7150C>A (p.Pro2384Thr) c.7111C>A (p.Pro2371Thr) c.7036C>A (p.Pro2346Thr) n.8907C>A c.7225C>A (p.Pro2409Thr) c.7195C>A (p.Pro2399Thr) c.7147C>A (p.Pro2383Thr) c.7114C>A (p.Pro2372Thr) c.7084C>A (p.Pro2362Thr) c.7081C>A (p.Pro2361Thr) c.7033C>A (p.Pro2345Thr) c.6997C>A (p.Pro2333Thr) c.6994C>A (p.Pro2332Thr) c.6949C>A (p.Pro2317Thr) n.7614C>A | dbSNP |
X | g.77508516C>A | CA413704520 | ATRX | c.7314G>T (p.Met2438Ile) c.2412G>T (p.Met804Ile) c.7200G>T (p.Met2400Ile) c.*6942G>T (n.*6942G>T) n.5634G>T n.545G>T c.7311G>T (p.Met2437Ile) c.7227G>T (p.Met2409Ile) c.7197G>T (p.Met2399Ile) c.7149G>T (p.Met2383Ile) c.7110G>T (p.Met2370Ile) c.7035G>T (p.Met2345Ile) n.8906G>T c.7224G>T (p.Met2408Ile) c.7194G>T (p.Met2398Ile) c.7146G>T (p.Met2382Ile) c.7113G>T (p.Met2371Ile) c.7083G>T (p.Met2361Ile) c.7080G>T (p.Met2360Ile) c.7032G>T (p.Met2344Ile) c.6996G>T (p.Met2332Ile) c.6993G>T (p.Met2331Ile) c.6948G>T (p.Met2316Ile) n.7613G>T | |
X | g.77508516C>G | CA413704525 | ATRX | c.7314G>C (p.Met2438Ile) c.2412G>C (p.Met804Ile) c.7200G>C (p.Met2400Ile) c.*6942G>C (n.*6942G>C) n.5634G>C n.545G>C c.7311G>C (p.Met2437Ile) c.7227G>C (p.Met2409Ile) c.7197G>C (p.Met2399Ile) c.7149G>C (p.Met2383Ile) c.7110G>C (p.Met2370Ile) c.7035G>C (p.Met2345Ile) n.8906G>C c.7224G>C (p.Met2408Ile) c.7194G>C (p.Met2398Ile) c.7146G>C (p.Met2382Ile) c.7113G>C (p.Met2371Ile) c.7083G>C (p.Met2361Ile) c.7080G>C (p.Met2360Ile) c.7032G>C (p.Met2344Ile) c.6996G>C (p.Met2332Ile) c.6993G>C (p.Met2331Ile) c.6948G>C (p.Met2316Ile) n.7613G>C | dbSNP |
X | g.77508516C>T | CA413704528 | ATRX | c.7314G>A (p.Met2438Ile) c.2412G>A (p.Met804Ile) c.7200G>A (p.Met2400Ile) c.*6942G>A (n.*6942G>A) n.5634G>A n.545G>A c.7311G>A (p.Met2437Ile) c.7227G>A (p.Met2409Ile) c.7197G>A (p.Met2399Ile) c.7149G>A (p.Met2383Ile) c.7110G>A (p.Met2370Ile) c.7035G>A (p.Met2345Ile) n.8906G>A c.7224G>A (p.Met2408Ile) c.7194G>A (p.Met2398Ile) c.7146G>A (p.Met2382Ile) c.7113G>A (p.Met2371Ile) c.7083G>A (p.Met2361Ile) c.7080G>A (p.Met2360Ile) c.7032G>A (p.Met2344Ile) c.6996G>A (p.Met2332Ile) c.6993G>A (p.Met2331Ile) c.6948G>A (p.Met2316Ile) n.7613G>A | dbSNP |
X | g.77508517A>C | CA413704532 | ATRX | c.7313T>G (p.Met2438Arg) c.2411T>G (p.Met804Arg) c.7199T>G (p.Met2400Arg) c.*6941T>G (n.*6941T>G) n.5633T>G n.544T>G c.7310T>G (p.Met2437Arg) c.7226T>G (p.Met2409Arg) c.7196T>G (p.Met2399Arg) c.7148T>G (p.Met2383Arg) c.7109T>G (p.Met2370Arg) c.7034T>G (p.Met2345Arg) n.8905T>G c.7223T>G (p.Met2408Arg) c.7193T>G (p.Met2398Arg) c.7145T>G (p.Met2382Arg) c.7112T>G (p.Met2371Arg) c.7082T>G (p.Met2361Arg) c.7079T>G (p.Met2360Arg) c.7031T>G (p.Met2344Arg) c.6995T>G (p.Met2332Arg) c.6992T>G (p.Met2331Arg) c.6947T>G (p.Met2316Arg) n.7612T>G | |
X | g.77508517A>G | CA413704533 | ATRX | c.7313T>C (p.Met2438Thr) c.2411T>C (p.Met804Thr) c.7199T>C (p.Met2400Thr) c.*6941T>C (n.*6941T>C) n.5633T>C n.544T>C c.7310T>C (p.Met2437Thr) c.7226T>C (p.Met2409Thr) c.7196T>C (p.Met2399Thr) c.7148T>C (p.Met2383Thr) c.7109T>C (p.Met2370Thr) c.7034T>C (p.Met2345Thr) n.8905T>C c.7223T>C (p.Met2408Thr) c.7193T>C (p.Met2398Thr) c.7145T>C (p.Met2382Thr) c.7112T>C (p.Met2371Thr) c.7082T>C (p.Met2361Thr) c.7079T>C (p.Met2360Thr) c.7031T>C (p.Met2344Thr) c.6995T>C (p.Met2332Thr) c.6992T>C (p.Met2331Thr) c.6947T>C (p.Met2316Thr) n.7612T>C | |
X | g.77508517A>T | CA413704534 | ATRX | c.7313T>A (p.Met2438Lys) c.2411T>A (p.Met804Lys) c.7199T>A (p.Met2400Lys) c.*6941T>A (n.*6941T>A) n.5633T>A n.544T>A c.7310T>A (p.Met2437Lys) c.7226T>A (p.Met2409Lys) c.7196T>A (p.Met2399Lys) c.7148T>A (p.Met2383Lys) c.7109T>A (p.Met2370Lys) c.7034T>A (p.Met2345Lys) n.8905T>A c.7223T>A (p.Met2408Lys) c.7193T>A (p.Met2398Lys) c.7145T>A (p.Met2382Lys) c.7112T>A (p.Met2371Lys) c.7082T>A (p.Met2361Lys) c.7079T>A (p.Met2360Lys) c.7031T>A (p.Met2344Lys) c.6995T>A (p.Met2332Lys) c.6992T>A (p.Met2331Lys) c.6947T>A (p.Met2316Lys) n.7612T>A | dbSNP |
X | g.77508518T>A | CA413704536 | ATRX | c.7312A>T (p.Met2438Leu) c.2410A>T (p.Met804Leu) c.7198A>T (p.Met2400Leu) c.*6940A>T (n.*6940A>T) n.5632A>T n.543A>T c.7309A>T (p.Met2437Leu) c.7225A>T (p.Met2409Leu) c.7195A>T (p.Met2399Leu) c.7147A>T (p.Met2383Leu) c.7108A>T (p.Met2370Leu) c.7033A>T (p.Met2345Leu) n.8904A>T c.7222A>T (p.Met2408Leu) c.7192A>T (p.Met2398Leu) c.7144A>T (p.Met2382Leu) c.7111A>T (p.Met2371Leu) c.7081A>T (p.Met2361Leu) c.7078A>T (p.Met2360Leu) c.7030A>T (p.Met2344Leu) c.6994A>T (p.Met2332Leu) c.6991A>T (p.Met2331Leu) c.6946A>T (p.Met2316Leu) n.7611A>T | |
X | g.77508518T>C | CA413704537 | ATRX | c.7312A>G (p.Met2438Val) c.2410A>G (p.Met804Val) c.7198A>G (p.Met2400Val) c.*6940A>G (n.*6940A>G) n.5632A>G n.543A>G c.7309A>G (p.Met2437Val) c.7225A>G (p.Met2409Val) c.7195A>G (p.Met2399Val) c.7147A>G (p.Met2383Val) c.7108A>G (p.Met2370Val) c.7033A>G (p.Met2345Val) n.8904A>G c.7222A>G (p.Met2408Val) c.7192A>G (p.Met2398Val) c.7144A>G (p.Met2382Val) c.7111A>G (p.Met2371Val) c.7081A>G (p.Met2361Val) c.7078A>G (p.Met2360Val) c.7030A>G (p.Met2344Val) c.6994A>G (p.Met2332Val) c.6991A>G (p.Met2331Val) c.6946A>G (p.Met2316Val) n.7611A>G | |
X | g.77508518T>G | CA413704541 | ATRX | c.7312A>C (p.Met2438Leu) c.2410A>C (p.Met804Leu) c.7198A>C (p.Met2400Leu) c.*6940A>C (n.*6940A>C) n.5632A>C n.543A>C c.7309A>C (p.Met2437Leu) c.7225A>C (p.Met2409Leu) c.7195A>C (p.Met2399Leu) c.7147A>C (p.Met2383Leu) c.7108A>C (p.Met2370Leu) c.7033A>C (p.Met2345Leu) n.8904A>C c.7222A>C (p.Met2408Leu) c.7192A>C (p.Met2398Leu) c.7144A>C (p.Met2382Leu) c.7111A>C (p.Met2371Leu) c.7081A>C (p.Met2361Leu) c.7078A>C (p.Met2360Leu) c.7030A>C (p.Met2344Leu) c.6994A>C (p.Met2332Leu) c.6991A>C (p.Met2331Leu) c.6946A>C (p.Met2316Leu) n.7611A>C | |
X | g.77508519C>A | CA413704550 | ATRX | c.7311G>T (p.Met2437Ile) c.2409G>T (p.Met803Ile) c.7197G>T (p.Met2399Ile) c.*6939G>T (n.*6939G>T) n.5631G>T n.542G>T c.7308G>T (p.Met2436Ile) c.7224G>T (p.Met2408Ile) c.7194G>T (p.Met2398Ile) c.7146G>T (p.Met2382Ile) c.7107G>T (p.Met2369Ile) c.7032G>T (p.Met2344Ile) n.8903G>T c.7221G>T (p.Met2407Ile) c.7191G>T (p.Met2397Ile) c.7143G>T (p.Met2381Ile) c.7110G>T (p.Met2370Ile) c.7080G>T (p.Met2360Ile) c.7077G>T (p.Met2359Ile) c.7029G>T (p.Met2343Ile) c.6993G>T (p.Met2331Ile) c.6990G>T (p.Met2330Ile) c.6945G>T (p.Met2315Ile) n.7610G>T | |
X | g.77508519C= | CA2438929060 | ATRX | c.7311G= (p.Met2437=) c.2409G= (p.Met803=) c.7197G= (p.Met2399=) c.*6939G= (n.*6939G=) n.5631G= n.542G= c.7308G= (p.Met2436=) c.7224G= (p.Met2408=) c.7194G= (p.Met2398=) c.7146G= (p.Met2382=) c.7107G= (p.Met2369=) c.7032G= (p.Met2344=) n.8903G= c.7221G= (p.Met2407=) c.7191G= (p.Met2397=) c.7143G= (p.Met2381=) c.7110G= (p.Met2370=) c.7080G= (p.Met2360=) c.7077G= (p.Met2359=) c.7029G= (p.Met2343=) c.6993G= (p.Met2331=) c.6990G= (p.Met2330=) c.6945G= (p.Met2315=) n.7610G= | |
X | g.77508519C>G | CA413704548 | ATRX | c.7311G>C (p.Met2437Ile) c.2409G>C (p.Met803Ile) c.7197G>C (p.Met2399Ile) c.*6939G>C (n.*6939G>C) n.5631G>C n.542G>C c.7308G>C (p.Met2436Ile) c.7224G>C (p.Met2408Ile) c.7194G>C (p.Met2398Ile) c.7146G>C (p.Met2382Ile) c.7107G>C (p.Met2369Ile) c.7032G>C (p.Met2344Ile) n.8903G>C c.7221G>C (p.Met2407Ile) c.7191G>C (p.Met2397Ile) c.7143G>C (p.Met2381Ile) c.7110G>C (p.Met2370Ile) c.7080G>C (p.Met2360Ile) c.7077G>C (p.Met2359Ile) c.7029G>C (p.Met2343Ile) c.6993G>C (p.Met2331Ile) c.6990G>C (p.Met2330Ile) c.6945G>C (p.Met2315Ile) n.7610G>C | dbSNP |
X | g.77508519C>T | CA413704545 | ATRX | c.7311G>A (p.Met2437Ile) c.2409G>A (p.Met803Ile) c.7197G>A (p.Met2399Ile) c.*6939G>A (n.*6939G>A) n.5631G>A n.542G>A c.7308G>A (p.Met2436Ile) c.7224G>A (p.Met2408Ile) c.7194G>A (p.Met2398Ile) c.7146G>A (p.Met2382Ile) c.7107G>A (p.Met2369Ile) c.7032G>A (p.Met2344Ile) n.8903G>A c.7221G>A (p.Met2407Ile) c.7191G>A (p.Met2397Ile) c.7143G>A (p.Met2381Ile) c.7110G>A (p.Met2370Ile) c.7080G>A (p.Met2360Ile) c.7077G>A (p.Met2359Ile) c.7029G>A (p.Met2343Ile) c.6993G>A (p.Met2331Ile) c.6990G>A (p.Met2330Ile) c.6945G>A (p.Met2315Ile) n.7610G>A | dbSNP |
X | g.77508520A>C | CA413704554 | ATRX | c.7310T>G (p.Met2437Arg) c.2408T>G (p.Met803Arg) c.7196T>G (p.Met2399Arg) c.*6938T>G (n.*6938T>G) n.5630T>G n.541T>G c.7307T>G (p.Met2436Arg) c.7223T>G (p.Met2408Arg) c.7193T>G (p.Met2398Arg) c.7145T>G (p.Met2382Arg) c.7106T>G (p.Met2369Arg) c.7031T>G (p.Met2344Arg) n.8902T>G c.7220T>G (p.Met2407Arg) c.7190T>G (p.Met2397Arg) c.7142T>G (p.Met2381Arg) c.7109T>G (p.Met2370Arg) c.7079T>G (p.Met2360Arg) c.7076T>G (p.Met2359Arg) c.7028T>G (p.Met2343Arg) c.6992T>G (p.Met2331Arg) c.6989T>G (p.Met2330Arg) c.6944T>G (p.Met2315Arg) n.7609T>G | |
X | g.77508520A>G | CA413704556 | ATRX | c.7310T>C (p.Met2437Thr) c.2408T>C (p.Met803Thr) c.7196T>C (p.Met2399Thr) c.*6938T>C (n.*6938T>C) n.5630T>C n.541T>C c.7307T>C (p.Met2436Thr) c.7223T>C (p.Met2408Thr) c.7193T>C (p.Met2398Thr) c.7145T>C (p.Met2382Thr) c.7106T>C (p.Met2369Thr) c.7031T>C (p.Met2344Thr) n.8902T>C c.7220T>C (p.Met2407Thr) c.7190T>C (p.Met2397Thr) c.7142T>C (p.Met2381Thr) c.7109T>C (p.Met2370Thr) c.7079T>C (p.Met2360Thr) c.7076T>C (p.Met2359Thr) c.7028T>C (p.Met2343Thr) c.6992T>C (p.Met2331Thr) c.6989T>C (p.Met2330Thr) c.6944T>C (p.Met2315Thr) n.7609T>C | |
X | g.77508520A>T | CA413704560 | ATRX | c.7310T>A (p.Met2437Lys) c.2408T>A (p.Met803Lys) c.7196T>A (p.Met2399Lys) c.*6938T>A (n.*6938T>A) n.5630T>A n.541T>A c.7307T>A (p.Met2436Lys) c.7223T>A (p.Met2408Lys) c.7193T>A (p.Met2398Lys) c.7145T>A (p.Met2382Lys) c.7106T>A (p.Met2369Lys) c.7031T>A (p.Met2344Lys) n.8902T>A c.7220T>A (p.Met2407Lys) c.7190T>A (p.Met2397Lys) c.7142T>A (p.Met2381Lys) c.7109T>A (p.Met2370Lys) c.7079T>A (p.Met2360Lys) c.7076T>A (p.Met2359Lys) c.7028T>A (p.Met2343Lys) c.6992T>A (p.Met2331Lys) c.6989T>A (p.Met2330Lys) c.6944T>A (p.Met2315Lys) n.7609T>A | dbSNP |
X | g.77508521T>A | CA413704562 | ATRX | c.7309A>T (p.Met2437Leu) c.2407A>T (p.Met803Leu) c.7195A>T (p.Met2399Leu) c.*6937A>T (n.*6937A>T) n.5629A>T n.540A>T c.7306A>T (p.Met2436Leu) c.7222A>T (p.Met2408Leu) c.7192A>T (p.Met2398Leu) c.7144A>T (p.Met2382Leu) c.7105A>T (p.Met2369Leu) c.7030A>T (p.Met2344Leu) n.8901A>T c.7219A>T (p.Met2407Leu) c.7189A>T (p.Met2397Leu) c.7141A>T (p.Met2381Leu) c.7108A>T (p.Met2370Leu) c.7078A>T (p.Met2360Leu) c.7075A>T (p.Met2359Leu) c.7027A>T (p.Met2343Leu) c.6991A>T (p.Met2331Leu) c.6988A>T (p.Met2330Leu) c.6943A>T (p.Met2315Leu) n.7608A>T | |
X | g.77508521T>C | CA413704564 | ATRX | c.7309A>G (p.Met2437Val) c.2407A>G (p.Met803Val) c.7195A>G (p.Met2399Val) c.*6937A>G (n.*6937A>G) n.5629A>G n.540A>G c.7306A>G (p.Met2436Val) c.7222A>G (p.Met2408Val) c.7192A>G (p.Met2398Val) c.7144A>G (p.Met2382Val) c.7105A>G (p.Met2369Val) c.7030A>G (p.Met2344Val) n.8901A>G c.7219A>G (p.Met2407Val) c.7189A>G (p.Met2397Val) c.7141A>G (p.Met2381Val) c.7108A>G (p.Met2370Val) c.7078A>G (p.Met2360Val) c.7075A>G (p.Met2359Val) c.7027A>G (p.Met2343Val) c.6991A>G (p.Met2331Val) c.6988A>G (p.Met2330Val) c.6943A>G (p.Met2315Val) n.7608A>G | dbSNP |
X | g.77508521T>G | CA413704567 | ATRX | c.7309A>C (p.Met2437Leu) c.2407A>C (p.Met803Leu) c.7195A>C (p.Met2399Leu) c.*6937A>C (n.*6937A>C) n.5629A>C n.540A>C c.7306A>C (p.Met2436Leu) c.7222A>C (p.Met2408Leu) c.7192A>C (p.Met2398Leu) c.7144A>C (p.Met2382Leu) c.7105A>C (p.Met2369Leu) c.7030A>C (p.Met2344Leu) n.8901A>C c.7219A>C (p.Met2407Leu) c.7189A>C (p.Met2397Leu) c.7141A>C (p.Met2381Leu) c.7108A>C (p.Met2370Leu) c.7078A>C (p.Met2360Leu) c.7075A>C (p.Met2359Leu) c.7027A>C (p.Met2343Leu) c.6991A>C (p.Met2331Leu) c.6988A>C (p.Met2330Leu) c.6943A>C (p.Met2315Leu) n.7608A>C | ClinVar gnomAD v4 |
X | g.77508522G>A | CA517374142 | ATRX | c.7308C>T (p.Leu2436=) c.2406C>T (p.Leu802=) c.7194C>T (p.Leu2398=) c.*6936C>T (n.*6936C>T) n.5628C>T n.539C>T c.7305C>T (p.Leu2435=) c.7221C>T (p.Leu2407=) c.7191C>T (p.Leu2397=) c.7143C>T (p.Leu2381=) c.7104C>T (p.Leu2368=) c.7029C>T (p.Leu2343=) n.8900C>T c.7218C>T (p.Leu2406=) c.7188C>T (p.Leu2396=) c.7140C>T (p.Leu2380=) c.7107C>T (p.Leu2369=) c.7077C>T (p.Leu2359=) c.7074C>T (p.Leu2358=) c.7026C>T (p.Leu2342=) c.6990C>T (p.Leu2330=) c.6987C>T (p.Leu2329=) c.6942C>T (p.Leu2314=) n.7607C>T | dbSNP |
X | g.77508522G>C | CA517374140 | ATRX | c.7308C>G (p.Leu2436=) c.2406C>G (p.Leu802=) c.7194C>G (p.Leu2398=) c.*6936C>G (n.*6936C>G) n.5628C>G n.539C>G c.7305C>G (p.Leu2435=) c.7221C>G (p.Leu2407=) c.7191C>G (p.Leu2397=) c.7143C>G (p.Leu2381=) c.7104C>G (p.Leu2368=) c.7029C>G (p.Leu2343=) n.8900C>G c.7218C>G (p.Leu2406=) c.7188C>G (p.Leu2396=) c.7140C>G (p.Leu2380=) c.7107C>G (p.Leu2369=) c.7077C>G (p.Leu2359=) c.7074C>G (p.Leu2358=) c.7026C>G (p.Leu2342=) c.6990C>G (p.Leu2330=) c.6987C>G (p.Leu2329=) c.6942C>G (p.Leu2314=) n.7607C>G | |
X | g.77508522G>T | CA517374139 | ATRX | c.7308C>A (p.Leu2436=) c.2406C>A (p.Leu802=) c.7194C>A (p.Leu2398=) c.*6936C>A (n.*6936C>A) n.5628C>A n.539C>A c.7305C>A (p.Leu2435=) c.7221C>A (p.Leu2407=) c.7191C>A (p.Leu2397=) c.7143C>A (p.Leu2381=) c.7104C>A (p.Leu2368=) c.7029C>A (p.Leu2343=) n.8900C>A c.7218C>A (p.Leu2406=) c.7188C>A (p.Leu2396=) c.7140C>A (p.Leu2380=) c.7107C>A (p.Leu2369=) c.7077C>A (p.Leu2359=) c.7074C>A (p.Leu2358=) c.7026C>A (p.Leu2342=) c.6990C>A (p.Leu2330=) c.6987C>A (p.Leu2329=) c.6942C>A (p.Leu2314=) n.7607C>A | dbSNP |
X | g.77508523A>C | CA413704571 | ATRX | c.7307T>G (p.Leu2436Arg) c.2405T>G (p.Leu802Arg) c.7193T>G (p.Leu2398Arg) c.*6935T>G (n.*6935T>G) n.5627T>G n.538T>G c.7304T>G (p.Leu2435Arg) c.7220T>G (p.Leu2407Arg) c.7190T>G (p.Leu2397Arg) c.7142T>G (p.Leu2381Arg) c.7103T>G (p.Leu2368Arg) c.7028T>G (p.Leu2343Arg) n.8899T>G c.7217T>G (p.Leu2406Arg) c.7187T>G (p.Leu2396Arg) c.7139T>G (p.Leu2380Arg) c.7106T>G (p.Leu2369Arg) c.7076T>G (p.Leu2359Arg) c.7073T>G (p.Leu2358Arg) c.7025T>G (p.Leu2342Arg) c.6989T>G (p.Leu2330Arg) c.6986T>G (p.Leu2329Arg) c.6941T>G (p.Leu2314Arg) n.7606T>G | |
X | g.77508523A>G | CA413704573 | ATRX | c.7307T>C (p.Leu2436Pro) c.2405T>C (p.Leu802Pro) c.7193T>C (p.Leu2398Pro) c.*6935T>C (n.*6935T>C) n.5627T>C n.538T>C c.7304T>C (p.Leu2435Pro) c.7220T>C (p.Leu2407Pro) c.7190T>C (p.Leu2397Pro) c.7142T>C (p.Leu2381Pro) c.7103T>C (p.Leu2368Pro) c.7028T>C (p.Leu2343Pro) n.8899T>C c.7217T>C (p.Leu2406Pro) c.7187T>C (p.Leu2396Pro) c.7139T>C (p.Leu2380Pro) c.7106T>C (p.Leu2369Pro) c.7076T>C (p.Leu2359Pro) c.7073T>C (p.Leu2358Pro) c.7025T>C (p.Leu2342Pro) c.6989T>C (p.Leu2330Pro) c.6986T>C (p.Leu2329Pro) c.6941T>C (p.Leu2314Pro) n.7606T>C | dbSNP |
X | g.77508523A>T | CA413704577 | ATRX | c.7307T>A (p.Leu2436His) c.2405T>A (p.Leu802His) c.7193T>A (p.Leu2398His) c.*6935T>A (n.*6935T>A) n.5627T>A n.538T>A c.7304T>A (p.Leu2435His) c.7220T>A (p.Leu2407His) c.7190T>A (p.Leu2397His) c.7142T>A (p.Leu2381His) c.7103T>A (p.Leu2368His) c.7028T>A (p.Leu2343His) n.8899T>A c.7217T>A (p.Leu2406His) c.7187T>A (p.Leu2396His) c.7139T>A (p.Leu2380His) c.7106T>A (p.Leu2369His) c.7076T>A (p.Leu2359His) c.7073T>A (p.Leu2358His) c.7025T>A (p.Leu2342His) c.6989T>A (p.Leu2330His) c.6986T>A (p.Leu2329His) c.6941T>A (p.Leu2314His) n.7606T>A | |
X | g.77508524G>A | CA413704580 | ATRX | c.7306C>T (p.Leu2436Phe) c.2404C>T (p.Leu802Phe) c.7192C>T (p.Leu2398Phe) c.*6934C>T (n.*6934C>T) n.5626C>T n.537C>T c.7303C>T (p.Leu2435Phe) c.7219C>T (p.Leu2407Phe) c.7189C>T (p.Leu2397Phe) c.7141C>T (p.Leu2381Phe) c.7102C>T (p.Leu2368Phe) c.7027C>T (p.Leu2343Phe) n.8898C>T c.7216C>T (p.Leu2406Phe) c.7186C>T (p.Leu2396Phe) c.7138C>T (p.Leu2380Phe) c.7105C>T (p.Leu2369Phe) c.7075C>T (p.Leu2359Phe) c.7072C>T (p.Leu2358Phe) c.7024C>T (p.Leu2342Phe) c.6988C>T (p.Leu2330Phe) c.6985C>T (p.Leu2329Phe) c.6940C>T (p.Leu2314Phe) n.7605C>T | dbSNP |
X | g.77508524G>C | CA10457398 | ATRX | c.7306C>G (p.Leu2436Val) c.2404C>G (p.Leu802Val) c.7192C>G (p.Leu2398Val) c.*6934C>G (n.*6934C>G) n.5626C>G n.537C>G c.7303C>G (p.Leu2435Val) c.7219C>G (p.Leu2407Val) c.7189C>G (p.Leu2397Val) c.7141C>G (p.Leu2381Val) c.7102C>G (p.Leu2368Val) c.7027C>G (p.Leu2343Val) n.8898C>G c.7216C>G (p.Leu2406Val) c.7186C>G (p.Leu2396Val) c.7138C>G (p.Leu2380Val) c.7105C>G (p.Leu2369Val) c.7075C>G (p.Leu2359Val) c.7072C>G (p.Leu2358Val) c.7024C>G (p.Leu2342Val) c.6988C>G (p.Leu2330Val) c.6985C>G (p.Leu2329Val) c.6940C>G (p.Leu2314Val) n.7605C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.77508524G= | CA2438929061 | ATRX | c.7306C= (p.Leu2436=) c.2404C= (p.Leu802=) c.7192C= (p.Leu2398=) c.*6934C= (n.*6934C=) n.5626C= n.537C= c.7303C= (p.Leu2435=) c.7219C= (p.Leu2407=) c.7189C= (p.Leu2397=) c.7141C= (p.Leu2381=) c.7102C= (p.Leu2368=) c.7027C= (p.Leu2343=) n.8898C= c.7216C= (p.Leu2406=) c.7186C= (p.Leu2396=) c.7138C= (p.Leu2380=) c.7105C= (p.Leu2369=) c.7075C= (p.Leu2359=) c.7072C= (p.Leu2358=) c.7024C= (p.Leu2342=) c.6988C= (p.Leu2330=) c.6985C= (p.Leu2329=) c.6940C= (p.Leu2314=) n.7605C= | |
X | g.77508524G>T | CA413704584 | ATRX | c.7306C>A (p.Leu2436Ile) c.2404C>A (p.Leu802Ile) c.7192C>A (p.Leu2398Ile) c.*6934C>A (n.*6934C>A) n.5626C>A n.537C>A c.7303C>A (p.Leu2435Ile) c.7219C>A (p.Leu2407Ile) c.7189C>A (p.Leu2397Ile) c.7141C>A (p.Leu2381Ile) c.7102C>A (p.Leu2368Ile) c.7027C>A (p.Leu2343Ile) n.8898C>A c.7216C>A (p.Leu2406Ile) c.7186C>A (p.Leu2396Ile) c.7138C>A (p.Leu2380Ile) c.7105C>A (p.Leu2369Ile) c.7075C>A (p.Leu2359Ile) c.7072C>A (p.Leu2358Ile) c.7024C>A (p.Leu2342Ile) c.6988C>A (p.Leu2330Ile) c.6985C>A (p.Leu2329Ile) c.6940C>A (p.Leu2314Ile) n.7605C>A | |
X | g.77508525G>A | CA517374143 | ATRX | c.7305C>T (p.His2435=) c.2403C>T (p.His801=) c.7191C>T (p.His2397=) c.*6933C>T (n.*6933C>T) n.5625C>T n.536C>T c.7302C>T (p.His2434=) c.7218C>T (p.His2406=) c.7188C>T (p.His2396=) c.7140C>T (p.His2380=) c.7101C>T (p.His2367=) c.7026C>T (p.His2342=) n.8897C>T c.7215C>T (p.His2405=) c.7185C>T (p.His2395=) c.7137C>T (p.His2379=) c.7104C>T (p.His2368=) c.7074C>T (p.His2358=) c.7071C>T (p.His2357=) c.7023C>T (p.His2341=) c.6987C>T (p.His2329=) c.6984C>T (p.His2328=) c.6939C>T (p.His2313=) n.7604C>T | dbSNP |
X | g.77508525G>C | CA413704592 | ATRX | c.7305C>G (p.His2435Gln) c.2403C>G (p.His801Gln) c.7191C>G (p.His2397Gln) c.*6933C>G (n.*6933C>G) n.5625C>G n.536C>G c.7302C>G (p.His2434Gln) c.7218C>G (p.His2406Gln) c.7188C>G (p.His2396Gln) c.7140C>G (p.His2380Gln) c.7101C>G (p.His2367Gln) c.7026C>G (p.His2342Gln) n.8897C>G c.7215C>G (p.His2405Gln) c.7185C>G (p.His2395Gln) c.7137C>G (p.His2379Gln) c.7104C>G (p.His2368Gln) c.7074C>G (p.His2358Gln) c.7071C>G (p.His2357Gln) c.7023C>G (p.His2341Gln) c.6987C>G (p.His2329Gln) c.6984C>G (p.His2328Gln) c.6939C>G (p.His2313Gln) n.7604C>G | dbSNP |
X | g.77508525G= | CA2438929062 | ATRX | c.7305C= (p.His2435=) c.2403C= (p.His801=) c.7191C= (p.His2397=) c.*6933C= (n.*6933C=) n.5625C= n.536C= c.7302C= (p.His2434=) c.7218C= (p.His2406=) c.7188C= (p.His2396=) c.7140C= (p.His2380=) c.7101C= (p.His2367=) c.7026C= (p.His2342=) n.8897C= c.7215C= (p.His2405=) c.7185C= (p.His2395=) c.7137C= (p.His2379=) c.7104C= (p.His2368=) c.7074C= (p.His2358=) c.7071C= (p.His2357=) c.7023C= (p.His2341=) c.6987C= (p.His2329=) c.6984C= (p.His2328=) c.6939C= (p.His2313=) n.7604C= | |
X | g.77508525G>T | CA413704589 | ATRX | c.7305C>A (p.His2435Gln) c.2403C>A (p.His801Gln) c.7191C>A (p.His2397Gln) c.*6933C>A (n.*6933C>A) n.5625C>A n.536C>A c.7302C>A (p.His2434Gln) c.7218C>A (p.His2406Gln) c.7188C>A (p.His2396Gln) c.7140C>A (p.His2380Gln) c.7101C>A (p.His2367Gln) c.7026C>A (p.His2342Gln) n.8897C>A c.7215C>A (p.His2405Gln) c.7185C>A (p.His2395Gln) c.7137C>A (p.His2379Gln) c.7104C>A (p.His2368Gln) c.7074C>A (p.His2358Gln) c.7071C>A (p.His2357Gln) c.7023C>A (p.His2341Gln) c.6987C>A (p.His2329Gln) c.6984C>A (p.His2328Gln) c.6939C>A (p.His2313Gln) n.7604C>A | |
X | g.77508526T>A | CA413704596 | ATRX | c.7304A>T (p.His2435Leu) c.2402A>T (p.His801Leu) c.7190A>T (p.His2397Leu) c.*6932A>T (n.*6932A>T) n.5624A>T n.535A>T c.7301A>T (p.His2434Leu) c.7217A>T (p.His2406Leu) c.7187A>T (p.His2396Leu) c.7139A>T (p.His2380Leu) c.7100A>T (p.His2367Leu) c.7025A>T (p.His2342Leu) n.8896A>T c.7214A>T (p.His2405Leu) c.7184A>T (p.His2395Leu) c.7136A>T (p.His2379Leu) c.7103A>T (p.His2368Leu) c.7073A>T (p.His2358Leu) c.7070A>T (p.His2357Leu) c.7022A>T (p.His2341Leu) c.6986A>T (p.His2329Leu) c.6983A>T (p.His2328Leu) c.6938A>T (p.His2313Leu) n.7603A>T | dbSNP |
X | g.77508526T>C | CA413704598 | ATRX | c.7304A>G (p.His2435Arg) c.2402A>G (p.His801Arg) c.7190A>G (p.His2397Arg) c.*6932A>G (n.*6932A>G) n.5624A>G n.535A>G c.7301A>G (p.His2434Arg) c.7217A>G (p.His2406Arg) c.7187A>G (p.His2396Arg) c.7139A>G (p.His2380Arg) c.7100A>G (p.His2367Arg) c.7025A>G (p.His2342Arg) n.8896A>G c.7214A>G (p.His2405Arg) c.7184A>G (p.His2395Arg) c.7136A>G (p.His2379Arg) c.7103A>G (p.His2368Arg) c.7073A>G (p.His2358Arg) c.7070A>G (p.His2357Arg) c.7022A>G (p.His2341Arg) c.6986A>G (p.His2329Arg) c.6983A>G (p.His2328Arg) c.6938A>G (p.His2313Arg) n.7603A>G | dbSNP |
X | g.77508526T>G | CA413704601 | ATRX | c.7304A>C (p.His2435Pro) c.2402A>C (p.His801Pro) c.7190A>C (p.His2397Pro) c.*6932A>C (n.*6932A>C) n.5624A>C n.535A>C c.7301A>C (p.His2434Pro) c.7217A>C (p.His2406Pro) c.7187A>C (p.His2396Pro) c.7139A>C (p.His2380Pro) c.7100A>C (p.His2367Pro) c.7025A>C (p.His2342Pro) n.8896A>C c.7214A>C (p.His2405Pro) c.7184A>C (p.His2395Pro) c.7136A>C (p.His2379Pro) c.7103A>C (p.His2368Pro) c.7073A>C (p.His2358Pro) c.7070A>C (p.His2357Pro) c.7022A>C (p.His2341Pro) c.6986A>C (p.His2329Pro) c.6983A>C (p.His2328Pro) c.6938A>C (p.His2313Pro) n.7603A>C | dbSNP |
X | g.77508527G>A | CA413704605 | ATRX | c.7303C>T (p.His2435Tyr) c.2401C>T (p.His801Tyr) c.7189C>T (p.His2397Tyr) c.*6931C>T (n.*6931C>T) n.5623C>T n.534C>T c.7300C>T (p.His2434Tyr) c.7216C>T (p.His2406Tyr) c.7186C>T (p.His2396Tyr) c.7138C>T (p.His2380Tyr) c.7099C>T (p.His2367Tyr) c.7024C>T (p.His2342Tyr) n.8895C>T c.7213C>T (p.His2405Tyr) c.7183C>T (p.His2395Tyr) c.7135C>T (p.His2379Tyr) c.7102C>T (p.His2368Tyr) c.7072C>T (p.His2358Tyr) c.7069C>T (p.His2357Tyr) c.7021C>T (p.His2341Tyr) c.6985C>T (p.His2329Tyr) c.6982C>T (p.His2328Tyr) c.6937C>T (p.His2313Tyr) n.7602C>T | dbSNP |
X | g.77508527G>C | CA413704607 | ATRX | c.7303C>G (p.His2435Asp) c.2401C>G (p.His801Asp) c.7189C>G (p.His2397Asp) c.*6931C>G (n.*6931C>G) n.5623C>G n.534C>G c.7300C>G (p.His2434Asp) c.7216C>G (p.His2406Asp) c.7186C>G (p.His2396Asp) c.7138C>G (p.His2380Asp) c.7099C>G (p.His2367Asp) c.7024C>G (p.His2342Asp) n.8895C>G c.7213C>G (p.His2405Asp) c.7183C>G (p.His2395Asp) c.7135C>G (p.His2379Asp) c.7102C>G (p.His2368Asp) c.7072C>G (p.His2358Asp) c.7069C>G (p.His2357Asp) c.7021C>G (p.His2341Asp) c.6985C>G (p.His2329Asp) c.6982C>G (p.His2328Asp) c.6937C>G (p.His2313Asp) n.7602C>G | |
X | g.77508527G>T | CA413704609 | ATRX | c.7303C>A (p.His2435Asn) c.2401C>A (p.His801Asn) c.7189C>A (p.His2397Asn) c.*6931C>A (n.*6931C>A) n.5623C>A n.534C>A c.7300C>A (p.His2434Asn) c.7216C>A (p.His2406Asn) c.7186C>A (p.His2396Asn) c.7138C>A (p.His2380Asn) c.7099C>A (p.His2367Asn) c.7024C>A (p.His2342Asn) n.8895C>A c.7213C>A (p.His2405Asn) c.7183C>A (p.His2395Asn) c.7135C>A (p.His2379Asn) c.7102C>A (p.His2368Asn) c.7072C>A (p.His2358Asn) c.7069C>A (p.His2357Asn) c.7021C>A (p.His2341Asn) c.6985C>A (p.His2329Asn) c.6982C>A (p.His2328Asn) c.6937C>A (p.His2313Asn) n.7602C>A | |
X | g.77508528A>C | CA517374146 | ATRX | c.7302T>G (p.Gly2434=) c.2400T>G (p.Gly800=) c.7188T>G (p.Gly2396=) c.*6930T>G (n.*6930T>G) n.5622T>G n.533T>G c.7299T>G (p.Gly2433=) c.7215T>G (p.Gly2405=) c.7185T>G (p.Gly2395=) c.7137T>G (p.Gly2379=) c.7098T>G (p.Gly2366=) c.7023T>G (p.Gly2341=) n.8894T>G c.7212T>G (p.Gly2404=) c.7182T>G (p.Gly2394=) c.7134T>G (p.Gly2378=) c.7101T>G (p.Gly2367=) c.7071T>G (p.Gly2357=) c.7068T>G (p.Gly2356=) c.7020T>G (p.Gly2340=) c.6984T>G (p.Gly2328=) c.6981T>G (p.Gly2327=) c.6936T>G (p.Gly2312=) n.7601T>G | |
X | g.77508528A>G | CA517374148 | ATRX | c.7302T>C (p.Gly2434=) c.2400T>C (p.Gly800=) c.7188T>C (p.Gly2396=) c.*6930T>C (n.*6930T>C) n.5622T>C n.533T>C c.7299T>C (p.Gly2433=) c.7215T>C (p.Gly2405=) c.7185T>C (p.Gly2395=) c.7137T>C (p.Gly2379=) c.7098T>C (p.Gly2366=) c.7023T>C (p.Gly2341=) n.8894T>C c.7212T>C (p.Gly2404=) c.7182T>C (p.Gly2394=) c.7134T>C (p.Gly2378=) c.7101T>C (p.Gly2367=) c.7071T>C (p.Gly2357=) c.7068T>C (p.Gly2356=) c.7020T>C (p.Gly2340=) c.6984T>C (p.Gly2328=) c.6981T>C (p.Gly2327=) c.6936T>C (p.Gly2312=) n.7601T>C | |
X | g.77508528A>T | CA517374147 | ATRX | c.7302T>A (p.Gly2434=) c.2400T>A (p.Gly800=) c.7188T>A (p.Gly2396=) c.*6930T>A (n.*6930T>A) n.5622T>A n.533T>A c.7299T>A (p.Gly2433=) c.7215T>A (p.Gly2405=) c.7185T>A (p.Gly2395=) c.7137T>A (p.Gly2379=) c.7098T>A (p.Gly2366=) c.7023T>A (p.Gly2341=) n.8894T>A c.7212T>A (p.Gly2404=) c.7182T>A (p.Gly2394=) c.7134T>A (p.Gly2378=) c.7101T>A (p.Gly2367=) c.7071T>A (p.Gly2357=) c.7068T>A (p.Gly2356=) c.7020T>A (p.Gly2340=) c.6984T>A (p.Gly2328=) c.6981T>A (p.Gly2327=) c.6936T>A (p.Gly2312=) n.7601T>A | |
X | g.77508529C>A | CA413704612 | ATRX | c.7301G>T (p.Gly2434Val) c.2399G>T (p.Gly800Val) c.7187G>T (p.Gly2396Val) c.*6929G>T (n.*6929G>T) n.5621G>T n.532G>T c.7298G>T (p.Gly2433Val) c.7214G>T (p.Gly2405Val) c.7184G>T (p.Gly2395Val) c.7136G>T (p.Gly2379Val) c.7097G>T (p.Gly2366Val) c.7022G>T (p.Gly2341Val) n.8893G>T c.7211G>T (p.Gly2404Val) c.7181G>T (p.Gly2394Val) c.7133G>T (p.Gly2378Val) c.7100G>T (p.Gly2367Val) c.7070G>T (p.Gly2357Val) c.7067G>T (p.Gly2356Val) c.7019G>T (p.Gly2340Val) c.6983G>T (p.Gly2328Val) c.6980G>T (p.Gly2327Val) c.6935G>T (p.Gly2312Val) n.7600G>T | |
X | g.77508529C= | CA2438929063 | ATRX | c.7301G= (p.Gly2434=) c.2399G= (p.Gly800=) c.7187G= (p.Gly2396=) c.*6929G= (n.*6929G=) n.5621G= n.532G= c.7298G= (p.Gly2433=) c.7214G= (p.Gly2405=) c.7184G= (p.Gly2395=) c.7136G= (p.Gly2379=) c.7097G= (p.Gly2366=) c.7022G= (p.Gly2341=) n.8893G= c.7211G= (p.Gly2404=) c.7181G= (p.Gly2394=) c.7133G= (p.Gly2378=) c.7100G= (p.Gly2367=) c.7070G= (p.Gly2357=) c.7067G= (p.Gly2356=) c.7019G= (p.Gly2340=) c.6983G= (p.Gly2328=) c.6980G= (p.Gly2327=) c.6935G= (p.Gly2312=) n.7600G= | |
X | g.77508529C>G | CA413704614 | ATRX | c.7301G>C (p.Gly2434Ala) c.2399G>C (p.Gly800Ala) c.7187G>C (p.Gly2396Ala) c.*6929G>C (n.*6929G>C) n.5621G>C n.532G>C c.7298G>C (p.Gly2433Ala) c.7214G>C (p.Gly2405Ala) c.7184G>C (p.Gly2395Ala) c.7136G>C (p.Gly2379Ala) c.7097G>C (p.Gly2366Ala) c.7022G>C (p.Gly2341Ala) n.8893G>C c.7211G>C (p.Gly2404Ala) c.7181G>C (p.Gly2394Ala) c.7133G>C (p.Gly2378Ala) c.7100G>C (p.Gly2367Ala) c.7070G>C (p.Gly2357Ala) c.7067G>C (p.Gly2356Ala) c.7019G>C (p.Gly2340Ala) c.6983G>C (p.Gly2328Ala) c.6980G>C (p.Gly2327Ala) c.6935G>C (p.Gly2312Ala) n.7600G>C | dbSNP |
X | g.77508529C>T | CA413704618 | ATRX | c.7301G>A (p.Gly2434Asp) c.2399G>A (p.Gly800Asp) c.7187G>A (p.Gly2396Asp) c.*6929G>A (n.*6929G>A) n.5621G>A n.532G>A c.7298G>A (p.Gly2433Asp) c.7214G>A (p.Gly2405Asp) c.7184G>A (p.Gly2395Asp) c.7136G>A (p.Gly2379Asp) c.7097G>A (p.Gly2366Asp) c.7022G>A (p.Gly2341Asp) n.8893G>A c.7211G>A (p.Gly2404Asp) c.7181G>A (p.Gly2394Asp) c.7133G>A (p.Gly2378Asp) c.7100G>A (p.Gly2367Asp) c.7070G>A (p.Gly2357Asp) c.7067G>A (p.Gly2356Asp) c.7019G>A (p.Gly2340Asp) c.6983G>A (p.Gly2328Asp) c.6980G>A (p.Gly2327Asp) c.6935G>A (p.Gly2312Asp) n.7600G>A | dbSNP |
X | g.77508530C>A | CA413704622 | ATRX | c.7300G>T (p.Gly2434Cys) c.2398G>T (p.Gly800Cys) c.7186G>T (p.Gly2396Cys) c.*6928G>T (n.*6928G>T) n.5620G>T n.531G>T c.7297G>T (p.Gly2433Cys) c.7213G>T (p.Gly2405Cys) c.7183G>T (p.Gly2395Cys) c.7135G>T (p.Gly2379Cys) c.7096G>T (p.Gly2366Cys) c.7021G>T (p.Gly2341Cys) n.8892G>T c.7210G>T (p.Gly2404Cys) c.7180G>T (p.Gly2394Cys) c.7132G>T (p.Gly2378Cys) c.7099G>T (p.Gly2367Cys) c.7069G>T (p.Gly2357Cys) c.7066G>T (p.Gly2356Cys) c.7018G>T (p.Gly2340Cys) c.6982G>T (p.Gly2328Cys) c.6979G>T (p.Gly2327Cys) c.6934G>T (p.Gly2312Cys) n.7599G>T | dbSNP |
X | g.77508530C= | CA2438929064 | ATRX | c.7300G= (p.Gly2434=) c.2398G= (p.Gly800=) c.7186G= (p.Gly2396=) c.*6928G= (n.*6928G=) n.5620G= n.531G= c.7297G= (p.Gly2433=) c.7213G= (p.Gly2405=) c.7183G= (p.Gly2395=) c.7135G= (p.Gly2379=) c.7096G= (p.Gly2366=) c.7021G= (p.Gly2341=) n.8892G= c.7210G= (p.Gly2404=) c.7180G= (p.Gly2394=) c.7132G= (p.Gly2378=) c.7099G= (p.Gly2367=) c.7069G= (p.Gly2357=) c.7066G= (p.Gly2356=) c.7018G= (p.Gly2340=) c.6982G= (p.Gly2328=) c.6979G= (p.Gly2327=) c.6934G= (p.Gly2312=) n.7599G= | |
X | g.77508530C>G | CA413704624 | ATRX | c.7300G>C (p.Gly2434Arg) c.2398G>C (p.Gly800Arg) c.7186G>C (p.Gly2396Arg) c.*6928G>C (n.*6928G>C) n.5620G>C n.531G>C c.7297G>C (p.Gly2433Arg) c.7213G>C (p.Gly2405Arg) c.7183G>C (p.Gly2395Arg) c.7135G>C (p.Gly2379Arg) c.7096G>C (p.Gly2366Arg) c.7021G>C (p.Gly2341Arg) n.8892G>C c.7210G>C (p.Gly2404Arg) c.7180G>C (p.Gly2394Arg) c.7132G>C (p.Gly2378Arg) c.7099G>C (p.Gly2367Arg) c.7069G>C (p.Gly2357Arg) c.7066G>C (p.Gly2356Arg) c.7018G>C (p.Gly2340Arg) c.6982G>C (p.Gly2328Arg) c.6979G>C (p.Gly2327Arg) c.6934G>C (p.Gly2312Arg) n.7599G>C | dbSNP |
X | g.77508530C>T | CA413704626 | ATRX | c.7300G>A (p.Gly2434Ser) c.2398G>A (p.Gly800Ser) c.7186G>A (p.Gly2396Ser) c.*6928G>A (n.*6928G>A) n.5620G>A n.531G>A c.7297G>A (p.Gly2433Ser) c.7213G>A (p.Gly2405Ser) c.7183G>A (p.Gly2395Ser) c.7135G>A (p.Gly2379Ser) c.7096G>A (p.Gly2366Ser) c.7021G>A (p.Gly2341Ser) n.8892G>A c.7210G>A (p.Gly2404Ser) c.7180G>A (p.Gly2394Ser) c.7132G>A (p.Gly2378Ser) c.7099G>A (p.Gly2367Ser) c.7069G>A (p.Gly2357Ser) c.7066G>A (p.Gly2356Ser) c.7018G>A (p.Gly2340Ser) c.6982G>A (p.Gly2328Ser) c.6979G>A (p.Gly2327Ser) c.6934G>A (p.Gly2312Ser) n.7599G>A | dbSNP |
X | g.77508531C>A | CA517374149 | ATRX | c.7299G>T (p.Leu2433=) c.2397G>T (p.Leu799=) c.7185G>T (p.Leu2395=) c.*6927G>T (n.*6927G>T) n.5619G>T n.530G>T c.7296G>T (p.Leu2432=) c.7212G>T (p.Leu2404=) c.7182G>T (p.Leu2394=) c.7134G>T (p.Leu2378=) c.7095G>T (p.Leu2365=) c.7020G>T (p.Leu2340=) n.8891G>T c.7209G>T (p.Leu2403=) c.7179G>T (p.Leu2393=) c.7131G>T (p.Leu2377=) c.7098G>T (p.Leu2366=) c.7068G>T (p.Leu2356=) c.7065G>T (p.Leu2355=) c.7017G>T (p.Leu2339=) c.6981G>T (p.Leu2327=) c.6978G>T (p.Leu2326=) c.6933G>T (p.Leu2311=) n.7598G>T | |
X | g.77508531C>G | CA517374150 | ATRX | c.7299G>C (p.Leu2433=) c.2397G>C (p.Leu799=) c.7185G>C (p.Leu2395=) c.*6927G>C (n.*6927G>C) n.5619G>C n.530G>C c.7296G>C (p.Leu2432=) c.7212G>C (p.Leu2404=) c.7182G>C (p.Leu2394=) c.7134G>C (p.Leu2378=) c.7095G>C (p.Leu2365=) c.7020G>C (p.Leu2340=) n.8891G>C c.7209G>C (p.Leu2403=) c.7179G>C (p.Leu2393=) c.7131G>C (p.Leu2377=) c.7098G>C (p.Leu2366=) c.7068G>C (p.Leu2356=) c.7065G>C (p.Leu2355=) c.7017G>C (p.Leu2339=) c.6981G>C (p.Leu2327=) c.6978G>C (p.Leu2326=) c.6933G>C (p.Leu2311=) n.7598G>C | dbSNP |
X | g.77508531C>T | CA517374151 | ATRX | c.7299G>A (p.Leu2433=) c.2397G>A (p.Leu799=) c.7185G>A (p.Leu2395=) c.*6927G>A (n.*6927G>A) n.5619G>A n.530G>A c.7296G>A (p.Leu2432=) c.7212G>A (p.Leu2404=) c.7182G>A (p.Leu2394=) c.7134G>A (p.Leu2378=) c.7095G>A (p.Leu2365=) c.7020G>A (p.Leu2340=) n.8891G>A c.7209G>A (p.Leu2403=) c.7179G>A (p.Leu2393=) c.7131G>A (p.Leu2377=) c.7098G>A (p.Leu2366=) c.7068G>A (p.Leu2356=) c.7065G>A (p.Leu2355=) c.7017G>A (p.Leu2339=) c.6981G>A (p.Leu2327=) c.6978G>A (p.Leu2326=) c.6933G>A (p.Leu2311=) n.7598G>A | dbSNP |
X | g.77508532A>C | CA413704633 | ATRX | c.7298T>G (p.Leu2433Arg) c.2396T>G (p.Leu799Arg) c.7184T>G (p.Leu2395Arg) c.*6926T>G (n.*6926T>G) n.5618T>G n.529T>G c.7295T>G (p.Leu2432Arg) c.7211T>G (p.Leu2404Arg) c.7181T>G (p.Leu2394Arg) c.7133T>G (p.Leu2378Arg) c.7094T>G (p.Leu2365Arg) c.7019T>G (p.Leu2340Arg) n.8890T>G c.7208T>G (p.Leu2403Arg) c.7178T>G (p.Leu2393Arg) c.7130T>G (p.Leu2377Arg) c.7097T>G (p.Leu2366Arg) c.7067T>G (p.Leu2356Arg) c.7064T>G (p.Leu2355Arg) c.7016T>G (p.Leu2339Arg) c.6980T>G (p.Leu2327Arg) c.6977T>G (p.Leu2326Arg) c.6932T>G (p.Leu2311Arg) n.7597T>G | |
X | g.77508532A>G | CA413704636 | ATRX | c.7298T>C (p.Leu2433Pro) c.2396T>C (p.Leu799Pro) c.7184T>C (p.Leu2395Pro) c.*6926T>C (n.*6926T>C) n.5618T>C n.529T>C c.7295T>C (p.Leu2432Pro) c.7211T>C (p.Leu2404Pro) c.7181T>C (p.Leu2394Pro) c.7133T>C (p.Leu2378Pro) c.7094T>C (p.Leu2365Pro) c.7019T>C (p.Leu2340Pro) n.8890T>C c.7208T>C (p.Leu2403Pro) c.7178T>C (p.Leu2393Pro) c.7130T>C (p.Leu2377Pro) c.7097T>C (p.Leu2366Pro) c.7067T>C (p.Leu2356Pro) c.7064T>C (p.Leu2355Pro) c.7016T>C (p.Leu2339Pro) c.6980T>C (p.Leu2327Pro) c.6977T>C (p.Leu2326Pro) c.6932T>C (p.Leu2311Pro) n.7597T>C | dbSNP gnomAD v4 |
X | g.77508532A>T | CA413704630 | ATRX | c.7298T>A (p.Leu2433Gln) c.2396T>A (p.Leu799Gln) c.7184T>A (p.Leu2395Gln) c.*6926T>A (n.*6926T>A) n.5618T>A n.529T>A c.7295T>A (p.Leu2432Gln) c.7211T>A (p.Leu2404Gln) c.7181T>A (p.Leu2394Gln) c.7133T>A (p.Leu2378Gln) c.7094T>A (p.Leu2365Gln) c.7019T>A (p.Leu2340Gln) n.8890T>A c.7208T>A (p.Leu2403Gln) c.7178T>A (p.Leu2393Gln) c.7130T>A (p.Leu2377Gln) c.7097T>A (p.Leu2366Gln) c.7067T>A (p.Leu2356Gln) c.7064T>A (p.Leu2355Gln) c.7016T>A (p.Leu2339Gln) c.6980T>A (p.Leu2327Gln) c.6977T>A (p.Leu2326Gln) c.6932T>A (p.Leu2311Gln) n.7597T>A | dbSNP |
X | g.77508533G>A | CA517374153 | ATRX | c.7297C>T (p.Leu2433=) c.2395C>T (p.Leu799=) c.7183C>T (p.Leu2395=) c.*6925C>T (n.*6925C>T) n.5617C>T n.528C>T c.7294C>T (p.Leu2432=) c.7210C>T (p.Leu2404=) c.7180C>T (p.Leu2394=) c.7132C>T (p.Leu2378=) c.7093C>T (p.Leu2365=) c.7018C>T (p.Leu2340=) n.8889C>T c.7207C>T (p.Leu2403=) c.7177C>T (p.Leu2393=) c.7129C>T (p.Leu2377=) c.7096C>T (p.Leu2366=) c.7066C>T (p.Leu2356=) c.7063C>T (p.Leu2355=) c.7015C>T (p.Leu2339=) c.6979C>T (p.Leu2327=) c.6976C>T (p.Leu2326=) c.6931C>T (p.Leu2311=) n.7596C>T | ClinVar dbSNP |
X | g.77508533G>C | CA413704643 | ATRX | c.7297C>G (p.Leu2433Val) c.2395C>G (p.Leu799Val) c.7183C>G (p.Leu2395Val) c.*6925C>G (n.*6925C>G) n.5617C>G n.528C>G c.7294C>G (p.Leu2432Val) c.7210C>G (p.Leu2404Val) c.7180C>G (p.Leu2394Val) c.7132C>G (p.Leu2378Val) c.7093C>G (p.Leu2365Val) c.7018C>G (p.Leu2340Val) n.8889C>G c.7207C>G (p.Leu2403Val) c.7177C>G (p.Leu2393Val) c.7129C>G (p.Leu2377Val) c.7096C>G (p.Leu2366Val) c.7066C>G (p.Leu2356Val) c.7063C>G (p.Leu2355Val) c.7015C>G (p.Leu2339Val) c.6979C>G (p.Leu2327Val) c.6976C>G (p.Leu2326Val) c.6931C>G (p.Leu2311Val) n.7596C>G | gnomAD v4 |
X | g.77508533G>T | CA413704640 | ATRX | c.7297C>A (p.Leu2433Met) c.2395C>A (p.Leu799Met) c.7183C>A (p.Leu2395Met) c.*6925C>A (n.*6925C>A) n.5617C>A n.528C>A c.7294C>A (p.Leu2432Met) c.7210C>A (p.Leu2404Met) c.7180C>A (p.Leu2394Met) c.7132C>A (p.Leu2378Met) c.7093C>A (p.Leu2365Met) c.7018C>A (p.Leu2340Met) n.8889C>A c.7207C>A (p.Leu2403Met) c.7177C>A (p.Leu2393Met) c.7129C>A (p.Leu2377Met) c.7096C>A (p.Leu2366Met) c.7066C>A (p.Leu2356Met) c.7063C>A (p.Leu2355Met) c.7015C>A (p.Leu2339Met) c.6979C>A (p.Leu2327Met) c.6976C>A (p.Leu2326Met) c.6931C>A (p.Leu2311Met) n.7596C>A | |
X | g.77508534T>A | CA517374154 | ATRX | c.7296A>T (p.Thr2432=) c.2394A>T (p.Thr798=) c.7182A>T (p.Thr2394=) c.*6924A>T (n.*6924A>T) n.5616A>T n.527A>T c.7293A>T (p.Thr2431=) c.7209A>T (p.Thr2403=) c.7179A>T (p.Thr2393=) c.7131A>T (p.Thr2377=) c.7092A>T (p.Thr2364=) c.7017A>T (p.Thr2339=) n.8888A>T c.7206A>T (p.Thr2402=) c.7176A>T (p.Thr2392=) c.7128A>T (p.Thr2376=) c.7095A>T (p.Thr2365=) c.7065A>T (p.Thr2355=) c.7062A>T (p.Thr2354=) c.7014A>T (p.Thr2338=) c.6978A>T (p.Thr2326=) c.6975A>T (p.Thr2325=) c.6930A>T (p.Thr2310=) n.7595A>T | |
X | g.77508534T>C | CA517374156 | ATRX | c.7296A>G (p.Thr2432=) c.2394A>G (p.Thr798=) c.7182A>G (p.Thr2394=) c.*6924A>G (n.*6924A>G) n.5616A>G n.527A>G c.7293A>G (p.Thr2431=) c.7209A>G (p.Thr2403=) c.7179A>G (p.Thr2393=) c.7131A>G (p.Thr2377=) c.7092A>G (p.Thr2364=) c.7017A>G (p.Thr2339=) n.8888A>G c.7206A>G (p.Thr2402=) c.7176A>G (p.Thr2392=) c.7128A>G (p.Thr2376=) c.7095A>G (p.Thr2365=) c.7065A>G (p.Thr2355=) c.7062A>G (p.Thr2354=) c.7014A>G (p.Thr2338=) c.6978A>G (p.Thr2326=) c.6975A>G (p.Thr2325=) c.6930A>G (p.Thr2310=) n.7595A>G | dbSNP |
X | g.77508534T>G | CA517374155 | ATRX | c.7296A>C (p.Thr2432=) c.2394A>C (p.Thr798=) c.7182A>C (p.Thr2394=) c.*6924A>C (n.*6924A>C) n.5616A>C n.527A>C c.7293A>C (p.Thr2431=) c.7209A>C (p.Thr2403=) c.7179A>C (p.Thr2393=) c.7131A>C (p.Thr2377=) c.7092A>C (p.Thr2364=) c.7017A>C (p.Thr2339=) n.8888A>C c.7206A>C (p.Thr2402=) c.7176A>C (p.Thr2392=) c.7128A>C (p.Thr2376=) c.7095A>C (p.Thr2365=) c.7065A>C (p.Thr2355=) c.7062A>C (p.Thr2354=) c.7014A>C (p.Thr2338=) c.6978A>C (p.Thr2326=) c.6975A>C (p.Thr2325=) c.6930A>C (p.Thr2310=) n.7595A>C | |
X | g.77508534T= | CA2438929065 | ATRX | c.7296A= (p.Thr2432=) c.2394A= (p.Thr798=) c.7182A= (p.Thr2394=) c.*6924A= (n.*6924A=) n.5616A= n.527A= c.7293A= (p.Thr2431=) c.7209A= (p.Thr2403=) c.7179A= (p.Thr2393=) c.7131A= (p.Thr2377=) c.7092A= (p.Thr2364=) c.7017A= (p.Thr2339=) n.8888A= c.7206A= (p.Thr2402=) c.7176A= (p.Thr2392=) c.7128A= (p.Thr2376=) c.7095A= (p.Thr2365=) c.7065A= (p.Thr2355=) c.7062A= (p.Thr2354=) c.7014A= (p.Thr2338=) c.6978A= (p.Thr2326=) c.6975A= (p.Thr2325=) c.6930A= (p.Thr2310=) n.7595A= | |
X | g.77508535G>A | CA413704647 | ATRX | c.7295C>T (p.Thr2432Ile) c.2393C>T (p.Thr798Ile) c.7181C>T (p.Thr2394Ile) c.*6923C>T (n.*6923C>T) n.5615C>T n.526C>T c.7292C>T (p.Thr2431Ile) c.7208C>T (p.Thr2403Ile) c.7178C>T (p.Thr2393Ile) c.7130C>T (p.Thr2377Ile) c.7091C>T (p.Thr2364Ile) c.7016C>T (p.Thr2339Ile) n.8887C>T c.7205C>T (p.Thr2402Ile) c.7175C>T (p.Thr2392Ile) c.7127C>T (p.Thr2376Ile) c.7094C>T (p.Thr2365Ile) c.7064C>T (p.Thr2355Ile) c.7061C>T (p.Thr2354Ile) c.7013C>T (p.Thr2338Ile) c.6977C>T (p.Thr2326Ile) c.6974C>T (p.Thr2325Ile) c.6929C>T (p.Thr2310Ile) n.7594C>T | COSMIC COSMIC |
X | g.77508535G>C | CA413704656 | ATRX | c.7295C>G (p.Thr2432Arg) c.2393C>G (p.Thr798Arg) c.7181C>G (p.Thr2394Arg) c.*6923C>G (n.*6923C>G) n.5615C>G n.526C>G c.7292C>G (p.Thr2431Arg) c.7208C>G (p.Thr2403Arg) c.7178C>G (p.Thr2393Arg) c.7130C>G (p.Thr2377Arg) c.7091C>G (p.Thr2364Arg) c.7016C>G (p.Thr2339Arg) n.8887C>G c.7205C>G (p.Thr2402Arg) c.7175C>G (p.Thr2392Arg) c.7127C>G (p.Thr2376Arg) c.7094C>G (p.Thr2365Arg) c.7064C>G (p.Thr2355Arg) c.7061C>G (p.Thr2354Arg) c.7013C>G (p.Thr2338Arg) c.6977C>G (p.Thr2326Arg) c.6974C>G (p.Thr2325Arg) c.6929C>G (p.Thr2310Arg) n.7594C>G | dbSNP |
X | g.77508535G>T | CA413704661 | ATRX | c.7295C>A (p.Thr2432Lys) c.2393C>A (p.Thr798Lys) c.7181C>A (p.Thr2394Lys) c.*6923C>A (n.*6923C>A) n.5615C>A n.526C>A c.7292C>A (p.Thr2431Lys) c.7208C>A (p.Thr2403Lys) c.7178C>A (p.Thr2393Lys) c.7130C>A (p.Thr2377Lys) c.7091C>A (p.Thr2364Lys) c.7016C>A (p.Thr2339Lys) n.8887C>A c.7205C>A (p.Thr2402Lys) c.7175C>A (p.Thr2392Lys) c.7127C>A (p.Thr2376Lys) c.7094C>A (p.Thr2365Lys) c.7064C>A (p.Thr2355Lys) c.7061C>A (p.Thr2354Lys) c.7013C>A (p.Thr2338Lys) c.6977C>A (p.Thr2326Lys) c.6974C>A (p.Thr2325Lys) c.6929C>A (p.Thr2310Lys) n.7594C>A | |
X | g.77508536T>A | CA413704664 | ATRX | c.7294A>T (p.Thr2432Ser) c.2392A>T (p.Thr798Ser) c.7180A>T (p.Thr2394Ser) c.*6922A>T (n.*6922A>T) n.5614A>T n.525A>T c.7291A>T (p.Thr2431Ser) c.7207A>T (p.Thr2403Ser) c.7177A>T (p.Thr2393Ser) c.7129A>T (p.Thr2377Ser) c.7090A>T (p.Thr2364Ser) c.7015A>T (p.Thr2339Ser) n.8886A>T c.7204A>T (p.Thr2402Ser) c.7174A>T (p.Thr2392Ser) c.7126A>T (p.Thr2376Ser) c.7093A>T (p.Thr2365Ser) c.7063A>T (p.Thr2355Ser) c.7060A>T (p.Thr2354Ser) c.7012A>T (p.Thr2338Ser) c.6976A>T (p.Thr2326Ser) c.6973A>T (p.Thr2325Ser) c.6928A>T (p.Thr2310Ser) n.7593A>T | dbSNP |
X | g.77508536T>C | CA413704667 | ATRX | c.7294A>G (p.Thr2432Ala) c.2392A>G (p.Thr798Ala) c.7180A>G (p.Thr2394Ala) c.*6922A>G (n.*6922A>G) n.5614A>G n.525A>G c.7291A>G (p.Thr2431Ala) c.7207A>G (p.Thr2403Ala) c.7177A>G (p.Thr2393Ala) c.7129A>G (p.Thr2377Ala) c.7090A>G (p.Thr2364Ala) c.7015A>G (p.Thr2339Ala) n.8886A>G c.7204A>G (p.Thr2402Ala) c.7174A>G (p.Thr2392Ala) c.7126A>G (p.Thr2376Ala) c.7093A>G (p.Thr2365Ala) c.7063A>G (p.Thr2355Ala) c.7060A>G (p.Thr2354Ala) c.7012A>G (p.Thr2338Ala) c.6976A>G (p.Thr2326Ala) c.6973A>G (p.Thr2325Ala) c.6928A>G (p.Thr2310Ala) n.7593A>G | |
X | g.77508536T>G | CA413704670 | ATRX | c.7294A>C (p.Thr2432Pro) c.2392A>C (p.Thr798Pro) c.7180A>C (p.Thr2394Pro) c.*6922A>C (n.*6922A>C) n.5614A>C n.525A>C c.7291A>C (p.Thr2431Pro) c.7207A>C (p.Thr2403Pro) c.7177A>C (p.Thr2393Pro) c.7129A>C (p.Thr2377Pro) c.7090A>C (p.Thr2364Pro) c.7015A>C (p.Thr2339Pro) n.8886A>C c.7204A>C (p.Thr2402Pro) c.7174A>C (p.Thr2392Pro) c.7126A>C (p.Thr2376Pro) c.7093A>C (p.Thr2365Pro) c.7063A>C (p.Thr2355Pro) c.7060A>C (p.Thr2354Pro) c.7012A>C (p.Thr2338Pro) c.6976A>C (p.Thr2326Pro) c.6973A>C (p.Thr2325Pro) c.6928A>C (p.Thr2310Pro) n.7593A>C | |
X | g.77508537T>A | CA517374158 | ATRX | c.7293A>T (p.Ala2431=) c.2391A>T (p.Ala797=) c.7179A>T (p.Ala2393=) c.*6921A>T (n.*6921A>T) n.5613A>T n.524A>T c.7290A>T (p.Ala2430=) c.7206A>T (p.Ala2402=) c.7176A>T (p.Ala2392=) c.7128A>T (p.Ala2376=) c.7089A>T (p.Ala2363=) c.7014A>T (p.Ala2338=) n.8885A>T c.7203A>T (p.Ala2401=) c.7173A>T (p.Ala2391=) c.7125A>T (p.Ala2375=) c.7092A>T (p.Ala2364=) c.7062A>T (p.Ala2354=) c.7059A>T (p.Ala2353=) c.7011A>T (p.Ala2337=) c.6975A>T (p.Ala2325=) c.6972A>T (p.Ala2324=) c.6927A>T (p.Ala2309=) n.7592A>T | |
X | g.77508537T>C | CA517374159 | ATRX | c.7293A>G (p.Ala2431=) c.2391A>G (p.Ala797=) c.7179A>G (p.Ala2393=) c.*6921A>G (n.*6921A>G) n.5613A>G n.524A>G c.7290A>G (p.Ala2430=) c.7206A>G (p.Ala2402=) c.7176A>G (p.Ala2392=) c.7128A>G (p.Ala2376=) c.7089A>G (p.Ala2363=) c.7014A>G (p.Ala2338=) n.8885A>G c.7203A>G (p.Ala2401=) c.7173A>G (p.Ala2391=) c.7125A>G (p.Ala2375=) c.7092A>G (p.Ala2364=) c.7062A>G (p.Ala2354=) c.7059A>G (p.Ala2353=) c.7011A>G (p.Ala2337=) c.6975A>G (p.Ala2325=) c.6972A>G (p.Ala2324=) c.6927A>G (p.Ala2309=) n.7592A>G | |
X | g.77508537T>G | CA517374160 | ATRX | c.7293A>C (p.Ala2431=) c.2391A>C (p.Ala797=) c.7179A>C (p.Ala2393=) c.*6921A>C (n.*6921A>C) n.5613A>C n.524A>C c.7290A>C (p.Ala2430=) c.7206A>C (p.Ala2402=) c.7176A>C (p.Ala2392=) c.7128A>C (p.Ala2376=) c.7089A>C (p.Ala2363=) c.7014A>C (p.Ala2338=) n.8885A>C c.7203A>C (p.Ala2401=) c.7173A>C (p.Ala2391=) c.7125A>C (p.Ala2375=) c.7092A>C (p.Ala2364=) c.7062A>C (p.Ala2354=) c.7059A>C (p.Ala2353=) c.7011A>C (p.Ala2337=) c.6975A>C (p.Ala2325=) c.6972A>C (p.Ala2324=) c.6927A>C (p.Ala2309=) n.7592A>C | |
X | g.77508538G>A | CA413704674 | ATRX | c.7292C>T (p.Ala2431Val) c.2390C>T (p.Ala797Val) c.7178C>T (p.Ala2393Val) c.*6920C>T (n.*6920C>T) n.5612C>T n.523C>T c.7289C>T (p.Ala2430Val) c.7205C>T (p.Ala2402Val) c.7175C>T (p.Ala2392Val) c.7127C>T (p.Ala2376Val) c.7088C>T (p.Ala2363Val) c.7013C>T (p.Ala2338Val) n.8884C>T c.7202C>T (p.Ala2401Val) c.7172C>T (p.Ala2391Val) c.7124C>T (p.Ala2375Val) c.7091C>T (p.Ala2364Val) c.7061C>T (p.Ala2354Val) c.7058C>T (p.Ala2353Val) c.7010C>T (p.Ala2337Val) c.6974C>T (p.Ala2325Val) c.6971C>T (p.Ala2324Val) c.6926C>T (p.Ala2309Val) n.7591C>T | dbSNP |
X | g.77508538G>C | CA413704677 | ATRX | c.7292C>G (p.Ala2431Gly) c.2390C>G (p.Ala797Gly) c.7178C>G (p.Ala2393Gly) c.*6920C>G (n.*6920C>G) n.5612C>G n.523C>G c.7289C>G (p.Ala2430Gly) c.7205C>G (p.Ala2402Gly) c.7175C>G (p.Ala2392Gly) c.7127C>G (p.Ala2376Gly) c.7088C>G (p.Ala2363Gly) c.7013C>G (p.Ala2338Gly) n.8884C>G c.7202C>G (p.Ala2401Gly) c.7172C>G (p.Ala2391Gly) c.7124C>G (p.Ala2375Gly) c.7091C>G (p.Ala2364Gly) c.7061C>G (p.Ala2354Gly) c.7058C>G (p.Ala2353Gly) c.7010C>G (p.Ala2337Gly) c.6974C>G (p.Ala2325Gly) c.6971C>G (p.Ala2324Gly) c.6926C>G (p.Ala2309Gly) n.7591C>G | |
X | g.77508538G>T | CA413704679 | ATRX | c.7292C>A (p.Ala2431Glu) c.2390C>A (p.Ala797Glu) c.7178C>A (p.Ala2393Glu) c.*6920C>A (n.*6920C>A) n.5612C>A n.523C>A c.7289C>A (p.Ala2430Glu) c.7205C>A (p.Ala2402Glu) c.7175C>A (p.Ala2392Glu) c.7127C>A (p.Ala2376Glu) c.7088C>A (p.Ala2363Glu) c.7013C>A (p.Ala2338Glu) n.8884C>A c.7202C>A (p.Ala2401Glu) c.7172C>A (p.Ala2391Glu) c.7124C>A (p.Ala2375Glu) c.7091C>A (p.Ala2364Glu) c.7061C>A (p.Ala2354Glu) c.7058C>A (p.Ala2353Glu) c.7010C>A (p.Ala2337Glu) c.6974C>A (p.Ala2325Glu) c.6971C>A (p.Ala2324Glu) c.6926C>A (p.Ala2309Glu) n.7591C>A | |
X | g.77508538_77508539delinsGC | CA2438929066 | ATRX | c.7291_7292delinsGC (p.Ala2431=) c.2389_2390delinsGC (p.Ala797=) c.7177_7178delinsGC (p.Ala2393=) c.*6919_*6920delinsGC (n.*6919_*6920delinsGC) n.5611_5612delinsGC n.522_523delinsGC c.7288_7289delinsGC (p.Ala2430=) c.7204_7205delinsGC (p.Ala2402=) c.7174_7175delinsGC (p.Ala2392=) c.7126_7127delinsGC (p.Ala2376=) c.7087_7088delinsGC (p.Ala2363=) c.7012_7013delinsGC (p.Ala2338=) n.8883_8884delinsGC c.7201_7202delinsGC (p.Ala2401=) c.7171_7172delinsGC (p.Ala2391=) c.7123_7124delinsGC (p.Ala2375=) c.7090_7091delinsGC (p.Ala2364=) c.7060_7061delinsGC (p.Ala2354=) c.7057_7058delinsGC (p.Ala2353=) c.7009_7010delinsGC (p.Ala2337=) c.6973_6974delinsGC (p.Ala2325=) c.6970_6971delinsGC (p.Ala2324=) c.6925_6926delinsGC (p.Ala2309=) n.7590_7591delinsGC | |
X | g.77508539del | CA878453053 | ATRX | c.7291del (p.Ala2431GlnfsTer7) c.2389del (p.Ala797GlnfsTer7) c.7177del (p.Ala2393GlnfsTer7) c.*6919del (n.*6919del) n.5611del n.522del c.7288del (p.Ala2430GlnfsTer7) c.7204del (p.Ala2402GlnfsTer7) c.7174del (p.Ala2392GlnfsTer7) c.7126del (p.Ala2376GlnfsTer7) c.7087del (p.Ala2363GlnfsTer7) c.7012del (p.Ala2338GlnfsTer7) n.8883del c.7201del (p.Ala2401GlnfsTer7) c.7171del (p.Ala2391GlnfsTer7) c.7123del (p.Ala2375GlnfsTer7) c.7090del (p.Ala2364GlnfsTer7) c.7060del (p.Ala2354GlnfsTer7) c.7057del (p.Ala2353GlnfsTer7) c.7009del (p.Ala2337GlnfsTer7) c.6973del (p.Ala2325GlnfsTer7) c.6970del (p.Ala2324GlnfsTer7) c.6925del (p.Ala2309GlnfsTer7) n.7590del | dbSNP gnomAD v3 gnomAD v4 |
X | g.77508539C>A | CA413704685 | ATRX | c.7291G>T (p.Ala2431Ser) c.2389G>T (p.Ala797Ser) c.7177G>T (p.Ala2393Ser) c.*6919G>T (n.*6919G>T) n.5611G>T n.522G>T c.7288G>T (p.Ala2430Ser) c.7204G>T (p.Ala2402Ser) c.7174G>T (p.Ala2392Ser) c.7126G>T (p.Ala2376Ser) c.7087G>T (p.Ala2363Ser) c.7012G>T (p.Ala2338Ser) n.8883G>T c.7201G>T (p.Ala2401Ser) c.7171G>T (p.Ala2391Ser) c.7123G>T (p.Ala2375Ser) c.7090G>T (p.Ala2364Ser) c.7060G>T (p.Ala2354Ser) c.7057G>T (p.Ala2353Ser) c.7009G>T (p.Ala2337Ser) c.6973G>T (p.Ala2325Ser) c.6970G>T (p.Ala2324Ser) c.6925G>T (p.Ala2309Ser) n.7590G>T | |
X | g.77508539C>G | CA413704688 | ATRX | c.7291G>C (p.Ala2431Pro) c.2389G>C (p.Ala797Pro) c.7177G>C (p.Ala2393Pro) c.*6919G>C (n.*6919G>C) n.5611G>C n.522G>C c.7288G>C (p.Ala2430Pro) c.7204G>C (p.Ala2402Pro) c.7174G>C (p.Ala2392Pro) c.7126G>C (p.Ala2376Pro) c.7087G>C (p.Ala2363Pro) c.7012G>C (p.Ala2338Pro) n.8883G>C c.7201G>C (p.Ala2401Pro) c.7171G>C (p.Ala2391Pro) c.7123G>C (p.Ala2375Pro) c.7090G>C (p.Ala2364Pro) c.7060G>C (p.Ala2354Pro) c.7057G>C (p.Ala2353Pro) c.7009G>C (p.Ala2337Pro) c.6973G>C (p.Ala2325Pro) c.6970G>C (p.Ala2324Pro) c.6925G>C (p.Ala2309Pro) n.7590G>C | |
X | g.77508539C>T | CA413704691 | ATRX | c.7291G>A (p.Ala2431Thr) c.2389G>A (p.Ala797Thr) c.7177G>A (p.Ala2393Thr) c.*6919G>A (n.*6919G>A) n.5611G>A n.522G>A c.7288G>A (p.Ala2430Thr) c.7204G>A (p.Ala2402Thr) c.7174G>A (p.Ala2392Thr) c.7126G>A (p.Ala2376Thr) c.7087G>A (p.Ala2363Thr) c.7012G>A (p.Ala2338Thr) n.8883G>A c.7201G>A (p.Ala2401Thr) c.7171G>A (p.Ala2391Thr) c.7123G>A (p.Ala2375Thr) c.7090G>A (p.Ala2364Thr) c.7060G>A (p.Ala2354Thr) c.7057G>A (p.Ala2353Thr) c.7009G>A (p.Ala2337Thr) c.6973G>A (p.Ala2325Thr) c.6970G>A (p.Ala2324Thr) c.6925G>A (p.Ala2309Thr) n.7590G>A | |
X | g.77508540T>A | CA413704696 | ATRX | c.7290A>T (p.Gln2430His) c.2388A>T (p.Gln796His) c.7176A>T (p.Gln2392His) c.*6918A>T (n.*6918A>T) n.5610A>T n.521A>T c.7287A>T (p.Gln2429His) c.7203A>T (p.Gln2401His) c.7173A>T (p.Gln2391His) c.7125A>T (p.Gln2375His) c.7086A>T (p.Gln2362His) c.7011A>T (p.Gln2337His) n.8882A>T c.7200A>T (p.Gln2400His) c.7170A>T (p.Gln2390His) c.7122A>T (p.Gln2374His) c.7089A>T (p.Gln2363His) c.7059A>T (p.Gln2353His) c.7056A>T (p.Gln2352His) c.7008A>T (p.Gln2336His) c.6972A>T (p.Gln2324His) c.6969A>T (p.Gln2323His) c.6924A>T (p.Gln2308His) n.7589A>T | |
X | g.77508540T>C | CA517374161 | ATRX | c.7290A>G (p.Gln2430=) c.2388A>G (p.Gln796=) c.7176A>G (p.Gln2392=) c.*6918A>G (n.*6918A>G) n.5610A>G n.521A>G c.7287A>G (p.Gln2429=) c.7203A>G (p.Gln2401=) c.7173A>G (p.Gln2391=) c.7125A>G (p.Gln2375=) c.7086A>G (p.Gln2362=) c.7011A>G (p.Gln2337=) n.8882A>G c.7200A>G (p.Gln2400=) c.7170A>G (p.Gln2390=) c.7122A>G (p.Gln2374=) c.7089A>G (p.Gln2363=) c.7059A>G (p.Gln2353=) c.7056A>G (p.Gln2352=) c.7008A>G (p.Gln2336=) c.6972A>G (p.Gln2324=) c.6969A>G (p.Gln2323=) c.6924A>G (p.Gln2308=) n.7589A>G | |
X | g.77508540T>G | CA413704694 | ATRX | c.7290A>C (p.Gln2430His) c.2388A>C (p.Gln796His) c.7176A>C (p.Gln2392His) c.*6918A>C (n.*6918A>C) n.5610A>C n.521A>C c.7287A>C (p.Gln2429His) c.7203A>C (p.Gln2401His) c.7173A>C (p.Gln2391His) c.7125A>C (p.Gln2375His) c.7086A>C (p.Gln2362His) c.7011A>C (p.Gln2337His) n.8882A>C c.7200A>C (p.Gln2400His) c.7170A>C (p.Gln2390His) c.7122A>C (p.Gln2374His) c.7089A>C (p.Gln2363His) c.7059A>C (p.Gln2353His) c.7056A>C (p.Gln2352His) c.7008A>C (p.Gln2336His) c.6972A>C (p.Gln2324His) c.6969A>C (p.Gln2323His) c.6924A>C (p.Gln2308His) n.7589A>C | |
X | g.77508541T>A | CA413704701 | ATRX | c.7289A>T (p.Gln2430Leu) c.2387A>T (p.Gln796Leu) c.7175A>T (p.Gln2392Leu) c.*6917A>T (n.*6917A>T) n.5609A>T n.520A>T c.7286A>T (p.Gln2429Leu) c.7202A>T (p.Gln2401Leu) c.7172A>T (p.Gln2391Leu) c.7124A>T (p.Gln2375Leu) c.7085A>T (p.Gln2362Leu) c.7010A>T (p.Gln2337Leu) n.8881A>T c.7199A>T (p.Gln2400Leu) c.7169A>T (p.Gln2390Leu) c.7121A>T (p.Gln2374Leu) c.7088A>T (p.Gln2363Leu) c.7058A>T (p.Gln2353Leu) c.7055A>T (p.Gln2352Leu) c.7007A>T (p.Gln2336Leu) c.6971A>T (p.Gln2324Leu) c.6968A>T (p.Gln2323Leu) c.6923A>T (p.Gln2308Leu) n.7588A>T | |
X | g.77508541T>C | CA413704704 | ATRX | c.7289A>G (p.Gln2430Arg) c.2387A>G (p.Gln796Arg) c.7175A>G (p.Gln2392Arg) c.*6917A>G (n.*6917A>G) n.5609A>G n.520A>G c.7286A>G (p.Gln2429Arg) c.7202A>G (p.Gln2401Arg) c.7172A>G (p.Gln2391Arg) c.7124A>G (p.Gln2375Arg) c.7085A>G (p.Gln2362Arg) c.7010A>G (p.Gln2337Arg) n.8881A>G c.7199A>G (p.Gln2400Arg) c.7169A>G (p.Gln2390Arg) c.7121A>G (p.Gln2374Arg) c.7088A>G (p.Gln2363Arg) c.7058A>G (p.Gln2353Arg) c.7055A>G (p.Gln2352Arg) c.7007A>G (p.Gln2336Arg) c.6971A>G (p.Gln2324Arg) c.6968A>G (p.Gln2323Arg) c.6923A>G (p.Gln2308Arg) n.7588A>G | |
X | g.77508541T>G | CA413704705 | ATRX | c.7289A>C (p.Gln2430Pro) c.2387A>C (p.Gln796Pro) c.7175A>C (p.Gln2392Pro) c.*6917A>C (n.*6917A>C) n.5609A>C n.520A>C c.7286A>C (p.Gln2429Pro) c.7202A>C (p.Gln2401Pro) c.7172A>C (p.Gln2391Pro) c.7124A>C (p.Gln2375Pro) c.7085A>C (p.Gln2362Pro) c.7010A>C (p.Gln2337Pro) n.8881A>C c.7199A>C (p.Gln2400Pro) c.7169A>C (p.Gln2390Pro) c.7121A>C (p.Gln2374Pro) c.7088A>C (p.Gln2363Pro) c.7058A>C (p.Gln2353Pro) c.7055A>C (p.Gln2352Pro) c.7007A>C (p.Gln2336Pro) c.6971A>C (p.Gln2324Pro) c.6968A>C (p.Gln2323Pro) c.6923A>C (p.Gln2308Pro) n.7588A>C | |
X | g.77508542G>A | CA413704710 | ATRX | c.7288C>T (p.Gln2430Ter) c.2386C>T (p.Gln796Ter) c.7174C>T (p.Gln2392Ter) c.*6916C>T (n.*6916C>T) n.5608C>T n.519C>T c.7285C>T (p.Gln2429Ter) c.7201C>T (p.Gln2401Ter) c.7171C>T (p.Gln2391Ter) c.7123C>T (p.Gln2375Ter) c.7084C>T (p.Gln2362Ter) c.7009C>T (p.Gln2337Ter) n.8880C>T c.7198C>T (p.Gln2400Ter) c.7168C>T (p.Gln2390Ter) c.7120C>T (p.Gln2374Ter) c.7087C>T (p.Gln2363Ter) c.7057C>T (p.Gln2353Ter) c.7054C>T (p.Gln2352Ter) c.7006C>T (p.Gln2336Ter) c.6970C>T (p.Gln2324Ter) c.6967C>T (p.Gln2323Ter) c.6922C>T (p.Gln2308Ter) n.7587C>T | |
X | g.77508542G>C | CA413704713 | ATRX | c.7288C>G (p.Gln2430Glu) c.2386C>G (p.Gln796Glu) c.7174C>G (p.Gln2392Glu) c.*6916C>G (n.*6916C>G) n.5608C>G n.519C>G c.7285C>G (p.Gln2429Glu) c.7201C>G (p.Gln2401Glu) c.7171C>G (p.Gln2391Glu) c.7123C>G (p.Gln2375Glu) c.7084C>G (p.Gln2362Glu) c.7009C>G (p.Gln2337Glu) n.8880C>G c.7198C>G (p.Gln2400Glu) c.7168C>G (p.Gln2390Glu) c.7120C>G (p.Gln2374Glu) c.7087C>G (p.Gln2363Glu) c.7057C>G (p.Gln2353Glu) c.7054C>G (p.Gln2352Glu) c.7006C>G (p.Gln2336Glu) c.6970C>G (p.Gln2324Glu) c.6967C>G (p.Gln2323Glu) c.6922C>G (p.Gln2308Glu) n.7587C>G | dbSNP |
X | g.77508542G>T | CA413704715 | ATRX | c.7288C>A (p.Gln2430Lys) c.2386C>A (p.Gln796Lys) c.7174C>A (p.Gln2392Lys) c.*6916C>A (n.*6916C>A) n.5608C>A n.519C>A c.7285C>A (p.Gln2429Lys) c.7201C>A (p.Gln2401Lys) c.7171C>A (p.Gln2391Lys) c.7123C>A (p.Gln2375Lys) c.7084C>A (p.Gln2362Lys) c.7009C>A (p.Gln2337Lys) n.8880C>A c.7198C>A (p.Gln2400Lys) c.7168C>A (p.Gln2390Lys) c.7120C>A (p.Gln2374Lys) c.7087C>A (p.Gln2363Lys) c.7057C>A (p.Gln2353Lys) c.7054C>A (p.Gln2352Lys) c.7006C>A (p.Gln2336Lys) c.6970C>A (p.Gln2324Lys) c.6967C>A (p.Gln2323Lys) c.6922C>A (p.Gln2308Lys) n.7587C>A | |
X | g.77508543T>A | CA413704720 | ATRX | c.7287A>T (p.Gln2429His) c.2385A>T (p.Gln795His) c.7173A>T (p.Gln2391His) c.*6915A>T (n.*6915A>T) n.5607A>T n.518A>T c.7284A>T (p.Gln2428His) c.7200A>T (p.Gln2400His) c.7170A>T (p.Gln2390His) c.7122A>T (p.Gln2374His) c.7083A>T (p.Gln2361His) c.7008A>T (p.Gln2336His) n.8879A>T c.7197A>T (p.Gln2399His) c.7167A>T (p.Gln2389His) c.7119A>T (p.Gln2373His) c.7086A>T (p.Gln2362His) c.7056A>T (p.Gln2352His) c.7053A>T (p.Gln2351His) c.7005A>T (p.Gln2335His) c.6969A>T (p.Gln2323His) c.6966A>T (p.Gln2322His) c.6921A>T (p.Gln2307His) n.7586A>T | dbSNP |
X | g.77508543T>C | CA517374163 | ATRX | c.7287A>G (p.Gln2429=) c.2385A>G (p.Gln795=) c.7173A>G (p.Gln2391=) c.*6915A>G (n.*6915A>G) n.5607A>G n.518A>G c.7284A>G (p.Gln2428=) c.7200A>G (p.Gln2400=) c.7170A>G (p.Gln2390=) c.7122A>G (p.Gln2374=) c.7083A>G (p.Gln2361=) c.7008A>G (p.Gln2336=) n.8879A>G c.7197A>G (p.Gln2399=) c.7167A>G (p.Gln2389=) c.7119A>G (p.Gln2373=) c.7086A>G (p.Gln2362=) c.7056A>G (p.Gln2352=) c.7053A>G (p.Gln2351=) c.7005A>G (p.Gln2335=) c.6969A>G (p.Gln2323=) c.6966A>G (p.Gln2322=) c.6921A>G (p.Gln2307=) n.7586A>G | gnomAD v4 |
X | g.77508543T>G | CA413704722 | ATRX | c.7287A>C (p.Gln2429His) c.2385A>C (p.Gln795His) c.7173A>C (p.Gln2391His) c.*6915A>C (n.*6915A>C) n.5607A>C n.518A>C c.7284A>C (p.Gln2428His) c.7200A>C (p.Gln2400His) c.7170A>C (p.Gln2390His) c.7122A>C (p.Gln2374His) c.7083A>C (p.Gln2361His) c.7008A>C (p.Gln2336His) n.8879A>C c.7197A>C (p.Gln2399His) c.7167A>C (p.Gln2389His) c.7119A>C (p.Gln2373His) c.7086A>C (p.Gln2362His) c.7056A>C (p.Gln2352His) c.7053A>C (p.Gln2351His) c.7005A>C (p.Gln2335His) c.6969A>C (p.Gln2323His) c.6966A>C (p.Gln2322His) c.6921A>C (p.Gln2307His) n.7586A>C | |
X | g.77508544T>A | CA413704725 | ATRX | c.7286A>T (p.Gln2429Leu) c.2384A>T (p.Gln795Leu) c.7172A>T (p.Gln2391Leu) c.*6914A>T (n.*6914A>T) n.5606A>T n.517A>T c.7283A>T (p.Gln2428Leu) c.7199A>T (p.Gln2400Leu) c.7169A>T (p.Gln2390Leu) c.7121A>T (p.Gln2374Leu) c.7082A>T (p.Gln2361Leu) c.7007A>T (p.Gln2336Leu) n.8878A>T c.7196A>T (p.Gln2399Leu) c.7166A>T (p.Gln2389Leu) c.7118A>T (p.Gln2373Leu) c.7085A>T (p.Gln2362Leu) c.7055A>T (p.Gln2352Leu) c.7052A>T (p.Gln2351Leu) c.7004A>T (p.Gln2335Leu) c.6968A>T (p.Gln2323Leu) c.6965A>T (p.Gln2322Leu) c.6920A>T (p.Gln2307Leu) n.7585A>T | |
X | g.77508544T>C | CA413704728 | ATRX | c.7286A>G (p.Gln2429Arg) c.2384A>G (p.Gln795Arg) c.7172A>G (p.Gln2391Arg) c.*6914A>G (n.*6914A>G) n.5606A>G n.517A>G c.7283A>G (p.Gln2428Arg) c.7199A>G (p.Gln2400Arg) c.7169A>G (p.Gln2390Arg) c.7121A>G (p.Gln2374Arg) c.7082A>G (p.Gln2361Arg) c.7007A>G (p.Gln2336Arg) n.8878A>G c.7196A>G (p.Gln2399Arg) c.7166A>G (p.Gln2389Arg) c.7118A>G (p.Gln2373Arg) c.7085A>G (p.Gln2362Arg) c.7055A>G (p.Gln2352Arg) c.7052A>G (p.Gln2351Arg) c.7004A>G (p.Gln2335Arg) c.6968A>G (p.Gln2323Arg) c.6965A>G (p.Gln2322Arg) c.6920A>G (p.Gln2307Arg) n.7585A>G | |
X | g.77508544T>G | CA413704732 | ATRX | c.7286A>C (p.Gln2429Pro) c.2384A>C (p.Gln795Pro) c.7172A>C (p.Gln2391Pro) c.*6914A>C (n.*6914A>C) n.5606A>C n.517A>C c.7283A>C (p.Gln2428Pro) c.7199A>C (p.Gln2400Pro) c.7169A>C (p.Gln2390Pro) c.7121A>C (p.Gln2374Pro) c.7082A>C (p.Gln2361Pro) c.7007A>C (p.Gln2336Pro) n.8878A>C c.7196A>C (p.Gln2399Pro) c.7166A>C (p.Gln2389Pro) c.7118A>C (p.Gln2373Pro) c.7085A>C (p.Gln2362Pro) c.7055A>C (p.Gln2352Pro) c.7052A>C (p.Gln2351Pro) c.7004A>C (p.Gln2335Pro) c.6968A>C (p.Gln2323Pro) c.6965A>C (p.Gln2322Pro) c.6920A>C (p.Gln2307Pro) n.7585A>C | |
X | g.77508545G>A | CA413704735 | ATRX | c.7285C>T (p.Gln2429Ter) c.2383C>T (p.Gln795Ter) c.7171C>T (p.Gln2391Ter) c.*6913C>T (n.*6913C>T) n.5605C>T n.516C>T c.7282C>T (p.Gln2428Ter) c.7198C>T (p.Gln2400Ter) c.7168C>T (p.Gln2390Ter) c.7120C>T (p.Gln2374Ter) c.7081C>T (p.Gln2361Ter) c.7006C>T (p.Gln2336Ter) n.8877C>T c.7195C>T (p.Gln2399Ter) c.7165C>T (p.Gln2389Ter) c.7117C>T (p.Gln2373Ter) c.7084C>T (p.Gln2362Ter) c.7054C>T (p.Gln2352Ter) c.7051C>T (p.Gln2351Ter) c.7003C>T (p.Gln2335Ter) c.6967C>T (p.Gln2323Ter) c.6964C>T (p.Gln2322Ter) c.6919C>T (p.Gln2307Ter) n.7584C>T | dbSNP |
X | g.77508545G>C | CA413704739 | ATRX | c.7285C>G (p.Gln2429Glu) c.2383C>G (p.Gln795Glu) c.7171C>G (p.Gln2391Glu) c.*6913C>G (n.*6913C>G) n.5605C>G n.516C>G c.7282C>G (p.Gln2428Glu) c.7198C>G (p.Gln2400Glu) c.7168C>G (p.Gln2390Glu) c.7120C>G (p.Gln2374Glu) c.7081C>G (p.Gln2361Glu) c.7006C>G (p.Gln2336Glu) n.8877C>G c.7195C>G (p.Gln2399Glu) c.7165C>G (p.Gln2389Glu) c.7117C>G (p.Gln2373Glu) c.7084C>G (p.Gln2362Glu) c.7054C>G (p.Gln2352Glu) c.7051C>G (p.Gln2351Glu) c.7003C>G (p.Gln2335Glu) c.6967C>G (p.Gln2323Glu) c.6964C>G (p.Gln2322Glu) c.6919C>G (p.Gln2307Glu) n.7584C>G | dbSNP |
X | g.77508545G>T | CA413704741 | ATRX | c.7285C>A (p.Gln2429Lys) c.2383C>A (p.Gln795Lys) c.7171C>A (p.Gln2391Lys) c.*6913C>A (n.*6913C>A) n.5605C>A n.516C>A c.7282C>A (p.Gln2428Lys) c.7198C>A (p.Gln2400Lys) c.7168C>A (p.Gln2390Lys) c.7120C>A (p.Gln2374Lys) c.7081C>A (p.Gln2361Lys) c.7006C>A (p.Gln2336Lys) n.8877C>A c.7195C>A (p.Gln2399Lys) c.7165C>A (p.Gln2389Lys) c.7117C>A (p.Gln2373Lys) c.7084C>A (p.Gln2362Lys) c.7054C>A (p.Gln2352Lys) c.7051C>A (p.Gln2351Lys) c.7003C>A (p.Gln2335Lys) c.6967C>A (p.Gln2323Lys) c.6964C>A (p.Gln2322Lys) c.6919C>A (p.Gln2307Lys) n.7584C>A | |
X | g.77508546A>C | CA413704746 | ATRX | c.7284T>G (p.Tyr2428Ter) c.2382T>G (p.Tyr794Ter) c.7170T>G (p.Tyr2390Ter) c.*6912T>G (n.*6912T>G) n.5604T>G n.515T>G c.7281T>G (p.Tyr2427Ter) c.7197T>G (p.Tyr2399Ter) c.7167T>G (p.Tyr2389Ter) c.7119T>G (p.Tyr2373Ter) c.7080T>G (p.Tyr2360Ter) c.7005T>G (p.Tyr2335Ter) n.8876T>G c.7194T>G (p.Tyr2398Ter) c.7164T>G (p.Tyr2388Ter) c.7116T>G (p.Tyr2372Ter) c.7083T>G (p.Tyr2361Ter) c.7053T>G (p.Tyr2351Ter) c.7050T>G (p.Tyr2350Ter) c.7002T>G (p.Tyr2334Ter) c.6966T>G (p.Tyr2322Ter) c.6963T>G (p.Tyr2321Ter) c.6918T>G (p.Tyr2306Ter) n.7583T>G | |
X | g.77508546A>G | CA517374164 | ATRX | c.7284T>C (p.Tyr2428=) c.2382T>C (p.Tyr794=) c.7170T>C (p.Tyr2390=) c.*6912T>C (n.*6912T>C) n.5604T>C n.515T>C c.7281T>C (p.Tyr2427=) c.7197T>C (p.Tyr2399=) c.7167T>C (p.Tyr2389=) c.7119T>C (p.Tyr2373=) c.7080T>C (p.Tyr2360=) c.7005T>C (p.Tyr2335=) n.8876T>C c.7194T>C (p.Tyr2398=) c.7164T>C (p.Tyr2388=) c.7116T>C (p.Tyr2372=) c.7083T>C (p.Tyr2361=) c.7053T>C (p.Tyr2351=) c.7050T>C (p.Tyr2350=) c.7002T>C (p.Tyr2334=) c.6966T>C (p.Tyr2322=) c.6963T>C (p.Tyr2321=) c.6918T>C (p.Tyr2306=) n.7583T>C | ClinVar dbSNP gnomAD v4 |
X | g.77508546A>T | CA413704750 | ATRX | c.7284T>A (p.Tyr2428Ter) c.2382T>A (p.Tyr794Ter) c.7170T>A (p.Tyr2390Ter) c.*6912T>A (n.*6912T>A) n.5604T>A n.515T>A c.7281T>A (p.Tyr2427Ter) c.7197T>A (p.Tyr2399Ter) c.7167T>A (p.Tyr2389Ter) c.7119T>A (p.Tyr2373Ter) c.7080T>A (p.Tyr2360Ter) c.7005T>A (p.Tyr2335Ter) n.8876T>A c.7194T>A (p.Tyr2398Ter) c.7164T>A (p.Tyr2388Ter) c.7116T>A (p.Tyr2372Ter) c.7083T>A (p.Tyr2361Ter) c.7053T>A (p.Tyr2351Ter) c.7050T>A (p.Tyr2350Ter) c.7002T>A (p.Tyr2334Ter) c.6966T>A (p.Tyr2322Ter) c.6963T>A (p.Tyr2321Ter) c.6918T>A (p.Tyr2306Ter) n.7583T>A | dbSNP |
X | g.77508547T>A | CA413704755 | ATRX | c.7283A>T (p.Tyr2428Phe) c.2381A>T (p.Tyr794Phe) c.7169A>T (p.Tyr2390Phe) c.*6911A>T (n.*6911A>T) n.5603A>T n.514A>T c.7280A>T (p.Tyr2427Phe) c.7196A>T (p.Tyr2399Phe) c.7166A>T (p.Tyr2389Phe) c.7118A>T (p.Tyr2373Phe) c.7079A>T (p.Tyr2360Phe) c.7004A>T (p.Tyr2335Phe) n.8875A>T c.7193A>T (p.Tyr2398Phe) c.7163A>T (p.Tyr2388Phe) c.7115A>T (p.Tyr2372Phe) c.7082A>T (p.Tyr2361Phe) c.7052A>T (p.Tyr2351Phe) c.7049A>T (p.Tyr2350Phe) c.7001A>T (p.Tyr2334Phe) c.6965A>T (p.Tyr2322Phe) c.6962A>T (p.Tyr2321Phe) c.6917A>T (p.Tyr2306Phe) n.7582A>T | dbSNP |
X | g.77508547T>C | CA413704757 | ATRX | c.7283A>G (p.Tyr2428Cys) c.2381A>G (p.Tyr794Cys) c.7169A>G (p.Tyr2390Cys) c.*6911A>G (n.*6911A>G) n.5603A>G n.514A>G c.7280A>G (p.Tyr2427Cys) c.7196A>G (p.Tyr2399Cys) c.7166A>G (p.Tyr2389Cys) c.7118A>G (p.Tyr2373Cys) c.7079A>G (p.Tyr2360Cys) c.7004A>G (p.Tyr2335Cys) n.8875A>G c.7193A>G (p.Tyr2398Cys) c.7163A>G (p.Tyr2388Cys) c.7115A>G (p.Tyr2372Cys) c.7082A>G (p.Tyr2361Cys) c.7052A>G (p.Tyr2351Cys) c.7049A>G (p.Tyr2350Cys) c.7001A>G (p.Tyr2334Cys) c.6965A>G (p.Tyr2322Cys) c.6962A>G (p.Tyr2321Cys) c.6917A>G (p.Tyr2306Cys) n.7582A>G | |
X | g.77508547T>G | CA413704762 | ATRX | c.7283A>C (p.Tyr2428Ser) c.2381A>C (p.Tyr794Ser) c.7169A>C (p.Tyr2390Ser) c.*6911A>C (n.*6911A>C) n.5603A>C n.514A>C c.7280A>C (p.Tyr2427Ser) c.7196A>C (p.Tyr2399Ser) c.7166A>C (p.Tyr2389Ser) c.7118A>C (p.Tyr2373Ser) c.7079A>C (p.Tyr2360Ser) c.7004A>C (p.Tyr2335Ser) n.8875A>C c.7193A>C (p.Tyr2398Ser) c.7163A>C (p.Tyr2388Ser) c.7115A>C (p.Tyr2372Ser) c.7082A>C (p.Tyr2361Ser) c.7052A>C (p.Tyr2351Ser) c.7049A>C (p.Tyr2350Ser) c.7001A>C (p.Tyr2334Ser) c.6965A>C (p.Tyr2322Ser) c.6962A>C (p.Tyr2321Ser) c.6917A>C (p.Tyr2306Ser) n.7582A>C | |
X | g.77508548A>C | CA413704766 | ATRX | c.7282T>G (p.Tyr2428Asp) c.2380T>G (p.Tyr794Asp) c.7168T>G (p.Tyr2390Asp) c.*6910T>G (n.*6910T>G) n.5602T>G n.513T>G c.7279T>G (p.Tyr2427Asp) c.7195T>G (p.Tyr2399Asp) c.7165T>G (p.Tyr2389Asp) c.7117T>G (p.Tyr2373Asp) c.7078T>G (p.Tyr2360Asp) c.7003T>G (p.Tyr2335Asp) n.8874T>G c.7192T>G (p.Tyr2398Asp) c.7162T>G (p.Tyr2388Asp) c.7114T>G (p.Tyr2372Asp) c.7081T>G (p.Tyr2361Asp) c.7051T>G (p.Tyr2351Asp) c.7048T>G (p.Tyr2350Asp) c.7000T>G (p.Tyr2334Asp) c.6964T>G (p.Tyr2322Asp) c.6961T>G (p.Tyr2321Asp) c.6916T>G (p.Tyr2306Asp) n.7581T>G | |
X | g.77508548A>G | CA413704768 | ATRX | c.7282T>C (p.Tyr2428His) c.2380T>C (p.Tyr794His) c.7168T>C (p.Tyr2390His) c.*6910T>C (n.*6910T>C) n.5602T>C n.513T>C c.7279T>C (p.Tyr2427His) c.7195T>C (p.Tyr2399His) c.7165T>C (p.Tyr2389His) c.7117T>C (p.Tyr2373His) c.7078T>C (p.Tyr2360His) c.7003T>C (p.Tyr2335His) n.8874T>C c.7192T>C (p.Tyr2398His) c.7162T>C (p.Tyr2388His) c.7114T>C (p.Tyr2372His) c.7081T>C (p.Tyr2361His) c.7051T>C (p.Tyr2351His) c.7048T>C (p.Tyr2350His) c.7000T>C (p.Tyr2334His) c.6964T>C (p.Tyr2322His) c.6961T>C (p.Tyr2321His) c.6916T>C (p.Tyr2306His) n.7581T>C | |
X | g.77508548A>T | CA413704771 | ATRX | c.7282T>A (p.Tyr2428Asn) c.2380T>A (p.Tyr794Asn) c.7168T>A (p.Tyr2390Asn) c.*6910T>A (n.*6910T>A) n.5602T>A n.513T>A c.7279T>A (p.Tyr2427Asn) c.7195T>A (p.Tyr2399Asn) c.7165T>A (p.Tyr2389Asn) c.7117T>A (p.Tyr2373Asn) c.7078T>A (p.Tyr2360Asn) c.7003T>A (p.Tyr2335Asn) n.8874T>A c.7192T>A (p.Tyr2398Asn) c.7162T>A (p.Tyr2388Asn) c.7114T>A (p.Tyr2372Asn) c.7081T>A (p.Tyr2361Asn) c.7051T>A (p.Tyr2351Asn) c.7048T>A (p.Tyr2350Asn) c.7000T>A (p.Tyr2334Asn) c.6964T>A (p.Tyr2322Asn) c.6961T>A (p.Tyr2321Asn) c.6916T>A (p.Tyr2306Asn) n.7581T>A | |
X | g.77508549A>C | CA517374165 | ATRX | c.7281T>G (p.Thr2427=) c.2379T>G (p.Thr793=) c.7167T>G (p.Thr2389=) c.*6909T>G (n.*6909T>G) n.5601T>G n.512T>G c.7278T>G (p.Thr2426=) c.7194T>G (p.Thr2398=) c.7164T>G (p.Thr2388=) c.7116T>G (p.Thr2372=) c.7077T>G (p.Thr2359=) c.7002T>G (p.Thr2334=) n.8873T>G c.7191T>G (p.Thr2397=) c.7161T>G (p.Thr2387=) c.7113T>G (p.Thr2371=) c.7080T>G (p.Thr2360=) c.7050T>G (p.Thr2350=) c.7047T>G (p.Thr2349=) c.6999T>G (p.Thr2333=) c.6963T>G (p.Thr2321=) c.6960T>G (p.Thr2320=) c.6915T>G (p.Thr2305=) n.7580T>G | |
X | g.77508549A>G | CA517374166 | ATRX | c.7281T>C (p.Thr2427=) c.2379T>C (p.Thr793=) c.7167T>C (p.Thr2389=) c.*6909T>C (n.*6909T>C) n.5601T>C n.512T>C c.7278T>C (p.Thr2426=) c.7194T>C (p.Thr2398=) c.7164T>C (p.Thr2388=) c.7116T>C (p.Thr2372=) c.7077T>C (p.Thr2359=) c.7002T>C (p.Thr2334=) n.8873T>C c.7191T>C (p.Thr2397=) c.7161T>C (p.Thr2387=) c.7113T>C (p.Thr2371=) c.7080T>C (p.Thr2360=) c.7050T>C (p.Thr2350=) c.7047T>C (p.Thr2349=) c.6999T>C (p.Thr2333=) c.6963T>C (p.Thr2321=) c.6960T>C (p.Thr2320=) c.6915T>C (p.Thr2305=) n.7580T>C | |
X | g.77508549A>T | CA517374167 | ATRX | c.7281T>A (p.Thr2427=) c.2379T>A (p.Thr793=) c.7167T>A (p.Thr2389=) c.*6909T>A (n.*6909T>A) n.5601T>A n.512T>A c.7278T>A (p.Thr2426=) c.7194T>A (p.Thr2398=) c.7164T>A (p.Thr2388=) c.7116T>A (p.Thr2372=) c.7077T>A (p.Thr2359=) c.7002T>A (p.Thr2334=) n.8873T>A c.7191T>A (p.Thr2397=) c.7161T>A (p.Thr2387=) c.7113T>A (p.Thr2371=) c.7080T>A (p.Thr2360=) c.7050T>A (p.Thr2350=) c.7047T>A (p.Thr2349=) c.6999T>A (p.Thr2333=) c.6963T>A (p.Thr2321=) c.6960T>A (p.Thr2320=) c.6915T>A (p.Thr2305=) n.7580T>A | dbSNP |
X | g.77508550G>A | CA413704773 | ATRX | c.7280C>T (p.Thr2427Ile) c.2378C>T (p.Thr793Ile) c.7166C>T (p.Thr2389Ile) c.*6908C>T (n.*6908C>T) n.5600C>T n.511C>T c.7277C>T (p.Thr2426Ile) c.7193C>T (p.Thr2398Ile) c.7163C>T (p.Thr2388Ile) c.7115C>T (p.Thr2372Ile) c.7076C>T (p.Thr2359Ile) c.7001C>T (p.Thr2334Ile) n.8872C>T c.7190C>T (p.Thr2397Ile) c.7160C>T (p.Thr2387Ile) c.7112C>T (p.Thr2371Ile) c.7079C>T (p.Thr2360Ile) c.7049C>T (p.Thr2350Ile) c.7046C>T (p.Thr2349Ile) c.6998C>T (p.Thr2333Ile) c.6962C>T (p.Thr2321Ile) c.6959C>T (p.Thr2320Ile) c.6914C>T (p.Thr2305Ile) n.7579C>T | |
X | g.77508550G>C | CA413704776 | ATRX | c.7280C>G (p.Thr2427Ser) c.2378C>G (p.Thr793Ser) c.7166C>G (p.Thr2389Ser) c.*6908C>G (n.*6908C>G) n.5600C>G n.511C>G c.7277C>G (p.Thr2426Ser) c.7193C>G (p.Thr2398Ser) c.7163C>G (p.Thr2388Ser) c.7115C>G (p.Thr2372Ser) c.7076C>G (p.Thr2359Ser) c.7001C>G (p.Thr2334Ser) n.8872C>G c.7190C>G (p.Thr2397Ser) c.7160C>G (p.Thr2387Ser) c.7112C>G (p.Thr2371Ser) c.7079C>G (p.Thr2360Ser) c.7049C>G (p.Thr2350Ser) c.7046C>G (p.Thr2349Ser) c.6998C>G (p.Thr2333Ser) c.6962C>G (p.Thr2321Ser) c.6959C>G (p.Thr2320Ser) c.6914C>G (p.Thr2305Ser) n.7579C>G | dbSNP |
X | g.77508550G>T | CA413704780 | ATRX | c.7280C>A (p.Thr2427Asn) c.2378C>A (p.Thr793Asn) c.7166C>A (p.Thr2389Asn) c.*6908C>A (n.*6908C>A) n.5600C>A n.511C>A c.7277C>A (p.Thr2426Asn) c.7193C>A (p.Thr2398Asn) c.7163C>A (p.Thr2388Asn) c.7115C>A (p.Thr2372Asn) c.7076C>A (p.Thr2359Asn) c.7001C>A (p.Thr2334Asn) n.8872C>A c.7190C>A (p.Thr2397Asn) c.7160C>A (p.Thr2387Asn) c.7112C>A (p.Thr2371Asn) c.7079C>A (p.Thr2360Asn) c.7049C>A (p.Thr2350Asn) c.7046C>A (p.Thr2349Asn) c.6998C>A (p.Thr2333Asn) c.6962C>A (p.Thr2321Asn) c.6959C>A (p.Thr2320Asn) c.6914C>A (p.Thr2305Asn) n.7579C>A | |
X | g.77508551T>A | CA413704784 | ATRX | c.7279A>T (p.Thr2427Ser) c.2377A>T (p.Thr793Ser) c.7165A>T (p.Thr2389Ser) c.*6907A>T (n.*6907A>T) n.5599A>T n.510A>T c.7276A>T (p.Thr2426Ser) c.7192A>T (p.Thr2398Ser) c.7162A>T (p.Thr2388Ser) c.7114A>T (p.Thr2372Ser) c.7075A>T (p.Thr2359Ser) c.7000A>T (p.Thr2334Ser) n.8871A>T c.7189A>T (p.Thr2397Ser) c.7159A>T (p.Thr2387Ser) c.7111A>T (p.Thr2371Ser) c.7078A>T (p.Thr2360Ser) c.7048A>T (p.Thr2350Ser) c.7045A>T (p.Thr2349Ser) c.6997A>T (p.Thr2333Ser) c.6961A>T (p.Thr2321Ser) c.6958A>T (p.Thr2320Ser) c.6913A>T (p.Thr2305Ser) n.7578A>T | dbSNP |
X | g.77508551T>C | CA413704786 | ATRX | c.7279A>G (p.Thr2427Ala) c.2377A>G (p.Thr793Ala) c.7165A>G (p.Thr2389Ala) c.*6907A>G (n.*6907A>G) n.5599A>G n.510A>G c.7276A>G (p.Thr2426Ala) c.7192A>G (p.Thr2398Ala) c.7162A>G (p.Thr2388Ala) c.7114A>G (p.Thr2372Ala) c.7075A>G (p.Thr2359Ala) c.7000A>G (p.Thr2334Ala) n.8871A>G c.7189A>G (p.Thr2397Ala) c.7159A>G (p.Thr2387Ala) c.7111A>G (p.Thr2371Ala) c.7078A>G (p.Thr2360Ala) c.7048A>G (p.Thr2350Ala) c.7045A>G (p.Thr2349Ala) c.6997A>G (p.Thr2333Ala) c.6961A>G (p.Thr2321Ala) c.6958A>G (p.Thr2320Ala) c.6913A>G (p.Thr2305Ala) n.7578A>G | |
X | g.77508551T>G | CA413704789 | ATRX | c.7279A>C (p.Thr2427Pro) c.2377A>C (p.Thr793Pro) c.7165A>C (p.Thr2389Pro) c.*6907A>C (n.*6907A>C) n.5599A>C n.510A>C c.7276A>C (p.Thr2426Pro) c.7192A>C (p.Thr2398Pro) c.7162A>C (p.Thr2388Pro) c.7114A>C (p.Thr2372Pro) c.7075A>C (p.Thr2359Pro) c.7000A>C (p.Thr2334Pro) n.8871A>C c.7189A>C (p.Thr2397Pro) c.7159A>C (p.Thr2387Pro) c.7111A>C (p.Thr2371Pro) c.7078A>C (p.Thr2360Pro) c.7048A>C (p.Thr2350Pro) c.7045A>C (p.Thr2349Pro) c.6997A>C (p.Thr2333Pro) c.6961A>C (p.Thr2321Pro) c.6958A>C (p.Thr2320Pro) c.6913A>C (p.Thr2305Pro) n.7578A>C | dbSNP |
X | g.77508552C>A | CA413704797 | ATRX | c.7278G>T (p.Met2426Ile) c.2376G>T (p.Met792Ile) c.7164G>T (p.Met2388Ile) c.*6906G>T (n.*6906G>T) n.5598G>T n.509G>T c.7275G>T (p.Met2425Ile) c.7191G>T (p.Met2397Ile) c.7161G>T (p.Met2387Ile) c.7113G>T (p.Met2371Ile) c.7074G>T (p.Met2358Ile) c.6999G>T (p.Met2333Ile) n.8870G>T c.7188G>T (p.Met2396Ile) c.7158G>T (p.Met2386Ile) c.7110G>T (p.Met2370Ile) c.7077G>T (p.Met2359Ile) c.7047G>T (p.Met2349Ile) c.7044G>T (p.Met2348Ile) c.6996G>T (p.Met2332Ile) c.6960G>T (p.Met2320Ile) c.6957G>T (p.Met2319Ile) c.6912G>T (p.Met2304Ile) n.7577G>T | |
X | g.77508552C= | CA2438929067 | ATRX | c.7278G= (p.Met2426=) c.2376G= (p.Met792=) c.7164G= (p.Met2388=) c.*6906G= (n.*6906G=) n.5598G= n.509G= c.7275G= (p.Met2425=) c.7191G= (p.Met2397=) c.7161G= (p.Met2387=) c.7113G= (p.Met2371=) c.7074G= (p.Met2358=) c.6999G= (p.Met2333=) n.8870G= c.7188G= (p.Met2396=) c.7158G= (p.Met2386=) c.7110G= (p.Met2370=) c.7077G= (p.Met2359=) c.7047G= (p.Met2349=) c.7044G= (p.Met2348=) c.6996G= (p.Met2332=) c.6960G= (p.Met2320=) c.6957G= (p.Met2319=) c.6912G= (p.Met2304=) n.7577G= | |
X | g.77508552C>G | CA413704800 | ATRX | c.7278G>C (p.Met2426Ile) c.2376G>C (p.Met792Ile) c.7164G>C (p.Met2388Ile) c.*6906G>C (n.*6906G>C) n.5598G>C n.509G>C c.7275G>C (p.Met2425Ile) c.7191G>C (p.Met2397Ile) c.7161G>C (p.Met2387Ile) c.7113G>C (p.Met2371Ile) c.7074G>C (p.Met2358Ile) c.6999G>C (p.Met2333Ile) n.8870G>C c.7188G>C (p.Met2396Ile) c.7158G>C (p.Met2386Ile) c.7110G>C (p.Met2370Ile) c.7077G>C (p.Met2359Ile) c.7047G>C (p.Met2349Ile) c.7044G>C (p.Met2348Ile) c.6996G>C (p.Met2332Ile) c.6960G>C (p.Met2320Ile) c.6957G>C (p.Met2319Ile) c.6912G>C (p.Met2304Ile) n.7577G>C | dbSNP |
X | g.77508552C>T | CA413704794 | ATRX | c.7278G>A (p.Met2426Ile) c.2376G>A (p.Met792Ile) c.7164G>A (p.Met2388Ile) c.*6906G>A (n.*6906G>A) n.5598G>A n.509G>A c.7275G>A (p.Met2425Ile) c.7191G>A (p.Met2397Ile) c.7161G>A (p.Met2387Ile) c.7113G>A (p.Met2371Ile) c.7074G>A (p.Met2358Ile) c.6999G>A (p.Met2333Ile) n.8870G>A c.7188G>A (p.Met2396Ile) c.7158G>A (p.Met2386Ile) c.7110G>A (p.Met2370Ile) c.7077G>A (p.Met2359Ile) c.7047G>A (p.Met2349Ile) c.7044G>A (p.Met2348Ile) c.6996G>A (p.Met2332Ile) c.6960G>A (p.Met2320Ile) c.6957G>A (p.Met2319Ile) c.6912G>A (p.Met2304Ile) n.7577G>A | ClinVar dbSNP |
X | g.77508553A= | CA2438929068 | ATRX | c.7277T= (p.Met2426=) c.2375T= (p.Met792=) c.7163T= (p.Met2388=) c.*6905T= (n.*6905T=) n.5597T= n.508T= c.7274T= (p.Met2425=) c.7190T= (p.Met2397=) c.7160T= (p.Met2387=) c.7112T= (p.Met2371=) c.7073T= (p.Met2358=) c.6998T= (p.Met2333=) n.8869T= c.7187T= (p.Met2396=) c.7157T= (p.Met2386=) c.7109T= (p.Met2370=) c.7076T= (p.Met2359=) c.7046T= (p.Met2349=) c.7043T= (p.Met2348=) c.6995T= (p.Met2332=) c.6959T= (p.Met2320=) c.6956T= (p.Met2319=) c.6911T= (p.Met2304=) n.7576T= | |
X | g.77508553A>C | CA413704804 | ATRX | c.7277T>G (p.Met2426Arg) c.2375T>G (p.Met792Arg) c.7163T>G (p.Met2388Arg) c.*6905T>G (n.*6905T>G) n.5597T>G n.508T>G c.7274T>G (p.Met2425Arg) c.7190T>G (p.Met2397Arg) c.7160T>G (p.Met2387Arg) c.7112T>G (p.Met2371Arg) c.7073T>G (p.Met2358Arg) c.6998T>G (p.Met2333Arg) n.8869T>G c.7187T>G (p.Met2396Arg) c.7157T>G (p.Met2386Arg) c.7109T>G (p.Met2370Arg) c.7076T>G (p.Met2359Arg) c.7046T>G (p.Met2349Arg) c.7043T>G (p.Met2348Arg) c.6995T>G (p.Met2332Arg) c.6959T>G (p.Met2320Arg) c.6956T>G (p.Met2319Arg) c.6911T>G (p.Met2304Arg) n.7576T>G | |
X | g.77508553A>G | CA413704806 | ATRX | c.7277T>C (p.Met2426Thr) c.2375T>C (p.Met792Thr) c.7163T>C (p.Met2388Thr) c.*6905T>C (n.*6905T>C) n.5597T>C n.508T>C c.7274T>C (p.Met2425Thr) c.7190T>C (p.Met2397Thr) c.7160T>C (p.Met2387Thr) c.7112T>C (p.Met2371Thr) c.7073T>C (p.Met2358Thr) c.6998T>C (p.Met2333Thr) n.8869T>C c.7187T>C (p.Met2396Thr) c.7157T>C (p.Met2386Thr) c.7109T>C (p.Met2370Thr) c.7076T>C (p.Met2359Thr) c.7046T>C (p.Met2349Thr) c.7043T>C (p.Met2348Thr) c.6995T>C (p.Met2332Thr) c.6959T>C (p.Met2320Thr) c.6956T>C (p.Met2319Thr) c.6911T>C (p.Met2304Thr) n.7576T>C | dbSNP gnomAD v3 gnomAD v4 |
X | g.77508553A>T | CA413704809 | ATRX | c.7277T>A (p.Met2426Lys) c.2375T>A (p.Met792Lys) c.7163T>A (p.Met2388Lys) c.*6905T>A (n.*6905T>A) n.5597T>A n.508T>A c.7274T>A (p.Met2425Lys) c.7190T>A (p.Met2397Lys) c.7160T>A (p.Met2387Lys) c.7112T>A (p.Met2371Lys) c.7073T>A (p.Met2358Lys) c.6998T>A (p.Met2333Lys) n.8869T>A c.7187T>A (p.Met2396Lys) c.7157T>A (p.Met2386Lys) c.7109T>A (p.Met2370Lys) c.7076T>A (p.Met2359Lys) c.7046T>A (p.Met2349Lys) c.7043T>A (p.Met2348Lys) c.6995T>A (p.Met2332Lys) c.6959T>A (p.Met2320Lys) c.6956T>A (p.Met2319Lys) c.6911T>A (p.Met2304Lys) n.7576T>A | dbSNP |
X | g.77508554T>A | CA413704815 | ATRX | c.7276A>T (p.Met2426Leu) c.2374A>T (p.Met792Leu) c.7162A>T (p.Met2388Leu) c.*6904A>T (n.*6904A>T) n.5596A>T n.507A>T c.7273A>T (p.Met2425Leu) c.7189A>T (p.Met2397Leu) c.7159A>T (p.Met2387Leu) c.7111A>T (p.Met2371Leu) c.7072A>T (p.Met2358Leu) c.6997A>T (p.Met2333Leu) n.8868A>T c.7186A>T (p.Met2396Leu) c.7156A>T (p.Met2386Leu) c.7108A>T (p.Met2370Leu) c.7075A>T (p.Met2359Leu) c.7045A>T (p.Met2349Leu) c.7042A>T (p.Met2348Leu) c.6994A>T (p.Met2332Leu) c.6958A>T (p.Met2320Leu) c.6955A>T (p.Met2319Leu) c.6910A>T (p.Met2304Leu) n.7575A>T | |
X | g.77508554T>C | CA413704817 | ATRX | c.7276A>G (p.Met2426Val) c.2374A>G (p.Met792Val) c.7162A>G (p.Met2388Val) c.*6904A>G (n.*6904A>G) n.5596A>G n.507A>G c.7273A>G (p.Met2425Val) c.7189A>G (p.Met2397Val) c.7159A>G (p.Met2387Val) c.7111A>G (p.Met2371Val) c.7072A>G (p.Met2358Val) c.6997A>G (p.Met2333Val) n.8868A>G c.7186A>G (p.Met2396Val) c.7156A>G (p.Met2386Val) c.7108A>G (p.Met2370Val) c.7075A>G (p.Met2359Val) c.7045A>G (p.Met2349Val) c.7042A>G (p.Met2348Val) c.6994A>G (p.Met2332Val) c.6958A>G (p.Met2320Val) c.6955A>G (p.Met2319Val) c.6910A>G (p.Met2304Val) n.7575A>G | gnomAD v4 |
X | g.77508554T>G | CA413704825 | ATRX | c.7276A>C (p.Met2426Leu) c.2374A>C (p.Met792Leu) c.7162A>C (p.Met2388Leu) c.*6904A>C (n.*6904A>C) n.5596A>C n.507A>C c.7273A>C (p.Met2425Leu) c.7189A>C (p.Met2397Leu) c.7159A>C (p.Met2387Leu) c.7111A>C (p.Met2371Leu) c.7072A>C (p.Met2358Leu) c.6997A>C (p.Met2333Leu) n.8868A>C c.7186A>C (p.Met2396Leu) c.7156A>C (p.Met2386Leu) c.7108A>C (p.Met2370Leu) c.7075A>C (p.Met2359Leu) c.7045A>C (p.Met2349Leu) c.7042A>C (p.Met2348Leu) c.6994A>C (p.Met2332Leu) c.6958A>C (p.Met2320Leu) c.6955A>C (p.Met2319Leu) c.6910A>C (p.Met2304Leu) n.7575A>C | |
X | g.77508555T>A | CA413704828 | ATRX | c.7275A>T (p.Gln2425His) c.2373A>T (p.Gln791His) c.7161A>T (p.Gln2387His) c.*6903A>T (n.*6903A>T) n.5595A>T n.506A>T c.7272A>T (p.Gln2424His) c.7188A>T (p.Gln2396His) c.7158A>T (p.Gln2386His) c.7110A>T (p.Gln2370His) c.7071A>T (p.Gln2357His) c.6996A>T (p.Gln2332His) n.8867A>T c.7185A>T (p.Gln2395His) c.7155A>T (p.Gln2385His) c.7107A>T (p.Gln2369His) c.7074A>T (p.Gln2358His) c.7044A>T (p.Gln2348His) c.7041A>T (p.Gln2347His) c.6993A>T (p.Gln2331His) c.6957A>T (p.Gln2319His) c.6954A>T (p.Gln2318His) c.6909A>T (p.Gln2303His) n.7574A>T | |
X | g.77508555T>C | CA517374171 | ATRX | c.7275A>G (p.Gln2425=) c.2373A>G (p.Gln791=) c.7161A>G (p.Gln2387=) c.*6903A>G (n.*6903A>G) n.5595A>G n.506A>G c.7272A>G (p.Gln2424=) c.7188A>G (p.Gln2396=) c.7158A>G (p.Gln2386=) c.7110A>G (p.Gln2370=) c.7071A>G (p.Gln2357=) c.6996A>G (p.Gln2332=) n.8867A>G c.7185A>G (p.Gln2395=) c.7155A>G (p.Gln2385=) c.7107A>G (p.Gln2369=) c.7074A>G (p.Gln2358=) c.7044A>G (p.Gln2348=) c.7041A>G (p.Gln2347=) c.6993A>G (p.Gln2331=) c.6957A>G (p.Gln2319=) c.6954A>G (p.Gln2318=) c.6909A>G (p.Gln2303=) n.7574A>G | |
X | g.77508555T>G | CA413704831 | ATRX | c.7275A>C (p.Gln2425His) c.2373A>C (p.Gln791His) c.7161A>C (p.Gln2387His) c.*6903A>C (n.*6903A>C) n.5595A>C n.506A>C c.7272A>C (p.Gln2424His) c.7188A>C (p.Gln2396His) c.7158A>C (p.Gln2386His) c.7110A>C (p.Gln2370His) c.7071A>C (p.Gln2357His) c.6996A>C (p.Gln2332His) n.8867A>C c.7185A>C (p.Gln2395His) c.7155A>C (p.Gln2385His) c.7107A>C (p.Gln2369His) c.7074A>C (p.Gln2358His) c.7044A>C (p.Gln2348His) c.7041A>C (p.Gln2347His) c.6993A>C (p.Gln2331His) c.6957A>C (p.Gln2319His) c.6954A>C (p.Gln2318His) c.6909A>C (p.Gln2303His) n.7574A>C | |
X | g.77508556T>A | CA413704835 | ATRX | c.7274A>T (p.Gln2425Leu) c.2372A>T (p.Gln791Leu) c.7160A>T (p.Gln2387Leu) c.*6902A>T (n.*6902A>T) n.5594A>T n.505A>T c.7271A>T (p.Gln2424Leu) c.7187A>T (p.Gln2396Leu) c.7157A>T (p.Gln2386Leu) c.7109A>T (p.Gln2370Leu) c.7070A>T (p.Gln2357Leu) c.6995A>T (p.Gln2332Leu) n.8866A>T c.7184A>T (p.Gln2395Leu) c.7154A>T (p.Gln2385Leu) c.7106A>T (p.Gln2369Leu) c.7073A>T (p.Gln2358Leu) c.7043A>T (p.Gln2348Leu) c.7040A>T (p.Gln2347Leu) c.6992A>T (p.Gln2331Leu) c.6956A>T (p.Gln2319Leu) c.6953A>T (p.Gln2318Leu) c.6908A>T (p.Gln2303Leu) n.7573A>T | |
X | g.77508556T>C | CA413704838 | ATRX | c.7274A>G (p.Gln2425Arg) c.2372A>G (p.Gln791Arg) c.7160A>G (p.Gln2387Arg) c.*6902A>G (n.*6902A>G) n.5594A>G n.505A>G c.7271A>G (p.Gln2424Arg) c.7187A>G (p.Gln2396Arg) c.7157A>G (p.Gln2386Arg) c.7109A>G (p.Gln2370Arg) c.7070A>G (p.Gln2357Arg) c.6995A>G (p.Gln2332Arg) n.8866A>G c.7184A>G (p.Gln2395Arg) c.7154A>G (p.Gln2385Arg) c.7106A>G (p.Gln2369Arg) c.7073A>G (p.Gln2358Arg) c.7043A>G (p.Gln2348Arg) c.7040A>G (p.Gln2347Arg) c.6992A>G (p.Gln2331Arg) c.6956A>G (p.Gln2319Arg) c.6953A>G (p.Gln2318Arg) c.6908A>G (p.Gln2303Arg) n.7573A>G | |
X | g.77508556T>G | CA413704843 | ATRX | c.7274A>C (p.Gln2425Pro) c.2372A>C (p.Gln791Pro) c.7160A>C (p.Gln2387Pro) c.*6902A>C (n.*6902A>C) n.5594A>C n.505A>C c.7271A>C (p.Gln2424Pro) c.7187A>C (p.Gln2396Pro) c.7157A>C (p.Gln2386Pro) c.7109A>C (p.Gln2370Pro) c.7070A>C (p.Gln2357Pro) c.6995A>C (p.Gln2332Pro) n.8866A>C c.7184A>C (p.Gln2395Pro) c.7154A>C (p.Gln2385Pro) c.7106A>C (p.Gln2369Pro) c.7073A>C (p.Gln2358Pro) c.7043A>C (p.Gln2348Pro) c.7040A>C (p.Gln2347Pro) c.6992A>C (p.Gln2331Pro) c.6956A>C (p.Gln2319Pro) c.6953A>C (p.Gln2318Pro) c.6908A>C (p.Gln2303Pro) n.7573A>C | |
X | g.77508564_77508569del | CA2580612368 | ATRX | c.7269_7274del (p.Gln2424_Gln2425del) c.2367_2372del (p.Gln790_Gln791del) c.7155_7160del (p.Gln2386_Gln2387del) c.*6897_*6902del (n.*6897_*6902del) n.5589_5594del n.500_505del c.7266_7271del (p.Gln2423_Gln2424del) c.7182_7187del (p.Gln2395_Gln2396del) c.7152_7157del (p.Gln2385_Gln2386del) c.7104_7109del (p.Gln2369_Gln2370del) c.7065_7070del (p.Gln2356_Gln2357del) c.6990_6995del (p.Gln2331_Gln2332del) n.8861_8866del c.7179_7184del (p.Gln2394_Gln2395del) c.7149_7154del (p.Gln2384_Gln2385del) c.7101_7106del (p.Gln2368_Gln2369del) c.7068_7073del (p.Gln2357_Gln2358del) c.7038_7043del (p.Gln2347_Gln2348del) c.7035_7040del (p.Gln2346_Gln2347del) c.6987_6992del (p.Gln2330_Gln2331del) c.6951_6956del (p.Gln2318_Gln2319del) c.6948_6953del (p.Gln2317_Gln2318del) c.6903_6908del (p.Gln2302_Gln2303del) n.7568_7573del | ClinVar dbSNP gnomAD v4 |
X | g.77508557G>A | CA413704845 | ATRX | c.7273C>T (p.Gln2425Ter) c.2371C>T (p.Gln791Ter) c.7159C>T (p.Gln2387Ter) c.*6901C>T (n.*6901C>T) n.5593C>T n.504C>T c.7270C>T (p.Gln2424Ter) c.7186C>T (p.Gln2396Ter) c.7156C>T (p.Gln2386Ter) c.7108C>T (p.Gln2370Ter) c.7069C>T (p.Gln2357Ter) c.6994C>T (p.Gln2332Ter) n.8865C>T c.7183C>T (p.Gln2395Ter) c.7153C>T (p.Gln2385Ter) c.7105C>T (p.Gln2369Ter) c.7072C>T (p.Gln2358Ter) c.7042C>T (p.Gln2348Ter) c.7039C>T (p.Gln2347Ter) c.6991C>T (p.Gln2331Ter) c.6955C>T (p.Gln2319Ter) c.6952C>T (p.Gln2318Ter) c.6907C>T (p.Gln2303Ter) n.7572C>T | |
X | g.77508557G>C | CA413704847 | ATRX | c.7273C>G (p.Gln2425Glu) c.2371C>G (p.Gln791Glu) c.7159C>G (p.Gln2387Glu) c.*6901C>G (n.*6901C>G) n.5593C>G n.504C>G c.7270C>G (p.Gln2424Glu) c.7186C>G (p.Gln2396Glu) c.7156C>G (p.Gln2386Glu) c.7108C>G (p.Gln2370Glu) c.7069C>G (p.Gln2357Glu) c.6994C>G (p.Gln2332Glu) n.8865C>G c.7183C>G (p.Gln2395Glu) c.7153C>G (p.Gln2385Glu) c.7105C>G (p.Gln2369Glu) c.7072C>G (p.Gln2358Glu) c.7042C>G (p.Gln2348Glu) c.7039C>G (p.Gln2347Glu) c.6991C>G (p.Gln2331Glu) c.6955C>G (p.Gln2319Glu) c.6952C>G (p.Gln2318Glu) c.6907C>G (p.Gln2303Glu) n.7572C>G | dbSNP |
X | g.77508557G>T | CA413704851 | ATRX | c.7273C>A (p.Gln2425Lys) c.2371C>A (p.Gln791Lys) c.7159C>A (p.Gln2387Lys) c.*6901C>A (n.*6901C>A) n.5593C>A n.504C>A c.7270C>A (p.Gln2424Lys) c.7186C>A (p.Gln2396Lys) c.7156C>A (p.Gln2386Lys) c.7108C>A (p.Gln2370Lys) c.7069C>A (p.Gln2357Lys) c.6994C>A (p.Gln2332Lys) n.8865C>A c.7183C>A (p.Gln2395Lys) c.7153C>A (p.Gln2385Lys) c.7105C>A (p.Gln2369Lys) c.7072C>A (p.Gln2358Lys) c.7042C>A (p.Gln2348Lys) c.7039C>A (p.Gln2347Lys) c.6991C>A (p.Gln2331Lys) c.6955C>A (p.Gln2319Lys) c.6952C>A (p.Gln2318Lys) c.6907C>A (p.Gln2303Lys) n.7572C>A | |
X | g.77508558T>A | CA413704854 | ATRX | c.7272A>T (p.Gln2424His) c.2370A>T (p.Gln790His) c.7158A>T (p.Gln2386His) c.*6900A>T (n.*6900A>T) n.5592A>T n.503A>T c.7269A>T (p.Gln2423His) c.7185A>T (p.Gln2395His) c.7155A>T (p.Gln2385His) c.7107A>T (p.Gln2369His) c.7068A>T (p.Gln2356His) c.6993A>T (p.Gln2331His) n.8864A>T c.7182A>T (p.Gln2394His) c.7152A>T (p.Gln2384His) c.7104A>T (p.Gln2368His) c.7071A>T (p.Gln2357His) c.7041A>T (p.Gln2347His) c.7038A>T (p.Gln2346His) c.6990A>T (p.Gln2330His) c.6954A>T (p.Gln2318His) c.6951A>T (p.Gln2317His) c.6906A>T (p.Gln2302His) n.7571A>T | |
X | g.77508558T>C | CA517374175 | ATRX | c.7272A>G (p.Gln2424=) c.2370A>G (p.Gln790=) c.7158A>G (p.Gln2386=) c.*6900A>G (n.*6900A>G) n.5592A>G n.503A>G c.7269A>G (p.Gln2423=) c.7185A>G (p.Gln2395=) c.7155A>G (p.Gln2385=) c.7107A>G (p.Gln2369=) c.7068A>G (p.Gln2356=) c.6993A>G (p.Gln2331=) n.8864A>G c.7182A>G (p.Gln2394=) c.7152A>G (p.Gln2384=) c.7104A>G (p.Gln2368=) c.7071A>G (p.Gln2357=) c.7041A>G (p.Gln2347=) c.7038A>G (p.Gln2346=) c.6990A>G (p.Gln2330=) c.6954A>G (p.Gln2318=) c.6951A>G (p.Gln2317=) c.6906A>G (p.Gln2302=) n.7571A>G | |
X | g.77508558T>G | CA413704857 | ATRX | c.7272A>C (p.Gln2424His) c.2370A>C (p.Gln790His) c.7158A>C (p.Gln2386His) c.*6900A>C (n.*6900A>C) n.5592A>C n.503A>C c.7269A>C (p.Gln2423His) c.7185A>C (p.Gln2395His) c.7155A>C (p.Gln2385His) c.7107A>C (p.Gln2369His) c.7068A>C (p.Gln2356His) c.6993A>C (p.Gln2331His) n.8864A>C c.7182A>C (p.Gln2394His) c.7152A>C (p.Gln2384His) c.7104A>C (p.Gln2368His) c.7071A>C (p.Gln2357His) c.7041A>C (p.Gln2347His) c.7038A>C (p.Gln2346His) c.6990A>C (p.Gln2330His) c.6954A>C (p.Gln2318His) c.6951A>C (p.Gln2317His) c.6906A>C (p.Gln2302His) n.7571A>C | |
X | g.77508559T>A | CA413704861 | ATRX | c.7271A>T (p.Gln2424Leu) c.2369A>T (p.Gln790Leu) c.7157A>T (p.Gln2386Leu) c.*6899A>T (n.*6899A>T) n.5591A>T n.502A>T c.7268A>T (p.Gln2423Leu) c.7184A>T (p.Gln2395Leu) c.7154A>T (p.Gln2385Leu) c.7106A>T (p.Gln2369Leu) c.7067A>T (p.Gln2356Leu) c.6992A>T (p.Gln2331Leu) n.8863A>T c.7181A>T (p.Gln2394Leu) c.7151A>T (p.Gln2384Leu) c.7103A>T (p.Gln2368Leu) c.7070A>T (p.Gln2357Leu) c.7040A>T (p.Gln2347Leu) c.7037A>T (p.Gln2346Leu) c.6989A>T (p.Gln2330Leu) c.6953A>T (p.Gln2318Leu) c.6950A>T (p.Gln2317Leu) c.6905A>T (p.Gln2302Leu) n.7570A>T | |
X | g.77508559T>C | CA413704868 | ATRX | c.7271A>G (p.Gln2424Arg) c.2369A>G (p.Gln790Arg) c.7157A>G (p.Gln2386Arg) c.*6899A>G (n.*6899A>G) n.5591A>G n.502A>G c.7268A>G (p.Gln2423Arg) c.7184A>G (p.Gln2395Arg) c.7154A>G (p.Gln2385Arg) c.7106A>G (p.Gln2369Arg) c.7067A>G (p.Gln2356Arg) c.6992A>G (p.Gln2331Arg) n.8863A>G c.7181A>G (p.Gln2394Arg) c.7151A>G (p.Gln2384Arg) c.7103A>G (p.Gln2368Arg) c.7070A>G (p.Gln2357Arg) c.7040A>G (p.Gln2347Arg) c.7037A>G (p.Gln2346Arg) c.6989A>G (p.Gln2330Arg) c.6953A>G (p.Gln2318Arg) c.6950A>G (p.Gln2317Arg) c.6905A>G (p.Gln2302Arg) n.7570A>G | |
X | g.77508559T>G | CA413704865 | ATRX | c.7271A>C (p.Gln2424Pro) c.2369A>C (p.Gln790Pro) c.7157A>C (p.Gln2386Pro) c.*6899A>C (n.*6899A>C) n.5591A>C n.502A>C c.7268A>C (p.Gln2423Pro) c.7184A>C (p.Gln2395Pro) c.7154A>C (p.Gln2385Pro) c.7106A>C (p.Gln2369Pro) c.7067A>C (p.Gln2356Pro) c.6992A>C (p.Gln2331Pro) n.8863A>C c.7181A>C (p.Gln2394Pro) c.7151A>C (p.Gln2384Pro) c.7103A>C (p.Gln2368Pro) c.7070A>C (p.Gln2357Pro) c.7040A>C (p.Gln2347Pro) c.7037A>C (p.Gln2346Pro) c.6989A>C (p.Gln2330Pro) c.6953A>C (p.Gln2318Pro) c.6950A>C (p.Gln2317Pro) c.6905A>C (p.Gln2302Pro) n.7570A>C | |
X | g.77508564_77508572del | CA2738724322 | ATRX | c.7263_7271del (p.Gln2422_Gln2424del) c.2361_2369del (p.Gln788_Gln790del) c.7149_7157del (p.Gln2384_Gln2386del) c.*6891_*6899del (n.*6891_*6899del) n.5583_5591del n.494_502del c.7260_7268del (p.Gln2421_Gln2423del) c.7176_7184del (p.Gln2393_Gln2395del) c.7146_7154del (p.Gln2383_Gln2385del) c.7098_7106del (p.Gln2367_Gln2369del) c.7059_7067del (p.Gln2354_Gln2356del) c.6984_6992del (p.Gln2329_Gln2331del) n.8855_8863del c.7173_7181del (p.Gln2392_Gln2394del) c.7143_7151del (p.Gln2382_Gln2384del) c.7095_7103del (p.Gln2366_Gln2368del) c.7062_7070del (p.Gln2355_Gln2357del) c.7032_7040del (p.Gln2345_Gln2347del) c.7029_7037del (p.Gln2344_Gln2346del) c.6981_6989del (p.Gln2328_Gln2330del) c.6945_6953del (p.Gln2316_Gln2318del) c.6942_6950del (p.Gln2315_Gln2317del) c.6897_6905del (p.Gln2300_Gln2302del) n.7562_7570del | dbSNP |
X | g.77508559_77508560insTCACCATAGGCCTTAAA | CA2738724326 | ATRX | c.7270_7271insTTTAAGGCCTATGGTGA (p.Gln2424LeufsTer2) c.2368_2369insTTTAAGGCCTATGGTGA (p.Gln790LeufsTer2) c.7156_7157insTTTAAGGCCTATGGTGA (p.Gln2386LeufsTer2) c.*6898_*6899insTTTAAGGCCTATGGTGA (n.*6898_*6899insTTTAAGGCCTATGGTGA) n.5590_5591insTTTAAGGCCTATGGTGA n.501_502insTTTAAGGCCTATGGTGA c.7267_7268insTTTAAGGCCTATGGTGA (p.Gln2423LeufsTer2) c.7183_7184insTTTAAGGCCTATGGTGA (p.Gln2395LeufsTer2) c.7153_7154insTTTAAGGCCTATGGTGA (p.Gln2385LeufsTer2) c.7105_7106insTTTAAGGCCTATGGTGA (p.Gln2369LeufsTer2) c.7066_7067insTTTAAGGCCTATGGTGA (p.Gln2356LeufsTer2) c.6991_6992insTTTAAGGCCTATGGTGA (p.Gln2331LeufsTer2) n.8862_8863insTTTAAGGCCTATGGTGA c.7180_7181insTTTAAGGCCTATGGTGA (p.Gln2394LeufsTer2) c.7150_7151insTTTAAGGCCTATGGTGA (p.Gln2384LeufsTer2) c.7102_7103insTTTAAGGCCTATGGTGA (p.Gln2368LeufsTer2) c.7069_7070insTTTAAGGCCTATGGTGA (p.Gln2357LeufsTer2) c.7039_7040insTTTAAGGCCTATGGTGA (p.Gln2347LeufsTer2) c.7036_7037insTTTAAGGCCTATGGTGA (p.Gln2346LeufsTer2) c.6988_6989insTTTAAGGCCTATGGTGA (p.Gln2330LeufsTer2) c.6952_6953insTTTAAGGCCTATGGTGA (p.Gln2318LeufsTer2) c.6949_6950insTTTAAGGCCTATGGTGA (p.Gln2317LeufsTer2) c.6904_6905insTTTAAGGCCTATGGTGA (p.Gln2302LeufsTer2) n.7569_7570insTTTAAGGCCTATGGTGA | dbSNP |
X | g.77508560G>A | CA413704871 | ATRX | c.7270C>T (p.Gln2424Ter) c.2368C>T (p.Gln790Ter) c.7156C>T (p.Gln2386Ter) c.*6898C>T (n.*6898C>T) n.5590C>T n.501C>T c.7267C>T (p.Gln2423Ter) c.7183C>T (p.Gln2395Ter) c.7153C>T (p.Gln2385Ter) c.7105C>T (p.Gln2369Ter) c.7066C>T (p.Gln2356Ter) c.6991C>T (p.Gln2331Ter) n.8862C>T c.7180C>T (p.Gln2394Ter) c.7150C>T (p.Gln2384Ter) c.7102C>T (p.Gln2368Ter) c.7069C>T (p.Gln2357Ter) c.7039C>T (p.Gln2347Ter) c.7036C>T (p.Gln2346Ter) c.6988C>T (p.Gln2330Ter) c.6952C>T (p.Gln2318Ter) c.6949C>T (p.Gln2317Ter) c.6904C>T (p.Gln2302Ter) n.7569C>T | dbSNP |
X | g.77508560G>C | CA413704877 | ATRX | c.7270C>G (p.Gln2424Glu) c.2368C>G (p.Gln790Glu) c.7156C>G (p.Gln2386Glu) c.*6898C>G (n.*6898C>G) n.5590C>G n.501C>G c.7267C>G (p.Gln2423Glu) c.7183C>G (p.Gln2395Glu) c.7153C>G (p.Gln2385Glu) c.7105C>G (p.Gln2369Glu) c.7066C>G (p.Gln2356Glu) c.6991C>G (p.Gln2331Glu) n.8862C>G c.7180C>G (p.Gln2394Glu) c.7150C>G (p.Gln2384Glu) c.7102C>G (p.Gln2368Glu) c.7069C>G (p.Gln2357Glu) c.7039C>G (p.Gln2347Glu) c.7036C>G (p.Gln2346Glu) c.6988C>G (p.Gln2330Glu) c.6952C>G (p.Gln2318Glu) c.6949C>G (p.Gln2317Glu) c.6904C>G (p.Gln2302Glu) n.7569C>G | dbSNP |
X | g.77508560G>T | CA413704874 | ATRX | c.7270C>A (p.Gln2424Lys) c.2368C>A (p.Gln790Lys) c.7156C>A (p.Gln2386Lys) c.*6898C>A (n.*6898C>A) n.5590C>A n.501C>A c.7267C>A (p.Gln2423Lys) c.7183C>A (p.Gln2395Lys) c.7153C>A (p.Gln2385Lys) c.7105C>A (p.Gln2369Lys) c.7066C>A (p.Gln2356Lys) c.6991C>A (p.Gln2331Lys) n.8862C>A c.7180C>A (p.Gln2394Lys) c.7150C>A (p.Gln2384Lys) c.7102C>A (p.Gln2368Lys) c.7069C>A (p.Gln2357Lys) c.7039C>A (p.Gln2347Lys) c.7036C>A (p.Gln2346Lys) c.6988C>A (p.Gln2330Lys) c.6952C>A (p.Gln2318Lys) c.6949C>A (p.Gln2317Lys) c.6904C>A (p.Gln2302Lys) n.7569C>A | |
X | g.77508561C>A | CA413704878 | ATRX | c.7269G>T (p.Gln2423His) c.2367G>T (p.Gln789His) c.7155G>T (p.Gln2385His) c.*6897G>T (n.*6897G>T) n.5589G>T n.500G>T c.7266G>T (p.Gln2422His) c.7182G>T (p.Gln2394His) c.7152G>T (p.Gln2384His) c.7104G>T (p.Gln2368His) c.7065G>T (p.Gln2355His) c.6990G>T (p.Gln2330His) n.8861G>T c.7179G>T (p.Gln2393His) c.7149G>T (p.Gln2383His) c.7101G>T (p.Gln2367His) c.7068G>T (p.Gln2356His) c.7038G>T (p.Gln2346His) c.7035G>T (p.Gln2345His) c.6987G>T (p.Gln2329His) c.6951G>T (p.Gln2317His) c.6948G>T (p.Gln2316His) c.6903G>T (p.Gln2301His) n.7568G>T | |
X | g.77508561C>G | CA413704880 | ATRX | c.7269G>C (p.Gln2423His) c.2367G>C (p.Gln789His) c.7155G>C (p.Gln2385His) c.*6897G>C (n.*6897G>C) n.5589G>C n.500G>C c.7266G>C (p.Gln2422His) c.7182G>C (p.Gln2394His) c.7152G>C (p.Gln2384His) c.7104G>C (p.Gln2368His) c.7065G>C (p.Gln2355His) c.6990G>C (p.Gln2330His) n.8861G>C c.7179G>C (p.Gln2393His) c.7149G>C (p.Gln2383His) c.7101G>C (p.Gln2367His) c.7068G>C (p.Gln2356His) c.7038G>C (p.Gln2346His) c.7035G>C (p.Gln2345His) c.6987G>C (p.Gln2329His) c.6951G>C (p.Gln2317His) c.6948G>C (p.Gln2316His) c.6903G>C (p.Gln2301His) n.7568G>C | dbSNP |
X | g.77508561C>T | CA517374178 | ATRX | c.7269G>A (p.Gln2423=) c.2367G>A (p.Gln789=) c.7155G>A (p.Gln2385=) c.*6897G>A (n.*6897G>A) n.5589G>A n.500G>A c.7266G>A (p.Gln2422=) c.7182G>A (p.Gln2394=) c.7152G>A (p.Gln2384=) c.7104G>A (p.Gln2368=) c.7065G>A (p.Gln2355=) c.6990G>A (p.Gln2330=) n.8861G>A c.7179G>A (p.Gln2393=) c.7149G>A (p.Gln2383=) c.7101G>A (p.Gln2367=) c.7068G>A (p.Gln2356=) c.7038G>A (p.Gln2346=) c.7035G>A (p.Gln2345=) c.6987G>A (p.Gln2329=) c.6951G>A (p.Gln2317=) c.6948G>A (p.Gln2316=) c.6903G>A (p.Gln2301=) n.7568G>A | dbSNP COSMIC COSMIC |
X | g.77508562T>A | CA413704883 | ATRX | c.7268A>T (p.Gln2423Leu) c.2366A>T (p.Gln789Leu) c.7154A>T (p.Gln2385Leu) c.*6896A>T (n.*6896A>T) n.5588A>T n.499A>T c.7265A>T (p.Gln2422Leu) c.7181A>T (p.Gln2394Leu) c.7151A>T (p.Gln2384Leu) c.7103A>T (p.Gln2368Leu) c.7064A>T (p.Gln2355Leu) c.6989A>T (p.Gln2330Leu) n.8860A>T c.7178A>T (p.Gln2393Leu) c.7148A>T (p.Gln2383Leu) c.7100A>T (p.Gln2367Leu) c.7067A>T (p.Gln2356Leu) c.7037A>T (p.Gln2346Leu) c.7034A>T (p.Gln2345Leu) c.6986A>T (p.Gln2329Leu) c.6950A>T (p.Gln2317Leu) c.6947A>T (p.Gln2316Leu) c.6902A>T (p.Gln2301Leu) n.7567A>T | |
X | g.77508562T>C | CA413704884 | ATRX | c.7268A>G (p.Gln2423Arg) c.2366A>G (p.Gln789Arg) c.7154A>G (p.Gln2385Arg) c.*6896A>G (n.*6896A>G) n.5588A>G n.499A>G c.7265A>G (p.Gln2422Arg) c.7181A>G (p.Gln2394Arg) c.7151A>G (p.Gln2384Arg) c.7103A>G (p.Gln2368Arg) c.7064A>G (p.Gln2355Arg) c.6989A>G (p.Gln2330Arg) n.8860A>G c.7178A>G (p.Gln2393Arg) c.7148A>G (p.Gln2383Arg) c.7100A>G (p.Gln2367Arg) c.7067A>G (p.Gln2356Arg) c.7037A>G (p.Gln2346Arg) c.7034A>G (p.Gln2345Arg) c.6986A>G (p.Gln2329Arg) c.6950A>G (p.Gln2317Arg) c.6947A>G (p.Gln2316Arg) c.6902A>G (p.Gln2301Arg) n.7567A>G | |
X | g.77508562T>G | CA413704886 | ATRX | c.7268A>C (p.Gln2423Pro) c.2366A>C (p.Gln789Pro) c.7154A>C (p.Gln2385Pro) c.*6896A>C (n.*6896A>C) n.5588A>C n.499A>C c.7265A>C (p.Gln2422Pro) c.7181A>C (p.Gln2394Pro) c.7151A>C (p.Gln2384Pro) c.7103A>C (p.Gln2368Pro) c.7064A>C (p.Gln2355Pro) c.6989A>C (p.Gln2330Pro) n.8860A>C c.7178A>C (p.Gln2393Pro) c.7148A>C (p.Gln2383Pro) c.7100A>C (p.Gln2367Pro) c.7067A>C (p.Gln2356Pro) c.7037A>C (p.Gln2346Pro) c.7034A>C (p.Gln2345Pro) c.6986A>C (p.Gln2329Pro) c.6950A>C (p.Gln2317Pro) c.6947A>C (p.Gln2316Pro) c.6902A>C (p.Gln2301Pro) n.7567A>C | |
X | g.77508563G>A | CA413704889 | ATRX | c.7267C>T (p.Gln2423Ter) c.2365C>T (p.Gln789Ter) c.7153C>T (p.Gln2385Ter) c.*6895C>T (n.*6895C>T) n.5587C>T n.498C>T c.7264C>T (p.Gln2422Ter) c.7180C>T (p.Gln2394Ter) c.7150C>T (p.Gln2384Ter) c.7102C>T (p.Gln2368Ter) c.7063C>T (p.Gln2355Ter) c.6988C>T (p.Gln2330Ter) n.8859C>T c.7177C>T (p.Gln2393Ter) c.7147C>T (p.Gln2383Ter) c.7099C>T (p.Gln2367Ter) c.7066C>T (p.Gln2356Ter) c.7036C>T (p.Gln2346Ter) c.7033C>T (p.Gln2345Ter) c.6985C>T (p.Gln2329Ter) c.6949C>T (p.Gln2317Ter) c.6946C>T (p.Gln2316Ter) c.6901C>T (p.Gln2301Ter) n.7566C>T | dbSNP |
X | g.77508563G>C | CA413704890 | ATRX | c.7267C>G (p.Gln2423Glu) c.2365C>G (p.Gln789Glu) c.7153C>G (p.Gln2385Glu) c.*6895C>G (n.*6895C>G) n.5587C>G n.498C>G c.7264C>G (p.Gln2422Glu) c.7180C>G (p.Gln2394Glu) c.7150C>G (p.Gln2384Glu) c.7102C>G (p.Gln2368Glu) c.7063C>G (p.Gln2355Glu) c.6988C>G (p.Gln2330Glu) n.8859C>G c.7177C>G (p.Gln2393Glu) c.7147C>G (p.Gln2383Glu) c.7099C>G (p.Gln2367Glu) c.7066C>G (p.Gln2356Glu) c.7036C>G (p.Gln2346Glu) c.7033C>G (p.Gln2345Glu) c.6985C>G (p.Gln2329Glu) c.6949C>G (p.Gln2317Glu) c.6946C>G (p.Gln2316Glu) c.6901C>G (p.Gln2301Glu) n.7566C>G | |
X | g.77508563G>T | CA413704892 | ATRX | c.7267C>A (p.Gln2423Lys) c.2365C>A (p.Gln789Lys) c.7153C>A (p.Gln2385Lys) c.*6895C>A (n.*6895C>A) n.5587C>A n.498C>A c.7264C>A (p.Gln2422Lys) c.7180C>A (p.Gln2394Lys) c.7150C>A (p.Gln2384Lys) c.7102C>A (p.Gln2368Lys) c.7063C>A (p.Gln2355Lys) c.6988C>A (p.Gln2330Lys) n.8859C>A c.7177C>A (p.Gln2393Lys) c.7147C>A (p.Gln2383Lys) c.7099C>A (p.Gln2367Lys) c.7066C>A (p.Gln2356Lys) c.7036C>A (p.Gln2346Lys) c.7033C>A (p.Gln2345Lys) c.6985C>A (p.Gln2329Lys) c.6949C>A (p.Gln2317Lys) c.6946C>A (p.Gln2316Lys) c.6901C>A (p.Gln2301Lys) n.7566C>A | |
X | g.77508564T>A | CA413704895 | ATRX | c.7266A>T (p.Gln2422His) c.2364A>T (p.Gln788His) c.7152A>T (p.Gln2384His) c.*6894A>T (n.*6894A>T) n.5586A>T n.497A>T c.7263A>T (p.Gln2421His) c.7179A>T (p.Gln2393His) c.7149A>T (p.Gln2383His) c.7101A>T (p.Gln2367His) c.7062A>T (p.Gln2354His) c.6987A>T (p.Gln2329His) n.8858A>T c.7176A>T (p.Gln2392His) c.7146A>T (p.Gln2382His) c.7098A>T (p.Gln2366His) c.7065A>T (p.Gln2355His) c.7035A>T (p.Gln2345His) c.7032A>T (p.Gln2344His) c.6984A>T (p.Gln2328His) c.6948A>T (p.Gln2316His) c.6945A>T (p.Gln2315His) c.6900A>T (p.Gln2300His) n.7565A>T | dbSNP |
X | g.77508564T>C | CA517374179 | ATRX | c.7266A>G (p.Gln2422=) c.2364A>G (p.Gln788=) c.7152A>G (p.Gln2384=) c.*6894A>G (n.*6894A>G) n.5586A>G n.497A>G c.7263A>G (p.Gln2421=) c.7179A>G (p.Gln2393=) c.7149A>G (p.Gln2383=) c.7101A>G (p.Gln2367=) c.7062A>G (p.Gln2354=) c.6987A>G (p.Gln2329=) n.8858A>G c.7176A>G (p.Gln2392=) c.7146A>G (p.Gln2382=) c.7098A>G (p.Gln2366=) c.7065A>G (p.Gln2355=) c.7035A>G (p.Gln2345=) c.7032A>G (p.Gln2344=) c.6984A>G (p.Gln2328=) c.6948A>G (p.Gln2316=) c.6945A>G (p.Gln2315=) c.6900A>G (p.Gln2300=) n.7565A>G | ClinVar dbSNP |
X | g.77508564T>G | CA413704896 | ATRX | c.7266A>C (p.Gln2422His) c.2364A>C (p.Gln788His) c.7152A>C (p.Gln2384His) c.*6894A>C (n.*6894A>C) n.5586A>C n.497A>C c.7263A>C (p.Gln2421His) c.7179A>C (p.Gln2393His) c.7149A>C (p.Gln2383His) c.7101A>C (p.Gln2367His) c.7062A>C (p.Gln2354His) c.6987A>C (p.Gln2329His) n.8858A>C c.7176A>C (p.Gln2392His) c.7146A>C (p.Gln2382His) c.7098A>C (p.Gln2366His) c.7065A>C (p.Gln2355His) c.7035A>C (p.Gln2345His) c.7032A>C (p.Gln2344His) c.6984A>C (p.Gln2328His) c.6948A>C (p.Gln2316His) c.6945A>C (p.Gln2315His) c.6900A>C (p.Gln2300His) n.7565A>C | |
X | g.77508565T>A | CA413704903 | ATRX | c.7265A>T (p.Gln2422Leu) c.2363A>T (p.Gln788Leu) c.7151A>T (p.Gln2384Leu) c.*6893A>T (n.*6893A>T) n.5585A>T n.496A>T c.7262A>T (p.Gln2421Leu) c.7178A>T (p.Gln2393Leu) c.7148A>T (p.Gln2383Leu) c.7100A>T (p.Gln2367Leu) c.7061A>T (p.Gln2354Leu) c.6986A>T (p.Gln2329Leu) n.8857A>T c.7175A>T (p.Gln2392Leu) c.7145A>T (p.Gln2382Leu) c.7097A>T (p.Gln2366Leu) c.7064A>T (p.Gln2355Leu) c.7034A>T (p.Gln2345Leu) c.7031A>T (p.Gln2344Leu) c.6983A>T (p.Gln2328Leu) c.6947A>T (p.Gln2316Leu) c.6944A>T (p.Gln2315Leu) c.6899A>T (p.Gln2300Leu) n.7564A>T | |
X | g.77508565T>C | CA413704901 | ATRX | c.7265A>G (p.Gln2422Arg) c.2363A>G (p.Gln788Arg) c.7151A>G (p.Gln2384Arg) c.*6893A>G (n.*6893A>G) n.5585A>G n.496A>G c.7262A>G (p.Gln2421Arg) c.7178A>G (p.Gln2393Arg) c.7148A>G (p.Gln2383Arg) c.7100A>G (p.Gln2367Arg) c.7061A>G (p.Gln2354Arg) c.6986A>G (p.Gln2329Arg) n.8857A>G c.7175A>G (p.Gln2392Arg) c.7145A>G (p.Gln2382Arg) c.7097A>G (p.Gln2366Arg) c.7064A>G (p.Gln2355Arg) c.7034A>G (p.Gln2345Arg) c.7031A>G (p.Gln2344Arg) c.6983A>G (p.Gln2328Arg) c.6947A>G (p.Gln2316Arg) c.6944A>G (p.Gln2315Arg) c.6899A>G (p.Gln2300Arg) n.7564A>G | |
X | g.77508565T>G | CA413704900 | ATRX | c.7265A>C (p.Gln2422Pro) c.2363A>C (p.Gln788Pro) c.7151A>C (p.Gln2384Pro) c.*6893A>C (n.*6893A>C) n.5585A>C n.496A>C c.7262A>C (p.Gln2421Pro) c.7178A>C (p.Gln2393Pro) c.7148A>C (p.Gln2383Pro) c.7100A>C (p.Gln2367Pro) c.7061A>C (p.Gln2354Pro) c.6986A>C (p.Gln2329Pro) n.8857A>C c.7175A>C (p.Gln2392Pro) c.7145A>C (p.Gln2382Pro) c.7097A>C (p.Gln2366Pro) c.7064A>C (p.Gln2355Pro) c.7034A>C (p.Gln2345Pro) c.7031A>C (p.Gln2344Pro) c.6983A>C (p.Gln2328Pro) c.6947A>C (p.Gln2316Pro) c.6944A>C (p.Gln2315Pro) c.6899A>C (p.Gln2300Pro) n.7564A>C | |
X | g.77508570_77508572del | CA2580612369 | ATRX | c.7263_7265del (p.Gln2422del) c.2361_2363del (p.Gln788del) c.7149_7151del (p.Gln2384del) c.*6891_*6893del (n.*6891_*6893del) n.5583_5585del n.494_496del c.7260_7262del (p.Gln2421del) c.7176_7178del (p.Gln2393del) c.7146_7148del (p.Gln2383del) c.7098_7100del (p.Gln2367del) c.7059_7061del (p.Gln2354del) c.6984_6986del (p.Gln2329del) n.8855_8857del c.7173_7175del (p.Gln2392del) c.7143_7145del (p.Gln2382del) c.7095_7097del (p.Gln2366del) c.7062_7064del (p.Gln2355del) c.7032_7034del (p.Gln2345del) c.7029_7031del (p.Gln2344del) c.6981_6983del (p.Gln2328del) c.6945_6947del (p.Gln2316del) c.6942_6944del (p.Gln2315del) c.6897_6899del (p.Gln2300del) n.7562_7564del | ClinVar dbSNP |
X | g.77508565_77508566insA | CA2695234705 | ATRX | c.7264_7265insT (p.Gln2422LeufsTer29) c.2362_2363insT (p.Gln788LeufsTer29) c.7150_7151insT (p.Gln2384LeufsTer29) c.*6892_*6893insT (n.*6892_*6893insT) n.5584_5585insT n.495_496insT c.7261_7262insT (p.Gln2421LeufsTer29) c.7177_7178insT (p.Gln2393LeufsTer29) c.7147_7148insT (p.Gln2383LeufsTer29) c.7099_7100insT (p.Gln2367LeufsTer29) c.7060_7061insT (p.Gln2354LeufsTer29) c.6985_6986insT (p.Gln2329LeufsTer29) n.8856_8857insT c.7174_7175insT (p.Gln2392LeufsTer29) c.7144_7145insT (p.Gln2382LeufsTer29) c.7096_7097insT (p.Gln2366LeufsTer29) c.7063_7064insT (p.Gln2355LeufsTer29) c.7033_7034insT (p.Gln2345LeufsTer29) c.7030_7031insT (p.Gln2344LeufsTer29) c.6982_6983insT (p.Gln2328LeufsTer29) c.6946_6947insT (p.Gln2316LeufsTer29) c.6943_6944insT (p.Gln2315LeufsTer29) c.6898_6899insT (p.Gln2300LeufsTer29) n.7563_7564insT | |
X | g.77508566G>A | CA413704905 | ATRX | c.7264C>T (p.Gln2422Ter) c.2362C>T (p.Gln788Ter) c.7150C>T (p.Gln2384Ter) c.*6892C>T (n.*6892C>T) n.5584C>T n.495C>T c.7261C>T (p.Gln2421Ter) c.7177C>T (p.Gln2393Ter) c.7147C>T (p.Gln2383Ter) c.7099C>T (p.Gln2367Ter) c.7060C>T (p.Gln2354Ter) c.6985C>T (p.Gln2329Ter) n.8856C>T c.7174C>T (p.Gln2392Ter) c.7144C>T (p.Gln2382Ter) c.7096C>T (p.Gln2366Ter) c.7063C>T (p.Gln2355Ter) c.7033C>T (p.Gln2345Ter) c.7030C>T (p.Gln2344Ter) c.6982C>T (p.Gln2328Ter) c.6946C>T (p.Gln2316Ter) c.6943C>T (p.Gln2315Ter) c.6898C>T (p.Gln2300Ter) n.7563C>T | |
X | g.77508566G>C | CA413704907 | ATRX | c.7264C>G (p.Gln2422Glu) c.2362C>G (p.Gln788Glu) c.7150C>G (p.Gln2384Glu) c.*6892C>G (n.*6892C>G) n.5584C>G n.495C>G c.7261C>G (p.Gln2421Glu) c.7177C>G (p.Gln2393Glu) c.7147C>G (p.Gln2383Glu) c.7099C>G (p.Gln2367Glu) c.7060C>G (p.Gln2354Glu) c.6985C>G (p.Gln2329Glu) n.8856C>G c.7174C>G (p.Gln2392Glu) c.7144C>G (p.Gln2382Glu) c.7096C>G (p.Gln2366Glu) c.7063C>G (p.Gln2355Glu) c.7033C>G (p.Gln2345Glu) c.7030C>G (p.Gln2344Glu) c.6982C>G (p.Gln2328Glu) c.6946C>G (p.Gln2316Glu) c.6943C>G (p.Gln2315Glu) c.6898C>G (p.Gln2300Glu) n.7563C>G | dbSNP |
X | g.77508566G>T | CA413704909 | ATRX | c.7264C>A (p.Gln2422Lys) c.2362C>A (p.Gln788Lys) c.7150C>A (p.Gln2384Lys) c.*6892C>A (n.*6892C>A) n.5584C>A n.495C>A c.7261C>A (p.Gln2421Lys) c.7177C>A (p.Gln2393Lys) c.7147C>A (p.Gln2383Lys) c.7099C>A (p.Gln2367Lys) c.7060C>A (p.Gln2354Lys) c.6985C>A (p.Gln2329Lys) n.8856C>A c.7174C>A (p.Gln2392Lys) c.7144C>A (p.Gln2382Lys) c.7096C>A (p.Gln2366Lys) c.7063C>A (p.Gln2355Lys) c.7033C>A (p.Gln2345Lys) c.7030C>A (p.Gln2344Lys) c.6982C>A (p.Gln2328Lys) c.6946C>A (p.Gln2316Lys) c.6943C>A (p.Gln2315Lys) c.6898C>A (p.Gln2300Lys) n.7563C>A | |
X | g.77508567C>A | CA413704911 | ATRX | c.7263G>T (p.Gln2421His) c.2361G>T (p.Gln787His) c.7149G>T (p.Gln2383His) c.*6891G>T (n.*6891G>T) n.5583G>T n.494G>T c.7260G>T (p.Gln2420His) c.7176G>T (p.Gln2392His) c.7146G>T (p.Gln2382His) c.7098G>T (p.Gln2366His) c.7059G>T (p.Gln2353His) c.6984G>T (p.Gln2328His) n.8855G>T c.7173G>T (p.Gln2391His) c.7143G>T (p.Gln2381His) c.7095G>T (p.Gln2365His) c.7062G>T (p.Gln2354His) c.7032G>T (p.Gln2344His) c.7029G>T (p.Gln2343His) c.6981G>T (p.Gln2327His) c.6945G>T (p.Gln2315His) c.6942G>T (p.Gln2314His) c.6897G>T (p.Gln2299His) n.7562G>T | |
X | g.77508567C>G | CA413704913 | ATRX | c.7263G>C (p.Gln2421His) c.2361G>C (p.Gln787His) c.7149G>C (p.Gln2383His) c.*6891G>C (n.*6891G>C) n.5583G>C n.494G>C c.7260G>C (p.Gln2420His) c.7176G>C (p.Gln2392His) c.7146G>C (p.Gln2382His) c.7098G>C (p.Gln2366His) c.7059G>C (p.Gln2353His) c.6984G>C (p.Gln2328His) n.8855G>C c.7173G>C (p.Gln2391His) c.7143G>C (p.Gln2381His) c.7095G>C (p.Gln2365His) c.7062G>C (p.Gln2354His) c.7032G>C (p.Gln2344His) c.7029G>C (p.Gln2343His) c.6981G>C (p.Gln2327His) c.6945G>C (p.Gln2315His) c.6942G>C (p.Gln2314His) c.6897G>C (p.Gln2299His) n.7562G>C | dbSNP |
X | g.77508567C>T | CA517374180 | ATRX | c.7263G>A (p.Gln2421=) c.2361G>A (p.Gln787=) c.7149G>A (p.Gln2383=) c.*6891G>A (n.*6891G>A) n.5583G>A n.494G>A c.7260G>A (p.Gln2420=) c.7176G>A (p.Gln2392=) c.7146G>A (p.Gln2382=) c.7098G>A (p.Gln2366=) c.7059G>A (p.Gln2353=) c.6984G>A (p.Gln2328=) n.8855G>A c.7173G>A (p.Gln2391=) c.7143G>A (p.Gln2381=) c.7095G>A (p.Gln2365=) c.7062G>A (p.Gln2354=) c.7032G>A (p.Gln2344=) c.7029G>A (p.Gln2343=) c.6981G>A (p.Gln2327=) c.6945G>A (p.Gln2315=) c.6942G>A (p.Gln2314=) c.6897G>A (p.Gln2299=) n.7562G>A | dbSNP |
X | g.77508568T>A | CA413704916 | ATRX | c.7262A>T (p.Gln2421Leu) c.2360A>T (p.Gln787Leu) c.7148A>T (p.Gln2383Leu) c.*6890A>T (n.*6890A>T) n.5582A>T n.493A>T c.7259A>T (p.Gln2420Leu) c.7175A>T (p.Gln2392Leu) c.7145A>T (p.Gln2382Leu) c.7097A>T (p.Gln2366Leu) c.7058A>T (p.Gln2353Leu) c.6983A>T (p.Gln2328Leu) n.8854A>T c.7172A>T (p.Gln2391Leu) c.7142A>T (p.Gln2381Leu) c.7094A>T (p.Gln2365Leu) c.7061A>T (p.Gln2354Leu) c.7031A>T (p.Gln2344Leu) c.7028A>T (p.Gln2343Leu) c.6980A>T (p.Gln2327Leu) c.6944A>T (p.Gln2315Leu) c.6941A>T (p.Gln2314Leu) c.6896A>T (p.Gln2299Leu) n.7561A>T | |
X | g.77508568T>C | CA413704919 | ATRX | c.7262A>G (p.Gln2421Arg) c.2360A>G (p.Gln787Arg) c.7148A>G (p.Gln2383Arg) c.*6890A>G (n.*6890A>G) n.5582A>G n.493A>G c.7259A>G (p.Gln2420Arg) c.7175A>G (p.Gln2392Arg) c.7145A>G (p.Gln2382Arg) c.7097A>G (p.Gln2366Arg) c.7058A>G (p.Gln2353Arg) c.6983A>G (p.Gln2328Arg) n.8854A>G c.7172A>G (p.Gln2391Arg) c.7142A>G (p.Gln2381Arg) c.7094A>G (p.Gln2365Arg) c.7061A>G (p.Gln2354Arg) c.7031A>G (p.Gln2344Arg) c.7028A>G (p.Gln2343Arg) c.6980A>G (p.Gln2327Arg) c.6944A>G (p.Gln2315Arg) c.6941A>G (p.Gln2314Arg) c.6896A>G (p.Gln2299Arg) n.7561A>G | |
X | g.77508568T>G | CA413704921 | ATRX | c.7262A>C (p.Gln2421Pro) c.2360A>C (p.Gln787Pro) c.7148A>C (p.Gln2383Pro) c.*6890A>C (n.*6890A>C) n.5582A>C n.493A>C c.7259A>C (p.Gln2420Pro) c.7175A>C (p.Gln2392Pro) c.7145A>C (p.Gln2382Pro) c.7097A>C (p.Gln2366Pro) c.7058A>C (p.Gln2353Pro) c.6983A>C (p.Gln2328Pro) n.8854A>C c.7172A>C (p.Gln2391Pro) c.7142A>C (p.Gln2381Pro) c.7094A>C (p.Gln2365Pro) c.7061A>C (p.Gln2354Pro) c.7031A>C (p.Gln2344Pro) c.7028A>C (p.Gln2343Pro) c.6980A>C (p.Gln2327Pro) c.6944A>C (p.Gln2315Pro) c.6941A>C (p.Gln2314Pro) c.6896A>C (p.Gln2299Pro) n.7561A>C | |
X | g.77508569G>A | CA413704926 | ATRX | c.7261C>T (p.Gln2421Ter) c.2359C>T (p.Gln787Ter) c.7147C>T (p.Gln2383Ter) c.*6889C>T (n.*6889C>T) n.5581C>T n.492C>T c.7258C>T (p.Gln2420Ter) c.7174C>T (p.Gln2392Ter) c.7144C>T (p.Gln2382Ter) c.7096C>T (p.Gln2366Ter) c.7057C>T (p.Gln2353Ter) c.6982C>T (p.Gln2328Ter) n.8853C>T c.7171C>T (p.Gln2391Ter) c.7141C>T (p.Gln2381Ter) c.7093C>T (p.Gln2365Ter) c.7060C>T (p.Gln2354Ter) c.7030C>T (p.Gln2344Ter) c.7027C>T (p.Gln2343Ter) c.6979C>T (p.Gln2327Ter) c.6943C>T (p.Gln2315Ter) c.6940C>T (p.Gln2314Ter) c.6895C>T (p.Gln2299Ter) n.7560C>T | dbSNP |
X | g.77508569G>C | CA413704928 | ATRX | c.7261C>G (p.Gln2421Glu) c.2359C>G (p.Gln787Glu) c.7147C>G (p.Gln2383Glu) c.*6889C>G (n.*6889C>G) n.5581C>G n.492C>G c.7258C>G (p.Gln2420Glu) c.7174C>G (p.Gln2392Glu) c.7144C>G (p.Gln2382Glu) c.7096C>G (p.Gln2366Glu) c.7057C>G (p.Gln2353Glu) c.6982C>G (p.Gln2328Glu) n.8853C>G c.7171C>G (p.Gln2391Glu) c.7141C>G (p.Gln2381Glu) c.7093C>G (p.Gln2365Glu) c.7060C>G (p.Gln2354Glu) c.7030C>G (p.Gln2344Glu) c.7027C>G (p.Gln2343Glu) c.6979C>G (p.Gln2327Glu) c.6943C>G (p.Gln2315Glu) c.6940C>G (p.Gln2314Glu) c.6895C>G (p.Gln2299Glu) n.7560C>G | dbSNP |
X | g.77508569G>T | CA413704932 | ATRX | c.7261C>A (p.Gln2421Lys) c.2359C>A (p.Gln787Lys) c.7147C>A (p.Gln2383Lys) c.*6889C>A (n.*6889C>A) n.5581C>A n.492C>A c.7258C>A (p.Gln2420Lys) c.7174C>A (p.Gln2392Lys) c.7144C>A (p.Gln2382Lys) c.7096C>A (p.Gln2366Lys) c.7057C>A (p.Gln2353Lys) c.6982C>A (p.Gln2328Lys) n.8853C>A c.7171C>A (p.Gln2391Lys) c.7141C>A (p.Gln2381Lys) c.7093C>A (p.Gln2365Lys) c.7060C>A (p.Gln2354Lys) c.7030C>A (p.Gln2344Lys) c.7027C>A (p.Gln2343Lys) c.6979C>A (p.Gln2327Lys) c.6943C>A (p.Gln2315Lys) c.6940C>A (p.Gln2314Lys) c.6895C>A (p.Gln2299Lys) n.7560C>A | dbSNP |