Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.77520726_77520729delinsCTTA | CA2438933034 | ATRX | c.7200+59_7200+62delinsTAAG (n.7200+59_7200+62delinsTAAG) c.2298+59_2298+62delinsTAAG (n.2298+59_2298+62delinsTAAG) c.7086+59_7086+62delinsTAAG (n.7086+59_7086+62delinsTAAG) c.*6828+59_*6828+62delinsTAAG (n.*6828+59_*6828+62delinsTAAG) n.5520+59_5520+62delinsTAAG n.431+59_431+62delinsTAAG c.7197+59_7197+62delinsTAAG (n.7197+59_7197+62delinsTAAG) c.7113+59_7113+62delinsTAAG (n.7113+59_7113+62delinsTAAG) c.7083+59_7083+62delinsTAAG (n.7083+59_7083+62delinsTAAG) c.7035+59_7035+62delinsTAAG (n.7035+59_7035+62delinsTAAG) c.6996+59_6996+62delinsTAAG (n.6996+59_6996+62delinsTAAG) c.6921+59_6921+62delinsTAAG (n.6921+59_6921+62delinsTAAG) n.8792+59_8792+62delinsTAAG c.7110+59_7110+62delinsTAAG (n.7110+59_7110+62delinsTAAG) c.7080+59_7080+62delinsTAAG (n.7080+59_7080+62delinsTAAG) c.7032+59_7032+62delinsTAAG (n.7032+59_7032+62delinsTAAG) c.6999+59_6999+62delinsTAAG (n.6999+59_6999+62delinsTAAG) c.6969+59_6969+62delinsTAAG (n.6969+59_6969+62delinsTAAG) c.6966+59_6966+62delinsTAAG (n.6966+59_6966+62delinsTAAG) c.6918+59_6918+62delinsTAAG (n.6918+59_6918+62delinsTAAG) c.6882+59_6882+62delinsTAAG (n.6882+59_6882+62delinsTAAG) c.6879+59_6879+62delinsTAAG (n.6879+59_6879+62delinsTAAG) c.6834+59_6834+62delinsTAAG (n.6834+59_6834+62delinsTAAG) n.7499+59_7499+62delinsTAAG | |
X | g.77520731_77520733del | CA878454945 | ATRX | c.7200+59_7200+61del (n.7200+59_7200+61del) c.2298+59_2298+61del (n.2298+59_2298+61del) c.7086+59_7086+61del (n.7086+59_7086+61del) c.*6828+59_*6828+61del (n.*6828+59_*6828+61del) n.5520+59_5520+61del n.431+59_431+61del c.7197+59_7197+61del (n.7197+59_7197+61del) c.7113+59_7113+61del (n.7113+59_7113+61del) c.7083+59_7083+61del (n.7083+59_7083+61del) c.7035+59_7035+61del (n.7035+59_7035+61del) c.6996+59_6996+61del (n.6996+59_6996+61del) c.6921+59_6921+61del (n.6921+59_6921+61del) n.8792+59_8792+61del c.7110+59_7110+61del (n.7110+59_7110+61del) c.7080+59_7080+61del (n.7080+59_7080+61del) c.7032+59_7032+61del (n.7032+59_7032+61del) c.6999+59_6999+61del (n.6999+59_6999+61del) c.6969+59_6969+61del (n.6969+59_6969+61del) c.6966+59_6966+61del (n.6966+59_6966+61del) c.6918+59_6918+61del (n.6918+59_6918+61del) c.6882+59_6882+61del (n.6882+59_6882+61del) c.6879+59_6879+61del (n.6879+59_6879+61del) c.6834+59_6834+61del (n.6834+59_6834+61del) n.7499+59_7499+61del | dbSNP gnomAD v3 gnomAD v4 |
X | g.77520730T>C | CA2694139276 | ATRX | c.7200+58A>G (n.7200+58A>G) c.2298+58A>G (n.2298+58A>G) c.7086+58A>G (n.7086+58A>G) c.*6828+58A>G (n.*6828+58A>G) n.5520+58A>G n.431+58A>G c.7197+58A>G (n.7197+58A>G) c.7113+58A>G (n.7113+58A>G) c.7083+58A>G (n.7083+58A>G) c.7035+58A>G (n.7035+58A>G) c.6996+58A>G (n.6996+58A>G) c.6921+58A>G (n.6921+58A>G) n.8792+58A>G c.7110+58A>G (n.7110+58A>G) c.7080+58A>G (n.7080+58A>G) c.7032+58A>G (n.7032+58A>G) c.6999+58A>G (n.6999+58A>G) c.6969+58A>G (n.6969+58A>G) c.6966+58A>G (n.6966+58A>G) c.6918+58A>G (n.6918+58A>G) c.6882+58A>G (n.6882+58A>G) c.6879+58A>G (n.6879+58A>G) c.6834+58A>G (n.6834+58A>G) n.7499+58A>G | gnomAD v4 |
X | g.77520731T>C | CA1134467921 | ATRX | c.7200+57A>G (n.7200+57A>G) c.2298+57A>G (n.2298+57A>G) c.7086+57A>G (n.7086+57A>G) c.*6828+57A>G (n.*6828+57A>G) n.5520+57A>G n.431+57A>G c.7197+57A>G (n.7197+57A>G) c.7113+57A>G (n.7113+57A>G) c.7083+57A>G (n.7083+57A>G) c.7035+57A>G (n.7035+57A>G) c.6996+57A>G (n.6996+57A>G) c.6921+57A>G (n.6921+57A>G) n.8792+57A>G c.7110+57A>G (n.7110+57A>G) c.7080+57A>G (n.7080+57A>G) c.7032+57A>G (n.7032+57A>G) c.6999+57A>G (n.6999+57A>G) c.6969+57A>G (n.6969+57A>G) c.6966+57A>G (n.6966+57A>G) c.6918+57A>G (n.6918+57A>G) c.6882+57A>G (n.6882+57A>G) c.6879+57A>G (n.6879+57A>G) c.6834+57A>G (n.6834+57A>G) n.7499+57A>G | dbSNP gnomAD v3 gnomAD v4 |
X | g.77520731T= | CA2438933036 | ATRX | c.7200+57A= (n.7200+57A=) c.2298+57A= (n.2298+57A=) c.7086+57A= (n.7086+57A=) c.*6828+57A= (n.*6828+57A=) n.5520+57A= n.431+57A= c.7197+57A= (n.7197+57A=) c.7113+57A= (n.7113+57A=) c.7083+57A= (n.7083+57A=) c.7035+57A= (n.7035+57A=) c.6996+57A= (n.6996+57A=) c.6921+57A= (n.6921+57A=) n.8792+57A= c.7110+57A= (n.7110+57A=) c.7080+57A= (n.7080+57A=) c.7032+57A= (n.7032+57A=) c.6999+57A= (n.6999+57A=) c.6969+57A= (n.6969+57A=) c.6966+57A= (n.6966+57A=) c.6918+57A= (n.6918+57A=) c.6882+57A= (n.6882+57A=) c.6879+57A= (n.6879+57A=) c.6834+57A= (n.6834+57A=) n.7499+57A= | |
X | g.77520732del | CA2579648661 | ATRX | c.7200+56del (n.7200+56del) c.2298+56del (n.2298+56del) c.7086+56del (n.7086+56del) c.*6828+56del (n.*6828+56del) n.5520+56del n.431+56del c.7197+56del (n.7197+56del) c.7113+56del (n.7113+56del) c.7083+56del (n.7083+56del) c.7035+56del (n.7035+56del) c.6996+56del (n.6996+56del) c.6921+56del (n.6921+56del) n.8792+56del c.7110+56del (n.7110+56del) c.7080+56del (n.7080+56del) c.7032+56del (n.7032+56del) c.6999+56del (n.6999+56del) c.6969+56del (n.6969+56del) c.6966+56del (n.6966+56del) c.6918+56del (n.6918+56del) c.6882+56del (n.6882+56del) c.6879+56del (n.6879+56del) c.6834+56del (n.6834+56del) n.7499+56del | |
X | g.77520734A= | CA2438933037 | ATRX | c.7200+54T= (n.7200+54T=) c.2298+54T= (n.2298+54T=) c.7086+54T= (n.7086+54T=) c.*6828+54T= (n.*6828+54T=) n.5520+54T= n.431+54T= c.7197+54T= (n.7197+54T=) c.7113+54T= (n.7113+54T=) c.7083+54T= (n.7083+54T=) c.7035+54T= (n.7035+54T=) c.6996+54T= (n.6996+54T=) c.6921+54T= (n.6921+54T=) n.8792+54T= c.7110+54T= (n.7110+54T=) c.7080+54T= (n.7080+54T=) c.7032+54T= (n.7032+54T=) c.6999+54T= (n.6999+54T=) c.6969+54T= (n.6969+54T=) c.6966+54T= (n.6966+54T=) c.6918+54T= (n.6918+54T=) c.6882+54T= (n.6882+54T=) c.6879+54T= (n.6879+54T=) c.6834+54T= (n.6834+54T=) n.7499+54T= | |
X | g.77520734A>G | CA331560695 | ATRX | c.7200+54T>C (n.7200+54T>C) c.2298+54T>C (n.2298+54T>C) c.7086+54T>C (n.7086+54T>C) c.*6828+54T>C (n.*6828+54T>C) n.5520+54T>C n.431+54T>C c.7197+54T>C (n.7197+54T>C) c.7113+54T>C (n.7113+54T>C) c.7083+54T>C (n.7083+54T>C) c.7035+54T>C (n.7035+54T>C) c.6996+54T>C (n.6996+54T>C) c.6921+54T>C (n.6921+54T>C) n.8792+54T>C c.7110+54T>C (n.7110+54T>C) c.7080+54T>C (n.7080+54T>C) c.7032+54T>C (n.7032+54T>C) c.6999+54T>C (n.6999+54T>C) c.6969+54T>C (n.6969+54T>C) c.6966+54T>C (n.6966+54T>C) c.6918+54T>C (n.6918+54T>C) c.6882+54T>C (n.6882+54T>C) c.6879+54T>C (n.6879+54T>C) c.6834+54T>C (n.6834+54T>C) n.7499+54T>C | dbSNP gnomAD v3 gnomAD v4 |
X | g.77520736del | CA2694139279 | ATRX | c.7200+54del (n.7200+54del) c.2298+54del (n.2298+54del) c.7086+54del (n.7086+54del) c.*6828+54del (n.*6828+54del) n.5520+54del n.431+54del c.7197+54del (n.7197+54del) c.7113+54del (n.7113+54del) c.7083+54del (n.7083+54del) c.7035+54del (n.7035+54del) c.6996+54del (n.6996+54del) c.6921+54del (n.6921+54del) n.8792+54del c.7110+54del (n.7110+54del) c.7080+54del (n.7080+54del) c.7032+54del (n.7032+54del) c.6999+54del (n.6999+54del) c.6969+54del (n.6969+54del) c.6966+54del (n.6966+54del) c.6918+54del (n.6918+54del) c.6882+54del (n.6882+54del) c.6879+54del (n.6879+54del) c.6834+54del (n.6834+54del) n.7499+54del | gnomAD v4 |
X | g.77520736A>T | CA2579648662 | ATRX | c.7200+52T>A (n.7200+52T>A) c.2298+52T>A (n.2298+52T>A) c.7086+52T>A (n.7086+52T>A) c.*6828+52T>A (n.*6828+52T>A) n.5520+52T>A n.431+52T>A c.7197+52T>A (n.7197+52T>A) c.7113+52T>A (n.7113+52T>A) c.7083+52T>A (n.7083+52T>A) c.7035+52T>A (n.7035+52T>A) c.6996+52T>A (n.6996+52T>A) c.6921+52T>A (n.6921+52T>A) n.8792+52T>A c.7110+52T>A (n.7110+52T>A) c.7080+52T>A (n.7080+52T>A) c.7032+52T>A (n.7032+52T>A) c.6999+52T>A (n.6999+52T>A) c.6969+52T>A (n.6969+52T>A) c.6966+52T>A (n.6966+52T>A) c.6918+52T>A (n.6918+52T>A) c.6882+52T>A (n.6882+52T>A) c.6879+52T>A (n.6879+52T>A) c.6834+52T>A (n.6834+52T>A) n.7499+52T>A | |
X | g.77520737G>A | CA2838964551 | ATRX | c.7200+51C>T (n.7200+51C>T) c.2298+51C>T (n.2298+51C>T) c.7086+51C>T (n.7086+51C>T) c.*6828+51C>T (n.*6828+51C>T) n.5520+51C>T n.431+51C>T c.7197+51C>T (n.7197+51C>T) c.7113+51C>T (n.7113+51C>T) c.7083+51C>T (n.7083+51C>T) c.7035+51C>T (n.7035+51C>T) c.6996+51C>T (n.6996+51C>T) c.6921+51C>T (n.6921+51C>T) n.8792+51C>T c.7110+51C>T (n.7110+51C>T) c.7080+51C>T (n.7080+51C>T) c.7032+51C>T (n.7032+51C>T) c.6999+51C>T (n.6999+51C>T) c.6969+51C>T (n.6969+51C>T) c.6966+51C>T (n.6966+51C>T) c.6918+51C>T (n.6918+51C>T) c.6882+51C>T (n.6882+51C>T) c.6879+51C>T (n.6879+51C>T) c.6834+51C>T (n.6834+51C>T) n.7499+51C>T | |
X | g.77520737G>C | CA331560696 | ATRX | c.7200+51C>G (n.7200+51C>G) c.2298+51C>G (n.2298+51C>G) c.7086+51C>G (n.7086+51C>G) c.*6828+51C>G (n.*6828+51C>G) n.5520+51C>G n.431+51C>G c.7197+51C>G (n.7197+51C>G) c.7113+51C>G (n.7113+51C>G) c.7083+51C>G (n.7083+51C>G) c.7035+51C>G (n.7035+51C>G) c.6996+51C>G (n.6996+51C>G) c.6921+51C>G (n.6921+51C>G) n.8792+51C>G c.7110+51C>G (n.7110+51C>G) c.7080+51C>G (n.7080+51C>G) c.7032+51C>G (n.7032+51C>G) c.6999+51C>G (n.6999+51C>G) c.6969+51C>G (n.6969+51C>G) c.6966+51C>G (n.6966+51C>G) c.6918+51C>G (n.6918+51C>G) c.6882+51C>G (n.6882+51C>G) c.6879+51C>G (n.6879+51C>G) c.6834+51C>G (n.6834+51C>G) n.7499+51C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.77520737G= | CA2438933038 | ATRX | c.7200+51C= (n.7200+51C=) c.2298+51C= (n.2298+51C=) c.7086+51C= (n.7086+51C=) c.*6828+51C= (n.*6828+51C=) n.5520+51C= n.431+51C= c.7197+51C= (n.7197+51C=) c.7113+51C= (n.7113+51C=) c.7083+51C= (n.7083+51C=) c.7035+51C= (n.7035+51C=) c.6996+51C= (n.6996+51C=) c.6921+51C= (n.6921+51C=) n.8792+51C= c.7110+51C= (n.7110+51C=) c.7080+51C= (n.7080+51C=) c.7032+51C= (n.7032+51C=) c.6999+51C= (n.6999+51C=) c.6969+51C= (n.6969+51C=) c.6966+51C= (n.6966+51C=) c.6918+51C= (n.6918+51C=) c.6882+51C= (n.6882+51C=) c.6879+51C= (n.6879+51C=) c.6834+51C= (n.6834+51C=) n.7499+51C= | |
X | g.77520737G>T | CA2525868714 | ATRX | c.7200+51C>A (n.7200+51C>A) c.2298+51C>A (n.2298+51C>A) c.7086+51C>A (n.7086+51C>A) c.*6828+51C>A (n.*6828+51C>A) n.5520+51C>A n.431+51C>A c.7197+51C>A (n.7197+51C>A) c.7113+51C>A (n.7113+51C>A) c.7083+51C>A (n.7083+51C>A) c.7035+51C>A (n.7035+51C>A) c.6996+51C>A (n.6996+51C>A) c.6921+51C>A (n.6921+51C>A) n.8792+51C>A c.7110+51C>A (n.7110+51C>A) c.7080+51C>A (n.7080+51C>A) c.7032+51C>A (n.7032+51C>A) c.6999+51C>A (n.6999+51C>A) c.6969+51C>A (n.6969+51C>A) c.6966+51C>A (n.6966+51C>A) c.6918+51C>A (n.6918+51C>A) c.6882+51C>A (n.6882+51C>A) c.6879+51C>A (n.6879+51C>A) c.6834+51C>A (n.6834+51C>A) n.7499+51C>A | gnomAD v4 |
X | g.77520739C>A | CA10457409 | ATRX | c.7200+49G>T (n.7200+49G>T) c.2298+49G>T (n.2298+49G>T) c.7086+49G>T (n.7086+49G>T) c.*6828+49G>T (n.*6828+49G>T) n.5520+49G>T n.431+49G>T c.7197+49G>T (n.7197+49G>T) c.7113+49G>T (n.7113+49G>T) c.7083+49G>T (n.7083+49G>T) c.7035+49G>T (n.7035+49G>T) c.6996+49G>T (n.6996+49G>T) c.6921+49G>T (n.6921+49G>T) n.8792+49G>T c.7110+49G>T (n.7110+49G>T) c.7080+49G>T (n.7080+49G>T) c.7032+49G>T (n.7032+49G>T) c.6999+49G>T (n.6999+49G>T) c.6969+49G>T (n.6969+49G>T) c.6966+49G>T (n.6966+49G>T) c.6918+49G>T (n.6918+49G>T) c.6882+49G>T (n.6882+49G>T) c.6879+49G>T (n.6879+49G>T) c.6834+49G>T (n.6834+49G>T) n.7499+49G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.77520739C= | CA2438933040 | ATRX | c.7200+49G= (n.7200+49G=) c.2298+49G= (n.2298+49G=) c.7086+49G= (n.7086+49G=) c.*6828+49G= (n.*6828+49G=) n.5520+49G= n.431+49G= c.7197+49G= (n.7197+49G=) c.7113+49G= (n.7113+49G=) c.7083+49G= (n.7083+49G=) c.7035+49G= (n.7035+49G=) c.6996+49G= (n.6996+49G=) c.6921+49G= (n.6921+49G=) n.8792+49G= c.7110+49G= (n.7110+49G=) c.7080+49G= (n.7080+49G=) c.7032+49G= (n.7032+49G=) c.6999+49G= (n.6999+49G=) c.6969+49G= (n.6969+49G=) c.6966+49G= (n.6966+49G=) c.6918+49G= (n.6918+49G=) c.6882+49G= (n.6882+49G=) c.6879+49G= (n.6879+49G=) c.6834+49G= (n.6834+49G=) n.7499+49G= | |
X | g.77520739C>G | CA2543619807 | ATRX | c.7200+49G>C (n.7200+49G>C) c.2298+49G>C (n.2298+49G>C) c.7086+49G>C (n.7086+49G>C) c.*6828+49G>C (n.*6828+49G>C) n.5520+49G>C n.431+49G>C c.7197+49G>C (n.7197+49G>C) c.7113+49G>C (n.7113+49G>C) c.7083+49G>C (n.7083+49G>C) c.7035+49G>C (n.7035+49G>C) c.6996+49G>C (n.6996+49G>C) c.6921+49G>C (n.6921+49G>C) n.8792+49G>C c.7110+49G>C (n.7110+49G>C) c.7080+49G>C (n.7080+49G>C) c.7032+49G>C (n.7032+49G>C) c.6999+49G>C (n.6999+49G>C) c.6969+49G>C (n.6969+49G>C) c.6966+49G>C (n.6966+49G>C) c.6918+49G>C (n.6918+49G>C) c.6882+49G>C (n.6882+49G>C) c.6879+49G>C (n.6879+49G>C) c.6834+49G>C (n.6834+49G>C) n.7499+49G>C | |
X | g.77520739C>T | CA2438933039 | ATRX | c.7200+49G>A (n.7200+49G>A) c.2298+49G>A (n.2298+49G>A) c.7086+49G>A (n.7086+49G>A) c.*6828+49G>A (n.*6828+49G>A) n.5520+49G>A n.431+49G>A c.7197+49G>A (n.7197+49G>A) c.7113+49G>A (n.7113+49G>A) c.7083+49G>A (n.7083+49G>A) c.7035+49G>A (n.7035+49G>A) c.6996+49G>A (n.6996+49G>A) c.6921+49G>A (n.6921+49G>A) n.8792+49G>A c.7110+49G>A (n.7110+49G>A) c.7080+49G>A (n.7080+49G>A) c.7032+49G>A (n.7032+49G>A) c.6999+49G>A (n.6999+49G>A) c.6969+49G>A (n.6969+49G>A) c.6966+49G>A (n.6966+49G>A) c.6918+49G>A (n.6918+49G>A) c.6882+49G>A (n.6882+49G>A) c.6879+49G>A (n.6879+49G>A) c.6834+49G>A (n.6834+49G>A) n.7499+49G>A | dbSNP gnomAD v4 |
X | g.77520741A>G | CA2694139286 | ATRX | c.7200+47T>C (n.7200+47T>C) c.2298+47T>C (n.2298+47T>C) c.7086+47T>C (n.7086+47T>C) c.*6828+47T>C (n.*6828+47T>C) n.5520+47T>C n.431+47T>C c.7197+47T>C (n.7197+47T>C) c.7113+47T>C (n.7113+47T>C) c.7083+47T>C (n.7083+47T>C) c.7035+47T>C (n.7035+47T>C) c.6996+47T>C (n.6996+47T>C) c.6921+47T>C (n.6921+47T>C) n.8792+47T>C c.7110+47T>C (n.7110+47T>C) c.7080+47T>C (n.7080+47T>C) c.7032+47T>C (n.7032+47T>C) c.6999+47T>C (n.6999+47T>C) c.6969+47T>C (n.6969+47T>C) c.6966+47T>C (n.6966+47T>C) c.6918+47T>C (n.6918+47T>C) c.6882+47T>C (n.6882+47T>C) c.6879+47T>C (n.6879+47T>C) c.6834+47T>C (n.6834+47T>C) n.7499+47T>C | gnomAD v4 |
X | g.77520742G>T | CA2694139288 | ATRX | c.7200+46C>A (n.7200+46C>A) c.2298+46C>A (n.2298+46C>A) c.7086+46C>A (n.7086+46C>A) c.*6828+46C>A (n.*6828+46C>A) n.5520+46C>A n.431+46C>A c.7197+46C>A (n.7197+46C>A) c.7113+46C>A (n.7113+46C>A) c.7083+46C>A (n.7083+46C>A) c.7035+46C>A (n.7035+46C>A) c.6996+46C>A (n.6996+46C>A) c.6921+46C>A (n.6921+46C>A) n.8792+46C>A c.7110+46C>A (n.7110+46C>A) c.7080+46C>A (n.7080+46C>A) c.7032+46C>A (n.7032+46C>A) c.6999+46C>A (n.6999+46C>A) c.6969+46C>A (n.6969+46C>A) c.6966+46C>A (n.6966+46C>A) c.6918+46C>A (n.6918+46C>A) c.6882+46C>A (n.6882+46C>A) c.6879+46C>A (n.6879+46C>A) c.6834+46C>A (n.6834+46C>A) n.7499+46C>A | gnomAD v4 |
X | g.77520742_77520743insT | CA2579648663 | ATRX | c.7200+45_7200+46insA (n.7200+45_7200+46insA) c.2298+45_2298+46insA (n.2298+45_2298+46insA) c.7086+45_7086+46insA (n.7086+45_7086+46insA) c.*6828+45_*6828+46insA (n.*6828+45_*6828+46insA) n.5520+45_5520+46insA n.431+45_431+46insA c.7197+45_7197+46insA (n.7197+45_7197+46insA) c.7113+45_7113+46insA (n.7113+45_7113+46insA) c.7083+45_7083+46insA (n.7083+45_7083+46insA) c.7035+45_7035+46insA (n.7035+45_7035+46insA) c.6996+45_6996+46insA (n.6996+45_6996+46insA) c.6921+45_6921+46insA (n.6921+45_6921+46insA) n.8792+45_8792+46insA c.7110+45_7110+46insA (n.7110+45_7110+46insA) c.7080+45_7080+46insA (n.7080+45_7080+46insA) c.7032+45_7032+46insA (n.7032+45_7032+46insA) c.6999+45_6999+46insA (n.6999+45_6999+46insA) c.6969+45_6969+46insA (n.6969+45_6969+46insA) c.6966+45_6966+46insA (n.6966+45_6966+46insA) c.6918+45_6918+46insA (n.6918+45_6918+46insA) c.6882+45_6882+46insA (n.6882+45_6882+46insA) c.6879+45_6879+46insA (n.6879+45_6879+46insA) c.6834+45_6834+46insA (n.6834+45_6834+46insA) n.7499+45_7499+46insA | |
X | g.77520743A>T | CA2579648664 | ATRX | c.7200+45T>A (n.7200+45T>A) c.2298+45T>A (n.2298+45T>A) c.7086+45T>A (n.7086+45T>A) c.*6828+45T>A (n.*6828+45T>A) n.5520+45T>A n.431+45T>A c.7197+45T>A (n.7197+45T>A) c.7113+45T>A (n.7113+45T>A) c.7083+45T>A (n.7083+45T>A) c.7035+45T>A (n.7035+45T>A) c.6996+45T>A (n.6996+45T>A) c.6921+45T>A (n.6921+45T>A) n.8792+45T>A c.7110+45T>A (n.7110+45T>A) c.7080+45T>A (n.7080+45T>A) c.7032+45T>A (n.7032+45T>A) c.6999+45T>A (n.6999+45T>A) c.6969+45T>A (n.6969+45T>A) c.6966+45T>A (n.6966+45T>A) c.6918+45T>A (n.6918+45T>A) c.6882+45T>A (n.6882+45T>A) c.6879+45T>A (n.6879+45T>A) c.6834+45T>A (n.6834+45T>A) n.7499+45T>A | |
X | g.77520747T>C | CA10457410 | ATRX | c.7200+41A>G (n.7200+41A>G) c.2298+41A>G (n.2298+41A>G) c.7086+41A>G (n.7086+41A>G) c.*6828+41A>G (n.*6828+41A>G) n.5520+41A>G n.431+41A>G c.7197+41A>G (n.7197+41A>G) c.7113+41A>G (n.7113+41A>G) c.7083+41A>G (n.7083+41A>G) c.7035+41A>G (n.7035+41A>G) c.6996+41A>G (n.6996+41A>G) c.6921+41A>G (n.6921+41A>G) n.8792+41A>G c.7110+41A>G (n.7110+41A>G) c.7080+41A>G (n.7080+41A>G) c.7032+41A>G (n.7032+41A>G) c.6999+41A>G (n.6999+41A>G) c.6969+41A>G (n.6969+41A>G) c.6966+41A>G (n.6966+41A>G) c.6918+41A>G (n.6918+41A>G) c.6882+41A>G (n.6882+41A>G) c.6879+41A>G (n.6879+41A>G) c.6834+41A>G (n.6834+41A>G) n.7499+41A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.77520747T>G | CA2579648665 | ATRX | c.7200+41A>C (n.7200+41A>C) c.2298+41A>C (n.2298+41A>C) c.7086+41A>C (n.7086+41A>C) c.*6828+41A>C (n.*6828+41A>C) n.5520+41A>C n.431+41A>C c.7197+41A>C (n.7197+41A>C) c.7113+41A>C (n.7113+41A>C) c.7083+41A>C (n.7083+41A>C) c.7035+41A>C (n.7035+41A>C) c.6996+41A>C (n.6996+41A>C) c.6921+41A>C (n.6921+41A>C) n.8792+41A>C c.7110+41A>C (n.7110+41A>C) c.7080+41A>C (n.7080+41A>C) c.7032+41A>C (n.7032+41A>C) c.6999+41A>C (n.6999+41A>C) c.6969+41A>C (n.6969+41A>C) c.6966+41A>C (n.6966+41A>C) c.6918+41A>C (n.6918+41A>C) c.6882+41A>C (n.6882+41A>C) c.6879+41A>C (n.6879+41A>C) c.6834+41A>C (n.6834+41A>C) n.7499+41A>C | |
X | g.77520747T= | CA2438933041 | ATRX | c.7200+41A= (n.7200+41A=) c.2298+41A= (n.2298+41A=) c.7086+41A= (n.7086+41A=) c.*6828+41A= (n.*6828+41A=) n.5520+41A= n.431+41A= c.7197+41A= (n.7197+41A=) c.7113+41A= (n.7113+41A=) c.7083+41A= (n.7083+41A=) c.7035+41A= (n.7035+41A=) c.6996+41A= (n.6996+41A=) c.6921+41A= (n.6921+41A=) n.8792+41A= c.7110+41A= (n.7110+41A=) c.7080+41A= (n.7080+41A=) c.7032+41A= (n.7032+41A=) c.6999+41A= (n.6999+41A=) c.6969+41A= (n.6969+41A=) c.6966+41A= (n.6966+41A=) c.6918+41A= (n.6918+41A=) c.6882+41A= (n.6882+41A=) c.6879+41A= (n.6879+41A=) c.6834+41A= (n.6834+41A=) n.7499+41A= | |
X | g.77520748T>G | CA642690017 | ATRX | c.7200+40A>C (n.7200+40A>C) c.2298+40A>C (n.2298+40A>C) c.7086+40A>C (n.7086+40A>C) c.*6828+40A>C (n.*6828+40A>C) n.5520+40A>C n.431+40A>C c.7197+40A>C (n.7197+40A>C) c.7113+40A>C (n.7113+40A>C) c.7083+40A>C (n.7083+40A>C) c.7035+40A>C (n.7035+40A>C) c.6996+40A>C (n.6996+40A>C) c.6921+40A>C (n.6921+40A>C) n.8792+40A>C c.7110+40A>C (n.7110+40A>C) c.7080+40A>C (n.7080+40A>C) c.7032+40A>C (n.7032+40A>C) c.6999+40A>C (n.6999+40A>C) c.6969+40A>C (n.6969+40A>C) c.6966+40A>C (n.6966+40A>C) c.6918+40A>C (n.6918+40A>C) c.6882+40A>C (n.6882+40A>C) c.6879+40A>C (n.6879+40A>C) c.6834+40A>C (n.6834+40A>C) n.7499+40A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.77520748T= | CA2438933042 | ATRX | c.7200+40A= (n.7200+40A=) c.2298+40A= (n.2298+40A=) c.7086+40A= (n.7086+40A=) c.*6828+40A= (n.*6828+40A=) n.5520+40A= n.431+40A= c.7197+40A= (n.7197+40A=) c.7113+40A= (n.7113+40A=) c.7083+40A= (n.7083+40A=) c.7035+40A= (n.7035+40A=) c.6996+40A= (n.6996+40A=) c.6921+40A= (n.6921+40A=) n.8792+40A= c.7110+40A= (n.7110+40A=) c.7080+40A= (n.7080+40A=) c.7032+40A= (n.7032+40A=) c.6999+40A= (n.6999+40A=) c.6969+40A= (n.6969+40A=) c.6966+40A= (n.6966+40A=) c.6918+40A= (n.6918+40A=) c.6882+40A= (n.6882+40A=) c.6879+40A= (n.6879+40A=) c.6834+40A= (n.6834+40A=) n.7499+40A= | |
X | g.77520752C>A | CA2694139294 | ATRX | c.7200+36G>T (n.7200+36G>T) c.2298+36G>T (n.2298+36G>T) c.7086+36G>T (n.7086+36G>T) c.*6828+36G>T (n.*6828+36G>T) n.5520+36G>T n.431+36G>T c.7197+36G>T (n.7197+36G>T) c.7113+36G>T (n.7113+36G>T) c.7083+36G>T (n.7083+36G>T) c.7035+36G>T (n.7035+36G>T) c.6996+36G>T (n.6996+36G>T) c.6921+36G>T (n.6921+36G>T) n.8792+36G>T c.7110+36G>T (n.7110+36G>T) c.7080+36G>T (n.7080+36G>T) c.7032+36G>T (n.7032+36G>T) c.6999+36G>T (n.6999+36G>T) c.6969+36G>T (n.6969+36G>T) c.6966+36G>T (n.6966+36G>T) c.6918+36G>T (n.6918+36G>T) c.6882+36G>T (n.6882+36G>T) c.6879+36G>T (n.6879+36G>T) c.6834+36G>T (n.6834+36G>T) n.7499+36G>T | gnomAD v4 |
X | g.77520753del | CA2694139296 | ATRX | c.7200+35del (n.7200+35del) c.2298+35del (n.2298+35del) c.7086+35del (n.7086+35del) c.*6828+35del (n.*6828+35del) n.5520+35del n.431+35del c.7197+35del (n.7197+35del) c.7113+35del (n.7113+35del) c.7083+35del (n.7083+35del) c.7035+35del (n.7035+35del) c.6996+35del (n.6996+35del) c.6921+35del (n.6921+35del) n.8792+35del c.7110+35del (n.7110+35del) c.7080+35del (n.7080+35del) c.7032+35del (n.7032+35del) c.6999+35del (n.6999+35del) c.6969+35del (n.6969+35del) c.6966+35del (n.6966+35del) c.6918+35del (n.6918+35del) c.6882+35del (n.6882+35del) c.6879+35del (n.6879+35del) c.6834+35del (n.6834+35del) n.7499+35del | gnomAD v4 |
X | g.77520753A= | CA2438933043 | ATRX | c.7200+35T= (n.7200+35T=) c.2298+35T= (n.2298+35T=) c.7086+35T= (n.7086+35T=) c.*6828+35T= (n.*6828+35T=) n.5520+35T= n.431+35T= c.7197+35T= (n.7197+35T=) c.7113+35T= (n.7113+35T=) c.7083+35T= (n.7083+35T=) c.7035+35T= (n.7035+35T=) c.6996+35T= (n.6996+35T=) c.6921+35T= (n.6921+35T=) n.8792+35T= c.7110+35T= (n.7110+35T=) c.7080+35T= (n.7080+35T=) c.7032+35T= (n.7032+35T=) c.6999+35T= (n.6999+35T=) c.6969+35T= (n.6969+35T=) c.6966+35T= (n.6966+35T=) c.6918+35T= (n.6918+35T=) c.6882+35T= (n.6882+35T=) c.6879+35T= (n.6879+35T=) c.6834+35T= (n.6834+35T=) n.7499+35T= | |
X | g.77520753A>C | CA10457411 | ATRX | c.7200+35T>G (n.7200+35T>G) c.2298+35T>G (n.2298+35T>G) c.7086+35T>G (n.7086+35T>G) c.*6828+35T>G (n.*6828+35T>G) n.5520+35T>G n.431+35T>G c.7197+35T>G (n.7197+35T>G) c.7113+35T>G (n.7113+35T>G) c.7083+35T>G (n.7083+35T>G) c.7035+35T>G (n.7035+35T>G) c.6996+35T>G (n.6996+35T>G) c.6921+35T>G (n.6921+35T>G) n.8792+35T>G c.7110+35T>G (n.7110+35T>G) c.7080+35T>G (n.7080+35T>G) c.7032+35T>G (n.7032+35T>G) c.6999+35T>G (n.6999+35T>G) c.6969+35T>G (n.6969+35T>G) c.6966+35T>G (n.6966+35T>G) c.6918+35T>G (n.6918+35T>G) c.6882+35T>G (n.6882+35T>G) c.6879+35T>G (n.6879+35T>G) c.6834+35T>G (n.6834+35T>G) n.7499+35T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.77520753A>G | CA642690018 | ATRX | c.7200+35T>C (n.7200+35T>C) c.2298+35T>C (n.2298+35T>C) c.7086+35T>C (n.7086+35T>C) c.*6828+35T>C (n.*6828+35T>C) n.5520+35T>C n.431+35T>C c.7197+35T>C (n.7197+35T>C) c.7113+35T>C (n.7113+35T>C) c.7083+35T>C (n.7083+35T>C) c.7035+35T>C (n.7035+35T>C) c.6996+35T>C (n.6996+35T>C) c.6921+35T>C (n.6921+35T>C) n.8792+35T>C c.7110+35T>C (n.7110+35T>C) c.7080+35T>C (n.7080+35T>C) c.7032+35T>C (n.7032+35T>C) c.6999+35T>C (n.6999+35T>C) c.6969+35T>C (n.6969+35T>C) c.6966+35T>C (n.6966+35T>C) c.6918+35T>C (n.6918+35T>C) c.6882+35T>C (n.6882+35T>C) c.6879+35T>C (n.6879+35T>C) c.6834+35T>C (n.6834+35T>C) n.7499+35T>C | dbSNP gnomAD v2 gnomAD v4 |
X | g.77520754T>C | CA10457412 | ATRX | c.7200+34A>G (n.7200+34A>G) c.2298+34A>G (n.2298+34A>G) c.7086+34A>G (n.7086+34A>G) c.*6828+34A>G (n.*6828+34A>G) n.5520+34A>G n.431+34A>G c.7197+34A>G (n.7197+34A>G) c.7113+34A>G (n.7113+34A>G) c.7083+34A>G (n.7083+34A>G) c.7035+34A>G (n.7035+34A>G) c.6996+34A>G (n.6996+34A>G) c.6921+34A>G (n.6921+34A>G) n.8792+34A>G c.7110+34A>G (n.7110+34A>G) c.7080+34A>G (n.7080+34A>G) c.7032+34A>G (n.7032+34A>G) c.6999+34A>G (n.6999+34A>G) c.6969+34A>G (n.6969+34A>G) c.6966+34A>G (n.6966+34A>G) c.6918+34A>G (n.6918+34A>G) c.6882+34A>G (n.6882+34A>G) c.6879+34A>G (n.6879+34A>G) c.6834+34A>G (n.6834+34A>G) n.7499+34A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.77520754T= | CA2438933044 | ATRX | c.7200+34A= (n.7200+34A=) c.2298+34A= (n.2298+34A=) c.7086+34A= (n.7086+34A=) c.*6828+34A= (n.*6828+34A=) n.5520+34A= n.431+34A= c.7197+34A= (n.7197+34A=) c.7113+34A= (n.7113+34A=) c.7083+34A= (n.7083+34A=) c.7035+34A= (n.7035+34A=) c.6996+34A= (n.6996+34A=) c.6921+34A= (n.6921+34A=) n.8792+34A= c.7110+34A= (n.7110+34A=) c.7080+34A= (n.7080+34A=) c.7032+34A= (n.7032+34A=) c.6999+34A= (n.6999+34A=) c.6969+34A= (n.6969+34A=) c.6966+34A= (n.6966+34A=) c.6918+34A= (n.6918+34A=) c.6882+34A= (n.6882+34A=) c.6879+34A= (n.6879+34A=) c.6834+34A= (n.6834+34A=) n.7499+34A= | |
X | g.77520755A>G | CA658110162 | ATRX | c.7200+33T>C (n.7200+33T>C) c.2298+33T>C (n.2298+33T>C) c.7086+33T>C (n.7086+33T>C) c.*6828+33T>C (n.*6828+33T>C) n.5520+33T>C n.431+33T>C c.7197+33T>C (n.7197+33T>C) c.7113+33T>C (n.7113+33T>C) c.7083+33T>C (n.7083+33T>C) c.7035+33T>C (n.7035+33T>C) c.6996+33T>C (n.6996+33T>C) c.6921+33T>C (n.6921+33T>C) n.8792+33T>C c.7110+33T>C (n.7110+33T>C) c.7080+33T>C (n.7080+33T>C) c.7032+33T>C (n.7032+33T>C) c.6999+33T>C (n.6999+33T>C) c.6969+33T>C (n.6969+33T>C) c.6966+33T>C (n.6966+33T>C) c.6918+33T>C (n.6918+33T>C) c.6882+33T>C (n.6882+33T>C) c.6879+33T>C (n.6879+33T>C) c.6834+33T>C (n.6834+33T>C) n.7499+33T>C | COSMIC |
X | g.77520757C>A | CA10457413 | ATRX | c.7200+31G>T (n.7200+31G>T) c.2298+31G>T (n.2298+31G>T) c.7086+31G>T (n.7086+31G>T) c.*6828+31G>T (n.*6828+31G>T) n.5520+31G>T n.431+31G>T c.7197+31G>T (n.7197+31G>T) c.7113+31G>T (n.7113+31G>T) c.7083+31G>T (n.7083+31G>T) c.7035+31G>T (n.7035+31G>T) c.6996+31G>T (n.6996+31G>T) c.6921+31G>T (n.6921+31G>T) n.8792+31G>T c.7110+31G>T (n.7110+31G>T) c.7080+31G>T (n.7080+31G>T) c.7032+31G>T (n.7032+31G>T) c.6999+31G>T (n.6999+31G>T) c.6969+31G>T (n.6969+31G>T) c.6966+31G>T (n.6966+31G>T) c.6918+31G>T (n.6918+31G>T) c.6882+31G>T (n.6882+31G>T) c.6879+31G>T (n.6879+31G>T) c.6834+31G>T (n.6834+31G>T) n.7499+31G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.77520757C= | CA2438933045 | ATRX | c.7200+31G= (n.7200+31G=) c.2298+31G= (n.2298+31G=) c.7086+31G= (n.7086+31G=) c.*6828+31G= (n.*6828+31G=) n.5520+31G= n.431+31G= c.7197+31G= (n.7197+31G=) c.7113+31G= (n.7113+31G=) c.7083+31G= (n.7083+31G=) c.7035+31G= (n.7035+31G=) c.6996+31G= (n.6996+31G=) c.6921+31G= (n.6921+31G=) n.8792+31G= c.7110+31G= (n.7110+31G=) c.7080+31G= (n.7080+31G=) c.7032+31G= (n.7032+31G=) c.6999+31G= (n.6999+31G=) c.6969+31G= (n.6969+31G=) c.6966+31G= (n.6966+31G=) c.6918+31G= (n.6918+31G=) c.6882+31G= (n.6882+31G=) c.6879+31G= (n.6879+31G=) c.6834+31G= (n.6834+31G=) n.7499+31G= | |
X | g.77520760dup | CA2694139303 | ATRX | c.7200+28dup (n.7200+28dup) c.2298+28dup (n.2298+28dup) c.7086+28dup (n.7086+28dup) c.*6828+28dup (n.*6828+28dup) n.5520+28dup n.431+28dup c.7197+28dup (n.7197+28dup) c.7113+28dup (n.7113+28dup) c.7083+28dup (n.7083+28dup) c.7035+28dup (n.7035+28dup) c.6996+28dup (n.6996+28dup) c.6921+28dup (n.6921+28dup) n.8792+28dup c.7110+28dup (n.7110+28dup) c.7080+28dup (n.7080+28dup) c.7032+28dup (n.7032+28dup) c.6999+28dup (n.6999+28dup) c.6969+28dup (n.6969+28dup) c.6966+28dup (n.6966+28dup) c.6918+28dup (n.6918+28dup) c.6882+28dup (n.6882+28dup) c.6879+28dup (n.6879+28dup) c.6834+28dup (n.6834+28dup) n.7499+28dup | gnomAD v4 |
X | g.77520761G>A | CA2694139307 | ATRX | c.7200+27C>T (n.7200+27C>T) c.2298+27C>T (n.2298+27C>T) c.7086+27C>T (n.7086+27C>T) c.*6828+27C>T (n.*6828+27C>T) n.5520+27C>T n.431+27C>T c.7197+27C>T (n.7197+27C>T) c.7113+27C>T (n.7113+27C>T) c.7083+27C>T (n.7083+27C>T) c.7035+27C>T (n.7035+27C>T) c.6996+27C>T (n.6996+27C>T) c.6921+27C>T (n.6921+27C>T) n.8792+27C>T c.7110+27C>T (n.7110+27C>T) c.7080+27C>T (n.7080+27C>T) c.7032+27C>T (n.7032+27C>T) c.6999+27C>T (n.6999+27C>T) c.6969+27C>T (n.6969+27C>T) c.6966+27C>T (n.6966+27C>T) c.6918+27C>T (n.6918+27C>T) c.6882+27C>T (n.6882+27C>T) c.6879+27C>T (n.6879+27C>T) c.6834+27C>T (n.6834+27C>T) n.7499+27C>T | gnomAD v4 |
X | g.77520761G>C | CA10457414 | ATRX | c.7200+27C>G (n.7200+27C>G) c.2298+27C>G (n.2298+27C>G) c.7086+27C>G (n.7086+27C>G) c.*6828+27C>G (n.*6828+27C>G) n.5520+27C>G n.431+27C>G c.7197+27C>G (n.7197+27C>G) c.7113+27C>G (n.7113+27C>G) c.7083+27C>G (n.7083+27C>G) c.7035+27C>G (n.7035+27C>G) c.6996+27C>G (n.6996+27C>G) c.6921+27C>G (n.6921+27C>G) n.8792+27C>G c.7110+27C>G (n.7110+27C>G) c.7080+27C>G (n.7080+27C>G) c.7032+27C>G (n.7032+27C>G) c.6999+27C>G (n.6999+27C>G) c.6969+27C>G (n.6969+27C>G) c.6966+27C>G (n.6966+27C>G) c.6918+27C>G (n.6918+27C>G) c.6882+27C>G (n.6882+27C>G) c.6879+27C>G (n.6879+27C>G) c.6834+27C>G (n.6834+27C>G) n.7499+27C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.77520761G= | CA2438933046 | ATRX | c.7200+27C= (n.7200+27C=) c.2298+27C= (n.2298+27C=) c.7086+27C= (n.7086+27C=) c.*6828+27C= (n.*6828+27C=) n.5520+27C= n.431+27C= c.7197+27C= (n.7197+27C=) c.7113+27C= (n.7113+27C=) c.7083+27C= (n.7083+27C=) c.7035+27C= (n.7035+27C=) c.6996+27C= (n.6996+27C=) c.6921+27C= (n.6921+27C=) n.8792+27C= c.7110+27C= (n.7110+27C=) c.7080+27C= (n.7080+27C=) c.7032+27C= (n.7032+27C=) c.6999+27C= (n.6999+27C=) c.6969+27C= (n.6969+27C=) c.6966+27C= (n.6966+27C=) c.6918+27C= (n.6918+27C=) c.6882+27C= (n.6882+27C=) c.6879+27C= (n.6879+27C=) c.6834+27C= (n.6834+27C=) n.7499+27C= | |
X | g.77520763A>G | CA2499500456 | ATRX | c.7200+25T>C (n.7200+25T>C) c.2298+25T>C (n.2298+25T>C) c.7086+25T>C (n.7086+25T>C) c.*6828+25T>C (n.*6828+25T>C) n.5520+25T>C n.431+25T>C c.7197+25T>C (n.7197+25T>C) c.7113+25T>C (n.7113+25T>C) c.7083+25T>C (n.7083+25T>C) c.7035+25T>C (n.7035+25T>C) c.6996+25T>C (n.6996+25T>C) c.6921+25T>C (n.6921+25T>C) n.8792+25T>C c.7110+25T>C (n.7110+25T>C) c.7080+25T>C (n.7080+25T>C) c.7032+25T>C (n.7032+25T>C) c.6999+25T>C (n.6999+25T>C) c.6969+25T>C (n.6969+25T>C) c.6966+25T>C (n.6966+25T>C) c.6918+25T>C (n.6918+25T>C) c.6882+25T>C (n.6882+25T>C) c.6879+25T>C (n.6879+25T>C) c.6834+25T>C (n.6834+25T>C) n.7499+25T>C | |
X | g.77520764A= | CA2438933047 | ATRX | c.7200+24T= (n.7200+24T=) c.2298+24T= (n.2298+24T=) c.7086+24T= (n.7086+24T=) c.*6828+24T= (n.*6828+24T=) n.5520+24T= n.431+24T= c.7197+24T= (n.7197+24T=) c.7113+24T= (n.7113+24T=) c.7083+24T= (n.7083+24T=) c.7035+24T= (n.7035+24T=) c.6996+24T= (n.6996+24T=) c.6921+24T= (n.6921+24T=) n.8792+24T= c.7110+24T= (n.7110+24T=) c.7080+24T= (n.7080+24T=) c.7032+24T= (n.7032+24T=) c.6999+24T= (n.6999+24T=) c.6969+24T= (n.6969+24T=) c.6966+24T= (n.6966+24T=) c.6918+24T= (n.6918+24T=) c.6882+24T= (n.6882+24T=) c.6879+24T= (n.6879+24T=) c.6834+24T= (n.6834+24T=) n.7499+24T= | |
X | g.77520764A>C | CA10457415 | ATRX | c.7200+24T>G (n.7200+24T>G) c.2298+24T>G (n.2298+24T>G) c.7086+24T>G (n.7086+24T>G) c.*6828+24T>G (n.*6828+24T>G) n.5520+24T>G n.431+24T>G c.7197+24T>G (n.7197+24T>G) c.7113+24T>G (n.7113+24T>G) c.7083+24T>G (n.7083+24T>G) c.7035+24T>G (n.7035+24T>G) c.6996+24T>G (n.6996+24T>G) c.6921+24T>G (n.6921+24T>G) n.8792+24T>G c.7110+24T>G (n.7110+24T>G) c.7080+24T>G (n.7080+24T>G) c.7032+24T>G (n.7032+24T>G) c.6999+24T>G (n.6999+24T>G) c.6969+24T>G (n.6969+24T>G) c.6966+24T>G (n.6966+24T>G) c.6918+24T>G (n.6918+24T>G) c.6882+24T>G (n.6882+24T>G) c.6879+24T>G (n.6879+24T>G) c.6834+24T>G (n.6834+24T>G) n.7499+24T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.77520765_77520769delinsTAGTC | CA2438933048 | ATRX | c.7200+19_7200+23delinsGACTA (n.7200+19_7200+23delinsGACTA) c.2298+19_2298+23delinsGACTA (n.2298+19_2298+23delinsGACTA) c.7086+19_7086+23delinsGACTA (n.7086+19_7086+23delinsGACTA) c.*6828+19_*6828+23delinsGACTA (n.*6828+19_*6828+23delinsGACTA) n.5520+19_5520+23delinsGACTA n.431+19_431+23delinsGACTA c.7197+19_7197+23delinsGACTA (n.7197+19_7197+23delinsGACTA) c.7113+19_7113+23delinsGACTA (n.7113+19_7113+23delinsGACTA) c.7083+19_7083+23delinsGACTA (n.7083+19_7083+23delinsGACTA) c.7035+19_7035+23delinsGACTA (n.7035+19_7035+23delinsGACTA) c.6996+19_6996+23delinsGACTA (n.6996+19_6996+23delinsGACTA) c.6921+19_6921+23delinsGACTA (n.6921+19_6921+23delinsGACTA) n.8792+19_8792+23delinsGACTA c.7110+19_7110+23delinsGACTA (n.7110+19_7110+23delinsGACTA) c.7080+19_7080+23delinsGACTA (n.7080+19_7080+23delinsGACTA) c.7032+19_7032+23delinsGACTA (n.7032+19_7032+23delinsGACTA) c.6999+19_6999+23delinsGACTA (n.6999+19_6999+23delinsGACTA) c.6969+19_6969+23delinsGACTA (n.6969+19_6969+23delinsGACTA) c.6966+19_6966+23delinsGACTA (n.6966+19_6966+23delinsGACTA) c.6918+19_6918+23delinsGACTA (n.6918+19_6918+23delinsGACTA) c.6882+19_6882+23delinsGACTA (n.6882+19_6882+23delinsGACTA) c.6879+19_6879+23delinsGACTA (n.6879+19_6879+23delinsGACTA) c.6834+19_6834+23delinsGACTA (n.6834+19_6834+23delinsGACTA) n.7499+19_7499+23delinsGACTA | |
X | g.77520768_77520771del | CA10457416 | ATRX | c.7200+19_7200+22del (n.7200+19_7200+22del) c.2298+19_2298+22del (n.2298+19_2298+22del) c.7086+19_7086+22del (n.7086+19_7086+22del) c.*6828+19_*6828+22del (n.*6828+19_*6828+22del) n.5520+19_5520+22del n.431+19_431+22del c.7197+19_7197+22del (n.7197+19_7197+22del) c.7113+19_7113+22del (n.7113+19_7113+22del) c.7083+19_7083+22del (n.7083+19_7083+22del) c.7035+19_7035+22del (n.7035+19_7035+22del) c.6996+19_6996+22del (n.6996+19_6996+22del) c.6921+19_6921+22del (n.6921+19_6921+22del) n.8792+19_8792+22del c.7110+19_7110+22del (n.7110+19_7110+22del) c.7080+19_7080+22del (n.7080+19_7080+22del) c.7032+19_7032+22del (n.7032+19_7032+22del) c.6999+19_6999+22del (n.6999+19_6999+22del) c.6969+19_6969+22del (n.6969+19_6969+22del) c.6966+19_6966+22del (n.6966+19_6966+22del) c.6918+19_6918+22del (n.6918+19_6918+22del) c.6882+19_6882+22del (n.6882+19_6882+22del) c.6879+19_6879+22del (n.6879+19_6879+22del) c.6834+19_6834+22del (n.6834+19_6834+22del) n.7499+19_7499+22del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.77520767G>T | CA2694139332 | ATRX | c.7200+21C>A (n.7200+21C>A) c.2298+21C>A (n.2298+21C>A) c.7086+21C>A (n.7086+21C>A) c.*6828+21C>A (n.*6828+21C>A) n.5520+21C>A n.431+21C>A c.7197+21C>A (n.7197+21C>A) c.7113+21C>A (n.7113+21C>A) c.7083+21C>A (n.7083+21C>A) c.7035+21C>A (n.7035+21C>A) c.6996+21C>A (n.6996+21C>A) c.6921+21C>A (n.6921+21C>A) n.8792+21C>A c.7110+21C>A (n.7110+21C>A) c.7080+21C>A (n.7080+21C>A) c.7032+21C>A (n.7032+21C>A) c.6999+21C>A (n.6999+21C>A) c.6969+21C>A (n.6969+21C>A) c.6966+21C>A (n.6966+21C>A) c.6918+21C>A (n.6918+21C>A) c.6882+21C>A (n.6882+21C>A) c.6879+21C>A (n.6879+21C>A) c.6834+21C>A (n.6834+21C>A) n.7499+21C>A | gnomAD v4 |
X | g.77520770dup | CA2694139333 | ATRX | c.7200+18dup (n.7200+18dup) c.2298+18dup (n.2298+18dup) c.7086+18dup (n.7086+18dup) c.*6828+18dup (n.*6828+18dup) n.5520+18dup n.431+18dup c.7197+18dup (n.7197+18dup) c.7113+18dup (n.7113+18dup) c.7083+18dup (n.7083+18dup) c.7035+18dup (n.7035+18dup) c.6996+18dup (n.6996+18dup) c.6921+18dup (n.6921+18dup) n.8792+18dup c.7110+18dup (n.7110+18dup) c.7080+18dup (n.7080+18dup) c.7032+18dup (n.7032+18dup) c.6999+18dup (n.6999+18dup) c.6969+18dup (n.6969+18dup) c.6966+18dup (n.6966+18dup) c.6918+18dup (n.6918+18dup) c.6882+18dup (n.6882+18dup) c.6879+18dup (n.6879+18dup) c.6834+18dup (n.6834+18dup) n.7499+18dup | gnomAD v4 |
X | g.77520770_77520772del | CA2514490153 | ATRX | c.7200+16_7200+18del (n.7200+16_7200+18del) c.2298+16_2298+18del (n.2298+16_2298+18del) c.7086+16_7086+18del (n.7086+16_7086+18del) c.*6828+16_*6828+18del (n.*6828+16_*6828+18del) n.5520+16_5520+18del n.431+16_431+18del c.7197+16_7197+18del (n.7197+16_7197+18del) c.7113+16_7113+18del (n.7113+16_7113+18del) c.7083+16_7083+18del (n.7083+16_7083+18del) c.7035+16_7035+18del (n.7035+16_7035+18del) c.6996+16_6996+18del (n.6996+16_6996+18del) c.6921+16_6921+18del (n.6921+16_6921+18del) n.8792+16_8792+18del c.7110+16_7110+18del (n.7110+16_7110+18del) c.7080+16_7080+18del (n.7080+16_7080+18del) c.7032+16_7032+18del (n.7032+16_7032+18del) c.6999+16_6999+18del (n.6999+16_6999+18del) c.6969+16_6969+18del (n.6969+16_6969+18del) c.6966+16_6966+18del (n.6966+16_6966+18del) c.6918+16_6918+18del (n.6918+16_6918+18del) c.6882+16_6882+18del (n.6882+16_6882+18del) c.6879+16_6879+18del (n.6879+16_6879+18del) c.6834+16_6834+18del (n.6834+16_6834+18del) n.7499+16_7499+18del | |
X | g.77520773C= | CA2438933049 | ATRX | c.7200+15G= (n.7200+15G=) c.2298+15G= (n.2298+15G=) c.7086+15G= (n.7086+15G=) c.*6828+15G= (n.*6828+15G=) n.5520+15G= n.431+15G= c.7197+15G= (n.7197+15G=) c.7113+15G= (n.7113+15G=) c.7083+15G= (n.7083+15G=) c.7035+15G= (n.7035+15G=) c.6996+15G= (n.6996+15G=) c.6921+15G= (n.6921+15G=) n.8792+15G= c.7110+15G= (n.7110+15G=) c.7080+15G= (n.7080+15G=) c.7032+15G= (n.7032+15G=) c.6999+15G= (n.6999+15G=) c.6969+15G= (n.6969+15G=) c.6966+15G= (n.6966+15G=) c.6918+15G= (n.6918+15G=) c.6882+15G= (n.6882+15G=) c.6879+15G= (n.6879+15G=) c.6834+15G= (n.6834+15G=) n.7499+15G= | |
X | g.77520773C>T | CA10457417 | ATRX | c.7200+15G>A (n.7200+15G>A) c.2298+15G>A (n.2298+15G>A) c.7086+15G>A (n.7086+15G>A) c.*6828+15G>A (n.*6828+15G>A) n.5520+15G>A n.431+15G>A c.7197+15G>A (n.7197+15G>A) c.7113+15G>A (n.7113+15G>A) c.7083+15G>A (n.7083+15G>A) c.7035+15G>A (n.7035+15G>A) c.6996+15G>A (n.6996+15G>A) c.6921+15G>A (n.6921+15G>A) n.8792+15G>A c.7110+15G>A (n.7110+15G>A) c.7080+15G>A (n.7080+15G>A) c.7032+15G>A (n.7032+15G>A) c.6999+15G>A (n.6999+15G>A) c.6969+15G>A (n.6969+15G>A) c.6966+15G>A (n.6966+15G>A) c.6918+15G>A (n.6918+15G>A) c.6882+15G>A (n.6882+15G>A) c.6879+15G>A (n.6879+15G>A) c.6834+15G>A (n.6834+15G>A) n.7499+15G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.77520774G>A | CA1134467930 | ATRX | c.7200+14C>T (n.7200+14C>T) c.2298+14C>T (n.2298+14C>T) c.7086+14C>T (n.7086+14C>T) c.*6828+14C>T (n.*6828+14C>T) n.5520+14C>T n.431+14C>T c.7197+14C>T (n.7197+14C>T) c.7113+14C>T (n.7113+14C>T) c.7083+14C>T (n.7083+14C>T) c.7035+14C>T (n.7035+14C>T) c.6996+14C>T (n.6996+14C>T) c.6921+14C>T (n.6921+14C>T) n.8792+14C>T c.7110+14C>T (n.7110+14C>T) c.7080+14C>T (n.7080+14C>T) c.7032+14C>T (n.7032+14C>T) c.6999+14C>T (n.6999+14C>T) c.6969+14C>T (n.6969+14C>T) c.6966+14C>T (n.6966+14C>T) c.6918+14C>T (n.6918+14C>T) c.6882+14C>T (n.6882+14C>T) c.6879+14C>T (n.6879+14C>T) c.6834+14C>T (n.6834+14C>T) n.7499+14C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.77520774G>C | CA2738571335 | ATRX | c.7200+14C>G (n.7200+14C>G) c.2298+14C>G (n.2298+14C>G) c.7086+14C>G (n.7086+14C>G) c.*6828+14C>G (n.*6828+14C>G) n.5520+14C>G n.431+14C>G c.7197+14C>G (n.7197+14C>G) c.7113+14C>G (n.7113+14C>G) c.7083+14C>G (n.7083+14C>G) c.7035+14C>G (n.7035+14C>G) c.6996+14C>G (n.6996+14C>G) c.6921+14C>G (n.6921+14C>G) n.8792+14C>G c.7110+14C>G (n.7110+14C>G) c.7080+14C>G (n.7080+14C>G) c.7032+14C>G (n.7032+14C>G) c.6999+14C>G (n.6999+14C>G) c.6969+14C>G (n.6969+14C>G) c.6966+14C>G (n.6966+14C>G) c.6918+14C>G (n.6918+14C>G) c.6882+14C>G (n.6882+14C>G) c.6879+14C>G (n.6879+14C>G) c.6834+14C>G (n.6834+14C>G) n.7499+14C>G | dbSNP |
X | g.77520774G= | CA2438933050 | ATRX | c.7200+14C= (n.7200+14C=) c.2298+14C= (n.2298+14C=) c.7086+14C= (n.7086+14C=) c.*6828+14C= (n.*6828+14C=) n.5520+14C= n.431+14C= c.7197+14C= (n.7197+14C=) c.7113+14C= (n.7113+14C=) c.7083+14C= (n.7083+14C=) c.7035+14C= (n.7035+14C=) c.6996+14C= (n.6996+14C=) c.6921+14C= (n.6921+14C=) n.8792+14C= c.7110+14C= (n.7110+14C=) c.7080+14C= (n.7080+14C=) c.7032+14C= (n.7032+14C=) c.6999+14C= (n.6999+14C=) c.6969+14C= (n.6969+14C=) c.6966+14C= (n.6966+14C=) c.6918+14C= (n.6918+14C=) c.6882+14C= (n.6882+14C=) c.6879+14C= (n.6879+14C=) c.6834+14C= (n.6834+14C=) n.7499+14C= | |
X | g.77520774G>T | CA2579648666 | ATRX | c.7200+14C>A (n.7200+14C>A) c.2298+14C>A (n.2298+14C>A) c.7086+14C>A (n.7086+14C>A) c.*6828+14C>A (n.*6828+14C>A) n.5520+14C>A n.431+14C>A c.7197+14C>A (n.7197+14C>A) c.7113+14C>A (n.7113+14C>A) c.7083+14C>A (n.7083+14C>A) c.7035+14C>A (n.7035+14C>A) c.6996+14C>A (n.6996+14C>A) c.6921+14C>A (n.6921+14C>A) n.8792+14C>A c.7110+14C>A (n.7110+14C>A) c.7080+14C>A (n.7080+14C>A) c.7032+14C>A (n.7032+14C>A) c.6999+14C>A (n.6999+14C>A) c.6969+14C>A (n.6969+14C>A) c.6966+14C>A (n.6966+14C>A) c.6918+14C>A (n.6918+14C>A) c.6882+14C>A (n.6882+14C>A) c.6879+14C>A (n.6879+14C>A) c.6834+14C>A (n.6834+14C>A) n.7499+14C>A | gnomAD v4 |
X | g.77520775_77520778del | CA2537386148 | ATRX | c.7200+11_7200+14del (n.7200+11_7200+14del) c.2298+11_2298+14del (n.2298+11_2298+14del) c.7086+11_7086+14del (n.7086+11_7086+14del) c.*6828+11_*6828+14del (n.*6828+11_*6828+14del) n.5520+11_5520+14del n.431+11_431+14del c.7197+11_7197+14del (n.7197+11_7197+14del) c.7113+11_7113+14del (n.7113+11_7113+14del) c.7083+11_7083+14del (n.7083+11_7083+14del) c.7035+11_7035+14del (n.7035+11_7035+14del) c.6996+11_6996+14del (n.6996+11_6996+14del) c.6921+11_6921+14del (n.6921+11_6921+14del) n.8792+11_8792+14del c.7110+11_7110+14del (n.7110+11_7110+14del) c.7080+11_7080+14del (n.7080+11_7080+14del) c.7032+11_7032+14del (n.7032+11_7032+14del) c.6999+11_6999+14del (n.6999+11_6999+14del) c.6969+11_6969+14del (n.6969+11_6969+14del) c.6966+11_6966+14del (n.6966+11_6966+14del) c.6918+11_6918+14del (n.6918+11_6918+14del) c.6882+11_6882+14del (n.6882+11_6882+14del) c.6879+11_6879+14del (n.6879+11_6879+14del) c.6834+11_6834+14del (n.6834+11_6834+14del) n.7499+11_7499+14del | |
X | g.77520776C>A | CA2738721870 | ATRX | c.7200+12G>T (n.7200+12G>T) c.2298+12G>T (n.2298+12G>T) c.7086+12G>T (n.7086+12G>T) c.*6828+12G>T (n.*6828+12G>T) n.5520+12G>T n.431+12G>T c.7197+12G>T (n.7197+12G>T) c.7113+12G>T (n.7113+12G>T) c.7083+12G>T (n.7083+12G>T) c.7035+12G>T (n.7035+12G>T) c.6996+12G>T (n.6996+12G>T) c.6921+12G>T (n.6921+12G>T) n.8792+12G>T c.7110+12G>T (n.7110+12G>T) c.7080+12G>T (n.7080+12G>T) c.7032+12G>T (n.7032+12G>T) c.6999+12G>T (n.6999+12G>T) c.6969+12G>T (n.6969+12G>T) c.6966+12G>T (n.6966+12G>T) c.6918+12G>T (n.6918+12G>T) c.6882+12G>T (n.6882+12G>T) c.6879+12G>T (n.6879+12G>T) c.6834+12G>T (n.6834+12G>T) n.7499+12G>T | dbSNP |
X | g.77520776C>G | CA2738721977 | ATRX | c.7200+12G>C (n.7200+12G>C) c.2298+12G>C (n.2298+12G>C) c.7086+12G>C (n.7086+12G>C) c.*6828+12G>C (n.*6828+12G>C) n.5520+12G>C n.431+12G>C c.7197+12G>C (n.7197+12G>C) c.7113+12G>C (n.7113+12G>C) c.7083+12G>C (n.7083+12G>C) c.7035+12G>C (n.7035+12G>C) c.6996+12G>C (n.6996+12G>C) c.6921+12G>C (n.6921+12G>C) n.8792+12G>C c.7110+12G>C (n.7110+12G>C) c.7080+12G>C (n.7080+12G>C) c.7032+12G>C (n.7032+12G>C) c.6999+12G>C (n.6999+12G>C) c.6969+12G>C (n.6969+12G>C) c.6966+12G>C (n.6966+12G>C) c.6918+12G>C (n.6918+12G>C) c.6882+12G>C (n.6882+12G>C) c.6879+12G>C (n.6879+12G>C) c.6834+12G>C (n.6834+12G>C) n.7499+12G>C | dbSNP |
X | g.77520776C>T | CA2738721978 | ATRX | c.7200+12G>A (n.7200+12G>A) c.2298+12G>A (n.2298+12G>A) c.7086+12G>A (n.7086+12G>A) c.*6828+12G>A (n.*6828+12G>A) n.5520+12G>A n.431+12G>A c.7197+12G>A (n.7197+12G>A) c.7113+12G>A (n.7113+12G>A) c.7083+12G>A (n.7083+12G>A) c.7035+12G>A (n.7035+12G>A) c.6996+12G>A (n.6996+12G>A) c.6921+12G>A (n.6921+12G>A) n.8792+12G>A c.7110+12G>A (n.7110+12G>A) c.7080+12G>A (n.7080+12G>A) c.7032+12G>A (n.7032+12G>A) c.6999+12G>A (n.6999+12G>A) c.6969+12G>A (n.6969+12G>A) c.6966+12G>A (n.6966+12G>A) c.6918+12G>A (n.6918+12G>A) c.6882+12G>A (n.6882+12G>A) c.6879+12G>A (n.6879+12G>A) c.6834+12G>A (n.6834+12G>A) n.7499+12G>A | dbSNP |
X | g.77520778G>C | CA10457419 | ATRX | c.7200+10C>G (n.7200+10C>G) c.2298+10C>G (n.2298+10C>G) c.7086+10C>G (n.7086+10C>G) c.*6828+10C>G (n.*6828+10C>G) n.5520+10C>G n.431+10C>G c.7197+10C>G (n.7197+10C>G) c.7113+10C>G (n.7113+10C>G) c.7083+10C>G (n.7083+10C>G) c.7035+10C>G (n.7035+10C>G) c.6996+10C>G (n.6996+10C>G) c.6921+10C>G (n.6921+10C>G) n.8792+10C>G c.7110+10C>G (n.7110+10C>G) c.7080+10C>G (n.7080+10C>G) c.7032+10C>G (n.7032+10C>G) c.6999+10C>G (n.6999+10C>G) c.6969+10C>G (n.6969+10C>G) c.6966+10C>G (n.6966+10C>G) c.6918+10C>G (n.6918+10C>G) c.6882+10C>G (n.6882+10C>G) c.6879+10C>G (n.6879+10C>G) c.6834+10C>G (n.6834+10C>G) n.7499+10C>G | ClinVar dbSNP ExAC |
X | g.77520778G= | CA2438933052 | ATRX | c.7200+10C= (n.7200+10C=) c.2298+10C= (n.2298+10C=) c.7086+10C= (n.7086+10C=) c.*6828+10C= (n.*6828+10C=) n.5520+10C= n.431+10C= c.7197+10C= (n.7197+10C=) c.7113+10C= (n.7113+10C=) c.7083+10C= (n.7083+10C=) c.7035+10C= (n.7035+10C=) c.6996+10C= (n.6996+10C=) c.6921+10C= (n.6921+10C=) n.8792+10C= c.7110+10C= (n.7110+10C=) c.7080+10C= (n.7080+10C=) c.7032+10C= (n.7032+10C=) c.6999+10C= (n.6999+10C=) c.6969+10C= (n.6969+10C=) c.6966+10C= (n.6966+10C=) c.6918+10C= (n.6918+10C=) c.6882+10C= (n.6882+10C=) c.6879+10C= (n.6879+10C=) c.6834+10C= (n.6834+10C=) n.7499+10C= | |
X | g.77520778G>T | CA2573159519 | ATRX | c.7200+10C>A (n.7200+10C>A) c.2298+10C>A (n.2298+10C>A) c.7086+10C>A (n.7086+10C>A) c.*6828+10C>A (n.*6828+10C>A) n.5520+10C>A n.431+10C>A c.7197+10C>A (n.7197+10C>A) c.7113+10C>A (n.7113+10C>A) c.7083+10C>A (n.7083+10C>A) c.7035+10C>A (n.7035+10C>A) c.6996+10C>A (n.6996+10C>A) c.6921+10C>A (n.6921+10C>A) n.8792+10C>A c.7110+10C>A (n.7110+10C>A) c.7080+10C>A (n.7080+10C>A) c.7032+10C>A (n.7032+10C>A) c.6999+10C>A (n.6999+10C>A) c.6969+10C>A (n.6969+10C>A) c.6966+10C>A (n.6966+10C>A) c.6918+10C>A (n.6918+10C>A) c.6882+10C>A (n.6882+10C>A) c.6879+10C>A (n.6879+10C>A) c.6834+10C>A (n.6834+10C>A) n.7499+10C>A | ClinVar dbSNP |
X | g.77520778_77520779delinsGA | CA2438933051 | ATRX | c.7200+9_7200+10delinsTC (n.7200+9_7200+10delinsTC) c.2298+9_2298+10delinsTC (n.2298+9_2298+10delinsTC) c.7086+9_7086+10delinsTC (n.7086+9_7086+10delinsTC) c.*6828+9_*6828+10delinsTC (n.*6828+9_*6828+10delinsTC) n.5520+9_5520+10delinsTC n.431+9_431+10delinsTC c.7197+9_7197+10delinsTC (n.7197+9_7197+10delinsTC) c.7113+9_7113+10delinsTC (n.7113+9_7113+10delinsTC) c.7083+9_7083+10delinsTC (n.7083+9_7083+10delinsTC) c.7035+9_7035+10delinsTC (n.7035+9_7035+10delinsTC) c.6996+9_6996+10delinsTC (n.6996+9_6996+10delinsTC) c.6921+9_6921+10delinsTC (n.6921+9_6921+10delinsTC) n.8792+9_8792+10delinsTC c.7110+9_7110+10delinsTC (n.7110+9_7110+10delinsTC) c.7080+9_7080+10delinsTC (n.7080+9_7080+10delinsTC) c.7032+9_7032+10delinsTC (n.7032+9_7032+10delinsTC) c.6999+9_6999+10delinsTC (n.6999+9_6999+10delinsTC) c.6969+9_6969+10delinsTC (n.6969+9_6969+10delinsTC) c.6966+9_6966+10delinsTC (n.6966+9_6966+10delinsTC) c.6918+9_6918+10delinsTC (n.6918+9_6918+10delinsTC) c.6882+9_6882+10delinsTC (n.6882+9_6882+10delinsTC) c.6879+9_6879+10delinsTC (n.6879+9_6879+10delinsTC) c.6834+9_6834+10delinsTC (n.6834+9_6834+10delinsTC) n.7499+9_7499+10delinsTC | |
X | g.77520780del | CA10457418 | ATRX | c.7200+9del (n.7200+9del) c.2298+9del (n.2298+9del) c.7086+9del (n.7086+9del) c.*6828+9del (n.*6828+9del) n.5520+9del n.431+9del c.7197+9del (n.7197+9del) c.7113+9del (n.7113+9del) c.7083+9del (n.7083+9del) c.7035+9del (n.7035+9del) c.6996+9del (n.6996+9del) c.6921+9del (n.6921+9del) n.8792+9del c.7110+9del (n.7110+9del) c.7080+9del (n.7080+9del) c.7032+9del (n.7032+9del) c.6999+9del (n.6999+9del) c.6969+9del (n.6969+9del) c.6966+9del (n.6966+9del) c.6918+9del (n.6918+9del) c.6882+9del (n.6882+9del) c.6879+9del (n.6879+9del) c.6834+9del (n.6834+9del) n.7499+9del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.77520783C>A | CA2738721979 | ATRX | c.7200+5G>T (n.7200+5G>T) c.2298+5G>T (n.2298+5G>T) c.7086+5G>T (n.7086+5G>T) c.*6828+5G>T (n.*6828+5G>T) n.5520+5G>T n.431+5G>T c.7197+5G>T (n.7197+5G>T) c.7113+5G>T (n.7113+5G>T) c.7083+5G>T (n.7083+5G>T) c.7035+5G>T (n.7035+5G>T) c.6996+5G>T (n.6996+5G>T) c.6921+5G>T (n.6921+5G>T) n.8792+5G>T c.7110+5G>T (n.7110+5G>T) c.7080+5G>T (n.7080+5G>T) c.7032+5G>T (n.7032+5G>T) c.6999+5G>T (n.6999+5G>T) c.6969+5G>T (n.6969+5G>T) c.6966+5G>T (n.6966+5G>T) c.6918+5G>T (n.6918+5G>T) c.6882+5G>T (n.6882+5G>T) c.6879+5G>T (n.6879+5G>T) c.6834+5G>T (n.6834+5G>T) n.7499+5G>T | dbSNP |
X | g.77520784T>C | CA2497030176 | ATRX | c.7200+4A>G (n.7200+4A>G) c.2298+4A>G (n.2298+4A>G) c.7086+4A>G (n.7086+4A>G) c.*6828+4A>G (n.*6828+4A>G) n.5520+4A>G n.431+4A>G c.7197+4A>G (n.7197+4A>G) c.7113+4A>G (n.7113+4A>G) c.7083+4A>G (n.7083+4A>G) c.7035+4A>G (n.7035+4A>G) c.6996+4A>G (n.6996+4A>G) c.6921+4A>G (n.6921+4A>G) n.8792+4A>G c.7110+4A>G (n.7110+4A>G) c.7080+4A>G (n.7080+4A>G) c.7032+4A>G (n.7032+4A>G) c.6999+4A>G (n.6999+4A>G) c.6969+4A>G (n.6969+4A>G) c.6966+4A>G (n.6966+4A>G) c.6918+4A>G (n.6918+4A>G) c.6882+4A>G (n.6882+4A>G) c.6879+4A>G (n.6879+4A>G) c.6834+4A>G (n.6834+4A>G) n.7499+4A>G | |
X | g.77520786A>C | CA413706890 | ATRX | c.7200+2T>G (n.7200+2T>G) c.2298+2T>G (n.2298+2T>G) c.7086+2T>G (n.7086+2T>G) c.*6828+2T>G (n.*6828+2T>G) n.5520+2T>G n.431+2T>G c.7197+2T>G (n.7197+2T>G) c.7113+2T>G (n.7113+2T>G) c.7083+2T>G (n.7083+2T>G) c.7035+2T>G (n.7035+2T>G) c.6996+2T>G (n.6996+2T>G) c.6921+2T>G (n.6921+2T>G) n.8792+2T>G c.7110+2T>G (n.7110+2T>G) c.7080+2T>G (n.7080+2T>G) c.7032+2T>G (n.7032+2T>G) c.6999+2T>G (n.6999+2T>G) c.6969+2T>G (n.6969+2T>G) c.6966+2T>G (n.6966+2T>G) c.6918+2T>G (n.6918+2T>G) c.6882+2T>G (n.6882+2T>G) c.6879+2T>G (n.6879+2T>G) c.6834+2T>G (n.6834+2T>G) n.7499+2T>G | |
X | g.77520786A>G | CA413706887 | ATRX | c.7200+2T>C (n.7200+2T>C) c.2298+2T>C (n.2298+2T>C) c.7086+2T>C (n.7086+2T>C) c.*6828+2T>C (n.*6828+2T>C) n.5520+2T>C n.431+2T>C c.7197+2T>C (n.7197+2T>C) c.7113+2T>C (n.7113+2T>C) c.7083+2T>C (n.7083+2T>C) c.7035+2T>C (n.7035+2T>C) c.6996+2T>C (n.6996+2T>C) c.6921+2T>C (n.6921+2T>C) n.8792+2T>C c.7110+2T>C (n.7110+2T>C) c.7080+2T>C (n.7080+2T>C) c.7032+2T>C (n.7032+2T>C) c.6999+2T>C (n.6999+2T>C) c.6969+2T>C (n.6969+2T>C) c.6966+2T>C (n.6966+2T>C) c.6918+2T>C (n.6918+2T>C) c.6882+2T>C (n.6882+2T>C) c.6879+2T>C (n.6879+2T>C) c.6834+2T>C (n.6834+2T>C) n.7499+2T>C | |
X | g.77520786A>T | CA413706886 | ATRX | c.7200+2T>A (n.7200+2T>A) c.2298+2T>A (n.2298+2T>A) c.7086+2T>A (n.7086+2T>A) c.*6828+2T>A (n.*6828+2T>A) n.5520+2T>A n.431+2T>A c.7197+2T>A (n.7197+2T>A) c.7113+2T>A (n.7113+2T>A) c.7083+2T>A (n.7083+2T>A) c.7035+2T>A (n.7035+2T>A) c.6996+2T>A (n.6996+2T>A) c.6921+2T>A (n.6921+2T>A) n.8792+2T>A c.7110+2T>A (n.7110+2T>A) c.7080+2T>A (n.7080+2T>A) c.7032+2T>A (n.7032+2T>A) c.6999+2T>A (n.6999+2T>A) c.6969+2T>A (n.6969+2T>A) c.6966+2T>A (n.6966+2T>A) c.6918+2T>A (n.6918+2T>A) c.6882+2T>A (n.6882+2T>A) c.6879+2T>A (n.6879+2T>A) c.6834+2T>A (n.6834+2T>A) n.7499+2T>A | |
X | g.77520787C>A | CA413706892 | ATRX | c.7200+1G>T (n.7200+1G>T) c.2298+1G>T (n.2298+1G>T) c.7086+1G>T (n.7086+1G>T) c.*6828+1G>T (n.*6828+1G>T) n.5520+1G>T n.431+1G>T c.7197+1G>T (n.7197+1G>T) c.7113+1G>T (n.7113+1G>T) c.7083+1G>T (n.7083+1G>T) c.7035+1G>T (n.7035+1G>T) c.6996+1G>T (n.6996+1G>T) c.6921+1G>T (n.6921+1G>T) n.8792+1G>T c.7110+1G>T (n.7110+1G>T) c.7080+1G>T (n.7080+1G>T) c.7032+1G>T (n.7032+1G>T) c.6999+1G>T (n.6999+1G>T) c.6969+1G>T (n.6969+1G>T) c.6966+1G>T (n.6966+1G>T) c.6918+1G>T (n.6918+1G>T) c.6882+1G>T (n.6882+1G>T) c.6879+1G>T (n.6879+1G>T) c.6834+1G>T (n.6834+1G>T) n.7499+1G>T | |
X | g.77520787C>G | CA413706894 | ATRX | c.7200+1G>C (n.7200+1G>C) c.2298+1G>C (n.2298+1G>C) c.7086+1G>C (n.7086+1G>C) c.*6828+1G>C (n.*6828+1G>C) n.5520+1G>C n.431+1G>C c.7197+1G>C (n.7197+1G>C) c.7113+1G>C (n.7113+1G>C) c.7083+1G>C (n.7083+1G>C) c.7035+1G>C (n.7035+1G>C) c.6996+1G>C (n.6996+1G>C) c.6921+1G>C (n.6921+1G>C) n.8792+1G>C c.7110+1G>C (n.7110+1G>C) c.7080+1G>C (n.7080+1G>C) c.7032+1G>C (n.7032+1G>C) c.6999+1G>C (n.6999+1G>C) c.6969+1G>C (n.6969+1G>C) c.6966+1G>C (n.6966+1G>C) c.6918+1G>C (n.6918+1G>C) c.6882+1G>C (n.6882+1G>C) c.6879+1G>C (n.6879+1G>C) c.6834+1G>C (n.6834+1G>C) n.7499+1G>C | |
X | g.77520787C>T | CA413706896 | ATRX | c.7200+1G>A (n.7200+1G>A) c.2298+1G>A (n.2298+1G>A) c.7086+1G>A (n.7086+1G>A) c.*6828+1G>A (n.*6828+1G>A) n.5520+1G>A n.431+1G>A c.7197+1G>A (n.7197+1G>A) c.7113+1G>A (n.7113+1G>A) c.7083+1G>A (n.7083+1G>A) c.7035+1G>A (n.7035+1G>A) c.6996+1G>A (n.6996+1G>A) c.6921+1G>A (n.6921+1G>A) n.8792+1G>A c.7110+1G>A (n.7110+1G>A) c.7080+1G>A (n.7080+1G>A) c.7032+1G>A (n.7032+1G>A) c.6999+1G>A (n.6999+1G>A) c.6969+1G>A (n.6969+1G>A) c.6966+1G>A (n.6966+1G>A) c.6918+1G>A (n.6918+1G>A) c.6882+1G>A (n.6882+1G>A) c.6879+1G>A (n.6879+1G>A) c.6834+1G>A (n.6834+1G>A) n.7499+1G>A | |
X | g.77520788C>A | CA413706898 | ATRX | c.7200G>T (p.Met2400Ile) c.2298G>T (p.Met766Ile) c.7086G>T (p.Met2362Ile) c.*6828G>T (n.*6828G>T) n.5520G>T n.431G>T c.7197G>T (p.Met2399Ile) c.7113G>T (p.Met2371Ile) c.7083G>T (p.Met2361Ile) c.7035G>T (p.Met2345Ile) c.6996G>T (p.Met2332Ile) c.6921G>T (p.Met2307Ile) n.8792G>T c.7110G>T (p.Met2370Ile) c.7080G>T (p.Met2360Ile) c.7032G>T (p.Met2344Ile) c.6999G>T (p.Met2333Ile) c.6969G>T (p.Met2323Ile) c.6966G>T (p.Met2322Ile) c.6918G>T (p.Met2306Ile) c.6882G>T (p.Met2294Ile) c.6879G>T (p.Met2293Ile) c.6834G>T (p.Met2278Ile) n.7499G>T | |
X | g.77520788C>G | CA413706900 | ATRX | c.7200G>C (p.Met2400Ile) c.2298G>C (p.Met766Ile) c.7086G>C (p.Met2362Ile) c.*6828G>C (n.*6828G>C) n.5520G>C n.431G>C c.7197G>C (p.Met2399Ile) c.7113G>C (p.Met2371Ile) c.7083G>C (p.Met2361Ile) c.7035G>C (p.Met2345Ile) c.6996G>C (p.Met2332Ile) c.6921G>C (p.Met2307Ile) n.8792G>C c.7110G>C (p.Met2370Ile) c.7080G>C (p.Met2360Ile) c.7032G>C (p.Met2344Ile) c.6999G>C (p.Met2333Ile) c.6969G>C (p.Met2323Ile) c.6966G>C (p.Met2322Ile) c.6918G>C (p.Met2306Ile) c.6882G>C (p.Met2294Ile) c.6879G>C (p.Met2293Ile) c.6834G>C (p.Met2278Ile) n.7499G>C | |
X | g.77520788C>T | CA413706902 | ATRX | c.7200G>A (p.Met2400Ile) c.2298G>A (p.Met766Ile) c.7086G>A (p.Met2362Ile) c.*6828G>A (n.*6828G>A) n.5520G>A n.431G>A c.7197G>A (p.Met2399Ile) c.7113G>A (p.Met2371Ile) c.7083G>A (p.Met2361Ile) c.7035G>A (p.Met2345Ile) c.6996G>A (p.Met2332Ile) c.6921G>A (p.Met2307Ile) n.8792G>A c.7110G>A (p.Met2370Ile) c.7080G>A (p.Met2360Ile) c.7032G>A (p.Met2344Ile) c.6999G>A (p.Met2333Ile) c.6969G>A (p.Met2323Ile) c.6966G>A (p.Met2322Ile) c.6918G>A (p.Met2306Ile) c.6882G>A (p.Met2294Ile) c.6879G>A (p.Met2293Ile) c.6834G>A (p.Met2278Ile) n.7499G>A | |
X | g.77520789A>C | CA413706903 | ATRX | c.7199T>G (p.Met2400Arg) c.2297T>G (p.Met766Arg) c.7085T>G (p.Met2362Arg) c.*6827T>G (n.*6827T>G) n.5519T>G n.430T>G c.7196T>G (p.Met2399Arg) c.7112T>G (p.Met2371Arg) c.7082T>G (p.Met2361Arg) c.7034T>G (p.Met2345Arg) c.6995T>G (p.Met2332Arg) c.6920T>G (p.Met2307Arg) n.8791T>G c.7109T>G (p.Met2370Arg) c.7079T>G (p.Met2360Arg) c.7031T>G (p.Met2344Arg) c.6998T>G (p.Met2333Arg) c.6968T>G (p.Met2323Arg) c.6965T>G (p.Met2322Arg) c.6917T>G (p.Met2306Arg) c.6881T>G (p.Met2294Arg) c.6878T>G (p.Met2293Arg) c.6833T>G (p.Met2278Arg) n.7498T>G | |
X | g.77520789A>G | CA413706907 | ATRX | c.7199T>C (p.Met2400Thr) c.2297T>C (p.Met766Thr) c.7085T>C (p.Met2362Thr) c.*6827T>C (n.*6827T>C) n.5519T>C n.430T>C c.7196T>C (p.Met2399Thr) c.7112T>C (p.Met2371Thr) c.7082T>C (p.Met2361Thr) c.7034T>C (p.Met2345Thr) c.6995T>C (p.Met2332Thr) c.6920T>C (p.Met2307Thr) n.8791T>C c.7109T>C (p.Met2370Thr) c.7079T>C (p.Met2360Thr) c.7031T>C (p.Met2344Thr) c.6998T>C (p.Met2333Thr) c.6968T>C (p.Met2323Thr) c.6965T>C (p.Met2322Thr) c.6917T>C (p.Met2306Thr) c.6881T>C (p.Met2294Thr) c.6878T>C (p.Met2293Thr) c.6833T>C (p.Met2278Thr) n.7498T>C | |
X | g.77520789A>T | CA413706905 | ATRX | c.7199T>A (p.Met2400Lys) c.2297T>A (p.Met766Lys) c.7085T>A (p.Met2362Lys) c.*6827T>A (n.*6827T>A) n.5519T>A n.430T>A c.7196T>A (p.Met2399Lys) c.7112T>A (p.Met2371Lys) c.7082T>A (p.Met2361Lys) c.7034T>A (p.Met2345Lys) c.6995T>A (p.Met2332Lys) c.6920T>A (p.Met2307Lys) n.8791T>A c.7109T>A (p.Met2370Lys) c.7079T>A (p.Met2360Lys) c.7031T>A (p.Met2344Lys) c.6998T>A (p.Met2333Lys) c.6968T>A (p.Met2323Lys) c.6965T>A (p.Met2322Lys) c.6917T>A (p.Met2306Lys) c.6881T>A (p.Met2294Lys) c.6878T>A (p.Met2293Lys) c.6833T>A (p.Met2278Lys) n.7498T>A | |
X | g.77520790T>A | CA413706909 | ATRX | c.7198A>T (p.Met2400Leu) c.2296A>T (p.Met766Leu) c.7084A>T (p.Met2362Leu) c.*6826A>T (n.*6826A>T) n.5518A>T n.429A>T c.7195A>T (p.Met2399Leu) c.7111A>T (p.Met2371Leu) c.7081A>T (p.Met2361Leu) c.7033A>T (p.Met2345Leu) c.6994A>T (p.Met2332Leu) c.6919A>T (p.Met2307Leu) n.8790A>T c.7108A>T (p.Met2370Leu) c.7078A>T (p.Met2360Leu) c.7030A>T (p.Met2344Leu) c.6997A>T (p.Met2333Leu) c.6967A>T (p.Met2323Leu) c.6964A>T (p.Met2322Leu) c.6916A>T (p.Met2306Leu) c.6880A>T (p.Met2294Leu) c.6877A>T (p.Met2293Leu) c.6832A>T (p.Met2278Leu) n.7497A>T | |
X | g.77520790T>C | CA413706911 | ATRX | c.7198A>G (p.Met2400Val) c.2296A>G (p.Met766Val) c.7084A>G (p.Met2362Val) c.*6826A>G (n.*6826A>G) n.5518A>G n.429A>G c.7195A>G (p.Met2399Val) c.7111A>G (p.Met2371Val) c.7081A>G (p.Met2361Val) c.7033A>G (p.Met2345Val) c.6994A>G (p.Met2332Val) c.6919A>G (p.Met2307Val) n.8790A>G c.7108A>G (p.Met2370Val) c.7078A>G (p.Met2360Val) c.7030A>G (p.Met2344Val) c.6997A>G (p.Met2333Val) c.6967A>G (p.Met2323Val) c.6964A>G (p.Met2322Val) c.6916A>G (p.Met2306Val) c.6880A>G (p.Met2294Val) c.6877A>G (p.Met2293Val) c.6832A>G (p.Met2278Val) n.7497A>G | |
X | g.77520790T>G | CA413706917 | ATRX | c.7198A>C (p.Met2400Leu) c.2296A>C (p.Met766Leu) c.7084A>C (p.Met2362Leu) c.*6826A>C (n.*6826A>C) n.5518A>C n.429A>C c.7195A>C (p.Met2399Leu) c.7111A>C (p.Met2371Leu) c.7081A>C (p.Met2361Leu) c.7033A>C (p.Met2345Leu) c.6994A>C (p.Met2332Leu) c.6919A>C (p.Met2307Leu) n.8790A>C c.7108A>C (p.Met2370Leu) c.7078A>C (p.Met2360Leu) c.7030A>C (p.Met2344Leu) c.6997A>C (p.Met2333Leu) c.6967A>C (p.Met2323Leu) c.6964A>C (p.Met2322Leu) c.6916A>C (p.Met2306Leu) c.6880A>C (p.Met2294Leu) c.6877A>C (p.Met2293Leu) c.6832A>C (p.Met2278Leu) n.7497A>C | |
X | g.77520791C>A | CA413706918 | ATRX | c.7197G>T (p.Gln2399His) c.2295G>T (p.Gln765His) c.7083G>T (p.Gln2361His) c.*6825G>T (n.*6825G>T) n.5517G>T n.428G>T c.7194G>T (p.Gln2398His) c.7110G>T (p.Gln2370His) c.7080G>T (p.Gln2360His) c.7032G>T (p.Gln2344His) c.6993G>T (p.Gln2331His) c.6918G>T (p.Gln2306His) n.8789G>T c.7107G>T (p.Gln2369His) c.7077G>T (p.Gln2359His) c.7029G>T (p.Gln2343His) c.6996G>T (p.Gln2332His) c.6966G>T (p.Gln2322His) c.6963G>T (p.Gln2321His) c.6915G>T (p.Gln2305His) c.6879G>T (p.Gln2293His) c.6876G>T (p.Gln2292His) c.6831G>T (p.Gln2277His) n.7496G>T | |
X | g.77520791C>G | CA413706919 | ATRX | c.7197G>C (p.Gln2399His) c.2295G>C (p.Gln765His) c.7083G>C (p.Gln2361His) c.*6825G>C (n.*6825G>C) n.5517G>C n.428G>C c.7194G>C (p.Gln2398His) c.7110G>C (p.Gln2370His) c.7080G>C (p.Gln2360His) c.7032G>C (p.Gln2344His) c.6993G>C (p.Gln2331His) c.6918G>C (p.Gln2306His) n.8789G>C c.7107G>C (p.Gln2369His) c.7077G>C (p.Gln2359His) c.7029G>C (p.Gln2343His) c.6996G>C (p.Gln2332His) c.6966G>C (p.Gln2322His) c.6963G>C (p.Gln2321His) c.6915G>C (p.Gln2305His) c.6879G>C (p.Gln2293His) c.6876G>C (p.Gln2292His) c.6831G>C (p.Gln2277His) n.7496G>C | |
X | g.77520791C>T | CA517374362 | ATRX | c.7197G>A (p.Gln2399=) c.2295G>A (p.Gln765=) c.7083G>A (p.Gln2361=) c.*6825G>A (n.*6825G>A) n.5517G>A n.428G>A c.7194G>A (p.Gln2398=) c.7110G>A (p.Gln2370=) c.7080G>A (p.Gln2360=) c.7032G>A (p.Gln2344=) c.6993G>A (p.Gln2331=) c.6918G>A (p.Gln2306=) n.8789G>A c.7107G>A (p.Gln2369=) c.7077G>A (p.Gln2359=) c.7029G>A (p.Gln2343=) c.6996G>A (p.Gln2332=) c.6966G>A (p.Gln2322=) c.6963G>A (p.Gln2321=) c.6915G>A (p.Gln2305=) c.6879G>A (p.Gln2293=) c.6876G>A (p.Gln2292=) c.6831G>A (p.Gln2277=) n.7496G>A | dbSNP |
X | g.77520792T>A | CA413706921 | ATRX | c.7196A>T (p.Gln2399Leu) c.2294A>T (p.Gln765Leu) c.7082A>T (p.Gln2361Leu) c.*6824A>T (n.*6824A>T) n.5516A>T n.427A>T c.7193A>T (p.Gln2398Leu) c.7109A>T (p.Gln2370Leu) c.7079A>T (p.Gln2360Leu) c.7031A>T (p.Gln2344Leu) c.6992A>T (p.Gln2331Leu) c.6917A>T (p.Gln2306Leu) n.8788A>T c.7106A>T (p.Gln2369Leu) c.7076A>T (p.Gln2359Leu) c.7028A>T (p.Gln2343Leu) c.6995A>T (p.Gln2332Leu) c.6965A>T (p.Gln2322Leu) c.6962A>T (p.Gln2321Leu) c.6914A>T (p.Gln2305Leu) c.6878A>T (p.Gln2293Leu) c.6875A>T (p.Gln2292Leu) c.6830A>T (p.Gln2277Leu) n.7495A>T | |
X | g.77520792T>C | CA413706924 | ATRX | c.7196A>G (p.Gln2399Arg) c.2294A>G (p.Gln765Arg) c.7082A>G (p.Gln2361Arg) c.*6824A>G (n.*6824A>G) n.5516A>G n.427A>G c.7193A>G (p.Gln2398Arg) c.7109A>G (p.Gln2370Arg) c.7079A>G (p.Gln2360Arg) c.7031A>G (p.Gln2344Arg) c.6992A>G (p.Gln2331Arg) c.6917A>G (p.Gln2306Arg) n.8788A>G c.7106A>G (p.Gln2369Arg) c.7076A>G (p.Gln2359Arg) c.7028A>G (p.Gln2343Arg) c.6995A>G (p.Gln2332Arg) c.6965A>G (p.Gln2322Arg) c.6962A>G (p.Gln2321Arg) c.6914A>G (p.Gln2305Arg) c.6878A>G (p.Gln2293Arg) c.6875A>G (p.Gln2292Arg) c.6830A>G (p.Gln2277Arg) n.7495A>G | |
X | g.77520792T>G | CA413706925 | ATRX | c.7196A>C (p.Gln2399Pro) c.2294A>C (p.Gln765Pro) c.7082A>C (p.Gln2361Pro) c.*6824A>C (n.*6824A>C) n.5516A>C n.427A>C c.7193A>C (p.Gln2398Pro) c.7109A>C (p.Gln2370Pro) c.7079A>C (p.Gln2360Pro) c.7031A>C (p.Gln2344Pro) c.6992A>C (p.Gln2331Pro) c.6917A>C (p.Gln2306Pro) n.8788A>C c.7106A>C (p.Gln2369Pro) c.7076A>C (p.Gln2359Pro) c.7028A>C (p.Gln2343Pro) c.6995A>C (p.Gln2332Pro) c.6965A>C (p.Gln2322Pro) c.6962A>C (p.Gln2321Pro) c.6914A>C (p.Gln2305Pro) c.6878A>C (p.Gln2293Pro) c.6875A>C (p.Gln2292Pro) c.6830A>C (p.Gln2277Pro) n.7495A>C | |
X | g.77520793G>A | CA413706928 | ATRX | c.7195C>T (p.Gln2399Ter) c.2293C>T (p.Gln765Ter) c.7081C>T (p.Gln2361Ter) c.*6823C>T (n.*6823C>T) n.5515C>T n.426C>T c.7192C>T (p.Gln2398Ter) c.7108C>T (p.Gln2370Ter) c.7078C>T (p.Gln2360Ter) c.7030C>T (p.Gln2344Ter) c.6991C>T (p.Gln2331Ter) c.6916C>T (p.Gln2306Ter) n.8787C>T c.7105C>T (p.Gln2369Ter) c.7075C>T (p.Gln2359Ter) c.7027C>T (p.Gln2343Ter) c.6994C>T (p.Gln2332Ter) c.6964C>T (p.Gln2322Ter) c.6961C>T (p.Gln2321Ter) c.6913C>T (p.Gln2305Ter) c.6877C>T (p.Gln2293Ter) c.6874C>T (p.Gln2292Ter) c.6829C>T (p.Gln2277Ter) n.7494C>T | |
X | g.77520793G>C | CA413706929 | ATRX | c.7195C>G (p.Gln2399Glu) c.2293C>G (p.Gln765Glu) c.7081C>G (p.Gln2361Glu) c.*6823C>G (n.*6823C>G) n.5515C>G n.426C>G c.7192C>G (p.Gln2398Glu) c.7108C>G (p.Gln2370Glu) c.7078C>G (p.Gln2360Glu) c.7030C>G (p.Gln2344Glu) c.6991C>G (p.Gln2331Glu) c.6916C>G (p.Gln2306Glu) n.8787C>G c.7105C>G (p.Gln2369Glu) c.7075C>G (p.Gln2359Glu) c.7027C>G (p.Gln2343Glu) c.6994C>G (p.Gln2332Glu) c.6964C>G (p.Gln2322Glu) c.6961C>G (p.Gln2321Glu) c.6913C>G (p.Gln2305Glu) c.6877C>G (p.Gln2293Glu) c.6874C>G (p.Gln2292Glu) c.6829C>G (p.Gln2277Glu) n.7494C>G | |
X | g.77520793G>T | CA413706931 | ATRX | c.7195C>A (p.Gln2399Lys) c.2293C>A (p.Gln765Lys) c.7081C>A (p.Gln2361Lys) c.*6823C>A (n.*6823C>A) n.5515C>A n.426C>A c.7192C>A (p.Gln2398Lys) c.7108C>A (p.Gln2370Lys) c.7078C>A (p.Gln2360Lys) c.7030C>A (p.Gln2344Lys) c.6991C>A (p.Gln2331Lys) c.6916C>A (p.Gln2306Lys) n.8787C>A c.7105C>A (p.Gln2369Lys) c.7075C>A (p.Gln2359Lys) c.7027C>A (p.Gln2343Lys) c.6994C>A (p.Gln2332Lys) c.6964C>A (p.Gln2322Lys) c.6961C>A (p.Gln2321Lys) c.6913C>A (p.Gln2305Lys) c.6877C>A (p.Gln2293Lys) c.6874C>A (p.Gln2292Lys) c.6829C>A (p.Gln2277Lys) n.7494C>A | |
X | g.77520794T>A | CA413706937 | ATRX | c.7194A>T (p.Gln2398His) c.2292A>T (p.Gln764His) c.7080A>T (p.Gln2360His) c.*6822A>T (n.*6822A>T) n.5514A>T n.425A>T c.7191A>T (p.Gln2397His) c.7107A>T (p.Gln2369His) c.7077A>T (p.Gln2359His) c.7029A>T (p.Gln2343His) c.6990A>T (p.Gln2330His) c.6915A>T (p.Gln2305His) n.8786A>T c.7104A>T (p.Gln2368His) c.7074A>T (p.Gln2358His) c.7026A>T (p.Gln2342His) c.6993A>T (p.Gln2331His) c.6963A>T (p.Gln2321His) c.6960A>T (p.Gln2320His) c.6912A>T (p.Gln2304His) c.6876A>T (p.Gln2292His) c.6873A>T (p.Gln2291His) c.6828A>T (p.Gln2276His) n.7493A>T | |
X | g.77520794T>C | CA517374363 | ATRX | c.7194A>G (p.Gln2398=) c.2292A>G (p.Gln764=) c.7080A>G (p.Gln2360=) c.*6822A>G (n.*6822A>G) n.5514A>G n.425A>G c.7191A>G (p.Gln2397=) c.7107A>G (p.Gln2369=) c.7077A>G (p.Gln2359=) c.7029A>G (p.Gln2343=) c.6990A>G (p.Gln2330=) c.6915A>G (p.Gln2305=) n.8786A>G c.7104A>G (p.Gln2368=) c.7074A>G (p.Gln2358=) c.7026A>G (p.Gln2342=) c.6993A>G (p.Gln2331=) c.6963A>G (p.Gln2321=) c.6960A>G (p.Gln2320=) c.6912A>G (p.Gln2304=) c.6876A>G (p.Gln2292=) c.6873A>G (p.Gln2291=) c.6828A>G (p.Gln2276=) n.7493A>G | |
X | g.77520794T>G | CA413706938 | ATRX | c.7194A>C (p.Gln2398His) c.2292A>C (p.Gln764His) c.7080A>C (p.Gln2360His) c.*6822A>C (n.*6822A>C) n.5514A>C n.425A>C c.7191A>C (p.Gln2397His) c.7107A>C (p.Gln2369His) c.7077A>C (p.Gln2359His) c.7029A>C (p.Gln2343His) c.6990A>C (p.Gln2330His) c.6915A>C (p.Gln2305His) n.8786A>C c.7104A>C (p.Gln2368His) c.7074A>C (p.Gln2358His) c.7026A>C (p.Gln2342His) c.6993A>C (p.Gln2331His) c.6963A>C (p.Gln2321His) c.6960A>C (p.Gln2320His) c.6912A>C (p.Gln2304His) c.6876A>C (p.Gln2292His) c.6873A>C (p.Gln2291His) c.6828A>C (p.Gln2276His) n.7493A>C | |
X | g.77520795T>A | CA413706941 | ATRX | c.7193A>T (p.Gln2398Leu) c.2291A>T (p.Gln764Leu) c.7079A>T (p.Gln2360Leu) c.*6821A>T (n.*6821A>T) n.5513A>T n.424A>T c.7190A>T (p.Gln2397Leu) c.7106A>T (p.Gln2369Leu) c.7076A>T (p.Gln2359Leu) c.7028A>T (p.Gln2343Leu) c.6989A>T (p.Gln2330Leu) c.6914A>T (p.Gln2305Leu) n.8785A>T c.7103A>T (p.Gln2368Leu) c.7073A>T (p.Gln2358Leu) c.7025A>T (p.Gln2342Leu) c.6992A>T (p.Gln2331Leu) c.6962A>T (p.Gln2321Leu) c.6959A>T (p.Gln2320Leu) c.6911A>T (p.Gln2304Leu) c.6875A>T (p.Gln2292Leu) c.6872A>T (p.Gln2291Leu) c.6827A>T (p.Gln2276Leu) n.7492A>T | |
X | g.77520795T>C | CA413706944 | ATRX | c.7193A>G (p.Gln2398Arg) c.2291A>G (p.Gln764Arg) c.7079A>G (p.Gln2360Arg) c.*6821A>G (n.*6821A>G) n.5513A>G n.424A>G c.7190A>G (p.Gln2397Arg) c.7106A>G (p.Gln2369Arg) c.7076A>G (p.Gln2359Arg) c.7028A>G (p.Gln2343Arg) c.6989A>G (p.Gln2330Arg) c.6914A>G (p.Gln2305Arg) n.8785A>G c.7103A>G (p.Gln2368Arg) c.7073A>G (p.Gln2358Arg) c.7025A>G (p.Gln2342Arg) c.6992A>G (p.Gln2331Arg) c.6962A>G (p.Gln2321Arg) c.6959A>G (p.Gln2320Arg) c.6911A>G (p.Gln2304Arg) c.6875A>G (p.Gln2292Arg) c.6872A>G (p.Gln2291Arg) c.6827A>G (p.Gln2276Arg) n.7492A>G | |
X | g.77520795T>G | CA413706942 | ATRX | c.7193A>C (p.Gln2398Pro) c.2291A>C (p.Gln764Pro) c.7079A>C (p.Gln2360Pro) c.*6821A>C (n.*6821A>C) n.5513A>C n.424A>C c.7190A>C (p.Gln2397Pro) c.7106A>C (p.Gln2369Pro) c.7076A>C (p.Gln2359Pro) c.7028A>C (p.Gln2343Pro) c.6989A>C (p.Gln2330Pro) c.6914A>C (p.Gln2305Pro) n.8785A>C c.7103A>C (p.Gln2368Pro) c.7073A>C (p.Gln2358Pro) c.7025A>C (p.Gln2342Pro) c.6992A>C (p.Gln2331Pro) c.6962A>C (p.Gln2321Pro) c.6959A>C (p.Gln2320Pro) c.6911A>C (p.Gln2304Pro) c.6875A>C (p.Gln2292Pro) c.6872A>C (p.Gln2291Pro) c.6827A>C (p.Gln2276Pro) n.7492A>C | |
X | g.77520796G>A | CA413706947 | ATRX | c.7192C>T (p.Gln2398Ter) c.2290C>T (p.Gln764Ter) c.7078C>T (p.Gln2360Ter) c.*6820C>T (n.*6820C>T) n.5512C>T n.423C>T c.7189C>T (p.Gln2397Ter) c.7105C>T (p.Gln2369Ter) c.7075C>T (p.Gln2359Ter) c.7027C>T (p.Gln2343Ter) c.6988C>T (p.Gln2330Ter) c.6913C>T (p.Gln2305Ter) n.8784C>T c.7102C>T (p.Gln2368Ter) c.7072C>T (p.Gln2358Ter) c.7024C>T (p.Gln2342Ter) c.6991C>T (p.Gln2331Ter) c.6961C>T (p.Gln2321Ter) c.6958C>T (p.Gln2320Ter) c.6910C>T (p.Gln2304Ter) c.6874C>T (p.Gln2292Ter) c.6871C>T (p.Gln2291Ter) c.6826C>T (p.Gln2276Ter) n.7491C>T | ClinVar dbSNP |
X | g.77520796G>C | CA413706948 | ATRX | c.7192C>G (p.Gln2398Glu) c.2290C>G (p.Gln764Glu) c.7078C>G (p.Gln2360Glu) c.*6820C>G (n.*6820C>G) n.5512C>G n.423C>G c.7189C>G (p.Gln2397Glu) c.7105C>G (p.Gln2369Glu) c.7075C>G (p.Gln2359Glu) c.7027C>G (p.Gln2343Glu) c.6988C>G (p.Gln2330Glu) c.6913C>G (p.Gln2305Glu) n.8784C>G c.7102C>G (p.Gln2368Glu) c.7072C>G (p.Gln2358Glu) c.7024C>G (p.Gln2342Glu) c.6991C>G (p.Gln2331Glu) c.6961C>G (p.Gln2321Glu) c.6958C>G (p.Gln2320Glu) c.6910C>G (p.Gln2304Glu) c.6874C>G (p.Gln2292Glu) c.6871C>G (p.Gln2291Glu) c.6826C>G (p.Gln2276Glu) n.7491C>G | |
X | g.77520796G= | CA2438933053 | ATRX | c.7192C= (p.Gln2398=) c.2290C= (p.Gln764=) c.7078C= (p.Gln2360=) c.*6820C= (n.*6820C=) n.5512C= n.423C= c.7189C= (p.Gln2397=) c.7105C= (p.Gln2369=) c.7075C= (p.Gln2359=) c.7027C= (p.Gln2343=) c.6988C= (p.Gln2330=) c.6913C= (p.Gln2305=) n.8784C= c.7102C= (p.Gln2368=) c.7072C= (p.Gln2358=) c.7024C= (p.Gln2342=) c.6991C= (p.Gln2331=) c.6961C= (p.Gln2321=) c.6958C= (p.Gln2320=) c.6910C= (p.Gln2304=) c.6874C= (p.Gln2292=) c.6871C= (p.Gln2291=) c.6826C= (p.Gln2276=) n.7491C= | |
X | g.77520796G>T | CA413706950 | ATRX | c.7192C>A (p.Gln2398Lys) c.2290C>A (p.Gln764Lys) c.7078C>A (p.Gln2360Lys) c.*6820C>A (n.*6820C>A) n.5512C>A n.423C>A c.7189C>A (p.Gln2397Lys) c.7105C>A (p.Gln2369Lys) c.7075C>A (p.Gln2359Lys) c.7027C>A (p.Gln2343Lys) c.6988C>A (p.Gln2330Lys) c.6913C>A (p.Gln2305Lys) n.8784C>A c.7102C>A (p.Gln2368Lys) c.7072C>A (p.Gln2358Lys) c.7024C>A (p.Gln2342Lys) c.6991C>A (p.Gln2331Lys) c.6961C>A (p.Gln2321Lys) c.6958C>A (p.Gln2320Lys) c.6910C>A (p.Gln2304Lys) c.6874C>A (p.Gln2292Lys) c.6871C>A (p.Gln2291Lys) c.6826C>A (p.Gln2276Lys) n.7491C>A | |
X | g.77520797T>A | CA413706953 | ATRX | c.7191A>T (p.Lys2397Asn) c.2289A>T (p.Lys763Asn) c.7077A>T (p.Lys2359Asn) c.*6819A>T (n.*6819A>T) n.5511A>T n.422A>T c.7188A>T (p.Lys2396Asn) c.7104A>T (p.Lys2368Asn) c.7074A>T (p.Lys2358Asn) c.7026A>T (p.Lys2342Asn) c.6987A>T (p.Lys2329Asn) c.6912A>T (p.Lys2304Asn) n.8783A>T c.7101A>T (p.Lys2367Asn) c.7071A>T (p.Lys2357Asn) c.7023A>T (p.Lys2341Asn) c.6990A>T (p.Lys2330Asn) c.6960A>T (p.Lys2320Asn) c.6957A>T (p.Lys2319Asn) c.6909A>T (p.Lys2303Asn) c.6873A>T (p.Lys2291Asn) c.6870A>T (p.Lys2290Asn) c.6825A>T (p.Lys2275Asn) n.7490A>T | |
X | g.77520797T>C | CA517374364 | ATRX | c.7191A>G (p.Lys2397=) c.2289A>G (p.Lys763=) c.7077A>G (p.Lys2359=) c.*6819A>G (n.*6819A>G) n.5511A>G n.422A>G c.7188A>G (p.Lys2396=) c.7104A>G (p.Lys2368=) c.7074A>G (p.Lys2358=) c.7026A>G (p.Lys2342=) c.6987A>G (p.Lys2329=) c.6912A>G (p.Lys2304=) n.8783A>G c.7101A>G (p.Lys2367=) c.7071A>G (p.Lys2357=) c.7023A>G (p.Lys2341=) c.6990A>G (p.Lys2330=) c.6960A>G (p.Lys2320=) c.6957A>G (p.Lys2319=) c.6909A>G (p.Lys2303=) c.6873A>G (p.Lys2291=) c.6870A>G (p.Lys2290=) c.6825A>G (p.Lys2275=) n.7490A>G | ClinVar |
X | g.77520797T>G | CA413706954 | ATRX | c.7191A>C (p.Lys2397Asn) c.2289A>C (p.Lys763Asn) c.7077A>C (p.Lys2359Asn) c.*6819A>C (n.*6819A>C) n.5511A>C n.422A>C c.7188A>C (p.Lys2396Asn) c.7104A>C (p.Lys2368Asn) c.7074A>C (p.Lys2358Asn) c.7026A>C (p.Lys2342Asn) c.6987A>C (p.Lys2329Asn) c.6912A>C (p.Lys2304Asn) n.8783A>C c.7101A>C (p.Lys2367Asn) c.7071A>C (p.Lys2357Asn) c.7023A>C (p.Lys2341Asn) c.6990A>C (p.Lys2330Asn) c.6960A>C (p.Lys2320Asn) c.6957A>C (p.Lys2319Asn) c.6909A>C (p.Lys2303Asn) c.6873A>C (p.Lys2291Asn) c.6870A>C (p.Lys2290Asn) c.6825A>C (p.Lys2275Asn) n.7490A>C | |
X | g.77520798T>A | CA413706959 | ATRX | c.7190A>T (p.Lys2397Ile) c.2288A>T (p.Lys763Ile) c.7076A>T (p.Lys2359Ile) c.*6818A>T (n.*6818A>T) n.5510A>T n.421A>T c.7187A>T (p.Lys2396Ile) c.7103A>T (p.Lys2368Ile) c.7073A>T (p.Lys2358Ile) c.7025A>T (p.Lys2342Ile) c.6986A>T (p.Lys2329Ile) c.6911A>T (p.Lys2304Ile) n.8782A>T c.7100A>T (p.Lys2367Ile) c.7070A>T (p.Lys2357Ile) c.7022A>T (p.Lys2341Ile) c.6989A>T (p.Lys2330Ile) c.6959A>T (p.Lys2320Ile) c.6956A>T (p.Lys2319Ile) c.6908A>T (p.Lys2303Ile) c.6872A>T (p.Lys2291Ile) c.6869A>T (p.Lys2290Ile) c.6824A>T (p.Lys2275Ile) n.7489A>T | |
X | g.77520798T>C | CA413706961 | ATRX | c.7190A>G (p.Lys2397Arg) c.2288A>G (p.Lys763Arg) c.7076A>G (p.Lys2359Arg) c.*6818A>G (n.*6818A>G) n.5510A>G n.421A>G c.7187A>G (p.Lys2396Arg) c.7103A>G (p.Lys2368Arg) c.7073A>G (p.Lys2358Arg) c.7025A>G (p.Lys2342Arg) c.6986A>G (p.Lys2329Arg) c.6911A>G (p.Lys2304Arg) n.8782A>G c.7100A>G (p.Lys2367Arg) c.7070A>G (p.Lys2357Arg) c.7022A>G (p.Lys2341Arg) c.6989A>G (p.Lys2330Arg) c.6959A>G (p.Lys2320Arg) c.6956A>G (p.Lys2319Arg) c.6908A>G (p.Lys2303Arg) c.6872A>G (p.Lys2291Arg) c.6869A>G (p.Lys2290Arg) c.6824A>G (p.Lys2275Arg) n.7489A>G | |
X | g.77520798T>G | CA413706964 | ATRX | c.7190A>C (p.Lys2397Thr) c.2288A>C (p.Lys763Thr) c.7076A>C (p.Lys2359Thr) c.*6818A>C (n.*6818A>C) n.5510A>C n.421A>C c.7187A>C (p.Lys2396Thr) c.7103A>C (p.Lys2368Thr) c.7073A>C (p.Lys2358Thr) c.7025A>C (p.Lys2342Thr) c.6986A>C (p.Lys2329Thr) c.6911A>C (p.Lys2304Thr) n.8782A>C c.7100A>C (p.Lys2367Thr) c.7070A>C (p.Lys2357Thr) c.7022A>C (p.Lys2341Thr) c.6989A>C (p.Lys2330Thr) c.6959A>C (p.Lys2320Thr) c.6956A>C (p.Lys2319Thr) c.6908A>C (p.Lys2303Thr) c.6872A>C (p.Lys2291Thr) c.6869A>C (p.Lys2290Thr) c.6824A>C (p.Lys2275Thr) n.7489A>C | |
X | g.77520799T>A | CA413706966 | ATRX | c.7189A>T (p.Lys2397Ter) c.2287A>T (p.Lys763Ter) c.7075A>T (p.Lys2359Ter) c.*6817A>T (n.*6817A>T) n.5509A>T n.420A>T c.7186A>T (p.Lys2396Ter) c.7102A>T (p.Lys2368Ter) c.7072A>T (p.Lys2358Ter) c.7024A>T (p.Lys2342Ter) c.6985A>T (p.Lys2329Ter) c.6910A>T (p.Lys2304Ter) n.8781A>T c.7099A>T (p.Lys2367Ter) c.7069A>T (p.Lys2357Ter) c.7021A>T (p.Lys2341Ter) c.6988A>T (p.Lys2330Ter) c.6958A>T (p.Lys2320Ter) c.6955A>T (p.Lys2319Ter) c.6907A>T (p.Lys2303Ter) c.6871A>T (p.Lys2291Ter) c.6868A>T (p.Lys2290Ter) c.6823A>T (p.Lys2275Ter) n.7488A>T | |
X | g.77520799T>C | CA413706968 | ATRX | c.7189A>G (p.Lys2397Glu) c.2287A>G (p.Lys763Glu) c.7075A>G (p.Lys2359Glu) c.*6817A>G (n.*6817A>G) n.5509A>G n.420A>G c.7186A>G (p.Lys2396Glu) c.7102A>G (p.Lys2368Glu) c.7072A>G (p.Lys2358Glu) c.7024A>G (p.Lys2342Glu) c.6985A>G (p.Lys2329Glu) c.6910A>G (p.Lys2304Glu) n.8781A>G c.7099A>G (p.Lys2367Glu) c.7069A>G (p.Lys2357Glu) c.7021A>G (p.Lys2341Glu) c.6988A>G (p.Lys2330Glu) c.6958A>G (p.Lys2320Glu) c.6955A>G (p.Lys2319Glu) c.6907A>G (p.Lys2303Glu) c.6871A>G (p.Lys2291Glu) c.6868A>G (p.Lys2290Glu) c.6823A>G (p.Lys2275Glu) n.7488A>G | |
X | g.77520799T>G | CA413706970 | ATRX | c.7189A>C (p.Lys2397Gln) c.2287A>C (p.Lys763Gln) c.7075A>C (p.Lys2359Gln) c.*6817A>C (n.*6817A>C) n.5509A>C n.420A>C c.7186A>C (p.Lys2396Gln) c.7102A>C (p.Lys2368Gln) c.7072A>C (p.Lys2358Gln) c.7024A>C (p.Lys2342Gln) c.6985A>C (p.Lys2329Gln) c.6910A>C (p.Lys2304Gln) n.8781A>C c.7099A>C (p.Lys2367Gln) c.7069A>C (p.Lys2357Gln) c.7021A>C (p.Lys2341Gln) c.6988A>C (p.Lys2330Gln) c.6958A>C (p.Lys2320Gln) c.6955A>C (p.Lys2319Gln) c.6907A>C (p.Lys2303Gln) c.6871A>C (p.Lys2291Gln) c.6868A>C (p.Lys2290Gln) c.6823A>C (p.Lys2275Gln) n.7488A>C | |
X | g.77520800T>A | CA517374367 | ATRX | c.7188A>T (p.Thr2396=) c.2286A>T (p.Thr762=) c.7074A>T (p.Thr2358=) c.*6816A>T (n.*6816A>T) n.5508A>T n.419A>T c.7185A>T (p.Thr2395=) c.7101A>T (p.Thr2367=) c.7071A>T (p.Thr2357=) c.7023A>T (p.Thr2341=) c.6984A>T (p.Thr2328=) c.6909A>T (p.Thr2303=) n.8780A>T c.7098A>T (p.Thr2366=) c.7068A>T (p.Thr2356=) c.7020A>T (p.Thr2340=) c.6987A>T (p.Thr2329=) c.6957A>T (p.Thr2319=) c.6954A>T (p.Thr2318=) c.6906A>T (p.Thr2302=) c.6870A>T (p.Thr2290=) c.6867A>T (p.Thr2289=) c.6822A>T (p.Thr2274=) n.7487A>T | |
X | g.77520800T>C | CA517374368 | ATRX | c.7188A>G (p.Thr2396=) c.2286A>G (p.Thr762=) c.7074A>G (p.Thr2358=) c.*6816A>G (n.*6816A>G) n.5508A>G n.419A>G c.7185A>G (p.Thr2395=) c.7101A>G (p.Thr2367=) c.7071A>G (p.Thr2357=) c.7023A>G (p.Thr2341=) c.6984A>G (p.Thr2328=) c.6909A>G (p.Thr2303=) n.8780A>G c.7098A>G (p.Thr2366=) c.7068A>G (p.Thr2356=) c.7020A>G (p.Thr2340=) c.6987A>G (p.Thr2329=) c.6957A>G (p.Thr2319=) c.6954A>G (p.Thr2318=) c.6906A>G (p.Thr2302=) c.6870A>G (p.Thr2290=) c.6867A>G (p.Thr2289=) c.6822A>G (p.Thr2274=) n.7487A>G | ClinVar dbSNP |
X | g.77520800T>G | CA517374369 | ATRX | c.7188A>C (p.Thr2396=) c.2286A>C (p.Thr762=) c.7074A>C (p.Thr2358=) c.*6816A>C (n.*6816A>C) n.5508A>C n.419A>C c.7185A>C (p.Thr2395=) c.7101A>C (p.Thr2367=) c.7071A>C (p.Thr2357=) c.7023A>C (p.Thr2341=) c.6984A>C (p.Thr2328=) c.6909A>C (p.Thr2303=) n.8780A>C c.7098A>C (p.Thr2366=) c.7068A>C (p.Thr2356=) c.7020A>C (p.Thr2340=) c.6987A>C (p.Thr2329=) c.6957A>C (p.Thr2319=) c.6954A>C (p.Thr2318=) c.6906A>C (p.Thr2302=) c.6870A>C (p.Thr2290=) c.6867A>C (p.Thr2289=) c.6822A>C (p.Thr2274=) n.7487A>C | |
X | g.77520800T= | CA2438933054 | ATRX | c.7188A= (p.Thr2396=) c.2286A= (p.Thr762=) c.7074A= (p.Thr2358=) c.*6816A= (n.*6816A=) n.5508A= n.419A= c.7185A= (p.Thr2395=) c.7101A= (p.Thr2367=) c.7071A= (p.Thr2357=) c.7023A= (p.Thr2341=) c.6984A= (p.Thr2328=) c.6909A= (p.Thr2303=) n.8780A= c.7098A= (p.Thr2366=) c.7068A= (p.Thr2356=) c.7020A= (p.Thr2340=) c.6987A= (p.Thr2329=) c.6957A= (p.Thr2319=) c.6954A= (p.Thr2318=) c.6906A= (p.Thr2302=) c.6870A= (p.Thr2290=) c.6867A= (p.Thr2289=) c.6822A= (p.Thr2274=) n.7487A= | |
X | g.77520801G>A | CA413706978 | ATRX | c.7187C>T (p.Thr2396Ile) c.2285C>T (p.Thr762Ile) c.7073C>T (p.Thr2358Ile) c.*6815C>T (n.*6815C>T) n.5507C>T n.418C>T c.7184C>T (p.Thr2395Ile) c.7100C>T (p.Thr2367Ile) c.7070C>T (p.Thr2357Ile) c.7022C>T (p.Thr2341Ile) c.6983C>T (p.Thr2328Ile) c.6908C>T (p.Thr2303Ile) n.8779C>T c.7097C>T (p.Thr2366Ile) c.7067C>T (p.Thr2356Ile) c.7019C>T (p.Thr2340Ile) c.6986C>T (p.Thr2329Ile) c.6956C>T (p.Thr2319Ile) c.6953C>T (p.Thr2318Ile) c.6905C>T (p.Thr2302Ile) c.6869C>T (p.Thr2290Ile) c.6866C>T (p.Thr2289Ile) c.6821C>T (p.Thr2274Ile) n.7486C>T | |
X | g.77520801G>C | CA413706972 | ATRX | c.7187C>G (p.Thr2396Arg) c.2285C>G (p.Thr762Arg) c.7073C>G (p.Thr2358Arg) c.*6815C>G (n.*6815C>G) n.5507C>G n.418C>G c.7184C>G (p.Thr2395Arg) c.7100C>G (p.Thr2367Arg) c.7070C>G (p.Thr2357Arg) c.7022C>G (p.Thr2341Arg) c.6983C>G (p.Thr2328Arg) c.6908C>G (p.Thr2303Arg) n.8779C>G c.7097C>G (p.Thr2366Arg) c.7067C>G (p.Thr2356Arg) c.7019C>G (p.Thr2340Arg) c.6986C>G (p.Thr2329Arg) c.6956C>G (p.Thr2319Arg) c.6953C>G (p.Thr2318Arg) c.6905C>G (p.Thr2302Arg) c.6869C>G (p.Thr2290Arg) c.6866C>G (p.Thr2289Arg) c.6821C>G (p.Thr2274Arg) n.7486C>G | |
X | g.77520801G>T | CA413706976 | ATRX | c.7187C>A (p.Thr2396Lys) c.2285C>A (p.Thr762Lys) c.7073C>A (p.Thr2358Lys) c.*6815C>A (n.*6815C>A) n.5507C>A n.418C>A c.7184C>A (p.Thr2395Lys) c.7100C>A (p.Thr2367Lys) c.7070C>A (p.Thr2357Lys) c.7022C>A (p.Thr2341Lys) c.6983C>A (p.Thr2328Lys) c.6908C>A (p.Thr2303Lys) n.8779C>A c.7097C>A (p.Thr2366Lys) c.7067C>A (p.Thr2356Lys) c.7019C>A (p.Thr2340Lys) c.6986C>A (p.Thr2329Lys) c.6956C>A (p.Thr2319Lys) c.6953C>A (p.Thr2318Lys) c.6905C>A (p.Thr2302Lys) c.6869C>A (p.Thr2290Lys) c.6866C>A (p.Thr2289Lys) c.6821C>A (p.Thr2274Lys) n.7486C>A | |
X | g.77520802T>A | CA413706980 | ATRX | c.7186A>T (p.Thr2396Ser) c.2284A>T (p.Thr762Ser) c.7072A>T (p.Thr2358Ser) c.*6814A>T (n.*6814A>T) n.5506A>T n.417A>T c.7183A>T (p.Thr2395Ser) c.7099A>T (p.Thr2367Ser) c.7069A>T (p.Thr2357Ser) c.7021A>T (p.Thr2341Ser) c.6982A>T (p.Thr2328Ser) c.6907A>T (p.Thr2303Ser) n.8778A>T c.7096A>T (p.Thr2366Ser) c.7066A>T (p.Thr2356Ser) c.7018A>T (p.Thr2340Ser) c.6985A>T (p.Thr2329Ser) c.6955A>T (p.Thr2319Ser) c.6952A>T (p.Thr2318Ser) c.6904A>T (p.Thr2302Ser) c.6868A>T (p.Thr2290Ser) c.6865A>T (p.Thr2289Ser) c.6820A>T (p.Thr2274Ser) n.7485A>T | |
X | g.77520802T>C | CA413706982 | ATRX | c.7186A>G (p.Thr2396Ala) c.2284A>G (p.Thr762Ala) c.7072A>G (p.Thr2358Ala) c.*6814A>G (n.*6814A>G) n.5506A>G n.417A>G c.7183A>G (p.Thr2395Ala) c.7099A>G (p.Thr2367Ala) c.7069A>G (p.Thr2357Ala) c.7021A>G (p.Thr2341Ala) c.6982A>G (p.Thr2328Ala) c.6907A>G (p.Thr2303Ala) n.8778A>G c.7096A>G (p.Thr2366Ala) c.7066A>G (p.Thr2356Ala) c.7018A>G (p.Thr2340Ala) c.6985A>G (p.Thr2329Ala) c.6955A>G (p.Thr2319Ala) c.6952A>G (p.Thr2318Ala) c.6904A>G (p.Thr2302Ala) c.6868A>G (p.Thr2290Ala) c.6865A>G (p.Thr2289Ala) c.6820A>G (p.Thr2274Ala) n.7485A>G | |
X | g.77520802T>G | CA413706983 | ATRX | c.7186A>C (p.Thr2396Pro) c.2284A>C (p.Thr762Pro) c.7072A>C (p.Thr2358Pro) c.*6814A>C (n.*6814A>C) n.5506A>C n.417A>C c.7183A>C (p.Thr2395Pro) c.7099A>C (p.Thr2367Pro) c.7069A>C (p.Thr2357Pro) c.7021A>C (p.Thr2341Pro) c.6982A>C (p.Thr2328Pro) c.6907A>C (p.Thr2303Pro) n.8778A>C c.7096A>C (p.Thr2366Pro) c.7066A>C (p.Thr2356Pro) c.7018A>C (p.Thr2340Pro) c.6985A>C (p.Thr2329Pro) c.6955A>C (p.Thr2319Pro) c.6952A>C (p.Thr2318Pro) c.6904A>C (p.Thr2302Pro) c.6868A>C (p.Thr2290Pro) c.6865A>C (p.Thr2289Pro) c.6820A>C (p.Thr2274Pro) n.7485A>C | |
X | g.77520803C>A | CA413706984 | ATRX | c.7185G>T (p.Leu2395Phe) c.2283G>T (p.Leu761Phe) c.7071G>T (p.Leu2357Phe) c.*6813G>T (n.*6813G>T) n.5505G>T n.416G>T c.7182G>T (p.Leu2394Phe) c.7098G>T (p.Leu2366Phe) c.7068G>T (p.Leu2356Phe) c.7020G>T (p.Leu2340Phe) c.6981G>T (p.Leu2327Phe) c.6906G>T (p.Leu2302Phe) n.8777G>T c.7095G>T (p.Leu2365Phe) c.7065G>T (p.Leu2355Phe) c.7017G>T (p.Leu2339Phe) c.6984G>T (p.Leu2328Phe) c.6954G>T (p.Leu2318Phe) c.6951G>T (p.Leu2317Phe) c.6903G>T (p.Leu2301Phe) c.6867G>T (p.Leu2289Phe) c.6864G>T (p.Leu2288Phe) c.6819G>T (p.Leu2273Phe) n.7484G>T | |
X | g.77520803C>G | CA413706986 | ATRX | c.7185G>C (p.Leu2395Phe) c.2283G>C (p.Leu761Phe) c.7071G>C (p.Leu2357Phe) c.*6813G>C (n.*6813G>C) n.5505G>C n.416G>C c.7182G>C (p.Leu2394Phe) c.7098G>C (p.Leu2366Phe) c.7068G>C (p.Leu2356Phe) c.7020G>C (p.Leu2340Phe) c.6981G>C (p.Leu2327Phe) c.6906G>C (p.Leu2302Phe) n.8777G>C c.7095G>C (p.Leu2365Phe) c.7065G>C (p.Leu2355Phe) c.7017G>C (p.Leu2339Phe) c.6984G>C (p.Leu2328Phe) c.6954G>C (p.Leu2318Phe) c.6951G>C (p.Leu2317Phe) c.6903G>C (p.Leu2301Phe) c.6867G>C (p.Leu2289Phe) c.6864G>C (p.Leu2288Phe) c.6819G>C (p.Leu2273Phe) n.7484G>C | |
X | g.77520803C>T | CA517374370 | ATRX | c.7185G>A (p.Leu2395=) c.2283G>A (p.Leu761=) c.7071G>A (p.Leu2357=) c.*6813G>A (n.*6813G>A) n.5505G>A n.416G>A c.7182G>A (p.Leu2394=) c.7098G>A (p.Leu2366=) c.7068G>A (p.Leu2356=) c.7020G>A (p.Leu2340=) c.6981G>A (p.Leu2327=) c.6906G>A (p.Leu2302=) n.8777G>A c.7095G>A (p.Leu2365=) c.7065G>A (p.Leu2355=) c.7017G>A (p.Leu2339=) c.6984G>A (p.Leu2328=) c.6954G>A (p.Leu2318=) c.6951G>A (p.Leu2317=) c.6903G>A (p.Leu2301=) c.6867G>A (p.Leu2289=) c.6864G>A (p.Leu2288=) c.6819G>A (p.Leu2273=) n.7484G>A | |
X | g.77520804A>C | CA413706989 | ATRX | c.7184T>G (p.Leu2395Trp) c.2282T>G (p.Leu761Trp) c.7070T>G (p.Leu2357Trp) c.*6812T>G (n.*6812T>G) n.5504T>G n.415T>G c.7181T>G (p.Leu2394Trp) c.7097T>G (p.Leu2366Trp) c.7067T>G (p.Leu2356Trp) c.7019T>G (p.Leu2340Trp) c.6980T>G (p.Leu2327Trp) c.6905T>G (p.Leu2302Trp) n.8776T>G c.7094T>G (p.Leu2365Trp) c.7064T>G (p.Leu2355Trp) c.7016T>G (p.Leu2339Trp) c.6983T>G (p.Leu2328Trp) c.6953T>G (p.Leu2318Trp) c.6950T>G (p.Leu2317Trp) c.6902T>G (p.Leu2301Trp) c.6866T>G (p.Leu2289Trp) c.6863T>G (p.Leu2288Trp) c.6818T>G (p.Leu2273Trp) n.7483T>G | |
X | g.77520804A>G | CA413706990 | ATRX | c.7184T>C (p.Leu2395Ser) c.2282T>C (p.Leu761Ser) c.7070T>C (p.Leu2357Ser) c.*6812T>C (n.*6812T>C) n.5504T>C n.415T>C c.7181T>C (p.Leu2394Ser) c.7097T>C (p.Leu2366Ser) c.7067T>C (p.Leu2356Ser) c.7019T>C (p.Leu2340Ser) c.6980T>C (p.Leu2327Ser) c.6905T>C (p.Leu2302Ser) n.8776T>C c.7094T>C (p.Leu2365Ser) c.7064T>C (p.Leu2355Ser) c.7016T>C (p.Leu2339Ser) c.6983T>C (p.Leu2328Ser) c.6953T>C (p.Leu2318Ser) c.6950T>C (p.Leu2317Ser) c.6902T>C (p.Leu2301Ser) c.6866T>C (p.Leu2289Ser) c.6863T>C (p.Leu2288Ser) c.6818T>C (p.Leu2273Ser) n.7483T>C | |
X | g.77520804A>T | CA413706994 | ATRX | c.7184T>A (p.Leu2395Ter) c.2282T>A (p.Leu761Ter) c.7070T>A (p.Leu2357Ter) c.*6812T>A (n.*6812T>A) n.5504T>A n.415T>A c.7181T>A (p.Leu2394Ter) c.7097T>A (p.Leu2366Ter) c.7067T>A (p.Leu2356Ter) c.7019T>A (p.Leu2340Ter) c.6980T>A (p.Leu2327Ter) c.6905T>A (p.Leu2302Ter) n.8776T>A c.7094T>A (p.Leu2365Ter) c.7064T>A (p.Leu2355Ter) c.7016T>A (p.Leu2339Ter) c.6983T>A (p.Leu2328Ter) c.6953T>A (p.Leu2318Ter) c.6950T>A (p.Leu2317Ter) c.6902T>A (p.Leu2301Ter) c.6866T>A (p.Leu2289Ter) c.6863T>A (p.Leu2288Ter) c.6818T>A (p.Leu2273Ter) n.7483T>A | |
X | g.77520805A= | CA2438933055 | ATRX | c.7183T= (p.Leu2395=) c.2281T= (p.Leu761=) c.7069T= (p.Leu2357=) c.*6811T= (n.*6811T=) n.5503T= n.414T= c.7180T= (p.Leu2394=) c.7096T= (p.Leu2366=) c.7066T= (p.Leu2356=) c.7018T= (p.Leu2340=) c.6979T= (p.Leu2327=) c.6904T= (p.Leu2302=) n.8775T= c.7093T= (p.Leu2365=) c.7063T= (p.Leu2355=) c.7015T= (p.Leu2339=) c.6982T= (p.Leu2328=) c.6952T= (p.Leu2318=) c.6949T= (p.Leu2317=) c.6901T= (p.Leu2301=) c.6865T= (p.Leu2289=) c.6862T= (p.Leu2288=) c.6817T= (p.Leu2273=) n.7482T= | |
X | g.77520805A>C | CA413706996 | ATRX | c.7183T>G (p.Leu2395Val) c.2281T>G (p.Leu761Val) c.7069T>G (p.Leu2357Val) c.*6811T>G (n.*6811T>G) n.5503T>G n.414T>G c.7180T>G (p.Leu2394Val) c.7096T>G (p.Leu2366Val) c.7066T>G (p.Leu2356Val) c.7018T>G (p.Leu2340Val) c.6979T>G (p.Leu2327Val) c.6904T>G (p.Leu2302Val) n.8775T>G c.7093T>G (p.Leu2365Val) c.7063T>G (p.Leu2355Val) c.7015T>G (p.Leu2339Val) c.6982T>G (p.Leu2328Val) c.6952T>G (p.Leu2318Val) c.6949T>G (p.Leu2317Val) c.6901T>G (p.Leu2301Val) c.6865T>G (p.Leu2289Val) c.6862T>G (p.Leu2288Val) c.6817T>G (p.Leu2273Val) n.7482T>G | |
X | g.77520805A>G | CA10457420 | ATRX | c.7183T>C (p.Leu2395=) c.2281T>C (p.Leu761=) c.7069T>C (p.Leu2357=) c.*6811T>C (n.*6811T>C) n.5503T>C n.414T>C c.7180T>C (p.Leu2394=) c.7096T>C (p.Leu2366=) c.7066T>C (p.Leu2356=) c.7018T>C (p.Leu2340=) c.6979T>C (p.Leu2327=) c.6904T>C (p.Leu2302=) n.8775T>C c.7093T>C (p.Leu2365=) c.7063T>C (p.Leu2355=) c.7015T>C (p.Leu2339=) c.6982T>C (p.Leu2328=) c.6952T>C (p.Leu2318=) c.6949T>C (p.Leu2317=) c.6901T>C (p.Leu2301=) c.6865T>C (p.Leu2289=) c.6862T>C (p.Leu2288=) c.6817T>C (p.Leu2273=) n.7482T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.77520805A>T | CA413706999 | ATRX | c.7183T>A (p.Leu2395Met) c.2281T>A (p.Leu761Met) c.7069T>A (p.Leu2357Met) c.*6811T>A (n.*6811T>A) n.5503T>A n.414T>A c.7180T>A (p.Leu2394Met) c.7096T>A (p.Leu2366Met) c.7066T>A (p.Leu2356Met) c.7018T>A (p.Leu2340Met) c.6979T>A (p.Leu2327Met) c.6904T>A (p.Leu2302Met) n.8775T>A c.7093T>A (p.Leu2365Met) c.7063T>A (p.Leu2355Met) c.7015T>A (p.Leu2339Met) c.6982T>A (p.Leu2328Met) c.6952T>A (p.Leu2318Met) c.6949T>A (p.Leu2317Met) c.6901T>A (p.Leu2301Met) c.6865T>A (p.Leu2289Met) c.6862T>A (p.Leu2288Met) c.6817T>A (p.Leu2273Met) n.7482T>A | |
X | g.77520805_77520806insAAGGACGGTCGAAAGCAGA | CA2541903707 | ATRX | c.7183_7184insCTGCTTTCGACCGTCCTTT (p.Leu2395SerfsTer?) c.2281_2282insCTGCTTTCGACCGTCCTTT (p.Leu761SerfsTer?) c.7069_7070insCTGCTTTCGACCGTCCTTT (p.Leu2357SerfsTer?) c.*6811_*6812insCTGCTTTCGACCGTCCTTT (n.*6811_*6812insCTGCTTTCGACCGTCCTTT) n.5503_5504insCTGCTTTCGACCGTCCTTT n.414_415insCTGCTTTCGACCGTCCTTT c.7180_7181insCTGCTTTCGACCGTCCTTT (p.Leu2394SerfsTer?) c.7096_7097insCTGCTTTCGACCGTCCTTT (p.Leu2366SerfsTer?) c.7066_7067insCTGCTTTCGACCGTCCTTT (p.Leu2356SerfsTer?) c.7018_7019insCTGCTTTCGACCGTCCTTT (p.Leu2340SerfsTer?) c.6979_6980insCTGCTTTCGACCGTCCTTT (p.Leu2327SerfsTer?) c.6904_6905insCTGCTTTCGACCGTCCTTT (p.Leu2302SerfsTer?) n.8775_8776insCTGCTTTCGACCGTCCTTT c.7093_7094insCTGCTTTCGACCGTCCTTT (p.Leu2365SerfsTer?) c.7063_7064insCTGCTTTCGACCGTCCTTT (p.Leu2355SerfsTer?) c.7015_7016insCTGCTTTCGACCGTCCTTT (p.Leu2339SerfsTer?) c.6982_6983insCTGCTTTCGACCGTCCTTT (p.Leu2328SerfsTer?) c.6952_6953insCTGCTTTCGACCGTCCTTT (p.Leu2318SerfsTer?) c.6949_6950insCTGCTTTCGACCGTCCTTT (p.Leu2317SerfsTer?) c.6901_6902insCTGCTTTCGACCGTCCTTT (p.Leu2301SerfsTer?) c.6865_6866insCTGCTTTCGACCGTCCTTT (p.Leu2289SerfsTer?) c.6862_6863insCTGCTTTCGACCGTCCTTT (p.Leu2288SerfsTer?) c.6817_6818insCTGCTTTCGACCGTCCTTT (p.Leu2273SerfsTer?) n.7482_7483insCTGCTTTCGACCGTCCTTT | |
X | g.77520806T>A | CA517374371 | ATRX | c.7182A>T (p.Val2394=) c.2280A>T (p.Val760=) c.7068A>T (p.Val2356=) c.*6810A>T (n.*6810A>T) n.5502A>T n.413A>T c.7179A>T (p.Val2393=) c.7095A>T (p.Val2365=) c.7065A>T (p.Val2355=) c.7017A>T (p.Val2339=) c.6978A>T (p.Val2326=) c.6903A>T (p.Val2301=) n.8774A>T c.7092A>T (p.Val2364=) c.7062A>T (p.Val2354=) c.7014A>T (p.Val2338=) c.6981A>T (p.Val2327=) c.6951A>T (p.Val2317=) c.6948A>T (p.Val2316=) c.6900A>T (p.Val2300=) c.6864A>T (p.Val2288=) c.6861A>T (p.Val2287=) c.6816A>T (p.Val2272=) n.7481A>T | |
X | g.77520806T>C | CA331560697 | ATRX | c.7182A>G (p.Val2394=) c.2280A>G (p.Val760=) c.7068A>G (p.Val2356=) c.*6810A>G (n.*6810A>G) n.5502A>G n.413A>G c.7179A>G (p.Val2393=) c.7095A>G (p.Val2365=) c.7065A>G (p.Val2355=) c.7017A>G (p.Val2339=) c.6978A>G (p.Val2326=) c.6903A>G (p.Val2301=) n.8774A>G c.7092A>G (p.Val2364=) c.7062A>G (p.Val2354=) c.7014A>G (p.Val2338=) c.6981A>G (p.Val2327=) c.6951A>G (p.Val2317=) c.6948A>G (p.Val2316=) c.6900A>G (p.Val2300=) c.6864A>G (p.Val2288=) c.6861A>G (p.Val2287=) c.6816A>G (p.Val2272=) n.7481A>G | dbSNP |
X | g.77520806T>G | CA517374372 | ATRX | c.7182A>C (p.Val2394=) c.2280A>C (p.Val760=) c.7068A>C (p.Val2356=) c.*6810A>C (n.*6810A>C) n.5502A>C n.413A>C c.7179A>C (p.Val2393=) c.7095A>C (p.Val2365=) c.7065A>C (p.Val2355=) c.7017A>C (p.Val2339=) c.6978A>C (p.Val2326=) c.6903A>C (p.Val2301=) n.8774A>C c.7092A>C (p.Val2364=) c.7062A>C (p.Val2354=) c.7014A>C (p.Val2338=) c.6981A>C (p.Val2327=) c.6951A>C (p.Val2317=) c.6948A>C (p.Val2316=) c.6900A>C (p.Val2300=) c.6864A>C (p.Val2288=) c.6861A>C (p.Val2287=) c.6816A>C (p.Val2272=) n.7481A>C | |
X | g.77520806T= | CA2438933056 | ATRX | c.7182A= (p.Val2394=) c.2280A= (p.Val760=) c.7068A= (p.Val2356=) c.*6810A= (n.*6810A=) n.5502A= n.413A= c.7179A= (p.Val2393=) c.7095A= (p.Val2365=) c.7065A= (p.Val2355=) c.7017A= (p.Val2339=) c.6978A= (p.Val2326=) c.6903A= (p.Val2301=) n.8774A= c.7092A= (p.Val2364=) c.7062A= (p.Val2354=) c.7014A= (p.Val2338=) c.6981A= (p.Val2327=) c.6951A= (p.Val2317=) c.6948A= (p.Val2316=) c.6900A= (p.Val2300=) c.6864A= (p.Val2288=) c.6861A= (p.Val2287=) c.6816A= (p.Val2272=) n.7481A= | |
X | g.77520807A>C | CA413707005 | ATRX | c.7181T>G (p.Val2394Gly) c.2279T>G (p.Val760Gly) c.7067T>G (p.Val2356Gly) c.*6809T>G (n.*6809T>G) n.5501T>G n.412T>G c.7178T>G (p.Val2393Gly) c.7094T>G (p.Val2365Gly) c.7064T>G (p.Val2355Gly) c.7016T>G (p.Val2339Gly) c.6977T>G (p.Val2326Gly) c.6902T>G (p.Val2301Gly) n.8773T>G c.7091T>G (p.Val2364Gly) c.7061T>G (p.Val2354Gly) c.7013T>G (p.Val2338Gly) c.6980T>G (p.Val2327Gly) c.6950T>G (p.Val2317Gly) c.6947T>G (p.Val2316Gly) c.6899T>G (p.Val2300Gly) c.6863T>G (p.Val2288Gly) c.6860T>G (p.Val2287Gly) c.6815T>G (p.Val2272Gly) n.7480T>G | |
X | g.77520807A>G | CA413707006 | ATRX | c.7181T>C (p.Val2394Ala) c.2279T>C (p.Val760Ala) c.7067T>C (p.Val2356Ala) c.*6809T>C (n.*6809T>C) n.5501T>C n.412T>C c.7178T>C (p.Val2393Ala) c.7094T>C (p.Val2365Ala) c.7064T>C (p.Val2355Ala) c.7016T>C (p.Val2339Ala) c.6977T>C (p.Val2326Ala) c.6902T>C (p.Val2301Ala) n.8773T>C c.7091T>C (p.Val2364Ala) c.7061T>C (p.Val2354Ala) c.7013T>C (p.Val2338Ala) c.6980T>C (p.Val2327Ala) c.6950T>C (p.Val2317Ala) c.6947T>C (p.Val2316Ala) c.6899T>C (p.Val2300Ala) c.6863T>C (p.Val2288Ala) c.6860T>C (p.Val2287Ala) c.6815T>C (p.Val2272Ala) n.7480T>C | COSMIC COSMIC |
X | g.77520807A>T | CA413707003 | ATRX | c.7181T>A (p.Val2394Glu) c.2279T>A (p.Val760Glu) c.7067T>A (p.Val2356Glu) c.*6809T>A (n.*6809T>A) n.5501T>A n.412T>A c.7178T>A (p.Val2393Glu) c.7094T>A (p.Val2365Glu) c.7064T>A (p.Val2355Glu) c.7016T>A (p.Val2339Glu) c.6977T>A (p.Val2326Glu) c.6902T>A (p.Val2301Glu) n.8773T>A c.7091T>A (p.Val2364Glu) c.7061T>A (p.Val2354Glu) c.7013T>A (p.Val2338Glu) c.6980T>A (p.Val2327Glu) c.6950T>A (p.Val2317Glu) c.6947T>A (p.Val2316Glu) c.6899T>A (p.Val2300Glu) c.6863T>A (p.Val2288Glu) c.6860T>A (p.Val2287Glu) c.6815T>A (p.Val2272Glu) n.7480T>A | |
X | g.77520807_77520808insGGAAGAACACCACAACTTCAGTGCC | CA2562300966 | ATRX | c.7180_7181insGGCACTGAAGTTGTGGTGTTCTTCC (p.Val2394GlyfsTer3) c.2278_2279insGGCACTGAAGTTGTGGTGTTCTTCC (p.Val760GlyfsTer3) c.7066_7067insGGCACTGAAGTTGTGGTGTTCTTCC (p.Val2356GlyfsTer3) c.*6808_*6809insGGCACTGAAGTTGTGGTGTTCTTCC (n.*6808_*6809insGGCACTGAAGTTGTGGTGTTCTTCC) n.5500_5501insGGCACTGAAGTTGTGGTGTTCTTCC n.411_412insGGCACTGAAGTTGTGGTGTTCTTCC c.7177_7178insGGCACTGAAGTTGTGGTGTTCTTCC (p.Val2393GlyfsTer3) c.7093_7094insGGCACTGAAGTTGTGGTGTTCTTCC (p.Val2365GlyfsTer3) c.7063_7064insGGCACTGAAGTTGTGGTGTTCTTCC (p.Val2355GlyfsTer3) c.7015_7016insGGCACTGAAGTTGTGGTGTTCTTCC (p.Val2339GlyfsTer3) c.6976_6977insGGCACTGAAGTTGTGGTGTTCTTCC (p.Val2326GlyfsTer3) c.6901_6902insGGCACTGAAGTTGTGGTGTTCTTCC (p.Val2301GlyfsTer3) n.8772_8773insGGCACTGAAGTTGTGGTGTTCTTCC c.7090_7091insGGCACTGAAGTTGTGGTGTTCTTCC (p.Val2364GlyfsTer3) c.7060_7061insGGCACTGAAGTTGTGGTGTTCTTCC (p.Val2354GlyfsTer3) c.7012_7013insGGCACTGAAGTTGTGGTGTTCTTCC (p.Val2338GlyfsTer3) c.6979_6980insGGCACTGAAGTTGTGGTGTTCTTCC (p.Val2327GlyfsTer3) c.6949_6950insGGCACTGAAGTTGTGGTGTTCTTCC (p.Val2317GlyfsTer3) c.6946_6947insGGCACTGAAGTTGTGGTGTTCTTCC (p.Val2316GlyfsTer3) c.6898_6899insGGCACTGAAGTTGTGGTGTTCTTCC (p.Val2300GlyfsTer3) c.6862_6863insGGCACTGAAGTTGTGGTGTTCTTCC (p.Val2288GlyfsTer3) c.6859_6860insGGCACTGAAGTTGTGGTGTTCTTCC (p.Val2287GlyfsTer3) c.6814_6815insGGCACTGAAGTTGTGGTGTTCTTCC (p.Val2272GlyfsTer3) n.7479_7480insGGCACTGAAGTTGTGGTGTTCTTCC | |
X | g.77520807_77520808insGGAAGAACACCACAACTTCAGTGCCCATACCAAAGATAAGCCAAAGGTCTGCCCCCTCAATATGAATCAACTTAAGGAGTGCTCCAAGTACAACGATAGAGGCACCC | CA2544654674 | ATRX | c.7180_7181insGGGTGCCTCTATCGTTGTACTTGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGTATGGGCACTGAAGTTGTGGTGTTCTTCC (p.Val2394GlyfsTer14) c.2278_2279insGGGTGCCTCTATCGTTGTACTTGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGTATGGGCACTGAAGTTGTGGTGTTCTTCC (p.Val760GlyfsTer14) c.7066_7067insGGGTGCCTCTATCGTTGTACTTGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGTATGGGCACTGAAGTTGTGGTGTTCTTCC (p.Val2356GlyfsTer14) c.*6808_*6809insGGGTGCCTCTATCGTTGTACTTGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGTATGGGCACTGAAGTTGTGGTGTTCTTCC (n.*6808_*6809insGGGTGCCTCTATCGTTGTACTTGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGTATGGGCACTGAAGTTGTGGTGTTCTTCC) n.5500_5501insGGGTGCCTCTATCGTTGTACTTGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGTATGGGCACTGAAGTTGTGGTGTTCTTCC n.411_412insGGGTGCCTCTATCGTTGTACTTGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGTATGGGCACTGAAGTTGTGGTGTTCTTCC c.7177_7178insGGGTGCCTCTATCGTTGTACTTGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGTATGGGCACTGAAGTTGTGGTGTTCTTCC (p.Val2393GlyfsTer14) c.7093_7094insGGGTGCCTCTATCGTTGTACTTGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGTATGGGCACTGAAGTTGTGGTGTTCTTCC (p.Val2365GlyfsTer14) c.7063_7064insGGGTGCCTCTATCGTTGTACTTGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGTATGGGCACTGAAGTTGTGGTGTTCTTCC (p.Val2355GlyfsTer14) c.7015_7016insGGGTGCCTCTATCGTTGTACTTGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGTATGGGCACTGAAGTTGTGGTGTTCTTCC (p.Val2339GlyfsTer14) c.6976_6977insGGGTGCCTCTATCGTTGTACTTGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGTATGGGCACTGAAGTTGTGGTGTTCTTCC (p.Val2326GlyfsTer14) c.6901_6902insGGGTGCCTCTATCGTTGTACTTGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGTATGGGCACTGAAGTTGTGGTGTTCTTCC (p.Val2301GlyfsTer14) n.8772_8773insGGGTGCCTCTATCGTTGTACTTGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGTATGGGCACTGAAGTTGTGGTGTTCTTCC c.7090_7091insGGGTGCCTCTATCGTTGTACTTGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGTATGGGCACTGAAGTTGTGGTGTTCTTCC (p.Val2364GlyfsTer14) c.7060_7061insGGGTGCCTCTATCGTTGTACTTGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGTATGGGCACTGAAGTTGTGGTGTTCTTCC (p.Val2354GlyfsTer14) c.7012_7013insGGGTGCCTCTATCGTTGTACTTGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGTATGGGCACTGAAGTTGTGGTGTTCTTCC (p.Val2338GlyfsTer14) c.6979_6980insGGGTGCCTCTATCGTTGTACTTGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGTATGGGCACTGAAGTTGTGGTGTTCTTCC (p.Val2327GlyfsTer14) c.6949_6950insGGGTGCCTCTATCGTTGTACTTGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGTATGGGCACTGAAGTTGTGGTGTTCTTCC (p.Val2317GlyfsTer14) c.6946_6947insGGGTGCCTCTATCGTTGTACTTGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGTATGGGCACTGAAGTTGTGGTGTTCTTCC (p.Val2316GlyfsTer14) c.6898_6899insGGGTGCCTCTATCGTTGTACTTGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGTATGGGCACTGAAGTTGTGGTGTTCTTCC (p.Val2300GlyfsTer14) c.6862_6863insGGGTGCCTCTATCGTTGTACTTGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGTATGGGCACTGAAGTTGTGGTGTTCTTCC (p.Val2288GlyfsTer14) c.6859_6860insGGGTGCCTCTATCGTTGTACTTGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGTATGGGCACTGAAGTTGTGGTGTTCTTCC (p.Val2287GlyfsTer14) c.6814_6815insGGGTGCCTCTATCGTTGTACTTGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGTATGGGCACTGAAGTTGTGGTGTTCTTCC (p.Val2272GlyfsTer14) n.7479_7480insGGGTGCCTCTATCGTTGTACTTGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGTATGGGCACTGAAGTTGTGGTGTTCTTCC | |
X | g.77520807_77520808insGGAAGAACACCACAACTTCAGTGCCCATACCAAAGATAAGCCAAAGGTCTGCCCCCTCAATATGAATCAACTTAAGGAGTGCTCCGAGTACAACGATAGAGGCACCC | CA2562301985 | ATRX | c.7180_7181insGGGTGCCTCTATCGTTGTACTCGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGTATGGGCACTGAAGTTGTGGTGTTCTTCC (p.Val2394GlyfsTer14) c.2278_2279insGGGTGCCTCTATCGTTGTACTCGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGTATGGGCACTGAAGTTGTGGTGTTCTTCC (p.Val760GlyfsTer14) c.7066_7067insGGGTGCCTCTATCGTTGTACTCGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGTATGGGCACTGAAGTTGTGGTGTTCTTCC (p.Val2356GlyfsTer14) c.*6808_*6809insGGGTGCCTCTATCGTTGTACTCGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGTATGGGCACTGAAGTTGTGGTGTTCTTCC (n.*6808_*6809insGGGTGCCTCTATCGTTGTACTCGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGTATGGGCACTGAAGTTGTGGTGTTCTTCC) n.5500_5501insGGGTGCCTCTATCGTTGTACTCGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGTATGGGCACTGAAGTTGTGGTGTTCTTCC n.411_412insGGGTGCCTCTATCGTTGTACTCGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGTATGGGCACTGAAGTTGTGGTGTTCTTCC c.7177_7178insGGGTGCCTCTATCGTTGTACTCGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGTATGGGCACTGAAGTTGTGGTGTTCTTCC (p.Val2393GlyfsTer14) c.7093_7094insGGGTGCCTCTATCGTTGTACTCGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGTATGGGCACTGAAGTTGTGGTGTTCTTCC (p.Val2365GlyfsTer14) c.7063_7064insGGGTGCCTCTATCGTTGTACTCGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGTATGGGCACTGAAGTTGTGGTGTTCTTCC (p.Val2355GlyfsTer14) c.7015_7016insGGGTGCCTCTATCGTTGTACTCGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGTATGGGCACTGAAGTTGTGGTGTTCTTCC (p.Val2339GlyfsTer14) c.6976_6977insGGGTGCCTCTATCGTTGTACTCGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGTATGGGCACTGAAGTTGTGGTGTTCTTCC (p.Val2326GlyfsTer14) c.6901_6902insGGGTGCCTCTATCGTTGTACTCGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGTATGGGCACTGAAGTTGTGGTGTTCTTCC (p.Val2301GlyfsTer14) n.8772_8773insGGGTGCCTCTATCGTTGTACTCGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGTATGGGCACTGAAGTTGTGGTGTTCTTCC c.7090_7091insGGGTGCCTCTATCGTTGTACTCGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGTATGGGCACTGAAGTTGTGGTGTTCTTCC (p.Val2364GlyfsTer14) c.7060_7061insGGGTGCCTCTATCGTTGTACTCGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGTATGGGCACTGAAGTTGTGGTGTTCTTCC (p.Val2354GlyfsTer14) c.7012_7013insGGGTGCCTCTATCGTTGTACTCGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGTATGGGCACTGAAGTTGTGGTGTTCTTCC (p.Val2338GlyfsTer14) c.6979_6980insGGGTGCCTCTATCGTTGTACTCGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGTATGGGCACTGAAGTTGTGGTGTTCTTCC (p.Val2327GlyfsTer14) c.6949_6950insGGGTGCCTCTATCGTTGTACTCGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGTATGGGCACTGAAGTTGTGGTGTTCTTCC (p.Val2317GlyfsTer14) c.6946_6947insGGGTGCCTCTATCGTTGTACTCGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGTATGGGCACTGAAGTTGTGGTGTTCTTCC (p.Val2316GlyfsTer14) c.6898_6899insGGGTGCCTCTATCGTTGTACTCGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGTATGGGCACTGAAGTTGTGGTGTTCTTCC (p.Val2300GlyfsTer14) c.6862_6863insGGGTGCCTCTATCGTTGTACTCGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGTATGGGCACTGAAGTTGTGGTGTTCTTCC (p.Val2288GlyfsTer14) c.6859_6860insGGGTGCCTCTATCGTTGTACTCGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGTATGGGCACTGAAGTTGTGGTGTTCTTCC (p.Val2287GlyfsTer14) c.6814_6815insGGGTGCCTCTATCGTTGTACTCGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGTATGGGCACTGAAGTTGTGGTGTTCTTCC (p.Val2272GlyfsTer14) n.7479_7480insGGGTGCCTCTATCGTTGTACTCGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGTATGGGCACTGAAGTTGTGGTGTTCTTCC | |
X | g.77520808C>A | CA413707009 | ATRX | c.7180G>T (p.Val2394Leu) c.2278G>T (p.Val760Leu) c.7066G>T (p.Val2356Leu) c.*6808G>T (n.*6808G>T) n.5500G>T n.411G>T c.7177G>T (p.Val2393Leu) c.7093G>T (p.Val2365Leu) c.7063G>T (p.Val2355Leu) c.7015G>T (p.Val2339Leu) c.6976G>T (p.Val2326Leu) c.6901G>T (p.Val2301Leu) n.8772G>T c.7090G>T (p.Val2364Leu) c.7060G>T (p.Val2354Leu) c.7012G>T (p.Val2338Leu) c.6979G>T (p.Val2327Leu) c.6949G>T (p.Val2317Leu) c.6946G>T (p.Val2316Leu) c.6898G>T (p.Val2300Leu) c.6862G>T (p.Val2288Leu) c.6859G>T (p.Val2287Leu) c.6814G>T (p.Val2272Leu) n.7479G>T | |
X | g.77520808C>G | CA413707011 | ATRX | c.7180G>C (p.Val2394Leu) c.2278G>C (p.Val760Leu) c.7066G>C (p.Val2356Leu) c.*6808G>C (n.*6808G>C) n.5500G>C n.411G>C c.7177G>C (p.Val2393Leu) c.7093G>C (p.Val2365Leu) c.7063G>C (p.Val2355Leu) c.7015G>C (p.Val2339Leu) c.6976G>C (p.Val2326Leu) c.6901G>C (p.Val2301Leu) n.8772G>C c.7090G>C (p.Val2364Leu) c.7060G>C (p.Val2354Leu) c.7012G>C (p.Val2338Leu) c.6979G>C (p.Val2327Leu) c.6949G>C (p.Val2317Leu) c.6946G>C (p.Val2316Leu) c.6898G>C (p.Val2300Leu) c.6862G>C (p.Val2288Leu) c.6859G>C (p.Val2287Leu) c.6814G>C (p.Val2272Leu) n.7479G>C | |
X | g.77520808C>T | CA413707012 | ATRX | c.7180G>A (p.Val2394Ile) c.2278G>A (p.Val760Ile) c.7066G>A (p.Val2356Ile) c.*6808G>A (n.*6808G>A) n.5500G>A n.411G>A c.7177G>A (p.Val2393Ile) c.7093G>A (p.Val2365Ile) c.7063G>A (p.Val2355Ile) c.7015G>A (p.Val2339Ile) c.6976G>A (p.Val2326Ile) c.6901G>A (p.Val2301Ile) n.8772G>A c.7090G>A (p.Val2364Ile) c.7060G>A (p.Val2354Ile) c.7012G>A (p.Val2338Ile) c.6979G>A (p.Val2327Ile) c.6949G>A (p.Val2317Ile) c.6946G>A (p.Val2316Ile) c.6898G>A (p.Val2300Ile) c.6862G>A (p.Val2288Ile) c.6859G>A (p.Val2287Ile) c.6814G>A (p.Val2272Ile) n.7479G>A | |
X | g.77520809A>C | CA413707013 | ATRX | c.7179T>G (p.Asp2393Glu) c.2277T>G (p.Asp759Glu) c.7065T>G (p.Asp2355Glu) c.*6807T>G (n.*6807T>G) n.5499T>G n.410T>G c.7176T>G (p.Asp2392Glu) c.7092T>G (p.Asp2364Glu) c.7062T>G (p.Asp2354Glu) c.7014T>G (p.Asp2338Glu) c.6975T>G (p.Asp2325Glu) c.6900T>G (p.Asp2300Glu) n.8771T>G c.7089T>G (p.Asp2363Glu) c.7059T>G (p.Asp2353Glu) c.7011T>G (p.Asp2337Glu) c.6978T>G (p.Asp2326Glu) c.6948T>G (p.Asp2316Glu) c.6945T>G (p.Asp2315Glu) c.6897T>G (p.Asp2299Glu) c.6861T>G (p.Asp2287Glu) c.6858T>G (p.Asp2286Glu) c.6813T>G (p.Asp2271Glu) n.7478T>G | |
X | g.77520809A>G | CA517374373 | ATRX | c.7179T>C (p.Asp2393=) c.2277T>C (p.Asp759=) c.7065T>C (p.Asp2355=) c.*6807T>C (n.*6807T>C) n.5499T>C n.410T>C c.7176T>C (p.Asp2392=) c.7092T>C (p.Asp2364=) c.7062T>C (p.Asp2354=) c.7014T>C (p.Asp2338=) c.6975T>C (p.Asp2325=) c.6900T>C (p.Asp2300=) n.8771T>C c.7089T>C (p.Asp2363=) c.7059T>C (p.Asp2353=) c.7011T>C (p.Asp2337=) c.6978T>C (p.Asp2326=) c.6948T>C (p.Asp2316=) c.6945T>C (p.Asp2315=) c.6897T>C (p.Asp2299=) c.6861T>C (p.Asp2287=) c.6858T>C (p.Asp2286=) c.6813T>C (p.Asp2271=) n.7478T>C | gnomAD v4 |
X | g.77520809A>T | CA413707014 | ATRX | c.7179T>A (p.Asp2393Glu) c.2277T>A (p.Asp759Glu) c.7065T>A (p.Asp2355Glu) c.*6807T>A (n.*6807T>A) n.5499T>A n.410T>A c.7176T>A (p.Asp2392Glu) c.7092T>A (p.Asp2364Glu) c.7062T>A (p.Asp2354Glu) c.7014T>A (p.Asp2338Glu) c.6975T>A (p.Asp2325Glu) c.6900T>A (p.Asp2300Glu) n.8771T>A c.7089T>A (p.Asp2363Glu) c.7059T>A (p.Asp2353Glu) c.7011T>A (p.Asp2337Glu) c.6978T>A (p.Asp2326Glu) c.6948T>A (p.Asp2316Glu) c.6945T>A (p.Asp2315Glu) c.6897T>A (p.Asp2299Glu) c.6861T>A (p.Asp2287Glu) c.6858T>A (p.Asp2286Glu) c.6813T>A (p.Asp2271Glu) n.7478T>A | |
X | g.77520810T>A | CA413707016 | ATRX | c.7178A>T (p.Asp2393Val) c.2276A>T (p.Asp759Val) c.7064A>T (p.Asp2355Val) c.*6806A>T (n.*6806A>T) n.5498A>T n.409A>T c.7175A>T (p.Asp2392Val) c.7091A>T (p.Asp2364Val) c.7061A>T (p.Asp2354Val) c.7013A>T (p.Asp2338Val) c.6974A>T (p.Asp2325Val) c.6899A>T (p.Asp2300Val) n.8770A>T c.7088A>T (p.Asp2363Val) c.7058A>T (p.Asp2353Val) c.7010A>T (p.Asp2337Val) c.6977A>T (p.Asp2326Val) c.6947A>T (p.Asp2316Val) c.6944A>T (p.Asp2315Val) c.6896A>T (p.Asp2299Val) c.6860A>T (p.Asp2287Val) c.6857A>T (p.Asp2286Val) c.6812A>T (p.Asp2271Val) n.7477A>T | |
X | g.77520810T>C | CA413707018 | ATRX | c.7178A>G (p.Asp2393Gly) c.2276A>G (p.Asp759Gly) c.7064A>G (p.Asp2355Gly) c.*6806A>G (n.*6806A>G) n.5498A>G n.409A>G c.7175A>G (p.Asp2392Gly) c.7091A>G (p.Asp2364Gly) c.7061A>G (p.Asp2354Gly) c.7013A>G (p.Asp2338Gly) c.6974A>G (p.Asp2325Gly) c.6899A>G (p.Asp2300Gly) n.8770A>G c.7088A>G (p.Asp2363Gly) c.7058A>G (p.Asp2353Gly) c.7010A>G (p.Asp2337Gly) c.6977A>G (p.Asp2326Gly) c.6947A>G (p.Asp2316Gly) c.6944A>G (p.Asp2315Gly) c.6896A>G (p.Asp2299Gly) c.6860A>G (p.Asp2287Gly) c.6857A>G (p.Asp2286Gly) c.6812A>G (p.Asp2271Gly) n.7477A>G | |
X | g.77520810T>G | CA413707026 | ATRX | c.7178A>C (p.Asp2393Ala) c.2276A>C (p.Asp759Ala) c.7064A>C (p.Asp2355Ala) c.*6806A>C (n.*6806A>C) n.5498A>C n.409A>C c.7175A>C (p.Asp2392Ala) c.7091A>C (p.Asp2364Ala) c.7061A>C (p.Asp2354Ala) c.7013A>C (p.Asp2338Ala) c.6974A>C (p.Asp2325Ala) c.6899A>C (p.Asp2300Ala) n.8770A>C c.7088A>C (p.Asp2363Ala) c.7058A>C (p.Asp2353Ala) c.7010A>C (p.Asp2337Ala) c.6977A>C (p.Asp2326Ala) c.6947A>C (p.Asp2316Ala) c.6944A>C (p.Asp2315Ala) c.6896A>C (p.Asp2299Ala) c.6860A>C (p.Asp2287Ala) c.6857A>C (p.Asp2286Ala) c.6812A>C (p.Asp2271Ala) n.7477A>C | |
X | g.77520810_77520811insACCAAAGATAAGCCAAAGGTCTGCCCCCTCAATATGAATCAACTTAAGGAGTGCTCCGAGTACAACGATAGAGGCACCCCAG | CA2523330629 | ATRX | c.7177_7178insCTGGGGTGCCTCTATCGTTGTACTCGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGT (p.Asp2393AlafsTer15) c.2275_2276insCTGGGGTGCCTCTATCGTTGTACTCGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGT (p.Asp759AlafsTer15) c.7063_7064insCTGGGGTGCCTCTATCGTTGTACTCGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGT (p.Asp2355AlafsTer15) c.*6805_*6806insCTGGGGTGCCTCTATCGTTGTACTCGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGT (n.*6805_*6806insCTGGGGTGCCTCTATCGTTGTACTCGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGT) n.5497_5498insCTGGGGTGCCTCTATCGTTGTACTCGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGT n.408_409insCTGGGGTGCCTCTATCGTTGTACTCGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGT c.7174_7175insCTGGGGTGCCTCTATCGTTGTACTCGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGT (p.Asp2392AlafsTer15) c.7090_7091insCTGGGGTGCCTCTATCGTTGTACTCGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGT (p.Asp2364AlafsTer15) c.7060_7061insCTGGGGTGCCTCTATCGTTGTACTCGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGT (p.Asp2354AlafsTer15) c.7012_7013insCTGGGGTGCCTCTATCGTTGTACTCGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGT (p.Asp2338AlafsTer15) c.6973_6974insCTGGGGTGCCTCTATCGTTGTACTCGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGT (p.Asp2325AlafsTer15) c.6898_6899insCTGGGGTGCCTCTATCGTTGTACTCGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGT (p.Asp2300AlafsTer15) n.8769_8770insCTGGGGTGCCTCTATCGTTGTACTCGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGT c.7087_7088insCTGGGGTGCCTCTATCGTTGTACTCGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGT (p.Asp2363AlafsTer15) c.7057_7058insCTGGGGTGCCTCTATCGTTGTACTCGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGT (p.Asp2353AlafsTer15) c.7009_7010insCTGGGGTGCCTCTATCGTTGTACTCGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGT (p.Asp2337AlafsTer15) c.6976_6977insCTGGGGTGCCTCTATCGTTGTACTCGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGT (p.Asp2326AlafsTer15) c.6946_6947insCTGGGGTGCCTCTATCGTTGTACTCGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGT (p.Asp2316AlafsTer15) c.6943_6944insCTGGGGTGCCTCTATCGTTGTACTCGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGT (p.Asp2315AlafsTer15) c.6895_6896insCTGGGGTGCCTCTATCGTTGTACTCGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGT (p.Asp2299AlafsTer15) c.6859_6860insCTGGGGTGCCTCTATCGTTGTACTCGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGT (p.Asp2287AlafsTer15) c.6856_6857insCTGGGGTGCCTCTATCGTTGTACTCGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGT (p.Asp2286AlafsTer15) c.6811_6812insCTGGGGTGCCTCTATCGTTGTACTCGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGT (p.Asp2271AlafsTer15) n.7476_7477insCTGGGGTGCCTCTATCGTTGTACTCGGAGCACTCCTTAAGTTGATTCATATTGAGGGGGCAGACCTTTGGCTTATCTTTGGT | |
X | g.77520811C>A | CA413707028 | ATRX | c.7177G>T (p.Asp2393Tyr) c.2275G>T (p.Asp759Tyr) c.7063G>T (p.Asp2355Tyr) c.*6805G>T (n.*6805G>T) n.5497G>T n.408G>T c.7174G>T (p.Asp2392Tyr) c.7090G>T (p.Asp2364Tyr) c.7060G>T (p.Asp2354Tyr) c.7012G>T (p.Asp2338Tyr) c.6973G>T (p.Asp2325Tyr) c.6898G>T (p.Asp2300Tyr) n.8769G>T c.7087G>T (p.Asp2363Tyr) c.7057G>T (p.Asp2353Tyr) c.7009G>T (p.Asp2337Tyr) c.6976G>T (p.Asp2326Tyr) c.6946G>T (p.Asp2316Tyr) c.6943G>T (p.Asp2315Tyr) c.6895G>T (p.Asp2299Tyr) c.6859G>T (p.Asp2287Tyr) c.6856G>T (p.Asp2286Tyr) c.6811G>T (p.Asp2271Tyr) n.7476G>T | |
X | g.77520811C>G | CA413707030 | ATRX | c.7177G>C (p.Asp2393His) c.2275G>C (p.Asp759His) c.7063G>C (p.Asp2355His) c.*6805G>C (n.*6805G>C) n.5497G>C n.408G>C c.7174G>C (p.Asp2392His) c.7090G>C (p.Asp2364His) c.7060G>C (p.Asp2354His) c.7012G>C (p.Asp2338His) c.6973G>C (p.Asp2325His) c.6898G>C (p.Asp2300His) n.8769G>C c.7087G>C (p.Asp2363His) c.7057G>C (p.Asp2353His) c.7009G>C (p.Asp2337His) c.6976G>C (p.Asp2326His) c.6946G>C (p.Asp2316His) c.6943G>C (p.Asp2315His) c.6895G>C (p.Asp2299His) c.6859G>C (p.Asp2287His) c.6856G>C (p.Asp2286His) c.6811G>C (p.Asp2271His) n.7476G>C | |
X | g.77520811C>T | CA413707032 | ATRX | c.7177G>A (p.Asp2393Asn) c.2275G>A (p.Asp759Asn) c.7063G>A (p.Asp2355Asn) c.*6805G>A (n.*6805G>A) n.5497G>A n.408G>A c.7174G>A (p.Asp2392Asn) c.7090G>A (p.Asp2364Asn) c.7060G>A (p.Asp2354Asn) c.7012G>A (p.Asp2338Asn) c.6973G>A (p.Asp2325Asn) c.6898G>A (p.Asp2300Asn) n.8769G>A c.7087G>A (p.Asp2363Asn) c.7057G>A (p.Asp2353Asn) c.7009G>A (p.Asp2337Asn) c.6976G>A (p.Asp2326Asn) c.6946G>A (p.Asp2316Asn) c.6943G>A (p.Asp2315Asn) c.6895G>A (p.Asp2299Asn) c.6859G>A (p.Asp2287Asn) c.6856G>A (p.Asp2286Asn) c.6811G>A (p.Asp2271Asn) n.7476G>A | |
X | g.77520812A>C | CA413707034 | ATRX | c.7176T>G (p.Asn2392Lys) c.2274T>G (p.Asn758Lys) c.7062T>G (p.Asn2354Lys) c.*6804T>G (n.*6804T>G) n.5496T>G n.407T>G c.7173T>G (p.Asn2391Lys) c.7089T>G (p.Asn2363Lys) c.7059T>G (p.Asn2353Lys) c.7011T>G (p.Asn2337Lys) c.6972T>G (p.Asn2324Lys) c.6897T>G (p.Asn2299Lys) n.8768T>G c.7086T>G (p.Asn2362Lys) c.7056T>G (p.Asn2352Lys) c.7008T>G (p.Asn2336Lys) c.6975T>G (p.Asn2325Lys) c.6945T>G (p.Asn2315Lys) c.6942T>G (p.Asn2314Lys) c.6894T>G (p.Asn2298Lys) c.6858T>G (p.Asn2286Lys) c.6855T>G (p.Asn2285Lys) c.6810T>G (p.Asn2270Lys) n.7475T>G | |
X | g.77520812A>G | CA517374374 | ATRX | c.7176T>C (p.Asn2392=) c.2274T>C (p.Asn758=) c.7062T>C (p.Asn2354=) c.*6804T>C (n.*6804T>C) n.5496T>C n.407T>C c.7173T>C (p.Asn2391=) c.7089T>C (p.Asn2363=) c.7059T>C (p.Asn2353=) c.7011T>C (p.Asn2337=) c.6972T>C (p.Asn2324=) c.6897T>C (p.Asn2299=) n.8768T>C c.7086T>C (p.Asn2362=) c.7056T>C (p.Asn2352=) c.7008T>C (p.Asn2336=) c.6975T>C (p.Asn2325=) c.6945T>C (p.Asn2315=) c.6942T>C (p.Asn2314=) c.6894T>C (p.Asn2298=) c.6858T>C (p.Asn2286=) c.6855T>C (p.Asn2285=) c.6810T>C (p.Asn2270=) n.7475T>C | |
X | g.77520812A>T | CA413707036 | ATRX | c.7176T>A (p.Asn2392Lys) c.2274T>A (p.Asn758Lys) c.7062T>A (p.Asn2354Lys) c.*6804T>A (n.*6804T>A) n.5496T>A n.407T>A c.7173T>A (p.Asn2391Lys) c.7089T>A (p.Asn2363Lys) c.7059T>A (p.Asn2353Lys) c.7011T>A (p.Asn2337Lys) c.6972T>A (p.Asn2324Lys) c.6897T>A (p.Asn2299Lys) n.8768T>A c.7086T>A (p.Asn2362Lys) c.7056T>A (p.Asn2352Lys) c.7008T>A (p.Asn2336Lys) c.6975T>A (p.Asn2325Lys) c.6945T>A (p.Asn2315Lys) c.6942T>A (p.Asn2314Lys) c.6894T>A (p.Asn2298Lys) c.6858T>A (p.Asn2286Lys) c.6855T>A (p.Asn2285Lys) c.6810T>A (p.Asn2270Lys) n.7475T>A | |
X | g.77520813T>A | CA413707039 | ATRX | c.7175A>T (p.Asn2392Ile) c.2273A>T (p.Asn758Ile) c.7061A>T (p.Asn2354Ile) c.*6803A>T (n.*6803A>T) n.5495A>T n.406A>T c.7172A>T (p.Asn2391Ile) c.7088A>T (p.Asn2363Ile) c.7058A>T (p.Asn2353Ile) c.7010A>T (p.Asn2337Ile) c.6971A>T (p.Asn2324Ile) c.6896A>T (p.Asn2299Ile) n.8767A>T c.7085A>T (p.Asn2362Ile) c.7055A>T (p.Asn2352Ile) c.7007A>T (p.Asn2336Ile) c.6974A>T (p.Asn2325Ile) c.6944A>T (p.Asn2315Ile) c.6941A>T (p.Asn2314Ile) c.6893A>T (p.Asn2298Ile) c.6857A>T (p.Asn2286Ile) c.6854A>T (p.Asn2285Ile) c.6809A>T (p.Asn2270Ile) n.7474A>T | |
X | g.77520813T>C | CA413707038 | ATRX | c.7175A>G (p.Asn2392Ser) c.2273A>G (p.Asn758Ser) c.7061A>G (p.Asn2354Ser) c.*6803A>G (n.*6803A>G) n.5495A>G n.406A>G c.7172A>G (p.Asn2391Ser) c.7088A>G (p.Asn2363Ser) c.7058A>G (p.Asn2353Ser) c.7010A>G (p.Asn2337Ser) c.6971A>G (p.Asn2324Ser) c.6896A>G (p.Asn2299Ser) n.8767A>G c.7085A>G (p.Asn2362Ser) c.7055A>G (p.Asn2352Ser) c.7007A>G (p.Asn2336Ser) c.6974A>G (p.Asn2325Ser) c.6944A>G (p.Asn2315Ser) c.6941A>G (p.Asn2314Ser) c.6893A>G (p.Asn2298Ser) c.6857A>G (p.Asn2286Ser) c.6854A>G (p.Asn2285Ser) c.6809A>G (p.Asn2270Ser) n.7474A>G | ClinVar gnomAD v4 |
X | g.77520813T>G | CA413707037 | ATRX | c.7175A>C (p.Asn2392Thr) c.2273A>C (p.Asn758Thr) c.7061A>C (p.Asn2354Thr) c.*6803A>C (n.*6803A>C) n.5495A>C n.406A>C c.7172A>C (p.Asn2391Thr) c.7088A>C (p.Asn2363Thr) c.7058A>C (p.Asn2353Thr) c.7010A>C (p.Asn2337Thr) c.6971A>C (p.Asn2324Thr) c.6896A>C (p.Asn2299Thr) n.8767A>C c.7085A>C (p.Asn2362Thr) c.7055A>C (p.Asn2352Thr) c.7007A>C (p.Asn2336Thr) c.6974A>C (p.Asn2325Thr) c.6944A>C (p.Asn2315Thr) c.6941A>C (p.Asn2314Thr) c.6893A>C (p.Asn2298Thr) c.6857A>C (p.Asn2286Thr) c.6854A>C (p.Asn2285Thr) c.6809A>C (p.Asn2270Thr) n.7474A>C | |
X | g.77520814T>A | CA413707040 | ATRX | c.7174A>T (p.Asn2392Tyr) c.2272A>T (p.Asn758Tyr) c.7060A>T (p.Asn2354Tyr) c.*6802A>T (n.*6802A>T) n.5494A>T n.405A>T c.7171A>T (p.Asn2391Tyr) c.7087A>T (p.Asn2363Tyr) c.7057A>T (p.Asn2353Tyr) c.7009A>T (p.Asn2337Tyr) c.6970A>T (p.Asn2324Tyr) c.6895A>T (p.Asn2299Tyr) n.8766A>T c.7084A>T (p.Asn2362Tyr) c.7054A>T (p.Asn2352Tyr) c.7006A>T (p.Asn2336Tyr) c.6973A>T (p.Asn2325Tyr) c.6943A>T (p.Asn2315Tyr) c.6940A>T (p.Asn2314Tyr) c.6892A>T (p.Asn2298Tyr) c.6856A>T (p.Asn2286Tyr) c.6853A>T (p.Asn2285Tyr) c.6808A>T (p.Asn2270Tyr) n.7473A>T | |
X | g.77520814T>C | CA413707041 | ATRX | c.7174A>G (p.Asn2392Asp) c.2272A>G (p.Asn758Asp) c.7060A>G (p.Asn2354Asp) c.*6802A>G (n.*6802A>G) n.5494A>G n.405A>G c.7171A>G (p.Asn2391Asp) c.7087A>G (p.Asn2363Asp) c.7057A>G (p.Asn2353Asp) c.7009A>G (p.Asn2337Asp) c.6970A>G (p.Asn2324Asp) c.6895A>G (p.Asn2299Asp) n.8766A>G c.7084A>G (p.Asn2362Asp) c.7054A>G (p.Asn2352Asp) c.7006A>G (p.Asn2336Asp) c.6973A>G (p.Asn2325Asp) c.6943A>G (p.Asn2315Asp) c.6940A>G (p.Asn2314Asp) c.6892A>G (p.Asn2298Asp) c.6856A>G (p.Asn2286Asp) c.6853A>G (p.Asn2285Asp) c.6808A>G (p.Asn2270Asp) n.7473A>G | gnomAD v4 |
X | g.77520814T>G | CA413707042 | ATRX | c.7174A>C (p.Asn2392His) c.2272A>C (p.Asn758His) c.7060A>C (p.Asn2354His) c.*6802A>C (n.*6802A>C) n.5494A>C n.405A>C c.7171A>C (p.Asn2391His) c.7087A>C (p.Asn2363His) c.7057A>C (p.Asn2353His) c.7009A>C (p.Asn2337His) c.6970A>C (p.Asn2324His) c.6895A>C (p.Asn2299His) n.8766A>C c.7084A>C (p.Asn2362His) c.7054A>C (p.Asn2352His) c.7006A>C (p.Asn2336His) c.6973A>C (p.Asn2325His) c.6943A>C (p.Asn2315His) c.6940A>C (p.Asn2314His) c.6892A>C (p.Asn2298His) c.6856A>C (p.Asn2286His) c.6853A>C (p.Asn2285His) c.6808A>C (p.Asn2270His) n.7473A>C | |
X | g.77520815G>A | CA331560698 | ATRX | c.7173C>T (p.Tyr2391=) c.2271C>T (p.Tyr757=) c.7059C>T (p.Tyr2353=) c.*6801C>T (n.*6801C>T) n.5493C>T n.404C>T c.7170C>T (p.Tyr2390=) c.7086C>T (p.Tyr2362=) c.7056C>T (p.Tyr2352=) c.7008C>T (p.Tyr2336=) c.6969C>T (p.Tyr2323=) c.6894C>T (p.Tyr2298=) n.8765C>T c.7083C>T (p.Tyr2361=) c.7053C>T (p.Tyr2351=) c.7005C>T (p.Tyr2335=) c.6972C>T (p.Tyr2324=) c.6942C>T (p.Tyr2314=) c.6939C>T (p.Tyr2313=) c.6891C>T (p.Tyr2297=) c.6855C>T (p.Tyr2285=) c.6852C>T (p.Tyr2284=) c.6807C>T (p.Tyr2269=) n.7472C>T | dbSNP |
X | g.77520815G>C | CA413707044 | ATRX | c.7173C>G (p.Tyr2391Ter) c.2271C>G (p.Tyr757Ter) c.7059C>G (p.Tyr2353Ter) c.*6801C>G (n.*6801C>G) n.5493C>G n.404C>G c.7170C>G (p.Tyr2390Ter) c.7086C>G (p.Tyr2362Ter) c.7056C>G (p.Tyr2352Ter) c.7008C>G (p.Tyr2336Ter) c.6969C>G (p.Tyr2323Ter) c.6894C>G (p.Tyr2298Ter) n.8765C>G c.7083C>G (p.Tyr2361Ter) c.7053C>G (p.Tyr2351Ter) c.7005C>G (p.Tyr2335Ter) c.6972C>G (p.Tyr2324Ter) c.6942C>G (p.Tyr2314Ter) c.6939C>G (p.Tyr2313Ter) c.6891C>G (p.Tyr2297Ter) c.6855C>G (p.Tyr2285Ter) c.6852C>G (p.Tyr2284Ter) c.6807C>G (p.Tyr2269Ter) n.7472C>G | |
X | g.77520815G= | CA2438933057 | ATRX | c.7173C= (p.Tyr2391=) c.2271C= (p.Tyr757=) c.7059C= (p.Tyr2353=) c.*6801C= (n.*6801C=) n.5493C= n.404C= c.7170C= (p.Tyr2390=) c.7086C= (p.Tyr2362=) c.7056C= (p.Tyr2352=) c.7008C= (p.Tyr2336=) c.6969C= (p.Tyr2323=) c.6894C= (p.Tyr2298=) n.8765C= c.7083C= (p.Tyr2361=) c.7053C= (p.Tyr2351=) c.7005C= (p.Tyr2335=) c.6972C= (p.Tyr2324=) c.6942C= (p.Tyr2314=) c.6939C= (p.Tyr2313=) c.6891C= (p.Tyr2297=) c.6855C= (p.Tyr2285=) c.6852C= (p.Tyr2284=) c.6807C= (p.Tyr2269=) n.7472C= | |
X | g.77520815G>T | CA413707046 | ATRX | c.7173C>A (p.Tyr2391Ter) c.2271C>A (p.Tyr757Ter) c.7059C>A (p.Tyr2353Ter) c.*6801C>A (n.*6801C>A) n.5493C>A n.404C>A c.7170C>A (p.Tyr2390Ter) c.7086C>A (p.Tyr2362Ter) c.7056C>A (p.Tyr2352Ter) c.7008C>A (p.Tyr2336Ter) c.6969C>A (p.Tyr2323Ter) c.6894C>A (p.Tyr2298Ter) n.8765C>A c.7083C>A (p.Tyr2361Ter) c.7053C>A (p.Tyr2351Ter) c.7005C>A (p.Tyr2335Ter) c.6972C>A (p.Tyr2324Ter) c.6942C>A (p.Tyr2314Ter) c.6939C>A (p.Tyr2313Ter) c.6891C>A (p.Tyr2297Ter) c.6855C>A (p.Tyr2285Ter) c.6852C>A (p.Tyr2284Ter) c.6807C>A (p.Tyr2269Ter) n.7472C>A | |
X | g.77520816T>A | CA413707049 | ATRX | c.7172A>T (p.Tyr2391Phe) c.2270A>T (p.Tyr757Phe) c.7058A>T (p.Tyr2353Phe) c.*6800A>T (n.*6800A>T) n.5492A>T n.403A>T c.7169A>T (p.Tyr2390Phe) c.7085A>T (p.Tyr2362Phe) c.7055A>T (p.Tyr2352Phe) c.7007A>T (p.Tyr2336Phe) c.6968A>T (p.Tyr2323Phe) c.6893A>T (p.Tyr2298Phe) n.8764A>T c.7082A>T (p.Tyr2361Phe) c.7052A>T (p.Tyr2351Phe) c.7004A>T (p.Tyr2335Phe) c.6971A>T (p.Tyr2324Phe) c.6941A>T (p.Tyr2314Phe) c.6938A>T (p.Tyr2313Phe) c.6890A>T (p.Tyr2297Phe) c.6854A>T (p.Tyr2285Phe) c.6851A>T (p.Tyr2284Phe) c.6806A>T (p.Tyr2269Phe) n.7471A>T | |
X | g.77520816T>C | CA413707050 | ATRX | c.7172A>G (p.Tyr2391Cys) c.2270A>G (p.Tyr757Cys) c.7058A>G (p.Tyr2353Cys) c.*6800A>G (n.*6800A>G) n.5492A>G n.403A>G c.7169A>G (p.Tyr2390Cys) c.7085A>G (p.Tyr2362Cys) c.7055A>G (p.Tyr2352Cys) c.7007A>G (p.Tyr2336Cys) c.6968A>G (p.Tyr2323Cys) c.6893A>G (p.Tyr2298Cys) n.8764A>G c.7082A>G (p.Tyr2361Cys) c.7052A>G (p.Tyr2351Cys) c.7004A>G (p.Tyr2335Cys) c.6971A>G (p.Tyr2324Cys) c.6941A>G (p.Tyr2314Cys) c.6938A>G (p.Tyr2313Cys) c.6890A>G (p.Tyr2297Cys) c.6854A>G (p.Tyr2285Cys) c.6851A>G (p.Tyr2284Cys) c.6806A>G (p.Tyr2269Cys) n.7471A>G | |
X | g.77520816T>G | CA413707052 | ATRX | c.7172A>C (p.Tyr2391Ser) c.2270A>C (p.Tyr757Ser) c.7058A>C (p.Tyr2353Ser) c.*6800A>C (n.*6800A>C) n.5492A>C n.403A>C c.7169A>C (p.Tyr2390Ser) c.7085A>C (p.Tyr2362Ser) c.7055A>C (p.Tyr2352Ser) c.7007A>C (p.Tyr2336Ser) c.6968A>C (p.Tyr2323Ser) c.6893A>C (p.Tyr2298Ser) n.8764A>C c.7082A>C (p.Tyr2361Ser) c.7052A>C (p.Tyr2351Ser) c.7004A>C (p.Tyr2335Ser) c.6971A>C (p.Tyr2324Ser) c.6941A>C (p.Tyr2314Ser) c.6938A>C (p.Tyr2313Ser) c.6890A>C (p.Tyr2297Ser) c.6854A>C (p.Tyr2285Ser) c.6851A>C (p.Tyr2284Ser) c.6806A>C (p.Tyr2269Ser) n.7471A>C | |
X | g.77520817A>C | CA413707054 | ATRX | c.7171T>G (p.Tyr2391Asp) c.2269T>G (p.Tyr757Asp) c.7057T>G (p.Tyr2353Asp) c.*6799T>G (n.*6799T>G) n.5491T>G n.402T>G c.7168T>G (p.Tyr2390Asp) c.7084T>G (p.Tyr2362Asp) c.7054T>G (p.Tyr2352Asp) c.7006T>G (p.Tyr2336Asp) c.6967T>G (p.Tyr2323Asp) c.6892T>G (p.Tyr2298Asp) n.8763T>G c.7081T>G (p.Tyr2361Asp) c.7051T>G (p.Tyr2351Asp) c.7003T>G (p.Tyr2335Asp) c.6970T>G (p.Tyr2324Asp) c.6940T>G (p.Tyr2314Asp) c.6937T>G (p.Tyr2313Asp) c.6889T>G (p.Tyr2297Asp) c.6853T>G (p.Tyr2285Asp) c.6850T>G (p.Tyr2284Asp) c.6805T>G (p.Tyr2269Asp) n.7470T>G | |
X | g.77520817A>G | CA413707055 | ATRX | c.7171T>C (p.Tyr2391His) c.2269T>C (p.Tyr757His) c.7057T>C (p.Tyr2353His) c.*6799T>C (n.*6799T>C) n.5491T>C n.402T>C c.7168T>C (p.Tyr2390His) c.7084T>C (p.Tyr2362His) c.7054T>C (p.Tyr2352His) c.7006T>C (p.Tyr2336His) c.6967T>C (p.Tyr2323His) c.6892T>C (p.Tyr2298His) n.8763T>C c.7081T>C (p.Tyr2361His) c.7051T>C (p.Tyr2351His) c.7003T>C (p.Tyr2335His) c.6970T>C (p.Tyr2324His) c.6940T>C (p.Tyr2314His) c.6937T>C (p.Tyr2313His) c.6889T>C (p.Tyr2297His) c.6853T>C (p.Tyr2285His) c.6850T>C (p.Tyr2284His) c.6805T>C (p.Tyr2269His) n.7470T>C | |
X | g.77520817A>T | CA413707058 | ATRX | c.7171T>A (p.Tyr2391Asn) c.2269T>A (p.Tyr757Asn) c.7057T>A (p.Tyr2353Asn) c.*6799T>A (n.*6799T>A) n.5491T>A n.402T>A c.7168T>A (p.Tyr2390Asn) c.7084T>A (p.Tyr2362Asn) c.7054T>A (p.Tyr2352Asn) c.7006T>A (p.Tyr2336Asn) c.6967T>A (p.Tyr2323Asn) c.6892T>A (p.Tyr2298Asn) n.8763T>A c.7081T>A (p.Tyr2361Asn) c.7051T>A (p.Tyr2351Asn) c.7003T>A (p.Tyr2335Asn) c.6970T>A (p.Tyr2324Asn) c.6940T>A (p.Tyr2314Asn) c.6937T>A (p.Tyr2313Asn) c.6889T>A (p.Tyr2297Asn) c.6853T>A (p.Tyr2285Asn) c.6850T>A (p.Tyr2284Asn) c.6805T>A (p.Tyr2269Asn) n.7470T>A | |
X | g.77520818G>A | CA517374376 | ATRX | c.7170C>T (p.Ile2390=) c.2268C>T (p.Ile756=) c.7056C>T (p.Ile2352=) c.*6798C>T (n.*6798C>T) n.5490C>T n.401C>T c.7167C>T (p.Ile2389=) c.7083C>T (p.Ile2361=) c.7053C>T (p.Ile2351=) c.7005C>T (p.Ile2335=) c.6966C>T (p.Ile2322=) c.6891C>T (p.Ile2297=) n.8762C>T c.7080C>T (p.Ile2360=) c.7050C>T (p.Ile2350=) c.7002C>T (p.Ile2334=) c.6969C>T (p.Ile2323=) c.6939C>T (p.Ile2313=) c.6936C>T (p.Ile2312=) c.6888C>T (p.Ile2296=) c.6852C>T (p.Ile2284=) c.6849C>T (p.Ile2283=) c.6804C>T (p.Ile2268=) n.7469C>T | |
X | g.77520818G>C | CA413707059 | ATRX | c.7170C>G (p.Ile2390Met) c.2268C>G (p.Ile756Met) c.7056C>G (p.Ile2352Met) c.*6798C>G (n.*6798C>G) n.5490C>G n.401C>G c.7167C>G (p.Ile2389Met) c.7083C>G (p.Ile2361Met) c.7053C>G (p.Ile2351Met) c.7005C>G (p.Ile2335Met) c.6966C>G (p.Ile2322Met) c.6891C>G (p.Ile2297Met) n.8762C>G c.7080C>G (p.Ile2360Met) c.7050C>G (p.Ile2350Met) c.7002C>G (p.Ile2334Met) c.6969C>G (p.Ile2323Met) c.6939C>G (p.Ile2313Met) c.6936C>G (p.Ile2312Met) c.6888C>G (p.Ile2296Met) c.6852C>G (p.Ile2284Met) c.6849C>G (p.Ile2283Met) c.6804C>G (p.Ile2268Met) n.7469C>G | COSMIC COSMIC |
X | g.77520818G>T | CA517374377 | ATRX | c.7170C>A (p.Ile2390=) c.2268C>A (p.Ile756=) c.7056C>A (p.Ile2352=) c.*6798C>A (n.*6798C>A) n.5490C>A n.401C>A c.7167C>A (p.Ile2389=) c.7083C>A (p.Ile2361=) c.7053C>A (p.Ile2351=) c.7005C>A (p.Ile2335=) c.6966C>A (p.Ile2322=) c.6891C>A (p.Ile2297=) n.8762C>A c.7080C>A (p.Ile2360=) c.7050C>A (p.Ile2350=) c.7002C>A (p.Ile2334=) c.6969C>A (p.Ile2323=) c.6939C>A (p.Ile2313=) c.6936C>A (p.Ile2312=) c.6888C>A (p.Ile2296=) c.6852C>A (p.Ile2284=) c.6849C>A (p.Ile2283=) c.6804C>A (p.Ile2268=) n.7469C>A | |
X | g.77520819A>C | CA413707061 | ATRX | c.7169T>G (p.Ile2390Ser) c.2267T>G (p.Ile756Ser) c.7055T>G (p.Ile2352Ser) c.*6797T>G (n.*6797T>G) n.5489T>G n.400T>G c.7166T>G (p.Ile2389Ser) c.7082T>G (p.Ile2361Ser) c.7052T>G (p.Ile2351Ser) c.7004T>G (p.Ile2335Ser) c.6965T>G (p.Ile2322Ser) c.6890T>G (p.Ile2297Ser) n.8761T>G c.7079T>G (p.Ile2360Ser) c.7049T>G (p.Ile2350Ser) c.7001T>G (p.Ile2334Ser) c.6968T>G (p.Ile2323Ser) c.6938T>G (p.Ile2313Ser) c.6935T>G (p.Ile2312Ser) c.6887T>G (p.Ile2296Ser) c.6851T>G (p.Ile2284Ser) c.6848T>G (p.Ile2283Ser) c.6803T>G (p.Ile2268Ser) n.7468T>G | |
X | g.77520819A>G | CA413707064 | ATRX | c.7169T>C (p.Ile2390Thr) c.2267T>C (p.Ile756Thr) c.7055T>C (p.Ile2352Thr) c.*6797T>C (n.*6797T>C) n.5489T>C n.400T>C c.7166T>C (p.Ile2389Thr) c.7082T>C (p.Ile2361Thr) c.7052T>C (p.Ile2351Thr) c.7004T>C (p.Ile2335Thr) c.6965T>C (p.Ile2322Thr) c.6890T>C (p.Ile2297Thr) n.8761T>C c.7079T>C (p.Ile2360Thr) c.7049T>C (p.Ile2350Thr) c.7001T>C (p.Ile2334Thr) c.6968T>C (p.Ile2323Thr) c.6938T>C (p.Ile2313Thr) c.6935T>C (p.Ile2312Thr) c.6887T>C (p.Ile2296Thr) c.6851T>C (p.Ile2284Thr) c.6848T>C (p.Ile2283Thr) c.6803T>C (p.Ile2268Thr) n.7468T>C | |
X | g.77520819A>T | CA413707063 | ATRX | c.7169T>A (p.Ile2390Asn) c.2267T>A (p.Ile756Asn) c.7055T>A (p.Ile2352Asn) c.*6797T>A (n.*6797T>A) n.5489T>A n.400T>A c.7166T>A (p.Ile2389Asn) c.7082T>A (p.Ile2361Asn) c.7052T>A (p.Ile2351Asn) c.7004T>A (p.Ile2335Asn) c.6965T>A (p.Ile2322Asn) c.6890T>A (p.Ile2297Asn) n.8761T>A c.7079T>A (p.Ile2360Asn) c.7049T>A (p.Ile2350Asn) c.7001T>A (p.Ile2334Asn) c.6968T>A (p.Ile2323Asn) c.6938T>A (p.Ile2313Asn) c.6935T>A (p.Ile2312Asn) c.6887T>A (p.Ile2296Asn) c.6851T>A (p.Ile2284Asn) c.6848T>A (p.Ile2283Asn) c.6803T>A (p.Ile2268Asn) n.7468T>A | |
X | g.77520820T>A | CA413707066 | ATRX | c.7168A>T (p.Ile2390Phe) c.2266A>T (p.Ile756Phe) c.7054A>T (p.Ile2352Phe) c.*6796A>T (n.*6796A>T) n.5488A>T n.399A>T c.7165A>T (p.Ile2389Phe) c.7081A>T (p.Ile2361Phe) c.7051A>T (p.Ile2351Phe) c.7003A>T (p.Ile2335Phe) c.6964A>T (p.Ile2322Phe) c.6889A>T (p.Ile2297Phe) n.8760A>T c.7078A>T (p.Ile2360Phe) c.7048A>T (p.Ile2350Phe) c.7000A>T (p.Ile2334Phe) c.6967A>T (p.Ile2323Phe) c.6937A>T (p.Ile2313Phe) c.6934A>T (p.Ile2312Phe) c.6886A>T (p.Ile2296Phe) c.6850A>T (p.Ile2284Phe) c.6847A>T (p.Ile2283Phe) c.6802A>T (p.Ile2268Phe) n.7467A>T | |
X | g.77520820T>C | CA331560699 | ATRX | c.7168A>G (p.Ile2390Val) c.2266A>G (p.Ile756Val) c.7054A>G (p.Ile2352Val) c.*6796A>G (n.*6796A>G) n.5488A>G n.399A>G c.7165A>G (p.Ile2389Val) c.7081A>G (p.Ile2361Val) c.7051A>G (p.Ile2351Val) c.7003A>G (p.Ile2335Val) c.6964A>G (p.Ile2322Val) c.6889A>G (p.Ile2297Val) n.8760A>G c.7078A>G (p.Ile2360Val) c.7048A>G (p.Ile2350Val) c.7000A>G (p.Ile2334Val) c.6967A>G (p.Ile2323Val) c.6937A>G (p.Ile2313Val) c.6934A>G (p.Ile2312Val) c.6886A>G (p.Ile2296Val) c.6850A>G (p.Ile2284Val) c.6847A>G (p.Ile2283Val) c.6802A>G (p.Ile2268Val) n.7467A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.77520820T>G | CA413707067 | ATRX | c.7168A>C (p.Ile2390Leu) c.2266A>C (p.Ile756Leu) c.7054A>C (p.Ile2352Leu) c.*6796A>C (n.*6796A>C) n.5488A>C n.399A>C c.7165A>C (p.Ile2389Leu) c.7081A>C (p.Ile2361Leu) c.7051A>C (p.Ile2351Leu) c.7003A>C (p.Ile2335Leu) c.6964A>C (p.Ile2322Leu) c.6889A>C (p.Ile2297Leu) n.8760A>C c.7078A>C (p.Ile2360Leu) c.7048A>C (p.Ile2350Leu) c.7000A>C (p.Ile2334Leu) c.6967A>C (p.Ile2323Leu) c.6937A>C (p.Ile2313Leu) c.6934A>C (p.Ile2312Leu) c.6886A>C (p.Ile2296Leu) c.6850A>C (p.Ile2284Leu) c.6847A>C (p.Ile2283Leu) c.6802A>C (p.Ile2268Leu) n.7467A>C | |
X | g.77520820T= | CA2438933058 | ATRX | c.7168A= (p.Ile2390=) c.2266A= (p.Ile756=) c.7054A= (p.Ile2352=) c.*6796A= (n.*6796A=) n.5488A= n.399A= c.7165A= (p.Ile2389=) c.7081A= (p.Ile2361=) c.7051A= (p.Ile2351=) c.7003A= (p.Ile2335=) c.6964A= (p.Ile2322=) c.6889A= (p.Ile2297=) n.8760A= c.7078A= (p.Ile2360=) c.7048A= (p.Ile2350=) c.7000A= (p.Ile2334=) c.6967A= (p.Ile2323=) c.6937A= (p.Ile2313=) c.6934A= (p.Ile2312=) c.6886A= (p.Ile2296=) c.6850A= (p.Ile2284=) c.6847A= (p.Ile2283=) c.6802A= (p.Ile2268=) n.7467A= | |
X | g.77520821T>A | CA517374378 | ATRX | c.7167A>T (p.Ala2389=) c.2265A>T (p.Ala755=) c.7053A>T (p.Ala2351=) c.*6795A>T (n.*6795A>T) n.5487A>T n.398A>T c.7164A>T (p.Ala2388=) c.7080A>T (p.Ala2360=) c.7050A>T (p.Ala2350=) c.7002A>T (p.Ala2334=) c.6963A>T (p.Ala2321=) c.6888A>T (p.Ala2296=) n.8759A>T c.7077A>T (p.Ala2359=) c.7047A>T (p.Ala2349=) c.6999A>T (p.Ala2333=) c.6966A>T (p.Ala2322=) c.6936A>T (p.Ala2312=) c.6933A>T (p.Ala2311=) c.6885A>T (p.Ala2295=) c.6849A>T (p.Ala2283=) c.6846A>T (p.Ala2282=) c.6801A>T (p.Ala2267=) n.7466A>T | |
X | g.77520821T>C | CA517374379 | ATRX | c.7167A>G (p.Ala2389=) c.2265A>G (p.Ala755=) c.7053A>G (p.Ala2351=) c.*6795A>G (n.*6795A>G) n.5487A>G n.398A>G c.7164A>G (p.Ala2388=) c.7080A>G (p.Ala2360=) c.7050A>G (p.Ala2350=) c.7002A>G (p.Ala2334=) c.6963A>G (p.Ala2321=) c.6888A>G (p.Ala2296=) n.8759A>G c.7077A>G (p.Ala2359=) c.7047A>G (p.Ala2349=) c.6999A>G (p.Ala2333=) c.6966A>G (p.Ala2322=) c.6936A>G (p.Ala2312=) c.6933A>G (p.Ala2311=) c.6885A>G (p.Ala2295=) c.6849A>G (p.Ala2283=) c.6846A>G (p.Ala2282=) c.6801A>G (p.Ala2267=) n.7466A>G | |
X | g.77520821T>G | CA517374380 | ATRX | c.7167A>C (p.Ala2389=) c.2265A>C (p.Ala755=) c.7053A>C (p.Ala2351=) c.*6795A>C (n.*6795A>C) n.5487A>C n.398A>C c.7164A>C (p.Ala2388=) c.7080A>C (p.Ala2360=) c.7050A>C (p.Ala2350=) c.7002A>C (p.Ala2334=) c.6963A>C (p.Ala2321=) c.6888A>C (p.Ala2296=) n.8759A>C c.7077A>C (p.Ala2359=) c.7047A>C (p.Ala2349=) c.6999A>C (p.Ala2333=) c.6966A>C (p.Ala2322=) c.6936A>C (p.Ala2312=) c.6933A>C (p.Ala2311=) c.6885A>C (p.Ala2295=) c.6849A>C (p.Ala2283=) c.6846A>C (p.Ala2282=) c.6801A>C (p.Ala2267=) n.7466A>C | |
X | g.77520822G>A | CA413707070 | ATRX | c.7166C>T (p.Ala2389Val) c.2264C>T (p.Ala755Val) c.7052C>T (p.Ala2351Val) c.*6794C>T (n.*6794C>T) n.5486C>T n.397C>T c.7163C>T (p.Ala2388Val) c.7079C>T (p.Ala2360Val) c.7049C>T (p.Ala2350Val) c.7001C>T (p.Ala2334Val) c.6962C>T (p.Ala2321Val) c.6887C>T (p.Ala2296Val) n.8758C>T c.7076C>T (p.Ala2359Val) c.7046C>T (p.Ala2349Val) c.6998C>T (p.Ala2333Val) c.6965C>T (p.Ala2322Val) c.6935C>T (p.Ala2312Val) c.6932C>T (p.Ala2311Val) c.6884C>T (p.Ala2295Val) c.6848C>T (p.Ala2283Val) c.6845C>T (p.Ala2282Val) c.6800C>T (p.Ala2267Val) n.7465C>T | ClinVar dbSNP gnomAD v4 |
X | g.77520822G>C | CA413707072 | ATRX | c.7166C>G (p.Ala2389Gly) c.2264C>G (p.Ala755Gly) c.7052C>G (p.Ala2351Gly) c.*6794C>G (n.*6794C>G) n.5486C>G n.397C>G c.7163C>G (p.Ala2388Gly) c.7079C>G (p.Ala2360Gly) c.7049C>G (p.Ala2350Gly) c.7001C>G (p.Ala2334Gly) c.6962C>G (p.Ala2321Gly) c.6887C>G (p.Ala2296Gly) n.8758C>G c.7076C>G (p.Ala2359Gly) c.7046C>G (p.Ala2349Gly) c.6998C>G (p.Ala2333Gly) c.6965C>G (p.Ala2322Gly) c.6935C>G (p.Ala2312Gly) c.6932C>G (p.Ala2311Gly) c.6884C>G (p.Ala2295Gly) c.6848C>G (p.Ala2283Gly) c.6845C>G (p.Ala2282Gly) c.6800C>G (p.Ala2267Gly) n.7465C>G | |
X | g.77520822G= | CA2438933059 | ATRX | c.7166C= (p.Ala2389=) c.2264C= (p.Ala755=) c.7052C= (p.Ala2351=) c.*6794C= (n.*6794C=) n.5486C= n.397C= c.7163C= (p.Ala2388=) c.7079C= (p.Ala2360=) c.7049C= (p.Ala2350=) c.7001C= (p.Ala2334=) c.6962C= (p.Ala2321=) c.6887C= (p.Ala2296=) n.8758C= c.7076C= (p.Ala2359=) c.7046C= (p.Ala2349=) c.6998C= (p.Ala2333=) c.6965C= (p.Ala2322=) c.6935C= (p.Ala2312=) c.6932C= (p.Ala2311=) c.6884C= (p.Ala2295=) c.6848C= (p.Ala2283=) c.6845C= (p.Ala2282=) c.6800C= (p.Ala2267=) n.7465C= | |
X | g.77520822G>T | CA413707071 | ATRX | c.7166C>A (p.Ala2389Glu) c.2264C>A (p.Ala755Glu) c.7052C>A (p.Ala2351Glu) c.*6794C>A (n.*6794C>A) n.5486C>A n.397C>A c.7163C>A (p.Ala2388Glu) c.7079C>A (p.Ala2360Glu) c.7049C>A (p.Ala2350Glu) c.7001C>A (p.Ala2334Glu) c.6962C>A (p.Ala2321Glu) c.6887C>A (p.Ala2296Glu) n.8758C>A c.7076C>A (p.Ala2359Glu) c.7046C>A (p.Ala2349Glu) c.6998C>A (p.Ala2333Glu) c.6965C>A (p.Ala2322Glu) c.6935C>A (p.Ala2312Glu) c.6932C>A (p.Ala2311Glu) c.6884C>A (p.Ala2295Glu) c.6848C>A (p.Ala2283Glu) c.6845C>A (p.Ala2282Glu) c.6800C>A (p.Ala2267Glu) n.7465C>A | |
X | g.77520823C>A | CA413707074 | ATRX | c.7165G>T (p.Ala2389Ser) c.2263G>T (p.Ala755Ser) c.7051G>T (p.Ala2351Ser) c.*6793G>T (n.*6793G>T) n.5485G>T n.396G>T c.7162G>T (p.Ala2388Ser) c.7078G>T (p.Ala2360Ser) c.7048G>T (p.Ala2350Ser) c.7000G>T (p.Ala2334Ser) c.6961G>T (p.Ala2321Ser) c.6886G>T (p.Ala2296Ser) n.8757G>T c.7075G>T (p.Ala2359Ser) c.7045G>T (p.Ala2349Ser) c.6997G>T (p.Ala2333Ser) c.6964G>T (p.Ala2322Ser) c.6934G>T (p.Ala2312Ser) c.6931G>T (p.Ala2311Ser) c.6883G>T (p.Ala2295Ser) c.6847G>T (p.Ala2283Ser) c.6844G>T (p.Ala2282Ser) c.6799G>T (p.Ala2267Ser) n.7464G>T | |
X | g.77520823C>G | CA413707077 | ATRX | c.7165G>C (p.Ala2389Pro) c.2263G>C (p.Ala755Pro) c.7051G>C (p.Ala2351Pro) c.*6793G>C (n.*6793G>C) n.5485G>C n.396G>C c.7162G>C (p.Ala2388Pro) c.7078G>C (p.Ala2360Pro) c.7048G>C (p.Ala2350Pro) c.7000G>C (p.Ala2334Pro) c.6961G>C (p.Ala2321Pro) c.6886G>C (p.Ala2296Pro) n.8757G>C c.7075G>C (p.Ala2359Pro) c.7045G>C (p.Ala2349Pro) c.6997G>C (p.Ala2333Pro) c.6964G>C (p.Ala2322Pro) c.6934G>C (p.Ala2312Pro) c.6931G>C (p.Ala2311Pro) c.6883G>C (p.Ala2295Pro) c.6847G>C (p.Ala2283Pro) c.6844G>C (p.Ala2282Pro) c.6799G>C (p.Ala2267Pro) n.7464G>C | |
X | g.77520823C>T | CA413707076 | ATRX | c.7165G>A (p.Ala2389Thr) c.2263G>A (p.Ala755Thr) c.7051G>A (p.Ala2351Thr) c.*6793G>A (n.*6793G>A) n.5485G>A n.396G>A c.7162G>A (p.Ala2388Thr) c.7078G>A (p.Ala2360Thr) c.7048G>A (p.Ala2350Thr) c.7000G>A (p.Ala2334Thr) c.6961G>A (p.Ala2321Thr) c.6886G>A (p.Ala2296Thr) n.8757G>A c.7075G>A (p.Ala2359Thr) c.7045G>A (p.Ala2349Thr) c.6997G>A (p.Ala2333Thr) c.6964G>A (p.Ala2322Thr) c.6934G>A (p.Ala2312Thr) c.6931G>A (p.Ala2311Thr) c.6883G>A (p.Ala2295Thr) c.6847G>A (p.Ala2283Thr) c.6844G>A (p.Ala2282Thr) c.6799G>A (p.Ala2267Thr) n.7464G>A | |
X | g.77520824T>A | CA413707079 | ATRX | c.7164A>T (p.Glu2388Asp) c.2262A>T (p.Glu754Asp) c.7050A>T (p.Glu2350Asp) c.*6792A>T (n.*6792A>T) n.5484A>T n.395A>T c.7161A>T (p.Glu2387Asp) c.7077A>T (p.Glu2359Asp) c.7047A>T (p.Glu2349Asp) c.6999A>T (p.Glu2333Asp) c.6960A>T (p.Glu2320Asp) c.6885A>T (p.Glu2295Asp) n.8756A>T c.7074A>T (p.Glu2358Asp) c.7044A>T (p.Glu2348Asp) c.6996A>T (p.Glu2332Asp) c.6963A>T (p.Glu2321Asp) c.6933A>T (p.Glu2311Asp) c.6930A>T (p.Glu2310Asp) c.6882A>T (p.Glu2294Asp) c.6846A>T (p.Glu2282Asp) c.6843A>T (p.Glu2281Asp) c.6798A>T (p.Glu2266Asp) n.7463A>T | |
X | g.77520824T>C | CA517374381 | ATRX | c.7164A>G (p.Glu2388=) c.2262A>G (p.Glu754=) c.7050A>G (p.Glu2350=) c.*6792A>G (n.*6792A>G) n.5484A>G n.395A>G c.7161A>G (p.Glu2387=) c.7077A>G (p.Glu2359=) c.7047A>G (p.Glu2349=) c.6999A>G (p.Glu2333=) c.6960A>G (p.Glu2320=) c.6885A>G (p.Glu2295=) n.8756A>G c.7074A>G (p.Glu2358=) c.7044A>G (p.Glu2348=) c.6996A>G (p.Glu2332=) c.6963A>G (p.Glu2321=) c.6933A>G (p.Glu2311=) c.6930A>G (p.Glu2310=) c.6882A>G (p.Glu2294=) c.6846A>G (p.Glu2282=) c.6843A>G (p.Glu2281=) c.6798A>G (p.Glu2266=) n.7463A>G | |
X | g.77520824T>G | CA413707081 | ATRX | c.7164A>C (p.Glu2388Asp) c.2262A>C (p.Glu754Asp) c.7050A>C (p.Glu2350Asp) c.*6792A>C (n.*6792A>C) n.5484A>C n.395A>C c.7161A>C (p.Glu2387Asp) c.7077A>C (p.Glu2359Asp) c.7047A>C (p.Glu2349Asp) c.6999A>C (p.Glu2333Asp) c.6960A>C (p.Glu2320Asp) c.6885A>C (p.Glu2295Asp) n.8756A>C c.7074A>C (p.Glu2358Asp) c.7044A>C (p.Glu2348Asp) c.6996A>C (p.Glu2332Asp) c.6963A>C (p.Glu2321Asp) c.6933A>C (p.Glu2311Asp) c.6930A>C (p.Glu2310Asp) c.6882A>C (p.Glu2294Asp) c.6846A>C (p.Glu2282Asp) c.6843A>C (p.Glu2281Asp) c.6798A>C (p.Glu2266Asp) n.7463A>C | |
X | g.77520825T>A | CA413707083 | ATRX | c.7163A>T (p.Glu2388Val) c.2261A>T (p.Glu754Val) c.7049A>T (p.Glu2350Val) c.*6791A>T (n.*6791A>T) n.5483A>T n.394A>T c.7160A>T (p.Glu2387Val) c.7076A>T (p.Glu2359Val) c.7046A>T (p.Glu2349Val) c.6998A>T (p.Glu2333Val) c.6959A>T (p.Glu2320Val) c.6884A>T (p.Glu2295Val) n.8755A>T c.7073A>T (p.Glu2358Val) c.7043A>T (p.Glu2348Val) c.6995A>T (p.Glu2332Val) c.6962A>T (p.Glu2321Val) c.6932A>T (p.Glu2311Val) c.6929A>T (p.Glu2310Val) c.6881A>T (p.Glu2294Val) c.6845A>T (p.Glu2282Val) c.6842A>T (p.Glu2281Val) c.6797A>T (p.Glu2266Val) n.7462A>T | |
X | g.77520825T>C | CA413707084 | ATRX | c.7163A>G (p.Glu2388Gly) c.2261A>G (p.Glu754Gly) c.7049A>G (p.Glu2350Gly) c.*6791A>G (n.*6791A>G) n.5483A>G n.394A>G c.7160A>G (p.Glu2387Gly) c.7076A>G (p.Glu2359Gly) c.7046A>G (p.Glu2349Gly) c.6998A>G (p.Glu2333Gly) c.6959A>G (p.Glu2320Gly) c.6884A>G (p.Glu2295Gly) n.8755A>G c.7073A>G (p.Glu2358Gly) c.7043A>G (p.Glu2348Gly) c.6995A>G (p.Glu2332Gly) c.6962A>G (p.Glu2321Gly) c.6932A>G (p.Glu2311Gly) c.6929A>G (p.Glu2310Gly) c.6881A>G (p.Glu2294Gly) c.6845A>G (p.Glu2282Gly) c.6842A>G (p.Glu2281Gly) c.6797A>G (p.Glu2266Gly) n.7462A>G | |
X | g.77520825T>G | CA413707086 | ATRX | c.7163A>C (p.Glu2388Ala) c.2261A>C (p.Glu754Ala) c.7049A>C (p.Glu2350Ala) c.*6791A>C (n.*6791A>C) n.5483A>C n.394A>C c.7160A>C (p.Glu2387Ala) c.7076A>C (p.Glu2359Ala) c.7046A>C (p.Glu2349Ala) c.6998A>C (p.Glu2333Ala) c.6959A>C (p.Glu2320Ala) c.6884A>C (p.Glu2295Ala) n.8755A>C c.7073A>C (p.Glu2358Ala) c.7043A>C (p.Glu2348Ala) c.6995A>C (p.Glu2332Ala) c.6962A>C (p.Glu2321Ala) c.6932A>C (p.Glu2311Ala) c.6929A>C (p.Glu2310Ala) c.6881A>C (p.Glu2294Ala) c.6845A>C (p.Glu2282Ala) c.6842A>C (p.Glu2281Ala) c.6797A>C (p.Glu2266Ala) n.7462A>C | |
X | g.77520826C>A | CA256039 | ATRX | c.7162G>T (p.Glu2388Ter) c.2260G>T (p.Glu754Ter) c.7048G>T (p.Glu2350Ter) c.*6790G>T (n.*6790G>T) n.5482G>T n.393G>T c.7159G>T (p.Glu2387Ter) c.7075G>T (p.Glu2359Ter) c.7045G>T (p.Glu2349Ter) c.6997G>T (p.Glu2333Ter) c.6958G>T (p.Glu2320Ter) c.6883G>T (p.Glu2295Ter) n.8754G>T c.7072G>T (p.Glu2358Ter) c.7042G>T (p.Glu2348Ter) c.6994G>T (p.Glu2332Ter) c.6961G>T (p.Glu2321Ter) c.6931G>T (p.Glu2311Ter) c.6928G>T (p.Glu2310Ter) c.6880G>T (p.Glu2294Ter) c.6844G>T (p.Glu2282Ter) c.6841G>T (p.Glu2281Ter) c.6796G>T (p.Glu2266Ter) n.7461G>T | ClinVar dbSNP |
X | g.77520826C= | CA2438933060 | ATRX | c.7162G= (p.Glu2388=) c.2260G= (p.Glu754=) c.7048G= (p.Glu2350=) c.*6790G= (n.*6790G=) n.5482G= n.393G= c.7159G= (p.Glu2387=) c.7075G= (p.Glu2359=) c.7045G= (p.Glu2349=) c.6997G= (p.Glu2333=) c.6958G= (p.Glu2320=) c.6883G= (p.Glu2295=) n.8754G= c.7072G= (p.Glu2358=) c.7042G= (p.Glu2348=) c.6994G= (p.Glu2332=) c.6961G= (p.Glu2321=) c.6931G= (p.Glu2311=) c.6928G= (p.Glu2310=) c.6880G= (p.Glu2294=) c.6844G= (p.Glu2282=) c.6841G= (p.Glu2281=) c.6796G= (p.Glu2266=) n.7461G= | |
X | g.77520826C>G | CA413707089 | ATRX | c.7162G>C (p.Glu2388Gln) c.2260G>C (p.Glu754Gln) c.7048G>C (p.Glu2350Gln) c.*6790G>C (n.*6790G>C) n.5482G>C n.393G>C c.7159G>C (p.Glu2387Gln) c.7075G>C (p.Glu2359Gln) c.7045G>C (p.Glu2349Gln) c.6997G>C (p.Glu2333Gln) c.6958G>C (p.Glu2320Gln) c.6883G>C (p.Glu2295Gln) n.8754G>C c.7072G>C (p.Glu2358Gln) c.7042G>C (p.Glu2348Gln) c.6994G>C (p.Glu2332Gln) c.6961G>C (p.Glu2321Gln) c.6931G>C (p.Glu2311Gln) c.6928G>C (p.Glu2310Gln) c.6880G>C (p.Glu2294Gln) c.6844G>C (p.Glu2282Gln) c.6841G>C (p.Glu2281Gln) c.6796G>C (p.Glu2266Gln) n.7461G>C | |
X | g.77520826C>T | CA413707090 | ATRX | c.7162G>A (p.Glu2388Lys) c.2260G>A (p.Glu754Lys) c.7048G>A (p.Glu2350Lys) c.*6790G>A (n.*6790G>A) n.5482G>A n.393G>A c.7159G>A (p.Glu2387Lys) c.7075G>A (p.Glu2359Lys) c.7045G>A (p.Glu2349Lys) c.6997G>A (p.Glu2333Lys) c.6958G>A (p.Glu2320Lys) c.6883G>A (p.Glu2295Lys) n.8754G>A c.7072G>A (p.Glu2358Lys) c.7042G>A (p.Glu2348Lys) c.6994G>A (p.Glu2332Lys) c.6961G>A (p.Glu2321Lys) c.6931G>A (p.Glu2311Lys) c.6928G>A (p.Glu2310Lys) c.6880G>A (p.Glu2294Lys) c.6844G>A (p.Glu2282Lys) c.6841G>A (p.Glu2281Lys) c.6796G>A (p.Glu2266Lys) n.7461G>A | |
X | g.77520827T>A | CA413707091 | ATRX | c.7161A>T (p.Arg2387Ser) c.2259A>T (p.Arg753Ser) c.7047A>T (p.Arg2349Ser) c.*6789A>T (n.*6789A>T) n.5481A>T n.392A>T c.7158A>T (p.Arg2386Ser) c.7074A>T (p.Arg2358Ser) c.7044A>T (p.Arg2348Ser) c.6996A>T (p.Arg2332Ser) c.6957A>T (p.Arg2319Ser) c.6882A>T (p.Arg2294Ser) n.8753A>T c.7071A>T (p.Arg2357Ser) c.7041A>T (p.Arg2347Ser) c.6993A>T (p.Arg2331Ser) c.6960A>T (p.Arg2320Ser) c.6930A>T (p.Arg2310Ser) c.6927A>T (p.Arg2309Ser) c.6879A>T (p.Arg2293Ser) c.6843A>T (p.Arg2281Ser) c.6840A>T (p.Arg2280Ser) c.6795A>T (p.Arg2265Ser) n.7460A>T | |
X | g.77520827T>C | CA517374382 | ATRX | c.7161A>G (p.Arg2387=) c.2259A>G (p.Arg753=) c.7047A>G (p.Arg2349=) c.*6789A>G (n.*6789A>G) n.5481A>G n.392A>G c.7158A>G (p.Arg2386=) c.7074A>G (p.Arg2358=) c.7044A>G (p.Arg2348=) c.6996A>G (p.Arg2332=) c.6957A>G (p.Arg2319=) c.6882A>G (p.Arg2294=) n.8753A>G c.7071A>G (p.Arg2357=) c.7041A>G (p.Arg2347=) c.6993A>G (p.Arg2331=) c.6960A>G (p.Arg2320=) c.6930A>G (p.Arg2310=) c.6927A>G (p.Arg2309=) c.6879A>G (p.Arg2293=) c.6843A>G (p.Arg2281=) c.6840A>G (p.Arg2280=) c.6795A>G (p.Arg2265=) n.7460A>G | |
X | g.77520827T>G | CA413707092 | ATRX | c.7161A>C (p.Arg2387Ser) c.2259A>C (p.Arg753Ser) c.7047A>C (p.Arg2349Ser) c.*6789A>C (n.*6789A>C) n.5481A>C n.392A>C c.7158A>C (p.Arg2386Ser) c.7074A>C (p.Arg2358Ser) c.7044A>C (p.Arg2348Ser) c.6996A>C (p.Arg2332Ser) c.6957A>C (p.Arg2319Ser) c.6882A>C (p.Arg2294Ser) n.8753A>C c.7071A>C (p.Arg2357Ser) c.7041A>C (p.Arg2347Ser) c.6993A>C (p.Arg2331Ser) c.6960A>C (p.Arg2320Ser) c.6930A>C (p.Arg2310Ser) c.6927A>C (p.Arg2309Ser) c.6879A>C (p.Arg2293Ser) c.6843A>C (p.Arg2281Ser) c.6840A>C (p.Arg2280Ser) c.6795A>C (p.Arg2265Ser) n.7460A>C | |
X | g.77520828C>A | CA413707094 | ATRX | c.7160G>T (p.Arg2387Ile) c.2258G>T (p.Arg753Ile) c.7046G>T (p.Arg2349Ile) c.*6788G>T (n.*6788G>T) n.5480G>T n.391G>T c.7157G>T (p.Arg2386Ile) c.7073G>T (p.Arg2358Ile) c.7043G>T (p.Arg2348Ile) c.6995G>T (p.Arg2332Ile) c.6956G>T (p.Arg2319Ile) c.6881G>T (p.Arg2294Ile) n.8752G>T c.7070G>T (p.Arg2357Ile) c.7040G>T (p.Arg2347Ile) c.6992G>T (p.Arg2331Ile) c.6959G>T (p.Arg2320Ile) c.6929G>T (p.Arg2310Ile) c.6926G>T (p.Arg2309Ile) c.6878G>T (p.Arg2293Ile) c.6842G>T (p.Arg2281Ile) c.6839G>T (p.Arg2280Ile) c.6794G>T (p.Arg2265Ile) n.7459G>T | |
X | g.77520828C>G | CA413707096 | ATRX | c.7160G>C (p.Arg2387Thr) c.2258G>C (p.Arg753Thr) c.7046G>C (p.Arg2349Thr) c.*6788G>C (n.*6788G>C) n.5480G>C n.391G>C c.7157G>C (p.Arg2386Thr) c.7073G>C (p.Arg2358Thr) c.7043G>C (p.Arg2348Thr) c.6995G>C (p.Arg2332Thr) c.6956G>C (p.Arg2319Thr) c.6881G>C (p.Arg2294Thr) n.8752G>C c.7070G>C (p.Arg2357Thr) c.7040G>C (p.Arg2347Thr) c.6992G>C (p.Arg2331Thr) c.6959G>C (p.Arg2320Thr) c.6929G>C (p.Arg2310Thr) c.6926G>C (p.Arg2309Thr) c.6878G>C (p.Arg2293Thr) c.6842G>C (p.Arg2281Thr) c.6839G>C (p.Arg2280Thr) c.6794G>C (p.Arg2265Thr) n.7459G>C | |
X | g.77520828C>T | CA413707098 | ATRX | c.7160G>A (p.Arg2387Lys) c.2258G>A (p.Arg753Lys) c.7046G>A (p.Arg2349Lys) c.*6788G>A (n.*6788G>A) n.5480G>A n.391G>A c.7157G>A (p.Arg2386Lys) c.7073G>A (p.Arg2358Lys) c.7043G>A (p.Arg2348Lys) c.6995G>A (p.Arg2332Lys) c.6956G>A (p.Arg2319Lys) c.6881G>A (p.Arg2294Lys) n.8752G>A c.7070G>A (p.Arg2357Lys) c.7040G>A (p.Arg2347Lys) c.6992G>A (p.Arg2331Lys) c.6959G>A (p.Arg2320Lys) c.6929G>A (p.Arg2310Lys) c.6926G>A (p.Arg2309Lys) c.6878G>A (p.Arg2293Lys) c.6842G>A (p.Arg2281Lys) c.6839G>A (p.Arg2280Lys) c.6794G>A (p.Arg2265Lys) n.7459G>A | |
X | g.77520829T>A | CA413707100 | ATRX | c.7159A>T (p.Arg2387Ter) c.2257A>T (p.Arg753Ter) c.7045A>T (p.Arg2349Ter) c.*6787A>T (n.*6787A>T) n.5479A>T n.390A>T c.7156A>T (p.Arg2386Ter) c.7072A>T (p.Arg2358Ter) c.7042A>T (p.Arg2348Ter) c.6994A>T (p.Arg2332Ter) c.6955A>T (p.Arg2319Ter) c.6880A>T (p.Arg2294Ter) n.8751A>T c.7069A>T (p.Arg2357Ter) c.7039A>T (p.Arg2347Ter) c.6991A>T (p.Arg2331Ter) c.6958A>T (p.Arg2320Ter) c.6928A>T (p.Arg2310Ter) c.6925A>T (p.Arg2309Ter) c.6877A>T (p.Arg2293Ter) c.6841A>T (p.Arg2281Ter) c.6838A>T (p.Arg2280Ter) c.6793A>T (p.Arg2265Ter) n.7458A>T | |
X | g.77520829T>C | CA413707102 | ATRX | c.7159A>G (p.Arg2387Gly) c.2257A>G (p.Arg753Gly) c.7045A>G (p.Arg2349Gly) c.*6787A>G (n.*6787A>G) n.5479A>G n.390A>G c.7156A>G (p.Arg2386Gly) c.7072A>G (p.Arg2358Gly) c.7042A>G (p.Arg2348Gly) c.6994A>G (p.Arg2332Gly) c.6955A>G (p.Arg2319Gly) c.6880A>G (p.Arg2294Gly) n.8751A>G c.7069A>G (p.Arg2357Gly) c.7039A>G (p.Arg2347Gly) c.6991A>G (p.Arg2331Gly) c.6958A>G (p.Arg2320Gly) c.6928A>G (p.Arg2310Gly) c.6925A>G (p.Arg2309Gly) c.6877A>G (p.Arg2293Gly) c.6841A>G (p.Arg2281Gly) c.6838A>G (p.Arg2280Gly) c.6793A>G (p.Arg2265Gly) n.7458A>G | |
X | g.77520829T>G | CA517374383 | ATRX | c.7159A>C (p.Arg2387=) c.2257A>C (p.Arg753=) c.7045A>C (p.Arg2349=) c.*6787A>C (n.*6787A>C) n.5479A>C n.390A>C c.7156A>C (p.Arg2386=) c.7072A>C (p.Arg2358=) c.7042A>C (p.Arg2348=) c.6994A>C (p.Arg2332=) c.6955A>C (p.Arg2319=) c.6880A>C (p.Arg2294=) n.8751A>C c.7069A>C (p.Arg2357=) c.7039A>C (p.Arg2347=) c.6991A>C (p.Arg2331=) c.6958A>C (p.Arg2320=) c.6928A>C (p.Arg2310=) c.6925A>C (p.Arg2309=) c.6877A>C (p.Arg2293=) c.6841A>C (p.Arg2281=) c.6838A>C (p.Arg2280=) c.6793A>C (p.Arg2265=) n.7458A>C |