Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.77520742G>TCA2694139288ATRXc.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
Xg.77520742_77520743insTCA2579648663ATRXc.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
Xg.77520743A>TCA2579648664ATRXc.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
Xg.77520747T>CCA10457410ATRXc.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
Xg.77520747T>GCA2579648665ATRXc.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
Xg.77520747T=CA2438933041ATRXc.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=
Xg.77520748T>GCA642690017ATRXc.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
Xg.77520748T=CA2438933042ATRXc.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=
Xg.77520752C>ACA2694139294ATRXc.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
Xg.77520753delCA2694139296ATRXc.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
Xg.77520753A=CA2438933043ATRXc.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=
Xg.77520753A>CCA10457411ATRXc.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
Xg.77520753A>GCA642690018ATRXc.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
Xg.77520754T>CCA10457412ATRXc.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
Xg.77520754T=CA2438933044ATRXc.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=
Xg.77520755A>GCA658110162ATRXc.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
Xg.77520757C>ACA10457413ATRXc.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
Xg.77520757C=CA2438933045ATRXc.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=
Xg.77520760dupCA2694139303ATRXc.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
Xg.77520761G>ACA2694139307ATRXc.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
Xg.77520761G>CCA10457414ATRXc.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
Xg.77520761G=CA2438933046ATRXc.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=
Xg.77520763A>GCA2499500456ATRXc.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
Xg.77520764A=CA2438933047ATRXc.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=
Xg.77520764A>CCA10457415ATRXc.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
Xg.77520765_77520769delinsTAGTCCA2438933048ATRXc.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
Xg.77520768_77520771delCA10457416ATRXc.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
Xg.77520767G>TCA2694139332ATRXc.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
Xg.77520770dupCA2694139333ATRXc.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
Xg.77520770_77520772delCA2514490153ATRXc.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
Xg.77520773C=CA2438933049ATRXc.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=
Xg.77520773C>TCA10457417ATRXc.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
Xg.77520774G>ACA1134467930ATRXc.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
Xg.77520774G>CCA2738571335ATRXc.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
Xg.77520774G=CA2438933050ATRXc.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=
Xg.77520774G>TCA2579648666ATRXc.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
Xg.77520775_77520778delCA2537386148ATRXc.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
Xg.77520776C>ACA2738721870ATRXc.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
Xg.77520776C>GCA2738721977ATRXc.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
Xg.77520776C>TCA2738721978ATRXc.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
Xg.77520778G>CCA10457419ATRXc.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
Xg.77520778G=CA2438933052ATRXc.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=
Xg.77520778G>TCA2573159519ATRXc.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
Xg.77520778_77520779delinsGACA2438933051ATRXc.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
Xg.77520780delCA10457418ATRXc.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
Xg.77520783C>ACA2738721979ATRXc.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
Xg.77520784T>CCA2497030176ATRXc.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
Xg.77520786A>CCA413706890ATRXc.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
Xg.77520786A>GCA413706887ATRXc.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
Xg.77520786A>TCA413706886ATRXc.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
Xg.77520787C>ACA413706892ATRXc.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
Xg.77520787C>GCA413706894ATRXc.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
Xg.77520787C>TCA413706896ATRXc.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
Xg.77520788C>ACA413706898ATRXc.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
Xg.77520788C>GCA413706900ATRXc.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
Xg.77520788C>TCA413706902ATRXc.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
Xg.77520789A>CCA413706903ATRXc.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
Xg.77520789A>GCA413706907ATRXc.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
Xg.77520789A>TCA413706905ATRXc.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
Xg.77520790T>ACA413706909ATRXc.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
Xg.77520790T>CCA413706911ATRXc.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
Xg.77520790T>GCA413706917ATRXc.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
Xg.77520791C>ACA413706918ATRXc.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
Xg.77520791C>GCA413706919ATRXc.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
Xg.77520791C>TCA517374362ATRXc.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
Xg.77520792T>ACA413706921ATRXc.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
Xg.77520792T>CCA413706924ATRXc.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
Xg.77520792T>GCA413706925ATRXc.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
Xg.77520793G>ACA413706928ATRXc.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
Xg.77520793G>CCA413706929ATRXc.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
Xg.77520793G>TCA413706931ATRXc.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
Xg.77520794T>ACA413706937ATRXc.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
Xg.77520794T>CCA517374363ATRXc.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
Xg.77520794T>GCA413706938ATRXc.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
Xg.77520795T>ACA413706941ATRXc.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
Xg.77520795T>CCA413706944ATRXc.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
Xg.77520795T>GCA413706942ATRXc.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
Xg.77520796G>ACA413706947ATRXc.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
Xg.77520796G>CCA413706948ATRXc.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
Xg.77520796G=CA2438933053ATRXc.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=
Xg.77520796G>TCA413706950ATRXc.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
Xg.77520797T>ACA413706953ATRXc.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
Xg.77520797T>CCA517374364ATRXc.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
Xg.77520797T>GCA413706954ATRXc.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
Xg.77520798T>ACA413706959ATRXc.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
Xg.77520798T>CCA413706961ATRXc.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
Xg.77520798T>GCA413706964ATRXc.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
Xg.77520799T>ACA413706966ATRXc.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
Xg.77520799T>CCA413706968ATRXc.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
Xg.77520799T>GCA413706970ATRXc.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
Xg.77520800T>ACA517374367ATRXc.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
Xg.77520800T>CCA517374368ATRXc.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
Xg.77520800T>GCA517374369ATRXc.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
Xg.77520800T=CA2438933054ATRXc.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=
Xg.77520801G>ACA413706978ATRXc.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
Xg.77520801G>CCA413706972ATRXc.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
Xg.77520801G>TCA413706976ATRXc.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
Xg.77520802T>ACA413706980ATRXc.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
Xg.77520802T>CCA413706982ATRXc.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
Xg.77520802T>GCA413706983ATRXc.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
Xg.77520803C>ACA413706984ATRXc.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
Xg.77520803C>GCA413706986ATRXc.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
Xg.77520803C>TCA517374370ATRXc.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
Xg.77520804A>CCA413706989ATRXc.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
Xg.77520804A>GCA413706990ATRXc.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
Xg.77520804A>TCA413706994ATRXc.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
Xg.77520805A=CA2438933055ATRXc.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=
Xg.77520805A>CCA413706996ATRXc.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
Xg.77520805A>GCA10457420ATRXc.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
Xg.77520805A>TCA413706999ATRXc.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
Xg.77520805_77520806insAAGGACGGTCGAAAGCAGACA2541903707ATRXc.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
Xg.77520806T>ACA517374371ATRXc.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
Xg.77520806T>CCA331560697ATRXc.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
Xg.77520806T>GCA517374372ATRXc.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
Xg.77520806T=CA2438933056ATRXc.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=
Xg.77520807A>CCA413707005ATRXc.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
Xg.77520807A>GCA413707006ATRXc.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
Xg.77520807A>TCA413707003ATRXc.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
Xg.77520807_77520808insGGAAGAACACCACAACTTCAGTGCCCA2562300966ATRXc.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
Xg.77520807_77520808insGGAAGAACACCACAACTTCAGTGCCCATACCAAAGATAAGCCAAAGGTCTGCCCCCTCAATATGAATCAACTTAAGGAGTGCTCCAAGTACAACGATAGAGGCACCCCA2544654674ATRXc.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
Xg.77520807_77520808insGGAAGAACACCACAACTTCAGTGCCCATACCAAAGATAAGCCAAAGGTCTGCCCCCTCAATATGAATCAACTTAAGGAGTGCTCCGAGTACAACGATAGAGGCACCCCA2562301985ATRXc.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
Xg.77520808C>ACA413707009ATRXc.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
Xg.77520808C>GCA413707011ATRXc.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
Xg.77520808C>TCA413707012ATRXc.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
Xg.77520809A>CCA413707013ATRXc.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
Xg.77520809A>GCA517374373ATRXc.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
Xg.77520809A>TCA413707014ATRXc.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
Xg.77520810T>ACA413707016ATRXc.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
Xg.77520810T>CCA413707018ATRXc.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
Xg.77520810T>GCA413707026ATRXc.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
Xg.77520810_77520811insACCAAAGATAAGCCAAAGGTCTGCCCCCTCAATATGAATCAACTTAAGGAGTGCTCCGAGTACAACGATAGAGGCACCCCAGCA2523330629ATRXc.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
Xg.77520811C>ACA413707028ATRXc.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
Xg.77520811C>GCA413707030ATRXc.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
Xg.77520811C>TCA413707032ATRXc.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
Xg.77520812A>CCA413707034ATRXc.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
Xg.77520812A>GCA517374374ATRXc.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
Xg.77520812A>TCA413707036ATRXc.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
Xg.77520813T>ACA413707039ATRXc.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
Xg.77520813T>CCA413707038ATRXc.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
Xg.77520813T>GCA413707037ATRXc.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
Xg.77520814T>ACA413707040ATRXc.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
Xg.77520814T>CCA413707041ATRXc.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
Xg.77520814T>GCA413707042ATRXc.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
Xg.77520815G>ACA331560698ATRXc.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
Xg.77520815G>CCA413707044ATRXc.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
Xg.77520815G=CA2438933057ATRXc.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=
Xg.77520815G>TCA413707046ATRXc.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
Xg.77520816T>ACA413707049ATRXc.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
Xg.77520816T>CCA413707050ATRXc.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
Xg.77520816T>GCA413707052ATRXc.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
Xg.77520817A>CCA413707054ATRXc.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
Xg.77520817A>GCA413707055ATRXc.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
Xg.77520817A>TCA413707058ATRXc.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
Xg.77520818G>ACA517374376ATRXc.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
Xg.77520818G>CCA413707059ATRXc.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
Xg.77520818G>TCA517374377ATRXc.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
Xg.77520819A>CCA413707061ATRXc.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
Xg.77520819A>GCA413707064ATRXc.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
Xg.77520819A>TCA413707063ATRXc.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
Xg.77520820T>ACA413707066ATRXc.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
Xg.77520820T>CCA331560699ATRXc.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
Xg.77520820T>GCA413707067ATRXc.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
Xg.77520820T=CA2438933058ATRXc.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=
Xg.77520821T>ACA517374378ATRXc.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
Xg.77520821T>CCA517374379ATRXc.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
Xg.77520821T>GCA517374380ATRXc.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
Xg.77520822G>ACA413707070ATRXc.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
Xg.77520822G>CCA413707072ATRXc.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
Xg.77520822G=CA2438933059ATRXc.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=
Xg.77520822G>TCA413707071ATRXc.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
Xg.77520823C>ACA413707074ATRXc.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
Xg.77520823C>GCA413707077ATRXc.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
Xg.77520823C>TCA413707076ATRXc.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
Xg.77520824T>ACA413707079ATRXc.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
Xg.77520824T>CCA517374381ATRXc.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
Xg.77520824T>GCA413707081ATRXc.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
Xg.77520825T>ACA413707083ATRXc.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
Xg.77520825T>CCA413707084ATRXc.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
Xg.77520825T>GCA413707086ATRXc.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
Xg.77520826C>ACA256039ATRXc.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
Xg.77520826C=CA2438933060ATRXc.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=
Xg.77520826C>GCA413707089ATRXc.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
Xg.77520826C>TCA413707090ATRXc.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
Xg.77520827T>ACA413707091ATRXc.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
Xg.77520827T>CCA517374382ATRXc.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
Xg.77520827T>GCA413707092ATRXc.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
Xg.77520828C>ACA413707094ATRXc.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
Xg.77520828C>GCA413707096ATRXc.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
Xg.77520828C>TCA413707098ATRXc.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
Xg.77520829T>ACA413707100ATRXc.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
Xg.77520829T>CCA413707102ATRXc.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
Xg.77520829T>GCA517374383ATRXc.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
Xg.77520830T>ACA517374384ATRXc.7158A>T (p.Arg2386=)
c.2256A>T (p.Arg752=)
c.7044A>T (p.Arg2348=)
c.*6786A>T (n.*6786A>T)
n.5478A>T
n.389A>T
c.7155A>T (p.Arg2385=)
c.7071A>T (p.Arg2357=)
c.7041A>T (p.Arg2347=)
c.6993A>T (p.Arg2331=)
c.6954A>T (p.Arg2318=)
c.6879A>T (p.Arg2293=)
n.8750A>T
c.7068A>T (p.Arg2356=)
c.7038A>T (p.Arg2346=)
c.6990A>T (p.Arg2330=)
c.6957A>T (p.Arg2319=)
c.6927A>T (p.Arg2309=)
c.6924A>T (p.Arg2308=)
c.6876A>T (p.Arg2292=)
c.6840A>T (p.Arg2280=)
c.6837A>T (p.Arg2279=)
c.6792A>T (p.Arg2264=)
n.7457A>T
Xg.77520830T>CCA517374385ATRXc.7158A>G (p.Arg2386=)
c.2256A>G (p.Arg752=)
c.7044A>G (p.Arg2348=)
c.*6786A>G (n.*6786A>G)
n.5478A>G
n.389A>G
c.7155A>G (p.Arg2385=)
c.7071A>G (p.Arg2357=)
c.7041A>G (p.Arg2347=)
c.6993A>G (p.Arg2331=)
c.6954A>G (p.Arg2318=)
c.6879A>G (p.Arg2293=)
n.8750A>G
c.7068A>G (p.Arg2356=)
c.7038A>G (p.Arg2346=)
c.6990A>G (p.Arg2330=)
c.6957A>G (p.Arg2319=)
c.6927A>G (p.Arg2309=)
c.6924A>G (p.Arg2308=)
c.6876A>G (p.Arg2292=)
c.6840A>G (p.Arg2280=)
c.6837A>G (p.Arg2279=)
c.6792A>G (p.Arg2264=)
n.7457A>G
 ClinVar dbSNP
Xg.77520830T>GCA517374386ATRXc.7158A>C (p.Arg2386=)
c.2256A>C (p.Arg752=)
c.7044A>C (p.Arg2348=)
c.*6786A>C (n.*6786A>C)
n.5478A>C
n.389A>C
c.7155A>C (p.Arg2385=)
c.7071A>C (p.Arg2357=)
c.7041A>C (p.Arg2347=)
c.6993A>C (p.Arg2331=)
c.6954A>C (p.Arg2318=)
c.6879A>C (p.Arg2293=)
n.8750A>C
c.7068A>C (p.Arg2356=)
c.7038A>C (p.Arg2346=)
c.6990A>C (p.Arg2330=)
c.6957A>C (p.Arg2319=)
c.6927A>C (p.Arg2309=)
c.6924A>C (p.Arg2308=)
c.6876A>C (p.Arg2292=)
c.6840A>C (p.Arg2280=)
c.6837A>C (p.Arg2279=)
c.6792A>C (p.Arg2264=)
n.7457A>C
Xg.77520830T=CA2438933061ATRXc.7158A= (p.Arg2386=)
c.2256A= (p.Arg752=)
c.7044A= (p.Arg2348=)
c.*6786A= (n.*6786A=)
n.5478A=
n.389A=
c.7155A= (p.Arg2385=)
c.7071A= (p.Arg2357=)
c.7041A= (p.Arg2347=)
c.6993A= (p.Arg2331=)
c.6954A= (p.Arg2318=)
c.6879A= (p.Arg2293=)
n.8750A=
c.7068A= (p.Arg2356=)
c.7038A= (p.Arg2346=)
c.6990A= (p.Arg2330=)
c.6957A= (p.Arg2319=)
c.6927A= (p.Arg2309=)
c.6924A= (p.Arg2308=)
c.6876A= (p.Arg2292=)
c.6840A= (p.Arg2280=)
c.6837A= (p.Arg2279=)
c.6792A= (p.Arg2264=)
n.7457A=
Xg.77520831C>ACA413707104ATRXc.7157G>T (p.Arg2386Leu)
c.2255G>T (p.Arg752Leu)
c.7043G>T (p.Arg2348Leu)
c.*6785G>T (n.*6785G>T)
n.5477G>T
n.388G>T
c.7154G>T (p.Arg2385Leu)
c.7070G>T (p.Arg2357Leu)
c.7040G>T (p.Arg2347Leu)
c.6992G>T (p.Arg2331Leu)
c.6953G>T (p.Arg2318Leu)
c.6878G>T (p.Arg2293Leu)
n.8749G>T
c.7067G>T (p.Arg2356Leu)
c.7037G>T (p.Arg2346Leu)
c.6989G>T (p.Arg2330Leu)
c.6956G>T (p.Arg2319Leu)
c.6926G>T (p.Arg2309Leu)
c.6923G>T (p.Arg2308Leu)
c.6875G>T (p.Arg2292Leu)
c.6839G>T (p.Arg2280Leu)
c.6836G>T (p.Arg2279Leu)
c.6791G>T (p.Arg2264Leu)
n.7456G>T
Xg.77520831C>GCA413707107ATRXc.7157G>C (p.Arg2386Pro)
c.2255G>C (p.Arg752Pro)
c.7043G>C (p.Arg2348Pro)
c.*6785G>C (n.*6785G>C)
n.5477G>C
n.388G>C
c.7154G>C (p.Arg2385Pro)
c.7070G>C (p.Arg2357Pro)
c.7040G>C (p.Arg2347Pro)
c.6992G>C (p.Arg2331Pro)
c.6953G>C (p.Arg2318Pro)
c.6878G>C (p.Arg2293Pro)
n.8749G>C
c.7067G>C (p.Arg2356Pro)
c.7037G>C (p.Arg2346Pro)
c.6989G>C (p.Arg2330Pro)
c.6956G>C (p.Arg2319Pro)
c.6926G>C (p.Arg2309Pro)
c.6923G>C (p.Arg2308Pro)
c.6875G>C (p.Arg2292Pro)
c.6839G>C (p.Arg2280Pro)
c.6836G>C (p.Arg2279Pro)
c.6791G>C (p.Arg2264Pro)
n.7456G>C
Xg.77520831C>TCA413707105ATRXc.7157G>A (p.Arg2386Gln)
c.2255G>A (p.Arg752Gln)
c.7043G>A (p.Arg2348Gln)
c.*6785G>A (n.*6785G>A)
n.5477G>A
n.388G>A
c.7154G>A (p.Arg2385Gln)
c.7070G>A (p.Arg2357Gln)
c.7040G>A (p.Arg2347Gln)
c.6992G>A (p.Arg2331Gln)
c.6953G>A (p.Arg2318Gln)
c.6878G>A (p.Arg2293Gln)
n.8749G>A
c.7067G>A (p.Arg2356Gln)
c.7037G>A (p.Arg2346Gln)
c.6989G>A (p.Arg2330Gln)
c.6956G>A (p.Arg2319Gln)
c.6926G>A (p.Arg2309Gln)
c.6923G>A (p.Arg2308Gln)
c.6875G>A (p.Arg2292Gln)
c.6839G>A (p.Arg2280Gln)
c.6836G>A (p.Arg2279Gln)
c.6791G>A (p.Arg2264Gln)
n.7456G>A
 ClinVar gnomAD v4
Xg.77520832G>ACA256034ATRXc.7156C>T (p.Arg2386Ter)
c.2254C>T (p.Arg752Ter)
c.7042C>T (p.Arg2348Ter)
c.*6784C>T (n.*6784C>T)
n.5476C>T
n.387C>T
c.7153C>T (p.Arg2385Ter)
c.7069C>T (p.Arg2357Ter)
c.7039C>T (p.Arg2347Ter)
c.6991C>T (p.Arg2331Ter)
c.6952C>T (p.Arg2318Ter)
c.6877C>T (p.Arg2293Ter)
n.8748C>T
c.7066C>T (p.Arg2356Ter)
c.7036C>T (p.Arg2346Ter)
c.6988C>T (p.Arg2330Ter)
c.6955C>T (p.Arg2319Ter)
c.6925C>T (p.Arg2309Ter)
c.6922C>T (p.Arg2308Ter)
c.6874C>T (p.Arg2292Ter)
c.6838C>T (p.Arg2280Ter)
c.6835C>T (p.Arg2279Ter)
c.6790C>T (p.Arg2264Ter)
n.7455C>T
 ClinVar dbSNP
Xg.77520832G>CCA413707109ATRXc.7156C>G (p.Arg2386Gly)
c.2254C>G (p.Arg752Gly)
c.7042C>G (p.Arg2348Gly)
c.*6784C>G (n.*6784C>G)
n.5476C>G
n.387C>G
c.7153C>G (p.Arg2385Gly)
c.7069C>G (p.Arg2357Gly)
c.7039C>G (p.Arg2347Gly)
c.6991C>G (p.Arg2331Gly)
c.6952C>G (p.Arg2318Gly)
c.6877C>G (p.Arg2293Gly)
n.8748C>G
c.7066C>G (p.Arg2356Gly)
c.7036C>G (p.Arg2346Gly)
c.6988C>G (p.Arg2330Gly)
c.6955C>G (p.Arg2319Gly)
c.6925C>G (p.Arg2309Gly)
c.6922C>G (p.Arg2308Gly)
c.6874C>G (p.Arg2292Gly)
c.6838C>G (p.Arg2280Gly)
c.6835C>G (p.Arg2279Gly)
c.6790C>G (p.Arg2264Gly)
n.7455C>G
Xg.77520832G=CA2438933062ATRXc.7156C= (p.Arg2386=)
c.2254C= (p.Arg752=)
c.7042C= (p.Arg2348=)
c.*6784C= (n.*6784C=)
n.5476C=
n.387C=
c.7153C= (p.Arg2385=)
c.7069C= (p.Arg2357=)
c.7039C= (p.Arg2347=)
c.6991C= (p.Arg2331=)
c.6952C= (p.Arg2318=)
c.6877C= (p.Arg2293=)
n.8748C=
c.7066C= (p.Arg2356=)
c.7036C= (p.Arg2346=)
c.6988C= (p.Arg2330=)
c.6955C= (p.Arg2319=)
c.6925C= (p.Arg2309=)
c.6922C= (p.Arg2308=)
c.6874C= (p.Arg2292=)
c.6838C= (p.Arg2280=)
c.6835C= (p.Arg2279=)
c.6790C= (p.Arg2264=)
n.7455C=
Xg.77520832G>TCA517374387ATRXc.7156C>A (p.Arg2386=)
c.2254C>A (p.Arg752=)
c.7042C>A (p.Arg2348=)
c.*6784C>A (n.*6784C>A)
n.5476C>A
n.387C>A
c.7153C>A (p.Arg2385=)
c.7069C>A (p.Arg2357=)
c.7039C>A (p.Arg2347=)
c.6991C>A (p.Arg2331=)
c.6952C>A (p.Arg2318=)
c.6877C>A (p.Arg2293=)
n.8748C>A
c.7066C>A (p.Arg2356=)
c.7036C>A (p.Arg2346=)
c.6988C>A (p.Arg2330=)
c.6955C>A (p.Arg2319=)
c.6925C>A (p.Arg2309=)
c.6922C>A (p.Arg2308=)
c.6874C>A (p.Arg2292=)
c.6838C>A (p.Arg2280=)
c.6835C>A (p.Arg2279=)
c.6790C>A (p.Arg2264=)
n.7455C>A
Xg.77520833T>ACA413707110ATRXc.7155A>T (p.Lys2385Asn)
c.2253A>T (p.Lys751Asn)
c.7041A>T (p.Lys2347Asn)
c.*6783A>T (n.*6783A>T)
n.5475A>T
n.386A>T
c.7152A>T (p.Lys2384Asn)
c.7068A>T (p.Lys2356Asn)
c.7038A>T (p.Lys2346Asn)
c.6990A>T (p.Lys2330Asn)
c.6951A>T (p.Lys2317Asn)
c.6876A>T (p.Lys2292Asn)
n.8747A>T
c.7065A>T (p.Lys2355Asn)
c.7035A>T (p.Lys2345Asn)
c.6987A>T (p.Lys2329Asn)
c.6954A>T (p.Lys2318Asn)
c.6924A>T (p.Lys2308Asn)
c.6921A>T (p.Lys2307Asn)
c.6873A>T (p.Lys2291Asn)
c.6837A>T (p.Lys2279Asn)
c.6834A>T (p.Lys2278Asn)
c.6789A>T (p.Lys2263Asn)
n.7454A>T
Xg.77520833T>CCA517374388ATRXc.7155A>G (p.Lys2385=)
c.2253A>G (p.Lys751=)
c.7041A>G (p.Lys2347=)
c.*6783A>G (n.*6783A>G)
n.5475A>G
n.386A>G
c.7152A>G (p.Lys2384=)
c.7068A>G (p.Lys2356=)
c.7038A>G (p.Lys2346=)
c.6990A>G (p.Lys2330=)
c.6951A>G (p.Lys2317=)
c.6876A>G (p.Lys2292=)
n.8747A>G
c.7065A>G (p.Lys2355=)
c.7035A>G (p.Lys2345=)
c.6987A>G (p.Lys2329=)
c.6954A>G (p.Lys2318=)
c.6924A>G (p.Lys2308=)
c.6921A>G (p.Lys2307=)
c.6873A>G (p.Lys2291=)
c.6837A>G (p.Lys2279=)
c.6834A>G (p.Lys2278=)
c.6789A>G (p.Lys2263=)
n.7454A>G
Xg.77520833T>GCA413707111ATRXc.7155A>C (p.Lys2385Asn)
c.2253A>C (p.Lys751Asn)
c.7041A>C (p.Lys2347Asn)
c.*6783A>C (n.*6783A>C)
n.5475A>C
n.386A>C
c.7152A>C (p.Lys2384Asn)
c.7068A>C (p.Lys2356Asn)
c.7038A>C (p.Lys2346Asn)
c.6990A>C (p.Lys2330Asn)
c.6951A>C (p.Lys2317Asn)
c.6876A>C (p.Lys2292Asn)
n.8747A>C
c.7065A>C (p.Lys2355Asn)
c.7035A>C (p.Lys2345Asn)
c.6987A>C (p.Lys2329Asn)
c.6954A>C (p.Lys2318Asn)
c.6924A>C (p.Lys2308Asn)
c.6921A>C (p.Lys2307Asn)
c.6873A>C (p.Lys2291Asn)
c.6837A>C (p.Lys2279Asn)
c.6834A>C (p.Lys2278Asn)
c.6789A>C (p.Lys2263Asn)
n.7454A>C
Xg.77520834T>ACA413707122ATRXc.7154A>T (p.Lys2385Ile)
c.2252A>T (p.Lys751Ile)
c.7040A>T (p.Lys2347Ile)
c.*6782A>T (n.*6782A>T)
n.5474A>T
n.385A>T
c.7151A>T (p.Lys2384Ile)
c.7067A>T (p.Lys2356Ile)
c.7037A>T (p.Lys2346Ile)
c.6989A>T (p.Lys2330Ile)
c.6950A>T (p.Lys2317Ile)
c.6875A>T (p.Lys2292Ile)
n.8746A>T
c.7064A>T (p.Lys2355Ile)
c.7034A>T (p.Lys2345Ile)
c.6986A>T (p.Lys2329Ile)
c.6953A>T (p.Lys2318Ile)
c.6923A>T (p.Lys2308Ile)
c.6920A>T (p.Lys2307Ile)
c.6872A>T (p.Lys2291Ile)
c.6836A>T (p.Lys2279Ile)
c.6833A>T (p.Lys2278Ile)
c.6788A>T (p.Lys2263Ile)
n.7453A>T
Xg.77520834T>CCA413707123ATRXc.7154A>G (p.Lys2385Arg)
c.2252A>G (p.Lys751Arg)
c.7040A>G (p.Lys2347Arg)
c.*6782A>G (n.*6782A>G)
n.5474A>G
n.385A>G
c.7151A>G (p.Lys2384Arg)
c.7067A>G (p.Lys2356Arg)
c.7037A>G (p.Lys2346Arg)
c.6989A>G (p.Lys2330Arg)
c.6950A>G (p.Lys2317Arg)
c.6875A>G (p.Lys2292Arg)
n.8746A>G
c.7064A>G (p.Lys2355Arg)
c.7034A>G (p.Lys2345Arg)
c.6986A>G (p.Lys2329Arg)
c.6953A>G (p.Lys2318Arg)
c.6923A>G (p.Lys2308Arg)
c.6920A>G (p.Lys2307Arg)
c.6872A>G (p.Lys2291Arg)
c.6836A>G (p.Lys2279Arg)
c.6833A>G (p.Lys2278Arg)
c.6788A>G (p.Lys2263Arg)
n.7453A>G
Xg.77520834T>GCA413707124ATRXc.7154A>C (p.Lys2385Thr)
c.2252A>C (p.Lys751Thr)
c.7040A>C (p.Lys2347Thr)
c.*6782A>C (n.*6782A>C)
n.5474A>C
n.385A>C
c.7151A>C (p.Lys2384Thr)
c.7067A>C (p.Lys2356Thr)
c.7037A>C (p.Lys2346Thr)
c.6989A>C (p.Lys2330Thr)
c.6950A>C (p.Lys2317Thr)
c.6875A>C (p.Lys2292Thr)
n.8746A>C
c.7064A>C (p.Lys2355Thr)
c.7034A>C (p.Lys2345Thr)
c.6986A>C (p.Lys2329Thr)
c.6953A>C (p.Lys2318Thr)
c.6923A>C (p.Lys2308Thr)
c.6920A>C (p.Lys2307Thr)
c.6872A>C (p.Lys2291Thr)
c.6836A>C (p.Lys2279Thr)
c.6833A>C (p.Lys2278Thr)
c.6788A>C (p.Lys2263Thr)
n.7453A>C
Xg.77520835T>ACA413707128ATRXc.7153A>T (p.Lys2385Ter)
c.2251A>T (p.Lys751Ter)
c.7039A>T (p.Lys2347Ter)
c.*6781A>T (n.*6781A>T)
n.5473A>T
n.384A>T
c.7150A>T (p.Lys2384Ter)
c.7066A>T (p.Lys2356Ter)
c.7036A>T (p.Lys2346Ter)
c.6988A>T (p.Lys2330Ter)
c.6949A>T (p.Lys2317Ter)
c.6874A>T (p.Lys2292Ter)
n.8745A>T
c.7063A>T (p.Lys2355Ter)
c.7033A>T (p.Lys2345Ter)
c.6985A>T (p.Lys2329Ter)
c.6952A>T (p.Lys2318Ter)
c.6922A>T (p.Lys2308Ter)
c.6919A>T (p.Lys2307Ter)
c.6871A>T (p.Lys2291Ter)
c.6835A>T (p.Lys2279Ter)
c.6832A>T (p.Lys2278Ter)
c.6787A>T (p.Lys2263Ter)
n.7452A>T
Xg.77520835T>CCA413707129ATRXc.7153A>G (p.Lys2385Glu)
c.2251A>G (p.Lys751Glu)
c.7039A>G (p.Lys2347Glu)
c.*6781A>G (n.*6781A>G)
n.5473A>G
n.384A>G
c.7150A>G (p.Lys2384Glu)
c.7066A>G (p.Lys2356Glu)
c.7036A>G (p.Lys2346Glu)
c.6988A>G (p.Lys2330Glu)
c.6949A>G (p.Lys2317Glu)
c.6874A>G (p.Lys2292Glu)
n.8745A>G
c.7063A>G (p.Lys2355Glu)
c.7033A>G (p.Lys2345Glu)
c.6985A>G (p.Lys2329Glu)
c.6952A>G (p.Lys2318Glu)
c.6922A>G (p.Lys2308Glu)
c.6919A>G (p.Lys2307Glu)
c.6871A>G (p.Lys2291Glu)
c.6835A>G (p.Lys2279Glu)
c.6832A>G (p.Lys2278Glu)
c.6787A>G (p.Lys2263Glu)
n.7452A>G
 dbSNP gnomAD v3 gnomAD v4
Xg.77520835T>GCA413707130ATRXc.7153A>C (p.Lys2385Gln)
c.2251A>C (p.Lys751Gln)
c.7039A>C (p.Lys2347Gln)
c.*6781A>C (n.*6781A>C)
n.5473A>C
n.384A>C
c.7150A>C (p.Lys2384Gln)
c.7066A>C (p.Lys2356Gln)
c.7036A>C (p.Lys2346Gln)
c.6988A>C (p.Lys2330Gln)
c.6949A>C (p.Lys2317Gln)
c.6874A>C (p.Lys2292Gln)
n.8745A>C
c.7063A>C (p.Lys2355Gln)
c.7033A>C (p.Lys2345Gln)
c.6985A>C (p.Lys2329Gln)
c.6952A>C (p.Lys2318Gln)
c.6922A>C (p.Lys2308Gln)
c.6919A>C (p.Lys2307Gln)
c.6871A>C (p.Lys2291Gln)
c.6835A>C (p.Lys2279Gln)
c.6832A>C (p.Lys2278Gln)
c.6787A>C (p.Lys2263Gln)
n.7452A>C
Xg.77520835T=CA2438933063ATRXc.7153A= (p.Lys2385=)
c.2251A= (p.Lys751=)
c.7039A= (p.Lys2347=)
c.*6781A= (n.*6781A=)
n.5473A=
n.384A=
c.7150A= (p.Lys2384=)
c.7066A= (p.Lys2356=)
c.7036A= (p.Lys2346=)
c.6988A= (p.Lys2330=)
c.6949A= (p.Lys2317=)
c.6874A= (p.Lys2292=)
n.8745A=
c.7063A= (p.Lys2355=)
c.7033A= (p.Lys2345=)
c.6985A= (p.Lys2329=)
c.6952A= (p.Lys2318=)
c.6922A= (p.Lys2308=)
c.6919A= (p.Lys2307=)
c.6871A= (p.Lys2291=)
c.6835A= (p.Lys2279=)
c.6832A= (p.Lys2278=)
c.6787A= (p.Lys2263=)
n.7452A=
Xg.77520836A>CCA517374389ATRXc.7152T>G (p.Val2384=)
c.2250T>G (p.Val750=)
c.7038T>G (p.Val2346=)
c.*6780T>G (n.*6780T>G)
n.5472T>G
n.383T>G
c.7149T>G (p.Val2383=)
c.7065T>G (p.Val2355=)
c.7035T>G (p.Val2345=)
c.6987T>G (p.Val2329=)
c.6948T>G (p.Val2316=)
c.6873T>G (p.Val2291=)
n.8744T>G
c.7062T>G (p.Val2354=)
c.7032T>G (p.Val2344=)
c.6984T>G (p.Val2328=)
c.6951T>G (p.Val2317=)
c.6921T>G (p.Val2307=)
c.6918T>G (p.Val2306=)
c.6870T>G (p.Val2290=)
c.6834T>G (p.Val2278=)
c.6831T>G (p.Val2277=)
c.6786T>G (p.Val2262=)
n.7451T>G
Xg.77520836A>GCA517374391ATRXc.7152T>C (p.Val2384=)
c.2250T>C (p.Val750=)
c.7038T>C (p.Val2346=)
c.*6780T>C (n.*6780T>C)
n.5472T>C
n.383T>C
c.7149T>C (p.Val2383=)
c.7065T>C (p.Val2355=)
c.7035T>C (p.Val2345=)
c.6987T>C (p.Val2329=)
c.6948T>C (p.Val2316=)
c.6873T>C (p.Val2291=)
n.8744T>C
c.7062T>C (p.Val2354=)
c.7032T>C (p.Val2344=)
c.6984T>C (p.Val2328=)
c.6951T>C (p.Val2317=)
c.6921T>C (p.Val2307=)
c.6918T>C (p.Val2306=)
c.6870T>C (p.Val2290=)
c.6834T>C (p.Val2278=)
c.6831T>C (p.Val2277=)
c.6786T>C (p.Val2262=)
n.7451T>C
Xg.77520836A>TCA517374390ATRXc.7152T>A (p.Val2384=)
c.2250T>A (p.Val750=)
c.7038T>A (p.Val2346=)
c.*6780T>A (n.*6780T>A)
n.5472T>A
n.383T>A
c.7149T>A (p.Val2383=)
c.7065T>A (p.Val2355=)
c.7035T>A (p.Val2345=)
c.6987T>A (p.Val2329=)
c.6948T>A (p.Val2316=)
c.6873T>A (p.Val2291=)
n.8744T>A
c.7062T>A (p.Val2354=)
c.7032T>A (p.Val2344=)
c.6984T>A (p.Val2328=)
c.6951T>A (p.Val2317=)
c.6921T>A (p.Val2307=)
c.6918T>A (p.Val2306=)
c.6870T>A (p.Val2290=)
c.6834T>A (p.Val2278=)
c.6831T>A (p.Val2277=)
c.6786T>A (p.Val2262=)
n.7451T>A
Xg.77520837A>CCA413707137ATRXc.7151T>G (p.Val2384Gly)
c.2249T>G (p.Val750Gly)
c.7037T>G (p.Val2346Gly)
c.*6779T>G (n.*6779T>G)
n.5471T>G
n.382T>G
c.7148T>G (p.Val2383Gly)
c.7064T>G (p.Val2355Gly)
c.7034T>G (p.Val2345Gly)
c.6986T>G (p.Val2329Gly)
c.6947T>G (p.Val2316Gly)
c.6872T>G (p.Val2291Gly)
n.8743T>G
c.7061T>G (p.Val2354Gly)
c.7031T>G (p.Val2344Gly)
c.6983T>G (p.Val2328Gly)
c.6950T>G (p.Val2317Gly)
c.6920T>G (p.Val2307Gly)
c.6917T>G (p.Val2306Gly)
c.6869T>G (p.Val2290Gly)
c.6833T>G (p.Val2278Gly)
c.6830T>G (p.Val2277Gly)
c.6785T>G (p.Val2262Gly)
n.7450T>G
Xg.77520837A>GCA413707135ATRXc.7151T>C (p.Val2384Ala)
c.2249T>C (p.Val750Ala)
c.7037T>C (p.Val2346Ala)
c.*6779T>C (n.*6779T>C)
n.5471T>C
n.382T>C
c.7148T>C (p.Val2383Ala)
c.7064T>C (p.Val2355Ala)
c.7034T>C (p.Val2345Ala)
c.6986T>C (p.Val2329Ala)
c.6947T>C (p.Val2316Ala)
c.6872T>C (p.Val2291Ala)
n.8743T>C
c.7061T>C (p.Val2354Ala)
c.7031T>C (p.Val2344Ala)
c.6983T>C (p.Val2328Ala)
c.6950T>C (p.Val2317Ala)
c.6920T>C (p.Val2307Ala)
c.6917T>C (p.Val2306Ala)
c.6869T>C (p.Val2290Ala)
c.6833T>C (p.Val2278Ala)
c.6830T>C (p.Val2277Ala)
c.6785T>C (p.Val2262Ala)
n.7450T>C
Xg.77520837A>TCA413707133ATRXc.7151T>A (p.Val2384Asp)
c.2249T>A (p.Val750Asp)
c.7037T>A (p.Val2346Asp)
c.*6779T>A (n.*6779T>A)
n.5471T>A
n.382T>A
c.7148T>A (p.Val2383Asp)
c.7064T>A (p.Val2355Asp)
c.7034T>A (p.Val2345Asp)
c.6986T>A (p.Val2329Asp)
c.6947T>A (p.Val2316Asp)
c.6872T>A (p.Val2291Asp)
n.8743T>A
c.7061T>A (p.Val2354Asp)
c.7031T>A (p.Val2344Asp)
c.6983T>A (p.Val2328Asp)
c.6950T>A (p.Val2317Asp)
c.6920T>A (p.Val2307Asp)
c.6917T>A (p.Val2306Asp)
c.6869T>A (p.Val2290Asp)
c.6833T>A (p.Val2278Asp)
c.6830T>A (p.Val2277Asp)
c.6785T>A (p.Val2262Asp)
n.7450T>A
Xg.77520838C>ACA413707138ATRXc.7150G>T (p.Val2384Phe)
c.2248G>T (p.Val750Phe)
c.7036G>T (p.Val2346Phe)
c.*6778G>T (n.*6778G>T)
n.5470G>T
n.381G>T
c.7147G>T (p.Val2383Phe)
c.7063G>T (p.Val2355Phe)
c.7033G>T (p.Val2345Phe)
c.6985G>T (p.Val2329Phe)
c.6946G>T (p.Val2316Phe)
c.6871G>T (p.Val2291Phe)
n.8742G>T
c.7060G>T (p.Val2354Phe)
c.7030G>T (p.Val2344Phe)
c.6982G>T (p.Val2328Phe)
c.6949G>T (p.Val2317Phe)
c.6919G>T (p.Val2307Phe)
c.6916G>T (p.Val2306Phe)
c.6868G>T (p.Val2290Phe)
c.6832G>T (p.Val2278Phe)
c.6829G>T (p.Val2277Phe)
c.6784G>T (p.Val2262Phe)
n.7449G>T
Xg.77520838C=CA2438933064ATRXc.7150G= (p.Val2384=)
c.2248G= (p.Val750=)
c.7036G= (p.Val2346=)
c.*6778G= (n.*6778G=)
n.5470G=
n.381G=
c.7147G= (p.Val2383=)
c.7063G= (p.Val2355=)
c.7033G= (p.Val2345=)
c.6985G= (p.Val2329=)
c.6946G= (p.Val2316=)
c.6871G= (p.Val2291=)
n.8742G=
c.7060G= (p.Val2354=)
c.7030G= (p.Val2344=)
c.6982G= (p.Val2328=)
c.6949G= (p.Val2317=)
c.6919G= (p.Val2307=)
c.6916G= (p.Val2306=)
c.6868G= (p.Val2290=)
c.6832G= (p.Val2278=)
c.6829G= (p.Val2277=)
c.6784G= (p.Val2262=)
n.7449G=
Xg.77520838C>GCA413707140ATRXc.7150G>C (p.Val2384Leu)
c.2248G>C (p.Val750Leu)
c.7036G>C (p.Val2346Leu)
c.*6778G>C (n.*6778G>C)
n.5470G>C
n.381G>C
c.7147G>C (p.Val2383Leu)
c.7063G>C (p.Val2355Leu)
c.7033G>C (p.Val2345Leu)
c.6985G>C (p.Val2329Leu)
c.6946G>C (p.Val2316Leu)
c.6871G>C (p.Val2291Leu)
n.8742G>C
c.7060G>C (p.Val2354Leu)
c.7030G>C (p.Val2344Leu)
c.6982G>C (p.Val2328Leu)
c.6949G>C (p.Val2317Leu)
c.6919G>C (p.Val2307Leu)
c.6916G>C (p.Val2306Leu)
c.6868G>C (p.Val2290Leu)
c.6832G>C (p.Val2278Leu)
c.6829G>C (p.Val2277Leu)
c.6784G>C (p.Val2262Leu)
n.7449G>C
Xg.77520838C>TCA413707142ATRXc.7150G>A (p.Val2384Ile)
c.2248G>A (p.Val750Ile)
c.7036G>A (p.Val2346Ile)
c.*6778G>A (n.*6778G>A)
n.5470G>A
n.381G>A
c.7147G>A (p.Val2383Ile)
c.7063G>A (p.Val2355Ile)
c.7033G>A (p.Val2345Ile)
c.6985G>A (p.Val2329Ile)
c.6946G>A (p.Val2316Ile)
c.6871G>A (p.Val2291Ile)
n.8742G>A
c.7060G>A (p.Val2354Ile)
c.7030G>A (p.Val2344Ile)
c.6982G>A (p.Val2328Ile)
c.6949G>A (p.Val2317Ile)
c.6919G>A (p.Val2307Ile)
c.6916G>A (p.Val2306Ile)
c.6868G>A (p.Val2290Ile)
c.6832G>A (p.Val2278Ile)
c.6829G>A (p.Val2277Ile)
c.6784G>A (p.Val2262Ile)
n.7449G>A
 dbSNP gnomAD v2 gnomAD v4
Xg.77520838_77520839insTTTTAATTTTTGTGAGTATATAATAGGTATATATCA2532902875ATRXc.7149_7150insATATATACCTATTATATACTCACAAAAATTAAAA (p.Val2384IlefsTer13)
c.2247_2248insATATATACCTATTATATACTCACAAAAATTAAAA (p.Val750IlefsTer13)
c.7035_7036insATATATACCTATTATATACTCACAAAAATTAAAA (p.Val2346IlefsTer13)
c.*6777_*6778insATATATACCTATTATATACTCACAAAAATTAAAA (n.*6777_*6778insATATATACCTATTATATACTCACAAAAATTAAAA)
n.5469_5470insATATATACCTATTATATACTCACAAAAATTAAAA
n.380_381insATATATACCTATTATATACTCACAAAAATTAAAA
c.7146_7147insATATATACCTATTATATACTCACAAAAATTAAAA (p.Val2383IlefsTer13)
c.7062_7063insATATATACCTATTATATACTCACAAAAATTAAAA (p.Val2355IlefsTer13)
c.7032_7033insATATATACCTATTATATACTCACAAAAATTAAAA (p.Val2345IlefsTer13)
c.6984_6985insATATATACCTATTATATACTCACAAAAATTAAAA (p.Val2329IlefsTer13)
c.6945_6946insATATATACCTATTATATACTCACAAAAATTAAAA (p.Val2316IlefsTer13)
c.6870_6871insATATATACCTATTATATACTCACAAAAATTAAAA (p.Val2291IlefsTer13)
n.8741_8742insATATATACCTATTATATACTCACAAAAATTAAAA
c.7059_7060insATATATACCTATTATATACTCACAAAAATTAAAA (p.Val2354IlefsTer13)
c.7029_7030insATATATACCTATTATATACTCACAAAAATTAAAA (p.Val2344IlefsTer13)
c.6981_6982insATATATACCTATTATATACTCACAAAAATTAAAA (p.Val2328IlefsTer13)
c.6948_6949insATATATACCTATTATATACTCACAAAAATTAAAA (p.Val2317IlefsTer13)
c.6918_6919insATATATACCTATTATATACTCACAAAAATTAAAA (p.Val2307IlefsTer13)
c.6915_6916insATATATACCTATTATATACTCACAAAAATTAAAA (p.Val2306IlefsTer13)
c.6867_6868insATATATACCTATTATATACTCACAAAAATTAAAA (p.Val2290IlefsTer13)
c.6831_6832insATATATACCTATTATATACTCACAAAAATTAAAA (p.Val2278IlefsTer13)
c.6828_6829insATATATACCTATTATATACTCACAAAAATTAAAA (p.Val2277IlefsTer13)
c.6783_6784insATATATACCTATTATATACTCACAAAAATTAAAA (p.Val2262IlefsTer13)
n.7448_7449insATATATACCTATTATATACTCACAAAAATTAAAA
Xg.77520839A>CCA413707144ATRXc.7149T>G (p.Asp2383Glu)
c.2247T>G (p.Asp749Glu)
c.7035T>G (p.Asp2345Glu)
c.*6777T>G (n.*6777T>G)
n.5469T>G
n.380T>G
c.7146T>G (p.Asp2382Glu)
c.7062T>G (p.Asp2354Glu)
c.7032T>G (p.Asp2344Glu)
c.6984T>G (p.Asp2328Glu)
c.6945T>G (p.Asp2315Glu)
c.6870T>G (p.Asp2290Glu)
n.8741T>G
c.7059T>G (p.Asp2353Glu)
c.7029T>G (p.Asp2343Glu)
c.6981T>G (p.Asp2327Glu)
c.6948T>G (p.Asp2316Glu)
c.6918T>G (p.Asp2306Glu)
c.6915T>G (p.Asp2305Glu)
c.6867T>G (p.Asp2289Glu)
c.6831T>G (p.Asp2277Glu)
c.6828T>G (p.Asp2276Glu)
c.6783T>G (p.Asp2261Glu)
n.7448T>G
Xg.77520839A>GCA517374392ATRXc.7149T>C (p.Asp2383=)
c.2247T>C (p.Asp749=)
c.7035T>C (p.Asp2345=)
c.*6777T>C (n.*6777T>C)
n.5469T>C
n.380T>C
c.7146T>C (p.Asp2382=)
c.7062T>C (p.Asp2354=)
c.7032T>C (p.Asp2344=)
c.6984T>C (p.Asp2328=)
c.6945T>C (p.Asp2315=)
c.6870T>C (p.Asp2290=)
n.8741T>C
c.7059T>C (p.Asp2353=)
c.7029T>C (p.Asp2343=)
c.6981T>C (p.Asp2327=)
c.6948T>C (p.Asp2316=)
c.6918T>C (p.Asp2306=)
c.6915T>C (p.Asp2305=)
c.6867T>C (p.Asp2289=)
c.6831T>C (p.Asp2277=)
c.6828T>C (p.Asp2276=)
c.6783T>C (p.Asp2261=)
n.7448T>C
Xg.77520839A>TCA413707146ATRXc.7149T>A (p.Asp2383Glu)
c.2247T>A (p.Asp749Glu)
c.7035T>A (p.Asp2345Glu)
c.*6777T>A (n.*6777T>A)
n.5469T>A
n.380T>A
c.7146T>A (p.Asp2382Glu)
c.7062T>A (p.Asp2354Glu)
c.7032T>A (p.Asp2344Glu)
c.6984T>A (p.Asp2328Glu)
c.6945T>A (p.Asp2315Glu)
c.6870T>A (p.Asp2290Glu)
n.8741T>A
c.7059T>A (p.Asp2353Glu)
c.7029T>A (p.Asp2343Glu)
c.6981T>A (p.Asp2327Glu)
c.6948T>A (p.Asp2316Glu)
c.6918T>A (p.Asp2306Glu)
c.6915T>A (p.Asp2305Glu)
c.6867T>A (p.Asp2289Glu)
c.6831T>A (p.Asp2277Glu)
c.6828T>A (p.Asp2276Glu)
c.6783T>A (p.Asp2261Glu)
n.7448T>A
Xg.77520840T>ACA413707148ATRXc.7148A>T (p.Asp2383Val)
c.2246A>T (p.Asp749Val)
c.7034A>T (p.Asp2345Val)
c.*6776A>T (n.*6776A>T)
n.5468A>T
n.379A>T
c.7145A>T (p.Asp2382Val)
c.7061A>T (p.Asp2354Val)
c.7031A>T (p.Asp2344Val)
c.6983A>T (p.Asp2328Val)
c.6944A>T (p.Asp2315Val)
c.6869A>T (p.Asp2290Val)
n.8740A>T
c.7058A>T (p.Asp2353Val)
c.7028A>T (p.Asp2343Val)
c.6980A>T (p.Asp2327Val)
c.6947A>T (p.Asp2316Val)
c.6917A>T (p.Asp2306Val)
c.6914A>T (p.Asp2305Val)
c.6866A>T (p.Asp2289Val)
c.6830A>T (p.Asp2277Val)
c.6827A>T (p.Asp2276Val)
c.6782A>T (p.Asp2261Val)
n.7447A>T
Xg.77520840T>CCA413707150ATRXc.7148A>G (p.Asp2383Gly)
c.2246A>G (p.Asp749Gly)
c.7034A>G (p.Asp2345Gly)
c.*6776A>G (n.*6776A>G)
n.5468A>G
n.379A>G
c.7145A>G (p.Asp2382Gly)
c.7061A>G (p.Asp2354Gly)
c.7031A>G (p.Asp2344Gly)
c.6983A>G (p.Asp2328Gly)
c.6944A>G (p.Asp2315Gly)
c.6869A>G (p.Asp2290Gly)
n.8740A>G
c.7058A>G (p.Asp2353Gly)
c.7028A>G (p.Asp2343Gly)
c.6980A>G (p.Asp2327Gly)
c.6947A>G (p.Asp2316Gly)
c.6917A>G (p.Asp2306Gly)
c.6914A>G (p.Asp2305Gly)
c.6866A>G (p.Asp2289Gly)
c.6830A>G (p.Asp2277Gly)
c.6827A>G (p.Asp2276Gly)
c.6782A>G (p.Asp2261Gly)
n.7447A>G
Xg.77520840T>GCA413707151ATRXc.7148A>C (p.Asp2383Ala)
c.2246A>C (p.Asp749Ala)
c.7034A>C (p.Asp2345Ala)
c.*6776A>C (n.*6776A>C)
n.5468A>C
n.379A>C
c.7145A>C (p.Asp2382Ala)
c.7061A>C (p.Asp2354Ala)
c.7031A>C (p.Asp2344Ala)
c.6983A>C (p.Asp2328Ala)
c.6944A>C (p.Asp2315Ala)
c.6869A>C (p.Asp2290Ala)
n.8740A>C
c.7058A>C (p.Asp2353Ala)
c.7028A>C (p.Asp2343Ala)
c.6980A>C (p.Asp2327Ala)
c.6947A>C (p.Asp2316Ala)
c.6917A>C (p.Asp2306Ala)
c.6914A>C (p.Asp2305Ala)
c.6866A>C (p.Asp2289Ala)
c.6830A>C (p.Asp2277Ala)
c.6827A>C (p.Asp2276Ala)
c.6782A>C (p.Asp2261Ala)
n.7447A>C
Xg.77520841C>ACA413707152ATRXc.7147G>T (p.Asp2383Tyr)
c.2245G>T (p.Asp749Tyr)
c.7033G>T (p.Asp2345Tyr)
c.*6775G>T (n.*6775G>T)
n.5467G>T
n.378G>T
c.7144G>T (p.Asp2382Tyr)
c.7060G>T (p.Asp2354Tyr)
c.7030G>T (p.Asp2344Tyr)
c.6982G>T (p.Asp2328Tyr)
c.6943G>T (p.Asp2315Tyr)
c.6868G>T (p.Asp2290Tyr)
n.8739G>T
c.7057G>T (p.Asp2353Tyr)
c.7027G>T (p.Asp2343Tyr)
c.6979G>T (p.Asp2327Tyr)
c.6946G>T (p.Asp2316Tyr)
c.6916G>T (p.Asp2306Tyr)
c.6913G>T (p.Asp2305Tyr)
c.6865G>T (p.Asp2289Tyr)
c.6829G>T (p.Asp2277Tyr)
c.6826G>T (p.Asp2276Tyr)
c.6781G>T (p.Asp2261Tyr)
n.7446G>T
Xg.77520841C=CA2438933065ATRXc.7147G= (p.Asp2383=)
c.2245G= (p.Asp749=)
c.7033G= (p.Asp2345=)
c.*6775G= (n.*6775G=)
n.5467G=
n.378G=
c.7144G= (p.Asp2382=)
c.7060G= (p.Asp2354=)
c.7030G= (p.Asp2344=)
c.6982G= (p.Asp2328=)
c.6943G= (p.Asp2315=)
c.6868G= (p.Asp2290=)
n.8739G=
c.7057G= (p.Asp2353=)
c.7027G= (p.Asp2343=)
c.6979G= (p.Asp2327=)
c.6946G= (p.Asp2316=)
c.6916G= (p.Asp2306=)
c.6913G= (p.Asp2305=)
c.6865G= (p.Asp2289=)
c.6829G= (p.Asp2277=)
c.6826G= (p.Asp2276=)
c.6781G= (p.Asp2261=)
n.7446G=
Xg.77520841C>GCA16043294ATRXc.7147G>C (p.Asp2383His)
c.2245G>C (p.Asp749His)
c.7033G>C (p.Asp2345His)
c.*6775G>C (n.*6775G>C)
n.5467G>C
n.378G>C
c.7144G>C (p.Asp2382His)
c.7060G>C (p.Asp2354His)
c.7030G>C (p.Asp2344His)
c.6982G>C (p.Asp2328His)
c.6943G>C (p.Asp2315His)
c.6868G>C (p.Asp2290His)
n.8739G>C
c.7057G>C (p.Asp2353His)
c.7027G>C (p.Asp2343His)
c.6979G>C (p.Asp2327His)
c.6946G>C (p.Asp2316His)
c.6916G>C (p.Asp2306His)
c.6913G>C (p.Asp2305His)
c.6865G>C (p.Asp2289His)
c.6829G>C (p.Asp2277His)
c.6826G>C (p.Asp2276His)
c.6781G>C (p.Asp2261His)
n.7446G>C
 ClinVar dbSNP
Xg.77520841C>TCA413707154ATRXc.7147G>A (p.Asp2383Asn)
c.2245G>A (p.Asp749Asn)
c.7033G>A (p.Asp2345Asn)
c.*6775G>A (n.*6775G>A)
n.5467G>A
n.378G>A
c.7144G>A (p.Asp2382Asn)
c.7060G>A (p.Asp2354Asn)
c.7030G>A (p.Asp2344Asn)
c.6982G>A (p.Asp2328Asn)
c.6943G>A (p.Asp2315Asn)
c.6868G>A (p.Asp2290Asn)
n.8739G>A
c.7057G>A (p.Asp2353Asn)
c.7027G>A (p.Asp2343Asn)
c.6979G>A (p.Asp2327Asn)
c.6946G>A (p.Asp2316Asn)
c.6916G>A (p.Asp2306Asn)
c.6913G>A (p.Asp2305Asn)
c.6865G>A (p.Asp2289Asn)
c.6829G>A (p.Asp2277Asn)
c.6826G>A (p.Asp2276Asn)
c.6781G>A (p.Asp2261Asn)
n.7446G>A
Xg.77520842A=CA2438933066ATRXc.7146T= (p.Leu2382=)
c.2244T= (p.Leu748=)
c.7032T= (p.Leu2344=)
c.*6774T= (n.*6774T=)
n.5466T=
n.377T=
c.7143T= (p.Leu2381=)
c.7059T= (p.Leu2353=)
c.7029T= (p.Leu2343=)
c.6981T= (p.Leu2327=)
c.6942T= (p.Leu2314=)
c.6867T= (p.Leu2289=)
n.8738T=
c.7056T= (p.Leu2352=)
c.7026T= (p.Leu2342=)
c.6978T= (p.Leu2326=)
c.6945T= (p.Leu2315=)
c.6915T= (p.Leu2305=)
c.6912T= (p.Leu2304=)
c.6864T= (p.Leu2288=)
c.6828T= (p.Leu2276=)
c.6825T= (p.Leu2275=)
c.6780T= (p.Leu2260=)
n.7445T=
Xg.77520842A>CCA517374393ATRXc.7146T>G (p.Leu2382=)
c.2244T>G (p.Leu748=)
c.7032T>G (p.Leu2344=)
c.*6774T>G (n.*6774T>G)
n.5466T>G
n.377T>G
c.7143T>G (p.Leu2381=)
c.7059T>G (p.Leu2353=)
c.7029T>G (p.Leu2343=)
c.6981T>G (p.Leu2327=)
c.6942T>G (p.Leu2314=)
c.6867T>G (p.Leu2289=)
n.8738T>G
c.7056T>G (p.Leu2352=)
c.7026T>G (p.Leu2342=)
c.6978T>G (p.Leu2326=)
c.6945T>G (p.Leu2315=)
c.6915T>G (p.Leu2305=)
c.6912T>G (p.Leu2304=)
c.6864T>G (p.Leu2288=)
c.6828T>G (p.Leu2276=)
c.6825T>G (p.Leu2275=)
c.6780T>G (p.Leu2260=)
n.7445T>G
 dbSNP
Xg.77520842A>GCA517374394ATRXc.7146T>C (p.Leu2382=)
c.2244T>C (p.Leu748=)
c.7032T>C (p.Leu2344=)
c.*6774T>C (n.*6774T>C)
n.5466T>C
n.377T>C
c.7143T>C (p.Leu2381=)
c.7059T>C (p.Leu2353=)
c.7029T>C (p.Leu2343=)
c.6981T>C (p.Leu2327=)
c.6942T>C (p.Leu2314=)
c.6867T>C (p.Leu2289=)
n.8738T>C
c.7056T>C (p.Leu2352=)
c.7026T>C (p.Leu2342=)
c.6978T>C (p.Leu2326=)
c.6945T>C (p.Leu2315=)
c.6915T>C (p.Leu2305=)
c.6912T>C (p.Leu2304=)
c.6864T>C (p.Leu2288=)
c.6828T>C (p.Leu2276=)
c.6825T>C (p.Leu2275=)
c.6780T>C (p.Leu2260=)
n.7445T>C
Xg.77520842A>TCA517374395ATRXc.7146T>A (p.Leu2382=)
c.2244T>A (p.Leu748=)
c.7032T>A (p.Leu2344=)
c.*6774T>A (n.*6774T>A)
n.5466T>A
n.377T>A
c.7143T>A (p.Leu2381=)
c.7059T>A (p.Leu2353=)
c.7029T>A (p.Leu2343=)
c.6981T>A (p.Leu2327=)
c.6942T>A (p.Leu2314=)
c.6867T>A (p.Leu2289=)
n.8738T>A
c.7056T>A (p.Leu2352=)
c.7026T>A (p.Leu2342=)
c.6978T>A (p.Leu2326=)
c.6945T>A (p.Leu2315=)
c.6915T>A (p.Leu2305=)
c.6912T>A (p.Leu2304=)
c.6864T>A (p.Leu2288=)
c.6828T>A (p.Leu2276=)
c.6825T>A (p.Leu2275=)
c.6780T>A (p.Leu2260=)
n.7445T>A

Number of alleles fetched