Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.133133410A= | CA1821104850 | TG | c.7998-60A= (n.7998-60A=) c.3364-60A= c.2397-60A= (n.2397-60A=) c.210-60A= (n.210-60A=) n.24A= c.4653-60A= c.7806-60A= (n.7806-60A=) c.7935-60A= (n.7935-60A=) c.7932-60A= (n.7932-60A=) c.7863-60A= (n.7863-60A=) c.7827-60A= (n.7827-60A=) c.7779-60A= (n.7779-60A=) c.7737-60A= (n.7737-60A=) | |
8 | g.133133410A>T | CA186356547 | TG | c.7998-60A>T (n.7998-60A>T) c.3364-60A>T c.2397-60A>T (n.2397-60A>T) c.210-60A>T (n.210-60A>T) n.24A>T c.4653-60A>T c.7806-60A>T (n.7806-60A>T) c.7935-60A>T (n.7935-60A>T) c.7932-60A>T (n.7932-60A>T) c.7863-60A>T (n.7863-60A>T) c.7827-60A>T (n.7827-60A>T) c.7779-60A>T (n.7779-60A>T) c.7737-60A>T (n.7737-60A>T) | dbSNP |
8 | g.133133411G>A | CA186356574 | TG | c.7998-59G>A (n.7998-59G>A) c.3364-59G>A c.2397-59G>A (n.2397-59G>A) c.210-59G>A (n.210-59G>A) n.25G>A c.4653-59G>A c.7806-59G>A (n.7806-59G>A) c.7935-59G>A (n.7935-59G>A) c.7932-59G>A (n.7932-59G>A) c.7863-59G>A (n.7863-59G>A) c.7827-59G>A (n.7827-59G>A) c.7779-59G>A (n.7779-59G>A) c.7737-59G>A (n.7737-59G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.133133411G= | CA1821104851 | TG | c.7998-59G= (n.7998-59G=) c.3364-59G= c.2397-59G= (n.2397-59G=) c.210-59G= (n.210-59G=) n.25G= c.4653-59G= c.7806-59G= (n.7806-59G=) c.7935-59G= (n.7935-59G=) c.7932-59G= (n.7932-59G=) c.7863-59G= (n.7863-59G=) c.7827-59G= (n.7827-59G=) c.7779-59G= (n.7779-59G=) c.7737-59G= (n.7737-59G=) | |
8 | g.133133412G>A | CA2688665252 | TG | c.7998-58G>A (n.7998-58G>A) c.3364-58G>A c.2397-58G>A (n.2397-58G>A) c.210-58G>A (n.210-58G>A) n.26G>A c.4653-58G>A c.7806-58G>A (n.7806-58G>A) c.7935-58G>A (n.7935-58G>A) c.7932-58G>A (n.7932-58G>A) c.7863-58G>A (n.7863-58G>A) c.7827-58G>A (n.7827-58G>A) c.7779-58G>A (n.7779-58G>A) c.7737-58G>A (n.7737-58G>A) | gnomAD v4 |
8 | g.133133412G>C | CA2688665253 | TG | c.7998-58G>C (n.7998-58G>C) c.3364-58G>C c.2397-58G>C (n.2397-58G>C) c.210-58G>C (n.210-58G>C) n.26G>C c.4653-58G>C c.7806-58G>C (n.7806-58G>C) c.7935-58G>C (n.7935-58G>C) c.7932-58G>C (n.7932-58G>C) c.7863-58G>C (n.7863-58G>C) c.7827-58G>C (n.7827-58G>C) c.7779-58G>C (n.7779-58G>C) c.7737-58G>C (n.7737-58G>C) | gnomAD v4 |
8 | g.133133413T>A | CA2688665254 | TG | c.7998-57T>A (n.7998-57T>A) c.3364-57T>A c.2397-57T>A (n.2397-57T>A) c.210-57T>A (n.210-57T>A) n.27T>A c.4653-57T>A c.7806-57T>A (n.7806-57T>A) c.7935-57T>A (n.7935-57T>A) c.7932-57T>A (n.7932-57T>A) c.7863-57T>A (n.7863-57T>A) c.7827-57T>A (n.7827-57T>A) c.7779-57T>A (n.7779-57T>A) c.7737-57T>A (n.7737-57T>A) | gnomAD v4 |
8 | g.133133416T>A | CA2688665255 | TG | c.7998-54T>A (n.7998-54T>A) c.3364-54T>A c.2397-54T>A (n.2397-54T>A) c.210-54T>A (n.210-54T>A) n.30T>A c.4653-54T>A c.7806-54T>A (n.7806-54T>A) c.7935-54T>A (n.7935-54T>A) c.7932-54T>A (n.7932-54T>A) c.7863-54T>A (n.7863-54T>A) c.7827-54T>A (n.7827-54T>A) c.7779-54T>A (n.7779-54T>A) c.7737-54T>A (n.7737-54T>A) | gnomAD v4 |
8 | g.133133417G>A | CA2688665257 | TG | c.7998-53G>A (n.7998-53G>A) c.3364-53G>A c.2397-53G>A (n.2397-53G>A) c.210-53G>A (n.210-53G>A) n.31G>A c.4653-53G>A c.7806-53G>A (n.7806-53G>A) c.7935-53G>A (n.7935-53G>A) c.7932-53G>A (n.7932-53G>A) c.7863-53G>A (n.7863-53G>A) c.7827-53G>A (n.7827-53G>A) c.7779-53G>A (n.7779-53G>A) c.7737-53G>A (n.7737-53G>A) | gnomAD v4 |
8 | g.133133417G>C | CA2688665256 | TG | c.7998-53G>C (n.7998-53G>C) c.3364-53G>C c.2397-53G>C (n.2397-53G>C) c.210-53G>C (n.210-53G>C) n.31G>C c.4653-53G>C c.7806-53G>C (n.7806-53G>C) c.7935-53G>C (n.7935-53G>C) c.7932-53G>C (n.7932-53G>C) c.7863-53G>C (n.7863-53G>C) c.7827-53G>C (n.7827-53G>C) c.7779-53G>C (n.7779-53G>C) c.7737-53G>C (n.7737-53G>C) | gnomAD v4 |
8 | g.133133421G>A | CA4885864 | TG | c.7998-49G>A (n.7998-49G>A) c.3364-49G>A c.2397-49G>A (n.2397-49G>A) c.210-49G>A (n.210-49G>A) n.35G>A c.4653-49G>A c.7806-49G>A (n.7806-49G>A) c.7935-49G>A (n.7935-49G>A) c.7932-49G>A (n.7932-49G>A) c.7863-49G>A (n.7863-49G>A) c.7827-49G>A (n.7827-49G>A) c.7779-49G>A (n.7779-49G>A) c.7737-49G>A (n.7737-49G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.133133421G= | CA1821104852 | TG | c.7998-49G= (n.7998-49G=) c.3364-49G= c.2397-49G= (n.2397-49G=) c.210-49G= (n.210-49G=) n.35G= c.4653-49G= c.7806-49G= (n.7806-49G=) c.7935-49G= (n.7935-49G=) c.7932-49G= (n.7932-49G=) c.7863-49G= (n.7863-49G=) c.7827-49G= (n.7827-49G=) c.7779-49G= (n.7779-49G=) c.7737-49G= (n.7737-49G=) | |
8 | g.133133422G>A | CA186356592 | TG | c.7998-48G>A (n.7998-48G>A) c.3364-48G>A c.2397-48G>A (n.2397-48G>A) c.210-48G>A (n.210-48G>A) n.36G>A c.4653-48G>A c.7806-48G>A (n.7806-48G>A) c.7935-48G>A (n.7935-48G>A) c.7932-48G>A (n.7932-48G>A) c.7863-48G>A (n.7863-48G>A) c.7827-48G>A (n.7827-48G>A) c.7779-48G>A (n.7779-48G>A) c.7737-48G>A (n.7737-48G>A) | dbSNP gnomAD v4 |
8 | g.133133422G= | CA1821104853 | TG | c.7998-48G= (n.7998-48G=) c.3364-48G= c.2397-48G= (n.2397-48G=) c.210-48G= (n.210-48G=) n.36G= c.4653-48G= c.7806-48G= (n.7806-48G=) c.7935-48G= (n.7935-48G=) c.7932-48G= (n.7932-48G=) c.7863-48G= (n.7863-48G=) c.7827-48G= (n.7827-48G=) c.7779-48G= (n.7779-48G=) c.7737-48G= (n.7737-48G=) | |
8 | g.133133423A= | CA1821104854 | TG | c.7998-47A= (n.7998-47A=) c.3364-47A= c.2397-47A= (n.2397-47A=) c.210-47A= (n.210-47A=) n.37A= c.4653-47A= c.7806-47A= (n.7806-47A=) c.7935-47A= (n.7935-47A=) c.7932-47A= (n.7932-47A=) c.7863-47A= (n.7863-47A=) c.7827-47A= (n.7827-47A=) c.7779-47A= (n.7779-47A=) c.7737-47A= (n.7737-47A=) | |
8 | g.133133423A>G | CA4885865 | TG | c.7998-47A>G (n.7998-47A>G) c.3364-47A>G c.2397-47A>G (n.2397-47A>G) c.210-47A>G (n.210-47A>G) n.37A>G c.4653-47A>G c.7806-47A>G (n.7806-47A>G) c.7935-47A>G (n.7935-47A>G) c.7932-47A>G (n.7932-47A>G) c.7863-47A>G (n.7863-47A>G) c.7827-47A>G (n.7827-47A>G) c.7779-47A>G (n.7779-47A>G) c.7737-47A>G (n.7737-47A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.133133424A= | CA1821104855 | TG | c.7998-46A= (n.7998-46A=) c.3364-46A= c.2397-46A= (n.2397-46A=) c.210-46A= (n.210-46A=) n.38A= c.4653-46A= c.7806-46A= (n.7806-46A=) c.7935-46A= (n.7935-46A=) c.7932-46A= (n.7932-46A=) c.7863-46A= (n.7863-46A=) c.7827-46A= (n.7827-46A=) c.7779-46A= (n.7779-46A=) c.7737-46A= (n.7737-46A=) | |
8 | g.133133424A>G | CA1821104856 | TG | c.7998-46A>G (n.7998-46A>G) c.3364-46A>G c.2397-46A>G (n.2397-46A>G) c.210-46A>G (n.210-46A>G) n.38A>G c.4653-46A>G c.7806-46A>G (n.7806-46A>G) c.7935-46A>G (n.7935-46A>G) c.7932-46A>G (n.7932-46A>G) c.7863-46A>G (n.7863-46A>G) c.7827-46A>G (n.7827-46A>G) c.7779-46A>G (n.7779-46A>G) c.7737-46A>G (n.7737-46A>G) | dbSNP |
8 | g.133133425A>T | CA2688665258 | TG | c.7998-45A>T (n.7998-45A>T) c.3364-45A>T c.2397-45A>T (n.2397-45A>T) c.210-45A>T (n.210-45A>T) n.39A>T c.4653-45A>T c.7806-45A>T (n.7806-45A>T) c.7935-45A>T (n.7935-45A>T) c.7932-45A>T (n.7932-45A>T) c.7863-45A>T (n.7863-45A>T) c.7827-45A>T (n.7827-45A>T) c.7779-45A>T (n.7779-45A>T) c.7737-45A>T (n.7737-45A>T) | gnomAD v4 |
8 | g.133133427A= | CA1821104857 | TG | c.7998-43A= (n.7998-43A=) c.3364-43A= c.2397-43A= (n.2397-43A=) c.210-43A= (n.210-43A=) n.41A= c.4653-43A= c.7806-43A= (n.7806-43A=) c.7935-43A= (n.7935-43A=) c.7932-43A= (n.7932-43A=) c.7863-43A= (n.7863-43A=) c.7827-43A= (n.7827-43A=) c.7779-43A= (n.7779-43A=) c.7737-43A= (n.7737-43A=) | |
8 | g.133133427A>T | CA4885866 | TG | c.7998-43A>T (n.7998-43A>T) c.3364-43A>T c.2397-43A>T (n.2397-43A>T) c.210-43A>T (n.210-43A>T) n.41A>T c.4653-43A>T c.7806-43A>T (n.7806-43A>T) c.7935-43A>T (n.7935-43A>T) c.7932-43A>T (n.7932-43A>T) c.7863-43A>T (n.7863-43A>T) c.7827-43A>T (n.7827-43A>T) c.7779-43A>T (n.7779-43A>T) c.7737-43A>T (n.7737-43A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.133133428C>A | CA2688665259 | TG | c.7998-42C>A (n.7998-42C>A) c.3364-42C>A c.2397-42C>A (n.2397-42C>A) c.210-42C>A (n.210-42C>A) n.42C>A c.4653-42C>A c.7806-42C>A (n.7806-42C>A) c.7935-42C>A (n.7935-42C>A) c.7932-42C>A (n.7932-42C>A) c.7863-42C>A (n.7863-42C>A) c.7827-42C>A (n.7827-42C>A) c.7779-42C>A (n.7779-42C>A) c.7737-42C>A (n.7737-42C>A) | gnomAD v4 |
8 | g.133133428C= | CA1821104859 | TG | c.7998-42C= (n.7998-42C=) c.3364-42C= c.2397-42C= (n.2397-42C=) c.210-42C= (n.210-42C=) n.42C= c.4653-42C= c.7806-42C= (n.7806-42C=) c.7935-42C= (n.7935-42C=) c.7932-42C= (n.7932-42C=) c.7863-42C= (n.7863-42C=) c.7827-42C= (n.7827-42C=) c.7779-42C= (n.7779-42C=) c.7737-42C= (n.7737-42C=) | |
8 | g.133133428C>G | CA585277878 | TG | c.7998-42C>G (n.7998-42C>G) c.3364-42C>G c.2397-42C>G (n.2397-42C>G) c.210-42C>G (n.210-42C>G) n.42C>G c.4653-42C>G c.7806-42C>G (n.7806-42C>G) c.7935-42C>G (n.7935-42C>G) c.7932-42C>G (n.7932-42C>G) c.7863-42C>G (n.7863-42C>G) c.7827-42C>G (n.7827-42C>G) c.7779-42C>G (n.7779-42C>G) c.7737-42C>G (n.7737-42C>G) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.133133428C>T | CA2688665260 | TG | c.7998-42C>T (n.7998-42C>T) c.3364-42C>T c.2397-42C>T (n.2397-42C>T) c.210-42C>T (n.210-42C>T) n.42C>T c.4653-42C>T c.7806-42C>T (n.7806-42C>T) c.7935-42C>T (n.7935-42C>T) c.7932-42C>T (n.7932-42C>T) c.7863-42C>T (n.7863-42C>T) c.7827-42C>T (n.7827-42C>T) c.7779-42C>T (n.7779-42C>T) c.7737-42C>T (n.7737-42C>T) | gnomAD v4 |
8 | g.133133428_133133430delinsCAA | CA1821104858 | TG | c.7998-42_7998-40delinsCAA (n.7998-42_7998-40delinsCAA) c.3364-42_3364-40delinsCAA c.2397-42_2397-40delinsCAA (n.2397-42_2397-40delinsCAA) c.210-42_210-40delinsCAA (n.210-42_210-40delinsCAA) n.42_44delinsCAA c.4653-42_4653-40delinsCAA c.7806-42_7806-40delinsCAA (n.7806-42_7806-40delinsCAA) c.7935-42_7935-40delinsCAA (n.7935-42_7935-40delinsCAA) c.7932-42_7932-40delinsCAA (n.7932-42_7932-40delinsCAA) c.7863-42_7863-40delinsCAA (n.7863-42_7863-40delinsCAA) c.7827-42_7827-40delinsCAA (n.7827-42_7827-40delinsCAA) c.7779-42_7779-40delinsCAA (n.7779-42_7779-40delinsCAA) c.7737-42_7737-40delinsCAA (n.7737-42_7737-40delinsCAA) | |
8 | g.133133430_133133431del | CA4885867 | TG | c.7998-40_7998-39del (n.7998-40_7998-39del) c.3364-40_3364-39del c.2397-40_2397-39del (n.2397-40_2397-39del) c.210-40_210-39del (n.210-40_210-39del) n.44_45del c.4653-40_4653-39del c.7806-40_7806-39del (n.7806-40_7806-39del) c.7935-40_7935-39del (n.7935-40_7935-39del) c.7932-40_7932-39del (n.7932-40_7932-39del) c.7863-40_7863-39del (n.7863-40_7863-39del) c.7827-40_7827-39del (n.7827-40_7827-39del) c.7779-40_7779-39del (n.7779-40_7779-39del) c.7737-40_7737-39del (n.7737-40_7737-39del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.133133430A>G | CA2688665261 | TG | c.7998-40A>G (n.7998-40A>G) c.3364-40A>G c.2397-40A>G (n.2397-40A>G) c.210-40A>G (n.210-40A>G) n.44A>G c.4653-40A>G c.7806-40A>G (n.7806-40A>G) c.7935-40A>G (n.7935-40A>G) c.7932-40A>G (n.7932-40A>G) c.7863-40A>G (n.7863-40A>G) c.7827-40A>G (n.7827-40A>G) c.7779-40A>G (n.7779-40A>G) c.7737-40A>G (n.7737-40A>G) | gnomAD v4 |
8 | g.133133432T>C | CA1821104860 | TG | c.7998-38T>C (n.7998-38T>C) c.3364-38T>C c.2397-38T>C (n.2397-38T>C) c.210-38T>C (n.210-38T>C) n.46T>C c.4653-38T>C c.7806-38T>C (n.7806-38T>C) c.7935-38T>C (n.7935-38T>C) c.7932-38T>C (n.7932-38T>C) c.7863-38T>C (n.7863-38T>C) c.7827-38T>C (n.7827-38T>C) c.7779-38T>C (n.7779-38T>C) c.7737-38T>C (n.7737-38T>C) | dbSNP |
8 | g.133133432T= | CA1821104861 | TG | c.7998-38T= (n.7998-38T=) c.3364-38T= c.2397-38T= (n.2397-38T=) c.210-38T= (n.210-38T=) n.46T= c.4653-38T= c.7806-38T= (n.7806-38T=) c.7935-38T= (n.7935-38T=) c.7932-38T= (n.7932-38T=) c.7863-38T= (n.7863-38T=) c.7827-38T= (n.7827-38T=) c.7779-38T= (n.7779-38T=) c.7737-38T= (n.7737-38T=) | |
8 | g.133133435C= | CA1821104862 | TG | c.7998-35C= (n.7998-35C=) c.3364-35C= c.2397-35C= (n.2397-35C=) c.210-35C= (n.210-35C=) n.49C= c.4653-35C= c.7806-35C= (n.7806-35C=) c.7935-35C= (n.7935-35C=) c.7932-35C= (n.7932-35C=) c.7863-35C= (n.7863-35C=) c.7827-35C= (n.7827-35C=) c.7779-35C= (n.7779-35C=) c.7737-35C= (n.7737-35C=) | |
8 | g.133133435C>T | CA4885868 | TG | c.7998-35C>T (n.7998-35C>T) c.3364-35C>T c.2397-35C>T (n.2397-35C>T) c.210-35C>T (n.210-35C>T) n.49C>T c.4653-35C>T c.7806-35C>T (n.7806-35C>T) c.7935-35C>T (n.7935-35C>T) c.7932-35C>T (n.7932-35C>T) c.7863-35C>T (n.7863-35C>T) c.7827-35C>T (n.7827-35C>T) c.7779-35C>T (n.7779-35C>T) c.7737-35C>T (n.7737-35C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.133133436C>T | CA2688665262 | TG | c.7998-34C>T (n.7998-34C>T) c.3364-34C>T c.2397-34C>T (n.2397-34C>T) c.210-34C>T (n.210-34C>T) n.50C>T c.4653-34C>T c.7806-34C>T (n.7806-34C>T) c.7935-34C>T (n.7935-34C>T) c.7932-34C>T (n.7932-34C>T) c.7863-34C>T (n.7863-34C>T) c.7827-34C>T (n.7827-34C>T) c.7779-34C>T (n.7779-34C>T) c.7737-34C>T (n.7737-34C>T) | gnomAD v4 |
8 | g.133133437C>A | CA2688665263 | TG | c.7998-33C>A (n.7998-33C>A) c.3364-33C>A c.2397-33C>A (n.2397-33C>A) c.210-33C>A (n.210-33C>A) n.51C>A c.4653-33C>A c.7806-33C>A (n.7806-33C>A) c.7935-33C>A (n.7935-33C>A) c.7932-33C>A (n.7932-33C>A) c.7863-33C>A (n.7863-33C>A) c.7827-33C>A (n.7827-33C>A) c.7779-33C>A (n.7779-33C>A) c.7737-33C>A (n.7737-33C>A) | gnomAD v4 |
8 | g.133133437C= | CA1821104863 | TG | c.7998-33C= (n.7998-33C=) c.3364-33C= c.2397-33C= (n.2397-33C=) c.210-33C= (n.210-33C=) n.51C= c.4653-33C= c.7806-33C= (n.7806-33C=) c.7935-33C= (n.7935-33C=) c.7932-33C= (n.7932-33C=) c.7863-33C= (n.7863-33C=) c.7827-33C= (n.7827-33C=) c.7779-33C= (n.7779-33C=) c.7737-33C= (n.7737-33C=) | |
8 | g.133133437C>T | CA1821104864 | TG | c.7998-33C>T (n.7998-33C>T) c.3364-33C>T c.2397-33C>T (n.2397-33C>T) c.210-33C>T (n.210-33C>T) n.51C>T c.4653-33C>T c.7806-33C>T (n.7806-33C>T) c.7935-33C>T (n.7935-33C>T) c.7932-33C>T (n.7932-33C>T) c.7863-33C>T (n.7863-33C>T) c.7827-33C>T (n.7827-33C>T) c.7779-33C>T (n.7779-33C>T) c.7737-33C>T (n.7737-33C>T) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.133133438T>C | CA2688665264 | TG | c.7998-32T>C (n.7998-32T>C) c.3364-32T>C c.2397-32T>C (n.2397-32T>C) c.210-32T>C (n.210-32T>C) n.52T>C c.4653-32T>C c.7806-32T>C (n.7806-32T>C) c.7935-32T>C (n.7935-32T>C) c.7932-32T>C (n.7932-32T>C) c.7863-32T>C (n.7863-32T>C) c.7827-32T>C (n.7827-32T>C) c.7779-32T>C (n.7779-32T>C) c.7737-32T>C (n.7737-32T>C) | gnomAD v4 |
8 | g.133133439C>A | CA2688665265 | TG | c.7998-31C>A (n.7998-31C>A) c.3364-31C>A c.2397-31C>A (n.2397-31C>A) c.210-31C>A (n.210-31C>A) n.53C>A c.4653-31C>A c.7806-31C>A (n.7806-31C>A) c.7935-31C>A (n.7935-31C>A) c.7932-31C>A (n.7932-31C>A) c.7863-31C>A (n.7863-31C>A) c.7827-31C>A (n.7827-31C>A) c.7779-31C>A (n.7779-31C>A) c.7737-31C>A (n.7737-31C>A) | gnomAD v4 |
8 | g.133133439C>T | CA2688665266 | TG | c.7998-31C>T (n.7998-31C>T) c.3364-31C>T c.2397-31C>T (n.2397-31C>T) c.210-31C>T (n.210-31C>T) n.53C>T c.4653-31C>T c.7806-31C>T (n.7806-31C>T) c.7935-31C>T (n.7935-31C>T) c.7932-31C>T (n.7932-31C>T) c.7863-31C>T (n.7863-31C>T) c.7827-31C>T (n.7827-31C>T) c.7779-31C>T (n.7779-31C>T) c.7737-31C>T (n.7737-31C>T) | gnomAD v4 |
8 | g.133133440A>C | CA2688665267 | TG | c.7998-30A>C (n.7998-30A>C) c.3364-30A>C c.2397-30A>C (n.2397-30A>C) c.210-30A>C (n.210-30A>C) n.54A>C c.4653-30A>C c.7806-30A>C (n.7806-30A>C) c.7935-30A>C (n.7935-30A>C) c.7932-30A>C (n.7932-30A>C) c.7863-30A>C (n.7863-30A>C) c.7827-30A>C (n.7827-30A>C) c.7779-30A>C (n.7779-30A>C) c.7737-30A>C (n.7737-30A>C) | gnomAD v4 |
8 | g.133133440A>G | CA2579255372 | TG | c.7998-30A>G (n.7998-30A>G) c.3364-30A>G c.2397-30A>G (n.2397-30A>G) c.210-30A>G (n.210-30A>G) n.54A>G c.4653-30A>G c.7806-30A>G (n.7806-30A>G) c.7935-30A>G (n.7935-30A>G) c.7932-30A>G (n.7932-30A>G) c.7863-30A>G (n.7863-30A>G) c.7827-30A>G (n.7827-30A>G) c.7779-30A>G (n.7779-30A>G) c.7737-30A>G (n.7737-30A>G) | gnomAD v4 |
8 | g.133133441T>C | CA4885869 | TG | c.7998-29T>C (n.7998-29T>C) c.3364-29T>C c.2397-29T>C (n.2397-29T>C) c.210-29T>C (n.210-29T>C) n.55T>C c.4653-29T>C c.7806-29T>C (n.7806-29T>C) c.7935-29T>C (n.7935-29T>C) c.7932-29T>C (n.7932-29T>C) c.7863-29T>C (n.7863-29T>C) c.7827-29T>C (n.7827-29T>C) c.7779-29T>C (n.7779-29T>C) c.7737-29T>C (n.7737-29T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.133133441T= | CA1821104865 | TG | c.7998-29T= (n.7998-29T=) c.3364-29T= c.2397-29T= (n.2397-29T=) c.210-29T= (n.210-29T=) n.55T= c.4653-29T= c.7806-29T= (n.7806-29T=) c.7935-29T= (n.7935-29T=) c.7932-29T= (n.7932-29T=) c.7863-29T= (n.7863-29T=) c.7827-29T= (n.7827-29T=) c.7779-29T= (n.7779-29T=) c.7737-29T= (n.7737-29T=) | |
8 | g.133133442G>A | CA585277879 | TG | c.7998-28G>A (n.7998-28G>A) c.3364-28G>A c.2397-28G>A (n.2397-28G>A) c.210-28G>A (n.210-28G>A) n.56G>A c.4653-28G>A c.7806-28G>A (n.7806-28G>A) c.7935-28G>A (n.7935-28G>A) c.7932-28G>A (n.7932-28G>A) c.7863-28G>A (n.7863-28G>A) c.7827-28G>A (n.7827-28G>A) c.7779-28G>A (n.7779-28G>A) c.7737-28G>A (n.7737-28G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.133133442G= | CA1821104866 | TG | c.7998-28G= (n.7998-28G=) c.3364-28G= c.2397-28G= (n.2397-28G=) c.210-28G= (n.210-28G=) n.56G= c.4653-28G= c.7806-28G= (n.7806-28G=) c.7935-28G= (n.7935-28G=) c.7932-28G= (n.7932-28G=) c.7863-28G= (n.7863-28G=) c.7827-28G= (n.7827-28G=) c.7779-28G= (n.7779-28G=) c.7737-28G= (n.7737-28G=) | |
8 | g.133133444A= | CA1821104867 | TG | c.7998-26A= (n.7998-26A=) c.3364-26A= c.2397-26A= (n.2397-26A=) c.210-26A= (n.210-26A=) n.58A= c.4653-26A= c.7806-26A= (n.7806-26A=) c.7935-26A= (n.7935-26A=) c.7932-26A= (n.7932-26A=) c.7863-26A= (n.7863-26A=) c.7827-26A= (n.7827-26A=) c.7779-26A= (n.7779-26A=) c.7737-26A= (n.7737-26A=) | |
8 | g.133133444A>G | CA4885870 | TG | c.7998-26A>G (n.7998-26A>G) c.3364-26A>G c.2397-26A>G (n.2397-26A>G) c.210-26A>G (n.210-26A>G) n.58A>G c.4653-26A>G c.7806-26A>G (n.7806-26A>G) c.7935-26A>G (n.7935-26A>G) c.7932-26A>G (n.7932-26A>G) c.7863-26A>G (n.7863-26A>G) c.7827-26A>G (n.7827-26A>G) c.7779-26A>G (n.7779-26A>G) c.7737-26A>G (n.7737-26A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.133133446A= | CA1821104869 | TG | c.7998-24A= (n.7998-24A=) c.3364-24A= c.2397-24A= (n.2397-24A=) c.210-24A= (n.210-24A=) n.60A= c.4653-24A= c.7806-24A= (n.7806-24A=) c.7935-24A= (n.7935-24A=) c.7932-24A= (n.7932-24A=) c.7863-24A= (n.7863-24A=) c.7827-24A= (n.7827-24A=) c.7779-24A= (n.7779-24A=) c.7737-24A= (n.7737-24A=) | |
8 | g.133133446A>G | CA1821104870 | TG | c.7998-24A>G (n.7998-24A>G) c.3364-24A>G c.2397-24A>G (n.2397-24A>G) c.210-24A>G (n.210-24A>G) n.60A>G c.4653-24A>G c.7806-24A>G (n.7806-24A>G) c.7935-24A>G (n.7935-24A>G) c.7932-24A>G (n.7932-24A>G) c.7863-24A>G (n.7863-24A>G) c.7827-24A>G (n.7827-24A>G) c.7779-24A>G (n.7779-24A>G) c.7737-24A>G (n.7737-24A>G) | dbSNP gnomAD v4 |
8 | g.133133446_133133450delinsATTTC | CA1821104868 | TG | c.7998-24_7998-20delinsATTTC (n.7998-24_7998-20delinsATTTC) c.3364-24_3364-20delinsATTTC c.2397-24_2397-20delinsATTTC (n.2397-24_2397-20delinsATTTC) c.210-24_210-20delinsATTTC (n.210-24_210-20delinsATTTC) n.60_64delinsATTTC c.4653-24_4653-20delinsATTTC c.7806-24_7806-20delinsATTTC (n.7806-24_7806-20delinsATTTC) c.7935-24_7935-20delinsATTTC (n.7935-24_7935-20delinsATTTC) c.7932-24_7932-20delinsATTTC (n.7932-24_7932-20delinsATTTC) c.7863-24_7863-20delinsATTTC (n.7863-24_7863-20delinsATTTC) c.7827-24_7827-20delinsATTTC (n.7827-24_7827-20delinsATTTC) c.7779-24_7779-20delinsATTTC (n.7779-24_7779-20delinsATTTC) c.7737-24_7737-20delinsATTTC (n.7737-24_7737-20delinsATTTC) | |
8 | g.133133447T>A | CA4885871 | TG | c.7998-23T>A (n.7998-23T>A) c.3364-23T>A c.2397-23T>A (n.2397-23T>A) c.210-23T>A (n.210-23T>A) n.61T>A c.4653-23T>A c.7806-23T>A (n.7806-23T>A) c.7935-23T>A (n.7935-23T>A) c.7932-23T>A (n.7932-23T>A) c.7863-23T>A (n.7863-23T>A) c.7827-23T>A (n.7827-23T>A) c.7779-23T>A (n.7779-23T>A) c.7737-23T>A (n.7737-23T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.133133447T= | CA1821104871 | TG | c.7998-23T= (n.7998-23T=) c.3364-23T= c.2397-23T= (n.2397-23T=) c.210-23T= (n.210-23T=) n.61T= c.4653-23T= c.7806-23T= (n.7806-23T=) c.7935-23T= (n.7935-23T=) c.7932-23T= (n.7932-23T=) c.7863-23T= (n.7863-23T=) c.7827-23T= (n.7827-23T=) c.7779-23T= (n.7779-23T=) c.7737-23T= (n.7737-23T=) | |
8 | g.133133453_133133456del | CA372252945 | TG | c.7998-17_7998-14del (n.7998-17_7998-14del) c.3364-17_3364-14del c.2397-17_2397-14del (n.2397-17_2397-14del) c.210-17_210-14del (n.210-17_210-14del) n.67_70del c.4653-17_4653-14del c.7806-17_7806-14del (n.7806-17_7806-14del) c.7935-17_7935-14del (n.7935-17_7935-14del) c.7932-17_7932-14del (n.7932-17_7932-14del) c.7863-17_7863-14del (n.7863-17_7863-14del) c.7827-17_7827-14del (n.7827-17_7827-14del) c.7779-17_7779-14del (n.7779-17_7779-14del) c.7737-17_7737-14del (n.7737-17_7737-14del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.133133448T>C | CA2688665268 | TG | c.7998-22T>C (n.7998-22T>C) c.3364-22T>C c.2397-22T>C (n.2397-22T>C) c.210-22T>C (n.210-22T>C) n.62T>C c.4653-22T>C c.7806-22T>C (n.7806-22T>C) c.7935-22T>C (n.7935-22T>C) c.7932-22T>C (n.7932-22T>C) c.7863-22T>C (n.7863-22T>C) c.7827-22T>C (n.7827-22T>C) c.7779-22T>C (n.7779-22T>C) c.7737-22T>C (n.7737-22T>C) | gnomAD v4 |
8 | g.133133448T>G | CA2579255373 | TG | c.7998-22T>G (n.7998-22T>G) c.3364-22T>G c.2397-22T>G (n.2397-22T>G) c.210-22T>G (n.210-22T>G) n.62T>G c.4653-22T>G c.7806-22T>G (n.7806-22T>G) c.7935-22T>G (n.7935-22T>G) c.7932-22T>G (n.7932-22T>G) c.7863-22T>G (n.7863-22T>G) c.7827-22T>G (n.7827-22T>G) c.7779-22T>G (n.7779-22T>G) c.7737-22T>G (n.7737-22T>G) | |
8 | g.133133449T>C | CA4885872 | TG | c.7998-21T>C (n.7998-21T>C) c.3364-21T>C c.2397-21T>C (n.2397-21T>C) c.210-21T>C (n.210-21T>C) n.63T>C c.4653-21T>C c.7806-21T>C (n.7806-21T>C) c.7935-21T>C (n.7935-21T>C) c.7932-21T>C (n.7932-21T>C) c.7863-21T>C (n.7863-21T>C) c.7827-21T>C (n.7827-21T>C) c.7779-21T>C (n.7779-21T>C) c.7737-21T>C (n.7737-21T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.133133449T= | CA1821104872 | TG | c.7998-21T= (n.7998-21T=) c.3364-21T= c.2397-21T= (n.2397-21T=) c.210-21T= (n.210-21T=) n.63T= c.4653-21T= c.7806-21T= (n.7806-21T=) c.7935-21T= (n.7935-21T=) c.7932-21T= (n.7932-21T=) c.7863-21T= (n.7863-21T=) c.7827-21T= (n.7827-21T=) c.7779-21T= (n.7779-21T=) c.7737-21T= (n.7737-21T=) | |
8 | g.133133450C>A | CA585277880 | TG | c.7998-20C>A (n.7998-20C>A) c.3364-20C>A c.2397-20C>A (n.2397-20C>A) c.210-20C>A (n.210-20C>A) n.64C>A c.4653-20C>A c.7806-20C>A (n.7806-20C>A) c.7935-20C>A (n.7935-20C>A) c.7932-20C>A (n.7932-20C>A) c.7863-20C>A (n.7863-20C>A) c.7827-20C>A (n.7827-20C>A) c.7779-20C>A (n.7779-20C>A) c.7737-20C>A (n.7737-20C>A) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.133133450C= | CA1821104873 | TG | c.7998-20C= (n.7998-20C=) c.3364-20C= c.2397-20C= (n.2397-20C=) c.210-20C= (n.210-20C=) n.64C= c.4653-20C= c.7806-20C= (n.7806-20C=) c.7935-20C= (n.7935-20C=) c.7932-20C= (n.7932-20C=) c.7863-20C= (n.7863-20C=) c.7827-20C= (n.7827-20C=) c.7779-20C= (n.7779-20C=) c.7737-20C= (n.7737-20C=) | |
8 | g.133133451T>C | CA2688665269 | TG | c.7998-19T>C (n.7998-19T>C) c.3364-19T>C c.2397-19T>C (n.2397-19T>C) c.210-19T>C (n.210-19T>C) n.65T>C c.4653-19T>C c.7806-19T>C (n.7806-19T>C) c.7935-19T>C (n.7935-19T>C) c.7932-19T>C (n.7932-19T>C) c.7863-19T>C (n.7863-19T>C) c.7827-19T>C (n.7827-19T>C) c.7779-19T>C (n.7779-19T>C) c.7737-19T>C (n.7737-19T>C) | gnomAD v4 |
8 | g.133133453T>C | CA847740839 | TG | c.7998-17T>C (n.7998-17T>C) c.3364-17T>C c.2397-17T>C (n.2397-17T>C) c.210-17T>C (n.210-17T>C) n.67T>C c.4653-17T>C c.7806-17T>C (n.7806-17T>C) c.7935-17T>C (n.7935-17T>C) c.7932-17T>C (n.7932-17T>C) c.7863-17T>C (n.7863-17T>C) c.7827-17T>C (n.7827-17T>C) c.7779-17T>C (n.7779-17T>C) c.7737-17T>C (n.7737-17T>C) | dbSNP |
8 | g.133133453T= | CA1821104874 | TG | c.7998-17T= (n.7998-17T=) c.3364-17T= c.2397-17T= (n.2397-17T=) c.210-17T= (n.210-17T=) n.67T= c.4653-17T= c.7806-17T= (n.7806-17T=) c.7935-17T= (n.7935-17T=) c.7932-17T= (n.7932-17T=) c.7863-17T= (n.7863-17T=) c.7827-17T= (n.7827-17T=) c.7779-17T= (n.7779-17T=) c.7737-17T= (n.7737-17T=) | |
8 | g.133133454C>A | CA2688665270 | TG | c.7998-16C>A (n.7998-16C>A) c.3364-16C>A c.2397-16C>A (n.2397-16C>A) c.210-16C>A (n.210-16C>A) n.68C>A c.4653-16C>A c.7806-16C>A (n.7806-16C>A) c.7935-16C>A (n.7935-16C>A) c.7932-16C>A (n.7932-16C>A) c.7863-16C>A (n.7863-16C>A) c.7827-16C>A (n.7827-16C>A) c.7779-16C>A (n.7779-16C>A) c.7737-16C>A (n.7737-16C>A) | ClinVar gnomAD v4 |
8 | g.133133457C= | CA1821104875 | TG | c.7998-13C= (n.7998-13C=) c.3364-13C= c.2397-13C= (n.2397-13C=) c.210-13C= (n.210-13C=) n.71C= c.4653-13C= c.7806-13C= (n.7806-13C=) c.7935-13C= (n.7935-13C=) c.7932-13C= (n.7932-13C=) c.7863-13C= (n.7863-13C=) c.7827-13C= (n.7827-13C=) c.7779-13C= (n.7779-13C=) c.7737-13C= (n.7737-13C=) | |
8 | g.133133457C>G | CA1821104876 | TG | c.7998-13C>G (n.7998-13C>G) c.3364-13C>G c.2397-13C>G (n.2397-13C>G) c.210-13C>G (n.210-13C>G) n.71C>G c.4653-13C>G c.7806-13C>G (n.7806-13C>G) c.7935-13C>G (n.7935-13C>G) c.7932-13C>G (n.7932-13C>G) c.7863-13C>G (n.7863-13C>G) c.7827-13C>G (n.7827-13C>G) c.7779-13C>G (n.7779-13C>G) c.7737-13C>G (n.7737-13C>G) | dbSNP |
8 | g.133133459C= | CA1821104877 | TG | c.7998-11C= (n.7998-11C=) c.3364-11C= c.2397-11C= (n.2397-11C=) c.210-11C= (n.210-11C=) n.73C= c.4653-11C= c.7806-11C= (n.7806-11C=) c.7935-11C= (n.7935-11C=) c.7932-11C= (n.7932-11C=) c.7863-11C= (n.7863-11C=) c.7827-11C= (n.7827-11C=) c.7779-11C= (n.7779-11C=) c.7737-11C= (n.7737-11C=) | |
8 | g.133133459C>G | CA186356603 | TG | c.7998-11C>G (n.7998-11C>G) c.3364-11C>G c.2397-11C>G (n.2397-11C>G) c.210-11C>G (n.210-11C>G) n.73C>G c.4653-11C>G c.7806-11C>G (n.7806-11C>G) c.7935-11C>G (n.7935-11C>G) c.7932-11C>G (n.7932-11C>G) c.7863-11C>G (n.7863-11C>G) c.7827-11C>G (n.7827-11C>G) c.7779-11C>G (n.7779-11C>G) c.7737-11C>G (n.7737-11C>G) | dbSNP |
8 | g.133133459C>T | CA2688665271 | TG | c.7998-11C>T (n.7998-11C>T) c.3364-11C>T c.2397-11C>T (n.2397-11C>T) c.210-11C>T (n.210-11C>T) n.73C>T c.4653-11C>T c.7806-11C>T (n.7806-11C>T) c.7935-11C>T (n.7935-11C>T) c.7932-11C>T (n.7932-11C>T) c.7863-11C>T (n.7863-11C>T) c.7827-11C>T (n.7827-11C>T) c.7779-11C>T (n.7779-11C>T) c.7737-11C>T (n.7737-11C>T) | gnomAD v4 |
8 | g.133133462T>A | CA1821104879 | TG | c.7998-8T>A (n.7998-8T>A) c.3364-8T>A c.2397-8T>A (n.2397-8T>A) c.210-8T>A (n.210-8T>A) n.76T>A c.4653-8T>A c.7806-8T>A (n.7806-8T>A) c.7935-8T>A (n.7935-8T>A) c.7932-8T>A (n.7932-8T>A) c.7863-8T>A (n.7863-8T>A) c.7827-8T>A (n.7827-8T>A) c.7779-8T>A (n.7779-8T>A) c.7737-8T>A (n.7737-8T>A) | dbSNP |
8 | g.133133462T= | CA1821104878 | TG | c.7998-8T= (n.7998-8T=) c.3364-8T= c.2397-8T= (n.2397-8T=) c.210-8T= (n.210-8T=) n.76T= c.4653-8T= c.7806-8T= (n.7806-8T=) c.7935-8T= (n.7935-8T=) c.7932-8T= (n.7932-8T=) c.7863-8T= (n.7863-8T=) c.7827-8T= (n.7827-8T=) c.7779-8T= (n.7779-8T=) c.7737-8T= (n.7737-8T=) | |
8 | g.133133463T>C | CA2688665272 | TG | c.7998-7T>C (n.7998-7T>C) c.3364-7T>C c.2397-7T>C (n.2397-7T>C) c.210-7T>C (n.210-7T>C) n.77T>C c.4653-7T>C c.7806-7T>C (n.7806-7T>C) c.7935-7T>C (n.7935-7T>C) c.7932-7T>C (n.7932-7T>C) c.7863-7T>C (n.7863-7T>C) c.7827-7T>C (n.7827-7T>C) c.7779-7T>C (n.7779-7T>C) c.7737-7T>C (n.7737-7T>C) | gnomAD v4 |
8 | g.133133464G>T | CA2543422693 | TG | c.7998-6G>T (n.7998-6G>T) c.3364-6G>T c.2397-6G>T (n.2397-6G>T) c.210-6G>T (n.210-6G>T) n.78G>T c.4653-6G>T c.7806-6G>T (n.7806-6G>T) c.7935-6G>T (n.7935-6G>T) c.7932-6G>T (n.7932-6G>T) c.7863-6G>T (n.7863-6G>T) c.7827-6G>T (n.7827-6G>T) c.7779-6G>T (n.7779-6G>T) c.7737-6G>T (n.7737-6G>T) | |
8 | g.133133465C= | CA1821104880 | TG | c.7998-5C= (n.7998-5C=) c.3364-5C= c.2397-5C= (n.2397-5C=) c.210-5C= (n.210-5C=) n.79C= c.4653-5C= c.7806-5C= (n.7806-5C=) c.7935-5C= (n.7935-5C=) c.7932-5C= (n.7932-5C=) c.7863-5C= (n.7863-5C=) c.7827-5C= (n.7827-5C=) c.7779-5C= (n.7779-5C=) c.7737-5C= (n.7737-5C=) | |
8 | g.133133465C>T | CA847740842 | TG | c.7998-5C>T (n.7998-5C>T) c.3364-5C>T c.2397-5C>T (n.2397-5C>T) c.210-5C>T (n.210-5C>T) n.79C>T c.4653-5C>T c.7806-5C>T (n.7806-5C>T) c.7935-5C>T (n.7935-5C>T) c.7932-5C>T (n.7932-5C>T) c.7863-5C>T (n.7863-5C>T) c.7827-5C>T (n.7827-5C>T) c.7779-5C>T (n.7779-5C>T) c.7737-5C>T (n.7737-5C>T) | dbSNP |
8 | g.133133466C>G | CA2688665273 | TG | c.7998-4C>G (n.7998-4C>G) c.3364-4C>G c.2397-4C>G (n.2397-4C>G) c.210-4C>G (n.210-4C>G) n.80C>G c.4653-4C>G c.7806-4C>G (n.7806-4C>G) c.7935-4C>G (n.7935-4C>G) c.7932-4C>G (n.7932-4C>G) c.7863-4C>G (n.7863-4C>G) c.7827-4C>G (n.7827-4C>G) c.7779-4C>G (n.7779-4C>G) c.7737-4C>G (n.7737-4C>G) | gnomAD v4 |
8 | g.133133467C= | CA1821104881 | TG | c.7998-3C= (n.7998-3C=) c.3364-3C= c.2397-3C= (n.2397-3C=) c.210-3C= (n.210-3C=) n.81C= c.4653-3C= c.7806-3C= (n.7806-3C=) c.7935-3C= (n.7935-3C=) c.7932-3C= (n.7932-3C=) c.7863-3C= (n.7863-3C=) c.7827-3C= (n.7827-3C=) c.7779-3C= (n.7779-3C=) c.7737-3C= (n.7737-3C=) | |
8 | g.133133467C>G | CA1821104882 | TG | c.7998-3C>G (n.7998-3C>G) c.3364-3C>G c.2397-3C>G (n.2397-3C>G) c.210-3C>G (n.210-3C>G) n.81C>G c.4653-3C>G c.7806-3C>G (n.7806-3C>G) c.7935-3C>G (n.7935-3C>G) c.7932-3C>G (n.7932-3C>G) c.7863-3C>G (n.7863-3C>G) c.7827-3C>G (n.7827-3C>G) c.7779-3C>G (n.7779-3C>G) c.7737-3C>G (n.7737-3C>G) | dbSNP |
8 | g.133133467C>T | CA2688665274 | TG | c.7998-3C>T (n.7998-3C>T) c.3364-3C>T c.2397-3C>T (n.2397-3C>T) c.210-3C>T (n.210-3C>T) n.81C>T c.4653-3C>T c.7806-3C>T (n.7806-3C>T) c.7935-3C>T (n.7935-3C>T) c.7932-3C>T (n.7932-3C>T) c.7863-3C>T (n.7863-3C>T) c.7827-3C>T (n.7827-3C>T) c.7779-3C>T (n.7779-3C>T) c.7737-3C>T (n.7737-3C>T) | gnomAD v4 |
8 | g.133133468A>C | CA372252952 | TG | c.7998-2A>C (n.7998-2A>C) c.3364-2A>C c.2397-2A>C (n.2397-2A>C) c.210-2A>C (n.210-2A>C) n.82A>C c.4653-2A>C c.7806-2A>C (n.7806-2A>C) c.7935-2A>C (n.7935-2A>C) c.7932-2A>C (n.7932-2A>C) c.7863-2A>C (n.7863-2A>C) c.7827-2A>C (n.7827-2A>C) c.7779-2A>C (n.7779-2A>C) c.7737-2A>C (n.7737-2A>C) | |
8 | g.133133468A>G | CA372252949 | TG | c.7998-2A>G (n.7998-2A>G) c.3364-2A>G c.2397-2A>G (n.2397-2A>G) c.210-2A>G (n.210-2A>G) n.82A>G c.4653-2A>G c.7806-2A>G (n.7806-2A>G) c.7935-2A>G (n.7935-2A>G) c.7932-2A>G (n.7932-2A>G) c.7863-2A>G (n.7863-2A>G) c.7827-2A>G (n.7827-2A>G) c.7779-2A>G (n.7779-2A>G) c.7737-2A>G (n.7737-2A>G) | |
8 | g.133133468A>T | CA372252950 | TG | c.7998-2A>T (n.7998-2A>T) c.3364-2A>T c.2397-2A>T (n.2397-2A>T) c.210-2A>T (n.210-2A>T) n.82A>T c.4653-2A>T c.7806-2A>T (n.7806-2A>T) c.7935-2A>T (n.7935-2A>T) c.7932-2A>T (n.7932-2A>T) c.7863-2A>T (n.7863-2A>T) c.7827-2A>T (n.7827-2A>T) c.7779-2A>T (n.7779-2A>T) c.7737-2A>T (n.7737-2A>T) | |
8 | g.133133469G>A | CA372252955 | TG | c.7998-1G>A (n.7998-1G>A) c.3364-1G>A c.2397-1G>A (n.2397-1G>A) c.210-1G>A (n.210-1G>A) n.83G>A c.4653-1G>A c.7806-1G>A (n.7806-1G>A) c.7935-1G>A (n.7935-1G>A) c.7932-1G>A (n.7932-1G>A) c.7863-1G>A (n.7863-1G>A) c.7827-1G>A (n.7827-1G>A) c.7779-1G>A (n.7779-1G>A) c.7737-1G>A (n.7737-1G>A) | |
8 | g.133133469G>C | CA372252956 | TG | c.7998-1G>C (n.7998-1G>C) c.3364-1G>C c.2397-1G>C (n.2397-1G>C) c.210-1G>C (n.210-1G>C) n.83G>C c.4653-1G>C c.7806-1G>C (n.7806-1G>C) c.7935-1G>C (n.7935-1G>C) c.7932-1G>C (n.7932-1G>C) c.7863-1G>C (n.7863-1G>C) c.7827-1G>C (n.7827-1G>C) c.7779-1G>C (n.7779-1G>C) c.7737-1G>C (n.7737-1G>C) | |
8 | g.133133469G>T | CA372252958 | TG | c.7998-1G>T (n.7998-1G>T) c.3364-1G>T c.2397-1G>T (n.2397-1G>T) c.210-1G>T (n.210-1G>T) n.83G>T c.4653-1G>T c.7806-1G>T (n.7806-1G>T) c.7935-1G>T (n.7935-1G>T) c.7932-1G>T (n.7932-1G>T) c.7863-1G>T (n.7863-1G>T) c.7827-1G>T (n.7827-1G>T) c.7779-1G>T (n.7779-1G>T) c.7737-1G>T (n.7737-1G>T) | COSMIC |
8 | g.133133470A>C | CA372252960 | TG | c.7998A>C (p.Gly2666=) c.3364A>C c.2397A>C (p.Gly799=) c.210A>C (p.Arg70Ser) n.84A>C c.4653A>C c.7806A>C (p.Gly2602=) c.7935A>C (p.Gly2645=) c.7932A>C (p.Gly2644=) c.7863A>C (p.Arg2621Ser) c.7827A>C (p.Gly2609=) c.7779A>C (p.Gly2593=) c.7737A>C (p.Gly2579=) | |
8 | g.133133470A>G | CA463016976 | TG | c.7998A>G (p.Gly2666=) c.3364A>G c.2397A>G (p.Gly799=) c.210A>G (p.Arg70=) n.84A>G c.4653A>G c.7806A>G (p.Gly2602=) c.7935A>G (p.Gly2645=) c.7932A>G (p.Gly2644=) c.7863A>G (p.Arg2621=) c.7827A>G (p.Gly2609=) c.7779A>G (p.Gly2593=) c.7737A>G (p.Gly2579=) | |
8 | g.133133470A>T | CA372252962 | TG | c.7998A>T (p.Gly2666=) c.3364A>T c.2397A>T (p.Gly799=) c.210A>T (p.Arg70Ser) n.84A>T c.4653A>T c.7806A>T (p.Gly2602=) c.7935A>T (p.Gly2645=) c.7932A>T (p.Gly2644=) c.7863A>T (p.Arg2621Ser) c.7827A>T (p.Gly2609=) c.7779A>T (p.Gly2593=) c.7737A>T (p.Gly2579=) | |
8 | g.133133472del | CA2697550173 | TG | c.8000del (p.Asn2667IlefsTer?) c.3366del c.2399del (p.Asn800IlefsTer?) c.212del (p.Asn71IlefsTer?) n.86del c.4655del c.7808del (p.Asn2603IlefsTer?) c.7937del (p.Asn2646IlefsTer?) c.7934del (p.Asn2645IlefsTer?) c.7865del (p.Asn2622IlefsTer?) c.7829del (p.Asn2610IlefsTer?) c.7781del (p.Asn2594IlefsTer?) c.7739del (p.Asn2580IlefsTer?) | ClinVar |
8 | g.133133471A>C | CA372252964 | TG | c.7999A>C (p.Asn2667His) c.3365A>C c.2398A>C (p.Asn800His) c.211A>C (p.Asn71His) n.85A>C c.4654A>C c.7807A>C (p.Asn2603His) c.7936A>C (p.Asn2646His) c.7933A>C (p.Asn2645His) c.7864A>C (p.Asn2622His) c.7828A>C (p.Asn2610His) c.7780A>C (p.Asn2594His) c.7738A>C (p.Asn2580His) | |
8 | g.133133471A>G | CA372252968 | TG | c.7999A>G (p.Asn2667Asp) c.3365A>G c.2398A>G (p.Asn800Asp) c.211A>G (p.Asn71Asp) n.85A>G c.4654A>G c.7807A>G (p.Asn2603Asp) c.7936A>G (p.Asn2646Asp) c.7933A>G (p.Asn2645Asp) c.7864A>G (p.Asn2622Asp) c.7828A>G (p.Asn2610Asp) c.7780A>G (p.Asn2594Asp) c.7738A>G (p.Asn2580Asp) | |
8 | g.133133471A>T | CA372252966 | TG | c.7999A>T (p.Asn2667Tyr) c.3365A>T c.2398A>T (p.Asn800Tyr) c.211A>T (p.Asn71Tyr) n.85A>T c.4654A>T c.7807A>T (p.Asn2603Tyr) c.7936A>T (p.Asn2646Tyr) c.7933A>T (p.Asn2645Tyr) c.7864A>T (p.Asn2622Tyr) c.7828A>T (p.Asn2610Tyr) c.7780A>T (p.Asn2594Tyr) c.7738A>T (p.Asn2580Tyr) | |
8 | g.133133472A>C | CA372252970 | TG | c.8000A>C (p.Asn2667Thr) c.3366A>C c.2399A>C (p.Asn800Thr) c.212A>C (p.Asn71Thr) n.86A>C c.4655A>C c.7808A>C (p.Asn2603Thr) c.7937A>C (p.Asn2646Thr) c.7934A>C (p.Asn2645Thr) c.7865A>C (p.Asn2622Thr) c.7829A>C (p.Asn2610Thr) c.7781A>C (p.Asn2594Thr) c.7739A>C (p.Asn2580Thr) | |
8 | g.133133472A>G | CA372252972 | TG | c.8000A>G (p.Asn2667Ser) c.3366A>G c.2399A>G (p.Asn800Ser) c.212A>G (p.Asn71Ser) n.86A>G c.4655A>G c.7808A>G (p.Asn2603Ser) c.7937A>G (p.Asn2646Ser) c.7934A>G (p.Asn2645Ser) c.7865A>G (p.Asn2622Ser) c.7829A>G (p.Asn2610Ser) c.7781A>G (p.Asn2594Ser) c.7739A>G (p.Asn2580Ser) | |
8 | g.133133472A>T | CA372252974 | TG | c.8000A>T (p.Asn2667Ile) c.3366A>T c.2399A>T (p.Asn800Ile) c.212A>T (p.Asn71Ile) n.86A>T c.4655A>T c.7808A>T (p.Asn2603Ile) c.7937A>T (p.Asn2646Ile) c.7934A>T (p.Asn2645Ile) c.7865A>T (p.Asn2622Ile) c.7829A>T (p.Asn2610Ile) c.7781A>T (p.Asn2594Ile) c.7739A>T (p.Asn2580Ile) | |
8 | g.133133473T>A | CA372252976 | TG | c.8001T>A (p.Asn2667Lys) c.3367T>A c.2400T>A (p.Asn800Lys) c.213T>A (p.Asn71Lys) n.87T>A c.4656T>A c.7809T>A (p.Asn2603Lys) c.7938T>A (p.Asn2646Lys) c.7935T>A (p.Asn2645Lys) c.7866T>A (p.Asn2622Lys) c.7830T>A (p.Asn2610Lys) c.7782T>A (p.Asn2594Lys) c.7740T>A (p.Asn2580Lys) | |
8 | g.133133473T>C | CA463016977 | TG | c.8001T>C (p.Asn2667=) c.3367T>C c.2400T>C (p.Asn800=) c.213T>C (p.Asn71=) n.87T>C c.4656T>C c.7809T>C (p.Asn2603=) c.7938T>C (p.Asn2646=) c.7935T>C (p.Asn2645=) c.7866T>C (p.Asn2622=) c.7830T>C (p.Asn2610=) c.7782T>C (p.Asn2594=) c.7740T>C (p.Asn2580=) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.133133473T>G | CA372252978 | TG | c.8001T>G (p.Asn2667Lys) c.3367T>G c.2400T>G (p.Asn800Lys) c.213T>G (p.Asn71Lys) n.87T>G c.4656T>G c.7809T>G (p.Asn2603Lys) c.7938T>G (p.Asn2646Lys) c.7935T>G (p.Asn2645Lys) c.7866T>G (p.Asn2622Lys) c.7830T>G (p.Asn2610Lys) c.7782T>G (p.Asn2594Lys) c.7740T>G (p.Asn2580Lys) | |
8 | g.133133473T= | CA1821104883 | TG | c.8001T= (p.Asn2667=) c.3367T= c.2400T= (p.Asn800=) c.213T= (p.Asn71=) n.87T= c.4656T= c.7809T= (p.Asn2603=) c.7938T= (p.Asn2646=) c.7935T= (p.Asn2645=) c.7866T= (p.Asn2622=) c.7830T= (p.Asn2610=) c.7782T= (p.Asn2594=) c.7740T= (p.Asn2580=) | |
8 | g.133133474C>A | CA372252980 | TG | c.8002C>A (p.Pro2668Thr) c.3368C>A c.2401C>A (p.Pro801Thr) c.214C>A (p.Pro72Thr) n.88C>A c.4657C>A c.7810C>A (p.Pro2604Thr) c.7939C>A (p.Pro2647Thr) c.7936C>A (p.Pro2646Thr) c.7867C>A (p.Pro2623Thr) c.7831C>A (p.Pro2611Thr) c.7783C>A (p.Pro2595Thr) c.7741C>A (p.Pro2581Thr) | |
8 | g.133133474C>G | CA372252981 | TG | c.8002C>G (p.Pro2668Ala) c.3368C>G c.2401C>G (p.Pro801Ala) c.214C>G (p.Pro72Ala) n.88C>G c.4657C>G c.7810C>G (p.Pro2604Ala) c.7939C>G (p.Pro2647Ala) c.7936C>G (p.Pro2646Ala) c.7867C>G (p.Pro2623Ala) c.7831C>G (p.Pro2611Ala) c.7783C>G (p.Pro2595Ala) c.7741C>G (p.Pro2581Ala) | gnomAD v4 |
8 | g.133133474C>T | CA372252983 | TG | c.8002C>T (p.Pro2668Ser) c.3368C>T c.2401C>T (p.Pro801Ser) c.214C>T (p.Pro72Ser) n.88C>T c.4657C>T c.7810C>T (p.Pro2604Ser) c.7939C>T (p.Pro2647Ser) c.7936C>T (p.Pro2646Ser) c.7867C>T (p.Pro2623Ser) c.7831C>T (p.Pro2611Ser) c.7783C>T (p.Pro2595Ser) c.7741C>T (p.Pro2581Ser) | COSMIC |
8 | g.133133475C>A | CA372252986 | TG | c.8003C>A (p.Pro2668His) c.3369C>A c.2402C>A (p.Pro801His) c.215C>A (p.Pro72His) n.89C>A c.4658C>A c.7811C>A (p.Pro2604His) c.7940C>A (p.Pro2647His) c.7937C>A (p.Pro2646His) c.7868C>A (p.Pro2623His) c.7832C>A (p.Pro2611His) c.7784C>A (p.Pro2595His) c.7742C>A (p.Pro2581His) | |
8 | g.133133475C= | CA1821104884 | TG | c.8003C= (p.Pro2668=) c.3369C= c.2402C= (p.Pro801=) c.215C= (p.Pro72=) n.89C= c.4658C= c.7811C= (p.Pro2604=) c.7940C= (p.Pro2647=) c.7937C= (p.Pro2646=) c.7868C= (p.Pro2623=) c.7832C= (p.Pro2611=) c.7784C= (p.Pro2595=) c.7742C= (p.Pro2581=) | |
8 | g.133133475C>G | CA372252987 | TG | c.8003C>G (p.Pro2668Arg) c.3369C>G c.2402C>G (p.Pro801Arg) c.215C>G (p.Pro72Arg) n.89C>G c.4658C>G c.7811C>G (p.Pro2604Arg) c.7940C>G (p.Pro2647Arg) c.7937C>G (p.Pro2646Arg) c.7868C>G (p.Pro2623Arg) c.7832C>G (p.Pro2611Arg) c.7784C>G (p.Pro2595Arg) c.7742C>G (p.Pro2581Arg) | |
8 | g.133133475C>T | CA372252989 | TG | c.8003C>T (p.Pro2668Leu) c.3369C>T c.2402C>T (p.Pro801Leu) c.215C>T (p.Pro72Leu) n.89C>T c.4658C>T c.7811C>T (p.Pro2604Leu) c.7940C>T (p.Pro2647Leu) c.7937C>T (p.Pro2646Leu) c.7868C>T (p.Pro2623Leu) c.7832C>T (p.Pro2611Leu) c.7784C>T (p.Pro2595Leu) c.7742C>T (p.Pro2581Leu) | dbSNP |
8 | g.133133476C>A | CA463016983 | TG | c.8004C>A (p.Pro2668=) c.3370C>A c.2403C>A (p.Pro801=) c.216C>A (p.Pro72=) n.90C>A c.4659C>A c.7812C>A (p.Pro2604=) c.7941C>A (p.Pro2647=) c.7938C>A (p.Pro2646=) c.7869C>A (p.Pro2623=) c.7833C>A (p.Pro2611=) c.7785C>A (p.Pro2595=) c.7743C>A (p.Pro2581=) | gnomAD v4 |
8 | g.133133476C>G | CA463016982 | TG | c.8004C>G (p.Pro2668=) c.3370C>G c.2403C>G (p.Pro801=) c.216C>G (p.Pro72=) n.90C>G c.4659C>G c.7812C>G (p.Pro2604=) c.7941C>G (p.Pro2647=) c.7938C>G (p.Pro2646=) c.7869C>G (p.Pro2623=) c.7833C>G (p.Pro2611=) c.7785C>G (p.Pro2595=) c.7743C>G (p.Pro2581=) | |
8 | g.133133476C>T | CA463016981 | TG | c.8004C>T (p.Pro2668=) c.3370C>T c.2403C>T (p.Pro801=) c.216C>T (p.Pro72=) n.90C>T c.4659C>T c.7812C>T (p.Pro2604=) c.7941C>T (p.Pro2647=) c.7938C>T (p.Pro2646=) c.7869C>T (p.Pro2623=) c.7833C>T (p.Pro2611=) c.7785C>T (p.Pro2595=) c.7743C>T (p.Pro2581=) | |
8 | g.133133477A= | CA1821104885 | TG | c.8005A= (p.Asn2669=) c.3371A= c.2404A= (p.Asn802=) c.217A= (p.Asn73=) n.91A= c.4660A= c.7813A= (p.Asn2605=) c.7942A= (p.Asn2648=) c.7939A= (p.Asn2647=) c.7870A= (p.Asn2624=) c.7834A= (p.Asn2612=) c.7786A= (p.Asn2596=) c.7744A= (p.Asn2582=) | |
8 | g.133133477A>C | CA372252991 | TG | c.8005A>C (p.Asn2669His) c.3371A>C c.2404A>C (p.Asn802His) c.217A>C (p.Asn73His) n.91A>C c.4660A>C c.7813A>C (p.Asn2605His) c.7942A>C (p.Asn2648His) c.7939A>C (p.Asn2647His) c.7870A>C (p.Asn2624His) c.7834A>C (p.Asn2612His) c.7786A>C (p.Asn2596His) c.7744A>C (p.Asn2582His) | |
8 | g.133133477A>G | CA372252995 | TG | c.8005A>G (p.Asn2669Asp) c.3371A>G c.2404A>G (p.Asn802Asp) c.217A>G (p.Asn73Asp) n.91A>G c.4660A>G c.7813A>G (p.Asn2605Asp) c.7942A>G (p.Asn2648Asp) c.7939A>G (p.Asn2647Asp) c.7870A>G (p.Asn2624Asp) c.7834A>G (p.Asn2612Asp) c.7786A>G (p.Asn2596Asp) c.7744A>G (p.Asn2582Asp) | dbSNP |
8 | g.133133477A>T | CA372252993 | TG | c.8005A>T (p.Asn2669Tyr) c.3371A>T c.2404A>T (p.Asn802Tyr) c.217A>T (p.Asn73Tyr) n.91A>T c.4660A>T c.7813A>T (p.Asn2605Tyr) c.7942A>T (p.Asn2648Tyr) c.7939A>T (p.Asn2647Tyr) c.7870A>T (p.Asn2624Tyr) c.7834A>T (p.Asn2612Tyr) c.7786A>T (p.Asn2596Tyr) c.7744A>T (p.Asn2582Tyr) | |
8 | g.133133478A= | CA1821104886 | TG | c.8006A= (p.Asn2669=) c.3372A= c.2405A= (p.Asn802=) c.218A= (p.Asn73=) n.92A= c.4661A= c.7814A= (p.Asn2605=) c.7943A= (p.Asn2648=) c.7940A= (p.Asn2647=) c.7871A= (p.Asn2624=) c.7835A= (p.Asn2612=) c.7787A= (p.Asn2596=) c.7745A= (p.Asn2582=) | |
8 | g.133133478A>C | CA372252996 | TG | c.8006A>C (p.Asn2669Thr) c.3372A>C c.2405A>C (p.Asn802Thr) c.218A>C (p.Asn73Thr) n.92A>C c.4661A>C c.7814A>C (p.Asn2605Thr) c.7943A>C (p.Asn2648Thr) c.7940A>C (p.Asn2647Thr) c.7871A>C (p.Asn2624Thr) c.7835A>C (p.Asn2612Thr) c.7787A>C (p.Asn2596Thr) c.7745A>C (p.Asn2582Thr) | |
8 | g.133133478A>G | CA4885873 | TG | c.8006A>G (p.Asn2669Ser) c.3372A>G c.2405A>G (p.Asn802Ser) c.218A>G (p.Asn73Ser) n.92A>G c.4661A>G c.7814A>G (p.Asn2605Ser) c.7943A>G (p.Asn2648Ser) c.7940A>G (p.Asn2647Ser) c.7871A>G (p.Asn2624Ser) c.7835A>G (p.Asn2612Ser) c.7787A>G (p.Asn2596Ser) c.7745A>G (p.Asn2582Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.133133478A>T | CA372252998 | TG | c.8006A>T (p.Asn2669Ile) c.3372A>T c.2405A>T (p.Asn802Ile) c.218A>T (p.Asn73Ile) n.92A>T c.4661A>T c.7814A>T (p.Asn2605Ile) c.7943A>T (p.Asn2648Ile) c.7940A>T (p.Asn2647Ile) c.7871A>T (p.Asn2624Ile) c.7835A>T (p.Asn2612Ile) c.7787A>T (p.Asn2596Ile) c.7745A>T (p.Asn2582Ile) | gnomAD v4 |
8 | g.133133479C>A | CA372253001 | TG | c.8007C>A (p.Asn2669Lys) c.3373C>A c.2406C>A (p.Asn802Lys) c.219C>A (p.Asn73Lys) n.93C>A c.4662C>A c.7815C>A (p.Asn2605Lys) c.7944C>A (p.Asn2648Lys) c.7941C>A (p.Asn2647Lys) c.7872C>A (p.Asn2624Lys) c.7836C>A (p.Asn2612Lys) c.7788C>A (p.Asn2596Lys) c.7746C>A (p.Asn2582Lys) | |
8 | g.133133479C>G | CA372253003 | TG | c.8007C>G (p.Asn2669Lys) c.3373C>G c.2406C>G (p.Asn802Lys) c.219C>G (p.Asn73Lys) n.93C>G c.4662C>G c.7815C>G (p.Asn2605Lys) c.7944C>G (p.Asn2648Lys) c.7941C>G (p.Asn2647Lys) c.7872C>G (p.Asn2624Lys) c.7836C>G (p.Asn2612Lys) c.7788C>G (p.Asn2596Lys) c.7746C>G (p.Asn2582Lys) | |
8 | g.133133479C>T | CA463016988 | TG | c.8007C>T (p.Asn2669=) c.3373C>T c.2406C>T (p.Asn802=) c.219C>T (p.Asn73=) n.93C>T c.4662C>T c.7815C>T (p.Asn2605=) c.7944C>T (p.Asn2648=) c.7941C>T (p.Asn2647=) c.7872C>T (p.Asn2624=) c.7836C>T (p.Asn2612=) c.7788C>T (p.Asn2596=) c.7746C>T (p.Asn2582=) | gnomAD v4 |
8 | g.133133480T>A | CA4885874 | TG | c.8008T>A (p.Tyr2670Asn) c.3374T>A c.2407T>A (p.Tyr803Asn) c.220T>A (p.Tyr74Asn) n.94T>A c.4663T>A c.7816T>A (p.Tyr2606Asn) c.7945T>A (p.Tyr2649Asn) c.7942T>A (p.Tyr2648Asn) c.7873T>A (p.Tyr2625Asn) c.7837T>A (p.Tyr2613Asn) c.7789T>A (p.Tyr2597Asn) c.7747T>A (p.Tyr2583Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.133133480T>C | CA372253005 | TG | c.8008T>C (p.Tyr2670His) c.3374T>C c.2407T>C (p.Tyr803His) c.220T>C (p.Tyr74His) n.94T>C c.4663T>C c.7816T>C (p.Tyr2606His) c.7945T>C (p.Tyr2649His) c.7942T>C (p.Tyr2648His) c.7873T>C (p.Tyr2625His) c.7837T>C (p.Tyr2613His) c.7789T>C (p.Tyr2597His) c.7747T>C (p.Tyr2583His) | |
8 | g.133133480T>G | CA372253007 | TG | c.8008T>G (p.Tyr2670Asp) c.3374T>G c.2407T>G (p.Tyr803Asp) c.220T>G (p.Tyr74Asp) n.94T>G c.4663T>G c.7816T>G (p.Tyr2606Asp) c.7945T>G (p.Tyr2649Asp) c.7942T>G (p.Tyr2648Asp) c.7873T>G (p.Tyr2625Asp) c.7837T>G (p.Tyr2613Asp) c.7789T>G (p.Tyr2597Asp) c.7747T>G (p.Tyr2583Asp) | |
8 | g.133133480T= | CA1821104887 | TG | c.8008T= (p.Tyr2670=) c.3374T= c.2407T= (p.Tyr803=) c.220T= (p.Tyr74=) n.94T= c.4663T= c.7816T= (p.Tyr2606=) c.7945T= (p.Tyr2649=) c.7942T= (p.Tyr2648=) c.7873T= (p.Tyr2625=) c.7837T= (p.Tyr2613=) c.7789T= (p.Tyr2597=) c.7747T= (p.Tyr2583=) | |
8 | g.133133481A= | CA1821104888 | TG | c.8009A= (p.Tyr2670=) c.3375A= c.2408A= (p.Tyr803=) c.221A= (p.Tyr74=) n.95A= c.4664A= c.7817A= (p.Tyr2606=) c.7946A= (p.Tyr2649=) c.7943A= (p.Tyr2648=) c.7874A= (p.Tyr2625=) c.7838A= (p.Tyr2613=) c.7790A= (p.Tyr2597=) c.7748A= (p.Tyr2583=) | |
8 | g.133133481A>C | CA372253008 | TG | c.8009A>C (p.Tyr2670Ser) c.3375A>C c.2408A>C (p.Tyr803Ser) c.221A>C (p.Tyr74Ser) n.95A>C c.4664A>C c.7817A>C (p.Tyr2606Ser) c.7946A>C (p.Tyr2649Ser) c.7943A>C (p.Tyr2648Ser) c.7874A>C (p.Tyr2625Ser) c.7838A>C (p.Tyr2613Ser) c.7790A>C (p.Tyr2597Ser) c.7748A>C (p.Tyr2583Ser) | |
8 | g.133133481A>G | CA4885875 | TG | c.8009A>G (p.Tyr2670Cys) c.3375A>G c.2408A>G (p.Tyr803Cys) c.221A>G (p.Tyr74Cys) n.95A>G c.4664A>G c.7817A>G (p.Tyr2606Cys) c.7946A>G (p.Tyr2649Cys) c.7943A>G (p.Tyr2648Cys) c.7874A>G (p.Tyr2625Cys) c.7838A>G (p.Tyr2613Cys) c.7790A>G (p.Tyr2597Cys) c.7748A>G (p.Tyr2583Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.133133481A>T | CA372253010 | TG | c.8009A>T (p.Tyr2670Phe) c.3375A>T c.2408A>T (p.Tyr803Phe) c.221A>T (p.Tyr74Phe) n.95A>T c.4664A>T c.7817A>T (p.Tyr2606Phe) c.7946A>T (p.Tyr2649Phe) c.7943A>T (p.Tyr2648Phe) c.7874A>T (p.Tyr2625Phe) c.7838A>T (p.Tyr2613Phe) c.7790A>T (p.Tyr2597Phe) c.7748A>T (p.Tyr2583Phe) | |
8 | g.133133482C>A | CA372253012 | TG | c.8010C>A (p.Tyr2670Ter) c.3376C>A c.2409C>A (p.Tyr803Ter) c.222C>A (p.Tyr74Ter) n.96C>A c.4665C>A c.7818C>A (p.Tyr2606Ter) c.7947C>A (p.Tyr2649Ter) c.7944C>A (p.Tyr2648Ter) c.7875C>A (p.Tyr2625Ter) c.7839C>A (p.Tyr2613Ter) c.7791C>A (p.Tyr2597Ter) c.7749C>A (p.Tyr2583Ter) | ClinVar gnomAD v4 |
8 | g.133133482C= | CA1821104889 | TG | c.8010C= (p.Tyr2670=) c.3376C= c.2409C= (p.Tyr803=) c.222C= (p.Tyr74=) n.96C= c.4665C= c.7818C= (p.Tyr2606=) c.7947C= (p.Tyr2649=) c.7944C= (p.Tyr2648=) c.7875C= (p.Tyr2625=) c.7839C= (p.Tyr2613=) c.7791C= (p.Tyr2597=) c.7749C= (p.Tyr2583=) | |
8 | g.133133482C>G | CA372253014 | TG | c.8010C>G (p.Tyr2670Ter) c.3376C>G c.2409C>G (p.Tyr803Ter) c.222C>G (p.Tyr74Ter) n.96C>G c.4665C>G c.7818C>G (p.Tyr2606Ter) c.7947C>G (p.Tyr2649Ter) c.7944C>G (p.Tyr2648Ter) c.7875C>G (p.Tyr2625Ter) c.7839C>G (p.Tyr2613Ter) c.7791C>G (p.Tyr2597Ter) c.7749C>G (p.Tyr2583Ter) | |
8 | g.133133482C>T | CA463016990 | TG | c.8010C>T (p.Tyr2670=) c.3376C>T c.2409C>T (p.Tyr803=) c.222C>T (p.Tyr74=) n.96C>T c.4665C>T c.7818C>T (p.Tyr2606=) c.7947C>T (p.Tyr2649=) c.7944C>T (p.Tyr2648=) c.7875C>T (p.Tyr2625=) c.7839C>T (p.Tyr2613=) c.7791C>T (p.Tyr2597=) c.7749C>T (p.Tyr2583=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.133133484del | CA2579255374 | TG | c.8012del (p.Pro2671LeufsTer?) c.3378del c.2411del (p.Pro804LeufsTer?) c.224del (p.Pro75LeufsTer?) n.98del c.4667del c.7820del (p.Pro2607LeufsTer?) c.7949del (p.Pro2650LeufsTer?) c.7946del (p.Pro2649LeufsTer?) c.7877del (p.Pro2626LeufsTer?) c.7841del (p.Pro2614LeufsTer?) c.7793del (p.Pro2598LeufsTer?) c.7751del (p.Pro2584LeufsTer?) | |
8 | g.133133483C>A | CA372253016 | TG | c.8011C>A (p.Pro2671Thr) c.3377C>A c.2410C>A (p.Pro804Thr) c.223C>A (p.Pro75Thr) n.97C>A c.4666C>A c.7819C>A (p.Pro2607Thr) c.7948C>A (p.Pro2650Thr) c.7945C>A (p.Pro2649Thr) c.7876C>A (p.Pro2626Thr) c.7840C>A (p.Pro2614Thr) c.7792C>A (p.Pro2598Thr) c.7750C>A (p.Pro2584Thr) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.133133483C= | CA1821104890 | TG | c.8011C= (p.Pro2671=) c.3377C= c.2410C= (p.Pro804=) c.223C= (p.Pro75=) n.97C= c.4666C= c.7819C= (p.Pro2607=) c.7948C= (p.Pro2650=) c.7945C= (p.Pro2649=) c.7876C= (p.Pro2626=) c.7840C= (p.Pro2614=) c.7792C= (p.Pro2598=) c.7750C= (p.Pro2584=) | |
8 | g.133133483C>G | CA372253018 | TG | c.8011C>G (p.Pro2671Ala) c.3377C>G c.2410C>G (p.Pro804Ala) c.223C>G (p.Pro75Ala) n.97C>G c.4666C>G c.7819C>G (p.Pro2607Ala) c.7948C>G (p.Pro2650Ala) c.7945C>G (p.Pro2649Ala) c.7876C>G (p.Pro2626Ala) c.7840C>G (p.Pro2614Ala) c.7792C>G (p.Pro2598Ala) c.7750C>G (p.Pro2584Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.133133483C>T | CA4885876 | TG | c.8011C>T (p.Pro2671Ser) c.3377C>T c.2410C>T (p.Pro804Ser) c.223C>T (p.Pro75Ser) n.97C>T c.4666C>T c.7819C>T (p.Pro2607Ser) c.7948C>T (p.Pro2650Ser) c.7945C>T (p.Pro2649Ser) c.7876C>T (p.Pro2626Ser) c.7840C>T (p.Pro2614Ser) c.7792C>T (p.Pro2598Ser) c.7750C>T (p.Pro2584Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.133133484C>A | CA372253021 | TG | c.8012C>A (p.Pro2671His) c.3378C>A c.2411C>A (p.Pro804His) c.224C>A (p.Pro75His) n.98C>A c.4667C>A c.7820C>A (p.Pro2607His) c.7949C>A (p.Pro2650His) c.7946C>A (p.Pro2649His) c.7877C>A (p.Pro2626His) c.7841C>A (p.Pro2614His) c.7793C>A (p.Pro2598His) c.7751C>A (p.Pro2584His) | |
8 | g.133133484C>G | CA372253025 | TG | c.8012C>G (p.Pro2671Arg) c.3378C>G c.2411C>G (p.Pro804Arg) c.224C>G (p.Pro75Arg) n.98C>G c.4667C>G c.7820C>G (p.Pro2607Arg) c.7949C>G (p.Pro2650Arg) c.7946C>G (p.Pro2649Arg) c.7877C>G (p.Pro2626Arg) c.7841C>G (p.Pro2614Arg) c.7793C>G (p.Pro2598Arg) c.7751C>G (p.Pro2584Arg) | |
8 | g.133133484C>T | CA372253023 | TG | c.8012C>T (p.Pro2671Leu) c.3378C>T c.2411C>T (p.Pro804Leu) c.224C>T (p.Pro75Leu) n.98C>T c.4667C>T c.7820C>T (p.Pro2607Leu) c.7949C>T (p.Pro2650Leu) c.7946C>T (p.Pro2649Leu) c.7877C>T (p.Pro2626Leu) c.7841C>T (p.Pro2614Leu) c.7793C>T (p.Pro2598Leu) c.7751C>T (p.Pro2584Leu) | gnomAD v4 |
8 | g.133133485T>A | CA463016993 | TG | c.8013T>A (p.Pro2671=) c.3379T>A c.2412T>A (p.Pro804=) c.225T>A (p.Pro75=) n.99T>A c.4668T>A c.7821T>A (p.Pro2607=) c.7950T>A (p.Pro2650=) c.7947T>A (p.Pro2649=) c.7878T>A (p.Pro2626=) c.7842T>A (p.Pro2614=) c.7794T>A (p.Pro2598=) c.7752T>A (p.Pro2584=) | |
8 | g.133133485T>C | CA463016994 | TG | c.8013T>C (p.Pro2671=) c.3379T>C c.2412T>C (p.Pro804=) c.225T>C (p.Pro75=) n.99T>C c.4668T>C c.7821T>C (p.Pro2607=) c.7950T>C (p.Pro2650=) c.7947T>C (p.Pro2649=) c.7878T>C (p.Pro2626=) c.7842T>C (p.Pro2614=) c.7794T>C (p.Pro2598=) c.7752T>C (p.Pro2584=) | |
8 | g.133133485T>G | CA463016995 | TG | c.8013T>G (p.Pro2671=) c.3379T>G c.2412T>G (p.Pro804=) c.225T>G (p.Pro75=) n.99T>G c.4668T>G c.7821T>G (p.Pro2607=) c.7950T>G (p.Pro2650=) c.7947T>G (p.Pro2649=) c.7878T>G (p.Pro2626=) c.7842T>G (p.Pro2614=) c.7794T>G (p.Pro2598=) c.7752T>G (p.Pro2584=) | gnomAD v4 |
8 | g.133133486T>A | CA372253026 | TG | c.8014T>A (p.Tyr2672Asn) c.3380T>A c.2413T>A (p.Tyr805Asn) c.226T>A (p.Tyr76Asn) n.100T>A c.4669T>A c.7822T>A (p.Tyr2608Asn) c.7951T>A (p.Tyr2651Asn) c.7948T>A (p.Tyr2650Asn) c.7879T>A (p.Tyr2627Asn) c.7843T>A (p.Tyr2615Asn) c.7795T>A (p.Tyr2599Asn) c.7753T>A (p.Tyr2585Asn) | |
8 | g.133133486T>C | CA372253028 | TG | c.8014T>C (p.Tyr2672His) c.3380T>C c.2413T>C (p.Tyr805His) c.226T>C (p.Tyr76His) n.100T>C c.4669T>C c.7822T>C (p.Tyr2608His) c.7951T>C (p.Tyr2651His) c.7948T>C (p.Tyr2650His) c.7879T>C (p.Tyr2627His) c.7843T>C (p.Tyr2615His) c.7795T>C (p.Tyr2599His) c.7753T>C (p.Tyr2585His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.133133486T>G | CA372253030 | TG | c.8014T>G (p.Tyr2672Asp) c.3380T>G c.2413T>G (p.Tyr805Asp) c.226T>G (p.Tyr76Asp) n.100T>G c.4669T>G c.7822T>G (p.Tyr2608Asp) c.7951T>G (p.Tyr2651Asp) c.7948T>G (p.Tyr2650Asp) c.7879T>G (p.Tyr2627Asp) c.7843T>G (p.Tyr2615Asp) c.7795T>G (p.Tyr2599Asp) c.7753T>G (p.Tyr2585Asp) | |
8 | g.133133486T= | CA1821104891 | TG | c.8014T= (p.Tyr2672=) c.3380T= c.2413T= (p.Tyr805=) c.226T= (p.Tyr76=) n.100T= c.4669T= c.7822T= (p.Tyr2608=) c.7951T= (p.Tyr2651=) c.7948T= (p.Tyr2650=) c.7879T= (p.Tyr2627=) c.7843T= (p.Tyr2615=) c.7795T= (p.Tyr2599=) c.7753T= (p.Tyr2585=) | |
8 | g.133133487A>C | CA372253032 | TG | c.8015A>C (p.Tyr2672Ser) c.3381A>C c.2414A>C (p.Tyr805Ser) c.227A>C (p.Tyr76Ser) n.101A>C c.4670A>C c.7823A>C (p.Tyr2608Ser) c.7952A>C (p.Tyr2651Ser) c.7949A>C (p.Tyr2650Ser) c.7880A>C (p.Tyr2627Ser) c.7844A>C (p.Tyr2615Ser) c.7796A>C (p.Tyr2599Ser) c.7754A>C (p.Tyr2585Ser) | |
8 | g.133133487A>G | CA372253034 | TG | c.8015A>G (p.Tyr2672Cys) c.3381A>G c.2414A>G (p.Tyr805Cys) c.227A>G (p.Tyr76Cys) n.101A>G c.4670A>G c.7823A>G (p.Tyr2608Cys) c.7952A>G (p.Tyr2651Cys) c.7949A>G (p.Tyr2650Cys) c.7880A>G (p.Tyr2627Cys) c.7844A>G (p.Tyr2615Cys) c.7796A>G (p.Tyr2599Cys) c.7754A>G (p.Tyr2585Cys) | |
8 | g.133133487A>T | CA372253035 | TG | c.8015A>T (p.Tyr2672Phe) c.3381A>T c.2414A>T (p.Tyr805Phe) c.227A>T (p.Tyr76Phe) n.101A>T c.4670A>T c.7823A>T (p.Tyr2608Phe) c.7952A>T (p.Tyr2651Phe) c.7949A>T (p.Tyr2650Phe) c.7880A>T (p.Tyr2627Phe) c.7844A>T (p.Tyr2615Phe) c.7796A>T (p.Tyr2599Phe) c.7754A>T (p.Tyr2585Phe) | |
8 | g.133133488T>A | CA372253037 | TG | c.8016T>A (p.Tyr2672Ter) c.3382T>A c.2415T>A (p.Tyr805Ter) c.228T>A (p.Tyr76Ter) n.102T>A c.4671T>A c.7824T>A (p.Tyr2608Ter) c.7953T>A (p.Tyr2651Ter) c.7950T>A (p.Tyr2650Ter) c.7881T>A (p.Tyr2627Ter) c.7845T>A (p.Tyr2615Ter) c.7797T>A (p.Tyr2599Ter) c.7755T>A (p.Tyr2585Ter) | |
8 | g.133133488T>C | CA4885877 | TG | c.8016T>C (p.Tyr2672=) c.3382T>C c.2415T>C (p.Tyr805=) c.228T>C (p.Tyr76=) n.102T>C c.4671T>C c.7824T>C (p.Tyr2608=) c.7953T>C (p.Tyr2651=) c.7950T>C (p.Tyr2650=) c.7881T>C (p.Tyr2627=) c.7845T>C (p.Tyr2615=) c.7797T>C (p.Tyr2599=) c.7755T>C (p.Tyr2585=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.133133488T>G | CA372253040 | TG | c.8016T>G (p.Tyr2672Ter) c.3382T>G c.2415T>G (p.Tyr805Ter) c.228T>G (p.Tyr76Ter) n.102T>G c.4671T>G c.7824T>G (p.Tyr2608Ter) c.7953T>G (p.Tyr2651Ter) c.7950T>G (p.Tyr2650Ter) c.7881T>G (p.Tyr2627Ter) c.7845T>G (p.Tyr2615Ter) c.7797T>G (p.Tyr2599Ter) c.7755T>G (p.Tyr2585Ter) | gnomAD v4 |
8 | g.133133488T= | CA1821104892 | TG | c.8016T= (p.Tyr2672=) c.3382T= c.2415T= (p.Tyr805=) c.228T= (p.Tyr76=) n.102T= c.4671T= c.7824T= (p.Tyr2608=) c.7953T= (p.Tyr2651=) c.7950T= (p.Tyr2650=) c.7881T= (p.Tyr2627=) c.7845T= (p.Tyr2615=) c.7797T= (p.Tyr2599=) c.7755T= (p.Tyr2585=) | |
8 | g.133133489G>A | CA372253046 | TG | c.8017G>A (p.Glu2673Lys) c.3383G>A c.2416G>A (p.Glu806Lys) c.229G>A (p.Glu77Lys) n.103G>A c.4672G>A c.7825G>A (p.Glu2609Lys) c.7954G>A (p.Glu2652Lys) c.7951G>A (p.Glu2651Lys) c.7882G>A (p.Glu2628Lys) c.7846G>A (p.Glu2616Lys) c.7798G>A (p.Glu2600Lys) c.7756G>A (p.Glu2586Lys) | |
8 | g.133133489G>C | CA372253044 | TG | c.8017G>C (p.Glu2673Gln) c.3383G>C c.2416G>C (p.Glu806Gln) c.229G>C (p.Glu77Gln) n.103G>C c.4672G>C c.7825G>C (p.Glu2609Gln) c.7954G>C (p.Glu2652Gln) c.7951G>C (p.Glu2651Gln) c.7882G>C (p.Glu2628Gln) c.7846G>C (p.Glu2616Gln) c.7798G>C (p.Glu2600Gln) c.7756G>C (p.Glu2586Gln) | |
8 | g.133133489G>T | CA372253042 | TG | c.8017G>T (p.Glu2673Ter) c.3383G>T c.2416G>T (p.Glu806Ter) c.229G>T (p.Glu77Ter) n.103G>T c.4672G>T c.7825G>T (p.Glu2609Ter) c.7954G>T (p.Glu2652Ter) c.7951G>T (p.Glu2651Ter) c.7882G>T (p.Glu2628Ter) c.7846G>T (p.Glu2616Ter) c.7798G>T (p.Glu2600Ter) c.7756G>T (p.Glu2586Ter) | |
8 | g.133133490A>C | CA372253048 | TG | c.8018A>C (p.Glu2673Ala) c.3384A>C c.2417A>C (p.Glu806Ala) c.230A>C (p.Glu77Ala) n.104A>C c.4673A>C c.7826A>C (p.Glu2609Ala) c.7955A>C (p.Glu2652Ala) c.7952A>C (p.Glu2651Ala) c.7883A>C (p.Glu2628Ala) c.7847A>C (p.Glu2616Ala) c.7799A>C (p.Glu2600Ala) c.7757A>C (p.Glu2586Ala) | |
8 | g.133133490A>G | CA372253049 | TG | c.8018A>G (p.Glu2673Gly) c.3384A>G c.2417A>G (p.Glu806Gly) c.230A>G (p.Glu77Gly) n.104A>G c.4673A>G c.7826A>G (p.Glu2609Gly) c.7955A>G (p.Glu2652Gly) c.7952A>G (p.Glu2651Gly) c.7883A>G (p.Glu2628Gly) c.7847A>G (p.Glu2616Gly) c.7799A>G (p.Glu2600Gly) c.7757A>G (p.Glu2586Gly) | |
8 | g.133133490A>T | CA372253052 | TG | c.8018A>T (p.Glu2673Val) c.3384A>T c.2417A>T (p.Glu806Val) c.230A>T (p.Glu77Val) n.104A>T c.4673A>T c.7826A>T (p.Glu2609Val) c.7955A>T (p.Glu2652Val) c.7952A>T (p.Glu2651Val) c.7883A>T (p.Glu2628Val) c.7847A>T (p.Glu2616Val) c.7799A>T (p.Glu2600Val) c.7757A>T (p.Glu2586Val) | |
8 | g.133133491G>A | CA463017002 | TG | c.8019G>A (p.Glu2673=) c.3385G>A c.2418G>A (p.Glu806=) c.231G>A (p.Glu77=) n.105G>A c.4674G>A c.7827G>A (p.Glu2609=) c.7956G>A (p.Glu2652=) c.7953G>A (p.Glu2651=) c.7884G>A (p.Glu2628=) c.7848G>A (p.Glu2616=) c.7800G>A (p.Glu2600=) c.7758G>A (p.Glu2586=) | gnomAD v4 |
8 | g.133133491G>C | CA372253054 | TG | c.8019G>C (p.Glu2673Asp) c.3385G>C c.2418G>C (p.Glu806Asp) c.231G>C (p.Glu77Asp) n.105G>C c.4674G>C c.7827G>C (p.Glu2609Asp) c.7956G>C (p.Glu2652Asp) c.7953G>C (p.Glu2651Asp) c.7884G>C (p.Glu2628Asp) c.7848G>C (p.Glu2616Asp) c.7800G>C (p.Glu2600Asp) c.7758G>C (p.Glu2586Asp) | |
8 | g.133133491G>T | CA372253055 | TG | c.8019G>T (p.Glu2673Asp) c.3385G>T c.2418G>T (p.Glu806Asp) c.231G>T (p.Glu77Asp) n.105G>T c.4674G>T c.7827G>T (p.Glu2609Asp) c.7956G>T (p.Glu2652Asp) c.7953G>T (p.Glu2651Asp) c.7884G>T (p.Glu2628Asp) c.7848G>T (p.Glu2616Asp) c.7800G>T (p.Glu2600Asp) c.7758G>T (p.Glu2586Asp) | gnomAD v4 |
8 | g.133133492T>A | CA372253058 | TG | c.8020T>A (p.Phe2674Ile) c.3386T>A c.2419T>A (p.Phe807Ile) c.232T>A (p.Phe78Ile) n.106T>A c.4675T>A c.7828T>A (p.Phe2610Ile) c.7957T>A (p.Phe2653Ile) c.7954T>A (p.Phe2652Ile) c.7885T>A (p.Phe2629Ile) c.7849T>A (p.Phe2617Ile) c.7801T>A (p.Phe2601Ile) c.7759T>A (p.Phe2587Ile) | |
8 | g.133133492T>C | CA372253059 | TG | c.8020T>C (p.Phe2674Leu) c.3386T>C c.2419T>C (p.Phe807Leu) c.232T>C (p.Phe78Leu) n.106T>C c.4675T>C c.7828T>C (p.Phe2610Leu) c.7957T>C (p.Phe2653Leu) c.7954T>C (p.Phe2652Leu) c.7885T>C (p.Phe2629Leu) c.7849T>C (p.Phe2617Leu) c.7801T>C (p.Phe2601Leu) c.7759T>C (p.Phe2587Leu) | COSMIC |
8 | g.133133492T>G | CA372253061 | TG | c.8020T>G (p.Phe2674Val) c.3386T>G c.2419T>G (p.Phe807Val) c.232T>G (p.Phe78Val) n.106T>G c.4675T>G c.7828T>G (p.Phe2610Val) c.7957T>G (p.Phe2653Val) c.7954T>G (p.Phe2652Val) c.7885T>G (p.Phe2629Val) c.7849T>G (p.Phe2617Val) c.7801T>G (p.Phe2601Val) c.7759T>G (p.Phe2587Val) | |
8 | g.133133493T>A | CA372253063 | TG | c.8021T>A (p.Phe2674Tyr) c.3387T>A c.2420T>A (p.Phe807Tyr) c.233T>A (p.Phe78Tyr) n.107T>A c.4676T>A c.7829T>A (p.Phe2610Tyr) c.7958T>A (p.Phe2653Tyr) c.7955T>A (p.Phe2652Tyr) c.7886T>A (p.Phe2629Tyr) c.7850T>A (p.Phe2617Tyr) c.7802T>A (p.Phe2601Tyr) c.7760T>A (p.Phe2587Tyr) | |
8 | g.133133493T>C | CA372253065 | TG | c.8021T>C (p.Phe2674Ser) c.3387T>C c.2420T>C (p.Phe807Ser) c.233T>C (p.Phe78Ser) n.107T>C c.4676T>C c.7829T>C (p.Phe2610Ser) c.7958T>C (p.Phe2653Ser) c.7955T>C (p.Phe2652Ser) c.7886T>C (p.Phe2629Ser) c.7850T>C (p.Phe2617Ser) c.7802T>C (p.Phe2601Ser) c.7760T>C (p.Phe2587Ser) | |
8 | g.133133493T>G | CA372253067 | TG | c.8021T>G (p.Phe2674Cys) c.3387T>G c.2420T>G (p.Phe807Cys) c.233T>G (p.Phe78Cys) n.107T>G c.4676T>G c.7829T>G (p.Phe2610Cys) c.7958T>G (p.Phe2653Cys) c.7955T>G (p.Phe2652Cys) c.7886T>G (p.Phe2629Cys) c.7850T>G (p.Phe2617Cys) c.7802T>G (p.Phe2601Cys) c.7760T>G (p.Phe2587Cys) | |
8 | g.133133494C>A | CA372253068 | TG | c.8022C>A (p.Phe2674Leu) c.3388C>A c.2421C>A (p.Phe807Leu) c.234C>A (p.Phe78Leu) n.108C>A c.4677C>A c.7830C>A (p.Phe2610Leu) c.7959C>A (p.Phe2653Leu) c.7956C>A (p.Phe2652Leu) c.7887C>A (p.Phe2629Leu) c.7851C>A (p.Phe2617Leu) c.7803C>A (p.Phe2601Leu) c.7761C>A (p.Phe2587Leu) | |
8 | g.133133494C>G | CA372253069 | TG | c.8022C>G (p.Phe2674Leu) c.3388C>G c.2421C>G (p.Phe807Leu) c.234C>G (p.Phe78Leu) n.108C>G c.4677C>G c.7830C>G (p.Phe2610Leu) c.7959C>G (p.Phe2653Leu) c.7956C>G (p.Phe2652Leu) c.7887C>G (p.Phe2629Leu) c.7851C>G (p.Phe2617Leu) c.7803C>G (p.Phe2601Leu) c.7761C>G (p.Phe2587Leu) | |
8 | g.133133494C>T | CA463017009 | TG | c.8022C>T (p.Phe2674=) c.3388C>T c.2421C>T (p.Phe807=) c.234C>T (p.Phe78=) n.108C>T c.4677C>T c.7830C>T (p.Phe2610=) c.7959C>T (p.Phe2653=) c.7956C>T (p.Phe2652=) c.7887C>T (p.Phe2629=) c.7851C>T (p.Phe2617=) c.7803C>T (p.Phe2601=) c.7761C>T (p.Phe2587=) | |
8 | g.133133495T>A | CA372253073 | TG | c.8023T>A (p.Ser2675Thr) c.3389T>A c.2422T>A (p.Ser808Thr) c.235T>A (p.Ser79Thr) n.109T>A c.4678T>A c.7831T>A (p.Ser2611Thr) c.7960T>A (p.Ser2654Thr) c.7957T>A (p.Ser2653Thr) c.7888T>A (p.Ser2630Thr) c.7852T>A (p.Ser2618Thr) c.7804T>A (p.Ser2602Thr) c.7762T>A (p.Ser2588Thr) | |
8 | g.133133495T>C | CA372253071 | TG | c.8023T>C (p.Ser2675Pro) c.3389T>C c.2422T>C (p.Ser808Pro) c.235T>C (p.Ser79Pro) n.109T>C c.4678T>C c.7831T>C (p.Ser2611Pro) c.7960T>C (p.Ser2654Pro) c.7957T>C (p.Ser2653Pro) c.7888T>C (p.Ser2630Pro) c.7852T>C (p.Ser2618Pro) c.7804T>C (p.Ser2602Pro) c.7762T>C (p.Ser2588Pro) | |
8 | g.133133495T>G | CA372253072 | TG | c.8023T>G (p.Ser2675Ala) c.3389T>G c.2422T>G (p.Ser808Ala) c.235T>G (p.Ser79Ala) n.109T>G c.4678T>G c.7831T>G (p.Ser2611Ala) c.7960T>G (p.Ser2654Ala) c.7957T>G (p.Ser2653Ala) c.7888T>G (p.Ser2630Ala) c.7852T>G (p.Ser2618Ala) c.7804T>G (p.Ser2602Ala) c.7762T>G (p.Ser2588Ala) | |
8 | g.133133496C>A | CA372253075 | TG | c.8024C>A (p.Ser2675Ter) c.3390C>A c.2423C>A (p.Ser808Ter) c.236C>A (p.Ser79Ter) n.110C>A c.4679C>A c.7832C>A (p.Ser2611Ter) c.7961C>A (p.Ser2654Ter) c.7958C>A (p.Ser2653Ter) c.7889C>A (p.Ser2630Ter) c.7853C>A (p.Ser2618Ter) c.7805C>A (p.Ser2602Ter) c.7763C>A (p.Ser2588Ter) | |
8 | g.133133496C>G | CA372253077 | TG | c.8024C>G (p.Ser2675Ter) c.3390C>G c.2423C>G (p.Ser808Ter) c.236C>G (p.Ser79Ter) n.110C>G c.4679C>G c.7832C>G (p.Ser2611Ter) c.7961C>G (p.Ser2654Ter) c.7958C>G (p.Ser2653Ter) c.7889C>G (p.Ser2630Ter) c.7853C>G (p.Ser2618Ter) c.7805C>G (p.Ser2602Ter) c.7763C>G (p.Ser2588Ter) | |
8 | g.133133496C>T | CA372253079 | TG | c.8024C>T (p.Ser2675Leu) c.3390C>T c.2423C>T (p.Ser808Leu) c.236C>T (p.Ser79Leu) n.110C>T c.4679C>T c.7832C>T (p.Ser2611Leu) c.7961C>T (p.Ser2654Leu) c.7958C>T (p.Ser2653Leu) c.7889C>T (p.Ser2630Leu) c.7853C>T (p.Ser2618Leu) c.7805C>T (p.Ser2602Leu) c.7763C>T (p.Ser2588Leu) | |
8 | g.133133497A>C | CA463017012 | TG | c.8025A>C (p.Ser2675=) c.3391A>C c.2424A>C (p.Ser808=) c.237A>C (p.Ser79=) n.111A>C c.4680A>C c.7833A>C (p.Ser2611=) c.7962A>C (p.Ser2654=) c.7959A>C (p.Ser2653=) c.7890A>C (p.Ser2630=) c.7854A>C (p.Ser2618=) c.7806A>C (p.Ser2602=) c.7764A>C (p.Ser2588=) | gnomAD v4 |
8 | g.133133497A>G | CA463017013 | TG | c.8025A>G (p.Ser2675=) c.3391A>G c.2424A>G (p.Ser808=) c.237A>G (p.Ser79=) n.111A>G c.4680A>G c.7833A>G (p.Ser2611=) c.7962A>G (p.Ser2654=) c.7959A>G (p.Ser2653=) c.7890A>G (p.Ser2630=) c.7854A>G (p.Ser2618=) c.7806A>G (p.Ser2602=) c.7764A>G (p.Ser2588=) | |
8 | g.133133497A>T | CA463017014 | TG | c.8025A>T (p.Ser2675=) c.3391A>T c.2424A>T (p.Ser808=) c.237A>T (p.Ser79=) n.111A>T c.4680A>T c.7833A>T (p.Ser2611=) c.7962A>T (p.Ser2654=) c.7959A>T (p.Ser2653=) c.7890A>T (p.Ser2630=) c.7854A>T (p.Ser2618=) c.7806A>T (p.Ser2602=) c.7764A>T (p.Ser2588=) | |
8 | g.133133498C>A | CA463017016 | TG | c.8026C>A (p.Arg2676=) c.3392C>A c.2425C>A (p.Arg809=) c.238C>A (p.Arg80=) n.112C>A c.4681C>A c.7834C>A (p.Arg2612=) c.7963C>A (p.Arg2655=) c.7960C>A (p.Arg2654=) c.7891C>A (p.Arg2631=) c.7855C>A (p.Arg2619=) c.7807C>A (p.Arg2603=) c.7765C>A (p.Arg2589=) | |
8 | g.133133498C= | CA1821104893 | TG | c.8026C= (p.Arg2676=) c.3392C= c.2425C= (p.Arg809=) c.238C= (p.Arg80=) n.112C= c.4681C= c.7834C= (p.Arg2612=) c.7963C= (p.Arg2655=) c.7960C= (p.Arg2654=) c.7891C= (p.Arg2631=) c.7855C= (p.Arg2619=) c.7807C= (p.Arg2603=) c.7765C= (p.Arg2589=) | |
8 | g.133133498C>G | CA372253081 | TG | c.8026C>G (p.Arg2676Gly) c.3392C>G c.2425C>G (p.Arg809Gly) c.238C>G (p.Arg80Gly) n.112C>G c.4681C>G c.7834C>G (p.Arg2612Gly) c.7963C>G (p.Arg2655Gly) c.7960C>G (p.Arg2654Gly) c.7891C>G (p.Arg2631Gly) c.7855C>G (p.Arg2619Gly) c.7807C>G (p.Arg2603Gly) c.7765C>G (p.Arg2589Gly) | gnomAD v4 |
8 | g.133133498C>T | CA4885878 | TG | c.8026C>T (p.Arg2676Trp) c.3392C>T c.2425C>T (p.Arg809Trp) c.238C>T (p.Arg80Trp) n.112C>T c.4681C>T c.7834C>T (p.Arg2612Trp) c.7963C>T (p.Arg2655Trp) c.7960C>T (p.Arg2654Trp) c.7891C>T (p.Arg2631Trp) c.7855C>T (p.Arg2619Trp) c.7807C>T (p.Arg2603Trp) c.7765C>T (p.Arg2589Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.133133499G>A | CA4885879 | TG | c.8027G>A (p.Arg2676Gln) c.3393G>A c.2426G>A (p.Arg809Gln) c.239G>A (p.Arg80Gln) n.113G>A c.4682G>A c.7835G>A (p.Arg2612Gln) c.7964G>A (p.Arg2655Gln) c.7961G>A (p.Arg2654Gln) c.7892G>A (p.Arg2631Gln) c.7856G>A (p.Arg2619Gln) c.7808G>A (p.Arg2603Gln) c.7766G>A (p.Arg2589Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.133133499G>C | CA372253084 | TG | c.8027G>C (p.Arg2676Pro) c.3393G>C c.2426G>C (p.Arg809Pro) c.239G>C (p.Arg80Pro) n.113G>C c.4682G>C c.7835G>C (p.Arg2612Pro) c.7964G>C (p.Arg2655Pro) c.7961G>C (p.Arg2654Pro) c.7892G>C (p.Arg2631Pro) c.7856G>C (p.Arg2619Pro) c.7808G>C (p.Arg2603Pro) c.7766G>C (p.Arg2589Pro) | |
8 | g.133133499G= | CA1821104894 | TG | c.8027G= (p.Arg2676=) c.3393G= c.2426G= (p.Arg809=) c.239G= (p.Arg80=) n.113G= c.4682G= c.7835G= (p.Arg2612=) c.7964G= (p.Arg2655=) c.7961G= (p.Arg2654=) c.7892G= (p.Arg2631=) c.7856G= (p.Arg2619=) c.7808G= (p.Arg2603=) c.7766G= (p.Arg2589=) | |
8 | g.133133499G>T | CA372253086 | TG | c.8027G>T (p.Arg2676Leu) c.3393G>T c.2426G>T (p.Arg809Leu) c.239G>T (p.Arg80Leu) n.113G>T c.4682G>T c.7835G>T (p.Arg2612Leu) c.7964G>T (p.Arg2655Leu) c.7961G>T (p.Arg2654Leu) c.7892G>T (p.Arg2631Leu) c.7856G>T (p.Arg2619Leu) c.7808G>T (p.Arg2603Leu) c.7766G>T (p.Arg2589Leu) | |
8 | g.133133500G>A | CA463017017 | TG | c.8028G>A (p.Arg2676=) c.3394G>A c.2427G>A (p.Arg809=) c.240G>A (p.Arg80=) n.114G>A c.4683G>A c.7836G>A (p.Arg2612=) c.7965G>A (p.Arg2655=) c.7962G>A (p.Arg2654=) c.7893G>A (p.Arg2631=) c.7857G>A (p.Arg2619=) c.7809G>A (p.Arg2603=) c.7767G>A (p.Arg2589=) | |
8 | g.133133500G>C | CA463017019 | TG | c.8028G>C (p.Arg2676=) c.3394G>C c.2427G>C (p.Arg809=) c.240G>C (p.Arg80=) n.114G>C c.4683G>C c.7836G>C (p.Arg2612=) c.7965G>C (p.Arg2655=) c.7962G>C (p.Arg2654=) c.7893G>C (p.Arg2631=) c.7857G>C (p.Arg2619=) c.7809G>C (p.Arg2603=) c.7767G>C (p.Arg2589=) | |
8 | g.133133500G>T | CA463017021 | TG | c.8028G>T (p.Arg2676=) c.3394G>T c.2427G>T (p.Arg809=) c.240G>T (p.Arg80=) n.114G>T c.4683G>T c.7836G>T (p.Arg2612=) c.7965G>T (p.Arg2655=) c.7962G>T (p.Arg2654=) c.7893G>T (p.Arg2631=) c.7857G>T (p.Arg2619=) c.7809G>T (p.Arg2603=) c.7767G>T (p.Arg2589=) | |
8 | g.133133501A= | CA1821104895 | TG | c.8029A= (p.Lys2677=) c.3395A= c.2428A= (p.Lys810=) c.241A= (p.Lys81=) n.115A= c.4684A= c.7837A= (p.Lys2613=) c.7966A= (p.Lys2656=) c.7963A= (p.Lys2655=) c.7894A= (p.Lys2632=) c.7858A= (p.Lys2620=) c.7810A= (p.Lys2604=) c.7768A= (p.Lys2590=) | |
8 | g.133133501A>C | CA4885880 | TG | c.8029A>C (p.Lys2677Gln) c.3395A>C c.2428A>C (p.Lys810Gln) c.241A>C (p.Lys81Gln) n.115A>C c.4684A>C c.7837A>C (p.Lys2613Gln) c.7966A>C (p.Lys2656Gln) c.7963A>C (p.Lys2655Gln) c.7894A>C (p.Lys2632Gln) c.7858A>C (p.Lys2620Gln) c.7810A>C (p.Lys2604Gln) c.7768A>C (p.Lys2590Gln) | dbSNP ExAC gnomAD v4 |
8 | g.133133501A>G | CA372253088 | TG | c.8029A>G (p.Lys2677Glu) c.3395A>G c.2428A>G (p.Lys810Glu) c.241A>G (p.Lys81Glu) n.115A>G c.4684A>G c.7837A>G (p.Lys2613Glu) c.7966A>G (p.Lys2656Glu) c.7963A>G (p.Lys2655Glu) c.7894A>G (p.Lys2632Glu) c.7858A>G (p.Lys2620Glu) c.7810A>G (p.Lys2604Glu) c.7768A>G (p.Lys2590Glu) | |
8 | g.133133501A>T | CA372253090 | TG | c.8029A>T (p.Lys2677Ter) c.3395A>T c.2428A>T (p.Lys810Ter) c.241A>T (p.Lys81Ter) n.115A>T c.4684A>T c.7837A>T (p.Lys2613Ter) c.7966A>T (p.Lys2656Ter) c.7963A>T (p.Lys2655Ter) c.7894A>T (p.Lys2632Ter) c.7858A>T (p.Lys2620Ter) c.7810A>T (p.Lys2604Ter) c.7768A>T (p.Lys2590Ter) | |
8 | g.133133502A>C | CA372253096 | TG | c.8030A>C (p.Lys2677Thr) c.3396A>C c.2429A>C (p.Lys810Thr) c.242A>C (p.Lys81Thr) n.116A>C c.4685A>C c.7838A>C (p.Lys2613Thr) c.7967A>C (p.Lys2656Thr) c.7964A>C (p.Lys2655Thr) c.7895A>C (p.Lys2632Thr) c.7859A>C (p.Lys2620Thr) c.7811A>C (p.Lys2604Thr) c.7769A>C (p.Lys2590Thr) | |
8 | g.133133502A>G | CA372253094 | TG | c.8030A>G (p.Lys2677Arg) c.3396A>G c.2429A>G (p.Lys810Arg) c.242A>G (p.Lys81Arg) n.116A>G c.4685A>G c.7838A>G (p.Lys2613Arg) c.7967A>G (p.Lys2656Arg) c.7964A>G (p.Lys2655Arg) c.7895A>G (p.Lys2632Arg) c.7859A>G (p.Lys2620Arg) c.7811A>G (p.Lys2604Arg) c.7769A>G (p.Lys2590Arg) | |
8 | g.133133502A>T | CA372253093 | TG | c.8030A>T (p.Lys2677Ile) c.3396A>T c.2429A>T (p.Lys810Ile) c.242A>T (p.Lys81Ile) n.116A>T c.4685A>T c.7838A>T (p.Lys2613Ile) c.7967A>T (p.Lys2656Ile) c.7964A>T (p.Lys2655Ile) c.7895A>T (p.Lys2632Ile) c.7859A>T (p.Lys2620Ile) c.7811A>T (p.Lys2604Ile) c.7769A>T (p.Lys2590Ile) | |
8 | g.133133503A= | CA1821104896 | TG | c.8031A= (p.Lys2677=) c.3397A= c.2430A= (p.Lys810=) c.243A= (p.Lys81=) n.117A= c.4686A= c.7839A= (p.Lys2613=) c.7968A= (p.Lys2656=) c.7965A= (p.Lys2655=) c.7896A= (p.Lys2632=) c.7860A= (p.Lys2620=) c.7812A= (p.Lys2604=) c.7770A= (p.Lys2590=) | |
8 | g.133133503A>C | CA372253097 | TG | c.8031A>C (p.Lys2677Asn) c.3397A>C c.2430A>C (p.Lys810Asn) c.243A>C (p.Lys81Asn) n.117A>C c.4686A>C c.7839A>C (p.Lys2613Asn) c.7968A>C (p.Lys2656Asn) c.7965A>C (p.Lys2655Asn) c.7896A>C (p.Lys2632Asn) c.7860A>C (p.Lys2620Asn) c.7812A>C (p.Lys2604Asn) c.7770A>C (p.Lys2590Asn) | |
8 | g.133133503A>G | CA463017028 | TG | c.8031A>G (p.Lys2677=) c.3397A>G c.2430A>G (p.Lys810=) c.243A>G (p.Lys81=) n.117A>G c.4686A>G c.7839A>G (p.Lys2613=) c.7968A>G (p.Lys2656=) c.7965A>G (p.Lys2655=) c.7896A>G (p.Lys2632=) c.7860A>G (p.Lys2620=) c.7812A>G (p.Lys2604=) c.7770A>G (p.Lys2590=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.133133503A>T | CA372253098 | TG | c.8031A>T (p.Lys2677Asn) c.3397A>T c.2430A>T (p.Lys810Asn) c.243A>T (p.Lys81Asn) n.117A>T c.4686A>T c.7839A>T (p.Lys2613Asn) c.7968A>T (p.Lys2656Asn) c.7965A>T (p.Lys2655Asn) c.7896A>T (p.Lys2632Asn) c.7860A>T (p.Lys2620Asn) c.7812A>T (p.Lys2604Asn) c.7770A>T (p.Lys2590Asn) | |
8 | g.133133504G>A | CA372253100 | TG | c.8032G>A (p.Val2678Ile) c.3398G>A c.2431G>A (p.Val811Ile) c.244G>A (p.Val82Ile) n.118G>A c.4687G>A c.7840G>A (p.Val2614Ile) c.7969G>A (p.Val2657Ile) c.7966G>A (p.Val2656Ile) c.7897G>A (p.Val2633Ile) c.7861G>A (p.Val2621Ile) c.7813G>A (p.Val2605Ile) c.7771G>A (p.Val2591Ile) | gnomAD v4 |
8 | g.133133504G>C | CA372253104 | TG | c.8032G>C (p.Val2678Leu) c.3398G>C c.2431G>C (p.Val811Leu) c.244G>C (p.Val82Leu) n.118G>C c.4687G>C c.7840G>C (p.Val2614Leu) c.7969G>C (p.Val2657Leu) c.7966G>C (p.Val2656Leu) c.7897G>C (p.Val2633Leu) c.7861G>C (p.Val2621Leu) c.7813G>C (p.Val2605Leu) c.7771G>C (p.Val2591Leu) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.133133504G= | CA1821104897 | TG | c.8032G= (p.Val2678=) c.3398G= c.2431G= (p.Val811=) c.244G= (p.Val82=) n.118G= c.4687G= c.7840G= (p.Val2614=) c.7969G= (p.Val2657=) c.7966G= (p.Val2656=) c.7897G= (p.Val2633=) c.7861G= (p.Val2621=) c.7813G= (p.Val2605=) c.7771G= (p.Val2591=) | |
8 | g.133133504G>T | CA372253102 | TG | c.8032G>T (p.Val2678Leu) c.3398G>T c.2431G>T (p.Val811Leu) c.244G>T (p.Val82Leu) n.118G>T c.4687G>T c.7840G>T (p.Val2614Leu) c.7969G>T (p.Val2657Leu) c.7966G>T (p.Val2656Leu) c.7897G>T (p.Val2633Leu) c.7861G>T (p.Val2621Leu) c.7813G>T (p.Val2605Leu) c.7771G>T (p.Val2591Leu) | |
8 | g.133133505T>A | CA372253105 | TG | c.8033T>A (p.Val2678Glu) c.3399T>A c.2432T>A (p.Val811Glu) c.245T>A (p.Val82Glu) n.119T>A c.4688T>A c.7841T>A (p.Val2614Glu) c.7970T>A (p.Val2657Glu) c.7967T>A (p.Val2656Glu) c.7898T>A (p.Val2633Glu) c.7862T>A (p.Val2621Glu) c.7814T>A (p.Val2605Glu) c.7772T>A (p.Val2591Glu) | |
8 | g.133133505T>C | CA372253109 | TG | c.8033T>C (p.Val2678Ala) c.3399T>C c.2432T>C (p.Val811Ala) c.245T>C (p.Val82Ala) n.119T>C c.4688T>C c.7841T>C (p.Val2614Ala) c.7970T>C (p.Val2657Ala) c.7967T>C (p.Val2656Ala) c.7898T>C (p.Val2633Ala) c.7862T>C (p.Val2621Ala) c.7814T>C (p.Val2605Ala) c.7772T>C (p.Val2591Ala) | dbSNP gnomAD v4 |
8 | g.133133505T>G | CA372253107 | TG | c.8033T>G (p.Val2678Gly) c.3399T>G c.2432T>G (p.Val811Gly) c.245T>G (p.Val82Gly) n.119T>G c.4688T>G c.7841T>G (p.Val2614Gly) c.7970T>G (p.Val2657Gly) c.7967T>G (p.Val2656Gly) c.7898T>G (p.Val2633Gly) c.7862T>G (p.Val2621Gly) c.7814T>G (p.Val2605Gly) c.7772T>G (p.Val2591Gly) | |
8 | g.133133505T= | CA1821104898 | TG | c.8033T= (p.Val2678=) c.3399T= c.2432T= (p.Val811=) c.245T= (p.Val82=) n.119T= c.4688T= c.7841T= (p.Val2614=) c.7970T= (p.Val2657=) c.7967T= (p.Val2656=) c.7898T= (p.Val2633=) c.7862T= (p.Val2621=) c.7814T= (p.Val2605=) c.7772T= (p.Val2591=) | |
8 | g.133133506A>C | CA463017030 | TG | c.8034A>C (p.Val2678=) c.3400A>C c.2433A>C (p.Val811=) c.246A>C (p.Val82=) n.120A>C c.4689A>C c.7842A>C (p.Val2614=) c.7971A>C (p.Val2657=) c.7968A>C (p.Val2656=) c.7899A>C (p.Val2633=) c.7863A>C (p.Val2621=) c.7815A>C (p.Val2605=) c.7773A>C (p.Val2591=) | |
8 | g.133133506A>G | CA463017031 | TG | c.8034A>G (p.Val2678=) c.3400A>G c.2433A>G (p.Val811=) c.246A>G (p.Val82=) n.120A>G c.4689A>G c.7842A>G (p.Val2614=) c.7971A>G (p.Val2657=) c.7968A>G (p.Val2656=) c.7899A>G (p.Val2633=) c.7863A>G (p.Val2621=) c.7815A>G (p.Val2605=) c.7773A>G (p.Val2591=) | |
8 | g.133133506A>T | CA463017032 | TG | c.8034A>T (p.Val2678=) c.3400A>T c.2433A>T (p.Val811=) c.246A>T (p.Val82=) n.120A>T c.4689A>T c.7842A>T (p.Val2614=) c.7971A>T (p.Val2657=) c.7968A>T (p.Val2656=) c.7899A>T (p.Val2633=) c.7863A>T (p.Val2621=) c.7815A>T (p.Val2605=) c.7773A>T (p.Val2591=) | |
8 | g.133133507C>A | CA372253112 | TG | c.8035C>A (p.Pro2679Thr) c.3401C>A c.2434C>A (p.Pro812Thr) c.247C>A (p.Pro83Thr) n.121C>A c.4690C>A c.7843C>A (p.Pro2615Thr) c.7972C>A (p.Pro2658Thr) c.7969C>A (p.Pro2657Thr) c.7900C>A (p.Pro2634Thr) c.7864C>A (p.Pro2622Thr) c.7816C>A (p.Pro2606Thr) c.7774C>A (p.Pro2592Thr) | |
8 | g.133133507C>G | CA372253113 | TG | c.8035C>G (p.Pro2679Ala) c.3401C>G c.2434C>G (p.Pro812Ala) c.247C>G (p.Pro83Ala) n.121C>G c.4690C>G c.7843C>G (p.Pro2615Ala) c.7972C>G (p.Pro2658Ala) c.7969C>G (p.Pro2657Ala) c.7900C>G (p.Pro2634Ala) c.7864C>G (p.Pro2622Ala) c.7816C>G (p.Pro2606Ala) c.7774C>G (p.Pro2592Ala) | |
8 | g.133133507C>T | CA372253115 | TG | c.8035C>T (p.Pro2679Ser) c.3401C>T c.2434C>T (p.Pro812Ser) c.247C>T (p.Pro83Ser) n.121C>T c.4690C>T c.7843C>T (p.Pro2615Ser) c.7972C>T (p.Pro2658Ser) c.7969C>T (p.Pro2657Ser) c.7900C>T (p.Pro2634Ser) c.7864C>T (p.Pro2622Ser) c.7816C>T (p.Pro2606Ser) c.7774C>T (p.Pro2592Ser) | |
8 | g.133133508C>A | CA372253117 | TG | c.8036C>A (p.Pro2679His) c.3402C>A c.2435C>A (p.Pro812His) c.248C>A (p.Pro83His) n.122C>A c.4691C>A c.7844C>A (p.Pro2615His) c.7973C>A (p.Pro2658His) c.7970C>A (p.Pro2657His) c.7901C>A (p.Pro2634His) c.7865C>A (p.Pro2622His) c.7817C>A (p.Pro2606His) c.7775C>A (p.Pro2592His) | |
8 | g.133133508C>G | CA372253119 | TG | c.8036C>G (p.Pro2679Arg) c.3402C>G c.2435C>G (p.Pro812Arg) c.248C>G (p.Pro83Arg) n.122C>G c.4691C>G c.7844C>G (p.Pro2615Arg) c.7973C>G (p.Pro2658Arg) c.7970C>G (p.Pro2657Arg) c.7901C>G (p.Pro2634Arg) c.7865C>G (p.Pro2622Arg) c.7817C>G (p.Pro2606Arg) c.7775C>G (p.Pro2592Arg) | |
8 | g.133133508C>T | CA372253121 | TG | c.8036C>T (p.Pro2679Leu) c.3402C>T c.2435C>T (p.Pro812Leu) c.248C>T (p.Pro83Leu) n.122C>T c.4691C>T c.7844C>T (p.Pro2615Leu) c.7973C>T (p.Pro2658Leu) c.7970C>T (p.Pro2657Leu) c.7901C>T (p.Pro2634Leu) c.7865C>T (p.Pro2622Leu) c.7817C>T (p.Pro2606Leu) c.7775C>T (p.Pro2592Leu) | |
8 | g.133133509C>A | CA463017040 | TG | c.8037C>A (p.Pro2679=) c.3403C>A c.2436C>A (p.Pro812=) c.249C>A (p.Pro83=) n.123C>A c.4692C>A c.7845C>A (p.Pro2615=) c.7974C>A (p.Pro2658=) c.7971C>A (p.Pro2657=) c.7902C>A (p.Pro2634=) c.7866C>A (p.Pro2622=) c.7818C>A (p.Pro2606=) c.7776C>A (p.Pro2592=) | |
8 | g.133133509C= | CA1821104899 | TG | c.8037C= (p.Pro2679=) c.3403C= c.2436C= (p.Pro812=) c.249C= (p.Pro83=) n.123C= c.4692C= c.7845C= (p.Pro2615=) c.7974C= (p.Pro2658=) c.7971C= (p.Pro2657=) c.7902C= (p.Pro2634=) c.7866C= (p.Pro2622=) c.7818C= (p.Pro2606=) c.7776C= (p.Pro2592=) | |
8 | g.133133509C>G | CA463017041 | TG | c.8037C>G (p.Pro2679=) c.3403C>G c.2436C>G (p.Pro812=) c.249C>G (p.Pro83=) n.123C>G c.4692C>G c.7845C>G (p.Pro2615=) c.7974C>G (p.Pro2658=) c.7971C>G (p.Pro2657=) c.7902C>G (p.Pro2634=) c.7866C>G (p.Pro2622=) c.7818C>G (p.Pro2606=) c.7776C>G (p.Pro2592=) | gnomAD v4 |
8 | g.133133509C>T | CA463017042 | TG | c.8037C>T (p.Pro2679=) c.3403C>T c.2436C>T (p.Pro812=) c.249C>T (p.Pro83=) n.123C>T c.4692C>T c.7845C>T (p.Pro2615=) c.7974C>T (p.Pro2658=) c.7971C>T (p.Pro2657=) c.7902C>T (p.Pro2634=) c.7866C>T (p.Pro2622=) c.7818C>T (p.Pro2606=) c.7776C>T (p.Pro2592=) | ClinVar dbSNP |
8 | g.133133510A= | CA1821104900 | TG | c.8038A= (p.Thr2680=) c.3404A= c.2437A= (p.Thr813=) c.250A= (p.Thr84=) n.124A= c.4693A= c.7846A= (p.Thr2616=) c.7975A= (p.Thr2659=) c.7972A= (p.Thr2658=) c.7903A= (p.Thr2635=) c.7867A= (p.Thr2623=) c.7819A= (p.Thr2607=) c.7777A= (p.Thr2593=) | |
8 | g.133133510A>C | CA372253123 | TG | c.8038A>C (p.Thr2680Pro) c.3404A>C c.2437A>C (p.Thr813Pro) c.250A>C (p.Thr84Pro) n.124A>C c.4693A>C c.7846A>C (p.Thr2616Pro) c.7975A>C (p.Thr2659Pro) c.7972A>C (p.Thr2658Pro) c.7903A>C (p.Thr2635Pro) c.7867A>C (p.Thr2623Pro) c.7819A>C (p.Thr2607Pro) c.7777A>C (p.Thr2593Pro) | |
8 | g.133133510A>G | CA372253125 | TG | c.8038A>G (p.Thr2680Ala) c.3404A>G c.2437A>G (p.Thr813Ala) c.250A>G (p.Thr84Ala) n.124A>G c.4693A>G c.7846A>G (p.Thr2616Ala) c.7975A>G (p.Thr2659Ala) c.7972A>G (p.Thr2658Ala) c.7903A>G (p.Thr2635Ala) c.7867A>G (p.Thr2623Ala) c.7819A>G (p.Thr2607Ala) c.7777A>G (p.Thr2593Ala) | |
8 | g.133133510A>T | CA372253127 | TG | c.8038A>T (p.Thr2680Ser) c.3404A>T c.2437A>T (p.Thr813Ser) c.250A>T (p.Thr84Ser) n.124A>T c.4693A>T c.7846A>T (p.Thr2616Ser) c.7975A>T (p.Thr2659Ser) c.7972A>T (p.Thr2658Ser) c.7903A>T (p.Thr2635Ser) c.7867A>T (p.Thr2623Ser) c.7819A>T (p.Thr2607Ser) c.7777A>T (p.Thr2593Ser) | dbSNP |