Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.133133410A=CA1821104850TGc.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=)
8g.133133410A>TCA186356547TGc.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
8g.133133411G>ACA186356574TGc.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
8g.133133411G=CA1821104851TGc.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=)
8g.133133412G>ACA2688665252TGc.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
8g.133133412G>CCA2688665253TGc.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
8g.133133413T>ACA2688665254TGc.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
8g.133133416T>ACA2688665255TGc.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
8g.133133417G>ACA2688665257TGc.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
8g.133133417G>CCA2688665256TGc.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
8g.133133421G>ACA4885864TGc.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
8g.133133421G=CA1821104852TGc.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=)
8g.133133422G>ACA186356592TGc.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
8g.133133422G=CA1821104853TGc.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=)
8g.133133423A=CA1821104854TGc.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=)
8g.133133423A>GCA4885865TGc.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
8g.133133424A=CA1821104855TGc.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=)
8g.133133424A>GCA1821104856TGc.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
8g.133133425A>TCA2688665258TGc.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
8g.133133427A=CA1821104857TGc.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=)
8g.133133427A>TCA4885866TGc.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
8g.133133428C>ACA2688665259TGc.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
8g.133133428C=CA1821104859TGc.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=)
8g.133133428C>GCA585277878TGc.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
8g.133133428C>TCA2688665260TGc.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
8g.133133428_133133430delinsCAACA1821104858TGc.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)
8g.133133430_133133431delCA4885867TGc.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
8g.133133430A>GCA2688665261TGc.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
8g.133133432T>CCA1821104860TGc.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
8g.133133432T=CA1821104861TGc.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=)
8g.133133435C=CA1821104862TGc.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=)
8g.133133435C>TCA4885868TGc.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
8g.133133436C>TCA2688665262TGc.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
8g.133133437C>ACA2688665263TGc.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
8g.133133437C=CA1821104863TGc.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=)
8g.133133437C>TCA1821104864TGc.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
8g.133133438T>CCA2688665264TGc.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
8g.133133439C>ACA2688665265TGc.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
8g.133133439C>TCA2688665266TGc.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
8g.133133440A>CCA2688665267TGc.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
8g.133133440A>GCA2579255372TGc.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
8g.133133441T>CCA4885869TGc.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
8g.133133441T=CA1821104865TGc.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=)
8g.133133442G>ACA585277879TGc.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
8g.133133442G=CA1821104866TGc.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=)
8g.133133444A=CA1821104867TGc.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=)
8g.133133444A>GCA4885870TGc.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
8g.133133446A=CA1821104869TGc.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=)
8g.133133446A>GCA1821104870TGc.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
8g.133133446_133133450delinsATTTCCA1821104868TGc.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)
8g.133133447T>ACA4885871TGc.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
8g.133133447T=CA1821104871TGc.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=)
8g.133133453_133133456delCA372252945TGc.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
8g.133133448T>CCA2688665268TGc.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
8g.133133448T>GCA2579255373TGc.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)
8g.133133449T>CCA4885872TGc.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
8g.133133449T=CA1821104872TGc.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=)
8g.133133450C>ACA585277880TGc.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
8g.133133450C=CA1821104873TGc.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=)
8g.133133451T>CCA2688665269TGc.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
8g.133133453T>CCA847740839TGc.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
8g.133133453T=CA1821104874TGc.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=)
8g.133133454C>ACA2688665270TGc.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
8g.133133457C=CA1821104875TGc.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=)
8g.133133457C>GCA1821104876TGc.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
8g.133133459C=CA1821104877TGc.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=)
8g.133133459C>GCA186356603TGc.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
8g.133133459C>TCA2688665271TGc.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
8g.133133462T>ACA1821104879TGc.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
8g.133133462T=CA1821104878TGc.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=)
8g.133133463T>CCA2688665272TGc.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
8g.133133464G>TCA2543422693TGc.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)
8g.133133465C=CA1821104880TGc.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=)
8g.133133465C>TCA847740842TGc.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
8g.133133466C>GCA2688665273TGc.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
8g.133133467C=CA1821104881TGc.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=)
8g.133133467C>GCA1821104882TGc.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
8g.133133467C>TCA2688665274TGc.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
8g.133133468A>CCA372252952TGc.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)
8g.133133468A>GCA372252949TGc.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)
8g.133133468A>TCA372252950TGc.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)
8g.133133469G>ACA372252955TGc.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)
8g.133133469G>CCA372252956TGc.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)
8g.133133469G>TCA372252958TGc.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
8g.133133470A>CCA372252960TGc.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=)
8g.133133470A>GCA463016976TGc.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=)
8g.133133470A>TCA372252962TGc.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=)
8g.133133472delCA2697550173TGc.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
8g.133133471A>CCA372252964TGc.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)
8g.133133471A>GCA372252968TGc.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)
8g.133133471A>TCA372252966TGc.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)
8g.133133472A>CCA372252970TGc.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)
8g.133133472A>GCA372252972TGc.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)
8g.133133472A>TCA372252974TGc.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)
8g.133133473T>ACA372252976TGc.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)
8g.133133473T>CCA463016977TGc.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
8g.133133473T>GCA372252978TGc.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)
8g.133133473T=CA1821104883TGc.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=)
8g.133133474C>ACA372252980TGc.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)
8g.133133474C>GCA372252981TGc.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
8g.133133474C>TCA372252983TGc.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
8g.133133475C>ACA372252986TGc.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)
8g.133133475C=CA1821104884TGc.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=)
8g.133133475C>GCA372252987TGc.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)
8g.133133475C>TCA372252989TGc.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
8g.133133476C>ACA463016983TGc.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
8g.133133476C>GCA463016982TGc.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=)
8g.133133476C>TCA463016981TGc.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=)
8g.133133477A=CA1821104885TGc.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=)
8g.133133477A>CCA372252991TGc.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)
8g.133133477A>GCA372252995TGc.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
8g.133133477A>TCA372252993TGc.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)
8g.133133478A=CA1821104886TGc.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=)
8g.133133478A>CCA372252996TGc.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)
8g.133133478A>GCA4885873TGc.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
8g.133133478A>TCA372252998TGc.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
8g.133133479C>ACA372253001TGc.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)
8g.133133479C>GCA372253003TGc.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)
8g.133133479C>TCA463016988TGc.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
8g.133133480T>ACA4885874TGc.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
8g.133133480T>CCA372253005TGc.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)
8g.133133480T>GCA372253007TGc.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)
8g.133133480T=CA1821104887TGc.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=)
8g.133133481A=CA1821104888TGc.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=)
8g.133133481A>CCA372253008TGc.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)
8g.133133481A>GCA4885875TGc.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
8g.133133481A>TCA372253010TGc.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)
8g.133133482C>ACA372253012TGc.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
8g.133133482C=CA1821104889TGc.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=)
8g.133133482C>GCA372253014TGc.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)
8g.133133482C>TCA463016990TGc.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
8g.133133484delCA2579255374TGc.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?)
8g.133133483C>ACA372253016TGc.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
8g.133133483C=CA1821104890TGc.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=)
8g.133133483C>GCA372253018TGc.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
8g.133133483C>TCA4885876TGc.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
8g.133133484C>ACA372253021TGc.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)
8g.133133484C>GCA372253025TGc.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)
8g.133133484C>TCA372253023TGc.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
8g.133133485T>ACA463016993TGc.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=)
8g.133133485T>CCA463016994TGc.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=)
8g.133133485T>GCA463016995TGc.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
8g.133133486T>ACA372253026TGc.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)
8g.133133486T>CCA372253028TGc.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
8g.133133486T>GCA372253030TGc.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)
8g.133133486T=CA1821104891TGc.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=)
8g.133133487A>CCA372253032TGc.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)
8g.133133487A>GCA372253034TGc.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)
8g.133133487A>TCA372253035TGc.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)
8g.133133488T>ACA372253037TGc.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)
8g.133133488T>CCA4885877TGc.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
8g.133133488T>GCA372253040TGc.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
8g.133133488T=CA1821104892TGc.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=)
8g.133133489G>ACA372253046TGc.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)
8g.133133489G>CCA372253044TGc.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)
8g.133133489G>TCA372253042TGc.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)
8g.133133490A>CCA372253048TGc.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)
8g.133133490A>GCA372253049TGc.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)
8g.133133490A>TCA372253052TGc.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)
8g.133133491G>ACA463017002TGc.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
8g.133133491G>CCA372253054TGc.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)
8g.133133491G>TCA372253055TGc.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
8g.133133492T>ACA372253058TGc.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)
8g.133133492T>CCA372253059TGc.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
8g.133133492T>GCA372253061TGc.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)
8g.133133493T>ACA372253063TGc.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)
8g.133133493T>CCA372253065TGc.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)
8g.133133493T>GCA372253067TGc.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)
8g.133133494C>ACA372253068TGc.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)
8g.133133494C>GCA372253069TGc.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)
8g.133133494C>TCA463017009TGc.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=)
8g.133133495T>ACA372253073TGc.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)
8g.133133495T>CCA372253071TGc.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)
8g.133133495T>GCA372253072TGc.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)
8g.133133496C>ACA372253075TGc.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)
8g.133133496C>GCA372253077TGc.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)
8g.133133496C>TCA372253079TGc.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)
8g.133133497A>CCA463017012TGc.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
8g.133133497A>GCA463017013TGc.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=)
8g.133133497A>TCA463017014TGc.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=)
8g.133133498C>ACA463017016TGc.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=)
8g.133133498C=CA1821104893TGc.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=)
8g.133133498C>GCA372253081TGc.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
8g.133133498C>TCA4885878TGc.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
8g.133133499G>ACA4885879TGc.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
8g.133133499G>CCA372253084TGc.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)
8g.133133499G=CA1821104894TGc.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=)
8g.133133499G>TCA372253086TGc.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)
8g.133133500G>ACA463017017TGc.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=)
8g.133133500G>CCA463017019TGc.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=)
8g.133133500G>TCA463017021TGc.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=)
8g.133133501A=CA1821104895TGc.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=)
8g.133133501A>CCA4885880TGc.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
8g.133133501A>GCA372253088TGc.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)
8g.133133501A>TCA372253090TGc.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)
8g.133133502A>CCA372253096TGc.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)
8g.133133502A>GCA372253094TGc.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)
8g.133133502A>TCA372253093TGc.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)
8g.133133503A=CA1821104896TGc.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=)
8g.133133503A>CCA372253097TGc.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)
8g.133133503A>GCA463017028TGc.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
8g.133133503A>TCA372253098TGc.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)
8g.133133504G>ACA372253100TGc.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
8g.133133504G>CCA372253104TGc.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
8g.133133504G=CA1821104897TGc.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=)
8g.133133504G>TCA372253102TGc.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)
8g.133133505T>ACA372253105TGc.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)
8g.133133505T>CCA372253109TGc.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
8g.133133505T>GCA372253107TGc.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)
8g.133133505T=CA1821104898TGc.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=)
8g.133133506A>CCA463017030TGc.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=)
8g.133133506A>GCA463017031TGc.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=)
8g.133133506A>TCA463017032TGc.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=)
8g.133133507C>ACA372253112TGc.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)
8g.133133507C>GCA372253113TGc.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)
8g.133133507C>TCA372253115TGc.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)
8g.133133508C>ACA372253117TGc.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)
8g.133133508C>GCA372253119TGc.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)
8g.133133508C>TCA372253121TGc.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)
8g.133133509C>ACA463017040TGc.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=)
8g.133133509C=CA1821104899TGc.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=)
8g.133133509C>GCA463017041TGc.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
8g.133133509C>TCA463017042TGc.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
8g.133133510A=CA1821104900TGc.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=)
8g.133133510A>CCA372253123TGc.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)
8g.133133510A>GCA372253125TGc.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)
8g.133133510A>TCA372253127TGc.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

Number of alleles fetched