Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.99769013_99776930delCA1139660679VPS13Bc.7322+2043_7478del
n.7392+2043_7548del
c.*3004+2043_*3160del
c.7247+2043_7403del
n.377+2043_378-1752del
c.7319+2043_7475del
c.7244+2043_7400del
c.6944+2043_7100del
c.4208+2043_4364del
c.3101+2043_3257del
n.1830+5550_2065+1677del
c.7127+2043_7283del
c.2879+2043_3035del
c.6107+2043_6263del
 ClinVar
8g.99776733A>GCA2688068057VPS13Bc.7323-42A>G (n.7323-42A>G)
n.7393-42A>G
c.*3005-42A>G (n.*3005-42A>G)
c.7248-42A>G (n.7248-42A>G)
n.378-1949A>G
c.7320-42A>G (n.7320-42A>G)
c.7245-42A>G (n.7245-42A>G)
c.6945-42A>G (n.6945-42A>G)
c.4209-42A>G (n.4209-42A>G)
c.3102-42A>G (n.3102-42A>G)
n.1830+5745T>C
c.7128-42A>G (n.7128-42A>G)
c.2880-42A>G (n.2880-42A>G)
c.6108-42A>G (n.6108-42A>G)
 gnomAD v4
8g.99776738T>GCA2781478371VPS13Bc.7323-37T>G (n.7323-37T>G)
n.7393-37T>G
c.*3005-37T>G (n.*3005-37T>G)
c.7248-37T>G (n.7248-37T>G)
n.378-1944T>G
c.7320-37T>G (n.7320-37T>G)
c.7245-37T>G (n.7245-37T>G)
c.6945-37T>G (n.6945-37T>G)
c.4209-37T>G (n.4209-37T>G)
c.3102-37T>G (n.3102-37T>G)
n.1830+5740A>C
c.7128-37T>G (n.7128-37T>G)
c.2880-37T>G (n.2880-37T>G)
c.6108-37T>G (n.6108-37T>G)
8g.99776739G>ACA584327776VPS13Bc.7323-36G>A (n.7323-36G>A)
n.7393-36G>A
c.*3005-36G>A (n.*3005-36G>A)
c.7248-36G>A (n.7248-36G>A)
n.378-1943G>A
c.7320-36G>A (n.7320-36G>A)
c.7245-36G>A (n.7245-36G>A)
c.6945-36G>A (n.6945-36G>A)
c.4209-36G>A (n.4209-36G>A)
c.3102-36G>A (n.3102-36G>A)
n.1830+5739C>T
c.7128-36G>A (n.7128-36G>A)
c.2880-36G>A (n.2880-36G>A)
c.6108-36G>A (n.6108-36G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99776739G>TCA183041691VPS13Bc.7323-36G>T (n.7323-36G>T)
n.7393-36G>T
c.*3005-36G>T (n.*3005-36G>T)
c.7248-36G>T (n.7248-36G>T)
n.378-1943G>T
c.7320-36G>T (n.7320-36G>T)
c.7245-36G>T (n.7245-36G>T)
c.6945-36G>T (n.6945-36G>T)
c.4209-36G>T (n.4209-36G>T)
c.3102-36G>T (n.3102-36G>T)
n.1830+5739C>A
c.7128-36G>T (n.7128-36G>T)
c.2880-36G>T (n.2880-36G>T)
c.6108-36G>T (n.6108-36G>T)
 dbSNP gnomAD v4
8g.99776740G>ACA2688068058VPS13Bc.7323-35G>A (n.7323-35G>A)
n.7393-35G>A
c.*3005-35G>A (n.*3005-35G>A)
c.7248-35G>A (n.7248-35G>A)
n.378-1942G>A
c.7320-35G>A (n.7320-35G>A)
c.7245-35G>A (n.7245-35G>A)
c.6945-35G>A (n.6945-35G>A)
c.4209-35G>A (n.4209-35G>A)
c.3102-35G>A (n.3102-35G>A)
n.1830+5738C>T
c.7128-35G>A (n.7128-35G>A)
c.2880-35G>A (n.2880-35G>A)
c.6108-35G>A (n.6108-35G>A)
 gnomAD v4
8g.99776741T>CCA2688068060VPS13Bc.7323-34T>C (n.7323-34T>C)
n.7393-34T>C
c.*3005-34T>C (n.*3005-34T>C)
c.7248-34T>C (n.7248-34T>C)
n.378-1941T>C
c.7320-34T>C (n.7320-34T>C)
c.7245-34T>C (n.7245-34T>C)
c.6945-34T>C (n.6945-34T>C)
c.4209-34T>C (n.4209-34T>C)
c.3102-34T>C (n.3102-34T>C)
n.1830+5737A>G
c.7128-34T>C (n.7128-34T>C)
c.2880-34T>C (n.2880-34T>C)
c.6108-34T>C (n.6108-34T>C)
 gnomAD v4
8g.99776742delCA2688068059VPS13Bc.7323-33del (n.7323-33del)
n.7393-33del
c.*3005-33del (n.*3005-33del)
c.7248-33del (n.7248-33del)
n.378-1940del
c.7320-33del (n.7320-33del)
c.7245-33del (n.7245-33del)
c.6945-33del (n.6945-33del)
c.4209-33del (n.4209-33del)
c.3102-33del (n.3102-33del)
n.1830+5737del
c.7128-33del (n.7128-33del)
c.2880-33del (n.2880-33del)
c.6108-33del (n.6108-33del)
 gnomAD v4
8g.99776742T>GCA2717802535VPS13Bc.7323-33T>G (n.7323-33T>G)
n.7393-33T>G
c.*3005-33T>G (n.*3005-33T>G)
c.7248-33T>G (n.7248-33T>G)
n.378-1940T>G
c.7320-33T>G (n.7320-33T>G)
c.7245-33T>G (n.7245-33T>G)
c.6945-33T>G (n.6945-33T>G)
c.4209-33T>G (n.4209-33T>G)
c.3102-33T>G (n.3102-33T>G)
n.1830+5736A>C
c.7128-33T>G (n.7128-33T>G)
c.2880-33T>G (n.2880-33T>G)
c.6108-33T>G (n.6108-33T>G)
 dbSNP
8g.99776743A>GCA2688068061VPS13Bc.7323-32A>G (n.7323-32A>G)
n.7393-32A>G
c.*3005-32A>G (n.*3005-32A>G)
c.7248-32A>G (n.7248-32A>G)
n.378-1939A>G
c.7320-32A>G (n.7320-32A>G)
c.7245-32A>G (n.7245-32A>G)
c.6945-32A>G (n.6945-32A>G)
c.4209-32A>G (n.4209-32A>G)
c.3102-32A>G (n.3102-32A>G)
n.1830+5735T>C
c.7128-32A>G (n.7128-32A>G)
c.2880-32A>G (n.2880-32A>G)
c.6108-32A>G (n.6108-32A>G)
 gnomAD v4
8g.99776743A>TCA4824183VPS13Bc.7323-32A>T (n.7323-32A>T)
n.7393-32A>T
c.*3005-32A>T (n.*3005-32A>T)
c.7248-32A>T (n.7248-32A>T)
n.378-1939A>T
c.7320-32A>T (n.7320-32A>T)
c.7245-32A>T (n.7245-32A>T)
c.6945-32A>T (n.6945-32A>T)
c.4209-32A>T (n.4209-32A>T)
c.3102-32A>T (n.3102-32A>T)
n.1830+5735T>A
c.7128-32A>T (n.7128-32A>T)
c.2880-32A>T (n.2880-32A>T)
c.6108-32A>T (n.6108-32A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99776744T>CCA584327777VPS13Bc.7323-31T>C (n.7323-31T>C)
n.7393-31T>C
c.*3005-31T>C (n.*3005-31T>C)
c.7248-31T>C (n.7248-31T>C)
n.378-1938T>C
c.7320-31T>C (n.7320-31T>C)
c.7245-31T>C (n.7245-31T>C)
c.6945-31T>C (n.6945-31T>C)
c.4209-31T>C (n.4209-31T>C)
c.3102-31T>C (n.3102-31T>C)
n.1830+5734A>G
c.7128-31T>C (n.7128-31T>C)
c.2880-31T>C (n.2880-31T>C)
c.6108-31T>C (n.6108-31T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99776747A>GCA2688068062VPS13Bc.7323-28A>G (n.7323-28A>G)
n.7393-28A>G
c.*3005-28A>G (n.*3005-28A>G)
c.7248-28A>G (n.7248-28A>G)
n.378-1935A>G
c.7320-28A>G (n.7320-28A>G)
c.7245-28A>G (n.7245-28A>G)
c.6945-28A>G (n.6945-28A>G)
c.4209-28A>G (n.4209-28A>G)
c.3102-28A>G (n.3102-28A>G)
n.1830+5731T>C
c.7128-28A>G (n.7128-28A>G)
c.2880-28A>G (n.2880-28A>G)
c.6108-28A>G (n.6108-28A>G)
 gnomAD v4
8g.99776748A>GCA2717802537VPS13Bc.7323-27A>G (n.7323-27A>G)
n.7393-27A>G
c.*3005-27A>G (n.*3005-27A>G)
c.7248-27A>G (n.7248-27A>G)
n.378-1934A>G
c.7320-27A>G (n.7320-27A>G)
c.7245-27A>G (n.7245-27A>G)
c.6945-27A>G (n.6945-27A>G)
c.4209-27A>G (n.4209-27A>G)
c.3102-27A>G (n.3102-27A>G)
n.1830+5730T>C
c.7128-27A>G (n.7128-27A>G)
c.2880-27A>G (n.2880-27A>G)
c.6108-27A>G (n.6108-27A>G)
 dbSNP
8g.99776749C>GCA183041694VPS13Bc.7323-26C>G (n.7323-26C>G)
n.7393-26C>G
c.*3005-26C>G (n.*3005-26C>G)
c.7248-26C>G (n.7248-26C>G)
n.378-1933C>G
c.7320-26C>G (n.7320-26C>G)
c.7245-26C>G (n.7245-26C>G)
c.6945-26C>G (n.6945-26C>G)
c.4209-26C>G (n.4209-26C>G)
c.3102-26C>G (n.3102-26C>G)
n.1830+5729G>C
c.7128-26C>G (n.7128-26C>G)
c.2880-26C>G (n.2880-26C>G)
c.6108-26C>G (n.6108-26C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99776749C>TCA2688068063VPS13Bc.7323-26C>T (n.7323-26C>T)
n.7393-26C>T
c.*3005-26C>T (n.*3005-26C>T)
c.7248-26C>T (n.7248-26C>T)
n.378-1933C>T
c.7320-26C>T (n.7320-26C>T)
c.7245-26C>T (n.7245-26C>T)
c.6945-26C>T (n.6945-26C>T)
c.4209-26C>T (n.4209-26C>T)
c.3102-26C>T (n.3102-26C>T)
n.1830+5729G>A
c.7128-26C>T (n.7128-26C>T)
c.2880-26C>T (n.2880-26C>T)
c.6108-26C>T (n.6108-26C>T)
 gnomAD v4
8g.99776750T>CCA2688068064VPS13Bc.7323-25T>C (n.7323-25T>C)
n.7393-25T>C
c.*3005-25T>C (n.*3005-25T>C)
c.7248-25T>C (n.7248-25T>C)
n.378-1932T>C
c.7320-25T>C (n.7320-25T>C)
c.7245-25T>C (n.7245-25T>C)
c.6945-25T>C (n.6945-25T>C)
c.4209-25T>C (n.4209-25T>C)
c.3102-25T>C (n.3102-25T>C)
n.1830+5728A>G
c.7128-25T>C (n.7128-25T>C)
c.2880-25T>C (n.2880-25T>C)
c.6108-25T>C (n.6108-25T>C)
 gnomAD v4
8g.99776755T>ACA2688068065VPS13Bc.7323-20T>A (n.7323-20T>A)
n.7393-20T>A
c.*3005-20T>A (n.*3005-20T>A)
c.7248-20T>A (n.7248-20T>A)
n.378-1927T>A
c.7320-20T>A (n.7320-20T>A)
c.7245-20T>A (n.7245-20T>A)
c.6945-20T>A (n.6945-20T>A)
c.4209-20T>A (n.4209-20T>A)
c.3102-20T>A (n.3102-20T>A)
n.1830+5723A>T
c.7128-20T>A (n.7128-20T>A)
c.2880-20T>A (n.2880-20T>A)
c.6108-20T>A (n.6108-20T>A)
 gnomAD v4
8g.99776757A>TCA2688068066VPS13Bc.7323-18A>T (n.7323-18A>T)
n.7393-18A>T
c.*3005-18A>T (n.*3005-18A>T)
c.7248-18A>T (n.7248-18A>T)
n.378-1925A>T
c.7320-18A>T (n.7320-18A>T)
c.7245-18A>T (n.7245-18A>T)
c.6945-18A>T (n.6945-18A>T)
c.4209-18A>T (n.4209-18A>T)
c.3102-18A>T (n.3102-18A>T)
n.1830+5721T>A
c.7128-18A>T (n.7128-18A>T)
c.2880-18A>T (n.2880-18A>T)
c.6108-18A>T (n.6108-18A>T)
 gnomAD v4
8g.99776759C>GCA2688068067VPS13Bc.7323-16C>G (n.7323-16C>G)
n.7393-16C>G
c.*3005-16C>G (n.*3005-16C>G)
c.7248-16C>G (n.7248-16C>G)
n.378-1923C>G
c.7320-16C>G (n.7320-16C>G)
c.7245-16C>G (n.7245-16C>G)
c.6945-16C>G (n.6945-16C>G)
c.4209-16C>G (n.4209-16C>G)
c.3102-16C>G (n.3102-16C>G)
n.1830+5719G>C
c.7128-16C>G (n.7128-16C>G)
c.2880-16C>G (n.2880-16C>G)
c.6108-16C>G (n.6108-16C>G)
 gnomAD v4
8g.99776759C>TCA4824184VPS13Bc.7323-16C>T (n.7323-16C>T)
n.7393-16C>T
c.*3005-16C>T (n.*3005-16C>T)
c.7248-16C>T (n.7248-16C>T)
n.378-1923C>T
c.7320-16C>T (n.7320-16C>T)
c.7245-16C>T (n.7245-16C>T)
c.6945-16C>T (n.6945-16C>T)
c.4209-16C>T (n.4209-16C>T)
c.3102-16C>T (n.3102-16C>T)
n.1830+5719G>A
c.7128-16C>T (n.7128-16C>T)
c.2880-16C>T (n.2880-16C>T)
c.6108-16C>T (n.6108-16C>T)
 ClinVar dbSNP ExAC gnomAD v2
8g.99776760A>GCA2688068068VPS13Bc.7323-15A>G (n.7323-15A>G)
n.7393-15A>G
c.*3005-15A>G (n.*3005-15A>G)
c.7248-15A>G (n.7248-15A>G)
n.378-1922A>G
c.7320-15A>G (n.7320-15A>G)
c.7245-15A>G (n.7245-15A>G)
c.6945-15A>G (n.6945-15A>G)
c.4209-15A>G (n.4209-15A>G)
c.3102-15A>G (n.3102-15A>G)
n.1830+5718T>C
c.7128-15A>G (n.7128-15A>G)
c.2880-15A>G (n.2880-15A>G)
c.6108-15A>G (n.6108-15A>G)
 gnomAD v4
8g.99776764C>ACA2697550071VPS13Bc.7323-11C>A (n.7323-11C>A)
n.7393-11C>A
c.*3005-11C>A (n.*3005-11C>A)
c.7248-11C>A (n.7248-11C>A)
n.378-1918C>A
c.7320-11C>A (n.7320-11C>A)
c.7245-11C>A (n.7245-11C>A)
c.6945-11C>A (n.6945-11C>A)
c.4209-11C>A (n.4209-11C>A)
c.3102-11C>A (n.3102-11C>A)
n.1830+5714G>T
c.7128-11C>A (n.7128-11C>A)
c.2880-11C>A (n.2880-11C>A)
c.6108-11C>A (n.6108-11C>A)
 ClinVar
8g.99776764C>GCA2688068069VPS13Bc.7323-11C>G (n.7323-11C>G)
n.7393-11C>G
c.*3005-11C>G (n.*3005-11C>G)
c.7248-11C>G (n.7248-11C>G)
n.378-1918C>G
c.7320-11C>G (n.7320-11C>G)
c.7245-11C>G (n.7245-11C>G)
c.6945-11C>G (n.6945-11C>G)
c.4209-11C>G (n.4209-11C>G)
c.3102-11C>G (n.3102-11C>G)
n.1830+5714G>C
c.7128-11C>G (n.7128-11C>G)
c.2880-11C>G (n.2880-11C>G)
c.6108-11C>G (n.6108-11C>G)
 gnomAD v4
8g.99776766T>GCA2740095125VPS13Bc.7323-9T>G (n.7323-9T>G)
n.7393-9T>G
c.*3005-9T>G (n.*3005-9T>G)
c.7248-9T>G (n.7248-9T>G)
n.378-1916T>G
c.7320-9T>G (n.7320-9T>G)
c.7245-9T>G (n.7245-9T>G)
c.6945-9T>G (n.6945-9T>G)
c.4209-9T>G (n.4209-9T>G)
c.3102-9T>G (n.3102-9T>G)
n.1830+5712A>C
c.7128-9T>G (n.7128-9T>G)
c.2880-9T>G (n.2880-9T>G)
c.6108-9T>G (n.6108-9T>G)
 ClinVar
8g.99776769C>TCA2580079166VPS13Bc.7323-6C>T (n.7323-6C>T)
n.7393-6C>T
c.*3005-6C>T (n.*3005-6C>T)
c.7248-6C>T (n.7248-6C>T)
n.378-1913C>T
c.7320-6C>T (n.7320-6C>T)
c.7245-6C>T (n.7245-6C>T)
c.6945-6C>T (n.6945-6C>T)
c.4209-6C>T (n.4209-6C>T)
c.3102-6C>T (n.3102-6C>T)
n.1830+5709G>A
c.7128-6C>T (n.7128-6C>T)
c.2880-6C>T (n.2880-6C>T)
c.6108-6C>T (n.6108-6C>T)
 ClinVar gnomAD v4
8g.99776770C>GCA2688068071VPS13Bc.7323-5C>G (n.7323-5C>G)
n.7393-5C>G
c.*3005-5C>G (n.*3005-5C>G)
c.7248-5C>G (n.7248-5C>G)
n.378-1912C>G
c.7320-5C>G (n.7320-5C>G)
c.7245-5C>G (n.7245-5C>G)
c.6945-5C>G (n.6945-5C>G)
c.4209-5C>G (n.4209-5C>G)
c.3102-5C>G (n.3102-5C>G)
n.1830+5708G>C
c.7128-5C>G (n.7128-5C>G)
c.2880-5C>G (n.2880-5C>G)
c.6108-5C>G (n.6108-5C>G)
 gnomAD v4
8g.99776771A>GCA2573143596VPS13Bc.7323-4A>G (n.7323-4A>G)
n.7393-4A>G
c.*3005-4A>G (n.*3005-4A>G)
c.7248-4A>G (n.7248-4A>G)
n.378-1911A>G
c.7320-4A>G (n.7320-4A>G)
c.7245-4A>G (n.7245-4A>G)
c.6945-4A>G (n.6945-4A>G)
c.4209-4A>G (n.4209-4A>G)
c.3102-4A>G (n.3102-4A>G)
n.1830+5707T>C
c.7128-4A>G (n.7128-4A>G)
c.2880-4A>G (n.2880-4A>G)
c.6108-4A>G (n.6108-4A>G)
 ClinVar dbSNP gnomAD v4
8g.99776771A>TCA2688068072VPS13Bc.7323-4A>T (n.7323-4A>T)
n.7393-4A>T
c.*3005-4A>T (n.*3005-4A>T)
c.7248-4A>T (n.7248-4A>T)
n.378-1911A>T
c.7320-4A>T (n.7320-4A>T)
c.7245-4A>T (n.7245-4A>T)
c.6945-4A>T (n.6945-4A>T)
c.4209-4A>T (n.4209-4A>T)
c.3102-4A>T (n.3102-4A>T)
n.1830+5707T>A
c.7128-4A>T (n.7128-4A>T)
c.2880-4A>T (n.2880-4A>T)
c.6108-4A>T (n.6108-4A>T)
 gnomAD v4
8g.99776772T>ACA2579216142VPS13Bc.7323-3T>A (n.7323-3T>A)
n.7393-3T>A
c.*3005-3T>A (n.*3005-3T>A)
c.7248-3T>A (n.7248-3T>A)
n.378-1910T>A
c.7320-3T>A (n.7320-3T>A)
c.7245-3T>A (n.7245-3T>A)
c.6945-3T>A (n.6945-3T>A)
c.4209-3T>A (n.4209-3T>A)
c.3102-3T>A (n.3102-3T>A)
n.1830+5706A>T
c.7128-3T>A (n.7128-3T>A)
c.2880-3T>A (n.2880-3T>A)
c.6108-3T>A (n.6108-3T>A)
8g.99776772T>CCA2781478380VPS13Bc.7323-3T>C (n.7323-3T>C)
n.7393-3T>C
c.*3005-3T>C (n.*3005-3T>C)
c.7248-3T>C (n.7248-3T>C)
n.378-1910T>C
c.7320-3T>C (n.7320-3T>C)
c.7245-3T>C (n.7245-3T>C)
c.6945-3T>C (n.6945-3T>C)
c.4209-3T>C (n.4209-3T>C)
c.3102-3T>C (n.3102-3T>C)
n.1830+5706A>G
c.7128-3T>C (n.7128-3T>C)
c.2880-3T>C (n.2880-3T>C)
c.6108-3T>C (n.6108-3T>C)
8g.99776773delCA2602569724VPS13Bc.7323-2del (n.7323-2del)
n.7393-2del
c.*3005-2del (n.*3005-2del)
c.7248-2del (n.7248-2del)
n.378-1909del
c.7320-2del (n.7320-2del)
c.7245-2del (n.7245-2del)
c.6945-2del (n.6945-2del)
c.4209-2del (n.4209-2del)
c.3102-2del (n.3102-2del)
n.1830+5705del
c.7128-2del (n.7128-2del)
c.2880-2del (n.2880-2del)
c.6108-2del (n.6108-2del)
 gnomAD v3 gnomAD v4
8g.99776773A>CCA371875529VPS13Bc.7323-2A>C (n.7323-2A>C)
n.7393-2A>C
c.*3005-2A>C (n.*3005-2A>C)
c.7248-2A>C (n.7248-2A>C)
n.378-1909A>C
c.7320-2A>C (n.7320-2A>C)
c.7245-2A>C (n.7245-2A>C)
c.6945-2A>C (n.6945-2A>C)
c.4209-2A>C (n.4209-2A>C)
c.3102-2A>C (n.3102-2A>C)
n.1830+5705T>G
c.7128-2A>C (n.7128-2A>C)
c.2880-2A>C (n.2880-2A>C)
c.6108-2A>C (n.6108-2A>C)
8g.99776773A>GCA371875530VPS13Bc.7323-2A>G (n.7323-2A>G)
n.7393-2A>G
c.*3005-2A>G (n.*3005-2A>G)
c.7248-2A>G (n.7248-2A>G)
n.378-1909A>G
c.7320-2A>G (n.7320-2A>G)
c.7245-2A>G (n.7245-2A>G)
c.6945-2A>G (n.6945-2A>G)
c.4209-2A>G (n.4209-2A>G)
c.3102-2A>G (n.3102-2A>G)
n.1830+5705T>C
c.7128-2A>G (n.7128-2A>G)
c.2880-2A>G (n.2880-2A>G)
c.6108-2A>G (n.6108-2A>G)
8g.99776773A>TCA371875531VPS13Bc.7323-2A>T (n.7323-2A>T)
n.7393-2A>T
c.*3005-2A>T (n.*3005-2A>T)
c.7248-2A>T (n.7248-2A>T)
n.378-1909A>T
c.7320-2A>T (n.7320-2A>T)
c.7245-2A>T (n.7245-2A>T)
c.6945-2A>T (n.6945-2A>T)
c.4209-2A>T (n.4209-2A>T)
c.3102-2A>T (n.3102-2A>T)
n.1830+5705T>A
c.7128-2A>T (n.7128-2A>T)
c.2880-2A>T (n.2880-2A>T)
c.6108-2A>T (n.6108-2A>T)
8g.99776774G>ACA4824185VPS13Bc.7323-1G>A (n.7323-1G>A)
n.7393-1G>A
c.*3005-1G>A (n.*3005-1G>A)
c.7248-1G>A (n.7248-1G>A)
n.378-1908G>A
c.7320-1G>A (n.7320-1G>A)
c.7245-1G>A (n.7245-1G>A)
c.6945-1G>A (n.6945-1G>A)
c.4209-1G>A (n.4209-1G>A)
c.3102-1G>A (n.3102-1G>A)
n.1830+5704C>T
c.7128-1G>A (n.7128-1G>A)
c.2880-1G>A (n.2880-1G>A)
c.6108-1G>A (n.6108-1G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.99776774G>CCA371875532VPS13Bc.7323-1G>C (n.7323-1G>C)
n.7393-1G>C
c.*3005-1G>C (n.*3005-1G>C)
c.7248-1G>C (n.7248-1G>C)
n.378-1908G>C
c.7320-1G>C (n.7320-1G>C)
c.7245-1G>C (n.7245-1G>C)
c.6945-1G>C (n.6945-1G>C)
c.4209-1G>C (n.4209-1G>C)
c.3102-1G>C (n.3102-1G>C)
n.1830+5704C>G
c.7128-1G>C (n.7128-1G>C)
c.2880-1G>C (n.2880-1G>C)
c.6108-1G>C (n.6108-1G>C)
 ClinVar dbSNP
8g.99776774G>TCA371875533VPS13Bc.7323-1G>T (n.7323-1G>T)
n.7393-1G>T
c.*3005-1G>T (n.*3005-1G>T)
c.7248-1G>T (n.7248-1G>T)
n.378-1908G>T
c.7320-1G>T (n.7320-1G>T)
c.7245-1G>T (n.7245-1G>T)
c.6945-1G>T (n.6945-1G>T)
c.4209-1G>T (n.4209-1G>T)
c.3102-1G>T (n.3102-1G>T)
n.1830+5704C>A
c.7128-1G>T (n.7128-1G>T)
c.2880-1G>T (n.2880-1G>T)
c.6108-1G>T (n.6108-1G>T)
 dbSNP
8g.99776775C>ACA371875534VPS13Bc.7323C>A (p.Ser2441Arg)
n.7393C>A
c.*3005C>A (n.*3005C>A)
c.7248C>A (p.Ser2416Arg)
n.378-1907C>A
c.7320C>A (p.Ser2440Arg)
c.7245C>A (p.Ser2415Arg)
c.6945C>A (p.Ser2315Arg)
c.4209C>A (p.Ser1403Arg)
c.3102C>A (p.Ser1034Arg)
n.1830+5703G>T
c.7128C>A (p.Ser2376Arg)
c.2880C>A (p.Ser960Arg)
c.6108C>A (p.Ser2036Arg)
8g.99776775C>GCA371875535VPS13Bc.7323C>G (p.Ser2441Arg)
n.7393C>G
c.*3005C>G (n.*3005C>G)
c.7248C>G (p.Ser2416Arg)
n.378-1907C>G
c.7320C>G (p.Ser2440Arg)
c.7245C>G (p.Ser2415Arg)
c.6945C>G (p.Ser2315Arg)
c.4209C>G (p.Ser1403Arg)
c.3102C>G (p.Ser1034Arg)
n.1830+5703G>C
c.7128C>G (p.Ser2376Arg)
c.2880C>G (p.Ser960Arg)
c.6108C>G (p.Ser2036Arg)
8g.99776775C>TCA10605252VPS13Bc.7323C>T (p.Ser2441=)
n.7393C>T
c.*3005C>T (n.*3005C>T)
c.7248C>T (p.Ser2416=)
n.378-1907C>T
c.7320C>T (p.Ser2440=)
c.7245C>T (p.Ser2415=)
c.6945C>T (p.Ser2315=)
c.4209C>T (p.Ser1403=)
c.3102C>T (p.Ser1034=)
n.1830+5703G>A
c.7128C>T (p.Ser2376=)
c.2880C>T (p.Ser960=)
c.6108C>T (p.Ser2036=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.99776776T>ACA371875536VPS13Bc.7324T>A (p.Ser2442Thr)
n.7394T>A
c.*3006T>A (n.*3006T>A)
c.7249T>A (p.Ser2417Thr)
n.378-1906T>A
c.7321T>A (p.Ser2441Thr)
c.7246T>A (p.Ser2416Thr)
c.6946T>A (p.Ser2316Thr)
c.4210T>A (p.Ser1404Thr)
c.3103T>A (p.Ser1035Thr)
n.1830+5702A>T
c.7129T>A (p.Ser2377Thr)
c.2881T>A (p.Ser961Thr)
c.6109T>A (p.Ser2037Thr)
8g.99776776T>CCA371875538VPS13Bc.7324T>C (p.Ser2442Pro)
n.7394T>C
c.*3006T>C (n.*3006T>C)
c.7249T>C (p.Ser2417Pro)
n.378-1906T>C
c.7321T>C (p.Ser2441Pro)
c.7246T>C (p.Ser2416Pro)
c.6946T>C (p.Ser2316Pro)
c.4210T>C (p.Ser1404Pro)
c.3103T>C (p.Ser1035Pro)
n.1830+5702A>G
c.7129T>C (p.Ser2377Pro)
c.2881T>C (p.Ser961Pro)
c.6109T>C (p.Ser2037Pro)
8g.99776776T>GCA371875537VPS13Bc.7324T>G (p.Ser2442Ala)
n.7394T>G
c.*3006T>G (n.*3006T>G)
c.7249T>G (p.Ser2417Ala)
n.378-1906T>G
c.7321T>G (p.Ser2441Ala)
c.7246T>G (p.Ser2416Ala)
c.6946T>G (p.Ser2316Ala)
c.4210T>G (p.Ser1404Ala)
c.3103T>G (p.Ser1035Ala)
n.1830+5702A>C
c.7129T>G (p.Ser2377Ala)
c.2881T>G (p.Ser961Ala)
c.6109T>G (p.Ser2037Ala)
8g.99776777C>ACA371875539VPS13Bc.7325C>A (p.Ser2442Tyr)
n.7395C>A
c.*3007C>A (n.*3007C>A)
c.7250C>A (p.Ser2417Tyr)
n.378-1905C>A
c.7322C>A (p.Ser2441Tyr)
c.7247C>A (p.Ser2416Tyr)
c.6947C>A (p.Ser2316Tyr)
c.4211C>A (p.Ser1404Tyr)
c.3104C>A (p.Ser1035Tyr)
n.1830+5701G>T
c.7130C>A (p.Ser2377Tyr)
c.2882C>A (p.Ser961Tyr)
c.6110C>A (p.Ser2037Tyr)
 dbSNP gnomAD v4 COSMIC COSMIC
8g.99776777C>GCA371875540VPS13Bc.7325C>G (p.Ser2442Cys)
n.7395C>G
c.*3007C>G (n.*3007C>G)
c.7250C>G (p.Ser2417Cys)
n.378-1905C>G
c.7322C>G (p.Ser2441Cys)
c.7247C>G (p.Ser2416Cys)
c.6947C>G (p.Ser2316Cys)
c.4211C>G (p.Ser1404Cys)
c.3104C>G (p.Ser1035Cys)
n.1830+5701G>C
c.7130C>G (p.Ser2377Cys)
c.2882C>G (p.Ser961Cys)
c.6110C>G (p.Ser2037Cys)
8g.99776777C>TCA371875541VPS13Bc.7325C>T (p.Ser2442Phe)
n.7395C>T
c.*3007C>T (n.*3007C>T)
c.7250C>T (p.Ser2417Phe)
n.378-1905C>T
c.7322C>T (p.Ser2441Phe)
c.7247C>T (p.Ser2416Phe)
c.6947C>T (p.Ser2316Phe)
c.4211C>T (p.Ser1404Phe)
c.3104C>T (p.Ser1035Phe)
n.1830+5701G>A
c.7130C>T (p.Ser2377Phe)
c.2882C>T (p.Ser961Phe)
c.6110C>T (p.Ser2037Phe)
 ClinVar
8g.99776778T>ACA462449130VPS13Bc.7326T>A (p.Ser2442=)
n.7396T>A
c.*3008T>A (n.*3008T>A)
c.7251T>A (p.Ser2417=)
n.378-1904T>A
c.7323T>A (p.Ser2441=)
c.7248T>A (p.Ser2416=)
c.6948T>A (p.Ser2316=)
c.4212T>A (p.Ser1404=)
c.3105T>A (p.Ser1035=)
n.1830+5700A>T
c.7131T>A (p.Ser2377=)
c.2883T>A (p.Ser961=)
c.6111T>A (p.Ser2037=)
8g.99776778T>CCA462449131VPS13Bc.7326T>C (p.Ser2442=)
n.7396T>C
c.*3008T>C (n.*3008T>C)
c.7251T>C (p.Ser2417=)
n.378-1904T>C
c.7323T>C (p.Ser2441=)
c.7248T>C (p.Ser2416=)
c.6948T>C (p.Ser2316=)
c.4212T>C (p.Ser1404=)
c.3105T>C (p.Ser1035=)
n.1830+5700A>G
c.7131T>C (p.Ser2377=)
c.2883T>C (p.Ser961=)
c.6111T>C (p.Ser2037=)
8g.99776778T>GCA462449132VPS13Bc.7326T>G (p.Ser2442=)
n.7396T>G
c.*3008T>G (n.*3008T>G)
c.7251T>G (p.Ser2417=)
n.378-1904T>G
c.7323T>G (p.Ser2441=)
c.7248T>G (p.Ser2416=)
c.6948T>G (p.Ser2316=)
c.4212T>G (p.Ser1404=)
c.3105T>G (p.Ser1035=)
n.1830+5700A>C
c.7131T>G (p.Ser2377=)
c.2883T>G (p.Ser961=)
c.6111T>G (p.Ser2037=)
8g.99776779G>ACA371875542VPS13Bc.7327G>A (p.Ala2443Thr)
n.7397G>A
c.*3009G>A (n.*3009G>A)
c.7252G>A (p.Ala2418Thr)
n.378-1903G>A
c.7324G>A (p.Ala2442Thr)
c.7249G>A (p.Ala2417Thr)
c.6949G>A (p.Ala2317Thr)
c.4213G>A (p.Ala1405Thr)
c.3106G>A (p.Ala1036Thr)
n.1830+5699C>T
c.7132G>A (p.Ala2378Thr)
c.2884G>A (p.Ala962Thr)
c.6112G>A (p.Ala2038Thr)
8g.99776779G>CCA371875543VPS13Bc.7327G>C (p.Ala2443Pro)
n.7397G>C
c.*3009G>C (n.*3009G>C)
c.7252G>C (p.Ala2418Pro)
n.378-1903G>C
c.7324G>C (p.Ala2442Pro)
c.7249G>C (p.Ala2417Pro)
c.6949G>C (p.Ala2317Pro)
c.4213G>C (p.Ala1405Pro)
c.3106G>C (p.Ala1036Pro)
n.1830+5699C>G
c.7132G>C (p.Ala2378Pro)
c.2884G>C (p.Ala962Pro)
c.6112G>C (p.Ala2038Pro)
8g.99776779G>TCA371875544VPS13Bc.7327G>T (p.Ala2443Ser)
n.7397G>T
c.*3009G>T (n.*3009G>T)
c.7252G>T (p.Ala2418Ser)
n.378-1903G>T
c.7324G>T (p.Ala2442Ser)
c.7249G>T (p.Ala2417Ser)
c.6949G>T (p.Ala2317Ser)
c.4213G>T (p.Ala1405Ser)
c.3106G>T (p.Ala1036Ser)
n.1830+5699C>A
c.7132G>T (p.Ala2378Ser)
c.2884G>T (p.Ala962Ser)
c.6112G>T (p.Ala2038Ser)
 gnomAD v4
8g.99776780C>ACA371875545VPS13Bc.7328C>A (p.Ala2443Glu)
n.7398C>A
c.*3010C>A (n.*3010C>A)
c.7253C>A (p.Ala2418Glu)
n.378-1902C>A
c.7325C>A (p.Ala2442Glu)
c.7250C>A (p.Ala2417Glu)
c.6950C>A (p.Ala2317Glu)
c.4214C>A (p.Ala1405Glu)
c.3107C>A (p.Ala1036Glu)
n.1830+5698G>T
c.7133C>A (p.Ala2378Glu)
c.2885C>A (p.Ala962Glu)
c.6113C>A (p.Ala2038Glu)
8g.99776780C>GCA371875546VPS13Bc.7328C>G (p.Ala2443Gly)
n.7398C>G
c.*3010C>G (n.*3010C>G)
c.7253C>G (p.Ala2418Gly)
n.378-1902C>G
c.7325C>G (p.Ala2442Gly)
c.7250C>G (p.Ala2417Gly)
c.6950C>G (p.Ala2317Gly)
c.4214C>G (p.Ala1405Gly)
c.3107C>G (p.Ala1036Gly)
n.1830+5698G>C
c.7133C>G (p.Ala2378Gly)
c.2885C>G (p.Ala962Gly)
c.6113C>G (p.Ala2038Gly)
8g.99776780C>TCA371875547VPS13Bc.7328C>T (p.Ala2443Val)
n.7398C>T
c.*3010C>T (n.*3010C>T)
c.7253C>T (p.Ala2418Val)
n.378-1902C>T
c.7325C>T (p.Ala2442Val)
c.7250C>T (p.Ala2417Val)
c.6950C>T (p.Ala2317Val)
c.4214C>T (p.Ala1405Val)
c.3107C>T (p.Ala1036Val)
n.1830+5698G>A
c.7133C>T (p.Ala2378Val)
c.2885C>T (p.Ala962Val)
c.6113C>T (p.Ala2038Val)
8g.99776781A>CCA462449133VPS13Bc.7329A>C (p.Ala2443=)
n.7399A>C
c.*3011A>C (n.*3011A>C)
c.7254A>C (p.Ala2418=)
n.378-1901A>C
c.7326A>C (p.Ala2442=)
c.7251A>C (p.Ala2417=)
c.6951A>C (p.Ala2317=)
c.4215A>C (p.Ala1405=)
c.3108A>C (p.Ala1036=)
n.1830+5697T>G
c.7134A>C (p.Ala2378=)
c.2886A>C (p.Ala962=)
c.6114A>C (p.Ala2038=)
8g.99776781A>GCA462449134VPS13Bc.7329A>G (p.Ala2443=)
n.7399A>G
c.*3011A>G (n.*3011A>G)
c.7254A>G (p.Ala2418=)
n.378-1901A>G
c.7326A>G (p.Ala2442=)
c.7251A>G (p.Ala2417=)
c.6951A>G (p.Ala2317=)
c.4215A>G (p.Ala1405=)
c.3108A>G (p.Ala1036=)
n.1830+5697T>C
c.7134A>G (p.Ala2378=)
c.2886A>G (p.Ala962=)
c.6114A>G (p.Ala2038=)
8g.99776781A>TCA462449135VPS13Bc.7329A>T (p.Ala2443=)
n.7399A>T
c.*3011A>T (n.*3011A>T)
c.7254A>T (p.Ala2418=)
n.378-1901A>T
c.7326A>T (p.Ala2442=)
c.7251A>T (p.Ala2417=)
c.6951A>T (p.Ala2317=)
c.4215A>T (p.Ala1405=)
c.3108A>T (p.Ala1036=)
n.1830+5697T>A
c.7134A>T (p.Ala2378=)
c.2886A>T (p.Ala962=)
c.6114A>T (p.Ala2038=)
8g.99776782A>CCA371875548VPS13Bc.7330A>C (p.Ser2444Arg)
n.7400A>C
c.*3012A>C (n.*3012A>C)
c.7255A>C (p.Ser2419Arg)
n.378-1900A>C
c.7327A>C (p.Ser2443Arg)
c.7252A>C (p.Ser2418Arg)
c.6952A>C (p.Ser2318Arg)
c.4216A>C (p.Ser1406Arg)
c.3109A>C (p.Ser1037Arg)
n.1830+5696T>G
c.7135A>C (p.Ser2379Arg)
c.2887A>C (p.Ser963Arg)
c.6115A>C (p.Ser2039Arg)
8g.99776782A>GCA371875549VPS13Bc.7330A>G (p.Ser2444Gly)
n.7400A>G
c.*3012A>G (n.*3012A>G)
c.7255A>G (p.Ser2419Gly)
n.378-1900A>G
c.7327A>G (p.Ser2443Gly)
c.7252A>G (p.Ser2418Gly)
c.6952A>G (p.Ser2318Gly)
c.4216A>G (p.Ser1406Gly)
c.3109A>G (p.Ser1037Gly)
n.1830+5696T>C
c.7135A>G (p.Ser2379Gly)
c.2887A>G (p.Ser963Gly)
c.6115A>G (p.Ser2039Gly)
 dbSNP
8g.99776782A>TCA371875550VPS13Bc.7330A>T (p.Ser2444Cys)
n.7400A>T
c.*3012A>T (n.*3012A>T)
c.7255A>T (p.Ser2419Cys)
n.378-1900A>T
c.7327A>T (p.Ser2443Cys)
c.7252A>T (p.Ser2418Cys)
c.6952A>T (p.Ser2318Cys)
c.4216A>T (p.Ser1406Cys)
c.3109A>T (p.Ser1037Cys)
n.1830+5696T>A
c.7135A>T (p.Ser2379Cys)
c.2887A>T (p.Ser963Cys)
c.6115A>T (p.Ser2039Cys)
8g.99776783G>ACA183041700VPS13Bc.7331G>A (p.Ser2444Asn)
n.7401G>A
c.*3013G>A (n.*3013G>A)
c.7256G>A (p.Ser2419Asn)
n.378-1899G>A
c.7328G>A (p.Ser2443Asn)
c.7253G>A (p.Ser2418Asn)
c.6953G>A (p.Ser2318Asn)
c.4217G>A (p.Ser1406Asn)
c.3110G>A (p.Ser1037Asn)
n.1830+5695C>T
c.7136G>A (p.Ser2379Asn)
c.2888G>A (p.Ser963Asn)
c.6116G>A (p.Ser2039Asn)
 dbSNP
8g.99776783G>CCA371875552VPS13Bc.7331G>C (p.Ser2444Thr)
n.7401G>C
c.*3013G>C (n.*3013G>C)
c.7256G>C (p.Ser2419Thr)
n.378-1899G>C
c.7328G>C (p.Ser2443Thr)
c.7253G>C (p.Ser2418Thr)
c.6953G>C (p.Ser2318Thr)
c.4217G>C (p.Ser1406Thr)
c.3110G>C (p.Ser1037Thr)
n.1830+5695C>G
c.7136G>C (p.Ser2379Thr)
c.2888G>C (p.Ser963Thr)
c.6116G>C (p.Ser2039Thr)
8g.99776783G>TCA371875551VPS13Bc.7331G>T (p.Ser2444Ile)
n.7401G>T
c.*3013G>T (n.*3013G>T)
c.7256G>T (p.Ser2419Ile)
n.378-1899G>T
c.7328G>T (p.Ser2443Ile)
c.7253G>T (p.Ser2418Ile)
c.6953G>T (p.Ser2318Ile)
c.4217G>T (p.Ser1406Ile)
c.3110G>T (p.Ser1037Ile)
n.1830+5695C>A
c.7136G>T (p.Ser2379Ile)
c.2888G>T (p.Ser963Ile)
c.6116G>T (p.Ser2039Ile)
 gnomAD v4
8g.99776784T>ACA371875553VPS13Bc.7332T>A (p.Ser2444Arg)
n.7402T>A
c.*3014T>A (n.*3014T>A)
c.7257T>A (p.Ser2419Arg)
n.378-1898T>A
c.7329T>A (p.Ser2443Arg)
c.7254T>A (p.Ser2418Arg)
c.6954T>A (p.Ser2318Arg)
c.4218T>A (p.Ser1406Arg)
c.3111T>A (p.Ser1037Arg)
n.1830+5694A>T
c.7137T>A (p.Ser2379Arg)
c.2889T>A (p.Ser963Arg)
c.6117T>A (p.Ser2039Arg)
8g.99776784T>CCA462449136VPS13Bc.7332T>C (p.Ser2444=)
n.7402T>C
c.*3014T>C (n.*3014T>C)
c.7257T>C (p.Ser2419=)
n.378-1898T>C
c.7329T>C (p.Ser2443=)
c.7254T>C (p.Ser2418=)
c.6954T>C (p.Ser2318=)
c.4218T>C (p.Ser1406=)
c.3111T>C (p.Ser1037=)
n.1830+5694A>G
c.7137T>C (p.Ser2379=)
c.2889T>C (p.Ser963=)
c.6117T>C (p.Ser2039=)
8g.99776784T>GCA371875554VPS13Bc.7332T>G (p.Ser2444Arg)
n.7402T>G
c.*3014T>G (n.*3014T>G)
c.7257T>G (p.Ser2419Arg)
n.378-1898T>G
c.7329T>G (p.Ser2443Arg)
c.7254T>G (p.Ser2418Arg)
c.6954T>G (p.Ser2318Arg)
c.4218T>G (p.Ser1406Arg)
c.3111T>G (p.Ser1037Arg)
n.1830+5694A>C
c.7137T>G (p.Ser2379Arg)
c.2889T>G (p.Ser963Arg)
c.6117T>G (p.Ser2039Arg)
 gnomAD v4
8g.99776785G>ACA371875555VPS13Bc.7333G>A (p.Glu2445Lys)
n.7403G>A
c.*3015G>A (n.*3015G>A)
c.7258G>A (p.Glu2420Lys)
n.378-1897G>A
c.7330G>A (p.Glu2444Lys)
c.7255G>A (p.Glu2419Lys)
c.6955G>A (p.Glu2319Lys)
c.4219G>A (p.Glu1407Lys)
c.3112G>A (p.Glu1038Lys)
n.1830+5693C>T
c.7138G>A (p.Glu2380Lys)
c.2890G>A (p.Glu964Lys)
c.6118G>A (p.Glu2040Lys)
 dbSNP gnomAD v4
8g.99776785G>CCA371875556VPS13Bc.7333G>C (p.Glu2445Gln)
n.7403G>C
c.*3015G>C (n.*3015G>C)
c.7258G>C (p.Glu2420Gln)
n.378-1897G>C
c.7330G>C (p.Glu2444Gln)
c.7255G>C (p.Glu2419Gln)
c.6955G>C (p.Glu2319Gln)
c.4219G>C (p.Glu1407Gln)
c.3112G>C (p.Glu1038Gln)
n.1830+5693C>G
c.7138G>C (p.Glu2380Gln)
c.2890G>C (p.Glu964Gln)
c.6118G>C (p.Glu2040Gln)
8g.99776785G>TCA371875557VPS13Bc.7333G>T (p.Glu2445Ter)
n.7403G>T
c.*3015G>T (n.*3015G>T)
c.7258G>T (p.Glu2420Ter)
n.378-1897G>T
c.7330G>T (p.Glu2444Ter)
c.7255G>T (p.Glu2419Ter)
c.6955G>T (p.Glu2319Ter)
c.4219G>T (p.Glu1407Ter)
c.3112G>T (p.Glu1038Ter)
n.1830+5693C>A
c.7138G>T (p.Glu2380Ter)
c.2890G>T (p.Glu964Ter)
c.6118G>T (p.Glu2040Ter)
 gnomAD v4
8g.99776786A>CCA371875560VPS13Bc.7334A>C (p.Glu2445Ala)
n.7404A>C
c.*3016A>C (n.*3016A>C)
c.7259A>C (p.Glu2420Ala)
n.378-1896A>C
c.7331A>C (p.Glu2444Ala)
c.7256A>C (p.Glu2419Ala)
c.6956A>C (p.Glu2319Ala)
c.4220A>C (p.Glu1407Ala)
c.3113A>C (p.Glu1038Ala)
n.1830+5692T>G
c.7139A>C (p.Glu2380Ala)
c.2891A>C (p.Glu964Ala)
c.6119A>C (p.Glu2040Ala)
8g.99776786A>GCA371875558VPS13Bc.7334A>G (p.Glu2445Gly)
n.7404A>G
c.*3016A>G (n.*3016A>G)
c.7259A>G (p.Glu2420Gly)
n.378-1896A>G
c.7331A>G (p.Glu2444Gly)
c.7256A>G (p.Glu2419Gly)
c.6956A>G (p.Glu2319Gly)
c.4220A>G (p.Glu1407Gly)
c.3113A>G (p.Glu1038Gly)
n.1830+5692T>C
c.7139A>G (p.Glu2380Gly)
c.2891A>G (p.Glu964Gly)
c.6119A>G (p.Glu2040Gly)
 ClinVar dbSNP gnomAD v4
8g.99776786A>TCA371875559VPS13Bc.7334A>T (p.Glu2445Val)
n.7404A>T
c.*3016A>T (n.*3016A>T)
c.7259A>T (p.Glu2420Val)
n.378-1896A>T
c.7331A>T (p.Glu2444Val)
c.7256A>T (p.Glu2419Val)
c.6956A>T (p.Glu2319Val)
c.4220A>T (p.Glu1407Val)
c.3113A>T (p.Glu1038Val)
n.1830+5692T>A
c.7139A>T (p.Glu2380Val)
c.2891A>T (p.Glu964Val)
c.6119A>T (p.Glu2040Val)
8g.99776787G>ACA462449137VPS13Bc.7335G>A (p.Glu2445=)
n.7405G>A
c.*3017G>A (n.*3017G>A)
c.7260G>A (p.Glu2420=)
n.378-1895G>A
c.7332G>A (p.Glu2444=)
c.7257G>A (p.Glu2419=)
c.6957G>A (p.Glu2319=)
c.4221G>A (p.Glu1407=)
c.3114G>A (p.Glu1038=)
n.1830+5691C>T
c.7140G>A (p.Glu2380=)
c.2892G>A (p.Glu964=)
c.6120G>A (p.Glu2040=)
8g.99776787G>CCA371875561VPS13Bc.7335G>C (p.Glu2445Asp)
n.7405G>C
c.*3017G>C (n.*3017G>C)
c.7260G>C (p.Glu2420Asp)
n.378-1895G>C
c.7332G>C (p.Glu2444Asp)
c.7257G>C (p.Glu2419Asp)
c.6957G>C (p.Glu2319Asp)
c.4221G>C (p.Glu1407Asp)
c.3114G>C (p.Glu1038Asp)
n.1830+5691C>G
c.7140G>C (p.Glu2380Asp)
c.2892G>C (p.Glu964Asp)
c.6120G>C (p.Glu2040Asp)
8g.99776787G>TCA371875562VPS13Bc.7335G>T (p.Glu2445Asp)
n.7405G>T
c.*3017G>T (n.*3017G>T)
c.7260G>T (p.Glu2420Asp)
n.378-1895G>T
c.7332G>T (p.Glu2444Asp)
c.7257G>T (p.Glu2419Asp)
c.6957G>T (p.Glu2319Asp)
c.4221G>T (p.Glu1407Asp)
c.3114G>T (p.Glu1038Asp)
n.1830+5691C>A
c.7140G>T (p.Glu2380Asp)
c.2892G>T (p.Glu964Asp)
c.6120G>T (p.Glu2040Asp)
 gnomAD v4
8g.99776788T>ACA371875563VPS13Bc.7336T>A (p.Ser2446Thr)
n.7406T>A
c.*3018T>A (n.*3018T>A)
c.7261T>A (p.Ser2421Thr)
n.378-1894T>A
c.7333T>A (p.Ser2445Thr)
c.7258T>A (p.Ser2420Thr)
c.6958T>A (p.Ser2320Thr)
c.4222T>A (p.Ser1408Thr)
c.3115T>A (p.Ser1039Thr)
n.1830+5690A>T
c.7141T>A (p.Ser2381Thr)
c.2893T>A (p.Ser965Thr)
c.6121T>A (p.Ser2041Thr)
8g.99776788T>CCA371875564VPS13Bc.7336T>C (p.Ser2446Pro)
n.7406T>C
c.*3018T>C (n.*3018T>C)
c.7261T>C (p.Ser2421Pro)
n.378-1894T>C
c.7333T>C (p.Ser2445Pro)
c.7258T>C (p.Ser2420Pro)
c.6958T>C (p.Ser2320Pro)
c.4222T>C (p.Ser1408Pro)
c.3115T>C (p.Ser1039Pro)
n.1830+5690A>G
c.7141T>C (p.Ser2381Pro)
c.2893T>C (p.Ser965Pro)
c.6121T>C (p.Ser2041Pro)
8g.99776788T>GCA371875565VPS13Bc.7336T>G (p.Ser2446Ala)
n.7406T>G
c.*3018T>G (n.*3018T>G)
c.7261T>G (p.Ser2421Ala)
n.378-1894T>G
c.7333T>G (p.Ser2445Ala)
c.7258T>G (p.Ser2420Ala)
c.6958T>G (p.Ser2320Ala)
c.4222T>G (p.Ser1408Ala)
c.3115T>G (p.Ser1039Ala)
n.1830+5690A>C
c.7141T>G (p.Ser2381Ala)
c.2893T>G (p.Ser965Ala)
c.6121T>G (p.Ser2041Ala)
8g.99776789C>ACA371875566VPS13Bc.7337C>A (p.Ser2446Tyr)
n.7407C>A
c.*3019C>A (n.*3019C>A)
c.7262C>A (p.Ser2421Tyr)
n.378-1893C>A
c.7334C>A (p.Ser2445Tyr)
c.7259C>A (p.Ser2420Tyr)
c.6959C>A (p.Ser2320Tyr)
c.4223C>A (p.Ser1408Tyr)
c.3116C>A (p.Ser1039Tyr)
n.1830+5689G>T
c.7142C>A (p.Ser2381Tyr)
c.2894C>A (p.Ser965Tyr)
c.6122C>A (p.Ser2041Tyr)
8g.99776789C>GCA183041702VPS13Bc.7337C>G (p.Ser2446Cys)
n.7407C>G
c.*3019C>G (n.*3019C>G)
c.7262C>G (p.Ser2421Cys)
n.378-1893C>G
c.7334C>G (p.Ser2445Cys)
c.7259C>G (p.Ser2420Cys)
c.6959C>G (p.Ser2320Cys)
c.4223C>G (p.Ser1408Cys)
c.3116C>G (p.Ser1039Cys)
n.1830+5689G>C
c.7142C>G (p.Ser2381Cys)
c.2894C>G (p.Ser965Cys)
c.6122C>G (p.Ser2041Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.99776789C>TCA371875567VPS13Bc.7337C>T (p.Ser2446Phe)
n.7407C>T
c.*3019C>T (n.*3019C>T)
c.7262C>T (p.Ser2421Phe)
n.378-1893C>T
c.7334C>T (p.Ser2445Phe)
c.7259C>T (p.Ser2420Phe)
c.6959C>T (p.Ser2320Phe)
c.4223C>T (p.Ser1408Phe)
c.3116C>T (p.Ser1039Phe)
n.1830+5689G>A
c.7142C>T (p.Ser2381Phe)
c.2894C>T (p.Ser965Phe)
c.6122C>T (p.Ser2041Phe)
8g.99776790T>ACA462449138VPS13Bc.7338T>A (p.Ser2446=)
n.7408T>A
c.*3020T>A (n.*3020T>A)
c.7263T>A (p.Ser2421=)
n.378-1892T>A
c.7335T>A (p.Ser2445=)
c.7260T>A (p.Ser2420=)
c.6960T>A (p.Ser2320=)
c.4224T>A (p.Ser1408=)
c.3117T>A (p.Ser1039=)
n.1830+5688A>T
c.7143T>A (p.Ser2381=)
c.2895T>A (p.Ser965=)
c.6123T>A (p.Ser2041=)
8g.99776790T>CCA462449139VPS13Bc.7338T>C (p.Ser2446=)
n.7408T>C
c.*3020T>C (n.*3020T>C)
c.7263T>C (p.Ser2421=)
n.378-1892T>C
c.7335T>C (p.Ser2445=)
c.7260T>C (p.Ser2420=)
c.6960T>C (p.Ser2320=)
c.4224T>C (p.Ser1408=)
c.3117T>C (p.Ser1039=)
n.1830+5688A>G
c.7143T>C (p.Ser2381=)
c.2895T>C (p.Ser965=)
c.6123T>C (p.Ser2041=)
 ClinVar
8g.99776790T>GCA462449140VPS13Bc.7338T>G (p.Ser2446=)
n.7408T>G
c.*3020T>G (n.*3020T>G)
c.7263T>G (p.Ser2421=)
n.378-1892T>G
c.7335T>G (p.Ser2445=)
c.7260T>G (p.Ser2420=)
c.6960T>G (p.Ser2320=)
c.4224T>G (p.Ser1408=)
c.3117T>G (p.Ser1039=)
n.1830+5688A>C
c.7143T>G (p.Ser2381=)
c.2895T>G (p.Ser965=)
c.6123T>G (p.Ser2041=)
8g.99776791G>ACA371875568VPS13Bc.7339G>A (p.Gly2447Ser)
n.7409G>A
c.*3021G>A (n.*3021G>A)
c.7264G>A (p.Gly2422Ser)
n.378-1891G>A
c.7336G>A (p.Gly2446Ser)
c.7261G>A (p.Gly2421Ser)
c.6961G>A (p.Gly2321Ser)
c.4225G>A (p.Gly1409Ser)
c.3118G>A (p.Gly1040Ser)
n.1830+5687C>T
c.7144G>A (p.Gly2382Ser)
c.2896G>A (p.Gly966Ser)
c.6124G>A (p.Gly2042Ser)
8g.99776791G>CCA371875570VPS13Bc.7339G>C (p.Gly2447Arg)
n.7409G>C
c.*3021G>C (n.*3021G>C)
c.7264G>C (p.Gly2422Arg)
n.378-1891G>C
c.7336G>C (p.Gly2446Arg)
c.7261G>C (p.Gly2421Arg)
c.6961G>C (p.Gly2321Arg)
c.4225G>C (p.Gly1409Arg)
c.3118G>C (p.Gly1040Arg)
n.1830+5687C>G
c.7144G>C (p.Gly2382Arg)
c.2896G>C (p.Gly966Arg)
c.6124G>C (p.Gly2042Arg)
8g.99776791G>TCA371875569VPS13Bc.7339G>T (p.Gly2447Cys)
n.7409G>T
c.*3021G>T (n.*3021G>T)
c.7264G>T (p.Gly2422Cys)
n.378-1891G>T
c.7336G>T (p.Gly2446Cys)
c.7261G>T (p.Gly2421Cys)
c.6961G>T (p.Gly2321Cys)
c.4225G>T (p.Gly1409Cys)
c.3118G>T (p.Gly1040Cys)
n.1830+5687C>A
c.7144G>T (p.Gly2382Cys)
c.2896G>T (p.Gly966Cys)
c.6124G>T (p.Gly2042Cys)
8g.99776792G>ACA371875571VPS13Bc.7340G>A (p.Gly2447Asp)
n.7410G>A
c.*3022G>A (n.*3022G>A)
c.7265G>A (p.Gly2422Asp)
n.378-1890G>A
c.7337G>A (p.Gly2446Asp)
c.7262G>A (p.Gly2421Asp)
c.6962G>A (p.Gly2321Asp)
c.4226G>A (p.Gly1409Asp)
c.3119G>A (p.Gly1040Asp)
n.1830+5686C>T
c.7145G>A (p.Gly2382Asp)
c.2897G>A (p.Gly966Asp)
c.6125G>A (p.Gly2042Asp)
8g.99776792G>CCA371875572VPS13Bc.7340G>C (p.Gly2447Ala)
n.7410G>C
c.*3022G>C (n.*3022G>C)
c.7265G>C (p.Gly2422Ala)
n.378-1890G>C
c.7337G>C (p.Gly2446Ala)
c.7262G>C (p.Gly2421Ala)
c.6962G>C (p.Gly2321Ala)
c.4226G>C (p.Gly1409Ala)
c.3119G>C (p.Gly1040Ala)
n.1830+5686C>G
c.7145G>C (p.Gly2382Ala)
c.2897G>C (p.Gly966Ala)
c.6125G>C (p.Gly2042Ala)
8g.99776792G>TCA371875573VPS13Bc.7340G>T (p.Gly2447Val)
n.7410G>T
c.*3022G>T (n.*3022G>T)
c.7265G>T (p.Gly2422Val)
n.378-1890G>T
c.7337G>T (p.Gly2446Val)
c.7262G>T (p.Gly2421Val)
c.6962G>T (p.Gly2321Val)
c.4226G>T (p.Gly1409Val)
c.3119G>T (p.Gly1040Val)
n.1830+5686C>A
c.7145G>T (p.Gly2382Val)
c.2897G>T (p.Gly966Val)
c.6125G>T (p.Gly2042Val)
8g.99776793T>ACA462449141VPS13Bc.7341T>A (p.Gly2447=)
n.7411T>A
c.*3023T>A (n.*3023T>A)
c.7266T>A (p.Gly2422=)
n.378-1889T>A
c.7338T>A (p.Gly2446=)
c.7263T>A (p.Gly2421=)
c.6963T>A (p.Gly2321=)
c.4227T>A (p.Gly1409=)
c.3120T>A (p.Gly1040=)
n.1830+5685A>T
c.7146T>A (p.Gly2382=)
c.2898T>A (p.Gly966=)
c.6126T>A (p.Gly2042=)
8g.99776793T>CCA4824186VPS13Bc.7341T>C (p.Gly2447=)
n.7411T>C
c.*3023T>C (n.*3023T>C)
c.7266T>C (p.Gly2422=)
n.378-1889T>C
c.7338T>C (p.Gly2446=)
c.7263T>C (p.Gly2421=)
c.6963T>C (p.Gly2321=)
c.4227T>C (p.Gly1409=)
c.3120T>C (p.Gly1040=)
n.1830+5685A>G
c.7146T>C (p.Gly2382=)
c.2898T>C (p.Gly966=)
c.6126T>C (p.Gly2042=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.99776793T>GCA462449142VPS13Bc.7341T>G (p.Gly2447=)
n.7411T>G
c.*3023T>G (n.*3023T>G)
c.7266T>G (p.Gly2422=)
n.378-1889T>G
c.7338T>G (p.Gly2446=)
c.7263T>G (p.Gly2421=)
c.6963T>G (p.Gly2321=)
c.4227T>G (p.Gly1409=)
c.3120T>G (p.Gly1040=)
n.1830+5685A>C
c.7146T>G (p.Gly2382=)
c.2898T>G (p.Gly966=)
c.6126T>G (p.Gly2042=)
8g.99776794T>ACA371875574VPS13Bc.7342T>A (p.Ser2448Thr)
n.7412T>A
c.*3024T>A (n.*3024T>A)
c.7267T>A (p.Ser2423Thr)
n.378-1888T>A
c.7339T>A (p.Ser2447Thr)
c.7264T>A (p.Ser2422Thr)
c.6964T>A (p.Ser2322Thr)
c.4228T>A (p.Ser1410Thr)
c.3121T>A (p.Ser1041Thr)
n.1830+5684A>T
c.7147T>A (p.Ser2383Thr)
c.2899T>A (p.Ser967Thr)
c.6127T>A (p.Ser2043Thr)
8g.99776794T>CCA371875575VPS13Bc.7342T>C (p.Ser2448Pro)
n.7412T>C
c.*3024T>C (n.*3024T>C)
c.7267T>C (p.Ser2423Pro)
n.378-1888T>C
c.7339T>C (p.Ser2447Pro)
c.7264T>C (p.Ser2422Pro)
c.6964T>C (p.Ser2322Pro)
c.4228T>C (p.Ser1410Pro)
c.3121T>C (p.Ser1041Pro)
n.1830+5684A>G
c.7147T>C (p.Ser2383Pro)
c.2899T>C (p.Ser967Pro)
c.6127T>C (p.Ser2043Pro)
8g.99776794T>GCA371875576VPS13Bc.7342T>G (p.Ser2448Ala)
n.7412T>G
c.*3024T>G (n.*3024T>G)
c.7267T>G (p.Ser2423Ala)
n.378-1888T>G
c.7339T>G (p.Ser2447Ala)
c.7264T>G (p.Ser2422Ala)
c.6964T>G (p.Ser2322Ala)
c.4228T>G (p.Ser1410Ala)
c.3121T>G (p.Ser1041Ala)
n.1830+5684A>C
c.7147T>G (p.Ser2383Ala)
c.2899T>G (p.Ser967Ala)
c.6127T>G (p.Ser2043Ala)
8g.99776795C>ACA371875577VPS13Bc.7343C>A (p.Ser2448Tyr)
n.7413C>A
c.*3025C>A (n.*3025C>A)
c.7268C>A (p.Ser2423Tyr)
n.378-1887C>A
c.7340C>A (p.Ser2447Tyr)
c.7265C>A (p.Ser2422Tyr)
c.6965C>A (p.Ser2322Tyr)
c.4229C>A (p.Ser1410Tyr)
c.3122C>A (p.Ser1041Tyr)
n.1830+5683G>T
c.7148C>A (p.Ser2383Tyr)
c.2900C>A (p.Ser967Tyr)
c.6128C>A (p.Ser2043Tyr)
8g.99776795C>GCA371875578VPS13Bc.7343C>G (p.Ser2448Cys)
n.7413C>G
c.*3025C>G (n.*3025C>G)
c.7268C>G (p.Ser2423Cys)
n.378-1887C>G
c.7340C>G (p.Ser2447Cys)
c.7265C>G (p.Ser2422Cys)
c.6965C>G (p.Ser2322Cys)
c.4229C>G (p.Ser1410Cys)
c.3122C>G (p.Ser1041Cys)
n.1830+5683G>C
c.7148C>G (p.Ser2383Cys)
c.2900C>G (p.Ser967Cys)
c.6128C>G (p.Ser2043Cys)
8g.99776795C>TCA371875579VPS13Bc.7343C>T (p.Ser2448Phe)
n.7413C>T
c.*3025C>T (n.*3025C>T)
c.7268C>T (p.Ser2423Phe)
n.378-1887C>T
c.7340C>T (p.Ser2447Phe)
c.7265C>T (p.Ser2422Phe)
c.6965C>T (p.Ser2322Phe)
c.4229C>T (p.Ser1410Phe)
c.3122C>T (p.Ser1041Phe)
n.1830+5683G>A
c.7148C>T (p.Ser2383Phe)
c.2900C>T (p.Ser967Phe)
c.6128C>T (p.Ser2043Phe)
8g.99776796T>ACA462449143VPS13Bc.7344T>A (p.Ser2448=)
n.7414T>A
c.*3026T>A (n.*3026T>A)
c.7269T>A (p.Ser2423=)
n.378-1886T>A
c.7341T>A (p.Ser2447=)
c.7266T>A (p.Ser2422=)
c.6966T>A (p.Ser2322=)
c.4230T>A (p.Ser1410=)
c.3123T>A (p.Ser1041=)
n.1830+5682A>T
c.7149T>A (p.Ser2383=)
c.2901T>A (p.Ser967=)
c.6129T>A (p.Ser2043=)
 dbSNP gnomAD v3 gnomAD v4
8g.99776796T>CCA462449144VPS13Bc.7344T>C (p.Ser2448=)
n.7414T>C
c.*3026T>C (n.*3026T>C)
c.7269T>C (p.Ser2423=)
n.378-1886T>C
c.7341T>C (p.Ser2447=)
c.7266T>C (p.Ser2422=)
c.6966T>C (p.Ser2322=)
c.4230T>C (p.Ser1410=)
c.3123T>C (p.Ser1041=)
n.1830+5682A>G
c.7149T>C (p.Ser2383=)
c.2901T>C (p.Ser967=)
c.6129T>C (p.Ser2043=)
8g.99776796T>GCA462449145VPS13Bc.7344T>G (p.Ser2448=)
n.7414T>G
c.*3026T>G (n.*3026T>G)
c.7269T>G (p.Ser2423=)
n.378-1886T>G
c.7341T>G (p.Ser2447=)
c.7266T>G (p.Ser2422=)
c.6966T>G (p.Ser2322=)
c.4230T>G (p.Ser1410=)
c.3123T>G (p.Ser1041=)
n.1830+5682A>C
c.7149T>G (p.Ser2383=)
c.2901T>G (p.Ser967=)
c.6129T>G (p.Ser2043=)
8g.99776797C>ACA371875582VPS13Bc.7345C>A (p.Gln2449Lys)
n.7415C>A
c.*3027C>A (n.*3027C>A)
c.7270C>A (p.Gln2424Lys)
n.378-1885C>A
c.7342C>A (p.Gln2448Lys)
c.7267C>A (p.Gln2423Lys)
c.6967C>A (p.Gln2323Lys)
c.4231C>A (p.Gln1411Lys)
c.3124C>A (p.Gln1042Lys)
n.1830+5681G>T
c.7150C>A (p.Gln2384Lys)
c.2902C>A (p.Gln968Lys)
c.6130C>A (p.Gln2044Lys)
8g.99776797C>GCA371875581VPS13Bc.7345C>G (p.Gln2449Glu)
n.7415C>G
c.*3027C>G (n.*3027C>G)
c.7270C>G (p.Gln2424Glu)
n.378-1885C>G
c.7342C>G (p.Gln2448Glu)
c.7267C>G (p.Gln2423Glu)
c.6967C>G (p.Gln2323Glu)
c.4231C>G (p.Gln1411Glu)
c.3124C>G (p.Gln1042Glu)
n.1830+5681G>C
c.7150C>G (p.Gln2384Glu)
c.2902C>G (p.Gln968Glu)
c.6130C>G (p.Gln2044Glu)
8g.99776797C>TCA371875580VPS13Bc.7345C>T (p.Gln2449Ter)
n.7415C>T
c.*3027C>T (n.*3027C>T)
c.7270C>T (p.Gln2424Ter)
n.378-1885C>T
c.7342C>T (p.Gln2448Ter)
c.7267C>T (p.Gln2423Ter)
c.6967C>T (p.Gln2323Ter)
c.4231C>T (p.Gln1411Ter)
c.3124C>T (p.Gln1042Ter)
n.1830+5681G>A
c.7150C>T (p.Gln2384Ter)
c.2902C>T (p.Gln968Ter)
c.6130C>T (p.Gln2044Ter)
 dbSNP gnomAD v4
8g.99776798A>CCA371875583VPS13Bc.7346A>C (p.Gln2449Pro)
n.7416A>C
c.*3028A>C (n.*3028A>C)
c.7271A>C (p.Gln2424Pro)
n.378-1884A>C
c.7343A>C (p.Gln2448Pro)
c.7268A>C (p.Gln2423Pro)
c.6968A>C (p.Gln2323Pro)
c.4232A>C (p.Gln1411Pro)
c.3125A>C (p.Gln1042Pro)
n.1830+5680T>G
c.7151A>C (p.Gln2384Pro)
c.2903A>C (p.Gln968Pro)
c.6131A>C (p.Gln2044Pro)
8g.99776798A>GCA371875584VPS13Bc.7346A>G (p.Gln2449Arg)
n.7416A>G
c.*3028A>G (n.*3028A>G)
c.7271A>G (p.Gln2424Arg)
n.378-1884A>G
c.7343A>G (p.Gln2448Arg)
c.7268A>G (p.Gln2423Arg)
c.6968A>G (p.Gln2323Arg)
c.4232A>G (p.Gln1411Arg)
c.3125A>G (p.Gln1042Arg)
n.1830+5680T>C
c.7151A>G (p.Gln2384Arg)
c.2903A>G (p.Gln968Arg)
c.6131A>G (p.Gln2044Arg)
8g.99776798A>TCA371875585VPS13Bc.7346A>T (p.Gln2449Leu)
n.7416A>T
c.*3028A>T (n.*3028A>T)
c.7271A>T (p.Gln2424Leu)
n.378-1884A>T
c.7343A>T (p.Gln2448Leu)
c.7268A>T (p.Gln2423Leu)
c.6968A>T (p.Gln2323Leu)
c.4232A>T (p.Gln1411Leu)
c.3125A>T (p.Gln1042Leu)
n.1830+5680T>A
c.7151A>T (p.Gln2384Leu)
c.2903A>T (p.Gln968Leu)
c.6131A>T (p.Gln2044Leu)
8g.99776800delCA2497230828VPS13Bc.7348del (p.Ser2450AlafsTer7)
n.7418del
c.*3030del (n.*3030del)
c.7273del (p.Ser2425AlafsTer7)
n.378-1882del
c.7345del (p.Ser2449AlafsTer7)
c.7270del (p.Ser2424AlafsTer7)
c.6970del (p.Ser2324AlafsTer7)
c.4234del (p.Ser1412AlafsTer7)
c.3127del (p.Ser1043AlafsTer7)
n.1830+5680del
c.7153del (p.Ser2385AlafsTer7)
c.2905del (p.Ser969AlafsTer7)
c.6133del (p.Ser2045AlafsTer7)
 dbSNP
8g.99776799A>CCA371875586VPS13Bc.7347A>C (p.Gln2449His)
n.7417A>C
c.*3029A>C (n.*3029A>C)
c.7272A>C (p.Gln2424His)
n.378-1883A>C
c.7344A>C (p.Gln2448His)
c.7269A>C (p.Gln2423His)
c.6969A>C (p.Gln2323His)
c.4233A>C (p.Gln1411His)
c.3126A>C (p.Gln1042His)
n.1830+5679T>G
c.7152A>C (p.Gln2384His)
c.2904A>C (p.Gln968His)
c.6132A>C (p.Gln2044His)
8g.99776799A>GCA462449146VPS13Bc.7347A>G (p.Gln2449=)
n.7417A>G
c.*3029A>G (n.*3029A>G)
c.7272A>G (p.Gln2424=)
n.378-1883A>G
c.7344A>G (p.Gln2448=)
c.7269A>G (p.Gln2423=)
c.6969A>G (p.Gln2323=)
c.4233A>G (p.Gln1411=)
c.3126A>G (p.Gln1042=)
n.1830+5679T>C
c.7152A>G (p.Gln2384=)
c.2904A>G (p.Gln968=)
c.6132A>G (p.Gln2044=)
 gnomAD v4
8g.99776799A>TCA371875587VPS13Bc.7347A>T (p.Gln2449His)
n.7417A>T
c.*3029A>T (n.*3029A>T)
c.7272A>T (p.Gln2424His)
n.378-1883A>T
c.7344A>T (p.Gln2448His)
c.7269A>T (p.Gln2423His)
c.6969A>T (p.Gln2323His)
c.4233A>T (p.Gln1411His)
c.3126A>T (p.Gln1042His)
n.1830+5679T>A
c.7152A>T (p.Gln2384His)
c.2904A>T (p.Gln968His)
c.6132A>T (p.Gln2044His)
8g.99776800A>CCA371875588VPS13Bc.7348A>C (p.Ser2450Arg)
n.7418A>C
c.*3030A>C (n.*3030A>C)
c.7273A>C (p.Ser2425Arg)
n.378-1882A>C
c.7345A>C (p.Ser2449Arg)
c.7270A>C (p.Ser2424Arg)
c.6970A>C (p.Ser2324Arg)
c.4234A>C (p.Ser1412Arg)
c.3127A>C (p.Ser1043Arg)
n.1830+5678T>G
c.7153A>C (p.Ser2385Arg)
c.2905A>C (p.Ser969Arg)
c.6133A>C (p.Ser2045Arg)
 ClinVar
8g.99776800A>GCA371875589VPS13Bc.7348A>G (p.Ser2450Gly)
n.7418A>G
c.*3030A>G (n.*3030A>G)
c.7273A>G (p.Ser2425Gly)
n.378-1882A>G
c.7345A>G (p.Ser2449Gly)
c.7270A>G (p.Ser2424Gly)
c.6970A>G (p.Ser2324Gly)
c.4234A>G (p.Ser1412Gly)
c.3127A>G (p.Ser1043Gly)
n.1830+5678T>C
c.7153A>G (p.Ser2385Gly)
c.2905A>G (p.Ser969Gly)
c.6133A>G (p.Ser2045Gly)
8g.99776800A>TCA371875590VPS13Bc.7348A>T (p.Ser2450Cys)
n.7418A>T
c.*3030A>T (n.*3030A>T)
c.7273A>T (p.Ser2425Cys)
n.378-1882A>T
c.7345A>T (p.Ser2449Cys)
c.7270A>T (p.Ser2424Cys)
c.6970A>T (p.Ser2324Cys)
c.4234A>T (p.Ser1412Cys)
c.3127A>T (p.Ser1043Cys)
n.1830+5678T>A
c.7153A>T (p.Ser2385Cys)
c.2905A>T (p.Ser969Cys)
c.6133A>T (p.Ser2045Cys)
8g.99776801G>ACA371875591VPS13Bc.7349G>A (p.Ser2450Asn)
n.7419G>A
c.*3031G>A (n.*3031G>A)
c.7274G>A (p.Ser2425Asn)
n.378-1881G>A
c.7346G>A (p.Ser2449Asn)
c.7271G>A (p.Ser2424Asn)
c.6971G>A (p.Ser2324Asn)
c.4235G>A (p.Ser1412Asn)
c.3128G>A (p.Ser1043Asn)
n.1830+5677C>T
c.7154G>A (p.Ser2385Asn)
c.2906G>A (p.Ser969Asn)
c.6134G>A (p.Ser2045Asn)
8g.99776801G>CCA371875592VPS13Bc.7349G>C (p.Ser2450Thr)
n.7419G>C
c.*3031G>C (n.*3031G>C)
c.7274G>C (p.Ser2425Thr)
n.378-1881G>C
c.7346G>C (p.Ser2449Thr)
c.7271G>C (p.Ser2424Thr)
c.6971G>C (p.Ser2324Thr)
c.4235G>C (p.Ser1412Thr)
c.3128G>C (p.Ser1043Thr)
n.1830+5677C>G
c.7154G>C (p.Ser2385Thr)
c.2906G>C (p.Ser969Thr)
c.6134G>C (p.Ser2045Thr)
8g.99776801G>TCA371875593VPS13Bc.7349G>T (p.Ser2450Ile)
n.7419G>T
c.*3031G>T (n.*3031G>T)
c.7274G>T (p.Ser2425Ile)
n.378-1881G>T
c.7346G>T (p.Ser2449Ile)
c.7271G>T (p.Ser2424Ile)
c.6971G>T (p.Ser2324Ile)
c.4235G>T (p.Ser1412Ile)
c.3128G>T (p.Ser1043Ile)
n.1830+5677C>A
c.7154G>T (p.Ser2385Ile)
c.2906G>T (p.Ser969Ile)
c.6134G>T (p.Ser2045Ile)
8g.99776802C>ACA183041705VPS13Bc.7350C>A (p.Ser2450Arg)
n.7420C>A
c.*3032C>A (n.*3032C>A)
c.7275C>A (p.Ser2425Arg)
n.378-1880C>A
c.7347C>A (p.Ser2449Arg)
c.7272C>A (p.Ser2424Arg)
c.6972C>A (p.Ser2324Arg)
c.4236C>A (p.Ser1412Arg)
c.3129C>A (p.Ser1043Arg)
n.1830+5676G>T
c.7155C>A (p.Ser2385Arg)
c.2907C>A (p.Ser969Arg)
c.6135C>A (p.Ser2045Arg)
 dbSNP
8g.99776802C>GCA371875594VPS13Bc.7350C>G (p.Ser2450Arg)
n.7420C>G
c.*3032C>G (n.*3032C>G)
c.7275C>G (p.Ser2425Arg)
n.378-1880C>G
c.7347C>G (p.Ser2449Arg)
c.7272C>G (p.Ser2424Arg)
c.6972C>G (p.Ser2324Arg)
c.4236C>G (p.Ser1412Arg)
c.3129C>G (p.Ser1043Arg)
n.1830+5676G>C
c.7155C>G (p.Ser2385Arg)
c.2907C>G (p.Ser969Arg)
c.6135C>G (p.Ser2045Arg)
8g.99776802C>TCA4824187VPS13Bc.7350C>T (p.Ser2450=)
n.7420C>T
c.*3032C>T (n.*3032C>T)
c.7275C>T (p.Ser2425=)
n.378-1880C>T
c.7347C>T (p.Ser2449=)
c.7272C>T (p.Ser2424=)
c.6972C>T (p.Ser2324=)
c.4236C>T (p.Ser1412=)
c.3129C>T (p.Ser1043=)
n.1830+5676G>A
c.7155C>T (p.Ser2385=)
c.2907C>T (p.Ser969=)
c.6135C>T (p.Ser2045=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99776811_99776821dupCA2497230829VPS13Bc.7359_7369dup (p.Thr2457IlefsTer4)
n.7429_7439dup
c.*3041_*3051dup (n.*3041_*3051dup)
c.7284_7294dup (p.Thr2432IlefsTer4)
n.378-1871_378-1861dup
c.7356_7366dup (p.Thr2456IlefsTer4)
c.7281_7291dup (p.Thr2431IlefsTer4)
c.6981_6991dup (p.Thr2331IlefsTer4)
c.4245_4255dup (p.Thr1419IlefsTer4)
c.3138_3148dup (p.Thr1050IlefsTer4)
n.1830+5666_1830+5676dup
c.7164_7174dup (p.Thr2392IlefsTer4)
c.2916_2926dup (p.Thr976IlefsTer4)
c.6144_6154dup (p.Thr2052IlefsTer4)
 dbSNP
8g.99776803A>CCA371875595VPS13Bc.7351A>C (p.Thr2451Pro)
n.7421A>C
c.*3033A>C (n.*3033A>C)
c.7276A>C (p.Thr2426Pro)
n.378-1879A>C
c.7348A>C (p.Thr2450Pro)
c.7273A>C (p.Thr2425Pro)
c.6973A>C (p.Thr2325Pro)
c.4237A>C (p.Thr1413Pro)
c.3130A>C (p.Thr1044Pro)
n.1830+5675T>G
c.7156A>C (p.Thr2386Pro)
c.2908A>C (p.Thr970Pro)
c.6136A>C (p.Thr2046Pro)
8g.99776803A>GCA371875596VPS13Bc.7351A>G (p.Thr2451Ala)
n.7421A>G
c.*3033A>G (n.*3033A>G)
c.7276A>G (p.Thr2426Ala)
n.378-1879A>G
c.7348A>G (p.Thr2450Ala)
c.7273A>G (p.Thr2425Ala)
c.6973A>G (p.Thr2325Ala)
c.4237A>G (p.Thr1413Ala)
c.3130A>G (p.Thr1044Ala)
n.1830+5675T>C
c.7156A>G (p.Thr2386Ala)
c.2908A>G (p.Thr970Ala)
c.6136A>G (p.Thr2046Ala)
 ClinVar dbSNP gnomAD v4
8g.99776803A>TCA371875597VPS13Bc.7351A>T (p.Thr2451Ser)
n.7421A>T
c.*3033A>T (n.*3033A>T)
c.7276A>T (p.Thr2426Ser)
n.378-1879A>T
c.7348A>T (p.Thr2450Ser)
c.7273A>T (p.Thr2425Ser)
c.6973A>T (p.Thr2325Ser)
c.4237A>T (p.Thr1413Ser)
c.3130A>T (p.Thr1044Ser)
n.1830+5675T>A
c.7156A>T (p.Thr2386Ser)
c.2908A>T (p.Thr970Ser)
c.6136A>T (p.Thr2046Ser)
8g.99776804C>ACA371875598VPS13Bc.7352C>A (p.Thr2451Asn)
n.7422C>A
c.*3034C>A (n.*3034C>A)
c.7277C>A (p.Thr2426Asn)
n.378-1878C>A
c.7349C>A (p.Thr2450Asn)
c.7274C>A (p.Thr2425Asn)
c.6974C>A (p.Thr2325Asn)
c.4238C>A (p.Thr1413Asn)
c.3131C>A (p.Thr1044Asn)
n.1830+5674G>T
c.7157C>A (p.Thr2386Asn)
c.2909C>A (p.Thr970Asn)
c.6137C>A (p.Thr2046Asn)
8g.99776804C>GCA371875599VPS13Bc.7352C>G (p.Thr2451Ser)
n.7422C>G
c.*3034C>G (n.*3034C>G)
c.7277C>G (p.Thr2426Ser)
n.378-1878C>G
c.7349C>G (p.Thr2450Ser)
c.7274C>G (p.Thr2425Ser)
c.6974C>G (p.Thr2325Ser)
c.4238C>G (p.Thr1413Ser)
c.3131C>G (p.Thr1044Ser)
n.1830+5674G>C
c.7157C>G (p.Thr2386Ser)
c.2909C>G (p.Thr970Ser)
c.6137C>G (p.Thr2046Ser)
 ClinVar dbSNP
8g.99776804C>TCA371875600VPS13Bc.7352C>T (p.Thr2451Ile)
n.7422C>T
c.*3034C>T (n.*3034C>T)
c.7277C>T (p.Thr2426Ile)
n.378-1878C>T
c.7349C>T (p.Thr2450Ile)
c.7274C>T (p.Thr2425Ile)
c.6974C>T (p.Thr2325Ile)
c.4238C>T (p.Thr1413Ile)
c.3131C>T (p.Thr1044Ile)
n.1830+5674G>A
c.7157C>T (p.Thr2386Ile)
c.2909C>T (p.Thr970Ile)
c.6137C>T (p.Thr2046Ile)
8g.99776805T>ACA462449147VPS13Bc.7353T>A (p.Thr2451=)
n.7423T>A
c.*3035T>A (n.*3035T>A)
c.7278T>A (p.Thr2426=)
n.378-1877T>A
c.7350T>A (p.Thr2450=)
c.7275T>A (p.Thr2425=)
c.6975T>A (p.Thr2325=)
c.4239T>A (p.Thr1413=)
c.3132T>A (p.Thr1044=)
n.1830+5673A>T
c.7158T>A (p.Thr2386=)
c.2910T>A (p.Thr970=)
c.6138T>A (p.Thr2046=)
8g.99776805T>CCA462449149VPS13Bc.7353T>C (p.Thr2451=)
n.7423T>C
c.*3035T>C (n.*3035T>C)
c.7278T>C (p.Thr2426=)
n.378-1877T>C
c.7350T>C (p.Thr2450=)
c.7275T>C (p.Thr2425=)
c.6975T>C (p.Thr2325=)
c.4239T>C (p.Thr1413=)
c.3132T>C (p.Thr1044=)
n.1830+5673A>G
c.7158T>C (p.Thr2386=)
c.2910T>C (p.Thr970=)
c.6138T>C (p.Thr2046=)
8g.99776805T>GCA462449148VPS13Bc.7353T>G (p.Thr2451=)
n.7423T>G
c.*3035T>G (n.*3035T>G)
c.7278T>G (p.Thr2426=)
n.378-1877T>G
c.7350T>G (p.Thr2450=)
c.7275T>G (p.Thr2425=)
c.6975T>G (p.Thr2325=)
c.4239T>G (p.Thr1413=)
c.3132T>G (p.Thr1044=)
n.1830+5673A>C
c.7158T>G (p.Thr2386=)
c.2910T>G (p.Thr970=)
c.6138T>G (p.Thr2046=)
8g.99776806T>ACA371875603VPS13Bc.7354T>A (p.Cys2452Ser)
n.7424T>A
c.*3036T>A (n.*3036T>A)
c.7279T>A (p.Cys2427Ser)
n.378-1876T>A
c.7351T>A (p.Cys2451Ser)
c.7276T>A (p.Cys2426Ser)
c.6976T>A (p.Cys2326Ser)
c.4240T>A (p.Cys1414Ser)
c.3133T>A (p.Cys1045Ser)
n.1830+5672A>T
c.7159T>A (p.Cys2387Ser)
c.2911T>A (p.Cys971Ser)
c.6139T>A (p.Cys2047Ser)
8g.99776806T>CCA371875601VPS13Bc.7354T>C (p.Cys2452Arg)
n.7424T>C
c.*3036T>C (n.*3036T>C)
c.7279T>C (p.Cys2427Arg)
n.378-1876T>C
c.7351T>C (p.Cys2451Arg)
c.7276T>C (p.Cys2426Arg)
c.6976T>C (p.Cys2326Arg)
c.4240T>C (p.Cys1414Arg)
c.3133T>C (p.Cys1045Arg)
n.1830+5672A>G
c.7159T>C (p.Cys2387Arg)
c.2911T>C (p.Cys971Arg)
c.6139T>C (p.Cys2047Arg)
8g.99776806T>GCA371875602VPS13Bc.7354T>G (p.Cys2452Gly)
n.7424T>G
c.*3036T>G (n.*3036T>G)
c.7279T>G (p.Cys2427Gly)
n.378-1876T>G
c.7351T>G (p.Cys2451Gly)
c.7276T>G (p.Cys2426Gly)
c.6976T>G (p.Cys2326Gly)
c.4240T>G (p.Cys1414Gly)
c.3133T>G (p.Cys1045Gly)
n.1830+5672A>C
c.7159T>G (p.Cys2387Gly)
c.2911T>G (p.Cys971Gly)
c.6139T>G (p.Cys2047Gly)
8g.99776807G>ACA371875604VPS13Bc.7355G>A (p.Cys2452Tyr)
n.7425G>A
c.*3037G>A (n.*3037G>A)
c.7280G>A (p.Cys2427Tyr)
n.378-1875G>A
c.7352G>A (p.Cys2451Tyr)
c.7277G>A (p.Cys2426Tyr)
c.6977G>A (p.Cys2326Tyr)
c.4241G>A (p.Cys1414Tyr)
c.3134G>A (p.Cys1045Tyr)
n.1830+5671C>T
c.7160G>A (p.Cys2387Tyr)
c.2912G>A (p.Cys971Tyr)
c.6140G>A (p.Cys2047Tyr)
8g.99776807G>CCA371875605VPS13Bc.7355G>C (p.Cys2452Ser)
n.7425G>C
c.*3037G>C (n.*3037G>C)
c.7280G>C (p.Cys2427Ser)
n.378-1875G>C
c.7352G>C (p.Cys2451Ser)
c.7277G>C (p.Cys2426Ser)
c.6977G>C (p.Cys2326Ser)
c.4241G>C (p.Cys1414Ser)
c.3134G>C (p.Cys1045Ser)
n.1830+5671C>G
c.7160G>C (p.Cys2387Ser)
c.2912G>C (p.Cys971Ser)
c.6140G>C (p.Cys2047Ser)
8g.99776807G>TCA371875606VPS13Bc.7355G>T (p.Cys2452Phe)
n.7425G>T
c.*3037G>T (n.*3037G>T)
c.7280G>T (p.Cys2427Phe)
n.378-1875G>T
c.7352G>T (p.Cys2451Phe)
c.7277G>T (p.Cys2426Phe)
c.6977G>T (p.Cys2326Phe)
c.4241G>T (p.Cys1414Phe)
c.3134G>T (p.Cys1045Phe)
n.1830+5671C>A
c.7160G>T (p.Cys2387Phe)
c.2912G>T (p.Cys971Phe)
c.6140G>T (p.Cys2047Phe)
8g.99776808T>ACA371875607VPS13Bc.7356T>A (p.Cys2452Ter)
n.7426T>A
c.*3038T>A (n.*3038T>A)
c.7281T>A (p.Cys2427Ter)
n.378-1874T>A
c.7353T>A (p.Cys2451Ter)
c.7278T>A (p.Cys2426Ter)
c.6978T>A (p.Cys2326Ter)
c.4242T>A (p.Cys1414Ter)
c.3135T>A (p.Cys1045Ter)
n.1830+5670A>T
c.7161T>A (p.Cys2387Ter)
c.2913T>A (p.Cys971Ter)
c.6141T>A (p.Cys2047Ter)
8g.99776808T>CCA462449150VPS13Bc.7356T>C (p.Cys2452=)
n.7426T>C
c.*3038T>C (n.*3038T>C)
c.7281T>C (p.Cys2427=)
n.378-1874T>C
c.7353T>C (p.Cys2451=)
c.7278T>C (p.Cys2426=)
c.6978T>C (p.Cys2326=)
c.4242T>C (p.Cys1414=)
c.3135T>C (p.Cys1045=)
n.1830+5670A>G
c.7161T>C (p.Cys2387=)
c.2913T>C (p.Cys971=)
c.6141T>C (p.Cys2047=)
8g.99776808T>GCA371875608VPS13Bc.7356T>G (p.Cys2452Trp)
n.7426T>G
c.*3038T>G (n.*3038T>G)
c.7281T>G (p.Cys2427Trp)
n.378-1874T>G
c.7353T>G (p.Cys2451Trp)
c.7278T>G (p.Cys2426Trp)
c.6978T>G (p.Cys2326Trp)
c.4242T>G (p.Cys1414Trp)
c.3135T>G (p.Cys1045Trp)
n.1830+5670A>C
c.7161T>G (p.Cys2387Trp)
c.2913T>G (p.Cys971Trp)
c.6141T>G (p.Cys2047Trp)
8g.99776809G>ACA371875609VPS13Bc.7357G>A (p.Asp2453Asn)
n.7427G>A
c.*3039G>A (n.*3039G>A)
c.7282G>A (p.Asp2428Asn)
n.378-1873G>A
c.7354G>A (p.Asp2452Asn)
c.7279G>A (p.Asp2427Asn)
c.6979G>A (p.Asp2327Asn)
c.4243G>A (p.Asp1415Asn)
c.3136G>A (p.Asp1046Asn)
n.1830+5669C>T
c.7162G>A (p.Asp2388Asn)
c.2914G>A (p.Asp972Asn)
c.6142G>A (p.Asp2048Asn)
8g.99776809G>CCA371875611VPS13Bc.7357G>C (p.Asp2453His)
n.7427G>C
c.*3039G>C (n.*3039G>C)
c.7282G>C (p.Asp2428His)
n.378-1873G>C
c.7354G>C (p.Asp2452His)
c.7279G>C (p.Asp2427His)
c.6979G>C (p.Asp2327His)
c.4243G>C (p.Asp1415His)
c.3136G>C (p.Asp1046His)
n.1830+5669C>G
c.7162G>C (p.Asp2388His)
c.2914G>C (p.Asp972His)
c.6142G>C (p.Asp2048His)
8g.99776809G>TCA371875610VPS13Bc.7357G>T (p.Asp2453Tyr)
n.7427G>T
c.*3039G>T (n.*3039G>T)
c.7282G>T (p.Asp2428Tyr)
n.378-1873G>T
c.7354G>T (p.Asp2452Tyr)
c.7279G>T (p.Asp2427Tyr)
c.6979G>T (p.Asp2327Tyr)
c.4243G>T (p.Asp1415Tyr)
c.3136G>T (p.Asp1046Tyr)
n.1830+5669C>A
c.7162G>T (p.Asp2388Tyr)
c.2914G>T (p.Asp972Tyr)
c.6142G>T (p.Asp2048Tyr)
8g.99776810delCA2688068075VPS13Bc.7358del (p.Asp2453ValfsTer4)
n.7428del
c.*3040del (n.*3040del)
c.7283del (p.Asp2428ValfsTer4)
n.378-1872del
c.7355del (p.Asp2452ValfsTer4)
c.7280del (p.Asp2427ValfsTer4)
c.6980del (p.Asp2327ValfsTer4)
c.4244del (p.Asp1415ValfsTer4)
c.3137del (p.Asp1046ValfsTer4)
n.1830+5668del
c.7163del (p.Asp2388ValfsTer4)
c.2915del (p.Asp972ValfsTer4)
c.6143del (p.Asp2048ValfsTer4)
 gnomAD v4
8g.99776810A>CCA371875612VPS13Bc.7358A>C (p.Asp2453Ala)
n.7428A>C
c.*3040A>C (n.*3040A>C)
c.7283A>C (p.Asp2428Ala)
n.378-1872A>C
c.7355A>C (p.Asp2452Ala)
c.7280A>C (p.Asp2427Ala)
c.6980A>C (p.Asp2327Ala)
c.4244A>C (p.Asp1415Ala)
c.3137A>C (p.Asp1046Ala)
n.1830+5668T>G
c.7163A>C (p.Asp2388Ala)
c.2915A>C (p.Asp972Ala)
c.6143A>C (p.Asp2048Ala)
8g.99776810A>GCA371875613VPS13Bc.7358A>G (p.Asp2453Gly)
n.7428A>G
c.*3040A>G (n.*3040A>G)
c.7283A>G (p.Asp2428Gly)
n.378-1872A>G
c.7355A>G (p.Asp2452Gly)
c.7280A>G (p.Asp2427Gly)
c.6980A>G (p.Asp2327Gly)
c.4244A>G (p.Asp1415Gly)
c.3137A>G (p.Asp1046Gly)
n.1830+5668T>C
c.7163A>G (p.Asp2388Gly)
c.2915A>G (p.Asp972Gly)
c.6143A>G (p.Asp2048Gly)
 gnomAD v4
8g.99776810A>TCA371875614VPS13Bc.7358A>T (p.Asp2453Val)
n.7428A>T
c.*3040A>T (n.*3040A>T)
c.7283A>T (p.Asp2428Val)
n.378-1872A>T
c.7355A>T (p.Asp2452Val)
c.7280A>T (p.Asp2427Val)
c.6980A>T (p.Asp2327Val)
c.4244A>T (p.Asp1415Val)
c.3137A>T (p.Asp1046Val)
n.1830+5668T>A
c.7163A>T (p.Asp2388Val)
c.2915A>T (p.Asp972Val)
c.6143A>T (p.Asp2048Val)
8g.99776811T>ACA371875615VPS13Bc.7359T>A (p.Asp2453Glu)
n.7429T>A
c.*3041T>A (n.*3041T>A)
c.7284T>A (p.Asp2428Glu)
n.378-1871T>A
c.7356T>A (p.Asp2452Glu)
c.7281T>A (p.Asp2427Glu)
c.6981T>A (p.Asp2327Glu)
c.4245T>A (p.Asp1415Glu)
c.3138T>A (p.Asp1046Glu)
n.1830+5667A>T
c.7164T>A (p.Asp2388Glu)
c.2916T>A (p.Asp972Glu)
c.6144T>A (p.Asp2048Glu)
8g.99776811T>CCA462449151VPS13Bc.7359T>C (p.Asp2453=)
n.7429T>C
c.*3041T>C (n.*3041T>C)
c.7284T>C (p.Asp2428=)
n.378-1871T>C
c.7356T>C (p.Asp2452=)
c.7281T>C (p.Asp2427=)
c.6981T>C (p.Asp2327=)
c.4245T>C (p.Asp1415=)
c.3138T>C (p.Asp1046=)
n.1830+5667A>G
c.7164T>C (p.Asp2388=)
c.2916T>C (p.Asp972=)
c.6144T>C (p.Asp2048=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.99776811T>GCA371875616VPS13Bc.7359T>G (p.Asp2453Glu)
n.7429T>G
c.*3041T>G (n.*3041T>G)
c.7284T>G (p.Asp2428Glu)
n.378-1871T>G
c.7356T>G (p.Asp2452Glu)
c.7281T>G (p.Asp2427Glu)
c.6981T>G (p.Asp2327Glu)
c.4245T>G (p.Asp1415Glu)
c.3138T>G (p.Asp1046Glu)
n.1830+5667A>C
c.7164T>G (p.Asp2388Glu)
c.2916T>G (p.Asp972Glu)
c.6144T>G (p.Asp2048Glu)
8g.99776812C>ACA371875617VPS13Bc.7360C>A (p.Pro2454Thr)
n.7430C>A
c.*3042C>A (n.*3042C>A)
c.7285C>A (p.Pro2429Thr)
n.378-1870C>A
c.7357C>A (p.Pro2453Thr)
c.7282C>A (p.Pro2428Thr)
c.6982C>A (p.Pro2328Thr)
c.4246C>A (p.Pro1416Thr)
c.3139C>A (p.Pro1047Thr)
n.1830+5666G>T
c.7165C>A (p.Pro2389Thr)
c.2917C>A (p.Pro973Thr)
c.6145C>A (p.Pro2049Thr)
8g.99776812C>GCA371875618VPS13Bc.7360C>G (p.Pro2454Ala)
n.7430C>G
c.*3042C>G (n.*3042C>G)
c.7285C>G (p.Pro2429Ala)
n.378-1870C>G
c.7357C>G (p.Pro2453Ala)
c.7282C>G (p.Pro2428Ala)
c.6982C>G (p.Pro2328Ala)
c.4246C>G (p.Pro1416Ala)
c.3139C>G (p.Pro1047Ala)
n.1830+5666G>C
c.7165C>G (p.Pro2389Ala)
c.2917C>G (p.Pro973Ala)
c.6145C>G (p.Pro2049Ala)
8g.99776812C>TCA371875619VPS13Bc.7360C>T (p.Pro2454Ser)
n.7430C>T
c.*3042C>T (n.*3042C>T)
c.7285C>T (p.Pro2429Ser)
n.378-1870C>T
c.7357C>T (p.Pro2453Ser)
c.7282C>T (p.Pro2428Ser)
c.6982C>T (p.Pro2328Ser)
c.4246C>T (p.Pro1416Ser)
c.3139C>T (p.Pro1047Ser)
n.1830+5666G>A
c.7165C>T (p.Pro2389Ser)
c.2917C>T (p.Pro973Ser)
c.6145C>T (p.Pro2049Ser)
8g.99776813C>ACA371875620VPS13Bc.7361C>A (p.Pro2454Gln)
n.7431C>A
c.*3043C>A (n.*3043C>A)
c.7286C>A (p.Pro2429Gln)
n.378-1869C>A
c.7358C>A (p.Pro2453Gln)
c.7283C>A (p.Pro2428Gln)
c.6983C>A (p.Pro2328Gln)
c.4247C>A (p.Pro1416Gln)
c.3140C>A (p.Pro1047Gln)
n.1830+5665G>T
c.7166C>A (p.Pro2389Gln)
c.2918C>A (p.Pro973Gln)
c.6146C>A (p.Pro2049Gln)
8g.99776813C>GCA371875621VPS13Bc.7361C>G (p.Pro2454Arg)
n.7431C>G
c.*3043C>G (n.*3043C>G)
c.7286C>G (p.Pro2429Arg)
n.378-1869C>G
c.7358C>G (p.Pro2453Arg)
c.7283C>G (p.Pro2428Arg)
c.6983C>G (p.Pro2328Arg)
c.4247C>G (p.Pro1416Arg)
c.3140C>G (p.Pro1047Arg)
n.1830+5665G>C
c.7166C>G (p.Pro2389Arg)
c.2918C>G (p.Pro973Arg)
c.6146C>G (p.Pro2049Arg)
8g.99776813C>TCA183041708VPS13Bc.7361C>T (p.Pro2454Leu)
n.7431C>T
c.*3043C>T (n.*3043C>T)
c.7286C>T (p.Pro2429Leu)
n.378-1869C>T
c.7358C>T (p.Pro2453Leu)
c.7283C>T (p.Pro2428Leu)
c.6983C>T (p.Pro2328Leu)
c.4247C>T (p.Pro1416Leu)
c.3140C>T (p.Pro1047Leu)
n.1830+5665G>A
c.7166C>T (p.Pro2389Leu)
c.2918C>T (p.Pro973Leu)
c.6146C>T (p.Pro2049Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99776814A>CCA462449153VPS13Bc.7362A>C (p.Pro2454=)
n.7432A>C
c.*3044A>C (n.*3044A>C)
c.7287A>C (p.Pro2429=)
n.378-1868A>C
c.7359A>C (p.Pro2453=)
c.7284A>C (p.Pro2428=)
c.6984A>C (p.Pro2328=)
c.4248A>C (p.Pro1416=)
c.3141A>C (p.Pro1047=)
n.1830+5664T>G
c.7167A>C (p.Pro2389=)
c.2919A>C (p.Pro973=)
c.6147A>C (p.Pro2049=)
8g.99776814A>GCA462449154VPS13Bc.7362A>G (p.Pro2454=)
n.7432A>G
c.*3044A>G (n.*3044A>G)
c.7287A>G (p.Pro2429=)
n.378-1868A>G
c.7359A>G (p.Pro2453=)
c.7284A>G (p.Pro2428=)
c.6984A>G (p.Pro2328=)
c.4248A>G (p.Pro1416=)
c.3141A>G (p.Pro1047=)
n.1830+5664T>C
c.7167A>G (p.Pro2389=)
c.2919A>G (p.Pro973=)
c.6147A>G (p.Pro2049=)
 gnomAD v4
8g.99776814A>TCA462449152VPS13Bc.7362A>T (p.Pro2454=)
n.7432A>T
c.*3044A>T (n.*3044A>T)
c.7287A>T (p.Pro2429=)
n.378-1868A>T
c.7359A>T (p.Pro2453=)
c.7284A>T (p.Pro2428=)
c.6984A>T (p.Pro2328=)
c.4248A>T (p.Pro1416=)
c.3141A>T (p.Pro1047=)
n.1830+5664T>A
c.7167A>T (p.Pro2389=)
c.2919A>T (p.Pro973=)
c.6147A>T (p.Pro2049=)
8g.99776815C>ACA371875624VPS13Bc.7363C>A (p.Leu2455Ile)
n.7433C>A
c.*3045C>A (n.*3045C>A)
c.7288C>A (p.Leu2430Ile)
n.378-1867C>A
c.7360C>A (p.Leu2454Ile)
c.7285C>A (p.Leu2429Ile)
c.6985C>A (p.Leu2329Ile)
c.4249C>A (p.Leu1417Ile)
c.3142C>A (p.Leu1048Ile)
n.1830+5663G>T
c.7168C>A (p.Leu2390Ile)
c.2920C>A (p.Leu974Ile)
c.6148C>A (p.Leu2050Ile)
8g.99776815C>GCA371875623VPS13Bc.7363C>G (p.Leu2455Val)
n.7433C>G
c.*3045C>G (n.*3045C>G)
c.7288C>G (p.Leu2430Val)
n.378-1867C>G
c.7360C>G (p.Leu2454Val)
c.7285C>G (p.Leu2429Val)
c.6985C>G (p.Leu2329Val)
c.4249C>G (p.Leu1417Val)
c.3142C>G (p.Leu1048Val)
n.1830+5663G>C
c.7168C>G (p.Leu2390Val)
c.2920C>G (p.Leu974Val)
c.6148C>G (p.Leu2050Val)
8g.99776815C>TCA371875622VPS13Bc.7363C>T (p.Leu2455Phe)
n.7433C>T
c.*3045C>T (n.*3045C>T)
c.7288C>T (p.Leu2430Phe)
n.378-1867C>T
c.7360C>T (p.Leu2454Phe)
c.7285C>T (p.Leu2429Phe)
c.6985C>T (p.Leu2329Phe)
c.4249C>T (p.Leu1417Phe)
c.3142C>T (p.Leu1048Phe)
n.1830+5663G>A
c.7168C>T (p.Leu2390Phe)
c.2920C>T (p.Leu974Phe)
c.6148C>T (p.Leu2050Phe)
8g.99776816T>ACA371875625VPS13Bc.7364T>A (p.Leu2455His)
n.7434T>A
c.*3046T>A (n.*3046T>A)
c.7289T>A (p.Leu2430His)
n.378-1866T>A
c.7361T>A (p.Leu2454His)
c.7286T>A (p.Leu2429His)
c.6986T>A (p.Leu2329His)
c.4250T>A (p.Leu1417His)
c.3143T>A (p.Leu1048His)
n.1830+5662A>T
c.7169T>A (p.Leu2390His)
c.2921T>A (p.Leu974His)
c.6149T>A (p.Leu2050His)
8g.99776816T>CCA371875627VPS13Bc.7364T>C (p.Leu2455Pro)
n.7434T>C
c.*3046T>C (n.*3046T>C)
c.7289T>C (p.Leu2430Pro)
n.378-1866T>C
c.7361T>C (p.Leu2454Pro)
c.7286T>C (p.Leu2429Pro)
c.6986T>C (p.Leu2329Pro)
c.4250T>C (p.Leu1417Pro)
c.3143T>C (p.Leu1048Pro)
n.1830+5662A>G
c.7169T>C (p.Leu2390Pro)
c.2921T>C (p.Leu974Pro)
c.6149T>C (p.Leu2050Pro)
 gnomAD v4
8g.99776816T>GCA371875626VPS13Bc.7364T>G (p.Leu2455Arg)
n.7434T>G
c.*3046T>G (n.*3046T>G)
c.7289T>G (p.Leu2430Arg)
n.378-1866T>G
c.7361T>G (p.Leu2454Arg)
c.7286T>G (p.Leu2429Arg)
c.6986T>G (p.Leu2329Arg)
c.4250T>G (p.Leu1417Arg)
c.3143T>G (p.Leu1048Arg)
n.1830+5662A>C
c.7169T>G (p.Leu2390Arg)
c.2921T>G (p.Leu974Arg)
c.6149T>G (p.Leu2050Arg)
8g.99776817T>ACA462449155VPS13Bc.7365T>A (p.Leu2455=)
n.7435T>A
c.*3047T>A (n.*3047T>A)
c.7290T>A (p.Leu2430=)
n.378-1865T>A
c.7362T>A (p.Leu2454=)
c.7287T>A (p.Leu2429=)
c.6987T>A (p.Leu2329=)
c.4251T>A (p.Leu1417=)
c.3144T>A (p.Leu1048=)
n.1830+5661A>T
c.7170T>A (p.Leu2390=)
c.2922T>A (p.Leu974=)
c.6150T>A (p.Leu2050=)
8g.99776817T>CCA462449156VPS13Bc.7365T>C (p.Leu2455=)
n.7435T>C
c.*3047T>C (n.*3047T>C)
c.7290T>C (p.Leu2430=)
n.378-1865T>C
c.7362T>C (p.Leu2454=)
c.7287T>C (p.Leu2429=)
c.6987T>C (p.Leu2329=)
c.4251T>C (p.Leu1417=)
c.3144T>C (p.Leu1048=)
n.1830+5661A>G
c.7170T>C (p.Leu2390=)
c.2922T>C (p.Leu974=)
c.6150T>C (p.Leu2050=)
8g.99776817T>GCA462449157VPS13Bc.7365T>G (p.Leu2455=)
n.7435T>G
c.*3047T>G (n.*3047T>G)
c.7290T>G (p.Leu2430=)
n.378-1865T>G
c.7362T>G (p.Leu2454=)
c.7287T>G (p.Leu2429=)
c.6987T>G (p.Leu2329=)
c.4251T>G (p.Leu1417=)
c.3144T>G (p.Leu1048=)
n.1830+5661A>C
c.7170T>G (p.Leu2390=)
c.2922T>G (p.Leu974=)
c.6150T>G (p.Leu2050=)
8g.99776818G>ACA4824188VPS13Bc.7366G>A (p.Val2456Met)
n.7436G>A
c.*3048G>A (n.*3048G>A)
c.7291G>A (p.Val2431Met)
n.378-1864G>A
c.7363G>A (p.Val2455Met)
c.7288G>A (p.Val2430Met)
c.6988G>A (p.Val2330Met)
c.4252G>A (p.Val1418Met)
c.3145G>A (p.Val1049Met)
n.1830+5660C>T
c.7171G>A (p.Val2391Met)
c.2923G>A (p.Val975Met)
c.6151G>A (p.Val2051Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99776818G>CCA371875629VPS13Bc.7366G>C (p.Val2456Leu)
n.7436G>C
c.*3048G>C (n.*3048G>C)
c.7291G>C (p.Val2431Leu)
n.378-1864G>C
c.7363G>C (p.Val2455Leu)
c.7288G>C (p.Val2430Leu)
c.6988G>C (p.Val2330Leu)
c.4252G>C (p.Val1418Leu)
c.3145G>C (p.Val1049Leu)
n.1830+5660C>G
c.7171G>C (p.Val2391Leu)
c.2923G>C (p.Val975Leu)
c.6151G>C (p.Val2051Leu)
8g.99776818G>TCA371875628VPS13Bc.7366G>T (p.Val2456Leu)
n.7436G>T
c.*3048G>T (n.*3048G>T)
c.7291G>T (p.Val2431Leu)
n.378-1864G>T
c.7363G>T (p.Val2455Leu)
c.7288G>T (p.Val2430Leu)
c.6988G>T (p.Val2330Leu)
c.4252G>T (p.Val1418Leu)
c.3145G>T (p.Val1049Leu)
n.1830+5660C>A
c.7171G>T (p.Val2391Leu)
c.2923G>T (p.Val975Leu)
c.6151G>T (p.Val2051Leu)
8g.99776819T>ACA371875630VPS13Bc.7367T>A (p.Val2456Glu)
n.7437T>A
c.*3049T>A (n.*3049T>A)
c.7292T>A (p.Val2431Glu)
n.378-1863T>A
c.7364T>A (p.Val2455Glu)
c.7289T>A (p.Val2430Glu)
c.6989T>A (p.Val2330Glu)
c.4253T>A (p.Val1418Glu)
c.3146T>A (p.Val1049Glu)
n.1830+5659A>T
c.7172T>A (p.Val2391Glu)
c.2924T>A (p.Val975Glu)
c.6152T>A (p.Val2051Glu)
8g.99776819T>CCA183041712VPS13Bc.7367T>C (p.Val2456Ala)
n.7437T>C
c.*3049T>C (n.*3049T>C)
c.7292T>C (p.Val2431Ala)
n.378-1863T>C
c.7364T>C (p.Val2455Ala)
c.7289T>C (p.Val2430Ala)
c.6989T>C (p.Val2330Ala)
c.4253T>C (p.Val1418Ala)
c.3146T>C (p.Val1049Ala)
n.1830+5659A>G
c.7172T>C (p.Val2391Ala)
c.2924T>C (p.Val975Ala)
c.6152T>C (p.Val2051Ala)
 dbSNP
8g.99776819T>GCA371875631VPS13Bc.7367T>G (p.Val2456Gly)
n.7437T>G
c.*3049T>G (n.*3049T>G)
c.7292T>G (p.Val2431Gly)
n.378-1863T>G
c.7364T>G (p.Val2455Gly)
c.7289T>G (p.Val2430Gly)
c.6989T>G (p.Val2330Gly)
c.4253T>G (p.Val1418Gly)
c.3146T>G (p.Val1049Gly)
n.1830+5659A>C
c.7172T>G (p.Val2391Gly)
c.2924T>G (p.Val975Gly)
c.6152T>G (p.Val2051Gly)
8g.99776820G>ACA462449158VPS13Bc.7368G>A (p.Val2456=)
n.7438G>A
c.*3050G>A (n.*3050G>A)
c.7293G>A (p.Val2431=)
n.378-1862G>A
c.7365G>A (p.Val2455=)
c.7290G>A (p.Val2430=)
c.6990G>A (p.Val2330=)
c.4254G>A (p.Val1418=)
c.3147G>A (p.Val1049=)
n.1830+5658C>T
c.7173G>A (p.Val2391=)
c.2925G>A (p.Val975=)
c.6153G>A (p.Val2051=)
 ClinVar
8g.99776820G>CCA462449159VPS13Bc.7368G>C (p.Val2456=)
n.7438G>C
c.*3050G>C (n.*3050G>C)
c.7293G>C (p.Val2431=)
n.378-1862G>C
c.7365G>C (p.Val2455=)
c.7290G>C (p.Val2430=)
c.6990G>C (p.Val2330=)
c.4254G>C (p.Val1418=)
c.3147G>C (p.Val1049=)
n.1830+5658C>G
c.7173G>C (p.Val2391=)
c.2925G>C (p.Val975=)
c.6153G>C (p.Val2051=)
8g.99776820G>TCA462449160VPS13Bc.7368G>T (p.Val2456=)
n.7438G>T
c.*3050G>T (n.*3050G>T)
c.7293G>T (p.Val2431=)
n.378-1862G>T
c.7365G>T (p.Val2455=)
c.7290G>T (p.Val2430=)
c.6990G>T (p.Val2330=)
c.4254G>T (p.Val1418=)
c.3147G>T (p.Val1049=)
n.1830+5658C>A
c.7173G>T (p.Val2391=)
c.2925G>T (p.Val975=)
c.6153G>T (p.Val2051=)
8g.99776821A>CCA371875632VPS13Bc.7369A>C (p.Thr2457Pro)
n.7439A>C
c.*3051A>C (n.*3051A>C)
c.7294A>C (p.Thr2432Pro)
n.378-1861A>C
c.7366A>C (p.Thr2456Pro)
c.7291A>C (p.Thr2431Pro)
c.6991A>C (p.Thr2331Pro)
c.4255A>C (p.Thr1419Pro)
c.3148A>C (p.Thr1050Pro)
n.1830+5657T>G
c.7174A>C (p.Thr2392Pro)
c.2926A>C (p.Thr976Pro)
c.6154A>C (p.Thr2052Pro)
8g.99776821A>GCA371875633VPS13Bc.7369A>G (p.Thr2457Ala)
n.7439A>G
c.*3051A>G (n.*3051A>G)
c.7294A>G (p.Thr2432Ala)
n.378-1861A>G
c.7366A>G (p.Thr2456Ala)
c.7291A>G (p.Thr2431Ala)
c.6991A>G (p.Thr2331Ala)
c.4255A>G (p.Thr1419Ala)
c.3148A>G (p.Thr1050Ala)
n.1830+5657T>C
c.7174A>G (p.Thr2392Ala)
c.2926A>G (p.Thr976Ala)
c.6154A>G (p.Thr2052Ala)
8g.99776821A>TCA371875634VPS13Bc.7369A>T (p.Thr2457Ser)
n.7439A>T
c.*3051A>T (n.*3051A>T)
c.7294A>T (p.Thr2432Ser)
n.378-1861A>T
c.7366A>T (p.Thr2456Ser)
c.7291A>T (p.Thr2431Ser)
c.6991A>T (p.Thr2331Ser)
c.4255A>T (p.Thr1419Ser)
c.3148A>T (p.Thr1050Ser)
n.1830+5657T>A
c.7174A>T (p.Thr2392Ser)
c.2926A>T (p.Thr976Ser)
c.6154A>T (p.Thr2052Ser)
8g.99776822C>ACA371875635VPS13Bc.7370C>A (p.Thr2457Asn)
n.7440C>A
c.*3052C>A (n.*3052C>A)
c.7295C>A (p.Thr2432Asn)
n.378-1860C>A
c.7367C>A (p.Thr2456Asn)
c.7292C>A (p.Thr2431Asn)
c.6992C>A (p.Thr2331Asn)
c.4256C>A (p.Thr1419Asn)
c.3149C>A (p.Thr1050Asn)
n.1830+5656G>T
c.7175C>A (p.Thr2392Asn)
c.2927C>A (p.Thr976Asn)
c.6155C>A (p.Thr2052Asn)
8g.99776822C>GCA371875636VPS13Bc.7370C>G (p.Thr2457Ser)
n.7440C>G
c.*3052C>G (n.*3052C>G)
c.7295C>G (p.Thr2432Ser)
n.378-1860C>G
c.7367C>G (p.Thr2456Ser)
c.7292C>G (p.Thr2431Ser)
c.6992C>G (p.Thr2331Ser)
c.4256C>G (p.Thr1419Ser)
c.3149C>G (p.Thr1050Ser)
n.1830+5656G>C
c.7175C>G (p.Thr2392Ser)
c.2927C>G (p.Thr976Ser)
c.6155C>G (p.Thr2052Ser)
8g.99776822C>TCA371875637VPS13Bc.7370C>T (p.Thr2457Ile)
n.7440C>T
c.*3052C>T (n.*3052C>T)
c.7295C>T (p.Thr2432Ile)
n.378-1860C>T
c.7367C>T (p.Thr2456Ile)
c.7292C>T (p.Thr2431Ile)
c.6992C>T (p.Thr2331Ile)
c.4256C>T (p.Thr1419Ile)
c.3149C>T (p.Thr1050Ile)
n.1830+5656G>A
c.7175C>T (p.Thr2392Ile)
c.2927C>T (p.Thr976Ile)
c.6155C>T (p.Thr2052Ile)
 ClinVar dbSNP
8g.99776823T>ACA462449161VPS13Bc.7371T>A (p.Thr2457=)
n.7441T>A
c.*3053T>A (n.*3053T>A)
c.7296T>A (p.Thr2432=)
n.378-1859T>A
c.7368T>A (p.Thr2456=)
c.7293T>A (p.Thr2431=)
c.6993T>A (p.Thr2331=)
c.4257T>A (p.Thr1419=)
c.3150T>A (p.Thr1050=)
n.1830+5655A>T
c.7176T>A (p.Thr2392=)
c.2928T>A (p.Thr976=)
c.6156T>A (p.Thr2052=)
8g.99776823T>CCA462449162VPS13Bc.7371T>C (p.Thr2457=)
n.7441T>C
c.*3053T>C (n.*3053T>C)
c.7296T>C (p.Thr2432=)
n.378-1859T>C
c.7368T>C (p.Thr2456=)
c.7293T>C (p.Thr2431=)
c.6993T>C (p.Thr2331=)
c.4257T>C (p.Thr1419=)
c.3150T>C (p.Thr1050=)
n.1830+5655A>G
c.7176T>C (p.Thr2392=)
c.2928T>C (p.Thr976=)
c.6156T>C (p.Thr2052=)
8g.99776823T>GCA462449163VPS13Bc.7371T>G (p.Thr2457=)
n.7441T>G
c.*3053T>G (n.*3053T>G)
c.7296T>G (p.Thr2432=)
n.378-1859T>G
c.7368T>G (p.Thr2456=)
c.7293T>G (p.Thr2431=)
c.6993T>G (p.Thr2331=)
c.4257T>G (p.Thr1419=)
c.3150T>G (p.Thr1050=)
n.1830+5655A>C
c.7176T>G (p.Thr2392=)
c.2928T>G (p.Thr976=)
c.6156T>G (p.Thr2052=)
8g.99776824C>ACA371875638VPS13Bc.7372C>A (p.Pro2458Thr)
n.7442C>A
c.*3054C>A (n.*3054C>A)
c.7297C>A (p.Pro2433Thr)
n.378-1858C>A
c.7369C>A (p.Pro2457Thr)
c.7294C>A (p.Pro2432Thr)
c.6994C>A (p.Pro2332Thr)
c.4258C>A (p.Pro1420Thr)
c.3151C>A (p.Pro1051Thr)
n.1830+5654G>T
c.7177C>A (p.Pro2393Thr)
c.2929C>A (p.Pro977Thr)
c.6157C>A (p.Pro2053Thr)
8g.99776824C>GCA371875639VPS13Bc.7372C>G (p.Pro2458Ala)
n.7442C>G
c.*3054C>G (n.*3054C>G)
c.7297C>G (p.Pro2433Ala)
n.378-1858C>G
c.7369C>G (p.Pro2457Ala)
c.7294C>G (p.Pro2432Ala)
c.6994C>G (p.Pro2332Ala)
c.4258C>G (p.Pro1420Ala)
c.3151C>G (p.Pro1051Ala)
n.1830+5654G>C
c.7177C>G (p.Pro2393Ala)
c.2929C>G (p.Pro977Ala)
c.6157C>G (p.Pro2053Ala)
8g.99776824C>TCA183041714VPS13Bc.7372C>T (p.Pro2458Ser)
n.7442C>T
c.*3054C>T (n.*3054C>T)
c.7297C>T (p.Pro2433Ser)
n.378-1858C>T
c.7369C>T (p.Pro2457Ser)
c.7294C>T (p.Pro2432Ser)
c.6994C>T (p.Pro2332Ser)
c.4258C>T (p.Pro1420Ser)
c.3151C>T (p.Pro1051Ser)
n.1830+5654G>A
c.7177C>T (p.Pro2393Ser)
c.2929C>T (p.Pro977Ser)
c.6157C>T (p.Pro2053Ser)
 dbSNP
8g.99776825dupCA2688068076VPS13Bc.7373dup (p.Thr2459AsnfsTer10)
n.7443dup
c.*3055dup (n.*3055dup)
c.7298dup (p.Thr2434AsnfsTer10)
n.378-1857dup
c.7370dup (p.Thr2458AsnfsTer10)
c.7295dup (p.Thr2433AsnfsTer10)
c.6995dup (p.Thr2333AsnfsTer10)
c.4259dup (p.Thr1421AsnfsTer10)
c.3152dup (p.Thr1052AsnfsTer10)
n.1830+5654dup
c.7178dup (p.Thr2394AsnfsTer10)
c.2930dup (p.Thr978AsnfsTer10)
c.6158dup (p.Thr2054AsnfsTer10)
 gnomAD v4
8g.99776825C>ACA371875640VPS13Bc.7373C>A (p.Pro2458Gln)
n.7443C>A
c.*3055C>A (n.*3055C>A)
c.7298C>A (p.Pro2433Gln)
n.378-1857C>A
c.7370C>A (p.Pro2457Gln)
c.7295C>A (p.Pro2432Gln)
c.6995C>A (p.Pro2332Gln)
c.4259C>A (p.Pro1420Gln)
c.3152C>A (p.Pro1051Gln)
n.1830+5653G>T
c.7178C>A (p.Pro2393Gln)
c.2930C>A (p.Pro977Gln)
c.6158C>A (p.Pro2053Gln)
8g.99776825C>GCA371875641VPS13Bc.7373C>G (p.Pro2458Arg)
n.7443C>G
c.*3055C>G (n.*3055C>G)
c.7298C>G (p.Pro2433Arg)
n.378-1857C>G
c.7370C>G (p.Pro2457Arg)
c.7295C>G (p.Pro2432Arg)
c.6995C>G (p.Pro2332Arg)
c.4259C>G (p.Pro1420Arg)
c.3152C>G (p.Pro1051Arg)
n.1830+5653G>C
c.7178C>G (p.Pro2393Arg)
c.2930C>G (p.Pro977Arg)
c.6158C>G (p.Pro2053Arg)
8g.99776825C>TCA371875642VPS13Bc.7373C>T (p.Pro2458Leu)
n.7443C>T
c.*3055C>T (n.*3055C>T)
c.7298C>T (p.Pro2433Leu)
n.378-1857C>T
c.7370C>T (p.Pro2457Leu)
c.7295C>T (p.Pro2432Leu)
c.6995C>T (p.Pro2332Leu)
c.4259C>T (p.Pro1420Leu)
c.3152C>T (p.Pro1051Leu)
n.1830+5653G>A
c.7178C>T (p.Pro2393Leu)
c.2930C>T (p.Pro977Leu)
c.6158C>T (p.Pro2053Leu)
8g.99776826A>CCA462449164VPS13Bc.7374A>C (p.Pro2458=)
n.7444A>C
c.*3056A>C (n.*3056A>C)
c.7299A>C (p.Pro2433=)
n.378-1856A>C
c.7371A>C (p.Pro2457=)
c.7296A>C (p.Pro2432=)
c.6996A>C (p.Pro2332=)
c.4260A>C (p.Pro1420=)
c.3153A>C (p.Pro1051=)
n.1830+5652T>G
c.7179A>C (p.Pro2393=)
c.2931A>C (p.Pro977=)
c.6159A>C (p.Pro2053=)
8g.99776826A>GCA462449165VPS13Bc.7374A>G (p.Pro2458=)
n.7444A>G
c.*3056A>G (n.*3056A>G)
c.7299A>G (p.Pro2433=)
n.378-1856A>G
c.7371A>G (p.Pro2457=)
c.7296A>G (p.Pro2432=)
c.6996A>G (p.Pro2332=)
c.4260A>G (p.Pro1420=)
c.3153A>G (p.Pro1051=)
n.1830+5652T>C
c.7179A>G (p.Pro2393=)
c.2931A>G (p.Pro977=)
c.6159A>G (p.Pro2053=)
 ClinVar dbSNP
8g.99776826A>TCA462449166VPS13Bc.7374A>T (p.Pro2458=)
n.7444A>T
c.*3056A>T (n.*3056A>T)
c.7299A>T (p.Pro2433=)
n.378-1856A>T
c.7371A>T (p.Pro2457=)
c.7296A>T (p.Pro2432=)
c.6996A>T (p.Pro2332=)
c.4260A>T (p.Pro1420=)
c.3153A>T (p.Pro1051=)
n.1830+5652T>A
c.7179A>T (p.Pro2393=)
c.2931A>T (p.Pro977=)
c.6159A>T (p.Pro2053=)
8g.99776827A>CCA371875643VPS13Bc.7375A>C (p.Thr2459Pro)
n.7445A>C
c.*3057A>C (n.*3057A>C)
c.7300A>C (p.Thr2434Pro)
n.378-1855A>C
c.7372A>C (p.Thr2458Pro)
c.7297A>C (p.Thr2433Pro)
c.6997A>C (p.Thr2333Pro)
c.4261A>C (p.Thr1421Pro)
c.3154A>C (p.Thr1052Pro)
n.1830+5651T>G
c.7180A>C (p.Thr2394Pro)
c.2932A>C (p.Thr978Pro)
c.6160A>C (p.Thr2054Pro)
8g.99776827A>GCA4824189VPS13Bc.7375A>G (p.Thr2459Ala)
n.7445A>G
c.*3057A>G (n.*3057A>G)
c.7300A>G (p.Thr2434Ala)
n.378-1855A>G
c.7372A>G (p.Thr2458Ala)
c.7297A>G (p.Thr2433Ala)
c.6997A>G (p.Thr2333Ala)
c.4261A>G (p.Thr1421Ala)
c.3154A>G (p.Thr1052Ala)
n.1830+5651T>C
c.7180A>G (p.Thr2394Ala)
c.2932A>G (p.Thr978Ala)
c.6160A>G (p.Thr2054Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
8g.99776827A>TCA371875644VPS13Bc.7375A>T (p.Thr2459Ser)
n.7445A>T
c.*3057A>T (n.*3057A>T)
c.7300A>T (p.Thr2434Ser)
n.378-1855A>T
c.7372A>T (p.Thr2458Ser)
c.7297A>T (p.Thr2433Ser)
c.6997A>T (p.Thr2333Ser)
c.4261A>T (p.Thr1421Ser)
c.3154A>T (p.Thr1052Ser)
n.1830+5651T>A
c.7180A>T (p.Thr2394Ser)
c.2932A>T (p.Thr978Ser)
c.6160A>T (p.Thr2054Ser)
8g.99776828C>ACA371875645VPS13Bc.7376C>A (p.Thr2459Lys)
n.7446C>A
c.*3058C>A (n.*3058C>A)
c.7301C>A (p.Thr2434Lys)
n.378-1854C>A
c.7373C>A (p.Thr2458Lys)
c.7298C>A (p.Thr2433Lys)
c.6998C>A (p.Thr2333Lys)
c.4262C>A (p.Thr1421Lys)
c.3155C>A (p.Thr1052Lys)
n.1830+5650G>T
c.7181C>A (p.Thr2394Lys)
c.2933C>A (p.Thr978Lys)
c.6161C>A (p.Thr2054Lys)
8g.99776828C>GCA371875646VPS13Bc.7376C>G (p.Thr2459Arg)
n.7446C>G
c.*3058C>G (n.*3058C>G)
c.7301C>G (p.Thr2434Arg)
n.378-1854C>G
c.7373C>G (p.Thr2458Arg)
c.7298C>G (p.Thr2433Arg)
c.6998C>G (p.Thr2333Arg)
c.4262C>G (p.Thr1421Arg)
c.3155C>G (p.Thr1052Arg)
n.1830+5650G>C
c.7181C>G (p.Thr2394Arg)
c.2933C>G (p.Thr978Arg)
c.6161C>G (p.Thr2054Arg)
 dbSNP gnomAD v4
8g.99776828C>TCA371875647VPS13Bc.7376C>T (p.Thr2459Ile)
n.7446C>T
c.*3058C>T (n.*3058C>T)
c.7301C>T (p.Thr2434Ile)
n.378-1854C>T
c.7373C>T (p.Thr2458Ile)
c.7298C>T (p.Thr2433Ile)
c.6998C>T (p.Thr2333Ile)
c.4262C>T (p.Thr1421Ile)
c.3155C>T (p.Thr1052Ile)
n.1830+5650G>A
c.7181C>T (p.Thr2394Ile)
c.2933C>T (p.Thr978Ile)
c.6161C>T (p.Thr2054Ile)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.99776829A>CCA462449167VPS13Bc.7377A>C (p.Thr2459=)
n.7447A>C
c.*3059A>C (n.*3059A>C)
c.7302A>C (p.Thr2434=)
n.378-1853A>C
c.7374A>C (p.Thr2458=)
c.7299A>C (p.Thr2433=)
c.6999A>C (p.Thr2333=)
c.4263A>C (p.Thr1421=)
c.3156A>C (p.Thr1052=)
n.1830+5649T>G
c.7182A>C (p.Thr2394=)
c.2934A>C (p.Thr978=)
c.6162A>C (p.Thr2054=)
8g.99776829A>GCA462449168VPS13Bc.7377A>G (p.Thr2459=)
n.7447A>G
c.*3059A>G (n.*3059A>G)
c.7302A>G (p.Thr2434=)
n.378-1853A>G
c.7374A>G (p.Thr2458=)
c.7299A>G (p.Thr2433=)
c.6999A>G (p.Thr2333=)
c.4263A>G (p.Thr1421=)
c.3156A>G (p.Thr1052=)
n.1830+5649T>C
c.7182A>G (p.Thr2394=)
c.2934A>G (p.Thr978=)
c.6162A>G (p.Thr2054=)
 ClinVar dbSNP
8g.99776829A>TCA462449169VPS13Bc.7377A>T (p.Thr2459=)
n.7447A>T
c.*3059A>T (n.*3059A>T)
c.7302A>T (p.Thr2434=)
n.378-1853A>T
c.7374A>T (p.Thr2458=)
c.7299A>T (p.Thr2433=)
c.6999A>T (p.Thr2333=)
c.4263A>T (p.Thr1421=)
c.3156A>T (p.Thr1052=)
n.1830+5649T>A
c.7182A>T (p.Thr2394=)
c.2934A>T (p.Thr978=)
c.6162A>T (p.Thr2054=)
8g.99776830G>ACA371875648VPS13Bc.7378G>A (p.Ala2460Thr)
n.7448G>A
c.*3060G>A (n.*3060G>A)
c.7303G>A (p.Ala2435Thr)
n.378-1852G>A
c.7375G>A (p.Ala2459Thr)
c.7300G>A (p.Ala2434Thr)
c.7000G>A (p.Ala2334Thr)
c.4264G>A (p.Ala1422Thr)
c.3157G>A (p.Ala1053Thr)
n.1830+5648C>T
c.7183G>A (p.Ala2395Thr)
c.2935G>A (p.Ala979Thr)
c.6163G>A (p.Ala2055Thr)
 gnomAD v4
8g.99776830G>CCA371875649VPS13Bc.7378G>C (p.Ala2460Pro)
n.7448G>C
c.*3060G>C (n.*3060G>C)
c.7303G>C (p.Ala2435Pro)
n.378-1852G>C
c.7375G>C (p.Ala2459Pro)
c.7300G>C (p.Ala2434Pro)
c.7000G>C (p.Ala2334Pro)
c.4264G>C (p.Ala1422Pro)
c.3157G>C (p.Ala1053Pro)
n.1830+5648C>G
c.7183G>C (p.Ala2395Pro)
c.2935G>C (p.Ala979Pro)
c.6163G>C (p.Ala2055Pro)
8g.99776830G>TCA371875650VPS13Bc.7378G>T (p.Ala2460Ser)
n.7448G>T
c.*3060G>T (n.*3060G>T)
c.7303G>T (p.Ala2435Ser)
n.378-1852G>T
c.7375G>T (p.Ala2459Ser)
c.7300G>T (p.Ala2434Ser)
c.7000G>T (p.Ala2334Ser)
c.4264G>T (p.Ala1422Ser)
c.3157G>T (p.Ala1053Ser)
n.1830+5648C>A
c.7183G>T (p.Ala2395Ser)
c.2935G>T (p.Ala979Ser)
c.6163G>T (p.Ala2055Ser)
8g.99776831C>ACA371875651VPS13Bc.7379C>A (p.Ala2460Asp)
n.7449C>A
c.*3061C>A (n.*3061C>A)
c.7304C>A (p.Ala2435Asp)
n.378-1851C>A
c.7376C>A (p.Ala2459Asp)
c.7301C>A (p.Ala2434Asp)
c.7001C>A (p.Ala2334Asp)
c.4265C>A (p.Ala1422Asp)
c.3158C>A (p.Ala1053Asp)
n.1830+5647G>T
c.7184C>A (p.Ala2395Asp)
c.2936C>A (p.Ala979Asp)
c.6164C>A (p.Ala2055Asp)
8g.99776831C>GCA371875652VPS13Bc.7379C>G (p.Ala2460Gly)
n.7449C>G
c.*3061C>G (n.*3061C>G)
c.7304C>G (p.Ala2435Gly)
n.378-1851C>G
c.7376C>G (p.Ala2459Gly)
c.7301C>G (p.Ala2434Gly)
c.7001C>G (p.Ala2334Gly)
c.4265C>G (p.Ala1422Gly)
c.3158C>G (p.Ala1053Gly)
n.1830+5647G>C
c.7184C>G (p.Ala2395Gly)
c.2936C>G (p.Ala979Gly)
c.6164C>G (p.Ala2055Gly)
8g.99776831C>TCA4824190VPS13Bc.7379C>T (p.Ala2460Val)
n.7449C>T
c.*3061C>T (n.*3061C>T)
c.7304C>T (p.Ala2435Val)
n.378-1851C>T
c.7376C>T (p.Ala2459Val)
c.7301C>T (p.Ala2434Val)
c.7001C>T (p.Ala2334Val)
c.4265C>T (p.Ala1422Val)
c.3158C>T (p.Ala1053Val)
n.1830+5647G>A
c.7184C>T (p.Ala2395Val)
c.2936C>T (p.Ala979Val)
c.6164C>T (p.Ala2055Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.99776832C>ACA183041719VPS13Bc.7380C>A (p.Ala2460=)
n.7450C>A
c.*3062C>A (n.*3062C>A)
c.7305C>A (p.Ala2435=)
n.378-1850C>A
c.7377C>A (p.Ala2459=)
c.7302C>A (p.Ala2434=)
c.7002C>A (p.Ala2334=)
c.4266C>A (p.Ala1422=)
c.3159C>A (p.Ala1053=)
n.1830+5646G>T
c.7185C>A (p.Ala2395=)
c.2937C>A (p.Ala979=)
c.6165C>A (p.Ala2055=)
 dbSNP
8g.99776832C>GCA462449170VPS13Bc.7380C>G (p.Ala2460=)
n.7450C>G
c.*3062C>G (n.*3062C>G)
c.7305C>G (p.Ala2435=)
n.378-1850C>G
c.7377C>G (p.Ala2459=)
c.7302C>G (p.Ala2434=)
c.7002C>G (p.Ala2334=)
c.4266C>G (p.Ala1422=)
c.3159C>G (p.Ala1053=)
n.1830+5646G>C
c.7185C>G (p.Ala2395=)
c.2937C>G (p.Ala979=)
c.6165C>G (p.Ala2055=)
8g.99776832C>TCA462449171VPS13Bc.7380C>T (p.Ala2460=)
n.7450C>T
c.*3062C>T (n.*3062C>T)
c.7305C>T (p.Ala2435=)
n.378-1850C>T
c.7377C>T (p.Ala2459=)
c.7302C>T (p.Ala2434=)
c.7002C>T (p.Ala2334=)
c.4266C>T (p.Ala1422=)
c.3159C>T (p.Ala1053=)
n.1830+5646G>A
c.7185C>T (p.Ala2395=)
c.2937C>T (p.Ala979=)
c.6165C>T (p.Ala2055=)
 ClinVar gnomAD v4
8g.99776833C>ACA371875654VPS13Bc.7381C>A (p.Leu2461Met)
n.7451C>A
c.*3063C>A (n.*3063C>A)
c.7306C>A (p.Leu2436Met)
n.378-1849C>A
c.7378C>A (p.Leu2460Met)
c.7303C>A (p.Leu2435Met)
c.7003C>A (p.Leu2335Met)
c.4267C>A (p.Leu1423Met)
c.3160C>A (p.Leu1054Met)
n.1830+5645G>T
c.7186C>A (p.Leu2396Met)
c.2938C>A (p.Leu980Met)
c.6166C>A (p.Leu2056Met)
8g.99776833C>GCA371875653VPS13Bc.7381C>G (p.Leu2461Val)
n.7451C>G
c.*3063C>G (n.*3063C>G)
c.7306C>G (p.Leu2436Val)
n.378-1849C>G
c.7378C>G (p.Leu2460Val)
c.7303C>G (p.Leu2435Val)
c.7003C>G (p.Leu2335Val)
c.4267C>G (p.Leu1423Val)
c.3160C>G (p.Leu1054Val)
n.1830+5645G>C
c.7186C>G (p.Leu2396Val)
c.2938C>G (p.Leu980Val)
c.6166C>G (p.Leu2056Val)
8g.99776833C>TCA4824191VPS13Bc.7381C>T (p.Leu2461=)
n.7451C>T
c.*3063C>T (n.*3063C>T)
c.7306C>T (p.Leu2436=)
n.378-1849C>T
c.7378C>T (p.Leu2460=)
c.7303C>T (p.Leu2435=)
c.7003C>T (p.Leu2335=)
c.4267C>T (p.Leu1423=)
c.3160C>T (p.Leu1054=)
n.1830+5645G>A
c.7186C>T (p.Leu2396=)
c.2938C>T (p.Leu980=)
c.6166C>T (p.Leu2056=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched