Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.99861757C>ACA2688071728VPS13Bc.*214-19C>A (n.*214-19C>A)
n.11190-19C>A
c.*6802-19C>A (n.*6802-19C>A)
c.11045-19C>A (n.11045-19C>A)
c.11120-19C>A (n.11120-19C>A)
c.11117-19C>A (n.11117-19C>A)
c.11042-19C>A (n.11042-19C>A)
c.10742-19C>A (n.10742-19C>A)
c.8006-19C>A (n.8006-19C>A)
c.6899-19C>A (n.6899-19C>A)
c.10925-19C>A (n.10925-19C>A)
c.6677-19C>A (n.6677-19C>A)
c.9905-19C>A (n.9905-19C>A)
 gnomAD v4
8g.99861757C>TCA2688071729VPS13Bc.*214-19C>T (n.*214-19C>T)
n.11190-19C>T
c.*6802-19C>T (n.*6802-19C>T)
c.11045-19C>T (n.11045-19C>T)
c.11120-19C>T (n.11120-19C>T)
c.11117-19C>T (n.11117-19C>T)
c.11042-19C>T (n.11042-19C>T)
c.10742-19C>T (n.10742-19C>T)
c.8006-19C>T (n.8006-19C>T)
c.6899-19C>T (n.6899-19C>T)
c.10925-19C>T (n.10925-19C>T)
c.6677-19C>T (n.6677-19C>T)
c.9905-19C>T (n.9905-19C>T)
 gnomAD v4
8g.99861760G>CCA2688071730VPS13Bc.*214-16G>C (n.*214-16G>C)
n.11190-16G>C
c.*6802-16G>C (n.*6802-16G>C)
c.11045-16G>C (n.11045-16G>C)
c.11120-16G>C (n.11120-16G>C)
c.11117-16G>C (n.11117-16G>C)
c.11042-16G>C (n.11042-16G>C)
c.10742-16G>C (n.10742-16G>C)
c.8006-16G>C (n.8006-16G>C)
c.6899-16G>C (n.6899-16G>C)
c.10925-16G>C (n.10925-16G>C)
c.6677-16G>C (n.6677-16G>C)
c.9905-16G>C (n.9905-16G>C)
 gnomAD v4
8g.99861760G>TCA2688071731VPS13Bc.*214-16G>T (n.*214-16G>T)
n.11190-16G>T
c.*6802-16G>T (n.*6802-16G>T)
c.11045-16G>T (n.11045-16G>T)
c.11120-16G>T (n.11120-16G>T)
c.11117-16G>T (n.11117-16G>T)
c.11042-16G>T (n.11042-16G>T)
c.10742-16G>T (n.10742-16G>T)
c.8006-16G>T (n.8006-16G>T)
c.6899-16G>T (n.6899-16G>T)
c.10925-16G>T (n.10925-16G>T)
c.6677-16G>T (n.6677-16G>T)
c.9905-16G>T (n.9905-16G>T)
 gnomAD v4
8g.99861761C>ACA2688071732VPS13Bc.*214-15C>A (n.*214-15C>A)
n.11190-15C>A
c.*6802-15C>A (n.*6802-15C>A)
c.11045-15C>A (n.11045-15C>A)
c.11120-15C>A (n.11120-15C>A)
c.11117-15C>A (n.11117-15C>A)
c.11042-15C>A (n.11042-15C>A)
c.10742-15C>A (n.10742-15C>A)
c.8006-15C>A (n.8006-15C>A)
c.6899-15C>A (n.6899-15C>A)
c.10925-15C>A (n.10925-15C>A)
c.6677-15C>A (n.6677-15C>A)
c.9905-15C>A (n.9905-15C>A)
 gnomAD v4
8g.99861761C>GCA2688071734VPS13Bc.*214-15C>G (n.*214-15C>G)
n.11190-15C>G
c.*6802-15C>G (n.*6802-15C>G)
c.11045-15C>G (n.11045-15C>G)
c.11120-15C>G (n.11120-15C>G)
c.11117-15C>G (n.11117-15C>G)
c.11042-15C>G (n.11042-15C>G)
c.10742-15C>G (n.10742-15C>G)
c.8006-15C>G (n.8006-15C>G)
c.6899-15C>G (n.6899-15C>G)
c.10925-15C>G (n.10925-15C>G)
c.6677-15C>G (n.6677-15C>G)
c.9905-15C>G (n.9905-15C>G)
 gnomAD v4
8g.99861761C>TCA2688071733VPS13Bc.*214-15C>T (n.*214-15C>T)
n.11190-15C>T
c.*6802-15C>T (n.*6802-15C>T)
c.11045-15C>T (n.11045-15C>T)
c.11120-15C>T (n.11120-15C>T)
c.11117-15C>T (n.11117-15C>T)
c.11042-15C>T (n.11042-15C>T)
c.10742-15C>T (n.10742-15C>T)
c.8006-15C>T (n.8006-15C>T)
c.6899-15C>T (n.6899-15C>T)
c.10925-15C>T (n.10925-15C>T)
c.6677-15C>T (n.6677-15C>T)
c.9905-15C>T (n.9905-15C>T)
 dbSNP gnomAD v4
8g.99861763C>ACA2688071736VPS13Bc.*214-13C>A (n.*214-13C>A)
n.11190-13C>A
c.*6802-13C>A (n.*6802-13C>A)
c.11045-13C>A (n.11045-13C>A)
c.11120-13C>A (n.11120-13C>A)
c.11117-13C>A (n.11117-13C>A)
c.11042-13C>A (n.11042-13C>A)
c.10742-13C>A (n.10742-13C>A)
c.8006-13C>A (n.8006-13C>A)
c.6899-13C>A (n.6899-13C>A)
c.10925-13C>A (n.10925-13C>A)
c.6677-13C>A (n.6677-13C>A)
c.9905-13C>A (n.9905-13C>A)
 gnomAD v4
8g.99861763C>GCA2717735969VPS13Bc.*214-13C>G (n.*214-13C>G)
n.11190-13C>G
c.*6802-13C>G (n.*6802-13C>G)
c.11045-13C>G (n.11045-13C>G)
c.11120-13C>G (n.11120-13C>G)
c.11117-13C>G (n.11117-13C>G)
c.11042-13C>G (n.11042-13C>G)
c.10742-13C>G (n.10742-13C>G)
c.8006-13C>G (n.8006-13C>G)
c.6899-13C>G (n.6899-13C>G)
c.10925-13C>G (n.10925-13C>G)
c.6677-13C>G (n.6677-13C>G)
c.9905-13C>G (n.9905-13C>G)
 dbSNP
8g.99861763C>TCA4825130VPS13Bc.*214-13C>T (n.*214-13C>T)
n.11190-13C>T
c.*6802-13C>T (n.*6802-13C>T)
c.11045-13C>T (n.11045-13C>T)
c.11120-13C>T (n.11120-13C>T)
c.11117-13C>T (n.11117-13C>T)
c.11042-13C>T (n.11042-13C>T)
c.10742-13C>T (n.10742-13C>T)
c.8006-13C>T (n.8006-13C>T)
c.6899-13C>T (n.6899-13C>T)
c.10925-13C>T (n.10925-13C>T)
c.6677-13C>T (n.6677-13C>T)
c.9905-13C>T (n.9905-13C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99861764T>ACA2688071737VPS13Bc.*214-12T>A (n.*214-12T>A)
n.11190-12T>A
c.*6802-12T>A (n.*6802-12T>A)
c.11045-12T>A (n.11045-12T>A)
c.11120-12T>A (n.11120-12T>A)
c.11117-12T>A (n.11117-12T>A)
c.11042-12T>A (n.11042-12T>A)
c.10742-12T>A (n.10742-12T>A)
c.8006-12T>A (n.8006-12T>A)
c.6899-12T>A (n.6899-12T>A)
c.10925-12T>A (n.10925-12T>A)
c.6677-12T>A (n.6677-12T>A)
c.9905-12T>A (n.9905-12T>A)
 gnomAD v4
8g.99861764T>CCA2579216422VPS13Bc.*214-12T>C (n.*214-12T>C)
n.11190-12T>C
c.*6802-12T>C (n.*6802-12T>C)
c.11045-12T>C (n.11045-12T>C)
c.11120-12T>C (n.11120-12T>C)
c.11117-12T>C (n.11117-12T>C)
c.11042-12T>C (n.11042-12T>C)
c.10742-12T>C (n.10742-12T>C)
c.8006-12T>C (n.8006-12T>C)
c.6899-12T>C (n.6899-12T>C)
c.10925-12T>C (n.10925-12T>C)
c.6677-12T>C (n.6677-12T>C)
c.9905-12T>C (n.9905-12T>C)
8g.99861765T>CCA583861166VPS13Bc.*214-11T>C (n.*214-11T>C)
n.11190-11T>C
c.*6802-11T>C (n.*6802-11T>C)
c.11045-11T>C (n.11045-11T>C)
c.11120-11T>C (n.11120-11T>C)
c.11117-11T>C (n.11117-11T>C)
c.11042-11T>C (n.11042-11T>C)
c.10742-11T>C (n.10742-11T>C)
c.8006-11T>C (n.8006-11T>C)
c.6899-11T>C (n.6899-11T>C)
c.10925-11T>C (n.10925-11T>C)
c.6677-11T>C (n.6677-11T>C)
c.9905-11T>C (n.9905-11T>C)
 dbSNP gnomAD v2 gnomAD v4
8g.99861766G>ACA2499219494VPS13Bc.*214-10G>A (n.*214-10G>A)
n.11190-10G>A
c.*6802-10G>A (n.*6802-10G>A)
c.11045-10G>A (n.11045-10G>A)
c.11120-10G>A (n.11120-10G>A)
c.11117-10G>A (n.11117-10G>A)
c.11042-10G>A (n.11042-10G>A)
c.10742-10G>A (n.10742-10G>A)
c.8006-10G>A (n.8006-10G>A)
c.6899-10G>A (n.6899-10G>A)
c.10925-10G>A (n.10925-10G>A)
c.6677-10G>A (n.6677-10G>A)
c.9905-10G>A (n.9905-10G>A)
 ClinVar dbSNP
8g.99861766G>CCA857604922VPS13Bc.*214-10G>C (n.*214-10G>C)
n.11190-10G>C
c.*6802-10G>C (n.*6802-10G>C)
c.11045-10G>C (n.11045-10G>C)
c.11120-10G>C (n.11120-10G>C)
c.11117-10G>C (n.11117-10G>C)
c.11042-10G>C (n.11042-10G>C)
c.10742-10G>C (n.10742-10G>C)
c.8006-10G>C (n.8006-10G>C)
c.6899-10G>C (n.6899-10G>C)
c.10925-10G>C (n.10925-10G>C)
c.6677-10G>C (n.6677-10G>C)
c.9905-10G>C (n.9905-10G>C)
 ClinVar dbSNP
8g.99861766G>TCA4825131VPS13Bc.*214-10G>T (n.*214-10G>T)
n.11190-10G>T
c.*6802-10G>T (n.*6802-10G>T)
c.11045-10G>T (n.11045-10G>T)
c.11120-10G>T (n.11120-10G>T)
c.11117-10G>T (n.11117-10G>T)
c.11042-10G>T (n.11042-10G>T)
c.10742-10G>T (n.10742-10G>T)
c.8006-10G>T (n.8006-10G>T)
c.6899-10G>T (n.6899-10G>T)
c.10925-10G>T (n.10925-10G>T)
c.6677-10G>T (n.6677-10G>T)
c.9905-10G>T (n.9905-10G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99861767T>CCA2688071742VPS13Bc.*214-9T>C (n.*214-9T>C)
n.11190-9T>C
c.*6802-9T>C (n.*6802-9T>C)
c.11045-9T>C (n.11045-9T>C)
c.11120-9T>C (n.11120-9T>C)
c.11117-9T>C (n.11117-9T>C)
c.11042-9T>C (n.11042-9T>C)
c.10742-9T>C (n.10742-9T>C)
c.8006-9T>C (n.8006-9T>C)
c.6899-9T>C (n.6899-9T>C)
c.10925-9T>C (n.10925-9T>C)
c.6677-9T>C (n.6677-9T>C)
c.9905-9T>C (n.9905-9T>C)
 gnomAD v4
8g.99861768T>ACA2688071743VPS13Bc.*214-8T>A (n.*214-8T>A)
n.11190-8T>A
c.*6802-8T>A (n.*6802-8T>A)
c.11045-8T>A (n.11045-8T>A)
c.11120-8T>A (n.11120-8T>A)
c.11117-8T>A (n.11117-8T>A)
c.11042-8T>A (n.11042-8T>A)
c.10742-8T>A (n.10742-8T>A)
c.8006-8T>A (n.8006-8T>A)
c.6899-8T>A (n.6899-8T>A)
c.10925-8T>A (n.10925-8T>A)
c.6677-8T>A (n.6677-8T>A)
c.9905-8T>A (n.9905-8T>A)
 gnomAD v4
8g.99861768T>CCA583861167VPS13Bc.*214-8T>C (n.*214-8T>C)
n.11190-8T>C
c.*6802-8T>C (n.*6802-8T>C)
c.11045-8T>C (n.11045-8T>C)
c.11120-8T>C (n.11120-8T>C)
c.11117-8T>C (n.11117-8T>C)
c.11042-8T>C (n.11042-8T>C)
c.10742-8T>C (n.10742-8T>C)
c.8006-8T>C (n.8006-8T>C)
c.6899-8T>C (n.6899-8T>C)
c.10925-8T>C (n.10925-8T>C)
c.6677-8T>C (n.6677-8T>C)
c.9905-8T>C (n.9905-8T>C)
 dbSNP gnomAD v2 gnomAD v4
8g.99861769C>ACA2688071745VPS13Bc.*214-7C>A (n.*214-7C>A)
n.11190-7C>A
c.*6802-7C>A (n.*6802-7C>A)
c.11045-7C>A (n.11045-7C>A)
c.11120-7C>A (n.11120-7C>A)
c.11117-7C>A (n.11117-7C>A)
c.11042-7C>A (n.11042-7C>A)
c.10742-7C>A (n.10742-7C>A)
c.8006-7C>A (n.8006-7C>A)
c.6899-7C>A (n.6899-7C>A)
c.10925-7C>A (n.10925-7C>A)
c.6677-7C>A (n.6677-7C>A)
c.9905-7C>A (n.9905-7C>A)
 gnomAD v4
8g.99861769C>TCA2688071746VPS13Bc.*214-7C>T (n.*214-7C>T)
n.11190-7C>T
c.*6802-7C>T (n.*6802-7C>T)
c.11045-7C>T (n.11045-7C>T)
c.11120-7C>T (n.11120-7C>T)
c.11117-7C>T (n.11117-7C>T)
c.11042-7C>T (n.11042-7C>T)
c.10742-7C>T (n.10742-7C>T)
c.8006-7C>T (n.8006-7C>T)
c.6899-7C>T (n.6899-7C>T)
c.10925-7C>T (n.10925-7C>T)
c.6677-7C>T (n.6677-7C>T)
c.9905-7C>T (n.9905-7C>T)
 gnomAD v4
8g.99861770C>ACA2688071749VPS13Bc.*214-6C>A (n.*214-6C>A)
n.11190-6C>A
c.*6802-6C>A (n.*6802-6C>A)
c.11045-6C>A (n.11045-6C>A)
c.11120-6C>A (n.11120-6C>A)
c.11117-6C>A (n.11117-6C>A)
c.11042-6C>A (n.11042-6C>A)
c.10742-6C>A (n.10742-6C>A)
c.8006-6C>A (n.8006-6C>A)
c.6899-6C>A (n.6899-6C>A)
c.10925-6C>A (n.10925-6C>A)
c.6677-6C>A (n.6677-6C>A)
c.9905-6C>A (n.9905-6C>A)
 gnomAD v4
8g.99861770C>TCA583861168VPS13Bc.*214-6C>T (n.*214-6C>T)
n.11190-6C>T
c.*6802-6C>T (n.*6802-6C>T)
c.11045-6C>T (n.11045-6C>T)
c.11120-6C>T (n.11120-6C>T)
c.11117-6C>T (n.11117-6C>T)
c.11042-6C>T (n.11042-6C>T)
c.10742-6C>T (n.10742-6C>T)
c.8006-6C>T (n.8006-6C>T)
c.6899-6C>T (n.6899-6C>T)
c.10925-6C>T (n.10925-6C>T)
c.6677-6C>T (n.6677-6C>T)
c.9905-6C>T (n.9905-6C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.99861771C>ACA2688071751VPS13Bc.*214-5C>A (n.*214-5C>A)
n.11190-5C>A
c.*6802-5C>A (n.*6802-5C>A)
c.11045-5C>A (n.11045-5C>A)
c.11120-5C>A (n.11120-5C>A)
c.11117-5C>A (n.11117-5C>A)
c.11042-5C>A (n.11042-5C>A)
c.10742-5C>A (n.10742-5C>A)
c.8006-5C>A (n.8006-5C>A)
c.6899-5C>A (n.6899-5C>A)
c.10925-5C>A (n.10925-5C>A)
c.6677-5C>A (n.6677-5C>A)
c.9905-5C>A (n.9905-5C>A)
 gnomAD v4
8g.99861771C>TCA2688071750VPS13Bc.*214-5C>T (n.*214-5C>T)
n.11190-5C>T
c.*6802-5C>T (n.*6802-5C>T)
c.11045-5C>T (n.11045-5C>T)
c.11120-5C>T (n.11120-5C>T)
c.11117-5C>T (n.11117-5C>T)
c.11042-5C>T (n.11042-5C>T)
c.10742-5C>T (n.10742-5C>T)
c.8006-5C>T (n.8006-5C>T)
c.6899-5C>T (n.6899-5C>T)
c.10925-5C>T (n.10925-5C>T)
c.6677-5C>T (n.6677-5C>T)
c.9905-5C>T (n.9905-5C>T)
 gnomAD v4
8g.99861772T>ACA2688071752VPS13Bc.*214-4T>A (n.*214-4T>A)
n.11190-4T>A
c.*6802-4T>A (n.*6802-4T>A)
c.11045-4T>A (n.11045-4T>A)
c.11120-4T>A (n.11120-4T>A)
c.11117-4T>A (n.11117-4T>A)
c.11042-4T>A (n.11042-4T>A)
c.10742-4T>A (n.10742-4T>A)
c.8006-4T>A (n.8006-4T>A)
c.6899-4T>A (n.6899-4T>A)
c.10925-4T>A (n.10925-4T>A)
c.6677-4T>A (n.6677-4T>A)
c.9905-4T>A (n.9905-4T>A)
 gnomAD v4
8g.99861772T>CCA915948840VPS13Bc.*214-4T>C (n.*214-4T>C)
n.11190-4T>C
c.*6802-4T>C (n.*6802-4T>C)
c.11045-4T>C (n.11045-4T>C)
c.11120-4T>C (n.11120-4T>C)
c.11117-4T>C (n.11117-4T>C)
c.11042-4T>C (n.11042-4T>C)
c.10742-4T>C (n.10742-4T>C)
c.8006-4T>C (n.8006-4T>C)
c.6899-4T>C (n.6899-4T>C)
c.10925-4T>C (n.10925-4T>C)
c.6677-4T>C (n.6677-4T>C)
c.9905-4T>C (n.9905-4T>C)
 ClinVar dbSNP gnomAD v4
8g.99861773C>ACA2688071754VPS13Bc.*214-3C>A (n.*214-3C>A)
n.11190-3C>A
c.*6802-3C>A (n.*6802-3C>A)
c.11045-3C>A (n.11045-3C>A)
c.11120-3C>A (n.11120-3C>A)
c.11117-3C>A (n.11117-3C>A)
c.11042-3C>A (n.11042-3C>A)
c.10742-3C>A (n.10742-3C>A)
c.8006-3C>A (n.8006-3C>A)
c.6899-3C>A (n.6899-3C>A)
c.10925-3C>A (n.10925-3C>A)
c.6677-3C>A (n.6677-3C>A)
c.9905-3C>A (n.9905-3C>A)
 gnomAD v4
8g.99861773C>TCA2688071755VPS13Bc.*214-3C>T (n.*214-3C>T)
n.11190-3C>T
c.*6802-3C>T (n.*6802-3C>T)
c.11045-3C>T (n.11045-3C>T)
c.11120-3C>T (n.11120-3C>T)
c.11117-3C>T (n.11117-3C>T)
c.11042-3C>T (n.11042-3C>T)
c.10742-3C>T (n.10742-3C>T)
c.8006-3C>T (n.8006-3C>T)
c.6899-3C>T (n.6899-3C>T)
c.10925-3C>T (n.10925-3C>T)
c.6677-3C>T (n.6677-3C>T)
c.9905-3C>T (n.9905-3C>T)
 gnomAD v4
8g.99861774A>CCA371790163VPS13Bc.*214-2A>C (n.*214-2A>C)
n.11190-2A>C
c.*6802-2A>C (n.*6802-2A>C)
c.11045-2A>C (n.11045-2A>C)
c.11120-2A>C (n.11120-2A>C)
c.11117-2A>C (n.11117-2A>C)
c.11042-2A>C (n.11042-2A>C)
c.10742-2A>C (n.10742-2A>C)
c.8006-2A>C (n.8006-2A>C)
c.6899-2A>C (n.6899-2A>C)
c.10925-2A>C (n.10925-2A>C)
c.6677-2A>C (n.6677-2A>C)
c.9905-2A>C (n.9905-2A>C)
8g.99861774A>GCA371790165VPS13Bc.*214-2A>G (n.*214-2A>G)
n.11190-2A>G
c.*6802-2A>G (n.*6802-2A>G)
c.11045-2A>G (n.11045-2A>G)
c.11120-2A>G (n.11120-2A>G)
c.11117-2A>G (n.11117-2A>G)
c.11042-2A>G (n.11042-2A>G)
c.10742-2A>G (n.10742-2A>G)
c.8006-2A>G (n.8006-2A>G)
c.6899-2A>G (n.6899-2A>G)
c.10925-2A>G (n.10925-2A>G)
c.6677-2A>G (n.6677-2A>G)
c.9905-2A>G (n.9905-2A>G)
 dbSNP gnomAD v4
8g.99861774A>TCA371790168VPS13Bc.*214-2A>T (n.*214-2A>T)
n.11190-2A>T
c.*6802-2A>T (n.*6802-2A>T)
c.11045-2A>T (n.11045-2A>T)
c.11120-2A>T (n.11120-2A>T)
c.11117-2A>T (n.11117-2A>T)
c.11042-2A>T (n.11042-2A>T)
c.10742-2A>T (n.10742-2A>T)
c.8006-2A>T (n.8006-2A>T)
c.6899-2A>T (n.6899-2A>T)
c.10925-2A>T (n.10925-2A>T)
c.6677-2A>T (n.6677-2A>T)
c.9905-2A>T (n.9905-2A>T)
8g.99861775G>ACA371790171VPS13Bc.*214-1G>A (n.*214-1G>A)
n.11190-1G>A
c.*6802-1G>A (n.*6802-1G>A)
c.11045-1G>A (n.11045-1G>A)
c.11120-1G>A (n.11120-1G>A)
c.11117-1G>A (n.11117-1G>A)
c.11042-1G>A (n.11042-1G>A)
c.10742-1G>A (n.10742-1G>A)
c.8006-1G>A (n.8006-1G>A)
c.6899-1G>A (n.6899-1G>A)
c.10925-1G>A (n.10925-1G>A)
c.6677-1G>A (n.6677-1G>A)
c.9905-1G>A (n.9905-1G>A)
8g.99861775G>CCA371790173VPS13Bc.*214-1G>C (n.*214-1G>C)
n.11190-1G>C
c.*6802-1G>C (n.*6802-1G>C)
c.11045-1G>C (n.11045-1G>C)
c.11120-1G>C (n.11120-1G>C)
c.11117-1G>C (n.11117-1G>C)
c.11042-1G>C (n.11042-1G>C)
c.10742-1G>C (n.10742-1G>C)
c.8006-1G>C (n.8006-1G>C)
c.6899-1G>C (n.6899-1G>C)
c.10925-1G>C (n.10925-1G>C)
c.6677-1G>C (n.6677-1G>C)
c.9905-1G>C (n.9905-1G>C)
8g.99861775G>TCA371790175VPS13Bc.*214-1G>T (n.*214-1G>T)
n.11190-1G>T
c.*6802-1G>T (n.*6802-1G>T)
c.11045-1G>T (n.11045-1G>T)
c.11120-1G>T (n.11120-1G>T)
c.11117-1G>T (n.11117-1G>T)
c.11042-1G>T (n.11042-1G>T)
c.10742-1G>T (n.10742-1G>T)
c.8006-1G>T (n.8006-1G>T)
c.6899-1G>T (n.6899-1G>T)
c.10925-1G>T (n.10925-1G>T)
c.6677-1G>T (n.6677-1G>T)
c.9905-1G>T (n.9905-1G>T)
 gnomAD v4
8g.99861776G>ACA371790177VPS13Bc.*214G>A (n.*214G>A)
n.11190G>A
c.*6802G>A (n.*6802G>A)
c.11045G>A (p.Gly3682Asp)
c.11120G>A (p.Gly3707Asp)
c.11117G>A (p.Gly3706Asp)
c.11042G>A (p.Gly3681Asp)
c.10742G>A (p.Gly3581Asp)
c.8006G>A (p.Gly2669Asp)
c.6899G>A (p.Gly2300Asp)
c.10925G>A (p.Gly3642Asp)
c.6677G>A (p.Gly2226Asp)
c.9905G>A (p.Gly3302Asp)
 gnomAD v4
8g.99861776G>CCA371790178VPS13Bc.*214G>C (n.*214G>C)
n.11190G>C
c.*6802G>C (n.*6802G>C)
c.11045G>C (p.Gly3682Ala)
c.11120G>C (p.Gly3707Ala)
c.11117G>C (p.Gly3706Ala)
c.11042G>C (p.Gly3681Ala)
c.10742G>C (p.Gly3581Ala)
c.8006G>C (p.Gly2669Ala)
c.6899G>C (p.Gly2300Ala)
c.10925G>C (p.Gly3642Ala)
c.6677G>C (p.Gly2226Ala)
c.9905G>C (p.Gly3302Ala)
8g.99861776G>TCA182321266VPS13Bc.*214G>T (n.*214G>T)
n.11190G>T
c.*6802G>T (n.*6802G>T)
c.11045G>T (p.Gly3682Val)
c.11120G>T (p.Gly3707Val)
c.11117G>T (p.Gly3706Val)
c.11042G>T (p.Gly3681Val)
c.10742G>T (p.Gly3581Val)
c.8006G>T (p.Gly2669Val)
c.6899G>T (p.Gly2300Val)
c.10925G>T (p.Gly3642Val)
c.6677G>T (p.Gly2226Val)
c.9905G>T (p.Gly3302Val)
 dbSNP gnomAD v4
8g.99861776_99861777delCA4825132VPS13Bc.*214_*215del (n.*214_*215del)
n.11190_11191del
c.*6802_*6803del (n.*6802_*6803del)
c.11045_11046del (p.Gly3682AspfsTer23)
c.11120_11121del (p.Gly3707AspfsTer23)
c.11117_11118del (p.Gly3706AspfsTer23)
c.11042_11043del (p.Gly3681AspfsTer23)
c.10742_10743del (p.Gly3581AspfsTer23)
c.8006_8007del (p.Gly2669AspfsTer23)
c.6899_6900del (p.Gly2300AspfsTer23)
c.10925_10926del (p.Gly3642AspfsTer23)
c.6677_6678del (p.Gly2226AspfsTer23)
c.9905_9906del (p.Gly3302AspfsTer23)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99861777T>ACA462338018VPS13Bc.*215T>A (n.*215T>A)
n.11191T>A
c.*6803T>A (n.*6803T>A)
c.11046T>A (p.Gly3682=)
c.11121T>A (p.Gly3707=)
c.11118T>A (p.Gly3706=)
c.11043T>A (p.Gly3681=)
c.10743T>A (p.Gly3581=)
c.8007T>A (p.Gly2669=)
c.6900T>A (p.Gly2300=)
c.10926T>A (p.Gly3642=)
c.6678T>A (p.Gly2226=)
c.9906T>A (p.Gly3302=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99861777T>CCA462338019VPS13Bc.*215T>C (n.*215T>C)
n.11191T>C
c.*6803T>C (n.*6803T>C)
c.11046T>C (p.Gly3682=)
c.11121T>C (p.Gly3707=)
c.11118T>C (p.Gly3706=)
c.11043T>C (p.Gly3681=)
c.10743T>C (p.Gly3581=)
c.8007T>C (p.Gly2669=)
c.6900T>C (p.Gly2300=)
c.10926T>C (p.Gly3642=)
c.6678T>C (p.Gly2226=)
c.9906T>C (p.Gly3302=)
 gnomAD v4
8g.99861777T>GCA462338020VPS13Bc.*215T>G (n.*215T>G)
n.11191T>G
c.*6803T>G (n.*6803T>G)
c.11046T>G (p.Gly3682=)
c.11121T>G (p.Gly3707=)
c.11118T>G (p.Gly3706=)
c.11043T>G (p.Gly3681=)
c.10743T>G (p.Gly3581=)
c.8007T>G (p.Gly2669=)
c.6900T>G (p.Gly2300=)
c.10926T>G (p.Gly3642=)
c.6678T>G (p.Gly2226=)
c.9906T>G (p.Gly3302=)
8g.99861778delCA2573143502VPS13Bc.*216del (n.*216del)
n.11192del
c.*6804del (n.*6804del)
c.11047del (p.Thr3683ProfsTer?)
c.11122del (p.Thr3708ProfsTer?)
c.11119del (p.Thr3707ProfsTer?)
c.11044del (p.Thr3682ProfsTer?)
c.10744del (p.Thr3582ProfsTer?)
c.8008del (p.Thr2670ProfsTer?)
c.6901del (p.Thr2301ProfsTer?)
c.10927del (p.Thr3643ProfsTer?)
c.6679del (p.Thr2227ProfsTer?)
c.9907del (p.Thr3303ProfsTer?)
 ClinVar dbSNP
8g.99861778A>CCA371790181VPS13Bc.*216A>C (n.*216A>C)
n.11192A>C
c.*6804A>C (n.*6804A>C)
c.11047A>C (p.Thr3683Pro)
c.11122A>C (p.Thr3708Pro)
c.11119A>C (p.Thr3707Pro)
c.11044A>C (p.Thr3682Pro)
c.10744A>C (p.Thr3582Pro)
c.8008A>C (p.Thr2670Pro)
c.6901A>C (p.Thr2301Pro)
c.10927A>C (p.Thr3643Pro)
c.6679A>C (p.Thr2227Pro)
c.9907A>C (p.Thr3303Pro)
 dbSNP
8g.99861778A>GCA371790183VPS13Bc.*216A>G (n.*216A>G)
n.11192A>G
c.*6804A>G (n.*6804A>G)
c.11047A>G (p.Thr3683Ala)
c.11122A>G (p.Thr3708Ala)
c.11119A>G (p.Thr3707Ala)
c.11044A>G (p.Thr3682Ala)
c.10744A>G (p.Thr3582Ala)
c.8008A>G (p.Thr2670Ala)
c.6901A>G (p.Thr2301Ala)
c.10927A>G (p.Thr3643Ala)
c.6679A>G (p.Thr2227Ala)
c.9907A>G (p.Thr3303Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99861778A>TCA371790185VPS13Bc.*216A>T (n.*216A>T)
n.11192A>T
c.*6804A>T (n.*6804A>T)
c.11047A>T (p.Thr3683Ser)
c.11122A>T (p.Thr3708Ser)
c.11119A>T (p.Thr3707Ser)
c.11044A>T (p.Thr3682Ser)
c.10744A>T (p.Thr3582Ser)
c.8008A>T (p.Thr2670Ser)
c.6901A>T (p.Thr2301Ser)
c.10927A>T (p.Thr3643Ser)
c.6679A>T (p.Thr2227Ser)
c.9907A>T (p.Thr3303Ser)
8g.99861779C>ACA371790188VPS13Bc.*217C>A (n.*217C>A)
n.11193C>A
c.*6805C>A (n.*6805C>A)
c.11048C>A (p.Thr3683Asn)
c.11123C>A (p.Thr3708Asn)
c.11120C>A (p.Thr3707Asn)
c.11045C>A (p.Thr3682Asn)
c.10745C>A (p.Thr3582Asn)
c.8009C>A (p.Thr2670Asn)
c.6902C>A (p.Thr2301Asn)
c.10928C>A (p.Thr3643Asn)
c.6680C>A (p.Thr2227Asn)
c.9908C>A (p.Thr3303Asn)
 dbSNP gnomAD v4
8g.99861779C>GCA371790192VPS13Bc.*217C>G (n.*217C>G)
n.11193C>G
c.*6805C>G (n.*6805C>G)
c.11048C>G (p.Thr3683Ser)
c.11123C>G (p.Thr3708Ser)
c.11120C>G (p.Thr3707Ser)
c.11045C>G (p.Thr3682Ser)
c.10745C>G (p.Thr3582Ser)
c.8009C>G (p.Thr2670Ser)
c.6902C>G (p.Thr2301Ser)
c.10928C>G (p.Thr3643Ser)
c.6680C>G (p.Thr2227Ser)
c.9908C>G (p.Thr3303Ser)
 gnomAD v4
8g.99861779C>TCA371790190VPS13Bc.*217C>T (n.*217C>T)
n.11193C>T
c.*6805C>T (n.*6805C>T)
c.11048C>T (p.Thr3683Ile)
c.11123C>T (p.Thr3708Ile)
c.11120C>T (p.Thr3707Ile)
c.11045C>T (p.Thr3682Ile)
c.10745C>T (p.Thr3582Ile)
c.8009C>T (p.Thr2670Ile)
c.6902C>T (p.Thr2301Ile)
c.10928C>T (p.Thr3643Ile)
c.6680C>T (p.Thr2227Ile)
c.9908C>T (p.Thr3303Ile)
8g.99861781delCA264001VPS13Bc.*219del (n.*219del)
n.11195del
c.*6807del (n.*6807del)
c.11050del (p.Leu3684SerfsTer?)
c.11125del (p.Leu3709SerfsTer?)
c.11122del (p.Leu3708SerfsTer?)
c.11047del (p.Leu3683SerfsTer?)
c.10747del (p.Leu3583SerfsTer?)
c.8011del (p.Leu2671SerfsTer?)
c.6904del (p.Leu2302SerfsTer?)
c.10930del (p.Leu3644SerfsTer?)
c.6682del (p.Leu2228SerfsTer?)
c.9910del (p.Leu3304SerfsTer?)
 ClinVar dbSNP gnomAD v4
8g.99861780C>ACA462338023VPS13Bc.*218C>A (n.*218C>A)
n.11194C>A
c.*6806C>A (n.*6806C>A)
c.11049C>A (p.Thr3683=)
c.11124C>A (p.Thr3708=)
c.11121C>A (p.Thr3707=)
c.11046C>A (p.Thr3682=)
c.10746C>A (p.Thr3582=)
c.8010C>A (p.Thr2670=)
c.6903C>A (p.Thr2301=)
c.10929C>A (p.Thr3643=)
c.6681C>A (p.Thr2227=)
c.9909C>A (p.Thr3303=)
 gnomAD v4
8g.99861780C>GCA462338025VPS13Bc.*218C>G (n.*218C>G)
n.11194C>G
c.*6806C>G (n.*6806C>G)
c.11049C>G (p.Thr3683=)
c.11124C>G (p.Thr3708=)
c.11121C>G (p.Thr3707=)
c.11046C>G (p.Thr3682=)
c.10746C>G (p.Thr3582=)
c.8010C>G (p.Thr2670=)
c.6903C>G (p.Thr2301=)
c.10929C>G (p.Thr3643=)
c.6681C>G (p.Thr2227=)
c.9909C>G (p.Thr3303=)
8g.99861780C>TCA462338024VPS13Bc.*218C>T (n.*218C>T)
n.11194C>T
c.*6806C>T (n.*6806C>T)
c.11049C>T (p.Thr3683=)
c.11124C>T (p.Thr3708=)
c.11121C>T (p.Thr3707=)
c.11046C>T (p.Thr3682=)
c.10746C>T (p.Thr3582=)
c.8010C>T (p.Thr2670=)
c.6903C>T (p.Thr2301=)
c.10929C>T (p.Thr3643=)
c.6681C>T (p.Thr2227=)
c.9909C>T (p.Thr3303=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99861781C>ACA371790193VPS13Bc.*219C>A (n.*219C>A)
n.11195C>A
c.*6807C>A (n.*6807C>A)
c.11050C>A (p.Leu3684Ile)
c.11125C>A (p.Leu3709Ile)
c.11122C>A (p.Leu3708Ile)
c.11047C>A (p.Leu3683Ile)
c.10747C>A (p.Leu3583Ile)
c.8011C>A (p.Leu2671Ile)
c.6904C>A (p.Leu2302Ile)
c.10930C>A (p.Leu3644Ile)
c.6682C>A (p.Leu2228Ile)
c.9910C>A (p.Leu3304Ile)
 gnomAD v4
8g.99861781C>GCA371790194VPS13Bc.*219C>G (n.*219C>G)
n.11195C>G
c.*6807C>G (n.*6807C>G)
c.11050C>G (p.Leu3684Val)
c.11125C>G (p.Leu3709Val)
c.11122C>G (p.Leu3708Val)
c.11047C>G (p.Leu3683Val)
c.10747C>G (p.Leu3583Val)
c.8011C>G (p.Leu2671Val)
c.6904C>G (p.Leu2302Val)
c.10930C>G (p.Leu3644Val)
c.6682C>G (p.Leu2228Val)
c.9910C>G (p.Leu3304Val)
 dbSNP gnomAD v2 gnomAD v4
8g.99861781C>TCA371790195VPS13Bc.*219C>T (n.*219C>T)
n.11195C>T
c.*6807C>T (n.*6807C>T)
c.11050C>T (p.Leu3684Phe)
c.11125C>T (p.Leu3709Phe)
c.11122C>T (p.Leu3708Phe)
c.11047C>T (p.Leu3683Phe)
c.10747C>T (p.Leu3583Phe)
c.8011C>T (p.Leu2671Phe)
c.6904C>T (p.Leu2302Phe)
c.10930C>T (p.Leu3644Phe)
c.6682C>T (p.Leu2228Phe)
c.9910C>T (p.Leu3304Phe)
 dbSNP gnomAD v2 gnomAD v4
8g.99861782T>ACA371790197VPS13Bc.*220T>A (n.*220T>A)
n.11196T>A
c.*6808T>A (n.*6808T>A)
c.11051T>A (p.Leu3684His)
c.11126T>A (p.Leu3709His)
c.11123T>A (p.Leu3708His)
c.11048T>A (p.Leu3683His)
c.10748T>A (p.Leu3583His)
c.8012T>A (p.Leu2671His)
c.6905T>A (p.Leu2302His)
c.10931T>A (p.Leu3644His)
c.6683T>A (p.Leu2228His)
c.9911T>A (p.Leu3304His)
8g.99861782T>CCA371790198VPS13Bc.*220T>C (n.*220T>C)
n.11196T>C
c.*6808T>C (n.*6808T>C)
c.11051T>C (p.Leu3684Pro)
c.11126T>C (p.Leu3709Pro)
c.11123T>C (p.Leu3708Pro)
c.11048T>C (p.Leu3683Pro)
c.10748T>C (p.Leu3583Pro)
c.8012T>C (p.Leu2671Pro)
c.6905T>C (p.Leu2302Pro)
c.10931T>C (p.Leu3644Pro)
c.6683T>C (p.Leu2228Pro)
c.9911T>C (p.Leu3304Pro)
 gnomAD v4
8g.99861782T>GCA371790200VPS13Bc.*220T>G (n.*220T>G)
n.11196T>G
c.*6808T>G (n.*6808T>G)
c.11051T>G (p.Leu3684Arg)
c.11126T>G (p.Leu3709Arg)
c.11123T>G (p.Leu3708Arg)
c.11048T>G (p.Leu3683Arg)
c.10748T>G (p.Leu3583Arg)
c.8012T>G (p.Leu2671Arg)
c.6905T>G (p.Leu2302Arg)
c.10931T>G (p.Leu3644Arg)
c.6683T>G (p.Leu2228Arg)
c.9911T>G (p.Leu3304Arg)
8g.99861783C>ACA462338026VPS13Bc.*221C>A (n.*221C>A)
n.11197C>A
c.*6809C>A (n.*6809C>A)
c.11052C>A (p.Leu3684=)
c.11127C>A (p.Leu3709=)
c.11124C>A (p.Leu3708=)
c.11049C>A (p.Leu3683=)
c.10749C>A (p.Leu3583=)
c.8013C>A (p.Leu2671=)
c.6906C>A (p.Leu2302=)
c.10932C>A (p.Leu3644=)
c.6684C>A (p.Leu2228=)
c.9912C>A (p.Leu3304=)
 gnomAD v4
8g.99861783C>GCA4825133VPS13Bc.*221C>G (n.*221C>G)
n.11197C>G
c.*6809C>G (n.*6809C>G)
c.11052C>G (p.Leu3684=)
c.11127C>G (p.Leu3709=)
c.11124C>G (p.Leu3708=)
c.11049C>G (p.Leu3683=)
c.10749C>G (p.Leu3583=)
c.8013C>G (p.Leu2671=)
c.6906C>G (p.Leu2302=)
c.10932C>G (p.Leu3644=)
c.6684C>G (p.Leu2228=)
c.9912C>G (p.Leu3304=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99861783C>TCA462338027VPS13Bc.*221C>T (n.*221C>T)
n.11197C>T
c.*6809C>T (n.*6809C>T)
c.11052C>T (p.Leu3684=)
c.11127C>T (p.Leu3709=)
c.11124C>T (p.Leu3708=)
c.11049C>T (p.Leu3683=)
c.10749C>T (p.Leu3583=)
c.8013C>T (p.Leu2671=)
c.6906C>T (p.Leu2302=)
c.10932C>T (p.Leu3644=)
c.6684C>T (p.Leu2228=)
c.9912C>T (p.Leu3304=)
 dbSNP gnomAD v4
8g.99861784A>CCA371790204VPS13Bc.*222A>C (n.*222A>C)
n.11198A>C
c.*6810A>C (n.*6810A>C)
c.11053A>C (p.Thr3685Pro)
c.11128A>C (p.Thr3710Pro)
c.11125A>C (p.Thr3709Pro)
c.11050A>C (p.Thr3684Pro)
c.10750A>C (p.Thr3584Pro)
c.8014A>C (p.Thr2672Pro)
c.6907A>C (p.Thr2303Pro)
c.10933A>C (p.Thr3645Pro)
c.6685A>C (p.Thr2229Pro)
c.9913A>C (p.Thr3305Pro)
8g.99861784A>GCA371790205VPS13Bc.*222A>G (n.*222A>G)
n.11198A>G
c.*6810A>G (n.*6810A>G)
c.11053A>G (p.Thr3685Ala)
c.11128A>G (p.Thr3710Ala)
c.11125A>G (p.Thr3709Ala)
c.11050A>G (p.Thr3684Ala)
c.10750A>G (p.Thr3584Ala)
c.8014A>G (p.Thr2672Ala)
c.6907A>G (p.Thr2303Ala)
c.10933A>G (p.Thr3645Ala)
c.6685A>G (p.Thr2229Ala)
c.9913A>G (p.Thr3305Ala)
8g.99861784A>TCA371790207VPS13Bc.*222A>T (n.*222A>T)
n.11198A>T
c.*6810A>T (n.*6810A>T)
c.11053A>T (p.Thr3685Ser)
c.11128A>T (p.Thr3710Ser)
c.11125A>T (p.Thr3709Ser)
c.11050A>T (p.Thr3684Ser)
c.10750A>T (p.Thr3584Ser)
c.8014A>T (p.Thr2672Ser)
c.6907A>T (p.Thr2303Ser)
c.10933A>T (p.Thr3645Ser)
c.6685A>T (p.Thr2229Ser)
c.9913A>T (p.Thr3305Ser)
8g.99861785C>ACA371790211VPS13Bc.*223C>A (n.*223C>A)
n.11199C>A
c.*6811C>A (n.*6811C>A)
c.11054C>A (p.Thr3685Lys)
c.11129C>A (p.Thr3710Lys)
c.11126C>A (p.Thr3709Lys)
c.11051C>A (p.Thr3684Lys)
c.10751C>A (p.Thr3584Lys)
c.8015C>A (p.Thr2672Lys)
c.6908C>A (p.Thr2303Lys)
c.10934C>A (p.Thr3645Lys)
c.6686C>A (p.Thr2229Lys)
c.9914C>A (p.Thr3305Lys)
8g.99861785C>GCA371790213VPS13Bc.*223C>G (n.*223C>G)
n.11199C>G
c.*6811C>G (n.*6811C>G)
c.11054C>G (p.Thr3685Arg)
c.11129C>G (p.Thr3710Arg)
c.11126C>G (p.Thr3709Arg)
c.11051C>G (p.Thr3684Arg)
c.10751C>G (p.Thr3584Arg)
c.8015C>G (p.Thr2672Arg)
c.6908C>G (p.Thr2303Arg)
c.10934C>G (p.Thr3645Arg)
c.6686C>G (p.Thr2229Arg)
c.9914C>G (p.Thr3305Arg)
8g.99861785C>TCA371790209VPS13Bc.*223C>T (n.*223C>T)
n.11199C>T
c.*6811C>T (n.*6811C>T)
c.11054C>T (p.Thr3685Ile)
c.11129C>T (p.Thr3710Ile)
c.11126C>T (p.Thr3709Ile)
c.11051C>T (p.Thr3684Ile)
c.10751C>T (p.Thr3584Ile)
c.8015C>T (p.Thr2672Ile)
c.6908C>T (p.Thr2303Ile)
c.10934C>T (p.Thr3645Ile)
c.6686C>T (p.Thr2229Ile)
c.9914C>T (p.Thr3305Ile)
 gnomAD v4
8g.99861786A>CCA462338028VPS13Bc.*224A>C (n.*224A>C)
n.11200A>C
c.*6812A>C (n.*6812A>C)
c.11055A>C (p.Thr3685=)
c.11130A>C (p.Thr3710=)
c.11127A>C (p.Thr3709=)
c.11052A>C (p.Thr3684=)
c.10752A>C (p.Thr3584=)
c.8016A>C (p.Thr2672=)
c.6909A>C (p.Thr2303=)
c.10935A>C (p.Thr3645=)
c.6687A>C (p.Thr2229=)
c.9915A>C (p.Thr3305=)
8g.99861786A>GCA462338029VPS13Bc.*224A>G (n.*224A>G)
n.11200A>G
c.*6812A>G (n.*6812A>G)
c.11055A>G (p.Thr3685=)
c.11130A>G (p.Thr3710=)
c.11127A>G (p.Thr3709=)
c.11052A>G (p.Thr3684=)
c.10752A>G (p.Thr3584=)
c.8016A>G (p.Thr2672=)
c.6909A>G (p.Thr2303=)
c.10935A>G (p.Thr3645=)
c.6687A>G (p.Thr2229=)
c.9915A>G (p.Thr3305=)
 ClinVar dbSNP gnomAD v4
8g.99861786A>TCA462338030VPS13Bc.*224A>T (n.*224A>T)
n.11200A>T
c.*6812A>T (n.*6812A>T)
c.11055A>T (p.Thr3685=)
c.11130A>T (p.Thr3710=)
c.11127A>T (p.Thr3709=)
c.11052A>T (p.Thr3684=)
c.10752A>T (p.Thr3584=)
c.8016A>T (p.Thr2672=)
c.6909A>T (p.Thr2303=)
c.10935A>T (p.Thr3645=)
c.6687A>T (p.Thr2229=)
c.9915A>T (p.Thr3305=)
8g.99861787T>ACA371790220VPS13Bc.*225T>A (n.*225T>A)
n.11201T>A
c.*6813T>A (n.*6813T>A)
c.11056T>A (p.Ser3686Thr)
c.11131T>A (p.Ser3711Thr)
c.11128T>A (p.Ser3710Thr)
c.11053T>A (p.Ser3685Thr)
c.10753T>A (p.Ser3585Thr)
c.8017T>A (p.Ser2673Thr)
c.6910T>A (p.Ser2304Thr)
c.10936T>A (p.Ser3646Thr)
c.6688T>A (p.Ser2230Thr)
c.9916T>A (p.Ser3306Thr)
8g.99861787T>CCA371790217VPS13Bc.*225T>C (n.*225T>C)
n.11201T>C
c.*6813T>C (n.*6813T>C)
c.11056T>C (p.Ser3686Pro)
c.11131T>C (p.Ser3711Pro)
c.11128T>C (p.Ser3710Pro)
c.11053T>C (p.Ser3685Pro)
c.10753T>C (p.Ser3585Pro)
c.8017T>C (p.Ser2673Pro)
c.6910T>C (p.Ser2304Pro)
c.10936T>C (p.Ser3646Pro)
c.6688T>C (p.Ser2230Pro)
c.9916T>C (p.Ser3306Pro)
8g.99861787T>GCA371790219VPS13Bc.*225T>G (n.*225T>G)
n.11201T>G
c.*6813T>G (n.*6813T>G)
c.11056T>G (p.Ser3686Ala)
c.11131T>G (p.Ser3711Ala)
c.11128T>G (p.Ser3710Ala)
c.11053T>G (p.Ser3685Ala)
c.10753T>G (p.Ser3585Ala)
c.8017T>G (p.Ser2673Ala)
c.6910T>G (p.Ser2304Ala)
c.10936T>G (p.Ser3646Ala)
c.6688T>G (p.Ser2230Ala)
c.9916T>G (p.Ser3306Ala)
8g.99861788C>ACA371790221VPS13Bc.*226C>A (n.*226C>A)
n.11202C>A
c.*6814C>A (n.*6814C>A)
c.11057C>A (p.Ser3686Tyr)
c.11132C>A (p.Ser3711Tyr)
c.11129C>A (p.Ser3710Tyr)
c.11054C>A (p.Ser3685Tyr)
c.10754C>A (p.Ser3585Tyr)
c.8018C>A (p.Ser2673Tyr)
c.6911C>A (p.Ser2304Tyr)
c.10937C>A (p.Ser3646Tyr)
c.6689C>A (p.Ser2230Tyr)
c.9917C>A (p.Ser3306Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.99861788C>GCA371790222VPS13Bc.*226C>G (n.*226C>G)
n.11202C>G
c.*6814C>G (n.*6814C>G)
c.11057C>G (p.Ser3686Cys)
c.11132C>G (p.Ser3711Cys)
c.11129C>G (p.Ser3710Cys)
c.11054C>G (p.Ser3685Cys)
c.10754C>G (p.Ser3585Cys)
c.8018C>G (p.Ser2673Cys)
c.6911C>G (p.Ser2304Cys)
c.10937C>G (p.Ser3646Cys)
c.6689C>G (p.Ser2230Cys)
c.9917C>G (p.Ser3306Cys)
8g.99861788C>TCA371790223VPS13Bc.*226C>T (n.*226C>T)
n.11202C>T
c.*6814C>T (n.*6814C>T)
c.11057C>T (p.Ser3686Phe)
c.11132C>T (p.Ser3711Phe)
c.11129C>T (p.Ser3710Phe)
c.11054C>T (p.Ser3685Phe)
c.10754C>T (p.Ser3585Phe)
c.8018C>T (p.Ser2673Phe)
c.6911C>T (p.Ser2304Phe)
c.10937C>T (p.Ser3646Phe)
c.6689C>T (p.Ser2230Phe)
c.9917C>T (p.Ser3306Phe)
 gnomAD v4
8g.99861789C>ACA462338031VPS13Bc.*227C>A (n.*227C>A)
n.11203C>A
c.*6815C>A (n.*6815C>A)
c.11058C>A (p.Ser3686=)
c.11133C>A (p.Ser3711=)
c.11130C>A (p.Ser3710=)
c.11055C>A (p.Ser3685=)
c.10755C>A (p.Ser3585=)
c.8019C>A (p.Ser2673=)
c.6912C>A (p.Ser2304=)
c.10938C>A (p.Ser3646=)
c.6690C>A (p.Ser2230=)
c.9918C>A (p.Ser3306=)
 gnomAD v4
8g.99861789C>GCA462338032VPS13Bc.*227C>G (n.*227C>G)
n.11203C>G
c.*6815C>G (n.*6815C>G)
c.11058C>G (p.Ser3686=)
c.11133C>G (p.Ser3711=)
c.11130C>G (p.Ser3710=)
c.11055C>G (p.Ser3685=)
c.10755C>G (p.Ser3585=)
c.8019C>G (p.Ser2673=)
c.6912C>G (p.Ser2304=)
c.10938C>G (p.Ser3646=)
c.6690C>G (p.Ser2230=)
c.9918C>G (p.Ser3306=)
8g.99861789C>TCA462338033VPS13Bc.*227C>T (n.*227C>T)
n.11203C>T
c.*6815C>T (n.*6815C>T)
c.11058C>T (p.Ser3686=)
c.11133C>T (p.Ser3711=)
c.11130C>T (p.Ser3710=)
c.11055C>T (p.Ser3685=)
c.10755C>T (p.Ser3585=)
c.8019C>T (p.Ser2673=)
c.6912C>T (p.Ser2304=)
c.10938C>T (p.Ser3646=)
c.6690C>T (p.Ser2230=)
c.9918C>T (p.Ser3306=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99861790A>CCA371790226VPS13Bc.*228A>C (n.*228A>C)
n.11204A>C
c.*6816A>C (n.*6816A>C)
c.11059A>C (p.Ile3687Leu)
c.11134A>C (p.Ile3712Leu)
c.11131A>C (p.Ile3711Leu)
c.11056A>C (p.Ile3686Leu)
c.10756A>C (p.Ile3586Leu)
c.8020A>C (p.Ile2674Leu)
c.6913A>C (p.Ile2305Leu)
c.10939A>C (p.Ile3647Leu)
c.6691A>C (p.Ile2231Leu)
c.9919A>C (p.Ile3307Leu)
8g.99861790A>GCA182321295VPS13Bc.*228A>G (n.*228A>G)
n.11204A>G
c.*6816A>G (n.*6816A>G)
c.11059A>G (p.Ile3687Val)
c.11134A>G (p.Ile3712Val)
c.11131A>G (p.Ile3711Val)
c.11056A>G (p.Ile3686Val)
c.10756A>G (p.Ile3586Val)
c.8020A>G (p.Ile2674Val)
c.6913A>G (p.Ile2305Val)
c.10939A>G (p.Ile3647Val)
c.6691A>G (p.Ile2231Val)
c.9919A>G (p.Ile3307Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.99861790A>TCA371790227VPS13Bc.*228A>T (n.*228A>T)
n.11204A>T
c.*6816A>T (n.*6816A>T)
c.11059A>T (p.Ile3687Phe)
c.11134A>T (p.Ile3712Phe)
c.11131A>T (p.Ile3711Phe)
c.11056A>T (p.Ile3686Phe)
c.10756A>T (p.Ile3586Phe)
c.8020A>T (p.Ile2674Phe)
c.6913A>T (p.Ile2305Phe)
c.10939A>T (p.Ile3647Phe)
c.6691A>T (p.Ile2231Phe)
c.9919A>T (p.Ile3307Phe)
8g.99861791T>ACA371790229VPS13Bc.*229T>A (n.*229T>A)
n.11205T>A
c.*6817T>A (n.*6817T>A)
c.11060T>A (p.Ile3687Asn)
c.11135T>A (p.Ile3712Asn)
c.11132T>A (p.Ile3711Asn)
c.11057T>A (p.Ile3686Asn)
c.10757T>A (p.Ile3586Asn)
c.8021T>A (p.Ile2674Asn)
c.6914T>A (p.Ile2305Asn)
c.10940T>A (p.Ile3647Asn)
c.6692T>A (p.Ile2231Asn)
c.9920T>A (p.Ile3307Asn)
8g.99861791T>CCA371790232VPS13Bc.*229T>C (n.*229T>C)
n.11205T>C
c.*6817T>C (n.*6817T>C)
c.11060T>C (p.Ile3687Thr)
c.11135T>C (p.Ile3712Thr)
c.11132T>C (p.Ile3711Thr)
c.11057T>C (p.Ile3686Thr)
c.10757T>C (p.Ile3586Thr)
c.8021T>C (p.Ile2674Thr)
c.6914T>C (p.Ile2305Thr)
c.10940T>C (p.Ile3647Thr)
c.6692T>C (p.Ile2231Thr)
c.9920T>C (p.Ile3307Thr)
 gnomAD v4
8g.99861791T>GCA371790234VPS13Bc.*229T>G (n.*229T>G)
n.11205T>G
c.*6817T>G (n.*6817T>G)
c.11060T>G (p.Ile3687Ser)
c.11135T>G (p.Ile3712Ser)
c.11132T>G (p.Ile3711Ser)
c.11057T>G (p.Ile3686Ser)
c.10757T>G (p.Ile3586Ser)
c.8021T>G (p.Ile2674Ser)
c.6914T>G (p.Ile2305Ser)
c.10940T>G (p.Ile3647Ser)
c.6692T>G (p.Ile2231Ser)
c.9920T>G (p.Ile3307Ser)
8g.99861792C>ACA462338035VPS13Bc.*230C>A (n.*230C>A)
n.11206C>A
c.*6818C>A (n.*6818C>A)
c.11061C>A (p.Ile3687=)
c.11136C>A (p.Ile3712=)
c.11133C>A (p.Ile3711=)
c.11058C>A (p.Ile3686=)
c.10758C>A (p.Ile3586=)
c.8022C>A (p.Ile2674=)
c.6915C>A (p.Ile2305=)
c.10941C>A (p.Ile3647=)
c.6693C>A (p.Ile2231=)
c.9921C>A (p.Ile3307=)
 gnomAD v4
8g.99861792C>GCA371790236VPS13Bc.*230C>G (n.*230C>G)
n.11206C>G
c.*6818C>G (n.*6818C>G)
c.11061C>G (p.Ile3687Met)
c.11136C>G (p.Ile3712Met)
c.11133C>G (p.Ile3711Met)
c.11058C>G (p.Ile3686Met)
c.10758C>G (p.Ile3586Met)
c.8022C>G (p.Ile2674Met)
c.6915C>G (p.Ile2305Met)
c.10941C>G (p.Ile3647Met)
c.6693C>G (p.Ile2231Met)
c.9921C>G (p.Ile3307Met)
8g.99861792C>TCA462338036VPS13Bc.*230C>T (n.*230C>T)
n.11206C>T
c.*6818C>T (n.*6818C>T)
c.11061C>T (p.Ile3687=)
c.11136C>T (p.Ile3712=)
c.11133C>T (p.Ile3711=)
c.11058C>T (p.Ile3686=)
c.10758C>T (p.Ile3586=)
c.8022C>T (p.Ile2674=)
c.6915C>T (p.Ile2305=)
c.10941C>T (p.Ile3647=)
c.6693C>T (p.Ile2231=)
c.9921C>T (p.Ile3307=)
 ClinVar dbSNP
8g.99861793A>CCA371790242VPS13Bc.*231A>C (n.*231A>C)
n.11207A>C
c.*6819A>C (n.*6819A>C)
c.11062A>C (p.Thr3688Pro)
c.11137A>C (p.Thr3713Pro)
c.11134A>C (p.Thr3712Pro)
c.11059A>C (p.Thr3687Pro)
c.10759A>C (p.Thr3587Pro)
c.8023A>C (p.Thr2675Pro)
c.6916A>C (p.Thr2306Pro)
c.10942A>C (p.Thr3648Pro)
c.6694A>C (p.Thr2232Pro)
c.9922A>C (p.Thr3308Pro)
 dbSNP
8g.99861793A>GCA371790238VPS13Bc.*231A>G (n.*231A>G)
n.11207A>G
c.*6819A>G (n.*6819A>G)
c.11062A>G (p.Thr3688Ala)
c.11137A>G (p.Thr3713Ala)
c.11134A>G (p.Thr3712Ala)
c.11059A>G (p.Thr3687Ala)
c.10759A>G (p.Thr3587Ala)
c.8023A>G (p.Thr2675Ala)
c.6916A>G (p.Thr2306Ala)
c.10942A>G (p.Thr3648Ala)
c.6694A>G (p.Thr2232Ala)
c.9922A>G (p.Thr3308Ala)
8g.99861793A>TCA371790240VPS13Bc.*231A>T (n.*231A>T)
n.11207A>T
c.*6819A>T (n.*6819A>T)
c.11062A>T (p.Thr3688Ser)
c.11137A>T (p.Thr3713Ser)
c.11134A>T (p.Thr3712Ser)
c.11059A>T (p.Thr3687Ser)
c.10759A>T (p.Thr3587Ser)
c.8023A>T (p.Thr2675Ser)
c.6916A>T (p.Thr2306Ser)
c.10942A>T (p.Thr3648Ser)
c.6694A>T (p.Thr2232Ser)
c.9922A>T (p.Thr3308Ser)
 ClinVar dbSNP gnomAD v4
8g.99861794C>ACA371790244VPS13Bc.*232C>A (n.*232C>A)
n.11208C>A
c.*6820C>A (n.*6820C>A)
c.11063C>A (p.Thr3688Asn)
c.11138C>A (p.Thr3713Asn)
c.11135C>A (p.Thr3712Asn)
c.11060C>A (p.Thr3687Asn)
c.10760C>A (p.Thr3587Asn)
c.8024C>A (p.Thr2675Asn)
c.6917C>A (p.Thr2306Asn)
c.10943C>A (p.Thr3648Asn)
c.6695C>A (p.Thr2232Asn)
c.9923C>A (p.Thr3308Asn)
8g.99861794C>GCA371790246VPS13Bc.*232C>G (n.*232C>G)
n.11208C>G
c.*6820C>G (n.*6820C>G)
c.11063C>G (p.Thr3688Ser)
c.11138C>G (p.Thr3713Ser)
c.11135C>G (p.Thr3712Ser)
c.11060C>G (p.Thr3687Ser)
c.10760C>G (p.Thr3587Ser)
c.8024C>G (p.Thr2675Ser)
c.6917C>G (p.Thr2306Ser)
c.10943C>G (p.Thr3648Ser)
c.6695C>G (p.Thr2232Ser)
c.9923C>G (p.Thr3308Ser)
8g.99861794C>TCA371790247VPS13Bc.*232C>T (n.*232C>T)
n.11208C>T
c.*6820C>T (n.*6820C>T)
c.11063C>T (p.Thr3688Ile)
c.11138C>T (p.Thr3713Ile)
c.11135C>T (p.Thr3712Ile)
c.11060C>T (p.Thr3687Ile)
c.10760C>T (p.Thr3587Ile)
c.8024C>T (p.Thr2675Ile)
c.6917C>T (p.Thr2306Ile)
c.10943C>T (p.Thr3648Ile)
c.6695C>T (p.Thr2232Ile)
c.9923C>T (p.Thr3308Ile)
 dbSNP gnomAD v2 gnomAD v4
8g.99861795C>ACA462338037VPS13Bc.*233C>A (n.*233C>A)
n.11209C>A
c.*6821C>A (n.*6821C>A)
c.11064C>A (p.Thr3688=)
c.11139C>A (p.Thr3713=)
c.11136C>A (p.Thr3712=)
c.11061C>A (p.Thr3687=)
c.10761C>A (p.Thr3587=)
c.8025C>A (p.Thr2675=)
c.6918C>A (p.Thr2306=)
c.10944C>A (p.Thr3648=)
c.6696C>A (p.Thr2232=)
c.9924C>A (p.Thr3308=)
 gnomAD v4
8g.99861795C>GCA462338038VPS13Bc.*233C>G (n.*233C>G)
n.11209C>G
c.*6821C>G (n.*6821C>G)
c.11064C>G (p.Thr3688=)
c.11139C>G (p.Thr3713=)
c.11136C>G (p.Thr3712=)
c.11061C>G (p.Thr3687=)
c.10761C>G (p.Thr3587=)
c.8025C>G (p.Thr2675=)
c.6918C>G (p.Thr2306=)
c.10944C>G (p.Thr3648=)
c.6696C>G (p.Thr2232=)
c.9924C>G (p.Thr3308=)
8g.99861795C>TCA4825134VPS13Bc.*233C>T (n.*233C>T)
n.11209C>T
c.*6821C>T (n.*6821C>T)
c.11064C>T (p.Thr3688=)
c.11139C>T (p.Thr3713=)
c.11136C>T (p.Thr3712=)
c.11061C>T (p.Thr3687=)
c.10761C>T (p.Thr3587=)
c.8025C>T (p.Thr2675=)
c.6918C>T (p.Thr2306=)
c.10944C>T (p.Thr3648=)
c.6696C>T (p.Thr2232=)
c.9924C>T (p.Thr3308=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99861796A>CCA371790251VPS13Bc.*234A>C (n.*234A>C)
n.11210A>C
c.*6822A>C (n.*6822A>C)
c.11065A>C (p.Asn3689His)
c.11140A>C (p.Asn3714His)
c.11137A>C (p.Asn3713His)
c.11062A>C (p.Asn3688His)
c.10762A>C (p.Asn3588His)
c.8026A>C (p.Asn2676His)
c.6919A>C (p.Asn2307His)
c.10945A>C (p.Asn3649His)
c.6697A>C (p.Asn2233His)
c.9925A>C (p.Asn3309His)
8g.99861796A>GCA371790252VPS13Bc.*234A>G (n.*234A>G)
n.11210A>G
c.*6822A>G (n.*6822A>G)
c.11065A>G (p.Asn3689Asp)
c.11140A>G (p.Asn3714Asp)
c.11137A>G (p.Asn3713Asp)
c.11062A>G (p.Asn3688Asp)
c.10762A>G (p.Asn3588Asp)
c.8026A>G (p.Asn2676Asp)
c.6919A>G (p.Asn2307Asp)
c.10945A>G (p.Asn3649Asp)
c.6697A>G (p.Asn2233Asp)
c.9925A>G (p.Asn3309Asp)
8g.99861796A>TCA371790254VPS13Bc.*234A>T (n.*234A>T)
n.11210A>T
c.*6822A>T (n.*6822A>T)
c.11065A>T (p.Asn3689Tyr)
c.11140A>T (p.Asn3714Tyr)
c.11137A>T (p.Asn3713Tyr)
c.11062A>T (p.Asn3688Tyr)
c.10762A>T (p.Asn3588Tyr)
c.8026A>T (p.Asn2676Tyr)
c.6919A>T (p.Asn2307Tyr)
c.10945A>T (p.Asn3649Tyr)
c.6697A>T (p.Asn2233Tyr)
c.9925A>T (p.Asn3309Tyr)
8g.99861797A>CCA371790256VPS13Bc.*235A>C (n.*235A>C)
n.11211A>C
c.*6823A>C (n.*6823A>C)
c.11066A>C (p.Asn3689Thr)
c.11141A>C (p.Asn3714Thr)
c.11138A>C (p.Asn3713Thr)
c.11063A>C (p.Asn3688Thr)
c.10763A>C (p.Asn3588Thr)
c.8027A>C (p.Asn2676Thr)
c.6920A>C (p.Asn2307Thr)
c.10946A>C (p.Asn3649Thr)
c.6698A>C (p.Asn2233Thr)
c.9926A>C (p.Asn3309Thr)
8g.99861797A>GCA371790258VPS13Bc.*235A>G (n.*235A>G)
n.11211A>G
c.*6823A>G (n.*6823A>G)
c.11066A>G (p.Asn3689Ser)
c.11141A>G (p.Asn3714Ser)
c.11138A>G (p.Asn3713Ser)
c.11063A>G (p.Asn3688Ser)
c.10763A>G (p.Asn3588Ser)
c.8027A>G (p.Asn2676Ser)
c.6920A>G (p.Asn2307Ser)
c.10946A>G (p.Asn3649Ser)
c.6698A>G (p.Asn2233Ser)
c.9926A>G (p.Asn3309Ser)
8g.99861797A>TCA371790260VPS13Bc.*235A>T (n.*235A>T)
n.11211A>T
c.*6823A>T (n.*6823A>T)
c.11066A>T (p.Asn3689Ile)
c.11141A>T (p.Asn3714Ile)
c.11138A>T (p.Asn3713Ile)
c.11063A>T (p.Asn3688Ile)
c.10763A>T (p.Asn3588Ile)
c.8027A>T (p.Asn2676Ile)
c.6920A>T (p.Asn2307Ile)
c.10946A>T (p.Asn3649Ile)
c.6698A>T (p.Asn2233Ile)
c.9926A>T (p.Asn3309Ile)
8g.99861798C>ACA371790262VPS13Bc.*236C>A (n.*236C>A)
n.11212C>A
c.*6824C>A (n.*6824C>A)
c.11067C>A (p.Asn3689Lys)
c.11142C>A (p.Asn3714Lys)
c.11139C>A (p.Asn3713Lys)
c.11064C>A (p.Asn3688Lys)
c.10764C>A (p.Asn3588Lys)
c.8028C>A (p.Asn2676Lys)
c.6921C>A (p.Asn2307Lys)
c.10947C>A (p.Asn3649Lys)
c.6699C>A (p.Asn2233Lys)
c.9927C>A (p.Asn3309Lys)
8g.99861798C>GCA371790264VPS13Bc.*236C>G (n.*236C>G)
n.11212C>G
c.*6824C>G (n.*6824C>G)
c.11067C>G (p.Asn3689Lys)
c.11142C>G (p.Asn3714Lys)
c.11139C>G (p.Asn3713Lys)
c.11064C>G (p.Asn3688Lys)
c.10764C>G (p.Asn3588Lys)
c.8028C>G (p.Asn2676Lys)
c.6921C>G (p.Asn2307Lys)
c.10947C>G (p.Asn3649Lys)
c.6699C>G (p.Asn2233Lys)
c.9927C>G (p.Asn3309Lys)
8g.99861798C>TCA462338039VPS13Bc.*236C>T (n.*236C>T)
n.11212C>T
c.*6824C>T (n.*6824C>T)
c.11067C>T (p.Asn3689=)
c.11142C>T (p.Asn3714=)
c.11139C>T (p.Asn3713=)
c.11064C>T (p.Asn3688=)
c.10764C>T (p.Asn3588=)
c.8028C>T (p.Asn2676=)
c.6921C>T (p.Asn2307=)
c.10947C>T (p.Asn3649=)
c.6699C>T (p.Asn2233=)
c.9927C>T (p.Asn3309=)
8g.99861799C>ACA4825135VPS13Bc.*237C>A (n.*237C>A)
n.11213C>A
c.*6825C>A (n.*6825C>A)
c.11068C>A (p.Leu3690Ile)
c.11143C>A (p.Leu3715Ile)
c.11140C>A (p.Leu3714Ile)
c.11065C>A (p.Leu3689Ile)
c.10765C>A (p.Leu3589Ile)
c.8029C>A (p.Leu2677Ile)
c.6922C>A (p.Leu2308Ile)
c.10948C>A (p.Leu3650Ile)
c.6700C>A (p.Leu2234Ile)
c.9928C>A (p.Leu3310Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99861799C>GCA371790269VPS13Bc.*237C>G (n.*237C>G)
n.11213C>G
c.*6825C>G (n.*6825C>G)
c.11068C>G (p.Leu3690Val)
c.11143C>G (p.Leu3715Val)
c.11140C>G (p.Leu3714Val)
c.11065C>G (p.Leu3689Val)
c.10765C>G (p.Leu3589Val)
c.8029C>G (p.Leu2677Val)
c.6922C>G (p.Leu2308Val)
c.10948C>G (p.Leu3650Val)
c.6700C>G (p.Leu2234Val)
c.9928C>G (p.Leu3310Val)
8g.99861799C>TCA371790266VPS13Bc.*237C>T (n.*237C>T)
n.11213C>T
c.*6825C>T (n.*6825C>T)
c.11068C>T (p.Leu3690Phe)
c.11143C>T (p.Leu3715Phe)
c.11140C>T (p.Leu3714Phe)
c.11065C>T (p.Leu3689Phe)
c.10765C>T (p.Leu3589Phe)
c.8029C>T (p.Leu2677Phe)
c.6922C>T (p.Leu2308Phe)
c.10948C>T (p.Leu3650Phe)
c.6700C>T (p.Leu2234Phe)
c.9928C>T (p.Leu3310Phe)
8g.99861800T>ACA371790271VPS13Bc.*238T>A (n.*238T>A)
n.11214T>A
c.*6826T>A (n.*6826T>A)
c.11069T>A (p.Leu3690His)
c.11144T>A (p.Leu3715His)
c.11141T>A (p.Leu3714His)
c.11066T>A (p.Leu3689His)
c.10766T>A (p.Leu3589His)
c.8030T>A (p.Leu2677His)
c.6923T>A (p.Leu2308His)
c.10949T>A (p.Leu3650His)
c.6701T>A (p.Leu2234His)
c.9929T>A (p.Leu3310His)
8g.99861800T>CCA371790272VPS13Bc.*238T>C (n.*238T>C)
n.11214T>C
c.*6826T>C (n.*6826T>C)
c.11069T>C (p.Leu3690Pro)
c.11144T>C (p.Leu3715Pro)
c.11141T>C (p.Leu3714Pro)
c.11066T>C (p.Leu3689Pro)
c.10766T>C (p.Leu3589Pro)
c.8030T>C (p.Leu2677Pro)
c.6923T>C (p.Leu2308Pro)
c.10949T>C (p.Leu3650Pro)
c.6701T>C (p.Leu2234Pro)
c.9929T>C (p.Leu3310Pro)
8g.99861800T>GCA371790275VPS13Bc.*238T>G (n.*238T>G)
n.11214T>G
c.*6826T>G (n.*6826T>G)
c.11069T>G (p.Leu3690Arg)
c.11144T>G (p.Leu3715Arg)
c.11141T>G (p.Leu3714Arg)
c.11066T>G (p.Leu3689Arg)
c.10766T>G (p.Leu3589Arg)
c.8030T>G (p.Leu2677Arg)
c.6923T>G (p.Leu2308Arg)
c.10949T>G (p.Leu3650Arg)
c.6701T>G (p.Leu2234Arg)
c.9929T>G (p.Leu3310Arg)
8g.99861801C>ACA462338040VPS13Bc.*239C>A (n.*239C>A)
n.11215C>A
c.*6827C>A (n.*6827C>A)
c.11070C>A (p.Leu3690=)
c.11145C>A (p.Leu3715=)
c.11142C>A (p.Leu3714=)
c.11067C>A (p.Leu3689=)
c.10767C>A (p.Leu3589=)
c.8031C>A (p.Leu2677=)
c.6924C>A (p.Leu2308=)
c.10950C>A (p.Leu3650=)
c.6702C>A (p.Leu2234=)
c.9930C>A (p.Leu3310=)
8g.99861801C>GCA462338041VPS13Bc.*239C>G (n.*239C>G)
n.11215C>G
c.*6827C>G (n.*6827C>G)
c.11070C>G (p.Leu3690=)
c.11145C>G (p.Leu3715=)
c.11142C>G (p.Leu3714=)
c.11067C>G (p.Leu3689=)
c.10767C>G (p.Leu3589=)
c.8031C>G (p.Leu2677=)
c.6924C>G (p.Leu2308=)
c.10950C>G (p.Leu3650=)
c.6702C>G (p.Leu2234=)
c.9930C>G (p.Leu3310=)
 ClinVar dbSNP
8g.99861801C>TCA4825136VPS13Bc.*239C>T (n.*239C>T)
n.11215C>T
c.*6827C>T (n.*6827C>T)
c.11070C>T (p.Leu3690=)
c.11145C>T (p.Leu3715=)
c.11142C>T (p.Leu3714=)
c.11067C>T (p.Leu3689=)
c.10767C>T (p.Leu3589=)
c.8031C>T (p.Leu2677=)
c.6924C>T (p.Leu2308=)
c.10950C>T (p.Leu3650=)
c.6702C>T (p.Leu2234=)
c.9930C>T (p.Leu3310=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99861802G>ACA148910VPS13Bc.*240G>A (n.*240G>A)
n.11216G>A
c.*6828G>A (n.*6828G>A)
c.11071G>A (p.Ala3691Thr)
c.11146G>A (p.Ala3716Thr)
c.11143G>A (p.Ala3715Thr)
c.11068G>A (p.Ala3690Thr)
c.10768G>A (p.Ala3590Thr)
c.8032G>A (p.Ala2678Thr)
c.6925G>A (p.Ala2309Thr)
c.10951G>A (p.Ala3651Thr)
c.6703G>A (p.Ala2235Thr)
c.9931G>A (p.Ala3311Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99861802G>CCA371790281VPS13Bc.*240G>C (n.*240G>C)
n.11216G>C
c.*6828G>C (n.*6828G>C)
c.11071G>C (p.Ala3691Pro)
c.11146G>C (p.Ala3716Pro)
c.11143G>C (p.Ala3715Pro)
c.11068G>C (p.Ala3690Pro)
c.10768G>C (p.Ala3590Pro)
c.8032G>C (p.Ala2678Pro)
c.6925G>C (p.Ala2309Pro)
c.10951G>C (p.Ala3651Pro)
c.6703G>C (p.Ala2235Pro)
c.9931G>C (p.Ala3311Pro)
8g.99861802G>TCA371790283VPS13Bc.*240G>T (n.*240G>T)
n.11216G>T
c.*6828G>T (n.*6828G>T)
c.11071G>T (p.Ala3691Ser)
c.11146G>T (p.Ala3716Ser)
c.11143G>T (p.Ala3715Ser)
c.11068G>T (p.Ala3690Ser)
c.10768G>T (p.Ala3590Ser)
c.8032G>T (p.Ala2678Ser)
c.6925G>T (p.Ala2309Ser)
c.10951G>T (p.Ala3651Ser)
c.6703G>T (p.Ala2235Ser)
c.9931G>T (p.Ala3311Ser)
 dbSNP gnomAD v2 gnomAD v4
8g.99861803C>ACA371790286VPS13Bc.*241C>A (n.*241C>A)
n.11217C>A
c.*6829C>A (n.*6829C>A)
c.11072C>A (p.Ala3691Asp)
c.11147C>A (p.Ala3716Asp)
c.11144C>A (p.Ala3715Asp)
c.11069C>A (p.Ala3690Asp)
c.10769C>A (p.Ala3590Asp)
c.8033C>A (p.Ala2678Asp)
c.6926C>A (p.Ala2309Asp)
c.10952C>A (p.Ala3651Asp)
c.6704C>A (p.Ala2235Asp)
c.9932C>A (p.Ala3311Asp)
 dbSNP gnomAD v2 gnomAD v4
8g.99861803C>GCA371790288VPS13Bc.*241C>G (n.*241C>G)
n.11217C>G
c.*6829C>G (n.*6829C>G)
c.11072C>G (p.Ala3691Gly)
c.11147C>G (p.Ala3716Gly)
c.11144C>G (p.Ala3715Gly)
c.11069C>G (p.Ala3690Gly)
c.10769C>G (p.Ala3590Gly)
c.8033C>G (p.Ala2678Gly)
c.6926C>G (p.Ala2309Gly)
c.10952C>G (p.Ala3651Gly)
c.6704C>G (p.Ala2235Gly)
c.9932C>G (p.Ala3311Gly)
8g.99861803C>TCA371790290VPS13Bc.*241C>T (n.*241C>T)
n.11217C>T
c.*6829C>T (n.*6829C>T)
c.11072C>T (p.Ala3691Val)
c.11147C>T (p.Ala3716Val)
c.11144C>T (p.Ala3715Val)
c.11069C>T (p.Ala3690Val)
c.10769C>T (p.Ala3590Val)
c.8033C>T (p.Ala2678Val)
c.6926C>T (p.Ala2309Val)
c.10952C>T (p.Ala3651Val)
c.6704C>T (p.Ala2235Val)
c.9932C>T (p.Ala3311Val)
 gnomAD v4
8g.99861804C>ACA462338042VPS13Bc.*242C>A (n.*242C>A)
n.11218C>A
c.*6830C>A (n.*6830C>A)
c.11073C>A (p.Ala3691=)
c.11148C>A (p.Ala3716=)
c.11145C>A (p.Ala3715=)
c.11070C>A (p.Ala3690=)
c.10770C>A (p.Ala3590=)
c.8034C>A (p.Ala2678=)
c.6927C>A (p.Ala2309=)
c.10953C>A (p.Ala3651=)
c.6705C>A (p.Ala2235=)
c.9933C>A (p.Ala3311=)
 gnomAD v4
8g.99861804C>GCA462338043VPS13Bc.*242C>G (n.*242C>G)
n.11218C>G
c.*6830C>G (n.*6830C>G)
c.11073C>G (p.Ala3691=)
c.11148C>G (p.Ala3716=)
c.11145C>G (p.Ala3715=)
c.11070C>G (p.Ala3690=)
c.10770C>G (p.Ala3590=)
c.8034C>G (p.Ala2678=)
c.6927C>G (p.Ala2309=)
c.10953C>G (p.Ala3651=)
c.6705C>G (p.Ala2235=)
c.9933C>G (p.Ala3311=)
8g.99861804C>TCA462338044VPS13Bc.*242C>T (n.*242C>T)
n.11218C>T
c.*6830C>T (n.*6830C>T)
c.11073C>T (p.Ala3691=)
c.11148C>T (p.Ala3716=)
c.11145C>T (p.Ala3715=)
c.11070C>T (p.Ala3690=)
c.10770C>T (p.Ala3590=)
c.8034C>T (p.Ala2678=)
c.6927C>T (p.Ala2309=)
c.10953C>T (p.Ala3651=)
c.6705C>T (p.Ala2235=)
c.9933C>T (p.Ala3311=)
8g.99861805A>CCA371790292VPS13Bc.*243A>C (n.*243A>C)
n.11219A>C
c.*6831A>C (n.*6831A>C)
c.11074A>C (p.Thr3692Pro)
c.11149A>C (p.Thr3717Pro)
c.11146A>C (p.Thr3716Pro)
c.11071A>C (p.Thr3691Pro)
c.10771A>C (p.Thr3591Pro)
c.8035A>C (p.Thr2679Pro)
c.6928A>C (p.Thr2310Pro)
c.10954A>C (p.Thr3652Pro)
c.6706A>C (p.Thr2236Pro)
c.9934A>C (p.Thr3312Pro)
8g.99861805A>GCA371790294VPS13Bc.*243A>G (n.*243A>G)
n.11219A>G
c.*6831A>G (n.*6831A>G)
c.11074A>G (p.Thr3692Ala)
c.11149A>G (p.Thr3717Ala)
c.11146A>G (p.Thr3716Ala)
c.11071A>G (p.Thr3691Ala)
c.10771A>G (p.Thr3591Ala)
c.8035A>G (p.Thr2679Ala)
c.6928A>G (p.Thr2310Ala)
c.10954A>G (p.Thr3652Ala)
c.6706A>G (p.Thr2236Ala)
c.9934A>G (p.Thr3312Ala)
8g.99861805A>TCA371790296VPS13Bc.*243A>T (n.*243A>T)
n.11219A>T
c.*6831A>T (n.*6831A>T)
c.11074A>T (p.Thr3692Ser)
c.11149A>T (p.Thr3717Ser)
c.11146A>T (p.Thr3716Ser)
c.11071A>T (p.Thr3691Ser)
c.10771A>T (p.Thr3591Ser)
c.8035A>T (p.Thr2679Ser)
c.6928A>T (p.Thr2310Ser)
c.10954A>T (p.Thr3652Ser)
c.6706A>T (p.Thr2236Ser)
c.9934A>T (p.Thr3312Ser)
8g.99861806C>ACA371790301VPS13Bc.*244C>A (n.*244C>A)
n.11220C>A
c.*6832C>A (n.*6832C>A)
c.11075C>A (p.Thr3692Lys)
c.11150C>A (p.Thr3717Lys)
c.11147C>A (p.Thr3716Lys)
c.11072C>A (p.Thr3691Lys)
c.10772C>A (p.Thr3591Lys)
c.8036C>A (p.Thr2679Lys)
c.6929C>A (p.Thr2310Lys)
c.10955C>A (p.Thr3652Lys)
c.6707C>A (p.Thr2236Lys)
c.9935C>A (p.Thr3312Lys)
 gnomAD v4
8g.99861806C>GCA371790303VPS13Bc.*244C>G (n.*244C>G)
n.11220C>G
c.*6832C>G (n.*6832C>G)
c.11075C>G (p.Thr3692Arg)
c.11150C>G (p.Thr3717Arg)
c.11147C>G (p.Thr3716Arg)
c.11072C>G (p.Thr3691Arg)
c.10772C>G (p.Thr3591Arg)
c.8036C>G (p.Thr2679Arg)
c.6929C>G (p.Thr2310Arg)
c.10955C>G (p.Thr3652Arg)
c.6707C>G (p.Thr2236Arg)
c.9935C>G (p.Thr3312Arg)
8g.99861806C>TCA371790299VPS13Bc.*244C>T (n.*244C>T)
n.11220C>T
c.*6832C>T (n.*6832C>T)
c.11075C>T (p.Thr3692Ile)
c.11150C>T (p.Thr3717Ile)
c.11147C>T (p.Thr3716Ile)
c.11072C>T (p.Thr3691Ile)
c.10772C>T (p.Thr3591Ile)
c.8036C>T (p.Thr2679Ile)
c.6929C>T (p.Thr2310Ile)
c.10955C>T (p.Thr3652Ile)
c.6707C>T (p.Thr2236Ile)
c.9935C>T (p.Thr3312Ile)
8g.99861807A>CCA462338045VPS13Bc.*245A>C (n.*245A>C)
n.11221A>C
c.*6833A>C (n.*6833A>C)
c.11076A>C (p.Thr3692=)
c.11151A>C (p.Thr3717=)
c.11148A>C (p.Thr3716=)
c.11073A>C (p.Thr3691=)
c.10773A>C (p.Thr3591=)
c.8037A>C (p.Thr2679=)
c.6930A>C (p.Thr2310=)
c.10956A>C (p.Thr3652=)
c.6708A>C (p.Thr2236=)
c.9936A>C (p.Thr3312=)
8g.99861807A>GCA462338046VPS13Bc.*245A>G (n.*245A>G)
n.11221A>G
c.*6833A>G (n.*6833A>G)
c.11076A>G (p.Thr3692=)
c.11151A>G (p.Thr3717=)
c.11148A>G (p.Thr3716=)
c.11073A>G (p.Thr3691=)
c.10773A>G (p.Thr3591=)
c.8037A>G (p.Thr2679=)
c.6930A>G (p.Thr2310=)
c.10956A>G (p.Thr3652=)
c.6708A>G (p.Thr2236=)
c.9936A>G (p.Thr3312=)
 ClinVar
8g.99861807A>TCA462338047VPS13Bc.*245A>T (n.*245A>T)
n.11221A>T
c.*6833A>T (n.*6833A>T)
c.11076A>T (p.Thr3692=)
c.11151A>T (p.Thr3717=)
c.11148A>T (p.Thr3716=)
c.11073A>T (p.Thr3691=)
c.10773A>T (p.Thr3591=)
c.8037A>T (p.Thr2679=)
c.6930A>T (p.Thr2310=)
c.10956A>T (p.Thr3652=)
c.6708A>T (p.Thr2236=)
c.9936A>T (p.Thr3312=)
8g.99861808delCA4825137VPS13Bc.*246del (n.*246del)
n.11222del
c.*6834del (n.*6834del)
c.11077del (p.Ser3693AlafsTer?)
c.11152del (p.Ser3718AlafsTer?)
c.11149del (p.Ser3717AlafsTer?)
c.11074del (p.Ser3692AlafsTer?)
c.10774del (p.Ser3592AlafsTer?)
c.8038del (p.Ser2680AlafsTer?)
c.6931del (p.Ser2311AlafsTer?)
c.10957del (p.Ser3653AlafsTer?)
c.6709del (p.Ser2237AlafsTer?)
c.9937del (p.Ser3313AlafsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99861808A>CCA371790306VPS13Bc.*246A>C (n.*246A>C)
n.11222A>C
c.*6834A>C (n.*6834A>C)
c.11077A>C (p.Ser3693Arg)
c.11152A>C (p.Ser3718Arg)
c.11149A>C (p.Ser3717Arg)
c.11074A>C (p.Ser3692Arg)
c.10774A>C (p.Ser3592Arg)
c.8038A>C (p.Ser2680Arg)
c.6931A>C (p.Ser2311Arg)
c.10957A>C (p.Ser3653Arg)
c.6709A>C (p.Ser2237Arg)
c.9937A>C (p.Ser3313Arg)
8g.99861808A>GCA371790308VPS13Bc.*246A>G (n.*246A>G)
n.11222A>G
c.*6834A>G (n.*6834A>G)
c.11077A>G (p.Ser3693Gly)
c.11152A>G (p.Ser3718Gly)
c.11149A>G (p.Ser3717Gly)
c.11074A>G (p.Ser3692Gly)
c.10774A>G (p.Ser3592Gly)
c.8038A>G (p.Ser2680Gly)
c.6931A>G (p.Ser2311Gly)
c.10957A>G (p.Ser3653Gly)
c.6709A>G (p.Ser2237Gly)
c.9937A>G (p.Ser3313Gly)
 gnomAD v4
8g.99861808A>TCA182321336VPS13Bc.*246A>T (n.*246A>T)
n.11222A>T
c.*6834A>T (n.*6834A>T)
c.11077A>T (p.Ser3693Cys)
c.11152A>T (p.Ser3718Cys)
c.11149A>T (p.Ser3717Cys)
c.11074A>T (p.Ser3692Cys)
c.10774A>T (p.Ser3592Cys)
c.8038A>T (p.Ser2680Cys)
c.6931A>T (p.Ser2311Cys)
c.10957A>T (p.Ser3653Cys)
c.6709A>T (p.Ser2237Cys)
c.9937A>T (p.Ser3313Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99861809G>ACA371790312VPS13Bc.*247G>A (n.*247G>A)
n.11223G>A
c.*6835G>A (n.*6835G>A)
c.11078G>A (p.Ser3693Asn)
c.11153G>A (p.Ser3718Asn)
c.11150G>A (p.Ser3717Asn)
c.11075G>A (p.Ser3692Asn)
c.10775G>A (p.Ser3592Asn)
c.8039G>A (p.Ser2680Asn)
c.6932G>A (p.Ser2311Asn)
c.10958G>A (p.Ser3653Asn)
c.6710G>A (p.Ser2237Asn)
c.9938G>A (p.Ser3313Asn)
8g.99861809G>CCA223348VPS13Bc.*247G>C (n.*247G>C)
n.11223G>C
c.*6835G>C (n.*6835G>C)
c.11078G>C (p.Ser3693Thr)
c.11153G>C (p.Ser3718Thr)
c.11150G>C (p.Ser3717Thr)
c.11075G>C (p.Ser3692Thr)
c.10775G>C (p.Ser3592Thr)
c.8039G>C (p.Ser2680Thr)
c.6932G>C (p.Ser2311Thr)
c.10958G>C (p.Ser3653Thr)
c.6710G>C (p.Ser2237Thr)
c.9938G>C (p.Ser3313Thr)
 ClinVar dbSNP gnomAD v4
8g.99861809G>TCA371790315VPS13Bc.*247G>T (n.*247G>T)
n.11223G>T
c.*6835G>T (n.*6835G>T)
c.11078G>T (p.Ser3693Ile)
c.11153G>T (p.Ser3718Ile)
c.11150G>T (p.Ser3717Ile)
c.11075G>T (p.Ser3692Ile)
c.10775G>T (p.Ser3592Ile)
c.8039G>T (p.Ser2680Ile)
c.6932G>T (p.Ser2311Ile)
c.10958G>T (p.Ser3653Ile)
c.6710G>T (p.Ser2237Ile)
c.9938G>T (p.Ser3313Ile)
 gnomAD v4
8g.99861810C>ACA371790318VPS13Bc.*248C>A (n.*248C>A)
n.11224C>A
c.*6836C>A (n.*6836C>A)
c.11079C>A (p.Ser3693Arg)
c.11154C>A (p.Ser3718Arg)
c.11151C>A (p.Ser3717Arg)
c.11076C>A (p.Ser3692Arg)
c.10776C>A (p.Ser3592Arg)
c.8040C>A (p.Ser2680Arg)
c.6933C>A (p.Ser2311Arg)
c.10959C>A (p.Ser3653Arg)
c.6711C>A (p.Ser2237Arg)
c.9939C>A (p.Ser3313Arg)
 gnomAD v4
8g.99861810C>GCA371790321VPS13Bc.*248C>G (n.*248C>G)
n.11224C>G
c.*6836C>G (n.*6836C>G)
c.11079C>G (p.Ser3693Arg)
c.11154C>G (p.Ser3718Arg)
c.11151C>G (p.Ser3717Arg)
c.11076C>G (p.Ser3692Arg)
c.10776C>G (p.Ser3592Arg)
c.8040C>G (p.Ser2680Arg)
c.6933C>G (p.Ser2311Arg)
c.10959C>G (p.Ser3653Arg)
c.6711C>G (p.Ser2237Arg)
c.9939C>G (p.Ser3313Arg)
 gnomAD v4
8g.99861810C>TCA4825138VPS13Bc.*248C>T (n.*248C>T)
n.11224C>T
c.*6836C>T (n.*6836C>T)
c.11079C>T (p.Ser3693=)
c.11154C>T (p.Ser3718=)
c.11151C>T (p.Ser3717=)
c.11076C>T (p.Ser3692=)
c.10776C>T (p.Ser3592=)
c.8040C>T (p.Ser2680=)
c.6933C>T (p.Ser2311=)
c.10959C>T (p.Ser3653=)
c.6711C>T (p.Ser2237=)
c.9939C>T (p.Ser3313=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99861811delCA583861169VPS13Bc.*249del (n.*249del)
n.11225del
c.*6837del (n.*6837del)
c.11080del (p.Leu3694TrpfsTer?)
c.11155del (p.Leu3719TrpfsTer?)
c.11152del (p.Leu3718TrpfsTer?)
c.11077del (p.Leu3693TrpfsTer?)
c.10777del (p.Leu3593TrpfsTer?)
c.8041del (p.Leu2681TrpfsTer?)
c.6934del (p.Leu2312TrpfsTer?)
c.10960del (p.Leu3654TrpfsTer?)
c.6712del (p.Leu2238TrpfsTer?)
c.9940del (p.Leu3314TrpfsTer?)
 dbSNP gnomAD v2 gnomAD v4
8g.99861811C>ACA371790324VPS13Bc.*249C>A (n.*249C>A)
n.11225C>A
c.*6837C>A (n.*6837C>A)
c.11080C>A (p.Leu3694Met)
c.11155C>A (p.Leu3719Met)
c.11152C>A (p.Leu3718Met)
c.11077C>A (p.Leu3693Met)
c.10777C>A (p.Leu3593Met)
c.8041C>A (p.Leu2681Met)
c.6934C>A (p.Leu2312Met)
c.10960C>A (p.Leu3654Met)
c.6712C>A (p.Leu2238Met)
c.9940C>A (p.Leu3314Met)
8g.99861811C>GCA371790326VPS13Bc.*249C>G (n.*249C>G)
n.11225C>G
c.*6837C>G (n.*6837C>G)
c.11080C>G (p.Leu3694Val)
c.11155C>G (p.Leu3719Val)
c.11152C>G (p.Leu3718Val)
c.11077C>G (p.Leu3693Val)
c.10777C>G (p.Leu3593Val)
c.8041C>G (p.Leu2681Val)
c.6934C>G (p.Leu2312Val)
c.10960C>G (p.Leu3654Val)
c.6712C>G (p.Leu2238Val)
c.9940C>G (p.Leu3314Val)
8g.99861811C>TCA462338048VPS13Bc.*249C>T (n.*249C>T)
n.11225C>T
c.*6837C>T (n.*6837C>T)
c.11080C>T (p.Leu3694=)
c.11155C>T (p.Leu3719=)
c.11152C>T (p.Leu3718=)
c.11077C>T (p.Leu3693=)
c.10777C>T (p.Leu3593=)
c.8041C>T (p.Leu2681=)
c.6934C>T (p.Leu2312=)
c.10960C>T (p.Leu3654=)
c.6712C>T (p.Leu2238=)
c.9940C>T (p.Leu3314=)
8g.99861812delCA2781481067VPS13Bc.*250del (n.*250del)
n.11226del
c.*6838del (n.*6838del)
c.11081del (p.Leu3694ArgfsTer?)
c.11156del (p.Leu3719ArgfsTer?)
c.11153del (p.Leu3718ArgfsTer?)
c.11078del (p.Leu3693ArgfsTer?)
c.10778del (p.Leu3593ArgfsTer?)
c.8042del (p.Leu2681ArgfsTer?)
c.6935del (p.Leu2312ArgfsTer?)
c.10961del (p.Leu3654ArgfsTer?)
c.6713del (p.Leu2238ArgfsTer?)
c.9941del (p.Leu3314ArgfsTer?)
8g.99861812T>ACA371790328VPS13Bc.*250T>A (n.*250T>A)
n.11226T>A
c.*6838T>A (n.*6838T>A)
c.11081T>A (p.Leu3694Gln)
c.11156T>A (p.Leu3719Gln)
c.11153T>A (p.Leu3718Gln)
c.11078T>A (p.Leu3693Gln)
c.10778T>A (p.Leu3593Gln)
c.8042T>A (p.Leu2681Gln)
c.6935T>A (p.Leu2312Gln)
c.10961T>A (p.Leu3654Gln)
c.6713T>A (p.Leu2238Gln)
c.9941T>A (p.Leu3314Gln)
8g.99861812T>CCA371790330VPS13Bc.*250T>C (n.*250T>C)
n.11226T>C
c.*6838T>C (n.*6838T>C)
c.11081T>C (p.Leu3694Pro)
c.11156T>C (p.Leu3719Pro)
c.11153T>C (p.Leu3718Pro)
c.11078T>C (p.Leu3693Pro)
c.10778T>C (p.Leu3593Pro)
c.8042T>C (p.Leu2681Pro)
c.6935T>C (p.Leu2312Pro)
c.10961T>C (p.Leu3654Pro)
c.6713T>C (p.Leu2238Pro)
c.9941T>C (p.Leu3314Pro)
8g.99861812T>GCA371790332VPS13Bc.*250T>G (n.*250T>G)
n.11226T>G
c.*6838T>G (n.*6838T>G)
c.11081T>G (p.Leu3694Arg)
c.11156T>G (p.Leu3719Arg)
c.11153T>G (p.Leu3718Arg)
c.11078T>G (p.Leu3693Arg)
c.10778T>G (p.Leu3593Arg)
c.8042T>G (p.Leu2681Arg)
c.6935T>G (p.Leu2312Arg)
c.10961T>G (p.Leu3654Arg)
c.6713T>G (p.Leu2238Arg)
c.9941T>G (p.Leu3314Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99861813G>ACA462338049VPS13Bc.*251G>A (n.*251G>A)
n.11227G>A
c.*6839G>A (n.*6839G>A)
c.11082G>A (p.Leu3694=)
c.11157G>A (p.Leu3719=)
c.11154G>A (p.Leu3718=)
c.11079G>A (p.Leu3693=)
c.10779G>A (p.Leu3593=)
c.8043G>A (p.Leu2681=)
c.6936G>A (p.Leu2312=)
c.10962G>A (p.Leu3654=)
c.6714G>A (p.Leu2238=)
c.9942G>A (p.Leu3314=)
8g.99861813G>CCA462338050VPS13Bc.*251G>C (n.*251G>C)
n.11227G>C
c.*6839G>C (n.*6839G>C)
c.11082G>C (p.Leu3694=)
c.11157G>C (p.Leu3719=)
c.11154G>C (p.Leu3718=)
c.11079G>C (p.Leu3693=)
c.10779G>C (p.Leu3593=)
c.8043G>C (p.Leu2681=)
c.6936G>C (p.Leu2312=)
c.10962G>C (p.Leu3654=)
c.6714G>C (p.Leu2238=)
c.9942G>C (p.Leu3314=)
 ClinVar
8g.99861813G>TCA462338051VPS13Bc.*251G>T (n.*251G>T)
n.11227G>T
c.*6839G>T (n.*6839G>T)
c.11082G>T (p.Leu3694=)
c.11157G>T (p.Leu3719=)
c.11154G>T (p.Leu3718=)
c.11079G>T (p.Leu3693=)
c.10779G>T (p.Leu3593=)
c.8043G>T (p.Leu2681=)
c.6936G>T (p.Leu2312=)
c.10962G>T (p.Leu3654=)
c.6714G>T (p.Leu2238=)
c.9942G>T (p.Leu3314=)
8g.99861814delCA4825139VPS13Bc.*252del (n.*252del)
n.11228del
c.*6840del (n.*6840del)
c.11083del (p.Ala3695ProfsTer?)
c.11158del (p.Ala3720ProfsTer?)
c.11155del (p.Ala3719ProfsTer?)
c.11080del (p.Ala3694ProfsTer?)
c.10780del (p.Ala3594ProfsTer?)
c.8044del (p.Ala2682ProfsTer?)
c.6937del (p.Ala2313ProfsTer?)
c.10963del (p.Ala3655ProfsTer?)
c.6715del (p.Ala2239ProfsTer?)
c.9943del (p.Ala3315ProfsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99861814G>ACA182321372VPS13Bc.*252G>A (n.*252G>A)
n.11228G>A
c.*6840G>A (n.*6840G>A)
c.11083G>A (p.Ala3695Thr)
c.11158G>A (p.Ala3720Thr)
c.11155G>A (p.Ala3719Thr)
c.11080G>A (p.Ala3694Thr)
c.10780G>A (p.Ala3594Thr)
c.8044G>A (p.Ala2682Thr)
c.6937G>A (p.Ala2313Thr)
c.10963G>A (p.Ala3655Thr)
c.6715G>A (p.Ala2239Thr)
c.9943G>A (p.Ala3315Thr)
 dbSNP gnomAD v2 gnomAD v4
8g.99861814G>CCA371790335VPS13Bc.*252G>C (n.*252G>C)
n.11228G>C
c.*6840G>C (n.*6840G>C)
c.11083G>C (p.Ala3695Pro)
c.11158G>C (p.Ala3720Pro)
c.11155G>C (p.Ala3719Pro)
c.11080G>C (p.Ala3694Pro)
c.10780G>C (p.Ala3594Pro)
c.8044G>C (p.Ala2682Pro)
c.6937G>C (p.Ala2313Pro)
c.10963G>C (p.Ala3655Pro)
c.6715G>C (p.Ala2239Pro)
c.9943G>C (p.Ala3315Pro)
8g.99861814G>TCA371790338VPS13Bc.*252G>T (n.*252G>T)
n.11228G>T
c.*6840G>T (n.*6840G>T)
c.11083G>T (p.Ala3695Ser)
c.11158G>T (p.Ala3720Ser)
c.11155G>T (p.Ala3719Ser)
c.11080G>T (p.Ala3694Ser)
c.10780G>T (p.Ala3594Ser)
c.8044G>T (p.Ala2682Ser)
c.6937G>T (p.Ala2313Ser)
c.10963G>T (p.Ala3655Ser)
c.6715G>T (p.Ala2239Ser)
c.9943G>T (p.Ala3315Ser)
 gnomAD v4
8g.99861815C>ACA371790340VPS13Bc.*253C>A (n.*253C>A)
n.11229C>A
c.*6841C>A (n.*6841C>A)
c.11084C>A (p.Ala3695Asp)
c.11159C>A (p.Ala3720Asp)
c.11156C>A (p.Ala3719Asp)
c.11081C>A (p.Ala3694Asp)
c.10781C>A (p.Ala3594Asp)
c.8045C>A (p.Ala2682Asp)
c.6938C>A (p.Ala2313Asp)
c.10964C>A (p.Ala3655Asp)
c.6716C>A (p.Ala2239Asp)
c.9944C>A (p.Ala3315Asp)
 gnomAD v4
8g.99861815C>GCA371790343VPS13Bc.*253C>G (n.*253C>G)
n.11229C>G
c.*6841C>G (n.*6841C>G)
c.11084C>G (p.Ala3695Gly)
c.11159C>G (p.Ala3720Gly)
c.11156C>G (p.Ala3719Gly)
c.11081C>G (p.Ala3694Gly)
c.10781C>G (p.Ala3594Gly)
c.8045C>G (p.Ala2682Gly)
c.6938C>G (p.Ala2313Gly)
c.10964C>G (p.Ala3655Gly)
c.6716C>G (p.Ala2239Gly)
c.9944C>G (p.Ala3315Gly)
 gnomAD v4
8g.99861815C>TCA371790342VPS13Bc.*253C>T (n.*253C>T)
n.11229C>T
c.*6841C>T (n.*6841C>T)
c.11084C>T (p.Ala3695Val)
c.11159C>T (p.Ala3720Val)
c.11156C>T (p.Ala3719Val)
c.11081C>T (p.Ala3694Val)
c.10781C>T (p.Ala3594Val)
c.8045C>T (p.Ala2682Val)
c.6938C>T (p.Ala2313Val)
c.10964C>T (p.Ala3655Val)
c.6716C>T (p.Ala2239Val)
c.9944C>T (p.Ala3315Val)
 gnomAD v4
8g.99861816C>ACA462338052VPS13Bc.*254C>A (n.*254C>A)
n.11230C>A
c.*6842C>A (n.*6842C>A)
c.11085C>A (p.Ala3695=)
c.11160C>A (p.Ala3720=)
c.11157C>A (p.Ala3719=)
c.11082C>A (p.Ala3694=)
c.10782C>A (p.Ala3594=)
c.8046C>A (p.Ala2682=)
c.6939C>A (p.Ala2313=)
c.10965C>A (p.Ala3655=)
c.6717C>A (p.Ala2239=)
c.9945C>A (p.Ala3315=)
 gnomAD v4
8g.99861816C>GCA462338053VPS13Bc.*254C>G (n.*254C>G)
n.11230C>G
c.*6842C>G (n.*6842C>G)
c.11085C>G (p.Ala3695=)
c.11160C>G (p.Ala3720=)
c.11157C>G (p.Ala3719=)
c.11082C>G (p.Ala3694=)
c.10782C>G (p.Ala3594=)
c.8046C>G (p.Ala2682=)
c.6939C>G (p.Ala2313=)
c.10965C>G (p.Ala3655=)
c.6717C>G (p.Ala2239=)
c.9945C>G (p.Ala3315=)
 gnomAD v4
8g.99861816C>TCA462338054VPS13Bc.*254C>T (n.*254C>T)
n.11230C>T
c.*6842C>T (n.*6842C>T)
c.11085C>T (p.Ala3695=)
c.11160C>T (p.Ala3720=)
c.11157C>T (p.Ala3719=)
c.11082C>T (p.Ala3694=)
c.10782C>T (p.Ala3594=)
c.8046C>T (p.Ala2682=)
c.6939C>T (p.Ala2313=)
c.10965C>T (p.Ala3655=)
c.6717C>T (p.Ala2239=)
c.9945C>T (p.Ala3315=)
8g.99861817C>ACA462338055VPS13Bc.*255C>A (n.*255C>A)
n.11231C>A
c.*6843C>A (n.*6843C>A)
c.11086C>A (p.Arg3696=)
c.11161C>A (p.Arg3721=)
c.11158C>A (p.Arg3720=)
c.11083C>A (p.Arg3695=)
c.10783C>A (p.Arg3595=)
c.8047C>A (p.Arg2683=)
c.6940C>A (p.Arg2314=)
c.10966C>A (p.Arg3656=)
c.6718C>A (p.Arg2240=)
c.9946C>A (p.Arg3316=)
 gnomAD v4
8g.99861817C>GCA371790345VPS13Bc.*255C>G (n.*255C>G)
n.11231C>G
c.*6843C>G (n.*6843C>G)
c.11086C>G (p.Arg3696Gly)
c.11161C>G (p.Arg3721Gly)
c.11158C>G (p.Arg3720Gly)
c.11083C>G (p.Arg3695Gly)
c.10783C>G (p.Arg3595Gly)
c.8047C>G (p.Arg2683Gly)
c.6940C>G (p.Arg2314Gly)
c.10966C>G (p.Arg3656Gly)
c.6718C>G (p.Arg2240Gly)
c.9946C>G (p.Arg3316Gly)
8g.99861817C>TCA4825140VPS13Bc.*255C>T (n.*255C>T)
n.11231C>T
c.*6843C>T (n.*6843C>T)
c.11086C>T (p.Arg3696Trp)
c.11161C>T (p.Arg3721Trp)
c.11158C>T (p.Arg3720Trp)
c.11083C>T (p.Arg3695Trp)
c.10783C>T (p.Arg3595Trp)
c.8047C>T (p.Arg2683Trp)
c.6940C>T (p.Arg2314Trp)
c.10966C>T (p.Arg3656Trp)
c.6718C>T (p.Arg2240Trp)
c.9946C>T (p.Arg3316Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99861818G>ACA4825141VPS13Bc.*256G>A (n.*256G>A)
n.11232G>A
c.*6844G>A (n.*6844G>A)
c.11087G>A (p.Arg3696Gln)
c.11162G>A (p.Arg3721Gln)
c.11159G>A (p.Arg3720Gln)
c.11084G>A (p.Arg3695Gln)
c.10784G>A (p.Arg3595Gln)
c.8048G>A (p.Arg2683Gln)
c.6941G>A (p.Arg2314Gln)
c.10967G>A (p.Arg3656Gln)
c.6719G>A (p.Arg2240Gln)
c.9947G>A (p.Arg3316Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99861818G>CCA371790351VPS13Bc.*256G>C (n.*256G>C)
n.11232G>C
c.*6844G>C (n.*6844G>C)
c.11087G>C (p.Arg3696Pro)
c.11162G>C (p.Arg3721Pro)
c.11159G>C (p.Arg3720Pro)
c.11084G>C (p.Arg3695Pro)
c.10784G>C (p.Arg3595Pro)
c.8048G>C (p.Arg2683Pro)
c.6941G>C (p.Arg2314Pro)
c.10967G>C (p.Arg3656Pro)
c.6719G>C (p.Arg2240Pro)
c.9947G>C (p.Arg3316Pro)
8g.99861818G>TCA371790352VPS13Bc.*256G>T (n.*256G>T)
n.11232G>T
c.*6844G>T (n.*6844G>T)
c.11087G>T (p.Arg3696Leu)
c.11162G>T (p.Arg3721Leu)
c.11159G>T (p.Arg3720Leu)
c.11084G>T (p.Arg3695Leu)
c.10784G>T (p.Arg3595Leu)
c.8048G>T (p.Arg2683Leu)
c.6941G>T (p.Arg2314Leu)
c.10967G>T (p.Arg3656Leu)
c.6719G>T (p.Arg2240Leu)
c.9947G>T (p.Arg3316Leu)
 gnomAD v4
8g.99861819G>ACA462338056VPS13Bc.*257G>A (n.*257G>A)
n.11233G>A
c.*6845G>A (n.*6845G>A)
c.11088G>A (p.Arg3696=)
c.11163G>A (p.Arg3721=)
c.11160G>A (p.Arg3720=)
c.11085G>A (p.Arg3695=)
c.10785G>A (p.Arg3595=)
c.8049G>A (p.Arg2683=)
c.6942G>A (p.Arg2314=)
c.10968G>A (p.Arg3656=)
c.6720G>A (p.Arg2240=)
c.9948G>A (p.Arg3316=)
 gnomAD v4
8g.99861819G>CCA462338057VPS13Bc.*257G>C (n.*257G>C)
n.11233G>C
c.*6845G>C (n.*6845G>C)
c.11088G>C (p.Arg3696=)
c.11163G>C (p.Arg3721=)
c.11160G>C (p.Arg3720=)
c.11085G>C (p.Arg3695=)
c.10785G>C (p.Arg3595=)
c.8049G>C (p.Arg2683=)
c.6942G>C (p.Arg2314=)
c.10968G>C (p.Arg3656=)
c.6720G>C (p.Arg2240=)
c.9948G>C (p.Arg3316=)
8g.99861819G>TCA462338058VPS13Bc.*257G>T (n.*257G>T)
n.11233G>T
c.*6845G>T (n.*6845G>T)
c.11088G>T (p.Arg3696=)
c.11163G>T (p.Arg3721=)
c.11160G>T (p.Arg3720=)
c.11085G>T (p.Arg3695=)
c.10785G>T (p.Arg3595=)
c.8049G>T (p.Arg2683=)
c.6942G>T (p.Arg2314=)
c.10968G>T (p.Arg3656=)
c.6720G>T (p.Arg2240=)
c.9948G>T (p.Arg3316=)
 gnomAD v4 COSMIC COSMIC
8g.99861820A>CCA371790354VPS13Bc.*258A>C (n.*258A>C)
n.11234A>C
c.*6846A>C (n.*6846A>C)
c.11089A>C (p.Asn3697His)
c.11164A>C (p.Asn3722His)
c.11161A>C (p.Asn3721His)
c.11086A>C (p.Asn3696His)
c.10786A>C (p.Asn3596His)
c.8050A>C (p.Asn2684His)
c.6943A>C (p.Asn2315His)
c.10969A>C (p.Asn3657His)
c.6721A>C (p.Asn2241His)
c.9949A>C (p.Asn3317His)
8g.99861820A>GCA371790356VPS13Bc.*258A>G (n.*258A>G)
n.11234A>G
c.*6846A>G (n.*6846A>G)
c.11089A>G (p.Asn3697Asp)
c.11164A>G (p.Asn3722Asp)
c.11161A>G (p.Asn3721Asp)
c.11086A>G (p.Asn3696Asp)
c.10786A>G (p.Asn3596Asp)
c.8050A>G (p.Asn2684Asp)
c.6943A>G (p.Asn2315Asp)
c.10969A>G (p.Asn3657Asp)
c.6721A>G (p.Asn2241Asp)
c.9949A>G (p.Asn3317Asp)
8g.99861820A>TCA371790359VPS13Bc.*258A>T (n.*258A>T)
n.11234A>T
c.*6846A>T (n.*6846A>T)
c.11089A>T (p.Asn3697Tyr)
c.11164A>T (p.Asn3722Tyr)
c.11161A>T (p.Asn3721Tyr)
c.11086A>T (p.Asn3696Tyr)
c.10786A>T (p.Asn3596Tyr)
c.8050A>T (p.Asn2684Tyr)
c.6943A>T (p.Asn2315Tyr)
c.10969A>T (p.Asn3657Tyr)
c.6721A>T (p.Asn2241Tyr)
c.9949A>T (p.Asn3317Tyr)
8g.99861821A>CCA371790360VPS13Bc.*259A>C (n.*259A>C)
n.11235A>C
c.*6847A>C (n.*6847A>C)
c.11090A>C (p.Asn3697Thr)
c.11165A>C (p.Asn3722Thr)
c.11162A>C (p.Asn3721Thr)
c.11087A>C (p.Asn3696Thr)
c.10787A>C (p.Asn3596Thr)
c.8051A>C (p.Asn2684Thr)
c.6944A>C (p.Asn2315Thr)
c.10970A>C (p.Asn3657Thr)
c.6722A>C (p.Asn2241Thr)
c.9950A>C (p.Asn3317Thr)
8g.99861821A>GCA371790362VPS13Bc.*259A>G (n.*259A>G)
n.11235A>G
c.*6847A>G (n.*6847A>G)
c.11090A>G (p.Asn3697Ser)
c.11165A>G (p.Asn3722Ser)
c.11162A>G (p.Asn3721Ser)
c.11087A>G (p.Asn3696Ser)
c.10787A>G (p.Asn3596Ser)
c.8051A>G (p.Asn2684Ser)
c.6944A>G (p.Asn2315Ser)
c.10970A>G (p.Asn3657Ser)
c.6722A>G (p.Asn2241Ser)
c.9950A>G (p.Asn3317Ser)
 gnomAD v4
8g.99861821A>TCA371790364VPS13Bc.*259A>T (n.*259A>T)
n.11235A>T
c.*6847A>T (n.*6847A>T)
c.11090A>T (p.Asn3697Ile)
c.11165A>T (p.Asn3722Ile)
c.11162A>T (p.Asn3721Ile)
c.11087A>T (p.Asn3696Ile)
c.10787A>T (p.Asn3596Ile)
c.8051A>T (p.Asn2684Ile)
c.6944A>T (p.Asn2315Ile)
c.10970A>T (p.Asn3657Ile)
c.6722A>T (p.Asn2241Ile)
c.9950A>T (p.Asn3317Ile)
8g.99861822C>ACA371790367VPS13Bc.*260C>A (n.*260C>A)
n.11236C>A
c.*6848C>A (n.*6848C>A)
c.11091C>A (p.Asn3697Lys)
c.11166C>A (p.Asn3722Lys)
c.11163C>A (p.Asn3721Lys)
c.11088C>A (p.Asn3696Lys)
c.10788C>A (p.Asn3596Lys)
c.8052C>A (p.Asn2684Lys)
c.6945C>A (p.Asn2315Lys)
c.10971C>A (p.Asn3657Lys)
c.6723C>A (p.Asn2241Lys)
c.9951C>A (p.Asn3317Lys)
 gnomAD v4
8g.99861822C>GCA371790368VPS13Bc.*260C>G (n.*260C>G)
n.11236C>G
c.*6848C>G (n.*6848C>G)
c.11091C>G (p.Asn3697Lys)
c.11166C>G (p.Asn3722Lys)
c.11163C>G (p.Asn3721Lys)
c.11088C>G (p.Asn3696Lys)
c.10788C>G (p.Asn3596Lys)
c.8052C>G (p.Asn2684Lys)
c.6945C>G (p.Asn2315Lys)
c.10971C>G (p.Asn3657Lys)
c.6723C>G (p.Asn2241Lys)
c.9951C>G (p.Asn3317Lys)
8g.99861822C>TCA462338059VPS13Bc.*260C>T (n.*260C>T)
n.11236C>T
c.*6848C>T (n.*6848C>T)
c.11091C>T (p.Asn3697=)
c.11166C>T (p.Asn3722=)
c.11163C>T (p.Asn3721=)
c.11088C>T (p.Asn3696=)
c.10788C>T (p.Asn3596=)
c.8052C>T (p.Asn2684=)
c.6945C>T (p.Asn2315=)
c.10971C>T (p.Asn3657=)
c.6723C>T (p.Asn2241=)
c.9951C>T (p.Asn3317=)
8g.99861823A>CCA371790371VPS13Bc.*261A>C (n.*261A>C)
n.11237A>C
c.*6849A>C (n.*6849A>C)
c.11092A>C (p.Met3698Leu)
c.11167A>C (p.Met3723Leu)
c.11164A>C (p.Met3722Leu)
c.11089A>C (p.Met3697Leu)
c.10789A>C (p.Met3597Leu)
c.8053A>C (p.Met2685Leu)
c.6946A>C (p.Met2316Leu)
c.10972A>C (p.Met3658Leu)
c.6724A>C (p.Met2242Leu)
c.9952A>C (p.Met3318Leu)
8g.99861823A>GCA371790375VPS13Bc.*261A>G (n.*261A>G)
n.11237A>G
c.*6849A>G (n.*6849A>G)
c.11092A>G (p.Met3698Val)
c.11167A>G (p.Met3723Val)
c.11164A>G (p.Met3722Val)
c.11089A>G (p.Met3697Val)
c.10789A>G (p.Met3597Val)
c.8053A>G (p.Met2685Val)
c.6946A>G (p.Met2316Val)
c.10972A>G (p.Met3658Val)
c.6724A>G (p.Met2242Val)
c.9952A>G (p.Met3318Val)
 gnomAD v4
8g.99861823A>TCA371790373VPS13Bc.*261A>T (n.*261A>T)
n.11237A>T
c.*6849A>T (n.*6849A>T)
c.11092A>T (p.Met3698Leu)
c.11167A>T (p.Met3723Leu)
c.11164A>T (p.Met3722Leu)
c.11089A>T (p.Met3697Leu)
c.10789A>T (p.Met3597Leu)
c.8053A>T (p.Met2685Leu)
c.6946A>T (p.Met2316Leu)
c.10972A>T (p.Met3658Leu)
c.6724A>T (p.Met2242Leu)
c.9952A>T (p.Met3318Leu)
8g.99861824T>ACA371790377VPS13Bc.*262T>A (n.*262T>A)
n.11238T>A
c.*6850T>A (n.*6850T>A)
c.11093T>A (p.Met3698Lys)
c.11168T>A (p.Met3723Lys)
c.11165T>A (p.Met3722Lys)
c.11090T>A (p.Met3697Lys)
c.10790T>A (p.Met3597Lys)
c.8054T>A (p.Met2685Lys)
c.6947T>A (p.Met2316Lys)
c.10973T>A (p.Met3658Lys)
c.6725T>A (p.Met2242Lys)
c.9953T>A (p.Met3318Lys)
8g.99861824T>CCA371790378VPS13Bc.*262T>C (n.*262T>C)
n.11238T>C
c.*6850T>C (n.*6850T>C)
c.11093T>C (p.Met3698Thr)
c.11168T>C (p.Met3723Thr)
c.11165T>C (p.Met3722Thr)
c.11090T>C (p.Met3697Thr)
c.10790T>C (p.Met3597Thr)
c.8054T>C (p.Met2685Thr)
c.6947T>C (p.Met2316Thr)
c.10973T>C (p.Met3658Thr)
c.6725T>C (p.Met2242Thr)
c.9953T>C (p.Met3318Thr)
 ClinVar dbSNP gnomAD v4
8g.99861824T>GCA371790380VPS13Bc.*262T>G (n.*262T>G)
n.11238T>G
c.*6850T>G (n.*6850T>G)
c.11093T>G (p.Met3698Arg)
c.11168T>G (p.Met3723Arg)
c.11165T>G (p.Met3722Arg)
c.11090T>G (p.Met3697Arg)
c.10790T>G (p.Met3597Arg)
c.8054T>G (p.Met2685Arg)
c.6947T>G (p.Met2316Arg)
c.10973T>G (p.Met3658Arg)
c.6725T>G (p.Met2242Arg)
c.9953T>G (p.Met3318Arg)
8g.99861825G>ACA371790383VPS13Bc.*263G>A (n.*263G>A)
n.11239G>A
c.*6851G>A (n.*6851G>A)
c.11094G>A (p.Met3698Ile)
c.11169G>A (p.Met3723Ile)
c.11166G>A (p.Met3722Ile)
c.11091G>A (p.Met3697Ile)
c.10791G>A (p.Met3597Ile)
c.8055G>A (p.Met2685Ile)
c.6948G>A (p.Met2316Ile)
c.10974G>A (p.Met3658Ile)
c.6726G>A (p.Met2242Ile)
c.9954G>A (p.Met3318Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.99861825G>CCA371790385VPS13Bc.*263G>C (n.*263G>C)
n.11239G>C
c.*6851G>C (n.*6851G>C)
c.11094G>C (p.Met3698Ile)
c.11169G>C (p.Met3723Ile)
c.11166G>C (p.Met3722Ile)
c.11091G>C (p.Met3697Ile)
c.10791G>C (p.Met3597Ile)
c.8055G>C (p.Met2685Ile)
c.6948G>C (p.Met2316Ile)
c.10974G>C (p.Met3658Ile)
c.6726G>C (p.Met2242Ile)
c.9954G>C (p.Met3318Ile)
8g.99861825G>TCA371790387VPS13Bc.*263G>T (n.*263G>T)
n.11239G>T
c.*6851G>T (n.*6851G>T)
c.11094G>T (p.Met3698Ile)
c.11169G>T (p.Met3723Ile)
c.11166G>T (p.Met3722Ile)
c.11091G>T (p.Met3697Ile)
c.10791G>T (p.Met3597Ile)
c.8055G>T (p.Met2685Ile)
c.6948G>T (p.Met2316Ile)
c.10974G>T (p.Met3658Ile)
c.6726G>T (p.Met2242Ile)
c.9954G>T (p.Met3318Ile)
 gnomAD v4
8g.99861825_99861828dupCA264002VPS13Bc.*263_*266dup (n.*263_*266dup)
n.11239_11242dup
c.*6851_*6854dup (n.*6851_*6854dup)
c.11094_11097dup (p.Arg3700GlyfsTer7)
c.11169_11172dup (p.Arg3725GlyfsTer7)
c.11166_11169dup (p.Arg3724GlyfsTer7)
c.11091_11094dup (p.Arg3699GlyfsTer7)
c.10791_10794dup (p.Arg3599GlyfsTer7)
c.8055_8058dup (p.Arg2687GlyfsTer7)
c.6948_6951dup (p.Arg2318GlyfsTer7)
c.10974_10977dup (p.Arg3660GlyfsTer7)
c.6726_6729dup (p.Arg2244GlyfsTer7)
c.9954_9957dup (p.Arg3320GlyfsTer7)
 ClinVar dbSNP
8g.99861826G>ACA371790390VPS13Bc.*264G>A (n.*264G>A)
n.11240G>A
c.*6852G>A (n.*6852G>A)
c.11095G>A (p.Asp3699Asn)
c.11170G>A (p.Asp3724Asn)
c.11167G>A (p.Asp3723Asn)
c.11092G>A (p.Asp3698Asn)
c.10792G>A (p.Asp3598Asn)
c.8056G>A (p.Asp2686Asn)
c.6949G>A (p.Asp2317Asn)
c.10975G>A (p.Asp3659Asn)
c.6727G>A (p.Asp2243Asn)
c.9955G>A (p.Asp3319Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.99861826G>CCA371790392VPS13Bc.*264G>C (n.*264G>C)
n.11240G>C
c.*6852G>C (n.*6852G>C)
c.11095G>C (p.Asp3699His)
c.11170G>C (p.Asp3724His)
c.11167G>C (p.Asp3723His)
c.11092G>C (p.Asp3698His)
c.10792G>C (p.Asp3598His)
c.8056G>C (p.Asp2686His)
c.6949G>C (p.Asp2317His)
c.10975G>C (p.Asp3659His)
c.6727G>C (p.Asp2243His)
c.9955G>C (p.Asp3319His)
8g.99861826G>TCA371790394VPS13Bc.*264G>T (n.*264G>T)
n.11240G>T
c.*6852G>T (n.*6852G>T)
c.11095G>T (p.Asp3699Tyr)
c.11170G>T (p.Asp3724Tyr)
c.11167G>T (p.Asp3723Tyr)
c.11092G>T (p.Asp3698Tyr)
c.10792G>T (p.Asp3598Tyr)
c.8056G>T (p.Asp2686Tyr)
c.6949G>T (p.Asp2317Tyr)
c.10975G>T (p.Asp3659Tyr)
c.6727G>T (p.Asp2243Tyr)
c.9955G>T (p.Asp3319Tyr)
 gnomAD v4
8g.99861827A>CCA371790401VPS13Bc.*265A>C (n.*265A>C)
n.11241A>C
c.*6853A>C (n.*6853A>C)
c.11096A>C (p.Asp3699Ala)
c.11171A>C (p.Asp3724Ala)
c.11168A>C (p.Asp3723Ala)
c.11093A>C (p.Asp3698Ala)
c.10793A>C (p.Asp3598Ala)
c.8057A>C (p.Asp2686Ala)
c.6950A>C (p.Asp2317Ala)
c.10976A>C (p.Asp3659Ala)
c.6728A>C (p.Asp2243Ala)
c.9956A>C (p.Asp3319Ala)
8g.99861827A>GCA371790398VPS13Bc.*265A>G (n.*265A>G)
n.11241A>G
c.*6853A>G (n.*6853A>G)
c.11096A>G (p.Asp3699Gly)
c.11171A>G (p.Asp3724Gly)
c.11168A>G (p.Asp3723Gly)
c.11093A>G (p.Asp3698Gly)
c.10793A>G (p.Asp3598Gly)
c.8057A>G (p.Asp2686Gly)
c.6950A>G (p.Asp2317Gly)
c.10976A>G (p.Asp3659Gly)
c.6728A>G (p.Asp2243Gly)
c.9956A>G (p.Asp3319Gly)
8g.99861827A>TCA371790396VPS13Bc.*265A>T (n.*265A>T)
n.11241A>T
c.*6853A>T (n.*6853A>T)
c.11096A>T (p.Asp3699Val)
c.11171A>T (p.Asp3724Val)
c.11168A>T (p.Asp3723Val)
c.11093A>T (p.Asp3698Val)
c.10793A>T (p.Asp3598Val)
c.8057A>T (p.Asp2686Val)
c.6950A>T (p.Asp2317Val)
c.10976A>T (p.Asp3659Val)
c.6728A>T (p.Asp2243Val)
c.9956A>T (p.Asp3319Val)
8g.99861828C>ACA371790403VPS13Bc.*266C>A (n.*266C>A)
n.11242C>A
c.*6854C>A (n.*6854C>A)
c.11097C>A (p.Asp3699Glu)
c.11172C>A (p.Asp3724Glu)
c.11169C>A (p.Asp3723Glu)
c.11094C>A (p.Asp3698Glu)
c.10794C>A (p.Asp3598Glu)
c.8058C>A (p.Asp2686Glu)
c.6951C>A (p.Asp2317Glu)
c.10977C>A (p.Asp3659Glu)
c.6729C>A (p.Asp2243Glu)
c.9957C>A (p.Asp3319Glu)
 gnomAD v4
8g.99861828C>GCA371790405VPS13Bc.*266C>G (n.*266C>G)
n.11242C>G
c.*6854C>G (n.*6854C>G)
c.11097C>G (p.Asp3699Glu)
c.11172C>G (p.Asp3724Glu)
c.11169C>G (p.Asp3723Glu)
c.11094C>G (p.Asp3698Glu)
c.10794C>G (p.Asp3598Glu)
c.8058C>G (p.Asp2686Glu)
c.6951C>G (p.Asp2317Glu)
c.10977C>G (p.Asp3659Glu)
c.6729C>G (p.Asp2243Glu)
c.9957C>G (p.Asp3319Glu)
8g.99861828C>TCA462338060VPS13Bc.*266C>T (n.*266C>T)
n.11242C>T
c.*6854C>T (n.*6854C>T)
c.11097C>T (p.Asp3699=)
c.11172C>T (p.Asp3724=)
c.11169C>T (p.Asp3723=)
c.11094C>T (p.Asp3698=)
c.10794C>T (p.Asp3598=)
c.8058C>T (p.Asp2686=)
c.6951C>T (p.Asp2317=)
c.10977C>T (p.Asp3659=)
c.6729C>T (p.Asp2243=)
c.9957C>T (p.Asp3319=)
 ClinVar
8g.99861829delCA4825142VPS13Bc.*267del (n.*267del)
n.11243del
c.*6855del (n.*6855del)
c.11098del (p.Arg3700GlyfsTer?)
c.11173del (p.Arg3725GlyfsTer?)
c.11170del (p.Arg3724GlyfsTer?)
c.11095del (p.Arg3699GlyfsTer?)
c.10795del (p.Arg3599GlyfsTer?)
c.8059del (p.Arg2687GlyfsTer?)
c.6952del (p.Arg2318GlyfsTer?)
c.10978del (p.Arg3660GlyfsTer?)
c.6730del (p.Arg2244GlyfsTer?)
c.9958del (p.Arg3320GlyfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99861829C>ACA462338061VPS13Bc.*267C>A (n.*267C>A)
n.11243C>A
c.*6855C>A (n.*6855C>A)
c.11098C>A (p.Arg3700=)
c.11173C>A (p.Arg3725=)
c.11170C>A (p.Arg3724=)
c.11095C>A (p.Arg3699=)
c.10795C>A (p.Arg3599=)
c.8059C>A (p.Arg2687=)
c.6952C>A (p.Arg2318=)
c.10978C>A (p.Arg3660=)
c.6730C>A (p.Arg2244=)
c.9958C>A (p.Arg3320=)
 gnomAD v4
8g.99861829C>GCA371790409VPS13Bc.*267C>G (n.*267C>G)
n.11243C>G
c.*6855C>G (n.*6855C>G)
c.11098C>G (p.Arg3700Gly)
c.11173C>G (p.Arg3725Gly)
c.11170C>G (p.Arg3724Gly)
c.11095C>G (p.Arg3699Gly)
c.10795C>G (p.Arg3599Gly)
c.8059C>G (p.Arg2687Gly)
c.6952C>G (p.Arg2318Gly)
c.10978C>G (p.Arg3660Gly)
c.6730C>G (p.Arg2244Gly)
c.9958C>G (p.Arg3320Gly)
8g.99861829C>TCA4825143VPS13Bc.*267C>T (n.*267C>T)
n.11243C>T
c.*6855C>T (n.*6855C>T)
c.11098C>T (p.Arg3700Trp)
c.11173C>T (p.Arg3725Trp)
c.11170C>T (p.Arg3724Trp)
c.11095C>T (p.Arg3699Trp)
c.10795C>T (p.Arg3599Trp)
c.8059C>T (p.Arg2687Trp)
c.6952C>T (p.Arg2318Trp)
c.10978C>T (p.Arg3660Trp)
c.6730C>T (p.Arg2244Trp)
c.9958C>T (p.Arg3320Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99861830G>ACA4825144VPS13Bc.*268G>A (n.*268G>A)
n.11244G>A
c.*6856G>A (n.*6856G>A)
c.11099G>A (p.Arg3700Gln)
c.11174G>A (p.Arg3725Gln)
c.11171G>A (p.Arg3724Gln)
c.11096G>A (p.Arg3699Gln)
c.10796G>A (p.Arg3599Gln)
c.8060G>A (p.Arg2687Gln)
c.6953G>A (p.Arg2318Gln)
c.10979G>A (p.Arg3660Gln)
c.6731G>A (p.Arg2244Gln)
c.9959G>A (p.Arg3320Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
8g.99861830G>CCA371790413VPS13Bc.*268G>C (n.*268G>C)
n.11244G>C
c.*6856G>C (n.*6856G>C)
c.11099G>C (p.Arg3700Pro)
c.11174G>C (p.Arg3725Pro)
c.11171G>C (p.Arg3724Pro)
c.11096G>C (p.Arg3699Pro)
c.10796G>C (p.Arg3599Pro)
c.8060G>C (p.Arg2687Pro)
c.6953G>C (p.Arg2318Pro)
c.10979G>C (p.Arg3660Pro)
c.6731G>C (p.Arg2244Pro)
c.9959G>C (p.Arg3320Pro)
8g.99861830G>TCA371790411VPS13Bc.*268G>T (n.*268G>T)
n.11244G>T
c.*6856G>T (n.*6856G>T)
c.11099G>T (p.Arg3700Leu)
c.11174G>T (p.Arg3725Leu)
c.11171G>T (p.Arg3724Leu)
c.11096G>T (p.Arg3699Leu)
c.10796G>T (p.Arg3599Leu)
c.8060G>T (p.Arg2687Leu)
c.6953G>T (p.Arg2318Leu)
c.10979G>T (p.Arg3660Leu)
c.6731G>T (p.Arg2244Leu)
c.9959G>T (p.Arg3320Leu)
 ClinVar dbSNP gnomAD v4
8g.99861831G>ACA462338062VPS13Bc.*269G>A (n.*269G>A)
n.11245G>A
c.*6857G>A (n.*6857G>A)
c.11100G>A (p.Arg3700=)
c.11175G>A (p.Arg3725=)
c.11172G>A (p.Arg3724=)
c.11097G>A (p.Arg3699=)
c.10797G>A (p.Arg3599=)
c.8061G>A (p.Arg2687=)
c.6954G>A (p.Arg2318=)
c.10980G>A (p.Arg3660=)
c.6732G>A (p.Arg2244=)
c.9960G>A (p.Arg3320=)
 gnomAD v4
8g.99861831G>CCA462338063VPS13Bc.*269G>C (n.*269G>C)
n.11245G>C
c.*6857G>C (n.*6857G>C)
c.11100G>C (p.Arg3700=)
c.11175G>C (p.Arg3725=)
c.11172G>C (p.Arg3724=)
c.11097G>C (p.Arg3699=)
c.10797G>C (p.Arg3599=)
c.8061G>C (p.Arg2687=)
c.6954G>C (p.Arg2318=)
c.10980G>C (p.Arg3660=)
c.6732G>C (p.Arg2244=)
c.9960G>C (p.Arg3320=)
8g.99861831G>TCA462338064VPS13Bc.*269G>T (n.*269G>T)
n.11245G>T
c.*6857G>T (n.*6857G>T)
c.11100G>T (p.Arg3700=)
c.11175G>T (p.Arg3725=)
c.11172G>T (p.Arg3724=)
c.11097G>T (p.Arg3699=)
c.10797G>T (p.Arg3599=)
c.8061G>T (p.Arg2687=)
c.6954G>T (p.Arg2318=)
c.10980G>T (p.Arg3660=)
c.6732G>T (p.Arg2244=)
c.9960G>T (p.Arg3320=)
 gnomAD v4
8g.99861832C>ACA371790415VPS13Bc.*270C>A (n.*270C>A)
n.11246C>A
c.*6858C>A (n.*6858C>A)
c.11101C>A (p.Leu3701Ile)
c.11176C>A (p.Leu3726Ile)
c.11173C>A (p.Leu3725Ile)
c.11098C>A (p.Leu3700Ile)
c.10798C>A (p.Leu3600Ile)
c.8062C>A (p.Leu2688Ile)
c.6955C>A (p.Leu2319Ile)
c.10981C>A (p.Leu3661Ile)
c.6733C>A (p.Leu2245Ile)
c.9961C>A (p.Leu3321Ile)
 gnomAD v4
8g.99861832C>GCA371790417VPS13Bc.*270C>G (n.*270C>G)
n.11246C>G
c.*6858C>G (n.*6858C>G)
c.11101C>G (p.Leu3701Val)
c.11176C>G (p.Leu3726Val)
c.11173C>G (p.Leu3725Val)
c.11098C>G (p.Leu3700Val)
c.10798C>G (p.Leu3600Val)
c.8062C>G (p.Leu2688Val)
c.6955C>G (p.Leu2319Val)
c.10981C>G (p.Leu3661Val)
c.6733C>G (p.Leu2245Val)
c.9961C>G (p.Leu3321Val)
8g.99861832C>TCA371790420VPS13Bc.*270C>T (n.*270C>T)
n.11246C>T
c.*6858C>T (n.*6858C>T)
c.11101C>T (p.Leu3701Phe)
c.11176C>T (p.Leu3726Phe)
c.11173C>T (p.Leu3725Phe)
c.11098C>T (p.Leu3700Phe)
c.10798C>T (p.Leu3600Phe)
c.8062C>T (p.Leu2688Phe)
c.6955C>T (p.Leu2319Phe)
c.10981C>T (p.Leu3661Phe)
c.6733C>T (p.Leu2245Phe)
c.9961C>T (p.Leu3321Phe)
 gnomAD v4
8g.99861833T>ACA371790422VPS13Bc.*271T>A (n.*271T>A)
n.11247T>A
c.*6859T>A (n.*6859T>A)
c.11102T>A (p.Leu3701His)
c.11177T>A (p.Leu3726His)
c.11174T>A (p.Leu3725His)
c.11099T>A (p.Leu3700His)
c.10799T>A (p.Leu3600His)
c.8063T>A (p.Leu2688His)
c.6956T>A (p.Leu2319His)
c.10982T>A (p.Leu3661His)
c.6734T>A (p.Leu2245His)
c.9962T>A (p.Leu3321His)
8g.99861833T>CCA371790424VPS13Bc.*271T>C (n.*271T>C)
n.11247T>C
c.*6859T>C (n.*6859T>C)
c.11102T>C (p.Leu3701Pro)
c.11177T>C (p.Leu3726Pro)
c.11174T>C (p.Leu3725Pro)
c.11099T>C (p.Leu3700Pro)
c.10799T>C (p.Leu3600Pro)
c.8063T>C (p.Leu2688Pro)
c.6956T>C (p.Leu2319Pro)
c.10982T>C (p.Leu3661Pro)
c.6734T>C (p.Leu2245Pro)
c.9962T>C (p.Leu3321Pro)
8g.99861833T>GCA371790426VPS13Bc.*271T>G (n.*271T>G)
n.11247T>G
c.*6859T>G (n.*6859T>G)
c.11102T>G (p.Leu3701Arg)
c.11177T>G (p.Leu3726Arg)
c.11174T>G (p.Leu3725Arg)
c.11099T>G (p.Leu3700Arg)
c.10799T>G (p.Leu3600Arg)
c.8063T>G (p.Leu2688Arg)
c.6956T>G (p.Leu2319Arg)
c.10982T>G (p.Leu3661Arg)
c.6734T>G (p.Leu2245Arg)
c.9962T>G (p.Leu3321Arg)
8g.99861834C>ACA462338065VPS13Bc.*272C>A (n.*272C>A)
n.11248C>A
c.*6860C>A (n.*6860C>A)
c.11103C>A (p.Leu3701=)
c.11178C>A (p.Leu3726=)
c.11175C>A (p.Leu3725=)
c.11100C>A (p.Leu3700=)
c.10800C>A (p.Leu3600=)
c.8064C>A (p.Leu2688=)
c.6957C>A (p.Leu2319=)
c.10983C>A (p.Leu3661=)
c.6735C>A (p.Leu2245=)
c.9963C>A (p.Leu3321=)
 ClinVar gnomAD v4
8g.99861834C>GCA462338066VPS13Bc.*272C>G (n.*272C>G)
n.11248C>G
c.*6860C>G (n.*6860C>G)
c.11103C>G (p.Leu3701=)
c.11178C>G (p.Leu3726=)
c.11175C>G (p.Leu3725=)
c.11100C>G (p.Leu3700=)
c.10800C>G (p.Leu3600=)
c.8064C>G (p.Leu2688=)
c.6957C>G (p.Leu2319=)
c.10983C>G (p.Leu3661=)
c.6735C>G (p.Leu2245=)
c.9963C>G (p.Leu3321=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.99861834C>TCA462338067VPS13Bc.*272C>T (n.*272C>T)
n.11248C>T
c.*6860C>T (n.*6860C>T)
c.11103C>T (p.Leu3701=)
c.11178C>T (p.Leu3726=)
c.11175C>T (p.Leu3725=)
c.11100C>T (p.Leu3700=)
c.10800C>T (p.Leu3600=)
c.8064C>T (p.Leu2688=)
c.6957C>T (p.Leu2319=)
c.10983C>T (p.Leu3661=)
c.6735C>T (p.Leu2245=)
c.9963C>T (p.Leu3321=)
8g.99861835T>ACA371790428VPS13Bc.*273T>A (n.*273T>A)
n.11249T>A
c.*6861T>A (n.*6861T>A)
c.11104T>A (p.Ser3702Thr)
c.11179T>A (p.Ser3727Thr)
c.11176T>A (p.Ser3726Thr)
c.11101T>A (p.Ser3701Thr)
c.10801T>A (p.Ser3601Thr)
c.8065T>A (p.Ser2689Thr)
c.6958T>A (p.Ser2320Thr)
c.10984T>A (p.Ser3662Thr)
c.6736T>A (p.Ser2246Thr)
c.9964T>A (p.Ser3322Thr)
8g.99861835T>CCA371790432VPS13Bc.*273T>C (n.*273T>C)
n.11249T>C
c.*6861T>C (n.*6861T>C)
c.11104T>C (p.Ser3702Pro)
c.11179T>C (p.Ser3727Pro)
c.11176T>C (p.Ser3726Pro)
c.11101T>C (p.Ser3701Pro)
c.10801T>C (p.Ser3601Pro)
c.8065T>C (p.Ser2689Pro)
c.6958T>C (p.Ser2320Pro)
c.10984T>C (p.Ser3662Pro)
c.6736T>C (p.Ser2246Pro)
c.9964T>C (p.Ser3322Pro)
8g.99861835T>GCA371790430VPS13Bc.*273T>G (n.*273T>G)
n.11249T>G
c.*6861T>G (n.*6861T>G)
c.11104T>G (p.Ser3702Ala)
c.11179T>G (p.Ser3727Ala)
c.11176T>G (p.Ser3726Ala)
c.11101T>G (p.Ser3701Ala)
c.10801T>G (p.Ser3601Ala)
c.8065T>G (p.Ser2689Ala)
c.6958T>G (p.Ser2320Ala)
c.10984T>G (p.Ser3662Ala)
c.6736T>G (p.Ser2246Ala)
c.9964T>G (p.Ser3322Ala)
8g.99861836C>ACA371790435VPS13Bc.*274C>A (n.*274C>A)
n.11250C>A
c.*6862C>A (n.*6862C>A)
c.11105C>A (p.Ser3702Ter)
c.11180C>A (p.Ser3727Ter)
c.11177C>A (p.Ser3726Ter)
c.11102C>A (p.Ser3701Ter)
c.10802C>A (p.Ser3601Ter)
c.8066C>A (p.Ser2689Ter)
c.6959C>A (p.Ser2320Ter)
c.10985C>A (p.Ser3662Ter)
c.6737C>A (p.Ser2246Ter)
c.9965C>A (p.Ser3322Ter)
8g.99861836C>GCA371790438VPS13Bc.*274C>G (n.*274C>G)
n.11250C>G
c.*6862C>G (n.*6862C>G)
c.11105C>G (p.Ser3702Ter)
c.11180C>G (p.Ser3727Ter)
c.11177C>G (p.Ser3726Ter)
c.11102C>G (p.Ser3701Ter)
c.10802C>G (p.Ser3601Ter)
c.8066C>G (p.Ser2689Ter)
c.6959C>G (p.Ser2320Ter)
c.10985C>G (p.Ser3662Ter)
c.6737C>G (p.Ser2246Ter)
c.9965C>G (p.Ser3322Ter)
8g.99861836C>TCA371790440VPS13Bc.*274C>T (n.*274C>T)
n.11250C>T
c.*6862C>T (n.*6862C>T)
c.11105C>T (p.Ser3702Leu)
c.11180C>T (p.Ser3727Leu)
c.11177C>T (p.Ser3726Leu)
c.11102C>T (p.Ser3701Leu)
c.10802C>T (p.Ser3601Leu)
c.8066C>T (p.Ser2689Leu)
c.6959C>T (p.Ser2320Leu)
c.10985C>T (p.Ser3662Leu)
c.6737C>T (p.Ser2246Leu)
c.9965C>T (p.Ser3322Leu)
 dbSNP gnomAD v2 gnomAD v4
8g.99861836_99861845delCA16041272VPS13Bc.*274_*283del (n.*274_*283del)
n.11250_11259del
c.*6862_*6871del (n.*6862_*6871del)
c.11105_11114del (p.Ser3702TrpfsTer?)
c.11180_11189del (p.Ser3727TrpfsTer?)
c.11177_11186del (p.Ser3726TrpfsTer?)
c.11102_11111del (p.Ser3701TrpfsTer?)
c.10802_10811del (p.Ser3601TrpfsTer?)
c.8066_8075del (p.Ser2689TrpfsTer?)
c.6959_6968del (p.Ser2320TrpfsTer?)
c.10985_10994del (p.Ser3662TrpfsTer?)
c.6737_6746del (p.Ser2246TrpfsTer?)
c.9965_9974del (p.Ser3322TrpfsTer?)
 ClinVar dbSNP
8g.99861837A>CCA462338068VPS13Bc.*275A>C (n.*275A>C)
n.11251A>C
c.*6863A>C (n.*6863A>C)
c.11106A>C (p.Ser3702=)
c.11181A>C (p.Ser3727=)
c.11178A>C (p.Ser3726=)
c.11103A>C (p.Ser3701=)
c.10803A>C (p.Ser3601=)
c.8067A>C (p.Ser2689=)
c.6960A>C (p.Ser2320=)
c.10986A>C (p.Ser3662=)
c.6738A>C (p.Ser2246=)
c.9966A>C (p.Ser3322=)
8g.99861837A>GCA462338069VPS13Bc.*275A>G (n.*275A>G)
n.11251A>G
c.*6863A>G (n.*6863A>G)
c.11106A>G (p.Ser3702=)
c.11181A>G (p.Ser3727=)
c.11178A>G (p.Ser3726=)
c.11103A>G (p.Ser3701=)
c.10803A>G (p.Ser3601=)
c.8067A>G (p.Ser2689=)
c.6960A>G (p.Ser2320=)
c.10986A>G (p.Ser3662=)
c.6738A>G (p.Ser2246=)
c.9966A>G (p.Ser3322=)
 dbSNP gnomAD v4
8g.99861837A>TCA462338070VPS13Bc.*275A>T (n.*275A>T)
n.11251A>T
c.*6863A>T (n.*6863A>T)
c.11106A>T (p.Ser3702=)
c.11181A>T (p.Ser3727=)
c.11178A>T (p.Ser3726=)
c.11103A>T (p.Ser3701=)
c.10803A>T (p.Ser3601=)
c.8067A>T (p.Ser2689=)
c.6960A>T (p.Ser2320=)
c.10986A>T (p.Ser3662=)
c.6738A>T (p.Ser2246=)
c.9966A>T (p.Ser3322=)
8g.99861838C>ACA371790444VPS13Bc.*276C>A (n.*276C>A)
n.11252C>A
c.*6864C>A (n.*6864C>A)
c.11107C>A (p.Leu3703Met)
c.11182C>A (p.Leu3728Met)
c.11179C>A (p.Leu3727Met)
c.11104C>A (p.Leu3702Met)
c.10804C>A (p.Leu3602Met)
c.8068C>A (p.Leu2690Met)
c.6961C>A (p.Leu2321Met)
c.10987C>A (p.Leu3663Met)
c.6739C>A (p.Leu2247Met)
c.9967C>A (p.Leu3323Met)
 gnomAD v4
8g.99861838C>GCA371790446VPS13Bc.*276C>G (n.*276C>G)
n.11252C>G
c.*6864C>G (n.*6864C>G)
c.11107C>G (p.Leu3703Val)
c.11182C>G (p.Leu3728Val)
c.11179C>G (p.Leu3727Val)
c.11104C>G (p.Leu3702Val)
c.10804C>G (p.Leu3602Val)
c.8068C>G (p.Leu2690Val)
c.6961C>G (p.Leu2321Val)
c.10987C>G (p.Leu3663Val)
c.6739C>G (p.Leu2247Val)
c.9967C>G (p.Leu3323Val)
8g.99861838C>TCA462338071VPS13Bc.*276C>T (n.*276C>T)
n.11252C>T
c.*6864C>T (n.*6864C>T)
c.11107C>T (p.Leu3703=)
c.11182C>T (p.Leu3728=)
c.11179C>T (p.Leu3727=)
c.11104C>T (p.Leu3702=)
c.10804C>T (p.Leu3602=)
c.8068C>T (p.Leu2690=)
c.6961C>T (p.Leu2321=)
c.10987C>T (p.Leu3663=)
c.6739C>T (p.Leu2247=)
c.9967C>T (p.Leu3323=)
8g.99861839T>ACA371790448VPS13Bc.*277T>A (n.*277T>A)
n.11253T>A
c.*6865T>A (n.*6865T>A)
c.11108T>A (p.Leu3703Gln)
c.11183T>A (p.Leu3728Gln)
c.11180T>A (p.Leu3727Gln)
c.11105T>A (p.Leu3702Gln)
c.10805T>A (p.Leu3602Gln)
c.8069T>A (p.Leu2690Gln)
c.6962T>A (p.Leu2321Gln)
c.10988T>A (p.Leu3663Gln)
c.6740T>A (p.Leu2247Gln)
c.9968T>A (p.Leu3323Gln)
8g.99861839T>CCA371790450VPS13Bc.*277T>C (n.*277T>C)
n.11253T>C
c.*6865T>C (n.*6865T>C)
c.11108T>C (p.Leu3703Pro)
c.11183T>C (p.Leu3728Pro)
c.11180T>C (p.Leu3727Pro)
c.11105T>C (p.Leu3702Pro)
c.10805T>C (p.Leu3602Pro)
c.8069T>C (p.Leu2690Pro)
c.6962T>C (p.Leu2321Pro)
c.10988T>C (p.Leu3663Pro)
c.6740T>C (p.Leu2247Pro)
c.9968T>C (p.Leu3323Pro)
 gnomAD v4
8g.99861839T>GCA371790451VPS13Bc.*277T>G (n.*277T>G)
n.11253T>G
c.*6865T>G (n.*6865T>G)
c.11108T>G (p.Leu3703Arg)
c.11183T>G (p.Leu3728Arg)
c.11180T>G (p.Leu3727Arg)
c.11105T>G (p.Leu3702Arg)
c.10805T>G (p.Leu3602Arg)
c.8069T>G (p.Leu2690Arg)
c.6962T>G (p.Leu2321Arg)
c.10988T>G (p.Leu3663Arg)
c.6740T>G (p.Leu2247Arg)
c.9968T>G (p.Leu3323Arg)
8g.99861840G>ACA4825145VPS13Bc.*278G>A (n.*278G>A)
n.11254G>A
c.*6866G>A (n.*6866G>A)
c.11109G>A (p.Leu3703=)
c.11184G>A (p.Leu3728=)
c.11181G>A (p.Leu3727=)
c.11106G>A (p.Leu3702=)
c.10806G>A (p.Leu3602=)
c.8070G>A (p.Leu2690=)
c.6963G>A (p.Leu2321=)
c.10989G>A (p.Leu3663=)
c.6741G>A (p.Leu2247=)
c.9969G>A (p.Leu3323=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99861840G>CCA462338072VPS13Bc.*278G>C (n.*278G>C)
n.11254G>C
c.*6866G>C (n.*6866G>C)
c.11109G>C (p.Leu3703=)
c.11184G>C (p.Leu3728=)
c.11181G>C (p.Leu3727=)
c.11106G>C (p.Leu3702=)
c.10806G>C (p.Leu3602=)
c.8070G>C (p.Leu2690=)
c.6963G>C (p.Leu2321=)
c.10989G>C (p.Leu3663=)
c.6741G>C (p.Leu2247=)
c.9969G>C (p.Leu3323=)
 dbSNP gnomAD v2 gnomAD v4
8g.99861840G>TCA462338073VPS13Bc.*278G>T (n.*278G>T)
n.11254G>T
c.*6866G>T (n.*6866G>T)
c.11109G>T (p.Leu3703=)
c.11184G>T (p.Leu3728=)
c.11181G>T (p.Leu3727=)
c.11106G>T (p.Leu3702=)
c.10806G>T (p.Leu3602=)
c.8070G>T (p.Leu2690=)
c.6963G>T (p.Leu2321=)
c.10989G>T (p.Leu3663=)
c.6741G>T (p.Leu2247=)
c.9969G>T (p.Leu3323=)
 gnomAD v4
8g.99861841G>ACA371790457VPS13Bc.*279G>A (n.*279G>A)
n.11255G>A
c.*6867G>A (n.*6867G>A)
c.11110G>A (p.Asp3704Asn)
c.11185G>A (p.Asp3729Asn)
c.11182G>A (p.Asp3728Asn)
c.11107G>A (p.Asp3703Asn)
c.10807G>A (p.Asp3603Asn)
c.8071G>A (p.Asp2691Asn)
c.6964G>A (p.Asp2322Asn)
c.10990G>A (p.Asp3664Asn)
c.6742G>A (p.Asp2248Asn)
c.9970G>A (p.Asp3324Asn)
 COSMIC COSMIC
8g.99861841G>CCA371790455VPS13Bc.*279G>C (n.*279G>C)
n.11255G>C
c.*6867G>C (n.*6867G>C)
c.11110G>C (p.Asp3704His)
c.11185G>C (p.Asp3729His)
c.11182G>C (p.Asp3728His)
c.11107G>C (p.Asp3703His)
c.10807G>C (p.Asp3603His)
c.8071G>C (p.Asp2691His)
c.6964G>C (p.Asp2322His)
c.10990G>C (p.Asp3664His)
c.6742G>C (p.Asp2248His)
c.9970G>C (p.Asp3324His)
8g.99861841G>TCA371790453VPS13Bc.*279G>T (n.*279G>T)
n.11255G>T
c.*6867G>T (n.*6867G>T)
c.11110G>T (p.Asp3704Tyr)
c.11185G>T (p.Asp3729Tyr)
c.11182G>T (p.Asp3728Tyr)
c.11107G>T (p.Asp3703Tyr)
c.10807G>T (p.Asp3603Tyr)
c.8071G>T (p.Asp2691Tyr)
c.6964G>T (p.Asp2322Tyr)
c.10990G>T (p.Asp3664Tyr)
c.6742G>T (p.Asp2248Tyr)
c.9970G>T (p.Asp3324Tyr)
 gnomAD v4
8g.99861842A>CCA371790460VPS13Bc.*280A>C (n.*280A>C)
n.11256A>C
c.*6868A>C (n.*6868A>C)
c.11111A>C (p.Asp3704Ala)
c.11186A>C (p.Asp3729Ala)
c.11183A>C (p.Asp3728Ala)
c.11108A>C (p.Asp3703Ala)
c.10808A>C (p.Asp3603Ala)
c.8072A>C (p.Asp2691Ala)
c.6965A>C (p.Asp2322Ala)
c.10991A>C (p.Asp3664Ala)
c.6743A>C (p.Asp2248Ala)
c.9971A>C (p.Asp3324Ala)
8g.99861842A>GCA371790461VPS13Bc.*280A>G (n.*280A>G)
n.11256A>G
c.*6868A>G (n.*6868A>G)
c.11111A>G (p.Asp3704Gly)
c.11186A>G (p.Asp3729Gly)
c.11183A>G (p.Asp3728Gly)
c.11108A>G (p.Asp3703Gly)
c.10808A>G (p.Asp3603Gly)
c.8072A>G (p.Asp2691Gly)
c.6965A>G (p.Asp2322Gly)
c.10991A>G (p.Asp3664Gly)
c.6743A>G (p.Asp2248Gly)
c.9971A>G (p.Asp3324Gly)
 gnomAD v4
8g.99861842A>TCA371790462VPS13Bc.*280A>T (n.*280A>T)
n.11256A>T
c.*6868A>T (n.*6868A>T)
c.11111A>T (p.Asp3704Val)
c.11186A>T (p.Asp3729Val)
c.11183A>T (p.Asp3728Val)
c.11108A>T (p.Asp3703Val)
c.10808A>T (p.Asp3603Val)
c.8072A>T (p.Asp2691Val)
c.6965A>T (p.Asp2322Val)
c.10991A>T (p.Asp3664Val)
c.6743A>T (p.Asp2248Val)
c.9971A>T (p.Asp3324Val)
8g.99861843T>ACA371790465VPS13Bc.*281T>A (n.*281T>A)
n.11257T>A
c.*6869T>A (n.*6869T>A)
c.11112T>A (p.Asp3704Glu)
c.11187T>A (p.Asp3729Glu)
c.11184T>A (p.Asp3728Glu)
c.11109T>A (p.Asp3703Glu)
c.10809T>A (p.Asp3603Glu)
c.8073T>A (p.Asp2691Glu)
c.6966T>A (p.Asp2322Glu)
c.10992T>A (p.Asp3664Glu)
c.6744T>A (p.Asp2248Glu)
c.9972T>A (p.Asp3324Glu)
8g.99861843T>CCA462338074VPS13Bc.*281T>C (n.*281T>C)
n.11257T>C
c.*6869T>C (n.*6869T>C)
c.11112T>C (p.Asp3704=)
c.11187T>C (p.Asp3729=)
c.11184T>C (p.Asp3728=)
c.11109T>C (p.Asp3703=)
c.10809T>C (p.Asp3603=)
c.8073T>C (p.Asp2691=)
c.6966T>C (p.Asp2322=)
c.10992T>C (p.Asp3664=)
c.6744T>C (p.Asp2248=)
c.9972T>C (p.Asp3324=)
8g.99861843T>GCA371790467VPS13Bc.*281T>G (n.*281T>G)
n.11257T>G
c.*6869T>G (n.*6869T>G)
c.11112T>G (p.Asp3704Glu)
c.11187T>G (p.Asp3729Glu)
c.11184T>G (p.Asp3728Glu)
c.11109T>G (p.Asp3703Glu)
c.10809T>G (p.Asp3603Glu)
c.8073T>G (p.Asp2691Glu)
c.6966T>G (p.Asp2322Glu)
c.10992T>G (p.Asp3664Glu)
c.6744T>G (p.Asp2248Glu)
c.9972T>G (p.Asp3324Glu)
 gnomAD v4
8g.99861844G>ACA4825146VPS13Bc.*282G>A (n.*282G>A)
n.11258G>A
c.*6870G>A (n.*6870G>A)
c.11113G>A (p.Glu3705Lys)
c.11188G>A (p.Glu3730Lys)
c.11185G>A (p.Glu3729Lys)
c.11110G>A (p.Glu3704Lys)
c.10810G>A (p.Glu3604Lys)
c.8074G>A (p.Glu2692Lys)
c.6967G>A (p.Glu2323Lys)
c.10993G>A (p.Glu3665Lys)
c.6745G>A (p.Glu2249Lys)
c.9973G>A (p.Glu3325Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.99861844G>CCA371790470VPS13Bc.*282G>C (n.*282G>C)
n.11258G>C
c.*6870G>C (n.*6870G>C)
c.11113G>C (p.Glu3705Gln)
c.11188G>C (p.Glu3730Gln)
c.11185G>C (p.Glu3729Gln)
c.11110G>C (p.Glu3704Gln)
c.10810G>C (p.Glu3604Gln)
c.8074G>C (p.Glu2692Gln)
c.6967G>C (p.Glu2323Gln)
c.10993G>C (p.Glu3665Gln)
c.6745G>C (p.Glu2249Gln)
c.9973G>C (p.Glu3325Gln)
8g.99861844G>TCA182321424VPS13Bc.*282G>T (n.*282G>T)
n.11258G>T
c.*6870G>T (n.*6870G>T)
c.11113G>T (p.Glu3705Ter)
c.11188G>T (p.Glu3730Ter)
c.11185G>T (p.Glu3729Ter)
c.11110G>T (p.Glu3704Ter)
c.10810G>T (p.Glu3604Ter)
c.8074G>T (p.Glu2692Ter)
c.6967G>T (p.Glu2323Ter)
c.10993G>T (p.Glu3665Ter)
c.6745G>T (p.Glu2249Ter)
c.9973G>T (p.Glu3325Ter)
 dbSNP gnomAD v4
8g.99861845A>CCA371790474VPS13Bc.*283A>C (n.*283A>C)
n.11259A>C
c.*6871A>C (n.*6871A>C)
c.11114A>C (p.Glu3705Ala)
c.11189A>C (p.Glu3730Ala)
c.11186A>C (p.Glu3729Ala)
c.11111A>C (p.Glu3704Ala)
c.10811A>C (p.Glu3604Ala)
c.8075A>C (p.Glu2692Ala)
c.6968A>C (p.Glu2323Ala)
c.10994A>C (p.Glu3665Ala)
c.6746A>C (p.Glu2249Ala)
c.9974A>C (p.Glu3325Ala)
8g.99861845A>GCA371790476VPS13Bc.*283A>G (n.*283A>G)
n.11259A>G
c.*6871A>G (n.*6871A>G)
c.11114A>G (p.Glu3705Gly)
c.11189A>G (p.Glu3730Gly)
c.11186A>G (p.Glu3729Gly)
c.11111A>G (p.Glu3704Gly)
c.10811A>G (p.Glu3604Gly)
c.8075A>G (p.Glu2692Gly)
c.6968A>G (p.Glu2323Gly)
c.10994A>G (p.Glu3665Gly)
c.6746A>G (p.Glu2249Gly)
c.9974A>G (p.Glu3325Gly)
8g.99861845A>TCA4825147VPS13Bc.*283A>T (n.*283A>T)
n.11259A>T
c.*6871A>T (n.*6871A>T)
c.11114A>T (p.Glu3705Val)
c.11189A>T (p.Glu3730Val)
c.11186A>T (p.Glu3729Val)
c.11111A>T (p.Glu3704Val)
c.10811A>T (p.Glu3604Val)
c.8075A>T (p.Glu2692Val)
c.6968A>T (p.Glu2323Val)
c.10994A>T (p.Glu3665Val)
c.6746A>T (p.Glu2249Val)
c.9974A>T (p.Glu3325Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99861846G>ACA462338075VPS13Bc.*284G>A (n.*284G>A)
n.11260G>A
c.*6872G>A (n.*6872G>A)
c.11115G>A (p.Glu3705=)
c.11190G>A (p.Glu3730=)
c.11187G>A (p.Glu3729=)
c.11112G>A (p.Glu3704=)
c.10812G>A (p.Glu3604=)
c.8076G>A (p.Glu2692=)
c.6969G>A (p.Glu2323=)
c.10995G>A (p.Glu3665=)
c.6747G>A (p.Glu2249=)
c.9975G>A (p.Glu3325=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.99861846G>CCA371790478VPS13Bc.*284G>C (n.*284G>C)
n.11260G>C
c.*6872G>C (n.*6872G>C)
c.11115G>C (p.Glu3705Asp)
c.11190G>C (p.Glu3730Asp)
c.11187G>C (p.Glu3729Asp)
c.11112G>C (p.Glu3704Asp)
c.10812G>C (p.Glu3604Asp)
c.8076G>C (p.Glu2692Asp)
c.6969G>C (p.Glu2323Asp)
c.10995G>C (p.Glu3665Asp)
c.6747G>C (p.Glu2249Asp)
c.9975G>C (p.Glu3325Asp)
8g.99861846G>TCA371790480VPS13Bc.*284G>T (n.*284G>T)
n.11260G>T
c.*6872G>T (n.*6872G>T)
c.11115G>T (p.Glu3705Asp)
c.11190G>T (p.Glu3730Asp)
c.11187G>T (p.Glu3729Asp)
c.11112G>T (p.Glu3704Asp)
c.10812G>T (p.Glu3604Asp)
c.8076G>T (p.Glu2692Asp)
c.6969G>T (p.Glu2323Asp)
c.10995G>T (p.Glu3665Asp)
c.6747G>T (p.Glu2249Asp)
c.9975G>T (p.Glu3325Asp)
8g.99861847G>ACA371790486VPS13Bc.*285G>A (n.*285G>A)
n.11261G>A
c.*6873G>A (n.*6873G>A)
c.11116G>A (p.Glu3706Lys)
c.11191G>A (p.Glu3731Lys)
c.11188G>A (p.Glu3730Lys)
c.11113G>A (p.Glu3705Lys)
c.10813G>A (p.Glu3605Lys)
c.8077G>A (p.Glu2693Lys)
c.6970G>A (p.Glu2324Lys)
c.10996G>A (p.Glu3666Lys)
c.6748G>A (p.Glu2250Lys)
c.9976G>A (p.Glu3326Lys)
 gnomAD v4
8g.99861847G>CCA371790484VPS13Bc.*285G>C (n.*285G>C)
n.11261G>C
c.*6873G>C (n.*6873G>C)
c.11116G>C (p.Glu3706Gln)
c.11191G>C (p.Glu3731Gln)
c.11188G>C (p.Glu3730Gln)
c.11113G>C (p.Glu3705Gln)
c.10813G>C (p.Glu3605Gln)
c.8077G>C (p.Glu2693Gln)
c.6970G>C (p.Glu2324Gln)
c.10996G>C (p.Glu3666Gln)
c.6748G>C (p.Glu2250Gln)
c.9976G>C (p.Glu3326Gln)
8g.99861847G>TCA371790482VPS13Bc.*285G>T (n.*285G>T)
n.11261G>T
c.*6873G>T (n.*6873G>T)
c.11116G>T (p.Glu3706Ter)
c.11191G>T (p.Glu3731Ter)
c.11188G>T (p.Glu3730Ter)
c.11113G>T (p.Glu3705Ter)
c.10813G>T (p.Glu3605Ter)
c.8077G>T (p.Glu2693Ter)
c.6970G>T (p.Glu2324Ter)
c.10996G>T (p.Glu3666Ter)
c.6748G>T (p.Glu2250Ter)
c.9976G>T (p.Glu3326Ter)
8g.99861848A>CCA371790487VPS13Bc.*286A>C (n.*286A>C)
n.11262A>C
c.*6874A>C (n.*6874A>C)
c.11117A>C (p.Glu3706Ala)
c.11192A>C (p.Glu3731Ala)
c.11189A>C (p.Glu3730Ala)
c.11114A>C (p.Glu3705Ala)
c.10814A>C (p.Glu3605Ala)
c.8078A>C (p.Glu2693Ala)
c.6971A>C (p.Glu2324Ala)
c.10997A>C (p.Glu3666Ala)
c.6749A>C (p.Glu2250Ala)
c.9977A>C (p.Glu3326Ala)
8g.99861848A>GCA371790489VPS13Bc.*286A>G (n.*286A>G)
n.11262A>G
c.*6874A>G (n.*6874A>G)
c.11117A>G (p.Glu3706Gly)
c.11192A>G (p.Glu3731Gly)
c.11189A>G (p.Glu3730Gly)
c.11114A>G (p.Glu3705Gly)
c.10814A>G (p.Glu3605Gly)
c.8078A>G (p.Glu2693Gly)
c.6971A>G (p.Glu2324Gly)
c.10997A>G (p.Glu3666Gly)
c.6749A>G (p.Glu2250Gly)
c.9977A>G (p.Glu3326Gly)
 gnomAD v4
8g.99861848A>TCA371790491VPS13Bc.*286A>T (n.*286A>T)
n.11262A>T
c.*6874A>T (n.*6874A>T)
c.11117A>T (p.Glu3706Val)
c.11192A>T (p.Glu3731Val)
c.11189A>T (p.Glu3730Val)
c.11114A>T (p.Glu3705Val)
c.10814A>T (p.Glu3605Val)
c.8078A>T (p.Glu2693Val)
c.6971A>T (p.Glu2324Val)
c.10997A>T (p.Glu3666Val)
c.6749A>T (p.Glu2250Val)
c.9977A>T (p.Glu3326Val)
 gnomAD v4
8g.99861849G>ACA4825148VPS13Bc.*287G>A (n.*287G>A)
n.11263G>A
c.*6875G>A (n.*6875G>A)
c.11118G>A (p.Glu3706=)
c.11193G>A (p.Glu3731=)
c.11190G>A (p.Glu3730=)
c.11115G>A (p.Glu3705=)
c.10815G>A (p.Glu3605=)
c.8079G>A (p.Glu2693=)
c.6972G>A (p.Glu2324=)
c.10998G>A (p.Glu3666=)
c.6750G>A (p.Glu2250=)
c.9978G>A (p.Glu3326=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99861849G>CCA371790495VPS13Bc.*287G>C (n.*287G>C)
n.11263G>C
c.*6875G>C (n.*6875G>C)
c.11118G>C (p.Glu3706Asp)
c.11193G>C (p.Glu3731Asp)
c.11190G>C (p.Glu3730Asp)
c.11115G>C (p.Glu3705Asp)
c.10815G>C (p.Glu3605Asp)
c.8079G>C (p.Glu2693Asp)
c.6972G>C (p.Glu2324Asp)
c.10998G>C (p.Glu3666Asp)
c.6750G>C (p.Glu2250Asp)
c.9978G>C (p.Glu3326Asp)
8g.99861849G>TCA371790497VPS13Bc.*287G>T (n.*287G>T)
n.11263G>T
c.*6875G>T (n.*6875G>T)
c.11118G>T (p.Glu3706Asp)
c.11193G>T (p.Glu3731Asp)
c.11190G>T (p.Glu3730Asp)
c.11115G>T (p.Glu3705Asp)
c.10815G>T (p.Glu3605Asp)
c.8079G>T (p.Glu2693Asp)
c.6972G>T (p.Glu2324Asp)
c.10998G>T (p.Glu3666Asp)
c.6750G>T (p.Glu2250Asp)
c.9978G>T (p.Glu3326Asp)
 gnomAD v4
8g.99861850C>ACA371790499VPS13Bc.*288C>A (n.*288C>A)
n.11264C>A
c.*6876C>A (n.*6876C>A)
c.11119C>A (p.His3707Asn)
c.11194C>A (p.His3732Asn)
c.11191C>A (p.His3731Asn)
c.11116C>A (p.His3706Asn)
c.10816C>A (p.His3606Asn)
c.8080C>A (p.His2694Asn)
c.6973C>A (p.His2325Asn)
c.10999C>A (p.His3667Asn)
c.6751C>A (p.His2251Asn)
c.9979C>A (p.His3327Asn)
 gnomAD v4
8g.99861850C>GCA371790500VPS13Bc.*288C>G (n.*288C>G)
n.11264C>G
c.*6876C>G (n.*6876C>G)
c.11119C>G (p.His3707Asp)
c.11194C>G (p.His3732Asp)
c.11191C>G (p.His3731Asp)
c.11116C>G (p.His3706Asp)
c.10816C>G (p.His3606Asp)
c.8080C>G (p.His2694Asp)
c.6973C>G (p.His2325Asp)
c.10999C>G (p.His3667Asp)
c.6751C>G (p.His2251Asp)
c.9979C>G (p.His3327Asp)
8g.99861850C>TCA371790502VPS13Bc.*288C>T (n.*288C>T)
n.11264C>T
c.*6876C>T (n.*6876C>T)
c.11119C>T (p.His3707Tyr)
c.11194C>T (p.His3732Tyr)
c.11191C>T (p.His3731Tyr)
c.11116C>T (p.His3706Tyr)
c.10816C>T (p.His3606Tyr)
c.8080C>T (p.His2694Tyr)
c.6973C>T (p.His2325Tyr)
c.10999C>T (p.His3667Tyr)
c.6751C>T (p.His2251Tyr)
c.9979C>T (p.His3327Tyr)
8g.99861851A>CCA371790504VPS13Bc.*289A>C (n.*289A>C)
n.11265A>C
c.*6877A>C (n.*6877A>C)
c.11120A>C (p.His3707Pro)
c.11195A>C (p.His3732Pro)
c.11192A>C (p.His3731Pro)
c.11117A>C (p.His3706Pro)
c.10817A>C (p.His3606Pro)
c.8081A>C (p.His2694Pro)
c.6974A>C (p.His2325Pro)
c.11000A>C (p.His3667Pro)
c.6752A>C (p.His2251Pro)
c.9980A>C (p.His3327Pro)
8g.99861851A>GCA371790506VPS13Bc.*289A>G (n.*289A>G)
n.11265A>G
c.*6877A>G (n.*6877A>G)
c.11120A>G (p.His3707Arg)
c.11195A>G (p.His3732Arg)
c.11192A>G (p.His3731Arg)
c.11117A>G (p.His3706Arg)
c.10817A>G (p.His3606Arg)
c.8081A>G (p.His2694Arg)
c.6974A>G (p.His2325Arg)
c.11000A>G (p.His3667Arg)
c.6752A>G (p.His2251Arg)
c.9980A>G (p.His3327Arg)
 dbSNP gnomAD v2 gnomAD v4
8g.99861851A>TCA371790508VPS13Bc.*289A>T (n.*289A>T)
n.11265A>T
c.*6877A>T (n.*6877A>T)
c.11120A>T (p.His3707Leu)
c.11195A>T (p.His3732Leu)
c.11192A>T (p.His3731Leu)
c.11117A>T (p.His3706Leu)
c.10817A>T (p.His3606Leu)
c.8081A>T (p.His2694Leu)
c.6974A>T (p.His2325Leu)
c.11000A>T (p.His3667Leu)
c.6752A>T (p.His2251Leu)
c.9980A>T (p.His3327Leu)
8g.99861852C>ACA371790509VPS13Bc.*290C>A (n.*290C>A)
n.11266C>A
c.*6878C>A (n.*6878C>A)
c.11121C>A (p.His3707Gln)
c.11196C>A (p.His3732Gln)
c.11193C>A (p.His3731Gln)
c.11118C>A (p.His3706Gln)
c.10818C>A (p.His3606Gln)
c.8082C>A (p.His2694Gln)
c.6975C>A (p.His2325Gln)
c.11001C>A (p.His3667Gln)
c.6753C>A (p.His2251Gln)
c.9981C>A (p.His3327Gln)
 gnomAD v4
8g.99861852C>GCA371790511VPS13Bc.*290C>G (n.*290C>G)
n.11266C>G
c.*6878C>G (n.*6878C>G)
c.11121C>G (p.His3707Gln)
c.11196C>G (p.His3732Gln)
c.11193C>G (p.His3731Gln)
c.11118C>G (p.His3706Gln)
c.10818C>G (p.His3606Gln)
c.8082C>G (p.His2694Gln)
c.6975C>G (p.His2325Gln)
c.11001C>G (p.His3667Gln)
c.6753C>G (p.His2251Gln)
c.9981C>G (p.His3327Gln)
8g.99861852C>TCA462338076VPS13Bc.*290C>T (n.*290C>T)
n.11266C>T
c.*6878C>T (n.*6878C>T)
c.11121C>T (p.His3707=)
c.11196C>T (p.His3732=)
c.11193C>T (p.His3731=)
c.11118C>T (p.His3706=)
c.10818C>T (p.His3606=)
c.8082C>T (p.His2694=)
c.6975C>T (p.His2325=)
c.11001C>T (p.His3667=)
c.6753C>T (p.His2251=)
c.9981C>T (p.His3327=)
 gnomAD v4
8g.99861853T>ACA371790515VPS13Bc.*291T>A (n.*291T>A)
n.11267T>A
c.*6879T>A (n.*6879T>A)
c.11122T>A (p.Tyr3708Asn)
c.11197T>A (p.Tyr3733Asn)
c.11194T>A (p.Tyr3732Asn)
c.11119T>A (p.Tyr3707Asn)
c.10819T>A (p.Tyr3607Asn)
c.8083T>A (p.Tyr2695Asn)
c.6976T>A (p.Tyr2326Asn)
c.11002T>A (p.Tyr3668Asn)
c.6754T>A (p.Tyr2252Asn)
c.9982T>A (p.Tyr3328Asn)
8g.99861853T>CCA371790516VPS13Bc.*291T>C (n.*291T>C)
n.11267T>C
c.*6879T>C (n.*6879T>C)
c.11122T>C (p.Tyr3708His)
c.11197T>C (p.Tyr3733His)
c.11194T>C (p.Tyr3732His)
c.11119T>C (p.Tyr3707His)
c.10819T>C (p.Tyr3607His)
c.8083T>C (p.Tyr2695His)
c.6976T>C (p.Tyr2326His)
c.11002T>C (p.Tyr3668His)
c.6754T>C (p.Tyr2252His)
c.9982T>C (p.Tyr3328His)
 gnomAD v4
8g.99861853T>GCA371790514VPS13Bc.*291T>G (n.*291T>G)
n.11267T>G
c.*6879T>G (n.*6879T>G)
c.11122T>G (p.Tyr3708Asp)
c.11197T>G (p.Tyr3733Asp)
c.11194T>G (p.Tyr3732Asp)
c.11119T>G (p.Tyr3707Asp)
c.10819T>G (p.Tyr3607Asp)
c.8083T>G (p.Tyr2695Asp)
c.6976T>G (p.Tyr2326Asp)
c.11002T>G (p.Tyr3668Asp)
c.6754T>G (p.Tyr2252Asp)
c.9982T>G (p.Tyr3328Asp)
8g.99861854A>CCA371790517VPS13Bc.*292A>C (n.*292A>C)
n.11268A>C
c.*6880A>C (n.*6880A>C)
c.11123A>C (p.Tyr3708Ser)
c.11198A>C (p.Tyr3733Ser)
c.11195A>C (p.Tyr3732Ser)
c.11120A>C (p.Tyr3707Ser)
c.10820A>C (p.Tyr3607Ser)
c.8084A>C (p.Tyr2695Ser)
c.6977A>C (p.Tyr2326Ser)
c.11003A>C (p.Tyr3668Ser)
c.6755A>C (p.Tyr2252Ser)
c.9983A>C (p.Tyr3328Ser)
8g.99861854A>GCA371790520VPS13Bc.*292A>G (n.*292A>G)
n.11268A>G
c.*6880A>G (n.*6880A>G)
c.11123A>G (p.Tyr3708Cys)
c.11198A>G (p.Tyr3733Cys)
c.11195A>G (p.Tyr3732Cys)
c.11120A>G (p.Tyr3707Cys)
c.10820A>G (p.Tyr3607Cys)
c.8084A>G (p.Tyr2695Cys)
c.6977A>G (p.Tyr2326Cys)
c.11003A>G (p.Tyr3668Cys)
c.6755A>G (p.Tyr2252Cys)
c.9983A>G (p.Tyr3328Cys)
 dbSNP
8g.99861854A>TCA371790522VPS13Bc.*292A>T (n.*292A>T)
n.11268A>T
c.*6880A>T (n.*6880A>T)
c.11123A>T (p.Tyr3708Phe)
c.11198A>T (p.Tyr3733Phe)
c.11195A>T (p.Tyr3732Phe)
c.11120A>T (p.Tyr3707Phe)
c.10820A>T (p.Tyr3607Phe)
c.8084A>T (p.Tyr2695Phe)
c.6977A>T (p.Tyr2326Phe)
c.11003A>T (p.Tyr3668Phe)
c.6755A>T (p.Tyr2252Phe)
c.9983A>T (p.Tyr3328Phe)
8g.99861855C>ACA371790524VPS13Bc.*293C>A (n.*293C>A)
n.11269C>A
c.*6881C>A (n.*6881C>A)
c.11124C>A (p.Tyr3708Ter)
c.11199C>A (p.Tyr3733Ter)
c.11196C>A (p.Tyr3732Ter)
c.11121C>A (p.Tyr3707Ter)
c.10821C>A (p.Tyr3607Ter)
c.8085C>A (p.Tyr2695Ter)
c.6978C>A (p.Tyr2326Ter)
c.11004C>A (p.Tyr3668Ter)
c.6756C>A (p.Tyr2252Ter)
c.9984C>A (p.Tyr3328Ter)
 gnomAD v4
8g.99861855C>GCA371790526VPS13Bc.*293C>G (n.*293C>G)
n.11269C>G
c.*6881C>G (n.*6881C>G)
c.11124C>G (p.Tyr3708Ter)
c.11199C>G (p.Tyr3733Ter)
c.11196C>G (p.Tyr3732Ter)
c.11121C>G (p.Tyr3707Ter)
c.10821C>G (p.Tyr3607Ter)
c.8085C>G (p.Tyr2695Ter)
c.6978C>G (p.Tyr2326Ter)
c.11004C>G (p.Tyr3668Ter)
c.6756C>G (p.Tyr2252Ter)
c.9984C>G (p.Tyr3328Ter)
 ClinVar dbSNP
8g.99861855C>TCA462338079VPS13Bc.*293C>T (n.*293C>T)
n.11269C>T
c.*6881C>T (n.*6881C>T)
c.11124C>T (p.Tyr3708=)
c.11199C>T (p.Tyr3733=)
c.11196C>T (p.Tyr3732=)
c.11121C>T (p.Tyr3707=)
c.10821C>T (p.Tyr3607=)
c.8085C>T (p.Tyr2695=)
c.6978C>T (p.Tyr2326=)
c.11004C>T (p.Tyr3668=)
c.6756C>T (p.Tyr2252=)
c.9984C>T (p.Tyr3328=)
 ClinVar dbSNP
8g.99861855_99861856delinsTCA16618724VPS13Bc.*293_*294delinsT (n.*293_*294delinsT)
n.11269_11270delinsT
c.*6881_*6882delinsT (n.*6881_*6882delinsT)
c.11124_11125delinsT (p.Asn3709ThrfsTer?)
c.11199_11200delinsT (p.Asn3734ThrfsTer?)
c.11196_11197delinsT (p.Asn3733ThrfsTer?)
c.11121_11122delinsT (p.Asn3708ThrfsTer?)
c.10821_10822delinsT (p.Asn3608ThrfsTer?)
c.8085_8086delinsT (p.Asn2696ThrfsTer?)
c.6978_6979delinsT (p.Asn2327ThrfsTer?)
c.11004_11005delinsT (p.Asn3669ThrfsTer?)
c.6756_6757delinsT (p.Asn2253ThrfsTer?)
c.9984_9985delinsT (p.Asn3329ThrfsTer?)
 ClinVar dbSNP
8g.99861856A>CCA371790529VPS13Bc.*294A>C (n.*294A>C)
n.11270A>C
c.*6882A>C (n.*6882A>C)
c.11125A>C (p.Asn3709His)
c.11200A>C (p.Asn3734His)
c.11197A>C (p.Asn3733His)
c.11122A>C (p.Asn3708His)
c.10822A>C (p.Asn3608His)
c.8086A>C (p.Asn2696His)
c.6979A>C (p.Asn2327His)
c.11005A>C (p.Asn3669His)
c.6757A>C (p.Asn2253His)
c.9985A>C (p.Asn3329His)
8g.99861856A>GCA371790531VPS13Bc.*294A>G (n.*294A>G)
n.11270A>G
c.*6882A>G (n.*6882A>G)
c.11125A>G (p.Asn3709Asp)
c.11200A>G (p.Asn3734Asp)
c.11197A>G (p.Asn3733Asp)
c.11122A>G (p.Asn3708Asp)
c.10822A>G (p.Asn3608Asp)
c.8086A>G (p.Asn2696Asp)
c.6979A>G (p.Asn2327Asp)
c.11005A>G (p.Asn3669Asp)
c.6757A>G (p.Asn2253Asp)
c.9985A>G (p.Asn3329Asp)
8g.99861856A>TCA371790532VPS13Bc.*294A>T (n.*294A>T)
n.11270A>T
c.*6882A>T (n.*6882A>T)
c.11125A>T (p.Asn3709Tyr)
c.11200A>T (p.Asn3734Tyr)
c.11197A>T (p.Asn3733Tyr)
c.11122A>T (p.Asn3708Tyr)
c.10822A>T (p.Asn3608Tyr)
c.8086A>T (p.Asn2696Tyr)
c.6979A>T (p.Asn2327Tyr)
c.11005A>T (p.Asn3669Tyr)
c.6757A>T (p.Asn2253Tyr)
c.9985A>T (p.Asn3329Tyr)
8g.99861857A>CCA371790534VPS13Bc.*295A>C (n.*295A>C)
n.11271A>C
c.*6883A>C (n.*6883A>C)
c.11126A>C (p.Asn3709Thr)
c.11201A>C (p.Asn3734Thr)
c.11198A>C (p.Asn3733Thr)
c.11123A>C (p.Asn3708Thr)
c.10823A>C (p.Asn3608Thr)
c.8087A>C (p.Asn2696Thr)
c.6980A>C (p.Asn2327Thr)
c.11006A>C (p.Asn3669Thr)
c.6758A>C (p.Asn2253Thr)
c.9986A>C (p.Asn3329Thr)
8g.99861857A>GCA371790536VPS13Bc.*295A>G (n.*295A>G)
n.11271A>G
c.*6883A>G (n.*6883A>G)
c.11126A>G (p.Asn3709Ser)
c.11201A>G (p.Asn3734Ser)
c.11198A>G (p.Asn3733Ser)
c.11123A>G (p.Asn3708Ser)
c.10823A>G (p.Asn3608Ser)
c.8087A>G (p.Asn2696Ser)
c.6980A>G (p.Asn2327Ser)
c.11006A>G (p.Asn3669Ser)
c.6758A>G (p.Asn2253Ser)
c.9986A>G (p.Asn3329Ser)
 gnomAD v4
8g.99861857A>TCA371790538VPS13Bc.*295A>T (n.*295A>T)
n.11271A>T
c.*6883A>T (n.*6883A>T)
c.11126A>T (p.Asn3709Ile)
c.11201A>T (p.Asn3734Ile)
c.11198A>T (p.Asn3733Ile)
c.11123A>T (p.Asn3708Ile)
c.10823A>T (p.Asn3608Ile)
c.8087A>T (p.Asn2696Ile)
c.6980A>T (p.Asn2327Ile)
c.11006A>T (p.Asn3669Ile)
c.6758A>T (p.Asn2253Ile)
c.9986A>T (p.Asn3329Ile)

Number of alleles fetched