Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.99274273C>TCA371862254VPS13Bc.2591C>T (p.Ser864Leu)
n.2468C>T
n.2661C>T
n.2657C>T
n.2763C>T
n.2672C>T
c.2213C>T (p.Ser738Leu)
n.2694C>T
c.2396C>T (p.Ser799Leu)
c.1376C>T (p.Ser459Leu)
dbSNP
8g.99274273C>ACA223406VPS13Bc.2591C>A (p.Ser864Ter)
n.2468C>A
n.2661C>A
n.2657C>A
n.2763C>A
n.2672C>A
c.2213C>A (p.Ser738Ter)
n.2694C>A
c.2396C>A (p.Ser799Ter)
c.1376C>A (p.Ser459Ter)
ClinVar dbSNP ExAC gnomAD v3 gnomAD v4

Number of alleles fetched