Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.75757422T>GCA8770580GALK1,ITGB4c.5285T>G (p.Leu1762Arg)
c.5336T>G (p.Leu1779Arg)
c.*22+612A>C (n.*22+612A>C)
c.5126T>G (p.Leu1709Arg)
c.292T>G
c.266-204T>G (n.266-204T>G)
n.254+612A>C
c.5495T>G (p.Leu1832Arg)
c.5600T>G (p.Leu1867Arg)
c.5441T>G (p.Leu1814Arg)
c.5390T>G (p.Leu1797Arg)
c.5231T>G (p.Leu1744Arg)
c.5291T>G (p.Leu1764Arg)
c.3440T>G (p.Leu1147Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.75757422T>CCA8770579GALK1,ITGB4c.5285T>C (p.Leu1762Pro)
c.5336T>C (p.Leu1779Pro)
c.*22+612A>G (n.*22+612A>G)
c.5126T>C (p.Leu1709Pro)
c.292T>C
c.266-204T>C (n.266-204T>C)
n.254+612A>G
c.5495T>C (p.Leu1832Pro)
c.5600T>C (p.Leu1867Pro)
c.5441T>C (p.Leu1814Pro)
c.5390T>C (p.Leu1797Pro)
c.5231T>C (p.Leu1744Pro)
c.5291T>C (p.Leu1764Pro)
c.3440T>C (p.Leu1147Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.75757422T>ACA401094910GALK1,ITGB4c.5285T>A (p.Leu1762Gln)
c.5336T>A (p.Leu1779Gln)
c.*22+612A>T (n.*22+612A>T)
c.5126T>A (p.Leu1709Gln)
c.292T>A
c.266-204T>A (n.266-204T>A)
n.254+612A>T
c.5495T>A (p.Leu1832Gln)
c.5600T>A (p.Leu1867Gln)
c.5441T>A (p.Leu1814Gln)
c.5390T>A (p.Leu1797Gln)
c.5231T>A (p.Leu1744Gln)
c.5291T>A (p.Leu1764Gln)
c.3440T>A (p.Leu1147Gln)
 dbSNP

Number of alleles fetched