Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.61801348C>GCA157735BRIP1c.538G>C (p.Ala180Pro)
c.1045G>C (p.Ala349Pro)
n.2786G>C
c.919-2049G>C (n.919-2049G>C)
c.623G>C (n.623G>C)
c.562G>C (p.Ala188Pro)
c.502G>C (p.Ala168Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.61801348C>ACA10580847BRIP1c.538G>T (p.Ala180Ser)
c.1045G>T (p.Ala349Ser)
n.2786G>T
c.919-2049G>T (n.919-2049G>T)
c.623G>T (n.623G>T)
c.562G>T (p.Ala188Ser)
c.502G>T (p.Ala168Ser)
ClinVar dbSNP gnomAD v4
17g.61801348C>TCA16607753BRIP1c.538G>A (p.Ala180Thr)
c.1045G>A (p.Ala349Thr)
n.2786G>A
c.919-2049G>A (n.919-2049G>A)
c.623G>A (n.623G>A)
c.562G>A (p.Ala188Thr)
c.502G>A (p.Ala168Thr)
ClinVar dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched