Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.197435162T>GCA117707CRB1c.3299T>G (p.Ile1100Arg)
c.2180T>G (p.Ile727Arg)
c.1442T>G (p.Ile481Arg)
c.2963T>G (p.Ile988Arg)
c.3227T>G (p.Ile1076Arg)
c.2129-438T>G (n.2129-438T>G)
n.3300T>G
n.3508T>G
c.2717T>G (p.Ile906Arg)
c.1742T>G (p.Ile581Arg)
c.2456T>G (p.Ile819Arg)
c.3434T>G (p.Ile1145Arg)
n.3252T>G
n.3460T>G
ClinVar dbSNP
1g.197435162T>CCA228035CRB1c.3299T>C (p.Ile1100Thr)
c.2180T>C (p.Ile727Thr)
c.1442T>C (p.Ile481Thr)
c.2963T>C (p.Ile988Thr)
c.3227T>C (p.Ile1076Thr)
c.2129-438T>C (n.2129-438T>C)
n.3300T>C
n.3508T>C
c.2717T>C (p.Ile906Thr)
c.1742T>C (p.Ile581Thr)
c.2456T>C (p.Ile819Thr)
c.3434T>C (p.Ile1145Thr)
n.3252T>C
n.3460T>C
ClinVar dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched