Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.15644520G>CCA278366BTDc.604G>C (p.Asp202His)
c.399+2463G>C (n.399+2463G>C)
c.165+2463G>C (n.165+2463G>C)
c.664G>C (p.Asp222His)
c.670G>C (p.Asp224His)
c.382G>C (p.Asp128His)
c.*2382G>C (n.*2382G>C)
dbSNP gnomAD v3 gnomAD v4
3g.15644520G>ACA2277359BTDc.604G>A (p.Asp202Asn)
c.399+2463G>A (n.399+2463G>A)
c.165+2463G>A (n.165+2463G>A)
c.664G>A (p.Asp222Asn)
c.670G>A (p.Asp224Asn)
c.382G>A (p.Asp128Asn)
c.*2382G>A (n.*2382G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched