Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.123704670T>ACA210283TCTN2c.1751T>A (p.Ile584Lys)
c.1748T>A (p.Ile583Lys)
n.852T>A
c.*123T>A (n.*123T>A)
c.1616T>A (p.Ile539Lys)
n.2523T>A
c.839T>A (p.Ile280Lys)
c.1613T>A (p.Ile538Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.123704670T>CCA387147836TCTN2c.1751T>C (p.Ile584Thr)
c.1748T>C (p.Ile583Thr)
n.852T>C
c.*123T>C (n.*123T>C)
c.1616T>C (p.Ile539Thr)
n.2523T>C
c.839T>C (p.Ile280Thr)
c.1613T>C (p.Ile538Thr)
ClinVar dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched