Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.58279141A>GCA116385MPOn.27T>C
c.38T>C (p.Met13Thr)
c.752T>C (p.Met251Thr)
n.177T>C
c.938T>C (p.Met313Thr)
c.467T>C (p.Met156Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.58279141A>TCA400374189MPOn.27T>A
c.38T>A (p.Met13Lys)
c.752T>A (p.Met251Lys)
n.177T>A
c.938T>A (p.Met313Lys)
c.467T>A (p.Met156Lys)
dbSNP
17g.58279141A=CA2267633976MPOn.27T=
c.38T= (p.Met13=)
c.752T= (p.Met251=)
n.177T=
c.938T= (p.Met313=)
c.467T= (p.Met156=)
dbSNP

Number of alleles fetched