Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.50198170delCA260320COL1A1c.579del (p.Gly194ValfsTer?)
n.306del
 ClinVar dbSNP gnomAD v4
17g.50198170A=CA2263920143COL1A1c.579T= (p.Pro193=)
n.306T=
 dbSNP

Number of alleles fetched