Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.11970750G>CCA281017PLOD1c.1836G>C (p.Trp612Cys)
n.383+3659G>C
c.1977G>C (p.Trp659Cys)
c.1917G>C (p.Trp639Cys)
c.1170G>C (p.Trp390Cys)
ClinVar dbSNP
1g.11970750G>ACA338450087PLOD1c.1836G>A (p.Trp612Ter)
n.383+3659G>A
c.1977G>A (p.Trp659Ter)
c.1917G>A (p.Trp639Ter)
c.1170G>A (p.Trp390Ter)
dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched