Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.27084901G>TCA1240109526EMILIN1c.2558-90G>T (n.2558-90G>T)
c.550-90G>T
dbSNP gnomAD v4
2g.27084901G>CCA11061185EMILIN1c.2558-90G>C (n.2558-90G>C)
c.550-90G>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27084901G>ACA1240109528EMILIN1c.2558-90G>A (n.2558-90G>A)
c.550-90G>A
dbSNP gnomAD v4

Number of alleles fetched