Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.60838255G>ACA16618671CHD7c.4533G>A (p.Lys1511=)
c.1717-23974G>A (n.1717-23974G>A)
c.2520G>A (p.Lys840=)
c.2070G>A (p.Lys690=)
c.1278G>A (p.Lys426=)
ClinVar dbSNP
8g.60838255G>TCA371318444CHD7c.4533G>T (p.Lys1511Asn)
c.1717-23974G>T (n.1717-23974G>T)
c.2520G>T (p.Lys840Asn)
c.2070G>T (p.Lys690Asn)
c.1278G>T (p.Lys426Asn)
dbSNP gnomAD v4

Number of alleles fetched