Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.89284930G>ACA227526TYRc.1342G>A (p.Asp448Asn)
c.1342G>A
n.2456+1104C>T
n.2457+1104C>T
n.340G>A
ClinVar dbSNP ExAC gnomAD
11g.89284930G>CCA6221409TYRc.1342G>C (p.Asp448His)
c.1342G>C
n.2456+1104C>G
n.2457+1104C>G
n.340G>C
dbSNP ExAC gnomAD

Number of alleles fetched