Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.147758986C>ACA1065806GJA5c.253G>T (p.Val85Phe)
n.434-18575C>A
n.744-18575C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.147758986C>TCA128543GJA5c.253G>A (p.Val85Ile)
n.434-18575C>T
n.744-18575C>T
 ClinVar dbSNP

Number of alleles fetched