Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.147758554G>TCA128545GJA5c.685C>A (p.Leu229Met)
n.434-19007G>T
n.744-19007G>T
ClinVar dbSNP
1g.147758554G>ACA420610759GJA5c.685C>T (p.Leu229=)
n.434-19007G>A
n.744-19007G>A
ClinVar dbSNP gnomAD v4

Number of alleles fetched