Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.80113350C>TCA116598GAAc.2173C>T (p.Arg725Trp)
c.*311C>T (n.*311C>T)
c.592C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17g.80113350C>ACA502179275GAAc.2173C>A (p.Arg725=)
c.*311C>A (n.*311C>A)
c.592C>A
dbSNP gnomAD v4

Number of alleles fetched