Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.127426207C>ACA428618351PROCc.658C>A (p.Arg220=)
c.121-2150C>A
c.760C>A (p.Arg254=)
n.244C>A
c.841C>A (p.Arg281=)
c.823C>A (p.Arg275=)
c.721C>A (p.Arg241=)
c.901C>A (p.Arg301=)
c.1003C>A (p.Arg335=)
c.943C>A (p.Arg315=)
n.4378G>T
c.826C>A (p.Arg276=)
c.844C>A (p.Arg282=)
c.601C>A (p.Arg201=)
c.634C>A (p.Arg212=)
c.652C>A (p.Arg218=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.127426207C>TCA114410PROCc.658C>T (p.Arg220Trp)
c.121-2150C>T
c.760C>T (p.Arg254Trp)
n.244C>T
c.841C>T (p.Arg281Trp)
c.823C>T (p.Arg275Trp)
c.721C>T (p.Arg241Trp)
c.901C>T (p.Arg301Trp)
c.1003C>T (p.Arg335Trp)
c.943C>T (p.Arg315Trp)
n.4378G>A
c.826C>T (p.Arg276Trp)
c.844C>T (p.Arg282Trp)
c.601C>T (p.Arg201Trp)
c.634C>T (p.Arg212Trp)
c.652C>T (p.Arg218Trp)
ClinVar dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched