Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.44320424C>ACA127835PREPL,SLC3A1c.1843C>A (p.Pro615Thr)
c.*932G>T (n.*932G>T)
c.1009C>A (p.Pro337Thr)
c.736C>A (p.Pro246Thr)
c.425G>T (n.425G>T)
c.*1005G>T (n.*1005G>T)
c.*2229C>A (n.*2229C>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.44320424C>TCA346687165PREPL,SLC3A1c.1843C>T (p.Pro615Ser)
c.*932G>A (n.*932G>A)
c.1009C>T (p.Pro337Ser)
c.736C>T (p.Pro246Ser)
c.425G>A (n.425G>A)
c.*1005G>A (n.*1005G>A)
c.*2229C>T (n.*2229C>T)
dbSNP gnomAD v2 COSMIC

Number of alleles fetched