Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.28725099A>CCA10588724CHEK2c.599T>G (p.Ile200Ser)
c.-308T>G (p.=)
c.470T>G (p.Ile157Ser)
n.629T>G (p.Ile210Ser)
c.629T>G (p.Ile210Ser)
c.573+144T>G (p.=)
n.474+144T>G (p.=)
c.444+144T>G (p.=)
c.-194T>G (p.=)
n.691T>G
n.686T>G
c.474+144T>G (p.=)
c.593T>G (p.Ile198Ser)
c.500T>G (p.Ile167Ser)
n.702T>G
n.470T>G (p.Ile157Ser)
n.320-5614T>G (p.=)
c.563T>G (p.Ile188Ser)
n.32T>G (p.Ile11Ser)
n.444+144T>G (p.=)
n.588T>G (p.=)
ClinVar dbSNP
22g.28725099A>GCA117630CHEK2c.599T>C (p.Ile200Thr)
c.-308T>C (p.=)
c.470T>C (p.Ile157Thr)
n.629T>C (p.Ile210Thr)
c.629T>C (p.Ile210Thr)
c.573+144T>C (p.=)
n.474+144T>C (p.=)
c.444+144T>C (p.=)
c.-194T>C (p.=)
n.691T>C
n.686T>C
c.474+144T>C (p.=)
c.593T>C (p.Ile198Thr)
c.500T>C (p.Ile167Thr)
n.702T>C
n.470T>C (p.Ile157Thr)
n.320-5614T>C (p.=)
c.563T>C (p.Ile188Thr)
n.32T>C (p.Ile11Thr)
n.444+144T>C (p.=)
n.588T>C (p.=)
ClinVar dbSNP ExAC gnomAD COSMIC

Number of alleles fetched