Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.29674882G>TCA021321NF2c.1387G>T (p.Glu463Ter)
c.1261G>T (p.Glu421Ter)
c.1264G>T (p.Glu422Ter)
c.1138G>T (p.Glu380Ter)
c.448-19870G>T (p.=)
n.1946G>T
c.1273G>T (p.Glu425Ter)
n.1387G>T (p.Glu463Ter)
n.1261G>T (p.Glu421Ter)
c.1300G>T (p.Glu434Ter)
c.569G>T (p.Arg190Leu)
ClinVar dbSNP
22g.29674882G>ACA029905NF2c.1387G>A (p.Glu463Lys)
c.1261G>A (p.Glu421Lys)
c.1264G>A (p.Glu422Lys)
c.1138G>A (p.Glu380Lys)
c.448-19870G>A (p.=)
n.1946G>A
c.1273G>A (p.Glu425Lys)
n.1387G>A (p.Glu463Lys)
n.1261G>A (p.Glu421Lys)
c.1300G>A (p.Glu434Lys)
c.569G>A (p.Arg190Gln)
ClinVar dbSNP ExAC gnomAD COSMIC

Number of alleles fetched