Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.78702289C>TCA251319TENM4c.4324G>A (p.Ala1442Thr)
c.4372G>A (p.Ala1458Thr)
c.4351G>A (p.Ala1451Thr)
c.4297G>A (p.Ala1433Thr)
c.4273G>A (p.Ala1425Thr)
c.4168G>A (p.Ala1390Thr)
c.3211G>A (p.Ala1071Thr)
c.1825G>A (p.Ala609Thr)
c.1768G>A (p.Ala590Thr)
c.223G>A (p.Ala75Thr)
c.4399G>A (p.Ala1467Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.78702289C=CA1984821472TENM4c.4324G= (p.Ala1442=)
c.4372G= (p.Ala1458=)
c.4351G= (p.Ala1451=)
c.4297G= (p.Ala1433=)
c.4273G= (p.Ala1425=)
c.4168G= (p.Ala1390=)
c.3211G= (p.Ala1071=)
c.1825G= (p.Ala609=)
c.1768G= (p.Ala590=)
c.223G= (p.Ala75=)
c.4399G= (p.Ala1467=)
dbSNP

Number of alleles fetched