Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.16009093A>TCA10586321PROM1c.1157T>A (p.Leu386Ter)
c.*840T>A (n.*840T>A)
c.1130T>A (p.Leu377Ter)
c.1215T>A
c.923T>A (p.Leu308Ter)
c.950T>A (p.Leu317Ter)
c.884T>A (p.Leu295Ter)
ClinVar dbSNP gnomAD v3 gnomAD v4
4g.16009093A=CA1440917749PROM1c.1157T= (p.Leu386=)
c.*840T= (n.*840T=)
c.1130T= (p.Leu377=)
c.1215T=
c.923T= (p.Leu308=)
c.950T= (p.Leu317=)
c.884T= (p.Leu295=)
dbSNP
4g.16009093A>GCA356437215PROM1c.1157T>C (p.Leu386Ser)
c.*840T>C (n.*840T>C)
c.1130T>C (p.Leu377Ser)
c.1215T>C
c.923T>C (p.Leu308Ser)
c.950T>C (p.Leu317Ser)
c.884T>C (p.Leu295Ser)
dbSNP gnomAD v4

Number of alleles fetched