Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.43102345G>CCA376770625RETc.341G>C (p.Arg114Pro)
c.262G>C
c.243G>C
c.283G>C
c.240-126G>C
c.74-8862G>C (n.74-8862G>C)
c.74-9754G>C (n.74-9754G>C)
dbSNP
10g.43102345G>TCA376770624RETc.341G>T (p.Arg114Leu)
c.262G>T
c.243G>T
c.283G>T
c.240-126G>T
c.74-8862G>T (n.74-8862G>T)
c.74-9754G>T (n.74-9754G>T)
ClinVar dbSNP
10g.43102345G>ACA009235RETc.341G>A (p.Arg114His)
c.262G>A
c.243G>A
c.283G>A
c.240-126G>A
c.74-8862G>A (n.74-8862G>A)
c.74-9754G>A (n.74-9754G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
10g.43102345G=CA1905837657RETc.341G= (p.Arg114=)
c.262G=
c.243G=
c.283G=
c.240-126G=
c.74-8862G= (n.74-8862G=)
c.74-9754G= (n.74-9754G=)
dbSNP

Number of alleles fetched