Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.139562013T>CCA255420F9c.1328T>C (p.Ile443Thr)
n.1723+272T>C
c.1214T>C (p.Ile405Thr)
c.1199T>C (p.Ile400Thr)
ClinVar dbSNP gnomAD v4
Xg.139562013T=CA2461412294F9c.1328T= (p.Ile443=)
n.1723+272T=
c.1214T= (p.Ile405=)
c.1199T= (p.Ile400=)
dbSNP

Number of alleles fetched