Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.47274439C>T | CA8622852 | ITGB3 | c.100C>T (p.Arg34Ter) c.65C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47274439C>A | CA500441673 | ITGB3 | c.100C>A (p.Arg34=) c.65C>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.47274439C= | CA2262601108 | ITGB3 | c.100C= (p.Arg34=) c.65C= | dbSNP |
17 | g.47274439C>G | CA400031620 | ITGB3 | c.100C>G (p.Arg34Gly) c.65C>G | dbSNP |