Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.509717C>A | CA2317142380 | TPGS1 | c.338+1873C>A (n.338+1873C>A) n.2218C>A | dbSNP gnomAD v4 |
19 | g.509717C>G | CA883244131 | TPGS1 | c.338+1873C>G (n.338+1873C>G) n.2218C>G | dbSNP |
19 | g.509717C>T | CA14630436 | TPGS1 | c.338+1873C>T (n.338+1873C>T) n.2218C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |