| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.89210794G>A | CA122839 | RLBP1 | c.700C>T (p.Arg234Trp) c.102-30C>T c.*278C>T (n.*278C>T) c.625C>T (p.Arg209Trp) c.727C>T (p.Arg243Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89210794G>C | CA393728912 | RLBP1 | c.700C>G (p.Arg234Gly) c.102-30C>G c.*278C>G (n.*278C>G) c.625C>G (p.Arg209Gly) c.727C>G (p.Arg243Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89210794G= | CA2194508455 | RLBP1 | c.700C= (p.Arg234=) c.102-30C= c.*278C= (n.*278C=) c.625C= (p.Arg209=) c.727C= (p.Arg243=) | dbSNP |
| 15 | g.89210794G>T | CA492075527 | RLBP1 | c.700C>A (p.Arg234=) c.102-30C>A c.*278C>A (n.*278C>A) c.625C>A (p.Arg209=) c.727C>A (p.Arg243=) | dbSNP gnomAD v4 |