| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.89215133C>G | CA7722279 | RLBP1 | c.452G>C (p.Arg151Pro) c.*30G>C (n.*30G>C) c.377G>C (p.Arg126Pro) c.479G>C (p.Arg160Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89215133C>T | CA122838 | RLBP1 | c.452G>A (p.Arg151Gln) c.*30G>A (n.*30G>A) c.377G>A (p.Arg126Gln) c.479G>A (p.Arg160Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89215133C= | CA2194515046 | RLBP1 | c.452G= (p.Arg151=) c.*30G= (n.*30G=) c.377G= (p.Arg126=) c.479G= (p.Arg160=) | dbSNP |