| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.89211750A>T | CA122840 | RLBP1 | c.677T>A (p.Met226Lys) c.94T>A c.*255T>A (n.*255T>A) c.602T>A (p.Met201Lys) c.704T>A (p.Met235Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89211750A= | CA2194510183 | RLBP1 | c.677T= (p.Met226=) c.94T= c.*255T= (n.*255T=) c.602T= (p.Met201=) c.704T= (p.Met235=) | dbSNP |
| 15 | g.89211750A>G | CA393728976 | RLBP1 | c.677T>C (p.Met226Thr) c.94T>C c.*255T>C (n.*255T>C) c.602T>C (p.Met201Thr) c.704T>C (p.Met235Thr) | dbSNP gnomAD v4 |
| 15 | g.89211750A>C | CA393728975 | RLBP1 | c.677T>G (p.Met226Arg) c.94T>G c.*255T>G (n.*255T>G) c.602T>G (p.Met201Arg) c.704T>G (p.Met235Arg) | dbSNP gnomAD v4 |