| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.72106180G>A | CA251498 | LRRC51,LRTOMT,TOMT | c.229G>A (p.Glu77Lys) c.438-2425G>A (n.438-2425G>A) c.*47G>A (n.*47G>A) c.328G>A (p.Glu110Lys) c.208G>A (p.Glu70Lys) n.386G>A c.553G>A (p.Glu185Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.72106180G>C | CA381718249 | LRRC51,LRTOMT,TOMT | c.229G>C (p.Glu77Gln) c.438-2425G>C (n.438-2425G>C) c.*47G>C (n.*47G>C) c.328G>C (p.Glu110Gln) c.208G>C (p.Glu70Gln) n.386G>C c.553G>C (p.Glu185Gln) | dbSNP gnomAD v4 |
| 11 | g.72106180G= | CA1981839948 | LRRC51,LRTOMT,TOMT | c.229G= (p.Glu77=) c.438-2425G= (n.438-2425G=) c.*47G= (n.*47G=) c.328G= (p.Glu110=) c.208G= (p.Glu70=) n.386G= c.553G= (p.Glu185=) | dbSNP |