| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43661285G>C | CA399904668 | MEOX1 | c.250C>G (p.Gln84Glu) c.-96C>G (n.-96C>G) c.162C>G (p.Ser54Arg) | dbSNP gnomAD v4 |
| 17 | g.43661285G>A | CA174982 | MEOX1 | c.250C>T (p.Gln84Ter) c.-96C>T (n.-96C>T) c.162C>T (p.Ser54=) | ClinVar dbSNP |
| 17 | g.43661285G>T | CA399904669 | MEOX1 | c.250C>A (p.Gln84Lys) c.-96C>A (n.-96C>A) c.162C>A (p.Ser54Arg) | dbSNP gnomAD v2 |