| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.89776742A>G | CA7730414 | MESP2 | c.385A>G (p.Ile129Val) n.39-1323A>G c.31-1323A>G (n.31-1323A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89776742A>T | CA343158 | MESP2 | c.385A>T (p.Ile129Phe) n.39-1323A>T c.31-1323A>T (n.31-1323A>T) | ClinVar dbSNP gnomAD v4 |
| 15 | g.89776742A>C | CA393769964 | MESP2 | c.385A>C (p.Ile129Leu) n.39-1323A>C c.31-1323A>C (n.31-1323A>C) | dbSNP gnomAD v4 |
| 15 | g.89776742A= | CA2194780875 | MESP2 | c.385A= (p.Ile129=) n.39-1323A= c.31-1323A= (n.31-1323A=) | dbSNP |