| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.160047246A>T | CA452890136 | IGF2R | c.2139A>T (p.Thr713=) c.*247A>T (n.*247A>T) n.2154A>T | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.160047246A>G | CA4081828 | IGF2R | c.2139A>G (p.Thr713=) c.*247A>G (n.*247A>G) n.2154A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.160047246A= | CA1676881090 | IGF2R | c.2139A= (p.Thr713=) c.*247A= (n.*247A=) n.2154A= | dbSNP |
| 6 | g.160047246A>C | CA452890135 | IGF2R | c.2139A>C (p.Thr713=) c.*247A>C (n.*247A>C) n.2154A>C | dbSNP |