| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.103100448C>T | CA7361825 | EXOC3L4 | c.229C>T (p.Arg77Trp) c.121C>T (p.Arg41Trp) c.403C>T (p.Arg135Trp) c.340C>T (p.Arg114Trp) n.958C>T n.985C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.103100448C= | CA2160140070 | EXOC3L4 | c.229C= (p.Arg77=) c.121C= (p.Arg41=) c.403C= (p.Arg135=) c.340C= (p.Arg114=) n.958C= n.985C= | dbSNP |
| 14 | g.103100448C>A | CA488193892 | EXOC3L4 | c.229C>A (p.Arg77=) c.121C>A (p.Arg41=) c.403C>A (p.Arg135=) c.340C>A (p.Arg114=) n.958C>A n.985C>A | dbSNP gnomAD v4 |
| 14 | g.103100448C>G | CA391081618 | EXOC3L4 | c.229C>G (p.Arg77Gly) c.121C>G (p.Arg41Gly) c.403C>G (p.Arg135Gly) c.340C>G (p.Arg114Gly) n.958C>G n.985C>G | dbSNP |