| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.77856847T>C | CA5570426 | DLG5 | c.419A>G (p.Gln140Arg) c.194A>G (p.Gln65Arg) n.93+12252A>G c.242A>G (p.Gln81Arg) c.149A>G (p.Gln50Arg) c.89A>G (p.Gln30Arg) c.83A>G (p.Gln28Arg) c.-47A>G (n.-47A>G) n.450A>G c.137A>G (p.Gln46Arg) n.461A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.77856847T>A | CA377336794 | DLG5 | c.419A>T (p.Gln140Leu) c.194A>T (p.Gln65Leu) n.93+12252A>T c.242A>T (p.Gln81Leu) c.149A>T (p.Gln50Leu) c.89A>T (p.Gln30Leu) c.83A>T (p.Gln28Leu) c.-47A>T (n.-47A>T) n.450A>T c.137A>T (p.Gln46Leu) n.461A>T | dbSNP gnomAD v4 |
| 10 | g.77856847T>G | CA377336797 | DLG5 | c.419A>C (p.Gln140Pro) c.194A>C (p.Gln65Pro) n.93+12252A>C c.242A>C (p.Gln81Pro) c.149A>C (p.Gln50Pro) c.89A>C (p.Gln30Pro) c.83A>C (p.Gln28Pro) c.-47A>C (n.-47A>C) n.450A>C c.137A>C (p.Gln46Pro) n.461A>C | dbSNP |