| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.43046583C>T | CA236262 | CUL7,KLC4 | n.303G>A c.2416G>A (p.Glu806Lys) n.2977G>A c.*529G>A (n.*529G>A) n.2699G>A n.2993G>A c.365G>A n.3071G>A c.2512G>A (p.Glu838Lys) c.908G>A c.-553+3075C>T (n.-553+3075C>T) c.2668G>A (p.Glu890Lys) c.2572G>A (p.Glu858Lys) c.277G>A (p.Glu93Lys) c.2695G>A (p.Glu899Lys) c.2599G>A (p.Glu867Lys) c.2539G>A (p.Glu847Lys) c.2443G>A (p.Glu815Lys) c.2677-176G>A (n.2677-176G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.43046583C>G | CA364215654 | CUL7,KLC4 | n.303G>C c.2416G>C (p.Glu806Gln) n.2977G>C c.*529G>C (n.*529G>C) n.2699G>C n.2993G>C c.365G>C n.3071G>C c.2512G>C (p.Glu838Gln) c.908G>C c.-553+3075C>G (n.-553+3075C>G) c.2668G>C (p.Glu890Gln) c.2572G>C (p.Glu858Gln) c.277G>C (p.Glu93Gln) c.2695G>C (p.Glu899Gln) c.2599G>C (p.Glu867Gln) c.2539G>C (p.Glu847Gln) c.2443G>C (p.Glu815Gln) c.2677-176G>C (n.2677-176G>C) | dbSNP gnomAD v4 |
| 6 | g.43046583C= | CA1624356482 | CUL7,KLC4 | n.303G= c.2416G= (p.Glu806=) n.2977G= c.*529G= (n.*529G=) n.2699G= n.2993G= c.365G= n.3071G= c.2512G= (p.Glu838=) c.908G= c.-553+3075C= (n.-553+3075C=) c.2668G= (p.Glu890=) c.2572G= (p.Glu858=) c.277G= (p.Glu93=) c.2695G= (p.Glu899=) c.2599G= (p.Glu867=) c.2539G= (p.Glu847=) c.2443G= (p.Glu815=) c.2677-176G= (n.2677-176G=) | dbSNP |