| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.112432129T>A | CA357900599 | ALPK1 | c.2582T>A (p.Met861Lys) c.2348T>A (p.Met783Lys) n.3070T>A c.900+2876T>A (n.900+2876T>A) c.*2025T>A (n.*2025T>A) c.2522T>A (p.Met841Lys) c.2600T>A (p.Met867Lys) c.2540T>A (p.Met847Lys) c.2531T>A (p.Met844Lys) c.2477T>A (p.Met826Lys) c.2366T>A (p.Met789Lys) c.1976T>A (p.Met659Lys) c.1958T>A (p.Met653Lys) | dbSNP |
| 4 | g.112432129T>C | CA3046943 | ALPK1 | c.2582T>C (p.Met861Thr) c.2348T>C (p.Met783Thr) n.3070T>C c.900+2876T>C (n.900+2876T>C) c.*2025T>C (n.*2025T>C) c.2522T>C (p.Met841Thr) c.2600T>C (p.Met867Thr) c.2540T>C (p.Met847Thr) c.2531T>C (p.Met844Thr) c.2477T>C (p.Met826Thr) c.2366T>C (p.Met789Thr) c.1976T>C (p.Met659Thr) c.1958T>C (p.Met653Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.112432129T= | CA1485942491 | ALPK1 | c.2582T= (p.Met861=) c.2348T= (p.Met783=) n.3070T= c.900+2876T= (n.900+2876T=) c.*2025T= (n.*2025T=) c.2522T= (p.Met841=) c.2600T= (p.Met867=) c.2540T= (p.Met847=) c.2531T= (p.Met844=) c.2477T= (p.Met826=) c.2366T= (p.Met789=) c.1976T= (p.Met659=) c.1958T= (p.Met653=) | dbSNP |