Table 2.
Chr. | Position | Ref. | Alt. | Gene | HGVS-c | HGVS-p |
---|---|---|---|---|---|---|
12 | 1,411,804 | C | A | NELFE | c.7G>T | p.Val3Leu |
23 | 50,457,119 | G | C | LEKR1 | c.206G>C | p.Arg69Thr |
32 | 5,299,068 | C | A | PRKG2 | c.1634+1G>T |
Chr. | Position | Ref. | Alt. | Gene | HGVS-c | HGVS-p |
---|---|---|---|---|---|---|
12 | 1,411,804 | C | A | NELFE | c.7G>T | p.Val3Leu |
23 | 50,457,119 | G | C | LEKR1 | c.206G>C | p.Arg69Thr |
32 | 5,299,068 | C | A | PRKG2 | c.1634+1G>T |