| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 1-55527110-C-T | PCSK9 | c.1744C>T | p.Arg582* | Nonsense | 11/12 | - |
| 10-43601830-G-A | RET | c.874G>A | p.Val292Met | Missense | 5/20 | - |
| 3-38592986-C-A | SCN5A | c.4877G>T | p.Arg1626Leu | Missense | 28/28 | - |
| 3-38592986-C-T | SCN5A | c.4877G>A | p.Arg1626His | Missense | 28/28 | - |
| 3-38592386-C-T | SCN5A | c.5477G>A | p.Arg1826His | Missense | 28/28 | - |
| 13-32915033-G-T | BRCA2 | c.6541G>T | p.Gly2181* | Nonsense | 11/27 | - |
| 3-38592986-C-G | SCN5A | c.4877G>C | p.Arg1626Pro | Missense | 28/28 | - |
| 2-189861145-C-T | COL3A1 | c.1684C>T | p.Arg562* | Nonsense | 24/51 | - |
| 3-38645439-C-G | SCN5A | c.1654G>C | p.Gly552Arg | Missense | 12/28 | - |
| 3-38645439-C-T | SCN5A | c.1654G>A | p.Gly552Arg | Missense | 12/28 | - |
| 3-38640472-C-T | SCN5A | c.1960G>A | p.Glu654Lys | Missense | 13/28 | - |
| 1-45797760-T-C | MUTYH | c.925-2A>G | - | IntronicSNV | - | 10/15 |
| 1-201333442-CG-TA | TNNT2 | c.472_473delCGinsTA | p.Arg158* | Nonsense | 11/16 | - |
| 15-48888525-G-C | FBN1 | c.493C>G | p.Arg165Gly | Missense | 6/66 | - |
| 3-38622640-A-G | SCN5A | c.3010T>C | p.Cys1004Arg | Missense | 17/28 | - |