| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 1-55529187-G-A | PCSK9 | c.2009G>A | p.Gly670Glu | Missense | 12/12 | - |
| 1-62931632-C-A | DOCK7 | c.6119+8021G>T | - | IntronicSNV | - | 47/48 |
| 1-230294715-C-T | GALNT2 | c.127-19249C>T | - | IntronicSNV | - | 1/15 |
| 1-230326412-G-A | GALNT2 | c.220+12355G>A | - | IntronicSNV | - | 2/15 |
| 1-63118196-A-T | DOCK7 | c.389+1200T>A | - | IntronicSNV | - | 4/48 |
| 1-55526428-T-G | PCSK9 | c.1682-620T>G | - | IntronicSNV | - | 10/11 |
| 1-55526428-T-C | PCSK9 | c.1682-620T>C | - | IntronicSNV | - | 10/11 |
| 1-63118196-A-C | DOCK7 | c.389+1200T>G | - | IntronicSNV | - | 4/48 |
| 1-62996838-C-G | DOCK7 | c.3519-1721G>C | - | IntronicSNV | - | 28/48 |
| 1-62996838-C-T | DOCK7 | c.3519-1721G>A | - | IntronicSNV | - | 28/48 |
| 1-230283764-G-A | GALNT2 | c.127-30200G>A | - | IntronicSNV | - | 1/15 |
| 1-55518752-C-T | PCSK9 | c.799+288C>T | - | IntronicSNV | - | 5/11 |
| 1-230295691-G-A | GALNT2 | c.127-18273G>A | - | IntronicSNV | - | 1/15 |
| 11-10328298-G-A | ADM | c.*110G>A | - | 3-UTRSNV | 4/4 | - |
| 1-55526296-A-G | PCSK9 | c.1682-752A>G | - | IntronicSNV | - | 10/11 |
| 1-55526296-A-C | PCSK9 | c.1682-752A>C | - | IntronicSNV | - | 10/11 |
| 1-230294916-C-T | GALNT2 | c.127-19048C>T | - | IntronicSNV | - | 1/15 |
| 1-55505647-G-A | PCSK9 | c.137G>A | p.Arg46His | Missense | 1/12 | - |
| 1-62950858-C-T | DOCK7 | c.5415+2211G>A | - | IntronicSNV | - | 42/48 |
| 1-230237103-A-G | GALNT2 | c.126+33950A>G | - | IntronicSNV | - | 1/15 |
| 1-230294715-C-A | GALNT2 | c.127-19249C>A | - | IntronicSNV | - | 1/15 |