| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 11-116619051-G-A | BUD13 | c.*147C>T | - | 3-UTRSNV | 10/10 | - |
| 11-116653296-C-G | ZPR1 | c.1093-336G>C | - | IntronicSNV | - | 11/13 |
| 11-116653296-C-T | ZPR1 | c.1093-336G>A | - | IntronicSNV | - | 11/13 |
| 11-116643617-C-T | BUD13 | c.64G>A | p.Ala22Thr | Missense | 1/10 | - |
| 11-116634557-T-C | BUD13 | c.323-575A>G | - | IntronicSNV | - | 3/9 |
| 11-116624703-G-T | BUD13 | c.1766+3159C>A | - | IntronicSNV | - | 9/9 |
| 11-116639104-A-T | BUD13 | c.237+1741T>A | - | IntronicSNV | - | 2/9 |
| 11-116639104-A-G | BUD13 | c.237+1741T>C | - | IntronicSNV | - | 2/9 |
| 11-116643617-C-A | BUD13 | c.64G>T | p.Ala22Ser | Missense | 1/10 | - |
| 11-116741572-A-C | SIK3 | c.1738-455T>G | - | intron_variant | - | 13/23 |
| 11-116654159-A-G | ZPR1 | c.981+87T>C | - | IntronicSNV | - | 10/13 |