| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 15-28530182-C-T | HERC2 | c.323-4749G>A | - | IntronicSNV | - | 4/92 |
| 15-28365618-A-G | HERC2 | c.13272+874T>C | - | IntronicSNV | - | 86/92 |
| 15-28530182-C-A | HERC2 | c.323-4749G>T | - | IntronicSNV | - | 4/92 |
| 19-8433196-C-A | ANGPTL4 | c.548-907C>A | - | IntronicSNV | - | 3/6 |
| 17-40527544-A-T | STAT3 | c.-2+12753T>A | - | intron_variant | - | 1/23 |
| 2-43732823-T-C | THADA | c.3559A>G | p.Thr1187Ala | Missense | 24/38 | - |
| 17-40527544-A-G | STAT3 | c.-2+12753T>C | - | intron_variant | - | 1/23 |
| 20-33819415-A-G | MMP24 | c.246+4628A>G | - | IntronicSNV | - | 1/8 |
| 2-43806918-C-T | THADA | c.722-1172G>A | - | IntronicSNV | - | 8/37 |
| 2-43553949-T-C | THADA | c.4344-6270A>G | - | IntronicSNV | - | 30/37 |
| 2-43540125-T-G | THADA | c.4438+7460A>C | - | IntronicSNV | - | 31/37 |
| 2-43587504-C-T | THADA | c.4228-16128G>A | - | IntronicSNV | - | 29/37 |
| 1-155878732-A-G | RIT1 | c.163+1509T>C | - | IntronicSNV | - | 3/5 |
| 15-28356859-C-T | HERC2 | c.*50G>A | - | 3-UTRSNV | 93/93 | - |
| 2-61204856-A-G | PUS10 | c.469-6164T>C | - | IntronicSNV | - | 4/17 |
| 15-75077367-C-A | CSK | c.-66+2306C>A | - | intron_variant | - | 1/12 |
| 1-1247494-T-C | INTS11 | c.1641A>G | p.Pro547Pro | Synonymous | 16/17 | - |
| 15-75077367-C-T | CSK | c.-66+2306C>T | - | intron_variant | - | 1/12 |
| 20-60921044-T-C | LAMA5 | c.1417+93A>G | - | IntronicSNV | - | 10/79 |
| 15-91521337-C-A | PRC1 | c.1107+1051G>T | - | IntronicSNV | - | 8/14 |
| 2-43638838-A-C | THADA | c.4059-13560T>G | - | IntronicSNV | - | 28/37 |
| 2-61186829-A-G | PUS10 | c.1000+698T>C | - | IntronicSNV | - | 11/17 |
| 12-111884608-T-G | SH2B3 | c.784T>G | p.Trp262Gly | Missense | 3/8 | - |
| 20-34025756-A-G | GDF5 | c.1-48T>C | - | 5-UTRSNV | 1/2 | - |
| 2-43687879-C-T | THADA | c.3836+24494G>A | - | IntronicSNV | - | 26/37 |
| 8-11045161-G-A | XKR6 | c.764+12924C>T | - | IntronicSNV | - | 1/2 |
| 8-11045161-G-T | XKR6 | c.764+12924C>A | - | IntronicSNV | - | 1/2 |
| 2-56111309-C-T | EFEMP1 | c.518-2440G>A | - | IntronicSNV | - | 5/11 |
| 2-135837906-C-A | RAB3GAP1 | c.151-10662C>A | - | IntronicSNV | - | 3/23 |
| 2-43721508-C-T | THADA | c.3744+4464G>A | - | IntronicSNV | - | 25/37 |
| 12-111904371-T-A | ATXN2 | c.2837-1852A>T | - | intron_variant | - | 20/24 |
| 1-1247494-T-A | INTS11 | c.1641A>T | p.Pro547Pro | Synonymous | 16/17 | - |
| 1-1247494-T-G | INTS11 | c.1641A>C | p.Pro547Pro | Synonymous | 16/17 | - |
| 12-112007756-C-T | ATXN2 | c.252-14033G>A | - | intron_variant | - | 1/24 |
| 11-46743247-T-C | F2 | c.316+857T>C | - | IntronicSNV | - | 4/13 |
| 15-28513364-T-C | HERC2 | c.1598+247A>G | - | IntronicSNV | - | 12/92 |
| 15-28513364-T-G | HERC2 | c.1598+247A>C | - | IntronicSNV | - | 12/92 |