| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 4-156638347-G-A | GUCY1A1 | c.1609G>A | p.G537R | Missense | 8/10 | - |
| 7-44555727-A-T | NPC1L1 | c.3589T>A | p.W1197R | Missense | 17/19 | - |
| 7-44555727-A-G | NPC1L1 | c.3589T>C | p.W1197R | Missense | 17/19 | - |
| 4-156638347-G-C | GUCY1A1 | c.1609G>C | p.G537R | Missense | 8/10 | - |
| 1-222823529-A-C | MIA3 | c.3632-105A>C | - | IntronicSNV | - | 8/27 |
| 8-19813180-G-A | LPL | c.776-172G>A | - | IntronicSNV | - | 5/9 |
| 15-91416550-C-A | FURIN | c.1-2421C>A | - | IntronicSNV | - | 1/15 |
| 15-91416550-C-G | FURIN | c.1-2421C>G | - | IntronicSNV | - | 1/15 |
| 6-39174922-T-C | KCNK5 | c.187-11159A>G | - | IntronicSNV | - | 1/4 |
| 13-28973621-G-A | FLT1 | c.1552-2416C>T | - | IntronicSNV | - | 11/29 |
| 2-44073881-T-C | ABCG8 | c.322+431T>C | - | IntronicSNV | - | 3/12 |
| 1-56962821-A-G | PLPP3 | c.811-473T>C | - | IntronicSNV | - | 5/5 |
| 6-161143608-T-C | PLG | c.1256+9T>C | - | IntronicSNV | - | 10/18 |
| 6-161143608-T-G | PLG | c.1256+9T>G | - | IntronicSNV | - | 10/18 |
| 6-12927544-C-G | PHACTR1 | c.251-126053C>G | - | IntronicSNV | - | 4/14 |
| 15-67455630-C-T | SMAD3 | c.207-1603C>T | - | IntronicSNV | - | 1/8 |
| 3-138119952-T-C | MRAS | c.527+497T>C | - | IntronicSNV | - | 5/5 |
| 14-100133942-T-A | HHIPL1 | c.1649-617T>A | - | IntronicSNV | - | 6/8 |
| 14-100133942-T-C | HHIPL1 | c.1649-617T>C | - | IntronicSNV | - | 6/8 |
| 10-30335122-T-C | KIAA1462 | c.281+1339A>G | - | IntronicSNV | - | 2/3 |
| 5-131667353-A-G | SLC22A4 | c.952-96A>G | - | IntronicSNV | - | 5/9 |
| 4-156635309-G-A | GUCY1A3 | c.1572+574G>A | - | IntronicSNV | - | 7/9 |
| 1-154422067-T-C | IL6R | c.997-320T>C | - | IntronicSNV | - | 7/9 |
| 1-222823529-A-G | MIA3 | c.3632-105A>G | - | IntronicSNV | - | 8/27 |
| 1-222823529-A-T | MIA3 | c.3632-105A>T | - | IntronicSNV | - | 8/27 |
| 13-110960712-A-G | COL4A2 | c.99+242A>G | - | IntronicSNV | - | 3/47 |
| 6-35034800-G-C | ANKS1A | c.2184+6770G>C | - | IntronicSNV | - | 13/23 |
| 17-46988597-C-T | UBE2Z | c.390+355C>T | - | IntronicSNV | - | 2/6 |
| 10-104719096-G-A | CNNM2 | c.1621+39238G>A | - | IntronicSNV | - | 1/7 |
| 7-150690176-C-T | NOS3 | c.1-716C>T | - | IntronicSNV | - | 1/26 |
| 12-121416650-A-C | HNF1A | c.79A>C | p.I27L | Missense | 1/10 | - |
| 15-79089111-A-G | ADAMTS7 | c.640T>C | p.S214P | Missense | 4/24 | - |
| 20-33764554-A-G | PROCR | c.655A>G | p.S219G | Missense | 4/4 | - |
| 7-129663496-C-T | ZC3HC1 | c.1088G>A | p.R363H | Missense | 8/10 | - |
| 1-55512222-C-G | PCSK9 | c.426C>G | p.Y142* | Nonsense | 3/12 | - |
| 1-55529215-C-A | PCSK9 | c.2037C>A | p.C679* | Nonsense | 12/12 | - |
| 1-55512222-C-A | PCSK9 | c.426C>A | p.Y142* | Nonsense | 3/12 | - |
| 10-91002927-C-T | LIPA | c.229+2506G>A | - | IntronicSNV | - | 3/9 |
| 2-203745885-T-C | WDR12 | c.1195-225A>G | - | IntronicSNV | - | 12/12 |
| 19-11163601-G-T | SMARCA4 | c.4425-5330G>T | - | IntronicSNV | - | 30/34 |
| 1-55518073-T-C | PCSK9 | c.646T>C | p.F216L | Missense | 4/12 | - |
| 17-2126504-G-C | SMG6 | c.2869+13282C>G | - | IntronicSNV | - | 10/18 |
| 1-55509689-T-G | PCSK9 | c.381T>G | p.S127R | Missense | 2/12 | - |
| 1-55509689-T-A | PCSK9 | c.381T>A | p.S127R | Missense | 2/12 | - |
| 1-55509687-A-C | PCSK9 | c.379A>C | p.S127R | Missense | 2/12 | - |
| 1-55518075-C-A | PCSK9 | c.648C>A | p.F216L | Missense | 4/12 | - |
| 1-55518075-C-G | PCSK9 | c.648C>G | p.F216L | Missense | 4/12 | - |
| 8-19805708-G-A | LPL | c.106G>A | p.D36N | Missense | 2/10 | - |
| 10-88635779-C-A | BMPR1A | c.4C>A | p.P2T | Missense | 3/13 | - |
| 9-113169775-T-C | SVEP1 | c.8105A>G | p.D2702G | Missense | 38/48 | - |
| 2-203765756-T-C | WDR12 | c.223A>G | p.I75V | Missense | 3/13 | - |
| 11-9751196-G-C | SWAP70 | c.898+198G>C | - | IntronicSNV | - | 6/11 |
| 4-57838583-G-T | NOA1 | c.1515+731C>A | - | IntronicSNV | - | 3/6 |
| 20-33565755-G-A | MYH7B | c.73G>A | p.A25T | Missense | 5/45 | - |
| 11-9751196-G-A | SWAP70 | c.898+198G>A | - | IntronicSNV | - | 6/11 |
| 17-59013488-T-A | BCAS3 | c.1088-11092T>A | - | IntronicSNV | - | 13/23 |
| 17-59013488-T-C | BCAS3 | c.1088-11092T>C | - | IntronicSNV | - | 13/23 |
| 12-118265441-T-G | KSR2 | c.472+27792A>C | - | intron_variant | - | 3/19 |
| 1-201869257-G-A | LMOD1 | c.884C>T | p.T295M | Missense | 2/3 | - |
| 17-17896205-C-T | DRC3 | c.571C>T | p.R191W | Missense | 6/14 | - |