| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 1-55505647-G-A | PCSK9 | c.137G>A | p.R46H | Missense | 1/12 | - |
| 15-28344238-A-G | OCA2 | c.-22+132T>C | - | intron_variant | - | 1/23 |
| 1-55529215-C-A | PCSK9 | c.2037C>A | p.C679* | Nonsense | 12/12 | - |
| 9-107620835-G-A | ABCA1 | c.688C>T | p.R230C | Missense | 7/50 | - |
| 1-55512222-C-G | PCSK9 | c.426C>G | p.Y142* | Nonsense | 3/12 | - |
| 12-117002658-G-A | MAP1LC3B2 | c.-102+5420G>A | - | intron_variant | - | 1/1 |
| 6-138195723-C-G | TNFAIP3 | c.296-259C>G | - | IntronicSNV | - | 2/8 |
| 9-107664301-C-T | ABCA1 | c.66+1594G>A | - | IntronicSNV | - | 2/49 |
| 9-107647655-G-A | ABCA1 | c.161-806C>T | - | IntronicSNV | - | 3/49 |
| 9-107647655-G-T | ABCA1 | c.161-806C>A | - | IntronicSNV | - | 3/49 |
| 11-116619073-C-G | BUD13 | c.*125G>C | - | 3-UTRSNV | 10/10 | - |
| 11-116619073-C-T | BUD13 | c.*125G>A | - | 3-UTRSNV | 10/10 | - |
| 6-26093144-A-C | HFE | c.848A>C | p.Q283P | Missense | 4/6 | - |
| 15-28228529-T-C | OCA2 | c.1465A>G | p.N489D | Missense | 14/24 | - |
| 5-33955673-T-C | SLC45A2 | c.889-1064A>G | - | IntronicSNV | - | 3/6 |
| 9-107657070-G-A | ABCA1 | c.67-5594C>T | - | IntronicSNV | - | 2/49 |
| 11-116652423-G-A | ZPR1 | c.1179+451C>T | - | IntronicSNV | - | 12/13 |
| 15-28530182-C-A | HERC2 | c.323-4749G>T | - | IntronicSNV | - | 4/92 |
| 15-28530182-C-T | HERC2 | c.323-4749G>A | - | IntronicSNV | - | 4/92 |
| 6-26093443-G-T | HFE | c.989G>T | p.R330M | Missense | 5/6 | - |
| 15-28116316-G-A | OCA2 | c.2228C>T | p.P743L | Missense | 21/24 | - |
| 3-37518545-T-A | ITGA9 | c.420+3594T>A | - | IntronicSNV | - | 3/27 |
| 11-116652423-G-C | ZPR1 | c.1179+451C>G | - | IntronicSNV | - | 12/13 |
| 11-116652423-G-T | ZPR1 | c.1179+451C>A | - | IntronicSNV | - | 12/13 |
| 10-17388143-C-T | ST8SIA6 | c.377+13370G>A | - | IntronicSNV | - | 4/7 |
| 15-28171315-C-G | OCA2 | c.2037G>C | p.W679C | Missense | 19/24 | - |
| 9-107647220-C-T | ABCA1 | c.161-371G>A | - | IntronicSNV | - | 3/49 |
| 11-117531731-C-T | DSCAML1 | c.511+115775G>A | - | intron_variant | - | 3/32 |
| 9-107560785-G-A | ABCA1 | c.5038C>T | p.R1680W | Missense | 37/50 | - |
| 9-107639414-G-A | ABCA1 | c.421+5906C>T | - | IntronicSNV | - | 5/49 |
| 9-107658385-G-A | ABCA1 | c.67-6909C>T | - | IntronicSNV | - | 2/49 |
| 11-116652207-C-T | ZPR1 | c.1179+667G>A | - | IntronicSNV | - | 12/13 |
| 11-116621963-T-G | BUD13 | c.1767-2672A>C | - | IntronicSNV | - | 9/9 |
| 9-107648652-C-T | ABCA1 | c.161-1803G>A | - | IntronicSNV | - | 3/49 |
| 11-116655600-G-A | ZPR1 | c.791C>T | p.A264V | Missense | 8/14 | - |
| 5-33982434-C-T | SLC45A2 | c.469G>A | p.D157N | Missense | 2/7 | - |
| 15-28171315-C-A | OCA2 | c.2037G>T | p.W679C | Missense | 19/24 | - |
| 13-43180696-T-A | TNFSF11 | c.596T>A | p.M199K | Missense | 5/5 | - |
| 16-89986136-C-T | MC1R | c.470C>T | p.T157I | Missense | 1/1 | - |
| 11-116655600-G-C | ZPR1 | c.791C>G | p.A264G | Missense | 8/14 | - |
| 3-37522828-G-A | ITGA9 | c.421-147G>A | - | IntronicSNV | - | 3/27 |
| 15-28259965-G-A | OCA2 | c.1001C>T | p.A334V | Missense | 9/24 | - |
| 12-41721430-C-G | PDZRN4 | c.843+133440C>G | - | IntronicSNV | - | 3/9 |
| 12-41721430-C-T | PDZRN4 | c.843+133440C>T | - | IntronicSNV | - | 3/9 |
| 1-201262432-C-G | PKP1 | c.203-638C>G | - | IntronicSNV | - | 1/13 |
| 1-201262432-C-T | PKP1 | c.203-638C>T | - | IntronicSNV | - | 1/13 |
| 15-28263548-G-A | OCA2 | c.802C>T | p.Q268* | Nonsense | 7/24 | - |
| 15-28483811-C-T | HERC2 | c.3685G>A | p.D1229N | Missense | 24/93 | - |
| 13-42875512-C-T | AKAP11 | c.2630C>T | p.A877V | Missense | 8/13 | - |
| 16-89986141-C-A | MC1R | c.475C>A | p.P159T | Missense | 1/1 | - |
| 16-89986133-T-A | MC1R | c.467T>A | p.V156E | Missense | 1/1 | - |
| 15-28234747-C-G | OCA2 | c.1182G>C | p.M394I | Missense | 11/24 | - |
| 15-28234747-C-T | OCA2 | c.1182G>A | p.M394I | Missense | 11/24 | - |
| 15-28234747-C-A | OCA2 | c.1182G>T | p.M394I | Missense | 11/24 | - |
| 5-33944889-G-A | SLC45A2 | c.1457C>T | p.A486V | Missense | 7/7 | - |
| 1-201282447-CGC-TGA | PKP1 | c.460_462delCGCinsTGA | p.R154* | Nonsense | 3/14 | - |
| 9-107593379-G-T | ABCA1 | c.1719C>A | p.Y573* | Nonsense | 14/50 | - |
| 9-107593379-G-C | ABCA1 | c.1719C>G | p.Y573* | Nonsense | 14/50 | - |