Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
9-107620867-C-T | ABCA1 | c.656G>A | p.R219K | Missense | 7/50 | - |
19-11216264-G-T | LDLR | c.682G>T | p.E228* | Nonsense | 4/18 | - |
9-107620835-G-A | ABCA1 | c.688C>T | p.R230C | Missense | 7/50 | - |
16-57016092-G-A | CETP | c.1264G>A | p.V422I | Missense | 14/16 | - |
16-57016092-G-C | CETP | c.1264G>C | p.V422L | Missense | 14/16 | - |
9-107624029-C-G | ABCA1 | c.474G>C | p.L158= | Synonymous | 6/50 | - |
8-19813529-A-G | LPL | c.953A>G | p.N318S | Missense | 6/10 | - |
16-81534790-T-A | CMIP | c.300+55644T>A | - | IntronicSNV | - | 1/20 |
16-81534790-T-C | CMIP | c.300+55644T>C | - | IntronicSNV | - | 1/20 |
9-107647655-G-A | ABCA1 | c.161-806C>T | - | IntronicSNV | - | 3/49 |
9-107647655-G-T | ABCA1 | c.161-806C>A | - | IntronicSNV | - | 3/49 |
9-107664301-C-T | ABCA1 | c.66+1594G>A | - | IntronicSNV | - | 2/49 |
19-8433196-C-A | ANGPTL4 | c.548-907C>A | - | IntronicSNV | - | 3/6 |
12-110000193-C-G | MMAB | c.349-536G>C | - | IntronicSNV | - | 4/8 |
12-110000193-C-T | MMAB | c.349-536G>A | - | IntronicSNV | - | 4/8 |
12-125261593-C-T | SCARB1 | c.*1540G>A | - | IntronicSNV | 13/13 | - |
18-47109955-A-G | LIPG | c.1187A>G | p.N396S | Missense | 8/10 | - |
11-116707739-A-C | APOA1 | c.178T>G | p.S60A | Missense | 3/4 | - |
9-107593329-C-A | ABCA1 | c.1769G>T | p.W590L | Missense | 14/50 | - |
9-107589255-C-T | ABCA1 | c.2311G>A | p.V771M | Missense | 16/50 | - |
9-107579632-C-G | ABCA1 | c.3516G>C | p.E1172D | Missense | 24/50 | - |
9-107579632-C-A | ABCA1 | c.3516G>T | p.E1172D | Missense | 24/50 | - |
16-67976320-A-T | LCAT | c.694T>A | p.S232T | Missense | 5/6 | - |
9-107589238-C-G | ABCA1 | c.2328G>C | p.K776N | Missense | 16/50 | - |
11-116706934-ACTT-A | APOA1 | c.391_393delAAG | p.K131del | InFrameDeletion | 4/4 | - |
19-11213441-G-A | LDLR | c.292G>A | p.G98S | Missense | 3/18 | - |
9-107586753-T-C | ABCA1 | c.2649A>G | p.I883M | Missense | 18/50 | - |
8-19810881-G-T | LPL | c.490G>T | p.A164S | Missense | 4/10 | - |
9-107588033-C-T | ABCA1 | c.2473G>A | p.V825I | Missense | 17/50 | - |
11-116652423-G-C | ZPR1 | c.1179+451C>G | - | IntronicSNV | - | 12/13 |
11-116652423-G-A | ZPR1 | c.1179+451C>T | - | IntronicSNV | - | 12/13 |
11-116639104-A-G | BUD13 | c.237+1741T>C | - | IntronicSNV | - | 2/9 |
11-116639104-A-T | BUD13 | c.237+1741T>A | - | IntronicSNV | - | 2/9 |
11-116652423-G-T | ZPR1 | c.1179+451C>A | - | IntronicSNV | - | 12/13 |
9-107624242-A-G | ABCA1 | c.422-161T>C | - | IntronicSNV | - | 5/49 |
9-107556776-T-G | ABCA1 | c.5398A>C | p.N1800H | Missense | 40/50 | - |
16-67977846-C-T | LCAT | c.154+5G>A | - | IntronicSNV | - | 1/5 |
19-11224107-CC-AA | LDLR | c.1340_1341delCCinsAA | p.S447* | Nonsense | 9/18 | - |
2-44071736-C-G | ABCG8 | c.154C>G | p.L52V | Missense | 2/13 | - |
15-58855748-C-T | LIPC | c.1214C>T | p.T405M | Missense | 8/9 | - |
16-67977904-G-A | LCAT | c.101C>T | p.P34L | Missense | 1/6 | - |
16-67977895-G-A | LCAT | c.110C>T | p.T37M | Missense | 1/6 | - |
16-67976969-C-T | LCAT | c.301G>A | p.D101N | Missense | 2/6 | - |
16-67976606-C-T | LCAT | c.491G>A | p.R164H | Missense | 4/6 | - |
16-67976585-C-T | LCAT | c.512G>A | p.R171Q | Missense | 4/6 | - |
16-67974180-A-C | LCAT | c.950T>G | p.M317R | Missense | 6/6 | - |
16-67977101-C-G | LCAT | c.169G>C | p.G57R | Missense | 2/6 | - |
16-67976809-C-T | LCAT | c.382G>A | p.G128S | Missense | 3/6 | - |
16-67976622-G-A | LCAT | c.475C>T | p.R159W | Missense | 4/6 | - |
16-67974018-G-A | LCAT | c.1112C>T | p.T371M | Missense | 6/6 | - |
16-67974219-C-T | LCAT | c.911G>A | p.R304H | Missense | 6/6 | - |
16-67974007-G-A | LCAT | c.1123C>T | p.R375C | Missense | 6/6 | - |
16-67973991-C-T | LCAT | c.1139G>A | p.C380Y | Missense | 6/6 | - |
16-67977903-C-CG | LCAT | c.101dupC | p.H35Afs*7 | Frameshift | 1/6 | - |
16-67976794-AC-A | LCAT | c.397delG | p.V133Wfs*131 | Frameshift | 3/6 | - |
9-107646756-G-A | ABCA1 | c.254C>T | p.P85L | Missense | 4/50 | - |
9-107620797-A-G | ABCA1 | c.720+6T>C | - | IntronicSNV | - | 7/49 |
9-107690402-G-A | ABCA1 | c.1-279C>T | - | IntronicSNV | 1/50 | - |
9-107690402-G-C | ABCA1 | c.1-279C>G | - | IntronicSNV | 1/50 | - |
19-11210979-G-T | LDLR | c.148G>T | p.A50S | Missense | 2/18 | - |
2-21245889-G-A | APOB | c.2630C>T | p.P877L | Missense | 18/29 | - |
9-107547892-G-A | ABCA1 | c.6430C>T | p.R2144* | Nonsense | 49/50 | - |
9-107550201-C-G | ABCA1 | c.6204G>C | p.L2068= | Synonymous | 46/50 | - |
9-107558340-G-A | ABCA1 | c.5376C>T | p.T1792= | Synonymous | 39/50 | - |
9-107566948-C-T | ABCA1 | c.4518G>A | p.S1506= | Synonymous | 32/50 | - |
9-107574868-C-T | ABCA1 | c.4037G>A | p.G1346E | Missense | 28/50 | - |
9-107578515-C-A | ABCA1 | c.3647G>T | p.G1216V | Missense | 25/50 | - |
9-107582213-A-G | ABCA1 | c.3098T>C | p.L1033P | Missense | 21/50 | - |
9-107586851-C-T | ABCA1 | c.2551G>A | p.G851R | Missense | 18/50 | - |
9-107589255-C-G | ABCA1 | c.2311G>C | p.V771L | Missense | 16/50 | - |
9-107593324-C-A | ABCA1 | c.1774G>T | p.G592C | Missense | 14/50 | - |
9-107593339-G-A | ABCA1 | c.1759C>T | p.R587W | Missense | 14/50 | - |
9-107602698-G-A | ABCA1 | c.916C>T | p.R306C | Missense | 9/50 | - |
9-107607760-C-A | ABCA1 | c.811G>T | p.E271* | Nonsense | 8/50 | - |
9-107645381-G-A | ABCA1 | c.360C>T | p.T120= | Synonymous | 5/50 | - |
9-107665929-A-G | ABCA1 | c.32T>C | p.L11P | Missense | 2/50 | - |
15-58801943-A-G | LIPC | c.89-28589A>G | - | IntronicSNV | - | 1/8 |
15-58801943-A-T | LIPC | c.89-28589A>T | - | IntronicSNV | - | 1/8 |
9-107573080-C-A | ABCA1 | c.4175+1G>T | - | IntronicSNV | - | 29/49 |
19-11201366-G-A | LDLR | c.67+1075G>A | - | IntronicSNV | - | 1/17 |
10-16905500-C-G | CUBN | c.9454+6135G>C | - | IntronicSNV | - | 59/66 |
10-16905500-C-T | CUBN | c.9454+6135G>A | - | IntronicSNV | - | 59/66 |
9-107555510-CT-C | ABCA1 | c.5577delA | p.V1861Wfs*9 | Frameshift | 41/50 | - |
19-11230899-C-A | LDLR | c.1977C>A | p.T659= | Synonymous | 13/18 | - |
9-107571786-G-C | ABCA1 | c.4235C>G | p.P1412R | Missense | 30/50 | - |
9-107593328-C-G | ABCA1 | c.1770G>C | p.W590C | Missense | 14/50 | - |
9-107568556-C-A | ABCA1 | c.4430G>T | p.C1477F | Missense | 31/50 | - |
9-107594917-T-G | ABCA1 | c.1447A>C | p.T483P | Missense | 12/50 | - |
19-11230899-C-G | LDLR | c.1977C>G | p.T659= | Synonymous | 13/18 | - |
11-116707001-C-T | APOA1 | c.327G>A | p.E109= | Synonymous | 4/4 | - |
9-107566974-G-A | ABCA1 | c.4492C>T | p.Q1498* | Nonsense | 32/50 | - |
9-107594089-A-C | ABCA1 | c.1529T>G | p.L510R | Missense | 13/50 | - |
9-107593919-T-A | ABCA1 | c.1699A>T | p.N567Y | Missense | 13/50 | - |
9-107556697-T-A | ABCA1 | c.5477A>T | p.Q1826L | Missense | 40/50 | - |
9-107593236-T-C | ABCA1 | c.1862A>G | p.Q621R | Missense | 14/50 | - |
9-107549244-G-A | ABCA1 | c.6218C>T | p.T2073I | Missense | 47/50 | - |
2-44078950-C-T | ABCG8 | c.550C>T | p.R184C | Missense | 4/13 | - |
11-116706919-C-A | APOA1 | c.409G>T | p.E137* | Nonsense | 4/4 | - |
11-116706610-G-A | APOA1 | c.718C>T | p.Q240* | Nonsense | 4/4 | - |
11-116706811-G-T | APOA1 | c.517C>A | p.R173S | Missense | 4/4 | - |
2-21232128-G-A | APOB | c.7612C>T | p.L2538= | Synonymous | 26/29 | - |
2-21231628-C-T | APOB | c.8112G>A | p.A2704= | Synonymous | 26/29 | - |
2-21239364-G-C | APOB | c.3279C>G | p.T1093= | Synonymous | 21/29 | - |
8-19805736-C-A | LPL | c.134C>A | p.T45N | Missense | 2/10 | - |
4-68447106-G-C | STAP1 | c.447G>C | p.R149S | Missense | 5/9 | - |
4-68447106-G-T | STAP1 | c.447G>T | p.R149S | Missense | 5/9 | - |
19-11230899-C-T | LDLR | c.1977C>T | p.T659= | Synonymous | 13/18 | - |
8-133899404-G-C | TG | c.1787G>C | p.G596A | Missense | 9/48 | - |
9-107581915-G-A | ABCA1 | c.3193C>T | p.P1065S | Missense | 22/50 | - |
17-56356714-A-T | MPO | c.622T>A | p.S208T | Missense | 5/12 | - |
4-68472059-A-G | STAP1 | c.872A>G | p.N291S | Missense | 9/9 | - |
9-107594933-ACT-TCA | ABCA1 | c.1429_1431delAGTinsTGA | p.S477* | Nonsense | 12/50 | - |
9-107586833-AC-A | ABCA1 | c.2568delG | p.W856Cfs*40 | Frameshift | 18/50 | - |
9-107555483-G-GC | ABCA1 | c.5604_5605insG | p.L1869Afs*22 | Frameshift | 41/50 | - |