Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
8-19816832-G-T | LPL | c.1080G>T | p.Gln360His | Missense | 7/10 | - |
8-19816832-G-C | LPL | c.1080G>C | p.Gln360His | Missense | 7/10 | - |
11-116691675-T-C | APOA4 | c.1099A>G | p.Thr367Ala | Missense | 3/3 | - |
11-116691675-T-A | APOA4 | c.1099A>T | p.Thr367Ser | Missense | 3/3 | - |
18-47117374-A-G | LIPG | c.*482A>G | - | 3-UTRSNV | 10/10 | - |
16-57017662-G-A | CETP | c.*84G>A | - | 3-UTRSNV | 16/16 | - |
19-11242765-A-G | LDLR | c.*773A>G | - | 3-UTRSNV | 18/18 | - |
19-45489728-G-A | CLPTM1 | c.688G>A | p.Gly230Arg | Missense | 7/14 | - |
19-45489728-G-C | CLPTM1 | c.688G>C | p.Gly230Arg | Missense | 7/14 | - |
2-217204949-T-G | MARCH4 | c.516+29519A>C | - | IntronicSNV | - | 1/3 |
8-19815189-C-T | LPL | c.1019-1582C>T | - | IntronicSNV | - | 6/9 |
7-80259280-A-G | CD36 | c.1-16777A>G | - | IntronicSNV | - | 1/13 |
9-107665978-C-G | ABCA1 | c.1-18G>C | - | 5-UTRSNV | 2/50 | - |
9-107665978-C-T | ABCA1 | c.1-18G>A | - | 5-UTRSNV | 2/50 | - |
8-19805708-G-C | LPL | c.106G>C | p.Asp36His | Missense | 2/10 | - |
8-19805708-G-A | LPL | c.106G>A | p.Asp36Asn | Missense | 2/10 | - |
15-58833703-G-C | LIPC | c.274-281G>C | - | IntronicSNV | - | 2/8 |
9-107666037-C-CC | ABCA1 | c.1-76_1-76dup | - | 5-UTRInsertion | 2/50 | - |
9-107600168-A-G | ABCA1 | c.1055-320T>C | - | IntronicSNV | - | 9/49 |
11-116619073-C-G | BUD13 | c.*125G>C | - | 3-UTRSNV | 10/10 | - |
8-145550465-A-C | DGAT1 | c.1-166T>G | - | 5-UTRSNV | 1/17 | - |
8-145550465-A-G | DGAT1 | c.1-166T>C | - | 5-UTRSNV | 1/17 | - |
11-116619073-C-T | BUD13 | c.*125G>A | - | 3-UTRSNV | 10/10 | - |
12-125302217-T-G | SCARB1 | c.163A>C | p.Met55Leu | Missense | 2/13 | - |
15-58833703-G-A | LIPC | c.274-281G>A | - | IntronicSNV | - | 2/8 |
12-125348263-C-T | SCARB1 | c.4G>A | p.Gly2Ser | Missense | 1/13 | - |
19-11242658-T-C | LDLR | c.*666T>C | - | 3-UTRSNV | 18/18 | - |
19-11242658-T-A | LDLR | c.*666T>A | - | 3-UTRSNV | 18/18 | - |
9-107593308-T-C | ABCA1 | c.1790A>G | p.Gln597Arg | Missense | 14/50 | - |
3-10332926-C-G | GHRL | c.-556G>C | - | 5_prime_UTR_variant | 2/6 | - |
19-45477381-G-A | CLPTM1 | c.310-315G>A | - | IntronicSNV | - | 3/13 |
9-107593308-T-A | ABCA1 | c.1790A>T | p.Gln597Leu | Missense | 14/50 | - |
19-11230881-T-C | LDLR | c.1959T>C | p.Val653Val | Synonymous | 13/18 | - |
9-107665978-C-A | ABCA1 | c.1-18G>T | - | 5-UTRSNV | 2/50 | - |
3-10333364-C-G | GHRL | c.-765-229G>C | - | intron_variant | - | 1/5 |
9-107620835-G-A | ABCA1 | c.688C>T | p.Arg230Cys | Missense | 7/50 | - |
15-58740588-C-A | LIPC | c.88+16269C>A | - | IntronicSNV | - | 1/8 |
19-11230881-T-G | LDLR | c.1959T>G | p.Val653Val | Synonymous | 13/18 | - |
15-58740588-C-T | LIPC | c.88+16269C>T | - | IntronicSNV | - | 1/8 |
19-11230881-T-A | LDLR | c.1959T>A | p.Val653Val | Synonymous | 13/18 | - |
18-47093864-C-T | LIPG | c.332C>T | p.Thr111Ile | Missense | 3/10 | - |
12-125302217-T-A | SCARB1 | c.163A>T | p.Met55Leu | Missense | 2/13 | - |
12-110017630-AC-TG | MVK | c.250_251delACinsTG | p.Thr84Cys | Missense | 4/11 | - |
15-58853079-C-T | LIPC | c.1068C>T | p.Phe356Phe | Synonymous | 7/9 | - |
9-107562804-T-C | ABCA1 | c.4760A>G | p.Lys1587Arg | Missense | 35/50 | - |
9-107657070-G-A | ABCA1 | c.67-5594C>T | - | IntronicSNV | - | 2/49 |
9-107647220-C-T | ABCA1 | c.161-371G>A | - | IntronicSNV | - | 3/49 |
19-11224107-CC-AA | LDLR | c.1340_1341delCCinsAA | p.Ser447* | Nonsense | 9/18 | - |
16-57006378-A-G | CETP | c.750+383A>G | - | IntronicSNV | - | 8/15 |
16-57007451-G-A | CETP | c.930+29G>A | - | IntronicSNV | - | 9/15 |
9-107647655-G-A | ABCA1 | c.161-806C>T | - | IntronicSNV | - | 3/49 |
9-107647655-G-T | ABCA1 | c.161-806C>A | - | IntronicSNV | - | 3/49 |
3-10328809-T-C | GHRL | c.226-313A>G | - | IntronicSNV | - | 4/5 |
3-10332365-T-G | GHRL | c.-30+35A>C | - | intron_variant | - | 2/5 |
11-47280762-G-A | NR1H3 | c.1-6G>A | - | 5-UTRSNV | 2/9 | - |
1-230372427-G-A | GALNT2 | c.563G>A | p.Gly188Glu | Missense | 6/16 | - |
16-57015545-C-A | CETP | c.1215-14C>A | - | IntronicSNV | - | 12/15 |
16-57015545-C-T | CETP | c.1215-14C>T | - | IntronicSNV | - | 12/15 |
11-116661488-C-T | APOA5 | c.457G>A | p.Val153Met | Missense | 4/4 | - |
11-116700777-G-C | APOC3 | c.-14+121G>C | - | intron_variant | - | 1/3 |
3-10332352-G-A | GHRL | c.1-488C>T | - | IntronicSNV | 2/6 | - |
16-67985706-C-A | SLC12A4 | c.1132+20G>T | - | IntronicSNV | - | 8/23 |
16-67985706-C-T | SLC12A4 | c.1132+20G>A | - | IntronicSNV | - | 8/23 |
12-125299542-C-T | SCARB1 | c.403G>A | p.Val135Ile | Missense | 3/13 | - |
11-116728630-G-T | SIK3 | c.3407C>A | - | missense_variant | 20/24 | - |
18-47113008-C-T | LIPG | c.1377-108C>T | - | IntronicSNV | - | 8/9 |
11-116691634-C-A | APOA4 | c.1140G>T | p.Gln380His | Missense | 3/3 | - |
8-19819439-A-G | LPL | c.1323-187A>G | - | IntronicSNV | - | 8/9 |
8-19819077-T-G | LPL | c.1322+483T>G | - | IntronicSNV | - | 8/9 |
11-116728630-G-A | SIK3 | c.3407C>T | - | missense_variant | 20/24 | - |
15-58727325-A-G | LIPC | c.88+3006A>G | - | IntronicSNV | - | 1/8 |
11-116661392-C-A | APOA5 | c.553G>T | p.Gly185Cys | Missense | 4/4 | - |
16-57015091-G-C | CETP | c.1168G>C | p.Ala390Pro | Missense | 12/16 | - |
12-125284748-A-G | SCARB1 | c.1050T>C | p.Ala350Ala | Synonymous | 8/13 | - |
12-125284748-A-T | SCARB1 | c.1050T>A | p.Ala350Ala | Synonymous | 8/13 | - |
16-67976320-A-T | LCAT | c.694T>A | p.Ser232Thr | Missense | 5/6 | - |
16-57004889-G-A | CETP | c.528-56G>A | - | IntronicSNV | - | 5/15 |
16-68024995-G-A | DPEP2 | c.732+23C>T | - | IntronicSNV | - | 6/10 |
16-67976320-A-C | LCAT | c.694T>G | p.Ser232Ala | Missense | 5/6 | - |
16-57017292-A-G | CETP | c.1376A>G | p.Asp459Gly | Missense | 15/16 | - |
1-230294916-C-T | GALNT2 | c.127-19048C>T | - | IntronicSNV | - | 1/15 |
9-107586753-T-C | ABCA1 | c.2649A>G | p.Ile883Met | Missense | 18/50 | - |
1-57143986-A-G | PRKAA2 | c.236+3791A>G | - | IntronicSNV | - | 2/8 |
15-58853079-C-A | LIPC | c.1068C>A | p.Phe356Leu | Missense | 7/9 | - |
9-107645080-C-T | ABCA1 | c.421+240G>A | - | IntronicSNV | - | 5/49 |
9-104499834-G-A | GRIN3A | c.428C>T | p.Pro143Leu | Missense | 1/9 | - |
3-10328453-T-A | GHRL | c.269A>T | p.Gln90Leu | Missense | 5/6 | - |
15-58742731-T-G | LIPC | c.88+18412T>G | - | IntronicSNV | - | 1/8 |
11-116701535-T-C | APOC3 | c.102T>C | p.Gly34Gly | Synonymous | 3/4 | - |
11-116708020-A-G | APOA1 | c.43+41T>C | - | IntronicSNV | - | 2/3 |
18-47102002-T-C | LIPG | c.793+42T>C | - | IntronicSNV | - | 5/9 |
8-19819077-T-A | LPL | c.1322+483T>A | - | IntronicSNV | - | 8/9 |
16-57017319-G-A | CETP | c.1403G>A | p.Arg468Gln | Missense | 15/16 | - |
9-107579632-C-G | ABCA1 | c.3516G>C | p.Glu1172Asp | Missense | 24/50 | - |
11-116728630-G-C | SIK3 | c.3407C>G | - | missense_variant | 20/24 | - |
11-123596703-A-T | ZNF202 | c.*2T>A | - | 3-UTRSNV | 9/9 | - |
12-109895168-C-G | KCTD10 | c.527+267G>C | - | IntronicSNV | - | 5/6 |
8-19820405-G-A | LPL | c.1427+675G>A | - | IntronicSNV | - | 9/9 |
11-123596703-A-C | ZNF202 | c.*2T>G | - | 3-UTRSNV | 9/9 | - |
9-104362937-A-G | GRIN3A | c.2766+12721T>C | - | IntronicSNV | - | 6/8 |
15-58853143-GGA-TGT | LIPC | c.1132_1134delGGAinsTGT | p.Gly378Cys | Missense | 7/9 | - |
11-116708254-G-A | APOA1 | c.-21+67C>T | - | intron_variant | - | 1/3 |
11-116661826-T-C | APOA5 | c.162-43A>G | - | IntronicSNV | - | 3/3 |
9-107588033-C-T | ABCA1 | c.2473G>A | p.Val825Ile | Missense | 17/50 | - |
9-107589255-C-T | ABCA1 | c.2311G>A | p.Val771Met | Missense | 16/50 | - |
11-116708413-C-T | APOA1 | c.-113G>A | - | 5_prime_UTR_variant | 1/4 | - |
15-58732468-G-A | LIPC | c.88+8149G>A | - | IntronicSNV | - | 1/8 |
16-57005257-T-A | CETP | c.622T>A | p.Ser208Thr | Missense | 7/16 | - |
16-67976417-G-A | LCAT | c.597C>T | p.Val199Val | Synonymous | 5/6 | - |