Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
1-230310972-T-C | GALNT2 | c.127-2992T>C | - | IntronicSNV | - | 1/15 |
12-109675029-T-A | ACACB | c.4506T>A | p.Leu1502Leu | Synonymous | 34/53 | - |
8-19810787-C-A | LPL | c.430-34C>A | - | IntronicSNV | - | 3/9 |
16-56919348-C-A | SLC12A3 | c.1925+72C>A | - | IntronicSNV | - | 15/25 |
16-56919348-C-G | SLC12A3 | c.1925+72C>G | - | IntronicSNV | - | 15/25 |
11-116662579-C-T | APOA5 | c.1-3G>A | - | 5-UTRSNV | 2/4 | - |
11-47663049-A-G | MTCH2 | c.87+882T>C | - | IntronicSNV | - | 1/12 |
12-109675029-T-C | ACACB | c.4506T>C | p.Leu1502Leu | Synonymous | 34/53 | - |
1-230295691-G-A | GALNT2 | c.127-18273G>A | - | IntronicSNV | - | 1/15 |
16-56852822-G-T | NUP93 | c.564+172G>T | - | IntronicSNV | - | 6/21 |
9-104362937-A-G | GRIN3A | c.2766+12721T>C | - | IntronicSNV | - | 6/8 |
12-109895168-C-G | KCTD10 | c.527+267G>C | - | IntronicSNV | - | 5/6 |
9-104359261-G-A | GRIN3A | c.2766+16397C>T | - | IntronicSNV | - | 6/8 |
1-63049593-C-T | DOCK7 | c.1801-668G>A | - | IntronicSNV | - | 15/48 |
9-104359261-G-C | GRIN3A | c.2766+16397C>G | - | IntronicSNV | - | 6/8 |
1-230297659-C-T | GALNT2 | c.127-16305C>T | - | IntronicSNV | - | 1/15 |
9-107647220-C-T | ABCA1 | c.161-371G>A | - | IntronicSNV | - | 3/49 |
3-118948155-C-T | B4GALT4 | c.253+539G>A | - | IntronicSNV | - | 3/7 |
1-230294916-C-T | GALNT2 | c.127-19048C>T | - | IntronicSNV | - | 1/15 |
2-28076708-C-G | RBKS | c.222+4598G>C | - | IntronicSNV | - | 2/7 |
12-109675029-T-G | ACACB | c.4506T>G | p.Leu1502Leu | Synonymous | 34/53 | - |
16-68024995-G-A | DPEP2 | c.732+23C>T | - | IntronicSNV | - | 6/10 |
11-116649135-G-A | ZPR1 | c.*506C>T | - | IntergenicSNV | 14/14 | - |
1-63049593-C-G | DOCK7 | c.1801-668G>C | - | IntronicSNV | - | 15/48 |
2-28076708-C-A | RBKS | c.222+4598G>T | - | IntronicSNV | - | 2/7 |
16-28881202-A-C | SH2B1 | c.1309+498A>C | - | IntronicSNV | - | 4/8 |
19-11152650-C-T | SMARCA4 | c.4424+414C>T | - | IntronicSNV | - | 30/34 |
16-56997233-G-A | CETP | c.233+197G>A | - | IntronicSNV | - | 2/15 |
19-19329924-C-A | NCAN | c.274C>A | p.Pro92Thr | Missense | 3/15 | - |
16-53821615-A-G | FTO | c.46-22437A>G | - | IntronicSNV | - | 1/8 |
3-118948171-A-G | B4GALT4 | c.253+523T>C | - | IntronicSNV | - | 3/7 |
16-56883924-A-G | NUP93 | c.*5403A>G | - | IntergenicSNV | 22/22 | - |
16-28883241-A-T | SH2B1 | c.1450A>T | p.Thr484Ser | Missense | 5/9 | - |
15-58727325-A-G | LIPC | c.88+3006A>G | - | IntronicSNV | - | 1/8 |
16-28883241-A-G | SH2B1 | c.1450A>G | p.Thr484Ala | Missense | 5/9 | - |
17-35609866-C-T | ACACA | c.1812G>A | p.Gln604Gln | Synonymous | 15/56 | - |
7-72982874-C-T | TBL2 | c.*1963G>A | - | IntergenicSNV | 7/7 | - |
1-63045506-A-C | DOCK7 | c.1872-869T>G | - | IntronicSNV | - | 16/48 |
11-116652207-C-T | ZPR1 | c.1179+667G>A | - | IntronicSNV | - | 12/13 |
7-24326981-C-T | NPY | c.188+1934C>T | - | IntronicSNV | - | 2/3 |
2-28078994-G-A | RBKS | c.222+2312C>T | - | IntronicSNV | - | 2/7 |
2-21232195-G-A | APOB | c.7545C>T | p.Thr2515Thr | Synonymous | 26/29 | - |
18-47099186-A-G | LIPG | c.572-2553A>G | - | IntronicSNV | - | 4/9 |
19-19329924-C-T | NCAN | c.274C>T | p.Pro92Ser | Missense | 3/15 | - |
1-109822509-T-C | PSRC1 | c.*266A>G | - | 3-UTRSNV | 8/8 | - |
12-109895958-G-A | KCTD10 | c.388-75C>T | - | IntronicSNV | - | 3/6 |