Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
9-107657070-G-A | ABCA1 | c.67-5594C>T | - | IntronicSNV | - | 2/49 |
9-107647220-C-T | ABCA1 | c.161-371G>A | - | IntronicSNV | - | 3/49 |
9-107588033-C-T | ABCA1 | c.2473G>A | p.Val825Ile | Missense | 17/50 | - |
1-230294715-C-A | GALNT2 | c.127-19249C>A | - | IntronicSNV | - | 1/15 |
9-107648519-T-C | ABCA1 | c.161-1670A>G | - | IntronicSNV | - | 3/49 |
9-107662494-G-A | ABCA1 | c.66+3401C>T | - | IntronicSNV | - | 2/49 |
11-116662331-G-T | APOA5 | c.132C>A | p.Ile44Ile | Synonymous | 3/4 | - |
1-230294916-C-T | GALNT2 | c.127-19048C>T | - | IntronicSNV | - | 1/15 |
1-230294715-C-T | GALNT2 | c.127-19249C>T | - | IntronicSNV | - | 1/15 |
19-45395619-A-G | TOMM40 | c.275-31A>G | - | IntronicSNV | - | 2/9 |
1-230304988-A-G | GALNT2 | c.127-8976A>G | - | IntronicSNV | - | 1/15 |
1-230304988-A-C | GALNT2 | c.127-8976A>C | - | IntronicSNV | - | 1/15 |
16-67977382-T-C | LCAT | c.155-267A>G | - | IntronicSNV | - | 1/5 |
11-116619073-C-G | BUD13 | c.*125G>C | - | 3-UTRSNV | 10/10 | - |
9-107647655-G-A | ABCA1 | c.161-806C>T | - | IntronicSNV | - | 3/49 |
11-116619073-C-T | BUD13 | c.*125G>A | - | 3-UTRSNV | 10/10 | - |
1-230295307-C-G | GALNT2 | c.127-18657C>G | - | IntronicSNV | - | 1/15 |
1-230295307-C-A | GALNT2 | c.127-18657C>A | - | IntronicSNV | - | 1/15 |
9-15296034-C-A | TTC39B | c.240+11048G>T | - | IntronicSNV | - | 1/19 |
9-107647655-G-T | ABCA1 | c.161-806C>A | - | IntronicSNV | - | 3/49 |
1-230295691-G-A | GALNT2 | c.127-18273G>A | - | IntronicSNV | - | 1/15 |
1-230297136-C-T | GALNT2 | c.127-16828C>T | - | IntronicSNV | - | 1/15 |
11-116652207-C-T | ZPR1 | c.1179+667G>A | - | IntronicSNV | - | 12/13 |
16-67708897-A-G | GFOD2 | c.*161T>C | - | 3-UTRSNV | 3/3 | - |