Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
1-63049593-C-G | DOCK7 | c.1801-668G>C | - | IntronicSNV | - | 15/48 |
7-73020337-C-G | MLXIPL | c.723G>C | p.Gln241His | Missense | 6/17 | - |
19-19329924-C-A | NCAN | c.274C>A | p.Pro92Thr | Missense | 3/15 | - |
20-36399580-G-T | CTNNBL1 | c.750+3134G>T | - | IntronicSNV | - | 7/15 |
6-20657564-A-G | CDKAL1 | c.371+7956A>G | - | IntronicSNV | - | 5/15 |
18-58038832-T-G | MC4R | c.751A>C | p.Ile251Leu | Missense | 1/1 | - |
9-107647220-C-T | ABCA1 | c.161-371G>A | - | IntronicSNV | - | 3/49 |
12-121424861-A-G | HNF1A | c.327-1775A>G | - | IntronicSNV | - | 1/9 |
1-230294916-C-T | GALNT2 | c.127-19048C>T | - | IntronicSNV | - | 1/15 |
6-151252985-G-A | MTHFD1L | c.1257-4955G>A | - | IntronicSNV | - | 11/27 |
12-109895168-C-G | KCTD10 | c.527+267G>C | - | IntronicSNV | - | 5/6 |
11-116652207-C-T | ZPR1 | c.1179+667G>A | - | IntronicSNV | - | 12/13 |
1-162085685-G-T | NOS1AP | c.106-38510G>T | - | IntronicSNV | - | 1/9 |
12-121424861-A-T | HNF1A | c.327-1775A>T | - | IntronicSNV | - | 1/9 |
1-63049593-C-T | DOCK7 | c.1801-668G>A | - | IntronicSNV | - | 15/48 |
12-121424861-A-C | HNF1A | c.327-1775A>C | - | IntronicSNV | - | 1/9 |
4-9935910-A-G | SLC2A9 | c.727+7627T>C | - | IntronicSNV | - | 7/12 |