Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
10-6479156-C-T | PRKCQ | c.1836+4699G>A | - | IntronicSNV | - | 16/17 |
11-116652423-G-C | ZPR1 | c.1179+451C>G | - | IntronicSNV | - | 12/13 |
11-116652423-G-A | ZPR1 | c.1179+451C>T | - | IntronicSNV | - | 12/13 |
11-116652423-G-T | ZPR1 | c.1179+451C>A | - | IntronicSNV | - | 12/13 |
13-113769639-T-G | F7 | c.431-335T>G | - | IntronicSNV | - | 5/8 |
11-116660686-G-A | APOA5 | c.*158C>T | - | 3-UTRSNV | 4/4 | - |
13-113773159-G-A | F7 | c.1238G>A | p.Arg413Gln | Missense | 9/9 | - |
13-113773159-G-C | F7 | c.1238G>C | p.Arg413Pro | Missense | 9/9 | - |
13-113760228-G-A | F7 | c.64+9G>A | - | IntronicSNV | - | 1/8 |
13-113781018-G-A | F10 | c.71-2748G>A | - | IntronicSNV | - | 1/7 |
13-113769226-A-C | F7 | c.431-748A>C | - | IntronicSNV | - | 5/8 |
7-73020337-C-G | MLXIPL | c.723G>C | p.Gln241His | Missense | 6/17 | - |
10-6473216-T-G | PRKCQ | c.1837-316A>C | - | IntronicSNV | - | 16/17 |
20-43042364-C-T | HNF4A | c.416C>T | p.Thr139Ile | Missense | 4/10 | - |
20-33764554-A-G | PROCR | c.655A>G | p.Ser219Gly | Missense | 4/4 | - |
13-113773159-G-T | F7 | c.1238G>T | p.Arg413Leu | Missense | 9/9 | - |