Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
13-42857280-C-T | AKAP11 | c.-99-2842C>T | - | intron_variant | - | 1/12 |
6-33047031-T-C | HLA-DPB1 | c.101-1418T>C | - | IntronicSNV | - | 1/5 |
1-155162067-C-A | MUC1 | c.66G>T | p.Thr22Thr | Synonymous | 2/8 | - |
1-155162067-C-T | MUC1 | c.66G>A | p.Thr22Thr | Synonymous | 2/8 | - |
9-244457-G-A | DOCK8 | c.54-27170G>A | - | IntronicSNV | - | 1/47 |
2-43458611-T-C | THADA | c.5467-129A>G | - | IntronicSNV | - | 37/37 |
16-11092478-G-A | CLEC16A | c.1072-4453G>A | - | IntronicSNV | - | 10/23 |
9-244457-G-T | DOCK8 | c.54-27170G>T | - | IntronicSNV | - | 1/47 |
16-11044933-A-G | CLEC16A | c.80+6279A>G | - | IntronicSNV | - | 1/23 |
13-42882620-C-T | AKAP11 | c.5148C>T | p.Thr1716Thr | Synonymous | 9/13 | - |
16-10971474-A-G | CIITA | c.52+235A>G | - | IntronicSNV | - | 1/19 |
13-42870531-A-T | AKAP11 | c.216+653A>T | - | IntronicSNV | - | 5/12 |
13-42870531-A-G | AKAP11 | c.216+653A>G | - | IntronicSNV | - | 5/12 |
3-49721532-G-A | MST1 | c.2107C>T | p.Arg703Cys | Missense | 18/18 | - |
16-11044933-A-T | CLEC16A | c.80+6279A>T | - | IntronicSNV | - | 1/23 |
2-25500905-C-A | DNMT3A | c.449-2493G>T | - | IntronicSNV | - | 4/22 |
16-11041333-G-A | CLEC16A | c.80+2679G>A | - | IntronicSNV | - | 1/23 |
20-39908689-C-T | ZHX3 | c.-244-10966G>A | - | intron_variant | - | 1/3 |
6-31915614-G-A | CFB | c.754G>A | p.Gly252Ser | Missense | 5/18 | - |
1-155206341-T-G | GBA | c.1000-81A>C | - | IntronicSNV | - | 7/10 |
6-31915614-G-T | CFB | c.754G>T | p.Gly252Cys | Missense | 5/18 | - |
16-11063567-G-A | CLEC16A | c.492+401G>A | - | IntronicSNV | - | 4/23 |
3-49537839-C-G | DAG1 | c.-117+7433C>G | - | intron_variant | - | 4/5 |
16-11092478-G-C | CLEC16A | c.1072-4453G>C | - | IntronicSNV | - | 10/23 |
3-57771722-A-G | SLMAP | c.198+28146A>G | - | IntronicSNV | - | 1/20 |
2-25502552-T-G | DNMT3A | c.448+2758A>C | - | IntronicSNV | - | 4/22 |
16-11061444-G-A | CLEC16A | c.344-1574G>A | - | IntronicSNV | - | 3/23 |
16-11064026-T-C | CLEC16A | c.492+860T>C | - | IntronicSNV | - | 4/23 |
13-42862423-C-T | AKAP11 | c.51+1888C>T | - | IntronicSNV | - | 3/12 |