Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
4-22509558-T-A | ADGRA3 | c.257+7593A>T | - | IntronicSNV | - | 1/18 |
2-172409721-C-T | CYBRD1 | c.403-135C>T | - | IntronicSNV | - | 2/3 |
11-82581587-C-G | PRCP | c.169-10428G>C | - | IntronicSNV | - | 1/8 |
20-58393002-G-T | PHACTR3 | c.1328+11753G>T | - | IntronicSNV | - | 8/12 |
10-50097819-G-A | WDFY4 | c.7168-805G>A | - | IntronicSNV | - | 43/61 |
7-147192154-G-C | CNTNAP2 | c.1777+9021G>C | - | IntronicSNV | - | 11/23 |
7-147192154-G-T | CNTNAP2 | c.1777+9021G>T | - | IntronicSNV | - | 11/23 |
11-120644447-A-C | GRIK4 | c.83-28955A>C | - | IntronicSNV | - | 3/20 |
2-191860502-C-A | STAT1 | c.786-557G>T | - | IntronicSNV | - | 9/24 |
1-17681277-T-C | PADI4 | c.1310+95T>C | - | IntronicSNV | - | 11/15 |
7-72982874-C-T | TBL2 | c.*1963G>A | - | IntergenicSNV | 7/7 | - |
17-80715054-T-C | TBCD | c.235+963T>C | - | IntronicSNV | - | 2/38 |
1-62922660-G-A | DOCK7 | c.6287+549C>T | - | IntronicSNV | - | 48/48 |
9-2130917-G-C | SMARCA2 | c.3981+6980G>C | - | IntronicSNV | - | 27/33 |
9-2130917-G-A | SMARCA2 | c.3981+6980G>A | - | IntronicSNV | - | 27/33 |
2-191973563-A-G | STAT4 | c.274-32512T>C | - | IntronicSNV | - | 3/23 |
20-20217327-T-G | CFAP61 | c.2060+8307T>G | - | IntronicSNV | - | 18/26 |
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 |
2-202560854-T-C | MPP4 | c.1-2177A>G | - | IntronicSNV | - | 1/21 |
1-230300586-C-G | GALNT2 | c.127-13378C>G | - | IntronicSNV | - | 1/15 |
1-230300586-C-T | GALNT2 | c.127-13378C>T | - | IntronicSNV | - | 1/15 |
11-82581587-C-A | PRCP | c.169-10428G>T | - | IntronicSNV | - | 1/8 |
9-123740484-C-T | C5 | c.3659-1301G>A | - | IntronicSNV | - | 28/40 |
7-72857049-A-G | BAZ1B | c.4094+6T>C | - | IntronicSNV | - | 18/19 |