Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
1-68694307-C-A | WLS | c.106+3570G>T | - | IntronicSNV | - | 1/11 |
1-68694307-C-T | WLS | c.106+3570G>A | - | IntronicSNV | - | 1/11 |
1-236902560-C-G | ACTN2 | c.877-42C>G | - | IntronicSNV | - | 9/20 |
2-80181443-G-A | CTNNA2 | c.1056+44520G>A | - | IntronicSNV | - | 7/17 |
20-33844938-A-C | MMP24 | c.817+2381A>C | - | IntronicSNV | - | 4/8 |
20-60058986-C-T | CDH4 | c.169+228993C>T | - | IntronicSNV | - | 2/15 |
10-79553236-A-C | DLG5 | c.5656+530T>G | - | IntronicSNV | - | 31/31 |
7-42245499-C-T | GLI3 | c.124+17230G>A | - | IntronicSNV | - | 2/14 |
3-25552252-G-T | RARB | c.448+9438G>T | - | IntronicSNV | - | 3/7 |
1-201256771-G-A | PKP1 | c.202+3739G>A | - | IntronicSNV | - | 1/14 |
1-201256771-G-T | PKP1 | c.202+3739G>T | - | IntronicSNV | - | 1/14 |
11-103797349-G-A | PDGFD | c.987+291C>T | - | IntronicSNV | - | 6/6 |
1-236902560-C-T | ACTN2 | c.877-42C>T | - | IntronicSNV | - | 9/20 |
16-31132250-A-G | KAT8 | c.462+415A>G | - | IntronicSNV | - | 3/10 |
22-33224285-C-T | TIMP3 | c.122-21154C>T | - | IntronicSNV | - | 1/4 |
7-116200587-C-T | CAV1 | c.*1246C>T | - | 3-UTRSNV | 3/3 | - |
8-72216430-T-C | EYA1 | c.557-4475A>G | - | IntronicSNV | - | 7/17 |
7-120976886-A-G | WNT16 | c.634-2049A>G | - | IntronicSNV | - | 3/3 |
3-189582501-A-T | TP63 | c.766+294A>T | - | IntronicSNV | - | 5/13 |
3-189582501-A-G | TP63 | c.766+294A>G | - | IntronicSNV | - | 5/13 |
7-37948714-G-A | SFRP4 | c.855+505C>T | - | IntronicSNV | - | 5/5 |
6-13590185-A-G | SIRT5 | c.249+1489A>G | - | IntronicSNV | - | 4/8 |
12-124875577-C-T | NCOR2 | c.1877-5144G>A | - | IntronicSNV | - | 18/48 |
7-121002328-T-G | FAM3C | c.382+623A>C | - | IntronicSNV | - | 7/9 |
7-121002328-T-A | FAM3C | c.382+623A>T | - | IntronicSNV | - | 7/9 |
18-48586184-A-G | SMAD4 | c.905-52A>G | - | IntronicSNV | - | 7/11 |