Data Browser v2

Examples - Gene: TBK1, Region: 21:33032075-33040899, Variant: 14-21162090-G-A


Gene: TBK1 Variant Count: 42   RVIS Percentile: 33.2036%

Variant Gene Transcript AA Change Consequence Allele Count Sample Count MAF CADD Score
12-64849690-A-G TBK1 ENST00000331710 I14V missense 1 2619 1.909E-4 6.035
12-64849714-A-C TBK1 ENST00000331710 N22H missense 1 2619 1.909E-4 25.0
12-64849716-T-C TBK1 ENST00000331710 22N synonymous 266 2611 0.0509 2.028
12-64854016-C-T TBK1 ENST00000331710 45F synonymous 8 2593 0.0015 14.1
12-64854067-C-T TBK1 ENST00000331710 62L synonymous 1 2607 1.918E-4 12.51
12-64854098-A-G TBK1 ENST00000331710 I73V missense 1 2606 1.919E-4 7.899
12-64860717-T-A TBK1 ENST00000331710 V132E missense 1 2596 1.926E-4 32.0
12-64860723-G-A TBK1 ENST00000331710 R134H missense 1 2600 1.923E-4 34.0
12-64860760-G-A TBK1 ENST00000331710 146G synonymous 1 2608 1.917E-4 11.33
12-64860828-A-G TBK1 ENST00000331710 Q169R missense 1 2609 1.916E-4 27.0
12-64868152-G-A TBK1 ENST00000331710 R228H missense 2 2572 3.888E-4 34.0
12-64873860-T-C TBK1 ENST00000331710 I257T missense 1 2579 1.939E-4 26.5
12-64875638-C-G TBK1 ENST00000331710 L277V missense 1 2577 1.94E-4 24.0
12-64875641-ACCCCTGTT-A TBK1 ENST00000331710 278-280 frameshift 1 2577 1.94E-4 35.0
12-64875725-C-A TBK1 ENST00000331710 L306I missense 1 2562 1.952E-4 28.6
12-64875735-T-C TBK1 ENST00000331710 M309T missense 1 2555 1.957E-4 9.949
12-64875787-T-A TBK1 ENST00000331710 326I synonymous 1541 1840 0.4187 8.372
12-64875801-C-T TBK1 ENST00000331710 T331I missense; splice region 1 2393 2.089E-4 23.6
12-64875802-G-A TBK1 ENST00000331710 - splice donor 1 2384 2.097E-4 24.5
12-64878118-C-G TBK1 ENST00000331710 T343S missense 1 2559 1.954E-4 28.0
12-64878159-C-T TBK1 ENST00000331710 R357* stop gain 1 2582 1.936E-4 37.0
12-64878160-G-A TBK1 ENST00000331710 R357Q missense 1 2585 1.934E-4 22.6
12-64878200-C-T TBK1 ENST00000331710 370F synonymous 7 2607 0.0013 12.23
12-64878206-A-G TBK1 ENST00000331710 372K synonymous 1 2605 1.919E-4 1.476
12-64878225-A-G TBK1 ENST00000331710 I379V missense 1 2598 1.925E-4 23.5
12-64879235-T-C TBK1 ENST00000331710 I397T missense; splice region 1 2292 2.182E-4 15.71
12-64879254-T-C TBK1 ENST00000331710 403H synonymous 1 2340 2.137E-4 0.018
12-64879719-TTG-T TBK1 ENST00000331710 421-422 frameshift 1 2496 2.003E-4 35.0
12-64879776-G-A TBK1 ENST00000331710 R440Q missense 1 2461 2.032E-4 33.0
12-64882311-CAG-C TBK1 ENST00000331710 462-463 frameshift 1 2599 1.924E-4 35.0
12-64882317-T-C TBK1 ENST00000331710 V464A missense 113 2598 0.0217 19.76
12-64883874-C-G TBK1 ENST00000331710 S499* stop gain 1 2508 1.994E-4 41.0
12-64889303-A-G TBK1 ENST00000331710 D521G missense 1 2439 2.05E-4 19.65
12-64889307-C-G TBK1 ENST00000331710 I522M missense 1 2440 2.049E-4 0.106
12-64889308-G-A TBK1 ENST00000331710 D523N missense 1 2452 2.039E-4 12.35
12-64889529-A-C TBK1 ENST00000331710 Q565P missense 1 2396 2.087E-4 26.4
12-64889553-G-A TBK1 ENST00000331710 R573H missense; splice region 1 2294 2.18E-4 28.7
12-64890760-A-G TBK1 ENST00000331710 M598V missense 1 2509 1.993E-4 0.214
12-64891000-TGAA-T TBK1 ENST00000331710 E641- inframe deletion 1 2169 2.305E-4 21.1
12-64891515-T-C TBK1 ENST00000331710 683L synonymous 2 2601 3.845E-4 5.757
12-64891516-T-C TBK1 ENST00000331710 L683S missense 1 2601 1.922E-4 23.2
12-64891810-T-A TBK1 ENST00000331710 I710N missense 1 2594 1.928E-4 32.0