Data Browser v2

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


Gene: UNC13A Variant Count: 75   RVIS Percentile: 2.58316%

Variant Gene Transcript AA Change Consequence Allele Count Sample Count MAF CADD Score
19-17716896-G-T UNC13A ENST00000519716 1693S synonymous 403 2390 0.0843 14.07
19-17716964-T-A UNC13A ENST00000519716 I1671F missense 1 2375 2.105E-4 29.5
19-17716986-G-A UNC13A ENST00000519716 1663D synonymous 2 2088 4.789E-4 10.27
19-17717120-C-T UNC13A ENST00000519716 V1619M missense 1 576 8.681E-4 26.3
19-17720812-C-A UNC13A ENST00000519716 R1583L missense 1 2638 1.895E-4 35.0
19-17720874-A-T UNC13A ENST00000519716 1562S synonymous 1 2638 1.895E-4 2.349
19-17722663-G-A UNC13A ENST00000519716 1520G synonymous; splice region 1 2635 1.898E-4 11.94
19-17728572-C-T UNC13A ENST00000519716 1499S synonymous 1038 2525 0.2055 13.72
19-17728611-C-T UNC13A ENST00000519716 1486E synonymous 1 2638 1.895E-4 14.8
19-17729278-C-T UNC13A ENST00000519716 1454L synonymous 1 2588 1.932E-4 13.12
19-17729739-C-T UNC13A ENST00000519716 1435E synonymous 3 2636 5.69E-4 12.92
19-17737486-G-A UNC13A ENST00000519716 1343D synonymous 274 2589 0.0529 11.93
19-17738357-T-C UNC13A ENST00000519716 N1294S missense 2 2593 3.857E-4 14.47
19-17738720-C-T UNC13A ENST00000519716 1261Q synonymous 1 2595 1.927E-4 8.255
19-17740115-G-A UNC13A ENST00000519716 1229L synonymous 286 2627 0.0544 10.63
19-17741047-A-G UNC13A ENST00000519716 1192V synonymous 1412 2422 0.2915 3.104
19-17741050-A-G UNC13A ENST00000519716 1191D synonymous 6 2638 0.0011 4.164
19-17741071-T-C UNC13A ENST00000519716 1184L synonymous 22 2635 0.0042 9.159
19-17741082-C-G UNC13A ENST00000519716 E1181Q missense 1 2631 1.9E-4 27.3
19-17741528-C-T UNC13A ENST00000519716 D1154N missense 5 2634 9.491E-4 25.0
19-17743622-C-A UNC13A ENST00000519716 A1133S missense 423 2607 0.0811 12.93
19-17743623-G-A UNC13A ENST00000519716 1132P synonymous 2 2627 3.807E-4 12.13
19-17743686-G-A UNC13A ENST00000519716 1111A synonymous 6 2624 0.0011 14.38
19-17743927-G-A UNC13A ENST00000519716 1097Y synonymous 1 2636 1.897E-4 10.41
19-17743968-C-T UNC13A ENST00000519716 A1084T missense 1 2635 1.898E-4 34.0
19-17746868-C-T UNC13A ENST00000519716 1060E synonymous 1 2638 1.895E-4 13.27
19-17746940-C-T UNC13A ENST00000519716 1036E synonymous 301 2629 0.0572 14.83
19-17746948-G-C UNC13A ENST00000519716 L1034V missense 1 2638 1.895E-4 23.6
19-17749893-G-A UNC13A ENST00000519716 P1027L missense; splice region 38 2634 0.0072 24.6
19-17749949-G-A UNC13A ENST00000519716 1008Y synonymous 1 2637 1.896E-4 9.797
19-17751335-G-A UNC13A ENST00000519716 924A synonymous 3 2558 5.864E-4 13.34
19-17751359-G-A UNC13A ENST00000519716 916N synonymous 1 2560 1.953E-4 12.31
19-17752216-G-A UNC13A ENST00000519716 874I synonymous 8 2638 0.0015 13.86
19-17753717-A-G UNC13A ENST00000519716 803S synonymous 1 2637 1.896E-4 6.247
19-17756489-T-G UNC13A ENST00000519716 N784H missense 1 2637 1.896E-4 26.1
19-17756550-A-G UNC13A ENST00000519716 763D synonymous 3 2637 5.688E-4 3.629
19-17756584-C-T UNC13A ENST00000519716 R752H missense 1 2635 1.898E-4 34.0
19-17756619-C-T UNC13A ENST00000519716 740V synonymous 6 2636 0.0011 15.41
19-17756820-G-A UNC13A ENST00000519716 715I synonymous 1 2637 1.896E-4 14.3
19-17756833-C-T UNC13A ENST00000519716 R711Q missense 1 2638 1.895E-4 34.0
19-17756898-C-T UNC13A ENST00000519716 689Q synonymous 6 2638 0.0011 14.08
19-17756913-G-A UNC13A ENST00000519716 684C synonymous 1 2638 1.895E-4 8.465
19-17758102-G-A UNC13A ENST00000519716 672S synonymous 1 2614 1.913E-4 12.67
19-17759289-G-C UNC13A ENST00000519716 589V synonymous 454 2569 0.0884 10.05
19-17759295-G-A UNC13A ENST00000519716 587C synonymous 1 2603 1.921E-4 10.52
19-17766107-G-A UNC13A ENST00000519716 456N synonymous 15 2577 0.0029 12.44
19-17766154-G-T UNC13A ENST00000519716 Q441K missense 1 2601 1.922E-4 12.02
19-17766182-C-T UNC13A ENST00000519716 431P synonymous 1 2608 1.917E-4 18.01
19-17766708-G-A UNC13A ENST00000519716 P423S missense 1 2611 1.915E-4 11.12
19-17766737-G-A UNC13A ENST00000519716 A413V missense 1 2612 1.914E-4 1.093
19-17766751-G-A UNC13A ENST00000519716 408P synonymous 2 2606 3.837E-4 10.23
19-17766787-G-A UNC13A ENST00000519716 396P synonymous 12 2594 0.0023 7.382
19-17766819-C-T UNC13A ENST00000519716 D386N missense 1 2578 1.939E-4 21.3
19-17766826-C-T UNC13A ENST00000519716 383G synonymous 3 2575 5.825E-4 13.63
19-17766900-C-T UNC13A ENST00000519716 A359T missense 1513 2153 0.3514 8.476
19-17766904-G-T UNC13A ENST00000519716 S357R missense 2 2574 3.885E-4 12.49
19-17766916-G-A UNC13A ENST00000519716 353D synonymous 1 2576 1.941E-4 12.07
19-17766944-A-G UNC13A ENST00000519716 L344P missense 5 2586 9.667E-4 14.56
19-17767068-A-G UNC13A ENST00000519716 S303P missense 1 2592 1.929E-4 25.5
19-17767082-C-G UNC13A ENST00000519716 R298P missense 1 2564 1.95E-4 23.2
19-17767114-C-A UNC13A ENST00000519716 287L synonymous 2 2511 3.982E-4 15.07
19-17767128-C-T UNC13A ENST00000519716 D283N missense 1 2429 2.058E-4 17.05
19-17767144-G-A UNC13A ENST00000519716 277S synonymous 1 2235 2.237E-4 11.64
19-17767180-A-G UNC13A ENST00000519716 265S synonymous 1 1628 3.071E-4 0.999
19-17767204-G-C UNC13A ENST00000519716 257P synonymous 19 992 0.0096 0.921
19-17768886-T-G UNC13A ENST00000519716 E251A missense 1 2633 1.899E-4 23.2
19-17768913-G-A UNC13A ENST00000519716 S242F missense 1 2638 1.895E-4 24.4
19-17768978-G-A UNC13A ENST00000519716 220N synonymous 1 2638 1.895E-4 9.603
19-17777508-C-G UNC13A ENST00000519716 158S synonymous 707 701 0.4957 16.36
19-17778942-A-G UNC13A ENST00000519716 M151T missense 2 2635 3.795E-4 25.9
19-17780462-C-T UNC13A ENST00000519716 98T synonymous 1 2579 1.939E-4 13.24
19-17783275-G-A UNC13A ENST00000519716 T61M missense 6 2638 0.0011 23.3
19-17783304-G-A UNC13A ENST00000519716 51F synonymous; splice region 7 2634 0.0013 7.067
19-17799002-G-A UNC13A ENST00000519716 3L synonymous 1 1562 3.201E-4 12.38
19-17799009-G-A UNC13A ENST00000428389 88D synonymous 2 1510 6.623E-4 15.24