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


Gene: FIG4 Variant Count: 48   RVIS Percentile: 32.1715%

Variant Gene Transcript AA Change Consequence Allele Count Sample Count MAF CADD Score
6-110012665-C-T FIG4 ENST00000230124 9I synonymous 30 2562 0.0059 14.43
6-110012671-G-C FIG4 ENST00000230124 11S synonymous 2 2561 3.905E-4 12.93
6-110036280-G-A FIG4 ENST00000230124 - split acceptor 1 2597 1.925E-4 26.4
6-110036294-T-C FIG4 ENST00000230124 V27A missense 1 2597 1.925E-4 26.9
6-110036316-G-A FIG4 ENST00000230124 34T synonymous 1 2595 1.927E-4 12.81
6-110036330-T-C FIG4 ENST00000230124 L39S missense 1 2596 1.926E-4 25.8
6-110036336-T-C FIG4 ENST00000230124 I41T missense 9 2598 0.0017 26.5
6-110037657-A-G FIG4 ENST00000230124 T59A missense 1 2626 1.904E-4 16.22
6-110037687-C-T FIG4 ENST00000230124 R69C missense 1 2633 1.899E-4 29.8
6-110037718-G-A FIG4 ENST00000230124 G79E missense 1 2634 1.898E-4 21.5
6-110037725-A-G FIG4 ENST00000230124 81K synonymous 2 2634 3.797E-4 6.731
6-110037748-C-T FIG4 ENST00000230124 A89V missense 1 2634 1.898E-4 20.9
6-110053838-A-T FIG4 ENST00000230124 - split acceptor 10 2056 0.0024 24.7
6-110056361-A-G FIG4 ENST00000230124 Y169C missense 1 2478 2.018E-4 29.3
6-110059562-A-G FIG4 ENST00000230124 227K synonymous 1 2544 1.965E-4 5.294
6-110062705-A-T FIG4 ENST00000230124 K278N missense 4 2331 8.58E-4 22.7
6-110062708-T-G FIG4 ENST00000230124 F279L missense 1 2330 2.146E-4 24.7
6-110064355-G-A FIG4 ENST00000230124 D307N missense 1 2396 2.087E-4 33.0
6-110064928-A-T FIG4 ENST00000230124 M364L missense 180 2437 0.0369 11.48
6-110081557-T-C FIG4 ENST00000230124 414I synonymous 3 2596 5.778E-4 7.908
6-110083363-T-C FIG4 ENST00000230124 447F synonymous 1 2621 1.908E-4 4.179
6-110083370-C-A FIG4 ENST00000230124 R450S missense 1 2620 1.908E-4 22.2
6-110083370-C-T FIG4 ENST00000230124 R450C missense 1 2620 1.908E-4 23.8
6-110083391-A-AT FIG4 ENST00000230124 457 frameshift 1 2615 1.912E-4 35.0
6-110083408-A-G FIG4 ENST00000230124 462E synonymous; splice region 1 2606 1.919E-4 12.37
6-110086355-A-G FIG4 ENST00000230124 D525G missense 1 2617 1.911E-4 24.3
6-110087935-ATT-A FIG4 ENST00000230124 530 frameshift 1 2622 1.907E-4 35.0
6-110098181-G-GGGAA FIG4 ENST00000230124 603 frameshift 1 2613 1.914E-4 35.0
6-110098183-G-A FIG4 ENST00000230124 603G synonymous 1 2613 1.914E-4 11.07
6-110098203-T-A FIG4 ENST00000230124 L610H missense 1 2615 1.912E-4 28.9
6-110098237-C-A FIG4 ENST00000230124 621T synonymous 1 2602 1.922E-4 19.3
6-110106211-T-A FIG4 ENST00000230124 L643* stop gain 1 2576 1.941E-4 41.0
6-110106223-A-G FIG4 ENST00000230124 Y647C missense 2 2581 3.874E-4 22.0
6-110107517-T-C FIG4 ENST00000230124 V654A missense 656 2491 0.1317 3.349
6-110107580-A-G FIG4 ENST00000230124 N675S missense 1 2593 1.928E-4 11.69
6-110107636-A-G FIG4 ENST00000419951 M1V initiator codon 2 2602 3.843E-4 22.1
6-110107652-G-A FIG4 ENST00000230124 R699H missense; splice region 1 2592 1.929E-4 34.0
6-110110816-G-A FIG4 ENST00000230124 V706I missense 1 2607 1.918E-4 17.76
6-110110841-C-T FIG4 ENST00000230124 T714I missense 1 2610 1.916E-4 23.0
6-110112597-A-G FIG4 ENST00000230124 733E synonymous 1 2634 1.898E-4 11.18
6-110112598-G-A FIG4 ENST00000230124 E734K missense 2 2633 3.798E-4 29.6
6-110112607-T-C FIG4 ENST00000230124 737L synonymous 1 2634 1.898E-4 7.574
6-110113852-T-C FIG4 ENST00000230124 F815S missense 1 2638 1.895E-4 23.2
6-110118055-G-GT FIG4 ENST00000230124 - splice donor 1 2608 1.917E-4 -
6-110146290-G-A FIG4 ENST00000230124 - split acceptor 2 2440 4.098E-4 25.1
6-110146303-G-A FIG4 ENST00000230124 853S synonymous 1334 2073 0.3218 8.938
6-110146404-T-C FIG4 ENST00000230124 M887T missense 1 2382 2.099E-4 7.241
6-110146406-C-T FIG4 ENST00000230124 Q888* stop gain 1 2381 2.1E-4 44.0