Data Browser v2

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


Gene: OPTN Variant Count: 35   RVIS Percentile: 18.719%

Variant Gene Transcript AA Change Consequence Allele Count Sample Count MAF CADD Score
10-13151189-G-T OPTN ENST00000378748 G23* stop gain 1 2630 1.901E-4 37.0
10-13151191-A-AC OPTN ENST00000378748 23-24 frameshift 1 2632 1.9E-4 29.9
10-13151224-G-A OPTN ENST00000378748 34T synonymous 1108 2469 0.2244 11.51
10-13151245-G-A OPTN ENST00000378748 41L synonymous 61 2626 0.0116 8.421
10-13152284-G-C OPTN ENST00000378748 K59N missense 2 2606 3.837E-4 24.8
10-13152374-G-A OPTN ENST00000378748 89Q synonymous 1 2616 1.911E-4 3.971
10-13152400-T-A OPTN ENST00000378748 M98K missense 128 2627 0.0244 3.196
10-13154466-A-T OPTN ENST00000378748 D128V missense 1 2624 1.905E-4 7.963
10-13154485-C-A OPTN ENST00000378748 134A synonymous 1 2625 1.905E-4 13.79
10-13154530-G-A OPTN ENST00000378748 149R synonymous 1 2634 1.898E-4 5.83
10-13154572-A-G OPTN ENST00000378748 163E synonymous 12 2634 0.0023 9.529
10-13154576-C-T OPTN ENST00000378748 Q165* stop gain 1 2635 1.898E-4 39.0
10-13154596-C-T OPTN ENST00000378748 171S synonymous 1 2634 1.898E-4 12.91
10-13160930-G-T OPTN ENST00000378748 K223N missense 1 2638 1.895E-4 12.16
10-13160964-C-T OPTN ENST00000378748 Q235* stop gain 1 2638 1.895E-4 39.0
10-13164481-G-A OPTN ENST00000378748 292P synonymous 1 2638 1.895E-4 9.296
10-13166021-C-A OPTN ENST00000378748 N303K missense 2 2632 3.799E-4 7.777
10-13166053-A-T OPTN ENST00000378748 Q314L missense 3 2629 5.706E-4 25.3
10-13166075-C-T OPTN ENST00000378748 321S synonymous 1 2624 1.905E-4 11.12
10-13166076-A-G OPTN ENST00000378748 K322E missense 229 117 0.0214 12.24
10-13167466-T-C OPTN ENST00000378748 349N synonymous 1 2610 1.916E-4 2.92
10-13167507-T-C OPTN ENST00000378748 L363P missense 1 2619 1.909E-4 26.6
10-13167946-G-A OPTN ENST00000378748 383K synonymous; splice region 1 2580 1.938E-4 11.46
10-13167998-AATAATGC-A OPTN ENST00000378748 401-403 frameshift 1 2575 1.942E-4 -
10-13168035-AAG-A OPTN ENST00000378748 413-414 frameshift 1 2544 1.965E-4 34.0
10-13169814-G-A OPTN ENST00000378748 A438T missense 1 2632 1.9E-4 32.0
10-13169826-C-T OPTN ENST00000378748 442L synonymous 3 2634 5.695E-4 10.27
10-13169904-G-A OPTN ENST00000378748 - splice donor 1 2634 1.898E-4 24.8
10-13174107-C-T OPTN ENST00000378748 A481V missense 1 2621 1.908E-4 35.0
10-13174164-T-C OPTN ENST00000378748 L500P missense 1 2624 1.905E-4 28.6
10-13175549-ACT-A OPTN ENST00000378748 527-528 frameshift 1 2630 1.901E-4 23.2
10-13178763-G-A OPTN ENST00000378748 W544* stop gain 1 2632 1.9E-4 44.0
10-13178766-G-A OPTN ENST00000378748 R545Q missense 3 2632 5.699E-4 0.031
10-13178832-C-G OPTN ENST00000378748 T567R missense 1 2631 1.9E-4 29.4
10-13178851-G-A OPTN ENST00000378748 M573I missense 1 2634 1.898E-4 23.6