Data Browser v2

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


Gene: ELP3 Variant Count: 20   RVIS Percentile: 7.37202%

Variant Gene Transcript AA Change Consequence Allele Count Sample Count MAF CADD Score
8-27954794-G-A ELP3 ENST00000256398 26L synonymous 1 2439 2.05E-4 8.907
8-27957364-G-A ELP3 ENST00000256398 A47T missense 1 2638 1.895E-4 24.4
8-27957392-G-A ELP3 ENST00000256398 R56H missense 1 2637 1.896E-4 32.0
8-27957484-G-A ELP3 ENST00000256398 - splice donor 1 2636 1.897E-4 26.8
8-27967947-A-G ELP3 ENST00000256398 I152V missense 1 2615 1.912E-4 6.523
8-27989865-CAT-C ELP3 ENST00000256398 284 frameshift 1 2580 1.938E-4 35.0
8-27995245-G-A ELP3 ENST00000256398 D313N missense 1 2626 1.904E-4 34.0
8-27995254-A-T ELP3 ENST00000256398 K316* stop gain 1 2628 1.903E-4 40.0
8-27995269-C-T ELP3 ENST00000256398 321L synonymous 1 2632 1.9E-4 14.47
8-27995360-G-A ELP3 ENST00000256398 R351Q missense 1 2624 1.905E-4 23.7
8-27995376-G-A ELP3 ENST00000256398 356V synonymous 2 2621 3.815E-4 11.44
8-27995393-T-C ELP3 ENST00000256398 V362A missense 1 2615 1.912E-4 23.7
8-28013534-A-C ELP3 ENST00000256398 K392N missense 1 2575 1.942E-4 19.93
8-28016149-A-G ELP3 ENST00000256398 Q419R missense; splice region 1 2365 2.114E-4 20.7
8-28017789-A-G ELP3 ENST00000256398 E434G missense 1 2596 1.926E-4 32.0
8-28017805-C-T ELP3 ENST00000256398 439Y synonymous 1 2589 1.931E-4 12.14
8-28017859-A-G ELP3 ENST00000256398 457S synonymous 1 2526 1.979E-4 7.337
8-28017883-G-T ELP3 ENST00000256398 L465F missense 1 2454 2.037E-4 25.6
8-28017947-C-T ELP3 ENST00000256398 R487W missense 4 2081 9.611E-4 29.7
8-28047234-C-G ELP3 ENST00000256398 L546V missense 1 2613 1.914E-4 27.8