Data Browser v2

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


Gene: UBQLN2 Variant Count: 11   RVIS Percentile: 28.6329%

Variant Gene Transcript AA Change Consequence Allele Count Sample Count MAF CADD Score
X-56590359-C-T UBQLN2 ENST00000338222 A18V missense 1 1653 3.935E-4 16.65
X-56590450-G-A UBQLN2 ENST00000338222 48V synonymous 2 2161 3.147E-4 2.165
X-56590528-G-C UBQLN2 ENST00000338222 74L synonymous 1 2408 2.879E-4 0.333
X-56590762-A-T UBQLN2 ENST00000338222 152A synonymous 2 2562 2.746E-4 0.009
X-56590871-C-A UBQLN2 ENST00000338222 P189T missense 1 2354 2.927E-4 24.6
X-56591299-T-C UBQLN2 ENST00000338222 331T synonymous 1 2591 2.721E-4 0.015
X-56591334-G-A UBQLN2 ENST00000338222 G343D missense 1 2570 2.737E-4 6.574
X-56591366-G-A UBQLN2 ENST00000338222 V354I missense 1 2518 2.78E-4 0.001
X-56591689-G-A UBQLN2 ENST00000338222 461G synonymous 13 2627 0.003 1.174
X-56591767-C-A UBQLN2 ENST00000338222 487T synonymous 32 2593 0.0071 14.18
X-56591822-C-T UBQLN2 ENST00000338222 P506S missense 1 2578 2.739E-4 13.35