Data Browser v2

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


Gene: CHMP2B Variant Count: 14   RVIS Percentile: 41.6431%

Variant Gene Transcript AA Change Consequence Allele Count Sample Count MAF CADD Score
3-87276693-G-A CHMP2B ENST00000263780 7K synonymous 1 2638 1.895E-4 14.16
3-87276699-C-T CHMP2B ENST00000263780 9T synonymous 417 2623 0.0795 20.3
3-87276707-G-A CHMP2B ENST00000263780 - splice donor 1 2638 1.895E-4 25.2
3-87289878-C-T CHMP2B ENST00000263780 R22* stop gain 1 2527 1.979E-4 39.0
3-87289899-A-G CHMP2B ENST00000263780 I29V missense 3 2559 5.862E-4 14.12
3-87294878-GA-G CHMP2B ENST00000263780 48 frameshift 1 2516 1.987E-4 -
3-87294912-A-G CHMP2B ENST00000263780 K59E missense 1 2528 1.978E-4 19.7
3-87294924-A-G CHMP2B ENST00000263780 K63E missense 2 2520 3.968E-4 28.5
3-87295049-T-C CHMP2B ENST00000263780 104T synonymous 528 403 0.3449 8.828
3-87299048-G-A CHMP2B ENST00000263780 115K synonymous 1 2565 1.949E-4 15.16
3-87299067-T-C CHMP2B ENST00000263780 122L synonymous 3 2562 5.855E-4 7.799
3-87299075-A-C CHMP2B ENST00000263780 124T synonymous 397 2537 0.0782 0.611
3-87302557-A-G CHMP2B ENST00000263780 N143S missense 1 2387 2.095E-4 12.38
3-87302890-G-A CHMP2B ENST00000263780 S187N missense 1 2211 2.261E-4 13.3