Data Browser v2

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


Gene: SIGMAR1 Variant Count: 7   RVIS Percentile: 59.7606%

Variant Gene Transcript AA Change Consequence Allele Count Sample Count MAF CADD Score
9-34635679-G-A SIGMAR1 ENST00000277010 R208W missense 12 2626 0.0023 34.0
9-34635749-G-A SIGMAR1 ENST00000277010 184F synonymous 10 2630 0.0019 13.99
9-34635845-T-C SIGMAR1 ENST00000277010 152V synonymous 1 2623 1.906E-4 6.993
9-34636992-A-C SIGMAR1 ENST00000277010 - splice donor 1 2597 1.925E-4 25.2
9-34637083-C-T SIGMAR1 ENST00000277010 R119H missense 1 2618 1.91E-4 35.0
9-34637315-T-C SIGMAR1 ENST00000277010 N85S missense 1 1895 2.639E-4 25.5
9-34637690-T-G SIGMAR1 ENST00000277010 Q2P missense 75 188 0.1995 8.111