Data Browser v2

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


Gene: VAPB Variant Count: 10   RVIS Percentile: 53.1906%

Variant Gene Transcript AA Change Consequence Allele Count Sample Count MAF CADD Score
20-57009660-A-T VAPB ENST00000475243 M72L missense; splice region 1 2591 1.93E-4 27.0
20-57009707-G-A VAPB ENST00000475243 87K synonymous 1 2594 1.928E-4 12.63
20-57009747-G-C VAPB ENST00000475243 D101H missense 1 2569 1.946E-4 32.0
20-57014075-T-G VAPB ENST00000475243 D130E missense 5 2627 9.517E-4 17.1
20-57016039-GTTC-G VAPB ENST00000475243 SS158-159S inframe deletion 13 2564 0.0025 19.69
20-57016042-C-T VAPB ENST00000475243 S159F missense 1 2569 1.946E-4 24.0
20-57016058-C-T VAPB ENST00000475243 164T synonymous 2 2576 3.882E-4 14.51
20-57016076-G-A VAPB ENST00000475243 M170I missense 18 2581 0.0035 22.9
20-57016117-G-A VAPB ENST00000475243 R184Q missense 2 2554 3.915E-4 23.0
20-57019227-G-A VAPB ENST00000475243 R223Q missense 1 2638 1.895E-4 26.0