Data Browser v2

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


Gene: CHCHD10 Variant Count: 15   RVIS Percentile: null

Variant Gene Transcript AA Change Consequence Allele Count Sample Count MAF CADD Score
22-24108321-A-G CHCHD10 ENST00000484558 Y135H missense 1 2610 1.916E-4 15.09
22-24108345-C-T CHCHD10 ENST00000484558 E127K missense 1 2603 1.921E-4 34.0
22-24108346-G-A CHCHD10 ENST00000520222 A53V missense 1 2603 1.921E-4 13.26
22-24108360-A-G CHCHD10 ENST00000484558 C122R missense 1 2604 1.92E-4 26.6
22-24108412-G-A CHCHD10 ENST00000517886 R87* stop gain 984 909 0.4587 8.692
22-24108438-G-T CHCHD10 ENST00000484558 P96T missense 8 2541 0.0016 23.4
22-24108450-C-G CHCHD10 ENST00000484558 A92P missense 12 2464 0.0024 0.013
22-24108450-C-T CHCHD10 ENST00000484558 A92T missense 1 2530 1.976E-4 0.035
22-24108456-T-G CHCHD10 ENST00000484558 T90P missense 1 2505 1.996E-4 0.028
22-24109583-G-A CHCHD10 ENST00000484558 P80L missense 1 2482 2.015E-4 24.0
22-24109588-C-T CHCHD10 ENST00000517886 G61R missense 48 2467 0.0097 18.33
22-24109626-C-T CHCHD10 ENST00000484558 G66S missense 1 2254 2.218E-4 34.0
22-24109722-G-A CHCHD10 ENST00000484558 P34S missense 3 453 0.0033 7.591
22-24109774-T-G CHCHD10 ENST00000484558 16P synonymous 19 20 0.475 7.361
22-24110046-G-C CHCHD10 ENST00000484558 R6G missense 1 1284 3.894E-4 25.1