Data Browser v2

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


Region: 21:33032075-33040899 Variant Count: 22

Variant Gene Transcript AA Change Consequence Allele Count Sample Count MAF CADD Score
21-33032096-C-T SOD1 ENST00000270142 A5V missense 7 2609 0.0013 27.3
21-33032109-G-A SOD1 ENST00000270142 9L synonymous 1 2615 1.912E-4 9.373
21-33032131-G-A SOD1 ENST00000270142 G17S missense 1 2607 1.918E-4 26.2
21-33032141-A-G SOD1 ENST00000270142 N20S missense 2 2603 3.842E-4 1.291
21-33032146-G-C SOD1 ENST00000270142 E22Q missense 1 2599 1.924E-4 17.58
21-33036161-A-G SOD1 ENST00000270142 H44R missense 1 2638 1.895E-4 20.4
21-33036169-C-G SOD1 ENST00000270142 H47D missense 1 2638 1.895E-4 26.0
21-33036178-G-A SOD1 ENST00000270142 E50K missense 1 2637 1.896E-4 22.9
21-33038766-T-C SOD1 ENST00000270142 58C synonymous 1 2618 1.91E-4 6.766
21-33038772-T-C SOD1 ENST00000270142 60S synonymous 2 2617 3.821E-4 10.06
21-33038791-C-T SOD1 ENST00000270142 P67S missense 1 2627 1.903E-4 32.0
21-33039573-A-G SOD1 ENST00000270142 H81R missense; splice region 1 2638 1.895E-4 24.3
21-33039600-C-T SOD1 ENST00000270142 A90V missense 1 2636 1.897E-4 23.4
21-33039602-G-A SOD1 ENST00000270142 D91N missense 1 2637 1.896E-4 10.6
21-33039603-A-C SOD1 ENST00000270142 D91A missense 5 2635 9.488E-4 0.265
21-33039612-G-A SOD1 ENST00000270142 G94D missense 1 2637 1.896E-4 25.1
21-33039672-T-C SOD1 ENST00000270142 I114T missense 8 2632 0.0015 26.3
21-33039686-G-C SOD1 ENST00000270142 V119L missense; splice region 1 2631 1.9E-4 28.7
21-33040803-A-C SOD1 ENST00000270142 D126A missense 1 2603 1.921E-4 29.4
21-33040849-T-A SOD1 ENST00000270142 141A synonymous 2 2572 3.888E-4 13.21
21-33040861-G-C SOD1 ENST00000270142 L145F missense 2 2560 3.906E-4 23.9
21-33040874-A-G SOD1 ENST00000270142 I150V missense 3 2561 5.857E-4 17.64