Data Browser v2

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


Gene: TARDBP Variant Count: 21   RVIS Percentile: 27.418%

Variant Gene Transcript AA Change Consequence Allele Count Sample Count MAF CADD Score
1-11073852-A-C TARDBP ENST00000240185 D23A missense 1 2484 2.013E-4 27.7
1-11073982-T-C TARDBP ENST00000439080 L5P missense 28 2638 0.0053 9.863
1-11076937-C-T TARDBP ENST00000240185 S92L missense 1 2633 1.899E-4 23.5
1-11080530-G-A TARDBP ENST00000240185 196G synonymous 1 2638 1.895E-4 12.47
1-11082266-A-G TARDBP ENST00000240185 N267S missense 1 2479 2.017E-4 9.639
1-11082325-G-A TARDBP ENST00000240185 G287S missense 2 2479 4.034E-4 22.7
1-11082347-G-T TARDBP ENST00000240185 G294V missense 2 2479 4.034E-4 18.89
1-11082349-G-C TARDBP ENST00000240185 G295R missense 1 2479 2.017E-4 22.5
1-11082358-G-A TARDBP ENST00000240185 G298S missense 1 2479 2.017E-4 22.6
1-11082397-A-G TARDBP ENST00000240185 M311V missense 1 2479 2.017E-4 12.87
1-11082411-G-A TARDBP ENST00000240185 315A synonymous 1 2479 2.017E-4 5.552
1-11082475-A-G TARDBP ENST00000240185 M337V missense 2 2479 4.034E-4 8.93
1-11082483-G-A TARDBP ENST00000240185 M339I missense 1 2479 2.017E-4 18.48
1-11082492-C-T TARDBP ENST00000240185 342S synonymous 1 2479 2.017E-4 6.094
1-11082501-C-A TARDBP ENST00000240185 N345K missense 1 2479 2.017E-4 14.46
1-11082536-G-A TARDBP ENST00000240185 G357D missense 1 2479 2.017E-4 25.3
1-11082564-C-G TARDBP ENST00000240185 366A synonymous 1 2479 2.017E-4 8.61
1-11082588-T-C TARDBP ENST00000240185 374Y synonymous 2 2479 4.034E-4 0.002
1-11082589-A-G TARDBP ENST00000240185 S375G missense 1 2479 2.017E-4 9.148
1-11082613-A-G TARDBP ENST00000240185 I383V missense 2 2479 4.034E-4 0.308
1-11082635-A-G TARDBP ENST00000240185 N390S missense 1 2479 2.017E-4 11.03