Data Browser v2

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


Gene: SPAST Variant Count: 17   RVIS Percentile: 48.5433%

Variant Gene Transcript AA Change Consequence Allele Count Sample Count MAF CADD Score
2-32288954-C-T SPAST ENST00000315285 18N synonymous 1 2501 1.999E-4 6.374
2-32289024-C-A SPAST ENST00000315285 P42T missense 1 2562 1.952E-4 10.69
2-32289025-C-A SPAST ENST00000315285 P42H missense 1 2563 1.951E-4 16.0
2-32289031-C-T SPAST ENST00000315285 S44L missense 58 2564 0.0113 23.3
2-32289034-C-A SPAST ENST00000315285 P45Q missense 4 2569 7.785E-4 18.18
2-32289184-C-G SPAST ENST00000315285 A95G missense 2 2370 4.219E-4 12.47
2-32289315-G-C SPAST ENST00000315285 A139P missense; splice region 1 1519 3.292E-4 19.65
2-32312629-G-A SPAST ENST00000315285 V162I missense 6 2603 0.0012 19.06
2-32314643-G-C SPAST ENST00000315285 L185F missense 1 2637 1.896E-4 25.5
2-32323919-A-G SPAST ENST00000315285 D214G missense 1 2610 1.916E-4 23.0
2-32340779-G-A SPAST ENST00000315285 293P synonymous 68 2603 0.0131 11.78
2-32340826-G-A SPAST ENST00000315285 R309H missense 1 2612 1.914E-4 23.5
2-32341260-T-C SPAST ENST00000315285 359I synonymous 1 2485 2.012E-4 7.587
2-32362225-T-C SPAST ENST00000315285 487N synonymous 1 2539 1.969E-4 1.987
2-32370014-A-G SPAST ENST00000315285 D542G missense 3 2598 5.774E-4 24.5
2-32379449-A-C SPAST ENST00000315285 N579H missense 4 2414 8.285E-4 23.2
2-32379522-C-T SPAST ENST00000315285 A603V missense 1 2493 2.006E-4 23.2