Data Browser v2

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


Gene: HNRNPA1 Variant Count: 15   RVIS Percentile: 39.6792%

Variant Gene Transcript AA Change Consequence Allele Count Sample Count MAF CADD Score
12-54675242-C-T HNRNPA1 ENST00000340913 30L synonymous 1 2633 1.899E-4 13.93
12-54675599-C-G HNRNPA1 ENST00000340913 51T synonymous 1 2506 1.995E-4 8.11
12-54675885-A-G HNRNPA1 ENST00000340913 97R synonymous 1 2608 1.917E-4 7.036
12-54676182-G-A HNRNPA1 ENST00000340913 165Q synonymous 1 2636 1.897E-4 9.223
12-54676233-A-G HNRNPA1 ENST00000340913 182S synonymous 6 2636 0.0011 8.797
12-54676255-T-G HNRNPA1 ENST00000340913 S190A missense 1 2638 1.895E-4 17.88
12-54676404-G-A HNRNPA1 ENST00000340913 G211S missense 2 2638 3.791E-4 23.0
12-54676412-T-C HNRNPA1 ENST00000340913 213N synonymous 1 2638 1.895E-4 4.238
12-54676421-C-T HNRNPA1 ENST00000340913 216F synonymous 1 2638 1.895E-4 15.22
12-54676639-T-C HNRNPA1 ENST00000340913 244Y synonymous 1 2638 1.895E-4 1.151
12-54676905-G-C HNRNPA1 ENST00000340913 R265T missense 1 2619 1.909E-4 17.54
12-54677636-G-T HNRNPA1 ENST00000340913 316G synonymous 1 2610 1.916E-4 9.461
12-54677647-A-G HNRNPA1 ENST00000340913 N320S missense 1 2618 1.91E-4 17.65
12-54678044-G-A HNRNPA1 ENST00000340913 G356S missense; splice region 1 2637 1.896E-4 22.7
12-54678053-G-A HNRNPA1 ENST00000340913 G359S missense 1 2637 1.896E-4 22.4