Data Browser v2

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


Gene: AL163636.6 Variant Count: 23   RVIS Percentile: null

Variant Gene Transcript AA Change Consequence Allele Count Sample Count MAF CADD Score
14-21161726-G-A ANG ENST00000336811 M1I initiator codon 1 2637 1.896E-4 23.1
14-21161776-T-TGACCCC ANG ENST00000336811 L18LTP inframe insertion 1 2638 1.895E-4 -
14-21161784-C-T ANG ENST00000336811 P21S missense 1 2638 1.895E-4 11.05
14-21161811-TAC-T ANG ENST00000336811 30 frameshift 2 2638 3.791E-4 24.4
14-21161845-A-T ANG ENST00000336811 K41I missense 8 2638 0.0015 10.19
14-21161931-A-G ANG ENST00000336811 I70V missense 8 2637 0.0015 0.133
14-21161958-G-T ANG ENST00000336811 A79S missense 1 2637 1.896E-4 22.8
14-21162053-T-G ANG ENST00000336811 110G synonymous 651 2602 0.1251 0.434
14-21162079-G-T ANG ENST00000336811 R119L missense 1 2638 1.895E-4 26.2
14-21162086-A-T ANG ENST00000336811 121T synonymous 4 2638 7.582E-4 0.004
14-21162090-G-A ANG ENST00000336811 G123R missense 1 2638 1.895E-4 10.42
14-21167576-A-T RNASE4 ENST00000555835 T16S missense 680 2587 0.1314 24.7
14-21167633-C-T RNASE4 ENST00000555835 R35* stop gain 1 2625 1.905E-4 36.0
14-21167642-C-T RNASE4 ENST00000555835 R38W missense 27 2630 0.0051 24.8
14-21167651-G-A RNASE4 ENST00000555835 V41M missense 1 2632 1.9E-4 14.51
14-21167681-C-T RNASE4 ENST00000555835 R51C missense 1 2629 1.902E-4 11.8
14-21167729-T-C RNASE4 ENST00000555835 C67R missense 1 2633 1.899E-4 24.7
14-21167758-A-C RNASE4 ENST00000555835 E76D missense 2 2634 3.797E-4 23.0
14-21167763-T-C RNASE4 ENST00000555835 I78T missense 1 2634 1.898E-4 26.2
14-21167829-A-C RNASE4 ENST00000555835 H100P missense 1 2609 1.916E-4 27.4
14-21167833-G-A RNASE4 ENST00000555835 101E synonymous 3 2609 5.749E-4 11.7
14-21167837-G-A RNASE4 ENST00000555835 V103I missense 1 2606 1.919E-4 17.41
14-21167919-G-A RNASE4 ENST00000555835 R130H missense 1 2612 1.914E-4 10.42