Data Browser v2

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


Gene: ANG Variant Count: 11   RVIS Percentile: 68.9844%

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