Data Browser v1

Examples - Gene: DNM1, Region: 15:26792932-26818879, Variant: 9-140509398-A-G


Gene: ARRDC1 Variant Count: 11   RVIS Percentile: 62.096%

Variant Gene Transcript AA Change Consequence Allele Count Sample Count MAF CADD Score
9-140500200-C-A ARRDC1 ENST00000371421 L11M missense 1 132 0.0038 24.9
9-140507414-TGGA-T ARRDC1 ENST00000371421 VE62-63V inframe deletion 1 168 0.003 16.36
9-140508136-C-T ARRDC1 ENST00000371421 T117M missense 1 168 0.003 32.0
9-140508600-G-C ARRDC1 ENST00000371421 Q184H missense 1 168 0.003 14.2
9-140509075-A-C ARRDC1 ENST00000371421 N287T missense 9 167 0.0269 24.3
9-140509096-G-A ARRDC1 ENST00000371421 R294Q missense 1 167 0.003 0.014
9-140509209-G-A ARRDC1 ENST00000371421 V332I missense 1 168 0.003 3.4
9-140509239-C-T ARRDC1 ENST00000371421 R342W missense 2 168 0.006 24.8
9-140509243-A-G ARRDC1 ENST00000371421 Q343R missense 1 168 0.003 2.716
9-140509302-G-T ARRDC1 ENST00000371421 G363C missense 29 168 0.0863 9.149
9-140509398-A-G ARRDC1 ENST00000371421 T395A missense 1 168 0.003 0.375