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 |