Table 2.
Possible functional exonic variants of SHARPIN (CADD > 20) in WGS data
| Position (hg19) | Ref/Alt | dbSNP | Population frequency in public database | Protein | CADD score | No. of carriers | |||
|---|---|---|---|---|---|---|---|---|---|
| gnomAD (Total) |
gnomAD (East Asian) |
8.3KJPN | LOAD | MCI | |||||
| 8:145153803 | G/C | NA | NA | NA | NA | p.Pro381Arg | 24.3 | 0 | 1 |
| 8:145153808 | C/T | NA | NA | NA | NA | p.Trp379* | 37.0 | 0 | 1 |
| 8:145153873 | T/C | rs201818510 | 0.000013 | 0.00018 | 0.0001 | p.Thr358Ala | 24.8 | 0 | 1 |
| 8:145154035 | C/– | NA | NA | NA | NA | p.Leu333fs | 21.4 | 1 | 0 |
| 8:145154230 | T/C | rs1378764618 | 0.0000040 | 0.000056 | 0.0029 | p.Asp291Gly | 26.7 | 0 | 2 |
| 8:145154282 | G/A | rs77359862 | 0.0030 | 0.038 | 0.011 | p.Arg274Trp | 25.8 | 1 | 6 |
NA Not available