Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 22341 | chr8 | 138151549 | G | A |
c.2926C>T
|
p.Pro976Ser
|
- | 3.0 |
|
B | |
| 23138 | chr8 | 138151719 | G | A |
c.2756C>T
|
p.Ser919Phe
|
- | 3.0 |
|
B | |
| 16238 | chr8 | 138151760 | C | A |
c.2715G>T
|
p.Lys905Asn
|
- | 3.0 |
|
B | |
| 23339 | chr8 | 138151800 | C | T |
c.2675G>A
|
p.Arg892Lys
|
- | 3.0 |
|
B | |
| 32270 | chr8 | 138151990 | G | T |
c.2485C>A
|
p.Leu829Met
|
- | 3.0 |
|
B | |
| 21876 | chr8 | 138152150 | G | T |
c.2325C>A
|
p.His775Gln
|
- | 3.0 |
|
B | |
| 15562 | chr8 | 138152158 | C | A |
c.2317G>T
|
p.Ala773Ser
|
- | 3.0 |
|
B | |
| 25544 | chr8 | 138152197 | G | A |
c.2278C>T
|
p.Arg760Trp
|
3.0 |
|
B | ||
| 14283 | chr8 | 138152203 | C | T |
c.2272G>A
|
p.Asp758Asn
|
3.0 |
|
B | ||
| 23868 | chr8 | 138152271 | C | A |
c.2204G>T
|
p.Ser735Ile
|
- | 3.0 |
|
B | |
| 25765 | chr8 | 138152319 | C | T |
c.2156G>A
|
p.Arg719Gln
|
3.0 |
|
B | ||
| 14795 | chr8 | 138152344 | G | A |
c.2131C>T
|
p.Arg711Trp
|
3.0 |
|
B | ||
| 30146 | chr8 | 138152348 | A | C |
c.2127T>G
|
p.Ser709Arg
|
- | 3.0 |
|
B | |
| 35416 | chr8 | 138152389 | C | T |
c.2086G>A
|
p.Ala696Thr
|
3.0 |
|
B | ||
| 32464 | chr8 | 138152451 | A | G |
c.2024T>C
|
p.Val675Ala
|
- | 3.0 |
|
B | |
| 30989 | chr8 | 138152711 | G | T |
c.1764C>A
|
p.Asp588Glu
|
- | 3.0 |
|
B | |
| 32271 | chr8 | 138152718 | C | A |
c.1757G>T
|
p.Gly586Val
|
- | 3.0 |
|
B | |
| 25375 | chr8 | 138152770 | G | T |
c.1705C>A
|
p.Leu569Met
|
- | 3.0 |
|
B | |
| 35216 | chr8 | 138153087 | G | A |
c.1388C>T
|
p.Ser463Phe
|
- | 3.0 |
|
B | |
| 30147 | chr8 | 138153127 | C | T |
c.1348G>A
|
p.Val450Ile
|
3.0 |
|
B |