Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 10907 | chr16 | 9768883 | C | A |
c.2563G>T
|
p.Asp855Tyr
|
- | 3.0 |
|
B | |
| 6731 | chr16 | 9768892 | C | T |
c.2554G>A
|
p.Val852Met
|
2.5 |
|
B | ||
| 27183 | chr16 | 9768897 | G | A |
c.2549C>T
|
p.Thr850Met
|
3.0 |
|
B | ||
| 1907 | chr16 | 9768910 | G | A |
c.2536C>T
|
p.Arg846Cys
|
3.0 |
|
B | ||
| 22777 | chr16 | 9768938 | G | C |
c.2508C>G
|
p.Ile836Met
|
- | 3.0 |
|
B | |
| 23365 | chr16 | 9768954 | C | T |
c.2492G>A
|
p.Ser831Asn
|
- | 3.0 |
|
B | |
| 5664 | chr16 | 9769016 | G | T |
c.2430C>A
|
p.Ser810Arg
|
- | 3.0 |
|
B | |
| 6866 | chr16 | 9769061 | C | T |
c.2385G>A
|
p.Trp795Ter
|
4.5 |
|
B | ||
| 32390 | chr16 | 9769078 | C | T |
c.2368G>A
|
p.Glu790Lys
|
- | 3.0 |
|
B | |
| 18480 | chr16 | 9769088 | A | C |
c.2358T>G
|
p.Gly786=
|
- | 3.0 |
|
B | |
| 15720 | chr16 | 9769092 | G | T |
c.2357-3C>A
|
-
|
- | 3.0 |
|
B | |
| 23526 | chr16 | 9769102 | C | T |
c.2357-13G>A
|
-
|
- | 3.0 |
|
B | |
| 32879 | chr16 | 9822247 | G | A |
c.2168+17C>T
|
-
|
3.0 |
|
B | ||
| 12887 | chr16 | 9822391 | G | A |
c.2041C>T
|
p.Arg681Ter
|
5.0 |
|
B | ||
| 25072 | chr16 | 9829404 | G | A |
c.2007+19C>T
|
-
|
2.5 |
|
B | ||
| 8724 | chr16 | 9829528 | C | A |
c.1902G>T
|
p.Trp634Cys
|
3.0 |
|
B | ||
| 18162 | chr16 | 9829547 | T | C |
c.1883A>G
|
p.Lys628Arg
|
- | 3.0 |
|
B | |
| 5085 | chr16 | 9829575 | C | G |
c.1855G>C
|
p.Val619Leu
|
- | 3.0 |
|
B | |
| 31222 | chr16 | 9829603 | C | T |
c.1827G>A
|
p.Trp609Ter
|
4.0 |
|
B | ||
| 31604 | chr16 | 9840668 | C | T |
c.1630G>A
|
p.Val544Ile
|
- | 3.0 |
|
B |