Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 19772 | chr17 | 50188799 | CAG | C |
c.3046-6_3046-5del
|
-
|
2.0 |
|
B | ||
| 18812 | chr17 | 50188884 | G | A |
c.3045+19C>T
|
-
|
- | 3.0 |
|
B | |
| 8437 | chr17 | 50188908 | G | A |
c.3040C>T
|
p.Arg1014Cys
|
3.5 |
|
B | ||
| 9652 | chr17 | 50188929 | C | T |
c.3019G>A
|
p.Gly1007Arg
|
- | 3.0 |
|
B | |
| 22944 | chr17 | 50188941 | G | A |
c.3007C>T
|
p.Pro1003Ser
|
3.0 |
|
B | ||
| 23722 | chr17 | 50189537 | C | T |
c.2669G>A
|
p.Gly890Glu
|
- | 3.0 |
|
B | |
| 18335 | chr17 | 50189551 | A | G |
c.2668-13T>C
|
-
|
- | 3.0 |
|
B | |
| 1585 | chr17 | 50189690 | G | A |
c.2656C>T
|
p.Pro886Ser
|
- | 3.0 |
|
B | |
| 32668 | chr17 | 50189858 | C | A |
c.2613+1G>T
|
p.?
|
- | 3.0 |
|
B | |
| 29029 | chr17 | 50189870 | C | T |
c.2602G>A
|
p.Ala868Thr
|
2.5 |
|
B | ||
| 32848 | chr17 | 50190048 | C | A |
c.2512G>T
|
p.Ala838Ser
|
3.0 |
|
B | ||
| 10687 | chr17 | 50190380 | C | T |
c.2398G>A
|
p.Gly800Arg
|
- | 3.0 |
|
B | |
| 10645 | chr17 | 50190799 | G | A |
c.2343+18C>T
|
-
|
2.0 |
|
B | ||
| 12097 | chr17 | 50190861 | C | T |
c.2299G>A
|
p.Gly767Ser
|
3.5 |
|
B | ||
| 10530 | chr17 | 50190876 | C | T |
c.2284G>A
|
p.Val762Ile
|
2.5 |
|
B | ||
| 5506 | chr17 | 50190903 | C | G |
c.2257G>C
|
p.Ala753Pro
|
- | 3.0 |
|
B | |
| 28668 | chr17 | 50191400 | C | G |
c.2218G>C
|
p.Gly740Arg
|
- | 3.0 |
|
B | |
| 27302 | chr17 | 50191412 | CT | C |
c.2205del
|
p.Ala736LeufsTer30
|
- | 3.0 |
|
B | |
| 705 | chr17 | 50191785 | C | T |
c.2127+3G>A
|
-
|
3.0 |
|
B | ||
| 30880 | chr17 | 50192037 | G | A |
c.1984-13C>T
|
-
|
- | 3.0 |
|
B |