Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 25743 | chr17 | 1354268 | T | C |
c.658A>G
|
p.Ile220Val
|
3.0 |
|
B | ||
| 18414 | chr17 | 1361137 | G | A |
c.533C>T
|
p.Ser178Phe
|
- | 3.0 |
|
B | |
| 22382 | chr17 | 1362007 | A | G |
c.266T>C
|
p.Val89Ala
|
- | 3.0 |
|
B | |
| 19895 | chr17 | 1362010 | TA | T |
c.265-3del
|
-
|
2.0 |
|
B | ||
| 19896 | chr17 | 1362010 | TAA | T |
c.265-4_265-3del
|
-
|
3.0 |
|
B | ||
| 20153 | chr17 | 1362021 | AAAT | A |
c.265-16_265-14del
|
-
|
- | 3.0 |
|
B | |
| 11349 | chr17 | 1362023 | A | T |
c.265-15T>A
|
-
|
2.0 |
|
B | ||
| 16826 | chr17 | 1365067 | G | A |
c.65-9C>T
|
-
|
- | 3.0 |
|
B | |
| 19760 | chr17 | 1400032 | G | GC |
c.64+14dup
|
-
|
3.0 |
|
B | ||
| 30943 | chr17 | 1400040 | A | C |
c.64+7T>G
|
-
|
2.0 |
|
B | ||
| 23882 | chr17 | 1400044 | CA | C |
c.64+2del
|
p.?
|
- | 4.0 |
|
B | |
| 28619 | chr17 | 1650974 | C | G |
c.6854-18G>C
-
|
-
-
|
- | 3.0 |
|
B | |
| 17167 | chr17 | 1651164 | C | T |
c.6797G>A
-
|
p.Arg2266His
-
|
3.0 |
|
B | ||
| 32077 | chr17 | 1651286 | C | T |
c.6675G>A
-
|
p.Leu2225=
-
|
- | 3.0 |
|
B | |
| 29208 | chr17 | 1651543 | G | C |
c.6521C>G
-
|
p.Pro2174Arg
-
|
- | 3.0 |
|
B | |
| 34922 | chr17 | 1651570 | G | C |
c.6511-17C>G
-
|
-
-
|
- | 3.0 |
|
B | |
| 20410 | chr17 | 1651680 | G | A |
c.6478C>T
-
|
p.Pro2160Ser
-
|
- | 3.0 |
|
B | |
| 30294 | chr17 | 1653591 | G | A |
c.6320C>T
-
|
p.Pro2107Leu
-
|
- | 3.0 |
|
B | |
| 13617 | chr17 | 1655543 | C | A |
c.5794G>T
|
p.Ala1932Ser
|
- | 3.0 |
|
B | |
| 2394 | chr17 | 1656677 | T | G |
c.5590A>C
|
p.Thr1864Pro
|
- | 3.0 |
|
B |