Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 10018 | chr4 | 105261811 | CAT | C |
c.4011_4012del
|
p.Tyr1337Ter
|
4.0 |
|
B | ||
| 5447 | chr4 | 105269646 | G | T |
c.4081G>T
|
p.Gly1361Cys
|
3.5 |
|
B | ||
| 32533 | chr4 | 105269712 | A | G |
c.4147A>G
|
p.Arg1383Gly
|
- | 3.0 |
|
B | |
| 32012 | chr4 | 105272555 | C | A |
c.4183-9C>A
|
-
|
- | 3.0 |
|
B | |
| 28431 | chr4 | 105275074 | A | AT |
c.4565dup
|
p.Met1522IlefsTer56
|
- | 4.0 |
|
B | |
| 1685 | chr4 | 105275267 | C | A |
c.4757C>A
|
p.Ser1586Ter
|
- | 4.0 |
|
B | |
| 32279 | chr4 | 105275489 | G | A |
c.4979G>A
|
p.Arg1660Lys
|
3.0 |
|
B | ||
| 676 | chr4 | 105275533 | AT | A |
c.5024del
|
p.Ile1675ThrfsTer20
|
- | 4.0 |
|
B | |
| 26330 | chr4 | 105275555 | G | A |
c.5045G>A
|
p.Arg1682Lys
|
3.0 |
|
B | ||
| 29694 | chr4 | 105275882 | C | T |
c.5372C>T
|
p.Ser1791Phe
|
3.0 |
|
B | ||
| 28482 | chr4 | 105275915 | C | A |
c.5405C>A
|
p.Pro1802Gln
|
- | 3.0 |
|
B | |
| 725 | chr4 | 105275991 | G | T |
c.5481G>T
|
p.Lys1827Asn
|
- | 3.0 |
|
B | |
| 35513 | chr4 | 105276095 | T | A |
c.5585T>A
|
p.Val1862Glu
|
- | 3.0 |
|
B | |
| 34098 | chr4 | 105276238 | C | A |
c.5728C>A
|
p.Pro1910Thr
|
- | 3.0 |
|
B | |
| 4658 | chr4 | 106328244 | G | A |
c.391+1G>A
|
p.?
|
3.0 |
|
B | ||
| 28747 | chr4 | 109913447 | AATTC | A |
c.113_116del
|
p.Asn38IlefsTer10
|
- | 3.0 |
|
B | |
| 17365 | chr4 | 109940991 | G | T |
c.173G>T
|
p.Arg58Met
|
- | 3.0 |
|
B | |
| 5167 | chr4 | 109943366 | G | A |
c.440G>A
|
p.Gly147Glu
|
3.0 |
|
B | ||
| 20642 | chr4 | 109945108 | G | A |
c.773G>A
|
p.Arg258His
|
3.0 |
|
B | ||
| 25879 | chr4 | 109945133 | G | A |
c.798G>A
|
p.Met266Ile
|
- | 3.0 |
|
B |