Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 23871 | chr9 | 35679183 | A | T |
c.908-2A>T
-
|
p.?
-
|
- | 3.0 |
|
B | |
| 28757 | chr9 | 35679926 | C | T |
c.1138C>T
-
|
p.Pro380Ser
-
|
3.0 |
|
B | ||
| 5126 | chr9 | 35680748 | C | T |
c.1238-5C>T
-
|
-
-
|
3.0 |
|
B | ||
| 23992 | chr9 | 35680833 | AGGT | A |
c.1319_1319+2del
-
|
p.?
-
|
- | 3.0 |
|
B | |
| 5451 | chr9 | 35680974 | C | T |
c.1329C>T
-
|
p.Thr443=
-
|
- | 3.0 |
|
B | |
| 23287 | chr9 | 36840610 | C | T |
c.1126G>A
|
p.Ala376Thr
|
3.0 |
|
B | ||
| 29849 | chr9 | 36840648 | G | A |
c.1100-12C>T
|
-
|
2.0 |
|
B | ||
| 21521 | chr9 | 36846871 | G | T |
c.1071C>A
|
p.Ser357=
|
- | 3.0 |
|
B | |
| 20492 | chr9 | 36881988 | G | A |
c.1012+16C>T
|
-
|
3.0 |
|
B | ||
| 19917 | chr9 | 36882052 | C | CG |
c.963dup
|
p.Ala322ArgfsTer19
|
4.5 |
|
B | ||
| 17581 | chr9 | 36882060 | A | C |
c.956T>G
|
p.Val319Gly
|
- | 3.0 |
|
B | |
| 4903 | chr9 | 36923354 | C | T |
c.910+1G>A
|
p.?
|
- | 3.5 |
|
B | |
| 29641 | chr9 | 36923396 | C | T |
c.869G>A
|
p.Gly290Glu
|
- | 3.0 |
|
B | |
| 31915 | chr9 | 37002637 | G | T |
c.604+11C>A
|
-
|
3.0 |
|
B | ||
| 21001 | chr9 | 37002683 | G | A |
c.569C>T
|
p.Pro190Leu
|
- | 3.0 |
|
B | |
| 11391 | chr9 | 37002784 | G | A |
-
|
-
|
-
|
3.0 |
|
B | |
| 14937 | chr9 | 37002796 | C | T |
c.476-20G>A
|
-
|
- | 3.0 |
|
B | |
| 24250 | chr9 | 37002913 | G | A |
c.476-137C>T
|
-
|
- | 3.0 |
|
B | |
| 34604 | chr9 | 37006507 | G | GA |
c.440_441insT
|
p.Asn148GlnfsTer95
|
- | 4.0 |
|
B | |
| 32034 | chr9 | 37015064 | TGATCTCCCAGGCAAACATGGTGG | T |
c.320_342del
|
p.Pro107GlnfsTer11
|
- | 4.0 |
|
B |