Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 2144 | chr2 | 140485342 | C | A |
c.9425+1G>T
|
p.?
|
- | 4.0 |
|
B | |
| 10190 | chr2 | 140485375 | A | C |
c.9393T>G
|
p.Phe3131Leu
|
- | 3.0 |
|
B | |
| 14617 | chr2 | 140485502 | G | A |
c.9266C>T
|
p.Pro3089Leu
|
- | 3.0 |
|
B | |
| 15292 | chr2 | 140485526 | T | A |
c.9244-2A>T
|
p.?
|
4.0 |
|
B | ||
| 130 | chr2 | 140487616 | C | A |
c.9243+1G>T
|
p.?
|
- | 4.33 |
|
A | |
| 1373 | chr2 | 140487628 | T | G |
c.9232A>C
|
p.Ser3078Arg
|
- | 3.0 |
|
B | |
| 3879 | chr2 | 140487654 | C | A |
c.9206G>T
|
p.Arg3069Leu
|
- | 3.0 |
|
B | |
| 10321 | chr2 | 140487655 | G | A |
c.9205C>T
|
p.Arg3069Cys
|
3.0 |
|
B | ||
| 18380 | chr2 | 140487739 | C | T |
c.9121G>A
|
p.Gly3041Arg
|
- | 3.0 |
|
B | |
| 29603 | chr2 | 140492649 | T | C |
c.9079A>G
|
p.Lys3027Glu
|
3.0 |
|
B | ||
| 33883 | chr2 | 140492655 | T | G |
c.9073A>C
|
p.Ile3025Leu
|
- | 3.0 |
|
B | |
| 13908 | chr2 | 140495573 | G | A |
c.9026C>T
|
p.Ser3009Leu
|
3.0 |
|
B | ||
| 16950 | chr2 | 140495697 | C | A |
c.8902G>T
|
p.Asp2968Tyr
|
- | 3.0 |
|
B | |
| 24497 | chr2 | 140495712 | C | T |
c.8887G>A
|
p.Gly2963Ser
|
3.0 |
|
B | ||
| 1406 | chr2 | 140495736 | G | T |
c.8863C>A
|
p.Pro2955Thr
|
- | 3.0 |
|
B | |
| 8495 | chr2 | 140495752 | G | A |
c.8851-4C>T
|
-
|
- | 3.0 |
|
B | |
| 8496 | chr2 | 140495753 | G | A |
c.8851-5C>T
|
-
|
- | 3.0 |
|
B | |
| 20922 | chr2 | 140501730 | C | A |
c.8807G>T
|
p.Ser2936Ile
|
- | 3.0 |
|
B | |
| 8819 | chr2 | 140501738 | C | G |
c.8799G>C
|
p.Lys2933Asn
|
- | 3.0 |
|
B | |
| 27208 | chr2 | 140501824 | G | A |
c.8713C>T
|
p.Pro2905Ser
|
3.0 |
|
B |