Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 24292 | chr2 | 140334556 | C | G |
c.12120G>C
|
p.Met4040Ile
|
- | 3.0 |
|
B | |
| 33766 | chr2 | 140334569 | G | T |
c.12117-10C>A
|
-
|
- | 3.0 |
|
B | |
| 3878 | chr2 | 140335642 | T | C |
c.12089A>G
|
p.Tyr4030Cys
|
- | 3.0 |
|
B | |
| 31882 | chr2 | 140335684 | G | T |
c.12047C>A
|
p.Pro4016His
|
3.0 |
|
B | ||
| 24036 | chr2 | 140335765 | G | A |
c.11966C>T
|
p.Ser3989Phe
|
3.0 |
|
B | ||
| 20797 | chr2 | 140350943 | G | A |
c.11746C>T
|
p.His3916Tyr
|
3.0 |
|
B | ||
| 16697 | chr2 | 140351038 | C | T |
c.11651G>A
|
p.Gly3884Asp
|
- | 3.0 |
|
B | |
| 11407 | chr2 | 140352937 | G | C |
c.11650+16C>G
|
-
|
- | 3.0 |
|
B | |
| 30813 | chr2 | 140352948 | C | T |
c.11650+5G>A
|
-
|
- | 3.0 |
|
B | |
| 34984 | chr2 | 140353056 | C | A |
c.11547G>T
|
p.Leu3849Phe
|
- | 3.0 |
|
B | |
| 27375 | chr2 | 140353060 | C | T |
c.11543G>A
|
p.Cys3848Tyr
|
- | 3.0 |
|
B | |
| 17212 | chr2 | 140353064 | C | T |
c.11539G>A
|
p.Glu3847Lys
|
- | 3.0 |
|
B | |
| 26764 | chr2 | 140353082 | A | T |
c.11531-10T>A
|
-
|
- | 3.0 |
|
B | |
| 11428 | chr2 | 140353086 | G | C |
c.11531-14C>G
|
-
|
- | 3.0 |
|
B | |
| 33999 | chr2 | 140356365 | T | A |
c.11507A>T
|
p.Asn3836Ile
|
- | 3.0 |
|
B | |
| 4944 | chr2 | 140356372 | G | A |
c.11500C>T
|
p.Gln3834Ter
|
- | 4.0 |
|
B | |
| 33006 | chr2 | 140356405 | T | A |
c.11467A>T
|
p.Thr3823Ser
|
- | 3.0 |
|
B | |
| 17663 | chr2 | 140356447 | C | A |
c.11425G>T
|
p.Val3809Leu
|
- | 3.0 |
|
B | |
| 32144 | chr2 | 140356458 | C | A |
c.11414G>T
|
p.Cys3805Phe
|
- | 3.0 |
|
B | |
| 33638 | chr2 | 140356477 | C | T |
c.11396-1G>A
|
p.?
|
- | 4.0 |
|
B |