Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 4434 | chr2 | 39337584 | G | T |
c.311-3C>A
|
-
|
- | 3.0 |
|
B | |
| 27070 | chr2 | 39343427 | C | A |
c.271G>T
|
p.Glu91Ter
|
- | 3.0 |
|
B | |
| 24860 | chr2 | 39356327 | G | A |
c.167C>T
|
p.Ala56Val
|
- | 3.0 |
|
B | |
| 11267 | chr2 | 39378065 | C | T |
c.154+1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 2685 | chr2 | 39379827 | T | G |
c.97-1704A>C
|
-
|
- | 3.0 |
|
B | |
| 21169 | chr2 | 39436985 | C | T |
c.3G>A
|
p.Met1?
|
- | 3.0 |
|
B | |
| 8375 | chr2 | 42169599 | C | T |
c.-13C>T
|
-
|
3.0 |
|
B | ||
| 13501 | chr2 | 42245517 | C | T |
c.38C>T
|
p.Ser13Phe
|
- | 3.0 |
|
B | |
| 1091 | chr2 | 42256617 | T | C |
c.325T>C
|
p.Ser109Pro
|
- | 3.0 |
|
B | |
| 1747 | chr2 | 42261128 | G | GA |
c.353dup
|
p.Lys119GlufsTer17
|
3.0 |
|
B | ||
| 19957 | chr2 | 42261161 | GA | G |
c.387del
|
p.Glu130ArgfsTer43
|
3.0 |
|
B | ||
| 35638 | chr2 | 42263216 | C | T |
c.551C>T
|
p.Ser184Phe
|
- | 3.0 |
|
B | |
| 16689 | chr2 | 42263269 | C | T |
c.604C>T
|
p.Pro202Ser
|
- | 3.0 |
|
B | |
| 25091 | chr2 | 42284702 | G | A |
c.1010G>A
|
p.Arg337Lys
|
- | 3.0 |
|
B | |
| 30571 | chr2 | 42288239 | C | T |
c.1135C>T
|
p.His379Tyr
|
- | 3.0 |
|
B | |
| 32105 | chr2 | 42288254 | G | A |
c.1150G>A
|
p.Asp384Asn
|
- | 3.0 |
|
B | |
| 11065 | chr2 | 42288264 | A | G |
c.1160A>G
|
p.Asn387Ser
|
3.0 |
|
B | ||
| 32106 | chr2 | 42288287 | G | A |
c.1183G>A
|
p.Asp395Asn
|
- | 3.0 |
|
B | |
| 18488 | chr2 | 42288341 | G | A |
c.1218+19G>A
|
-
|
3.0 |
|
B | ||
| 30448 | chr2 | 42295140 | G | A |
c.1234G>A
|
p.Val412Ile
|
3.0 |
|
B |