Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 9608 | chr2 | 178724494 | C | A |
c.20881G>T
|
p.Val6961Leu
|
- | 3.0 |
|
B | |
| 13669 | chr2 | 178724550 | C | T |
c.20837-12G>A
|
-
|
2.0 |
|
B | ||
| 11708 | chr2 | 178725391 | T | A |
c.20813A>T
|
p.Asn6938Ile
|
- | 3.0 |
|
B | |
| 23560 | chr2 | 178725410 | C | T |
c.20794G>A
|
p.Asp6932Asn
|
- | 3.0 |
|
B | |
| 23561 | chr2 | 178725411 | A | T |
c.20793T>A
|
p.Asn6931Lys
|
- | 3.0 |
|
B | |
| 14627 | chr2 | 178725548 | G | A |
c.20656C>T
|
p.Gln6886Ter
|
- | 3.0 |
|
B | |
| 14559 | chr2 | 178725592 | G | T |
c.20612C>A
|
p.Ala6871Asp
|
- | 3.0 |
|
B | |
| 22836 | chr2 | 178725666 | G | A |
c.20555-17C>T
|
-
|
3.0 |
|
B | ||
| 33164 | chr2 | 178725810 | C | T |
c.20512G>A
|
p.Glu6838Lys
|
- | 3.0 |
|
B | |
| 14059 | chr2 | 178727126 | C | A |
c.20239G>T
|
p.Gly6747Cys
|
- | 3.0 |
|
B | |
| 34002 | chr2 | 178727165 | C | A |
c.20200G>T
|
p.Asp6734Tyr
|
- | 3.0 |
|
B | |
| 13006 | chr2 | 178727195 | C | T |
c.20170G>A
|
p.Val6724Ile
|
3.0 |
|
B | ||
| 24293 | chr2 | 178727270 | C | T |
c.20095G>A
|
p.Val6699Ile
|
- | 3.0 |
|
B | |
| 27861 | chr2 | 178727288 | C | T |
c.20077G>A
|
p.Gly6693Arg
|
- | 3.0 |
|
B | |
| 24157 | chr2 | 178727352 | C | A |
c.20013G>T
|
p.Lys6671Asn
|
- | 3.0 |
|
B | |
| 25492 | chr2 | 178727602 | G | A |
c.19976C>T
|
p.Thr6659Met
|
1.0 |
|
B | ||
| 35002 | chr2 | 178727731 | G | C |
c.19847C>G
|
p.Ser6616Ter
|
- | 3.0 |
|
B | |
| 30977 | chr2 | 178727818 | G | T |
c.19760C>A
|
p.Pro6587His
|
- | 3.0 |
|
B | |
| 31254 | chr2 | 178728121 | A | T |
c.19703T>A
|
p.Leu6568Ter
|
- | 3.0 |
|
B | |
| 32008 | chr2 | 178728158 | A | T |
c.19666T>A
|
p.Ser6556Thr
|
- | 3.0 |
|
B |