Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 13180 | chr2 | 141229326 | T | G |
c.707A>C
|
p.His236Pro
|
- | 3.0 |
|
B | |
| 27210 | chr2 | 141229333 | C | T |
c.700G>A
|
p.Glu234Lys
|
3.0 |
|
B | ||
| 7052 | chr2 | 141229334 | A | T |
c.699T>A
|
p.Asn233Lys
|
- | 3.0 |
|
B | |
| 7348 | chr2 | 141229367 | AC | A |
c.665del
|
p.Ser222IlefsTer6
|
- | 4.0 |
|
B | |
| 2644 | chr2 | 141229378 | G | T |
c.655C>A
|
p.Leu219Ile
|
- | 3.0 |
|
B | |
| 22613 | chr2 | 141247221 | C | T |
c.592+5G>A
|
-
|
- | 3.0 |
|
B | |
| 11765 | chr2 | 141247256 | G | T |
c.562C>A
|
p.Pro188Thr
|
- | 3.0 |
|
B | |
| 5652 | chr2 | 141247289 | T | A |
c.529A>T
|
p.Thr177Ser
|
- | 3.0 |
|
B | |
| 34220 | chr2 | 141247323 | G | T |
c.495C>A
|
p.Cys165Ter
|
- | 4.0 |
|
B | |
| 4217 | chr2 | 141247362 | G | A |
c.464-8C>T
|
-
|
- | 3.0 |
|
B | |
| 30816 | chr2 | 141247363 | G | A |
c.464-9C>T
|
-
|
- | 3.0 |
|
B | |
| 5816 | chr2 | 141254558 | C | T |
c.427G>A
|
p.Gly143Arg
|
- | 3.0 |
|
B | |
| 34391 | chr2 | 141254587 | C | G |
c.398G>C
|
p.Arg133Thr
|
3.0 |
|
B | ||
| 10354 | chr2 | 141480389 | G | A |
c.343+7C>T
|
-
|
- | 3.0 |
|
B | |
| 14270 | chr2 | 141480394 | A | T |
c.343+2T>A
|
p.?
|
- | 4.0 |
|
B | |
| 16924 | chr2 | 141480410 | C | T |
c.329G>A
|
p.Gly110Glu
|
3.0 |
|
B | ||
| 5014 | chr2 | 141480447 | T | G |
c.292A>C
|
p.Asn98His
|
- | 3.0 |
|
B | |
| 9431 | chr2 | 141480476 | T | G |
c.263A>C
|
p.Asn88Thr
|
- | 3.0 |
|
B | |
| 26219 | chr2 | 141810274 | C | T |
c.205+5G>A
|
-
|
3.5 |
|
B | ||
| 6107 | chr2 | 141810302 | T | A |
c.182A>T
|
p.Asp61Val
|
3.0 |
|
B |