Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 20002 | chr5 | 14485052 | GTTTT | G |
c.6658-7_6658-4del
|
-
|
- | 3.0 |
|
B | |
| 18391 | chr5 | 14485261 | G | C |
c.6835+15G>C
|
-
|
3.0 |
|
B | ||
| 22297 | chr5 | 14487444 | C | T |
c.6836-20C>T
|
-
|
3.0 |
|
B | ||
| 20309 | chr5 | 14487671 | AC | A |
c.7050del
|
p.Val2351CysfsTer62
|
3.0 |
|
B | ||
| 5066 | chr5 | 14487679 | G | T |
c.7051G>T
|
p.Val2351Leu
|
3.0 |
|
B | ||
| 10250 | chr5 | 14487761 | C | T |
c.7133C>T
|
p.Pro2378Leu
|
3.0 |
|
B | ||
| 33528 | chr5 | 14487851 | C | T |
c.7223C>T
|
p.Pro2408Leu
|
3.0 |
|
B | ||
| 34989 | chr5 | 14488033 | G | A |
c.7405G>A
|
p.Gly2469Ser
|
2.0 |
|
B | ||
| 31492 | chr5 | 14488124 | C | T |
c.7496C>T
|
p.Ser2499Phe
|
3.0 |
|
B | ||
| 16926 | chr5 | 14488171 | C | T |
c.7543C>T
|
p.Arg2515Cys
|
3.0 |
|
B | ||
| 2040 | chr5 | 14492550 | C | T |
c.7633-17C>T
|
-
|
- | 3.0 |
|
B | |
| 16907 | chr5 | 14492717 | G | A |
c.7783G>A
|
p.Ala2595Thr
|
3.0 |
|
B | ||
| 31762 | chr5 | 14497839 | C | T |
c.8020-8C>T
|
-
|
- | 3.0 |
|
B | |
| 837 | chr5 | 14498085 | G | A |
c.8048-4G>A
|
-
|
- | 3.0 |
|
B | |
| 18295 | chr5 | 14498091 | C | T |
c.8050C>T
|
p.Pro2684Ser
|
3.0 |
|
B | ||
| 10251 | chr5 | 14498160 | C | T |
c.8119C>T
|
p.Arg2707Ter
|
3.0 |
|
B | ||
| 14242 | chr5 | 14498254 | G | A |
c.8210+3G>A
|
-
|
- | 3.0 |
|
B | |
| 33393 | chr5 | 14498565 | G | A |
c.8257G>A
|
p.Asp2753Asn
|
- | 3.0 |
|
B | |
| 31578 | chr5 | 14498650 | G | A |
c.8332+10G>A
|
-
|
3.0 |
|
B | ||
| 21219 | chr5 | 14504373 | C | T |
c.8412-20C>T
|
-
|
3.0 |
|
B |