Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 18253 | chr5 | 11364716 | C | T |
c.1352G>A
|
p.Gly451Asp
|
- | 3.0 |
|
B | |
| 28458 | chr5 | 11364717 | C | T |
c.1351G>A
|
p.Gly451Ser
|
3.0 |
|
B | ||
| 16249 | chr5 | 11364741 | C | A |
c.1327G>T
|
p.Asp443Tyr
|
- | 3.0 |
|
B | |
| 14740 | chr5 | 11364881 | C | T |
c.1187G>A
|
p.Arg396Gln
|
3.0 |
|
B | ||
| 31486 | chr5 | 11384757 | G | T |
c.1085C>A
|
p.Thr362Asn
|
3.0 |
|
B | ||
| 34199 | chr5 | 11384773 | C | T |
c.1069G>A
|
p.Ala357Thr
|
- | 3.0 |
|
B | |
| 22860 | chr5 | 11384879 | C | T |
c.963G>A
|
p.Val321=
|
3.0 |
|
B | ||
| 23223 | chr5 | 11384996 | G | A |
c.846C>T
|
p.Arg282=
|
3.0 |
|
B | ||
| 2896 | chr5 | 11385162 | CGCG | C |
c.677_679del
|
p.Pro226del
|
2.5 |
|
B | ||
| 23576 | chr5 | 11397035 | C | A |
c.608G>T
|
p.Ser203Ile
|
- | 3.0 |
|
B | |
| 30456 | chr5 | 11397050 | G | A |
c.593C>T
|
p.Thr198Met
|
2.5 |
|
B | ||
| 28692 | chr5 | 11397077 | G | T |
c.566C>A
|
p.Pro189Gln
|
- | 3.0 |
|
B | |
| 35495 | chr5 | 11397090 | G | T |
c.553C>A
|
p.Pro185Thr
|
- | 3.0 |
|
B | |
| 27136 | chr5 | 11397139 | A | T |
c.504T>A
|
p.Tyr168Ter
|
- | 3.0 |
|
B | |
| 29623 | chr5 | 11411554 | C | T |
c.421G>A
|
p.Asp141Asn
|
- | 3.0 |
|
B | |
| 28611 | chr5 | 11411566 | G | C |
c.409C>G
|
p.Leu137Val
|
- | 3.0 |
|
B | |
| 23332 | chr5 | 11411571 | C | T |
c.404G>A
|
p.Gly135Glu
|
- | 3.0 |
|
B | |
| 18569 | chr5 | 11411577 | T | A |
c.398A>T
|
p.Glu133Val
|
- | 3.0 |
|
B | |
| 35009 | chr5 | 11411641 | C | T |
c.334G>A
|
p.Asp112Asn
|
3.0 |
|
B | ||
| 22296 | chr5 | 11412023 | G | A |
c.322+12C>T
|
-
|
- | 3.0 |
|
B |