Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 32093 | chr4 | 152337948 | A | C |
c.727-12T>G
|
-
|
- | 3.0 |
|
B | |
| 11482 | chr4 | 152346986 | G | A |
c.670C>T
|
p.Arg224Ter
|
4.5 |
|
B | ||
| 16462 | chr4 | 152347089 | AG | A |
c.585-19del
|
-
|
3.0 |
|
B | ||
| 28021 | chr4 | 152350009 | G | T |
c.584+33C>A
|
-
|
3.0 |
|
B | ||
| 6511 | chr4 | 152350062 | GCATGGTTTCTTTC | G |
c.551_563del
|
p.Gly184AlafsTer51
|
- | 4.0 |
|
B | |
| 33917 | chr4 | 152350079 | A | C |
c.547T>G
|
p.Leu183Val
|
- | 3.0 |
|
B | |
| 2009 | chr4 | 152350115 | T | A |
c.511A>T
|
p.Lys171Ter
|
- | 4.0 |
|
B | |
| 24297 | chr4 | 152382287 | C | G |
c.501+29016G>C
|
-
|
- | 3.0 |
|
B | |
| 3138 | chr4 | 152411338 | G | A |
c.466C>T
|
p.Gln156Ter
|
- | 4.0 |
|
B | |
| 22645 | chr4 | 152411482 | G | A |
c.322C>T
|
p.Gln108Ter
|
- | 4.5 |
|
B | |
| 25392 | chr4 | 152411503 | CTTCCTCTTGTTCTTCTTGGTTTCCTG | C |
c.275_300del
|
p.Ser92Ter
|
- | 4.0 |
|
B | |
| 25393 | chr4 | 152411530 | AGG | A |
c.272_273del
|
p.Ser91PhefsTer11
|
- | 4.0 |
|
B | |
| 12465 | chr4 | 152411538 | T | C |
c.266A>G
|
p.Glu89Gly
|
- | 3.0 |
|
B | |
| 7163 | chr4 | 152411578 | G | A |
c.226C>T
|
p.Gln76Ter
|
- | 4.0 |
|
B | |
| 1703 | chr4 | 152411599 | G | A |
c.205C>T
|
p.Gln69Ter
|
- | 4.0 |
|
B | |
| 14025 | chr4 | 152411659 | CTTG | C |
c.142_144del
|
p.Gln48del
|
3.0 |
|
B | ||
| 9955 | chr4 | 152411665 | G | T |
c.139C>A
|
p.Gln47Lys
|
- | 3.0 |
|
B | |
| 4190 | chr4 | 152411701 | G | A |
c.103C>T
|
p.Arg35Cys
|
3.0 |
|
B | ||
| 18000 | chr4 | 153632856 | T | G |
c.4328+18T>G
|
-
|
- | 3.0 |
|
B | |
| 2850 | chr4 | 154320466 | C | T |
c.4933G>A
|
p.Asp1645Asn
|
3.5 |
|
B |