Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 5168 | chr4 | 154489553 | CTCTG | C |
c.1799_1802del
|
p.Ala600GlyfsTer21
|
- | 3.0 |
|
B | |
| 4442 | chr4 | 154612143 | TTGGTTTG | T |
c.175_181del
|
p.Gln59LysfsTer2
|
- | 3.0 |
|
B | |
| 4443 | chr4 | 154612152 | T | TCAAACCA |
c.172_173insTGGTTTG
|
p.Tyr58LeufsTer3
|
- | 3.0 |
|
B | |
| 20307 | chr4 | 157220999 | GA | G |
c.-35del
|
-
|
3.0 |
|
B | ||
| 15139 | chr4 | 159268048 | CT | C |
c.543+24268del
|
-
|
2.0 |
|
B | ||
| 5169 | chr4 | 175640809 | C | T |
c.562G>A
|
p.Glu188Lys
|
- | 3.0 |
|
B | |
| 5868 | chr4 | 176014466 | A | G |
-
|
-
|
- | 3.0 |
|
B | |
| 3366 | chr4 | 182679733 | C | T |
c.1394C>T
|
p.Thr465Met
|
3.0 |
|
B | ||
| 13701 | chr4 | 184390702 | C | T |
c.741+1G>A
|
p.?
|
- | 3.5 |
|
B | |
| 5872 | chr4 | 184418670 | T | C |
c.226A>G
|
p.Thr76Ala
|
3.0 |
|
B | ||
| 30777 | chr4 | 184418719 | A | T |
c.188-11T>A
|
-
|
- | 3.0 |
|
B | |
| 8930 | chr4 | 184419468 | C | A |
c.187+1G>T
|
p.?
|
- | 3.5 |
|
B | |
| 8931 | chr4 | 184419469 | C | A |
c.187G>T
|
p.Gly63Ter
|
- | 3.5 |
|
B | |
| 9275 | chr4 | 184419553 | G | A |
c.103C>T
|
p.Gln35Ter
|
- | 3.5 |
|
B | |
| 16138 | chr4 | 184428979 | T | TTG |
c.84_85dup
|
p.Lys29ThrfsTer42
|
- | 3.5 |
|
B | |
| 5800 | chr4 | 184429046 | G | A |
c.19C>T
|
p.Arg7Cys
|
3.0 |
|
B | ||
| 21053 | chr4 | 184631078 | G | A |
c.563C>T
|
p.Pro188Leu
|
- | 3.0 |
|
B | |
| 28087 | chr4 | 184632274 | G | A |
c.301C>T
|
p.Arg101Cys
|
3.0 |
|
B | ||
| 33792 | chr4 | 186588616 | A | T |
c.13743T>A
|
p.Asp4581Glu
|
- | 3.0 |
|
B | |
| 22513 | chr4 | 186588714 | C | T |
c.13645G>A
|
p.Val4549Met
|
3.0 |
|
B |