Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 34062 | chr5 | 32126582 | C | T |
c.527G>A
|
p.Arg176Gln
|
3.0 |
|
B | ||
| 20487 | chr5 | 32135570 | A | G |
c.472+2T>C
|
p.?
|
- | 3.0 |
|
B | |
| 18780 | chr5 | 32143885 | T | TA |
c.226-6dup
|
-
|
- | 3.0 |
|
B | |
| 15803 | chr5 | 32173881 | TGTC | T |
c.151_153del
|
p.Asp51del
|
3.0 |
|
B | ||
| 21451 | chr5 | 32601041 | A | AG |
c.343dup
|
p.Glu115GlyfsTer5
|
- | 3.0 |
|
B | |
| 2969 | chr5 | 32786359 | CT | C |
c.*25del
|
-
|
2.5 |
|
B | ||
| 12055 | chr5 | 35708993 | C | T |
c.2711C>T
|
p.Ala904Val
|
1.0 |
|
B | ||
| 4356 | chr5 | 35776254 | T | G |
c.4079-3T>G
|
-
|
- | 3.0 |
|
B | |
| 21305 | chr5 | 35856997 | C | A |
c.20C>A
|
p.Thr7Asn
|
3.0 |
|
B | ||
| 1376 | chr5 | 35857008 | G | T |
c.31G>T
|
p.Val11Phe
|
3.0 |
|
B | ||
| 24908 | chr5 | 35860947 | G | C |
c.178G>C
|
p.Glu60Gln
|
- | 3.0 |
|
B | |
| 10970 | chr5 | 35860966 | T | C |
c.197T>C
|
p.Ile66Thr
|
1.0 |
|
B | ||
| 8585 | chr5 | 35867316 | G | A |
c.232G>A
|
p.Val78Met
|
3.0 |
|
B | ||
| 10722 | chr5 | 35867352 | G | A |
c.268G>A
|
p.Glu90Lys
|
- | 3.0 |
|
B | |
| 26602 | chr5 | 35867398 | G | A |
c.314G>A
|
p.Ser105Asn
|
2.5 |
|
B | ||
| 14453 | chr5 | 35867470 | A | C |
c.379+7A>C
|
-
|
- | 3.0 |
|
B | |
| 27696 | chr5 | 35867492 | G | T |
c.379+29G>T
|
-
|
- | 3.0 |
|
B | |
| 23465 | chr5 | 35867502 | G | T |
c.379+39G>T
|
-
|
- | 3.0 |
|
B | |
| 23671 | chr5 | 35867503 | G | A |
c.379+40G>A
|
-
|
3.0 |
|
B | ||
| 5805 | chr5 | 35871085 | G | A |
c.409G>A
|
p.Val137Ile
|
- | 3.0 |
|
B |