Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1022 | chr5 | 68297574 | C | A |
c.2148C>A
|
p.Tyr716Ter
|
- | 3.5 |
|
B | |
| 29072 | chr5 | 72875597 | T | A |
c.679-18T>A
|
-
|
3.0 |
|
B | ||
| 6653 | chr5 | 72875706 | G | A |
c.770G>A
|
p.Arg257His
|
- | 3.0 |
|
B | |
| 5406 | chr5 | 72877348 | TA | T |
c.920+4del
|
-
|
- | 3.0 |
|
B | |
| 4569 | chr5 | 72883058 | C | A |
c.982-6C>A
|
-
|
- | 3.0 |
|
B | |
| 2648 | chr5 | 72883185 | A | T |
c.1103A>T
|
p.Asp368Val
|
- | 3.0 |
|
B | |
| 26566 | chr5 | 72887064 | C | T |
c.1151-6C>T
|
-
|
- | 3.0 |
|
B | |
| 19997 | chr5 | 72887201 | G | A |
c.1282G>A
|
p.Val428Ile
|
- | 3.0 |
|
B | |
| 12393 | chr5 | 72888209 | A | T |
c.1435A>T
|
p.Ser479Cys
|
- | 3.0 |
|
B | |
| 20312 | chr5 | 72889777 | TTTA | T |
c.1530-8_1530-6del
|
-
|
- | 3.0 |
|
B | |
| 30601 | chr5 | 72889880 | C | T |
c.1624C>T
|
p.Gln542Ter
|
- | 3.0 |
|
B | |
| 24160 | chr5 | 72893431 | G | A |
c.1951G>A
|
p.Val651Met
|
- | 3.0 |
|
B | |
| 34464 | chr5 | 72893616 | G | A |
c.2056G>A
|
p.Asp686Asn
|
- | 3.0 |
|
B | |
| 19452 | chr5 | 72896445 | AT | A |
c.2144-5del
|
-
|
- | 3.0 |
|
B | |
| 3530 | chr5 | 72990570 | T | C |
c.293T>C
|
p.Ile98Thr
|
- | 3.0 |
|
B | |
| 4662 | chr5 | 73087754 | G | A |
c.2410+1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 3633 | chr5 | 73909826 | A | G |
c.4576A>G
|
p.Ser1526Gly
|
- | 3.0 |
|
B | |
| 3634 | chr5 | 73909827 | G | C |
c.4577G>C
|
p.Ser1526Thr
|
- | 3.0 |
|
B | |
| 4827 | chr5 | 76403572 | G | A |
c.27G>A
|
p.Leu9=
|
- | 3.0 |
|
B | |
| 26207 | chr5 | 79069817 | T | G |
-
c.33+2T>G
|
-
p.?
|
- | 3.5 |
|
B |