Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 20229 | chr7 | 151055383 | A | AC |
-
-
c.484-11dup
|
-
-
-
|
1.5 |
|
B | ||
| 20036 | chr7 | 151055383 | AC | A |
-
-
c.484-11del
|
-
-
-
|
2.0 |
|
B | ||
| 16501 | chr7 | 151055864 | G | A |
-
-
c.313-16C>T
|
-
-
-
|
- | 3.0 |
|
B | |
| 33495 | chr7 | 151056565 | C | A |
-
-
c.312+15G>T
|
-
-
-
|
- | 3.0 |
|
B | |
| 22748 | chr7 | 151056913 | G | A |
-
-
c.189C>T
|
-
-
p.Ile63=
|
3.0 |
|
B | ||
| 33795 | chr7 | 151057110 | C | A |
-
-
c.88G>T
|
-
-
p.Val30Leu
|
- | 3.0 |
|
B | |
| 23919 | chr7 | 151057117 | A | C |
-
-
c.81T>G
|
-
-
p.His27Gln
|
3.0 |
|
B | ||
| 4688 | chr7 | 151198797 | C | T |
c.923+1G>A
|
p.?
|
3.0 |
|
B | ||
| 5955 | chr7 | 151467156 | GC | G |
c.517del
|
p.Ala173GlnfsTer11
|
- | 3.0 |
|
B | |
| 30239 | chr7 | 151467189 | C | T |
c.485G>A
|
p.Arg162Lys
|
- | 3.0 |
|
B | |
| 20575 | chr7 | 151467202 | C | G |
c.472G>C
|
p.Asp158His
|
- | 3.0 |
|
B | |
| 7974 | chr7 | 151470581 | T | G |
c.452A>C
|
p.Lys151Thr
|
- | 3.0 |
|
B | |
| 23159 | chr7 | 151471537 | GGTAC | G |
c.332+8_332+11del
|
-
|
- | 3.0 |
|
B | |
| 23160 | chr7 | 151471554 | T | A |
c.327A>T
|
p.Lys109Asn
|
- | 3.0 |
|
B | |
| 14204 | chr7 | 151477422 | G | A |
c.193-7C>T
|
-
|
- | 3.0 |
|
B | |
| 14408 | chr7 | 151477428 | A | T |
c.193-13T>A
|
-
|
- | 3.0 |
|
B | |
| 28807 | chr7 | 151477432 | T | A |
c.193-17A>T
|
-
|
3.0 |
|
B | ||
| 16365 | chr7 | 151557224 | G | T |
c.1687C>A
|
p.Gln563Lys
|
- | 3.0 |
|
B | |
| 11234 | chr7 | 151564101 | C | T |
c.1561G>A
|
p.Val521Met
|
3.0 |
|
B | ||
| 23761 | chr7 | 151568724 | G | A |
c.1225C>T
|
p.Gln409Ter
|
- | 3.0 |
|
B |