Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 7489 | chr15 | 44711582 | ACTCT | A |
-
c.41_44del
|
-
p.Ser14PhefsTer29
|
- | 4.0 |
|
B | |
| 16190 | chr15 | 44711587 | CTCTT | C |
-
c.45_48del
|
-
p.Ser16AlafsTer27
|
- | 4.0 |
|
B | |
| 5414 | chr15 | 44711610 | C | T |
-
c.64C>T
|
-
p.Gln22Ter
|
- | 4.0 |
|
B | |
| 25325 | chr15 | 44711615 | T | C |
-
c.67+2T>C
|
-
p.?
|
- | 4.0 |
|
B | |
| 7606 | chr15 | 44711618 | G | C |
-
c.67+5G>C
|
-
-
|
- | 3.5 |
|
B | |
| 16089 | chr15 | 44715416 | TCCTCAGGTACTC | T |
-
c.68-5_74del
|
-
p.?
|
- | 4.0 |
|
B | |
| 1439 | chr15 | 44715421 | A | C |
-
c.68-2A>C
|
-
p.?
|
- | 4.5 |
|
B | |
| 32969 | chr15 | 44715494 | G | GTGTC |
-
c.142_145dup
|
-
p.Gly49ValfsTer9
|
- | 4.0 |
|
B | |
| 1913 | chr15 | 44715514 | C | T |
-
c.159C>T
|
-
p.Ser53=
|
2.5 |
|
B | ||
| 30497 | chr15 | 44715590 | GACTGGTCTTTCTATCTCTTGTACTAC | G |
-
c.240_265del
|
-
p.Trp80Ter
|
- | 4.0 |
|
B | |
| 30498 | chr15 | 44715595 | GTCTT | G |
-
c.244_247del
|
-
p.Phe82IlefsTer20
|
- | 4.0 |
|
B | |
| 20249 | chr15 | 44715613 | CTACACTGAATTCACCCCCACTGAAAAAGATGAGTATGCCTGCCGTGTGAACCATGTGACTTTGTCACAGCCCAAGATAGTTAAGTGGGG | C |
-
c.261_346+3del
|
-
p.?
|
- | 4.0 |
|
B | |
| 6130 | chr15 | 44715626 | A | AC |
-
c.276dup
|
-
p.Thr93HisfsTer2
|
- | 4.0 |
|
B | |
| 32047 | chr15 | 44715642 | ATGAGTATGCC | A |
-
c.290_299del
|
-
p.Glu97AlafsTer3
|
- | 4.0 |
|
B | |
| 24141 | chr15 | 44715651 | CCTGCCGTGTGAACCATGTGACTTTGTCACAGCCCAAGATAGTT | C |
-
c.297_339del
|
-
p.Cys100SerfsTer31
|
- | 4.0 |
|
B | |
| 28918 | chr15 | 44715656 | C | T |
-
c.301C>T
|
-
p.Arg101Cys
|
3.0 |
|
B | ||
| 6233 | chr15 | 44716328 | G | C |
c.347-1G>C
|
p.?
|
- | 4.0 |
|
B | |
| 31823 | chr15 | 48411208 | C | A |
c.8398G>T
|
p.Glu2800Ter
|
- | 3.0 |
|
B | |
| 29988 | chr15 | 48411243 | G | A |
c.8363C>T
|
p.Thr2788Met
|
2.0 |
|
B | ||
| 13063 | chr15 | 48421561 | C | T |
c.7696G>A
|
p.Glu2566Lys
|
- | 3.0 |
|
B |