Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 14420 | chr15 | 48513642 | A | T |
c.1495T>A
|
p.Cys499Ser
|
3.0 |
|
B | ||
| 13381 | chr15 | 48515538 | A | T |
c.1328-11T>A
|
-
|
- | 3.0 |
|
B | |
| 25740 | chr15 | 48520648 | A | T |
c.1147+11T>A
|
-
|
- | 3.0 |
|
B | |
| 14385 | chr15 | 48520837 | T | C |
c.989-20A>G
|
-
|
2.5 |
|
B | ||
| 27951 | chr15 | 48526120 | T | C |
c.988+10A>G
|
-
|
- | 3.0 |
|
B | |
| 21678 | chr15 | 48534179 | C | A |
c.763G>T
|
p.Gly255Trp
|
3.0 |
|
B | ||
| 27230 | chr15 | 48534203 | C | A |
c.739G>T
|
p.Val247Leu
|
- | 3.0 |
|
B | |
| 30249 | chr15 | 48537625 | G | T |
c.722C>A
|
p.Thr241Lys
|
3.0 |
|
B | ||
| 20131 | chr15 | 48600238 | G | GA |
c.347-5dup
|
-
|
2.5 |
|
B | ||
| 4119 | chr15 | 48600238 | GA | G |
c.347-5del
|
-
|
2.0 |
|
B | ||
| 28504 | chr15 | 48613093 | C | A |
c.165-1G>T
|
p.?
|
- | 3.0 |
|
B | |
| 26217 | chr15 | 48644593 | C | A |
c.164+13G>T
|
-
|
2.0 |
|
B | ||
| 26825 | chr15 | 49424309 | G | A |
c.1013-52910C>T
c.12G>A
|
-
p.Trp4Ter
|
- | 3.0 |
|
B | |
| 26826 | chr15 | 49424574 | A | T |
c.1013-53175T>A
c.277A>T
|
-
p.Asn93Tyr
|
- | 3.0 |
|
B | |
| 26631 | chr15 | 49483198 | G | C |
c.1012+25013C>G
c.334G>C
|
-
p.Gly112Arg
|
- | 3.0 |
|
B | |
| 20618 | chr15 | 49484368 | C | G |
c.1012+23843G>C
c.449C>G
|
-
p.Thr150Arg
|
- | 3.0 |
|
B | |
| 16405 | chr15 | 49484430 | G | C |
c.1012+23781C>G
c.511G>C
|
-
p.Gly171Arg
|
- | 3.0 |
|
B | |
| 5744 | chr15 | 50229046 | T | G |
c.1555+4T>G
|
-
|
3.0 |
|
B | ||
| 34516 | chr15 | 50492753 | C | T |
c.2287C>T
|
p.Arg763Trp
|
2.5 |
|
B | ||
| 4758 | chr15 | 50543597 | C | T |
c.444+1G>A
|
p.?
|
3.0 |
|
B |