Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 32503 | chr14 | 23430571 | T | G |
c.988A>C
|
p.Met330Leu
|
- | 3.0 |
|
B | |
| 21729 | chr14 | 23430583 | C | T |
c.976G>A
|
p.Ala326Thr
|
3.0 |
|
B | ||
| 35541 | chr14 | 23430639 | G | A |
c.920C>T
|
p.Pro307Leu
|
3.0 |
|
B | ||
| 15205 | chr14 | 23431000 | C | A |
c.797-1G>T
|
p.?
|
3.0 |
|
B | ||
| 12836 | chr14 | 23431402 | G | A |
c.796+16C>T
|
-
|
- | 3.0 |
|
B | |
| 22372 | chr14 | 23431451 | T | A |
c.763A>T
|
p.Thr255Ser
|
- | 3.0 |
|
B | |
| 34347 | chr14 | 23431867 | C | T |
c.533G>A
|
p.Gly178Glu
|
- | 3.0 |
|
B | |
| 15206 | chr14 | 23432466 | C | T |
c.530+13G>A
|
-
|
2.5 |
|
B | ||
| 23750 | chr14 | 23432513 | G | A |
c.503-7C>T
|
-
|
- | 3.0 |
|
B | |
| 34627 | chr14 | 23432517 | AGGGTG | A |
c.503-16_503-12del
|
-
|
- | 3.0 |
|
B | |
| 25640 | chr14 | 23432673 | G | A |
c.468C>T
|
p.Ser156=
|
- | 3.0 |
|
B | |
| 31589 | chr14 | 23432783 | G | A |
c.358C>T
|
p.Leu120Phe
|
- | 3.0 |
|
B | |
| 24153 | chr14 | 23433070 | G | A |
c.345+14C>T
|
-
|
- | 3.0 |
|
B | |
| 23726 | chr14 | 23433090 | C | T |
c.339G>A
|
p.Met113Ile
|
3.0 |
|
B | ||
| 27075 | chr14 | 23433105 | G | C |
c.324C>G
|
p.Arg108=
|
- | 3.0 |
|
B | |
| 29952 | chr14 | 23433517 | C | T |
c.201+15G>A
|
-
|
- | 3.0 |
|
B | |
| 33066 | chr14 | 23433748 | G | T |
c.-8-8C>A
|
-
|
- | 3.0 |
|
B | |
| 19682 | chr14 | 23571226 | GC | G |
-
c.1504del
|
-
p.Ala502GlnfsTer8
|
3.0 |
|
B | ||
| 3582 | chr14 | 24120968 | G | C |
c.1223G>C
|
p.Arg408Pro
|
- | 3.0 |
|
B | |
| 7526 | chr14 | 24141292 | C | A |
-
-
c.13G>T
|
-
-
p.Glu5Ter
|
3.0 |
|
B |