Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 24701 | chr14 | 23308984 | G | T |
c.*19G>T
|
-
|
- | 3.0 |
|
B | |
| 34364 | chr14 | 23413761 | T | A |
c.5788A>T
|
p.Lys1930Ter
|
- | 3.0 |
|
B | |
| 20395 | chr14 | 23413763 | G | A |
c.5786C>T
|
p.Thr1929Met
|
3.0 |
|
B | ||
| 20396 | chr14 | 23413823 | C | T |
c.5726G>A
|
p.Arg1909Gln
|
3.0 |
|
B | ||
| 27359 | chr14 | 23414101 | G | A |
c.5561C>T
|
p.Thr1854Met
|
3.0 |
|
B | ||
| 26891 | chr14 | 23415075 | C | A |
c.5479G>T
|
p.Glu1827Ter
|
- | 3.0 |
|
B | |
| 17589 | chr14 | 23415488 | G | A |
c.5176C>T
|
p.Gln1726Ter
|
- | 3.0 |
|
B | |
| 32871 | chr14 | 23415518 | G | A |
c.5158-12C>T
|
-
|
2.0 |
|
B | ||
| 17012 | chr14 | 23415834 | T | C |
c.4954-2A>G
|
p.?
|
- | 3.0 |
|
B | |
| 22539 | chr14 | 23416141 | G | A |
c.4816C>T
|
p.Arg1606Cys
|
3.0 |
|
B | ||
| 15634 | chr14 | 23419158 | GC | G |
c.3972+18del
|
-
|
- | 3.0 |
|
B | |
| 26123 | chr14 | 23419166 | C | G |
c.3972+11G>C
|
-
|
2.5 |
|
B | ||
| 16610 | chr14 | 23419307 | C | T |
c.3854-12G>A
|
-
|
- | 2.5 |
|
B | |
| 16432 | chr14 | 23419489 | C | T |
c.3847G>A
|
p.Glu1283Lys
|
3.0 |
|
B | ||
| 12199 | chr14 | 23419584 | G | A |
c.3752C>T
|
p.Thr1251Ile
|
3.0 |
|
B | ||
| 11160 | chr14 | 23420150 | G | A |
c.3421C>T
|
p.Arg1141Trp
|
3.0 |
|
B | ||
| 12677 | chr14 | 23420200 | G | A |
c.3371C>T
|
p.Ala1124Val
|
- | 3.0 |
|
B | |
| 18960 | chr14 | 23420974 | T | G |
c.3320A>C
|
p.Lys1107Thr
|
3.0 |
|
B | ||
| 34384 | chr14 | 23421044 | C | G |
c.3250G>C
|
p.Asp1084His
|
- | 3.0 |
|
B | |
| 30649 | chr14 | 23421055 | G | A |
c.3246-7C>T
|
-
|
3.0 |
|
B |