Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 3226 | chr14 | 75049517 | T | C |
c.139A>G
-
|
p.Met47Val
-
|
3.0 |
|
B | ||
| 29725 | chr14 | 75049531 | G | C |
c.125C>G
-
|
p.Ala42Gly
-
|
- | 3.0 |
|
B | |
| 5208 | chr14 | 77391125 | G | T |
c.1906G>T
-
|
p.Gly636Trp
-
|
3.0 |
|
B | ||
| 4751 | chr14 | 80895750 | C | T |
c.613G>A
|
p.Glu205Lys
|
3.0 |
|
B | ||
| 14607 | chr14 | 80955720 | G | C |
c.40G>C
|
p.Asp14His
|
3.0 |
|
B | ||
| 23523 | chr14 | 80955734 | C | A |
c.54C>A
|
p.Asp18Glu
|
- | 3.0 |
|
B | |
| 15906 | chr14 | 80955768 | G | A |
c.88G>A
|
p.Glu30Lys
|
- | 3.0 |
|
B | |
| 10383 | chr14 | 80955815 | A | G |
c.135A>G
|
p.Gln45=
|
- | 3.0 |
|
B | |
| 10528 | chr14 | 80955842 | G | A |
c.162G>A
|
p.Thr54=
|
- | 3.0 |
|
B | |
| 14350 | chr14 | 81062136 | T | G |
c.171-12T>G
|
-
|
- | 3.0 |
|
B | |
| 582 | chr14 | 81062217 | AATGTAAGTTTTT | A |
c.241_242+10del
|
p.?
|
- | 3.0 |
|
B | |
| 26145 | chr14 | 81068340 | G | A |
c.317+12G>A
|
-
|
- | 3.0 |
|
B | |
| 3036 | chr14 | 81087947 | T | G |
c.318-7T>G
|
-
|
- | 3.0 |
|
B | |
| 33143 | chr14 | 81088006 | G | A |
c.370G>A
|
p.Glu124Lys
|
- | 3.0 |
|
B | |
| 18267 | chr14 | 81092539 | C | A |
c.476C>A
|
p.Thr159Lys
|
- | 3.0 |
|
B | |
| 2961 | chr14 | 81092584 | G | A |
c.521G>A
|
p.Gly174Glu
|
- | 3.0 |
|
B | |
| 18530 | chr14 | 81108367 | C | T |
c.615-8C>T
|
-
|
- | 3.0 |
|
B | |
| 19687 | chr14 | 81108368 | C | T |
c.615-7C>T
|
-
|
2.0 |
|
B | ||
| 16466 | chr14 | 81108435 | C | A |
c.675C>A
|
p.Tyr225Ter
|
- | 3.0 |
|
B | |
| 12351 | chr14 | 81139668 | C | G |
c.693-11C>G
|
-
|
- | 3.0 |
|
B |