Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 19742 | chr14 | 75030725 | TA | T |
c.3828-24del
|
-
|
2.0 |
|
B | ||
| 19686 | chr14 | 75030725 | TAA | T |
c.3828-25_3828-24del
|
-
|
3.0 |
|
B | ||
| 32444 | chr14 | 75033410 | G | A |
c.3715+9C>T
|
-
|
- | 3.0 |
|
B | |
| 2275 | chr14 | 75041711 | A | T |
c.3380-11T>A
|
-
|
- | 3.0 |
|
B | |
| 20012 | chr14 | 75042460 | G | A |
c.3298C>T
|
p.Gln1100Ter
|
- | 3.5 |
|
B | |
| 21974 | chr14 | 75046637 | TCATTAA | T |
c.3013_3018del
|
p.Leu1005_Met1006del
|
- | 3.0 |
|
B | |
| 13952 | chr14 | 75046674 | C | G |
c.2982G>C
|
p.Gln994His
|
- | 3.0 |
|
B | |
| 6715 | chr14 | 75046881 | G | C |
c.2775C>G
|
p.Asn925Lys
|
- | 3.0 |
|
B | |
| 4179 | chr14 | 75047093 | C | A |
c.2563G>T
|
p.Glu855Ter
|
- | 4.0 |
|
B | |
| 10999 | chr14 | 75047125 | G | A |
c.2531C>T
|
p.Pro844Leu
|
1.0 |
|
B | ||
| 31447 | chr14 | 75047371 | C | T |
c.2285G>A
|
p.Gly762Glu
|
- | 3.0 |
|
B | |
| 33875 | chr14 | 75047632 | CA | C |
c.2023del
|
p.Cys675AlafsTer5
|
- | 4.0 |
|
B | |
| 1554 | chr14 | 75047914 | TTCTC | T |
c.1738_1741del
|
p.Glu580LysfsTer29
|
- | 4.0 |
|
B | |
| 18885 | chr14 | 75048418 | C | A |
c.1238G>T
-
|
p.Arg413Ile
-
|
- | 3.0 |
|
B | |
| 5413 | chr14 | 75048618 | C | G |
c.1038G>C
-
|
p.Met346Ile
-
|
- | 3.0 |
|
B | |
| 27883 | chr14 | 75049027 | C | T |
c.629G>A
-
|
p.Arg210Gln
-
|
3.0 |
|
B | ||
| 6437 | chr14 | 75049073 | C | A |
c.583G>T
-
|
p.Gly195Cys
-
|
- | 3.0 |
|
B | |
| 23989 | chr14 | 75049202 | ATAGGT | A |
c.449_453del
-
|
p.Asn150IlefsTer14
-
|
- | 4.0 |
|
B | |
| 5882 | chr14 | 75049325 | A | T |
c.331T>A
-
|
p.Ser111Thr
-
|
- | 3.0 |
|
B | |
| 28765 | chr14 | 75049396 | G | A |
c.260C>T
-
|
p.Pro87Leu
-
|
3.0 |
|
B |