Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 28784 | chr2 | 58194279 | C | G |
c.540+4315G>C
|
-
|
- | 3.0 |
|
B | |
| 18221 | chr2 | 58198581 | G | A |
c.540+13C>T
|
-
|
2.5 |
|
B | ||
| 21840 | chr2 | 58204130 | C | A |
c.471G>T
|
p.Lys157Asn
|
- | 3.0 |
|
B | |
| 4410 | chr2 | 58221955 | G | A |
c.361C>T
|
p.Leu121Phe
|
3.0 |
|
B | ||
| 5847 | chr2 | 58221983 | G | T |
c.333C>A
|
p.Tyr111Ter
|
- | 4.0 |
|
B | |
| 18989 | chr2 | 58226757 | T | C |
c.244A>G
|
p.Ser82Gly
|
- | 3.0 |
|
B | |
| 4210 | chr2 | 58232118 | G | A |
c.97-6C>T
|
-
|
3.0 |
|
B | ||
| 25357 | chr2 | 58241260 | C | T |
c.54G>A
|
p.Gln18=
|
- | 3.0 |
|
B | |
| 25902 | chr2 | 58241325 | C | A |
c.-12G>T
|
-
|
- | 3.0 |
|
B | |
| 4629 | chr2 | 60461260 | A | T |
c.1652T>A
|
p.Val551Glu
|
- | 3.0 |
|
B | |
| 22829 | chr2 | 60891675 | C | T |
c.11-8C>T
|
-
|
3.0 |
|
B | ||
| 2006 | chr2 | 60891766 | G | A |
c.94G>A
|
p.Ala32Thr
|
- | 3.0 |
|
B | |
| 2007 | chr2 | 60891767 | C | T |
c.95C>T
|
p.Ala32Val
|
3.0 |
|
B | ||
| 18545 | chr2 | 60900984 | C | T |
c.303-8C>T
|
-
|
- | 3.0 |
|
B | |
| 19383 | chr2 | 60916858 | A | AT |
c.395-9dup
|
-
|
2.0 |
|
B | ||
| 23819 | chr2 | 60916858 | A | T |
c.395-19A>T
|
-
|
2.0 |
|
B | ||
| 15792 | chr2 | 60916858 | AT | A |
c.395-9del
|
-
|
2.0 |
|
B | ||
| 12705 | chr2 | 60917003 | C | T |
c.521C>T
|
p.Pro174Leu
|
3.0 |
|
B | ||
| 13369 | chr2 | 60918289 | C | A |
c.634C>A
|
p.Gln212Lys
|
- | 3.0 |
|
B | |
| 8048 | chr2 | 60920111 | T | C |
c.922+2T>C
|
p.?
|
- | 3.0 |
|
B |