Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 16607 | chr12 | 70539976 | G | A |
c.5641C>T
|
p.Arg1881Ter
|
4.0 |
|
B | ||
| 3825 | chr12 | 70539984 | C | T |
c.5633G>A
|
p.Arg1878His
|
3.0 |
|
B | ||
| 21630 | chr12 | 70540035 | G | A |
c.5595-13C>T
|
-
|
3.0 |
|
B | ||
| 5707 | chr12 | 70540960 | A | G |
c.5495-3T>C
|
-
|
3.5 |
|
B | ||
| 23874 | chr12 | 70544556 | C | G |
c.5494+1G>C
|
p.?
|
- | 4.0 |
|
B | |
| 12982 | chr12 | 70544677 | C | T |
c.5388-14G>A
|
-
|
3.0 |
|
B | ||
| 7599 | chr12 | 70552838 | T | A |
c.5326A>T
|
p.Lys1776Ter
|
- | 4.0 |
|
B | |
| 35218 | chr12 | 70552946 | G | A |
c.5218C>T
|
p.Arg1740Trp
|
3.0 |
|
B | ||
| 22362 | chr12 | 70553023 | G | A |
c.5144-3C>T
|
-
|
- | 3.0 |
|
B | |
| 27168 | chr12 | 70555160 | C | T |
c.5143G>A
|
p.Gly1715Ser
|
- | 3.0 |
|
B | |
| 15547 | chr12 | 70555314 | A | G |
c.4994-5T>C
|
-
|
- | 3.0 |
|
B | |
| 13801 | chr12 | 70555850 | G | A |
c.4993+20C>T
|
-
|
3.0 |
|
B | ||
| 24209 | chr12 | 70555888 | T | C |
c.4975A>G
|
p.Thr1659Ala
|
3.0 |
|
B | ||
| 2499 | chr12 | 70555972 | T | C |
c.4891A>G
|
p.Met1631Val
|
- | 3.0 |
|
B | |
| 30741 | chr12 | 70555989 | T | A |
c.4874A>T
|
p.Lys1625Ile
|
- | 3.0 |
|
B | |
| 7501 | chr12 | 70556043 | C | T |
c.4820G>A
|
p.Cys1607Tyr
|
- | 3.0 |
|
B | |
| 16265 | chr12 | 70559309 | A | G |
c.4714+34T>C
|
-
|
- | 3.0 |
|
B | |
| 10241 | chr12 | 70559391 | C | G |
c.4666G>C
|
p.Asp1556His
|
- | 3.0 |
|
B | |
| 7648 | chr12 | 70559498 | G | C |
c.4559C>G
|
p.Ala1520Gly
|
- | 3.0 |
|
B | |
| 10263 | chr12 | 70559561 | C | T |
c.4496G>A
|
p.Trp1499Ter
|
- | 3.5 |
|
B |