Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 21602 | chr2 | 178689505 | G | A |
c.31927+10C>T
|
-
|
3.0 |
|
B | ||
| 29199 | chr2 | 178689568 | G | C |
c.31874C>G
|
p.Thr10625Arg
|
- | 3.0 |
|
B | |
| 27245 | chr2 | 178689593 | G | A |
c.31849C>T
|
p.Pro10617Ser
|
- | 3.0 |
|
B | |
| 11435 | chr2 | 178689796 | G | A |
c.31846+17C>T
|
-
|
2.0 |
|
B | ||
| 12620 | chr2 | 178689855 | G | T |
c.31804C>A
|
p.Pro10602Thr
|
- | 3.0 |
|
B | |
| 35566 | chr2 | 178692033 | G | A |
c.31745C>T
|
p.Pro10582Leu
|
3.0 |
|
B | ||
| 12447 | chr2 | 178692070 | C | T |
c.31708G>A
|
p.Glu10570Lys
|
- | 3.0 |
|
B | |
| 28246 | chr2 | 178692079 | G | A |
c.31699C>T
|
p.Pro10567Ser
|
3.0 |
|
B | ||
| 19262 | chr2 | 178692081 | T | G |
c.31697A>C
|
p.Lys10566Thr
|
- | 3.0 |
|
B | |
| 14879 | chr2 | 178692097 | G | A |
c.31681C>T
|
p.Pro10561Ser
|
- | 3.0 |
|
B | |
| 26596 | chr2 | 178693928 | C | T |
c.31507G>A
|
p.Val10503Ile
|
3.0 |
|
B | ||
| 20591 | chr2 | 178693984 | A | G |
c.31451T>C
|
p.Met10484Thr
|
2.5 |
|
B | ||
| 15540 | chr2 | 178695403 | A | C |
c.31215T>G
|
p.His10405Gln
|
- | 3.0 |
|
B | |
| 20832 | chr2 | 178695949 | C | T |
c.31123G>A
|
p.Glu10375Lys
|
- | 3.0 |
|
B | |
| 12710 | chr2 | 178696009 | C | T |
c.31063G>A
|
p.Glu10355Lys
|
- | 3.0 |
|
B | |
| 31123 | chr2 | 178696180 | C | A |
c.30892G>T
|
p.Ala10298Ser
|
- | 3.0 |
|
B | |
| 32934 | chr2 | 178697163 | C | T |
c.30760G>A
|
p.Val10254Ile
|
- | 3.0 |
|
B | |
| 24863 | chr2 | 178701205 | T | C |
c.30599-2A>G
|
p.?
|
- | 3.0 |
|
B | |
| 23443 | chr2 | 178701533 | G | T |
c.30593C>A
|
p.Pro10198Gln
|
- | 3.0 |
|
B | |
| 11443 | chr2 | 178702075 | TA | T |
c.30512-10del
|
-
|
2.5 |
|
B |