Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 33938 | chr9 | 15468779 | T | G |
c.1271A>C
|
p.Lys424Thr
|
- | 3.0 |
|
B | |
| 8514 | chr9 | 15468840 | G | A |
c.1210C>T
|
p.Arg404Trp
|
3.0 |
|
B | ||
| 26768 | chr9 | 15471214 | A | G |
c.978-1221T>C
|
-
|
- | 3.0 |
|
B | |
| 15280 | chr9 | 15472613 | GA | G |
c.977+18del
|
-
|
3.0 |
|
B | ||
| 20238 | chr9 | 15472613 | GAA | G |
c.977+17_977+18del
|
-
|
3.0 |
|
B | ||
| 3349 | chr9 | 15472624 | ATACT | A |
c.977+4_977+7del
|
-
|
3.0 |
|
B | ||
| 6260 | chr9 | 15472625 | T | A |
c.977+7A>T
|
-
|
3.0 |
|
B | ||
| 8453 | chr9 | 15474007 | A | T |
c.858+2T>A
|
p.?
|
- | 3.0 |
|
B | |
| 26000 | chr9 | 15474098 | CTTCT | C |
c.765_768del
|
p.Glu256LeufsTer8
|
- | 3.0 |
|
B | |
| 702 | chr9 | 15474149 | C | T |
c.718G>A
|
p.Glu240Lys
|
3.0 |
|
B | ||
| 20068 | chr9 | 15478567 | GA | G |
c.554-16del
|
-
|
3.0 |
|
B | ||
| 11915 | chr9 | 15486077 | G | C |
c.394-9C>G
|
-
|
- | 3.0 |
|
B | |
| 34718 | chr9 | 15489988 | G | A |
c.286C>T
|
p.Gln96Ter
|
- | 3.0 |
|
B | |
| 19161 | chr9 | 15490047 | CCTTTT | C |
c.222_226del
|
p.Lys75PhefsTer2
|
- | 3.0 |
|
B | |
| 27990 | chr9 | 15506560 | C | A |
c.149+1G>T
|
p.?
|
- | 3.0 |
|
B | |
| 13279 | chr9 | 15510139 | C | T |
c.50G>A
|
p.Gly17Asp
|
- | 3.0 |
|
B | |
| 25024 | chr9 | 15510254 | TGCGGGCGGCGGACGCGGGCCCAGCTACCGGGCCC | T |
c.-100_-67del
|
-
|
3.0 |
|
B | ||
| 993 | chr9 | 16436471 | T | G |
c.1723A>C
|
p.Ser575Arg
|
3.0 |
|
B | ||
| 1079 | chr9 | 20354837 | T | A |
c.1474A>T
|
p.Lys492Ter
|
- | 3.0 |
|
B | |
| 1261 | chr9 | 20354854 | T | G |
c.1457A>C
|
p.Lys486Thr
|
- | 3.0 |
|
B |