Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 11660 | chr9 | 136502480 | C | T |
c.5176G>A
|
p.Val1726Met
|
2.5 |
|
B | ||
| 10618 | chr9 | 136502497 | A | T |
c.5168-9T>A
|
-
|
- | 3.0 |
|
B | |
| 7982 | chr9 | 136503175 | CACTT | C |
c.5167+3_5167+6del
|
-
|
- | 3.0 |
|
B | |
| 25098 | chr9 | 136503180 | AC | A |
c.5167+1del
|
p.?
|
- | 4.0 |
|
B | |
| 10299 | chr9 | 136503194 | C | A |
c.5155G>T
|
p.Glu1719Ter
|
- | 4.0 |
|
B | |
| 12664 | chr9 | 136503316 | A | C |
c.5033T>G
|
p.Leu1678Arg
|
- | 3.0 |
|
B | |
| 4889 | chr9 | 136503316 | A | T |
c.5033T>A
|
p.Leu1678Gln
|
- | 3.5 |
|
B | |
| 24218 | chr9 | 136504667 | A | T |
c.5018+6T>A
|
-
|
3.0 |
|
B | ||
| 12569 | chr9 | 136504698 | C | A |
c.4993G>T
|
p.Glu1665Ter
|
- | 4.0 |
|
B | |
| 5399 | chr9 | 136504737 | G | C |
c.4954C>G
|
p.Leu1652Val
|
- | 3.0 |
|
B | |
| 24760 | chr9 | 136504869 | G | A |
c.4822C>T
|
p.Arg1608Cys
|
3.0 |
|
B | ||
| 15298 | chr9 | 136505011 | G | T |
c.4680C>A
|
p.Asp1560Glu
|
- | 3.0 |
|
B | |
| 34027 | chr9 | 136505405 | C | A |
c.4491G>T
|
p.Trp1497Cys
|
- | 3.0 |
|
B | |
| 13360 | chr9 | 136505405 | C | T |
c.4491G>A
|
p.Trp1497Ter
|
- | 4.5 |
|
B | |
| 8643 | chr9 | 136505428 | A | T |
c.4468T>A
|
p.Cys1490Ser
|
- | 3.0 |
|
B | |
| 21320 | chr9 | 136505470 | C | A |
c.4426G>T
|
p.Gly1476Cys
|
- | 3.0 |
|
B | |
| 15940 | chr9 | 136505511 | ACCTTGTTGCCCGCGTCCTCCTGGCAC | A |
c.4359_4384del
|
p.Glu1453AspfsTer17
|
- | 4.5 |
|
B | |
| 7085 | chr9 | 136505575 | G | A |
c.4321C>T
|
p.Pro1441Ser
|
3.0 |
|
B | ||
| 31069 | chr9 | 136505824 | G | A |
c.4072C>T
|
p.Leu1358Phe
|
- | 3.0 |
|
B | |
| 10204 | chr9 | 136505887 | C | T |
c.4015-6G>A
|
-
|
3.5 |
|
B |