Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 34429 | chr7 | 128844736 | G | T |
c.3271G>T
|
p.Gly1091Cys
|
- | 3.0 |
|
B | |
| 35570 | chr7 | 128846032 | G | T |
c.3833G>T
|
p.Arg1278Ile
|
- | 3.0 |
|
B | |
| 33395 | chr7 | 128846086 | C | T |
c.3887C>T
|
p.Ser1296Leu
|
2.5 |
|
B | ||
| 16754 | chr7 | 128847684 | C | T |
c.4289-13C>T
|
-
|
- | 3.0 |
|
B | |
| 20932 | chr7 | 128847708 | C | T |
c.4300C>T
|
p.Arg1434Cys
|
2.5 |
|
B | ||
| 25371 | chr7 | 128848545 | C | T |
c.4581-16C>T
|
-
|
- | 3.0 |
|
B | |
| 25629 | chr7 | 128848562 | C | T |
c.4582C>T
|
p.Pro1528Ser
|
- | 3.0 |
|
B | |
| 29499 | chr7 | 128848686 | C | T |
c.4706C>T
|
p.Ala1569Val
|
3.0 |
|
B | ||
| 27723 | chr7 | 128848737 | A | T |
c.4737+20A>T
|
-
|
- | 3.0 |
|
B | |
| 17871 | chr7 | 128848773 | G | A |
c.4738-20G>A
|
-
|
- | 3.0 |
|
B | |
| 27873 | chr7 | 128848880 | C | G |
c.4825C>G
|
p.Arg1609Gly
|
3.0 |
|
B | ||
| 14846 | chr7 | 128848908 | G | A |
c.4853G>A
|
p.Gly1618Asp
|
- | 3.0 |
|
B | |
| 15668 | chr7 | 128848934 | C | T |
c.4879C>T
|
p.Arg1627Cys
|
2.5 |
|
B | ||
| 21392 | chr7 | 128849328 | C | A |
c.4952-3C>A
|
-
|
- | 3.0 |
|
B | |
| 12563 | chr7 | 128849465 | G | C |
c.5086G>C
|
p.Glu1696Gln
|
- | 3.0 |
|
B | |
| 11174 | chr7 | 128849511 | C | T |
c.5132C>T
|
p.Pro1711Leu
|
3.0 |
|
B | ||
| 11173 | chr7 | 128850064 | CCA | C |
c.5294_5295del
|
p.His1765LeufsTer65
|
- | 3.0 |
|
B | |
| 30434 | chr7 | 128850087 | C | T |
c.5298+13C>T
|
-
|
2.0 |
|
B | ||
| 27147 | chr7 | 128850366 | C | T |
c.5299-18C>T
|
-
|
- | 3.0 |
|
B | |
| 24476 | chr7 | 128850411 | G | A |
c.5326G>A
|
p.Glu1776Lys
|
- | 3.0 |
|
B |