Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 7989 | chr7 | 152182319 | A | T |
c.5541T>A
|
p.Phe1847Leu
|
- | 4.5 |
|
B | |
| 14506 | chr7 | 152182474 | G | A |
c.5386C>T
|
p.Gln1796Ter
|
- | 4.0 |
|
B | |
| 31776 | chr7 | 152182597 | A | G |
c.5266-3T>C
|
-
|
- | 3.0 |
|
B | |
| 10199 | chr7 | 152183041 | G | A |
c.5198C>T
|
p.Ser1733Leu
|
3.0 |
|
B | ||
| 3906 | chr7 | 152183048 | TACGAG | T |
c.5186_5190del
|
p.Ser1729TyrfsTer2
|
- | 4.0 |
|
B | |
| 34949 | chr7 | 152185537 | TAG | T |
c.5082+19_5082+20del
|
-
|
2.0 |
|
B | ||
| 32220 | chr7 | 152185650 | G | A |
c.5009-19C>T
|
-
|
2.0 |
|
B | ||
| 28958 | chr7 | 152187838 | GA | G |
c.4669del
|
p.Ser1557HisfsTer6
|
- | 4.0 |
|
B | |
| 20576 | chr7 | 152194120 | C | T |
c.4549G>A
|
p.Gly1517Arg
|
3.0 |
|
B | ||
| 8717 | chr7 | 152194249 | C | G |
c.4520G>C
|
p.Gly1507Ala
|
- | 3.0 |
|
B | |
| 19504 | chr7 | 152194273 | T | TA |
c.4508-13dup
|
-
|
2.0 |
|
B | ||
| 330 | chr7 | 152194506 | G | A |
c.4441C>T
|
p.Arg1481Ter
|
4.67 |
|
A | ||
| 32031 | chr7 | 152195898 | C | T |
c.4378+9G>A
|
-
|
- | 3.0 |
|
B | |
| 28552 | chr7 | 152195961 | C | G |
c.4324G>C
|
p.Asp1442His
|
- | 3.0 |
|
B | |
| 1551 | chr7 | 152195966 | G | A |
c.4319C>T
|
p.Thr1440Ile
|
3.0 |
|
B | ||
| 14845 | chr7 | 152199332 | G | A |
c.4220C>T
|
p.Ser1407Phe
|
- | 3.0 |
|
B | |
| 29292 | chr7 | 152199459 | C | G |
c.4093G>C
|
p.Glu1365Gln
|
- | 3.0 |
|
B | |
| 10335 | chr7 | 152202981 | G | A |
c.4045C>T
|
p.Arg1349Ter
|
- | 4.0 |
|
B | |
| 8686 | chr7 | 152205142 | C | T |
c.3925G>A
|
p.Gly1309Ser
|
- | 3.0 |
|
B | |
| 4336 | chr7 | 152207384 | C | A |
c.3757G>T
|
p.Glu1253Ter
|
- | 4.0 |
|
B |