Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 29439 | chr3 | 52402621 | G | C |
-
c.2037C>G
|
-
p.Ile679Met
|
- | 3.0 |
|
B | |
| 33643 | chr3 | 52402675 | C | T |
-
c.1984-1G>A
|
-
p.?
|
4.0 |
|
B | ||
| 12157 | chr3 | 52402691 | G | C |
-
c.1984-17C>G
|
-
-
|
- | 3.5 |
|
B | |
| 29919 | chr3 | 52402844 | CCA | C |
-
c.1916_1917del
|
-
p.Val639GlyfsTer3
|
- | 4.0 |
|
B | |
| 27039 | chr3 | 52402872 | C | CA |
-
c.1891-2_1891-1insT
|
-
p.?
|
- | 4.0 |
|
B | |
| 18637 | chr3 | 52403193 | TTC | T |
-
c.1833_1834del
|
-
p.Lys612AspfsTer30
|
- | 4.0 |
|
B | |
| 21507 | chr3 | 52403206 | C | T |
-
c.1822G>A
|
-
p.Asp608Asn
|
- | 3.0 |
|
B | |
| 18661 | chr3 | 52403280 | G | A |
-
c.1748C>T
|
-
p.Ser583Leu
|
2.5 |
|
B | ||
| 33036 | chr3 | 52403414 | A | C |
-
c.1729+2T>G
|
-
p.?
|
4.0 |
|
B | ||
| 19138 | chr3 | 52403434 | TC | T |
-
c.1710del
|
-
p.Ser571ValfsTer5
|
- | 4.0 |
|
B | |
| 9310 | chr3 | 52403523 | A | G |
-
c.1622T>C
|
-
p.Val541Ala
|
- | 3.0 |
|
B | |
| 8799 | chr3 | 52403607 | G | C |
-
c.1538C>G
|
-
p.Ser513Ter
|
- | 4.0 |
|
B | |
| 7217 | chr3 | 52403631 | GAGTTGAAAGCACTGCCGATCTC | G |
-
c.1492_1513del
|
-
p.Glu498ArgfsTer66
|
- | 4.0 |
|
B | |
| 22189 | chr3 | 52403636 | G | T |
-
c.1509C>A
|
-
p.Phe503Leu
|
- | 3.0 |
|
B | |
| 172 | chr3 | 52403653 | C | A |
-
c.1492G>T
|
-
p.Glu498Ter
|
- | 4.5 |
|
A | |
| 30222 | chr3 | 52403675 | ATTGCTGGGGGTGGGT | A |
-
c.1455_1469del
|
-
p.Pro486_Asn490del
|
- | 3.0 |
|
B | |
| 33011 | chr3 | 52403741 | GCT | G |
-
c.1402_1403del
|
-
p.Ser468GlnfsTer23
|
- | 4.0 |
|
B | |
| 23878 | chr3 | 52403761 | GA | G |
-
c.1383del
|
-
p.Pro462LeufsTer109
|
- | 4.0 |
|
B | |
| 27710 | chr3 | 52403830 | C | A |
-
c.1315G>T
|
-
p.Val439Leu
|
3.0 |
|
B | ||
| 23460 | chr3 | 52403844 | T | TCAG |
-
c.1298_1300dup
|
-
p.Ala433dup
|
- | 3.0 |
|
B |