Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 9611 | chr3 | 121488802 | C | A |
c.4129G>T
|
p.Ala1377Ser
|
3.0 |
|
B | ||
| 34888 | chr3 | 121488985 | A | G |
c.3946T>C
|
p.Cys1316Arg
|
3.0 |
|
B | ||
| 13020 | chr3 | 121489330 | G | T |
c.3601C>A
|
p.His1201Asn
|
- | 3.0 |
|
B | |
| 12264 | chr3 | 121489693 | C | T |
c.3238G>A
|
p.Asp1080Asn
|
3.0 |
|
B | ||
| 17770 | chr3 | 121489735 | G | A |
c.3196C>T
|
p.His1066Tyr
|
- | 3.0 |
|
B | |
| 13021 | chr3 | 121489872 | G | A |
c.3059C>T
|
p.Ser1020Leu
|
3.0 |
|
B | ||
| 20509 | chr3 | 121489986 | G | C |
c.2945C>G
|
p.Thr982Arg
|
1.0 |
|
B | ||
| 4536 | chr3 | 121490047 | T | G |
c.2884A>C
|
p.Ser962Arg
|
- | 3.0 |
|
B | |
| 17472 | chr3 | 121490077 | A | ATTCTTATATTAAGC |
c.2853_2854insGCTTAATATAAGAA
|
p.Ser952AlafsTer2
|
- | 3.0 |
|
B | |
| 1961 | chr3 | 121490266 | G | C |
c.2665C>G
|
p.Gln889Glu
|
- | 3.0 |
|
B | |
| 33430 | chr3 | 121490272 | G | C |
c.2659C>G
|
p.Leu887Val
|
- | 3.0 |
|
B | |
| 10516 | chr3 | 121490361 | C | T |
c.2570G>A
|
p.Arg857His
|
3.0 |
|
B | ||
| 32107 | chr3 | 121490403 | C | A |
c.2528G>T
|
p.Arg843Leu
|
3.0 |
|
B | ||
| 7466 | chr3 | 121498471 | G | A |
c.2153+6C>T
|
-
|
3.0 |
|
B | ||
| 4373 | chr3 | 121498498 | C | T |
c.2132G>A
|
p.Arg711Gln
|
3.0 |
|
B | ||
| 2645 | chr3 | 121498670 | C | T |
c.1960G>A
|
p.Val654Ile
|
- | 3.0 |
|
B | |
| 26959 | chr3 | 121498677 | G | A |
c.1960-7C>T
|
-
|
- | 3.0 |
|
B | |
| 34392 | chr3 | 121510023 | G | A |
c.1816+16C>T
|
-
|
- | 3.0 |
|
B | |
| 27345 | chr3 | 121510075 | A | C |
c.1780T>G
|
p.Phe594Val
|
- | 3.0 |
|
B | |
| 28545 | chr3 | 121510252 | A | C |
c.1612-9T>G
|
-
|
- | 3.0 |
|
B |