Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 8831 | chr2 | 188999326 | G | T |
c.2064G>T
|
p.Leu688Phe
|
- | 3.0 |
|
B | |
| 4587 | chr2 | 188999352 | G | A |
c.2090G>A
|
p.Gly697Glu
|
- | 3.0 |
|
B | |
| 22689 | chr2 | 188999512 | C | T |
c.2164C>T
|
p.Pro722Ser
|
- | 3.0 |
|
B | |
| 35504 | chr2 | 188999540 | GAGGAGGTCTTGGAA | G |
c.2193_2206del
|
p.Gly732SerfsTer6
|
- | 3.0 |
|
B | |
| 6939 | chr2 | 188999567 | A | G |
c.2219A>G
|
p.Lys740Arg
|
- | 3.0 |
|
B | |
| 4459 | chr2 | 188999896 | G | A |
c.2283+1G>A
|
p.?
|
3.0 |
|
B | ||
| 4162 | chr2 | 188999900 | G | T |
c.2283+5G>T
|
-
|
- | 3.0 |
|
B | |
| 19972 | chr2 | 188999905 | C | T |
c.2283+10C>T
|
-
|
- | 3.0 |
|
B | |
| 30731 | chr2 | 189001555 | G | A |
c.2357G>A
|
p.Gly786Glu
|
- | 3.0 |
|
B | |
| 2508 | chr2 | 189001558 | T | C |
c.2360T>C
|
p.Leu787Pro
|
- | 3.0 |
|
B | |
| 18933 | chr2 | 189002281 | G | T |
c.2392-17G>T
|
-
|
- | 3.0 |
|
B | |
| 23822 | chr2 | 189003394 | C | T |
c.2554-17C>T
|
-
|
- | 3.0 |
|
B | |
| 25121 | chr2 | 189003404 | C | T |
c.2554-7C>T
|
-
|
3.0 |
|
B | ||
| 8915 | chr2 | 189003415 | C | T |
c.2558C>T
|
p.Pro853Leu
|
- | 3.0 |
|
B | |
| 8074 | chr2 | 189003977 | T | C |
c.2662-5T>C
|
-
|
- | 3.0 |
|
B | |
| 33641 | chr2 | 189003986 | A | G |
c.2666A>G
|
p.Asn889Ser
|
3.0 |
|
B | ||
| 15738 | chr2 | 189004089 | AG | A |
c.2771del
|
p.Gly924ValfsTer312
|
- | 3.0 |
|
B | |
| 6811 | chr2 | 189004113 | G | C |
c.2793G>C
|
p.Glu931Asp
|
- | 3.0 |
|
B | |
| 27112 | chr2 | 189004118 | G | A |
c.2798G>A
|
p.Gly933Glu
|
- | 3.0 |
|
B | |
| 7054 | chr2 | 189004121 | C | A |
c.2801C>A
|
p.Ser934Ter
|
- | 3.0 |
|
B |