Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 14446 | chr2 | 178751871 | A | C |
-
|
-
|
-
|
- | 3.0 |
|
B |
| 33485 | chr2 | 178751994 | C | T |
c.11311+1130G>A
|
-
|
3.0 |
|
B | ||
| 32855 | chr2 | 178756372 | C | T |
c.11104G>A
|
p.Glu3702Lys
|
- | 3.0 |
|
B | |
| 28455 | chr2 | 178756449 | G | A |
c.11027C>T
|
p.Thr3676Met
|
3.0 |
|
B | ||
| 23450 | chr2 | 178756486 | G | T |
c.10990C>A
|
p.Leu3664Met
|
- | 3.0 |
|
B | |
| 23451 | chr2 | 178756599 | G | A |
c.10877C>T
|
p.Ser3626Phe
|
3.0 |
|
B | ||
| 26867 | chr2 | 178757892 | G | C |
c.10328C>G
|
p.Thr3443Arg
|
- | 3.0 |
|
B | |
| 34003 | chr2 | 178757899 | C | T |
c.10321G>A
|
p.Glu3441Lys
|
- | 3.0 |
|
B | |
| 22272 | chr2 | 178757916 | C | T |
c.10304G>A
|
p.Gly3435Glu
|
- | 3.0 |
|
B | |
| 29371 | chr2 | 178757929 | A | G |
c.10304-13T>C
|
-
|
- | 3.0 |
|
B | |
| 32854 | chr2 | 178764177 | C | T |
c.10114G>A
|
p.Asp3372Asn
|
- | 3.0 |
|
B | |
| 22273 | chr2 | 178764261 | G | A |
c.10030C>T
|
p.Pro3344Ser
|
- | 3.0 |
|
B | |
| 18071 | chr2 | 178764541 | G | A |
c.9974C>T
|
p.Ser3325Leu
|
- | 3.0 |
|
B | |
| 22840 | chr2 | 178764602 | C | T |
c.9913G>A
|
p.Asp3305Asn
|
3.0 |
|
B | ||
| 28543 | chr2 | 178764637 | T | G |
c.9878A>C
|
p.Glu3293Ala
|
- | 3.0 |
|
B | |
| 30473 | chr2 | 178764703 | G | A |
c.9812C>T
|
p.Ser3271Phe
|
3.0 |
|
B | ||
| 8328 | chr2 | 178764787 | T | C |
c.9728A>G
|
p.Gln3243Arg
|
- | 3.0 |
|
B | |
| 18286 | chr2 | 178766437 | C | T |
c.9647G>A
|
p.Gly3216Glu
|
- | 3.0 |
|
B | |
| 28475 | chr2 | 178766473 | C | T |
c.9611G>A
|
p.Arg3204Gln
|
3.0 |
|
B | ||
| 30583 | chr2 | 178766538 | A | T |
c.9546T>A
|
p.Asp3182Glu
|
- | 3.0 |
|
B |