Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 8322 | chr2 | 178728201 | A | T |
c.19623T>A
|
p.Asn6541Lys
|
- | 3.0 |
|
B | |
| 33847 | chr2 | 178728353 | C | T |
c.19471G>A
|
p.Asp6491Asn
|
3.0 |
|
B | ||
| 35437 | chr2 | 178728367 | T | G |
c.19457A>C
|
p.Lys6486Thr
|
- | 3.0 |
|
B | |
| 15650 | chr2 | 178728402 | C | T |
c.19427-5G>A
|
-
|
- | 3.0 |
|
B | |
| 14444 | chr2 | 178728512 | A | C |
-
|
-
|
-
|
- | 3.0 |
|
B |
| 31887 | chr2 | 178728568 | C | T |
c.19358G>A
|
p.Gly6453Asp
|
- | 3.0 |
|
B | |
| 21605 | chr2 | 178728598 | C | T |
c.19328G>A
|
p.Arg6443Lys
|
- | 3.0 |
|
B | |
| 25363 | chr2 | 178728748 | G | A |
c.19178C>T
|
p.Ser6393Leu
|
- | 3.0 |
|
B | |
| 24899 | chr2 | 178728764 | C | G |
c.19162G>C
|
p.Val6388Leu
|
- | 3.0 |
|
B | |
| 16393 | chr2 | 178729044 | G | T |
c.18994C>A
|
p.Leu6332Ile
|
- | 3.0 |
|
B | |
| 17606 | chr2 | 178729134 | T | C |
c.18904A>G
|
p.Thr6302Ala
|
- | 3.0 |
|
B | |
| 19296 | chr2 | 178729534 | C | G |
c.18622G>C
|
p.Val6208Leu
|
3.0 |
|
B | ||
| 26241 | chr2 | 178729711 | C | T |
c.18542G>A
|
p.Arg6181Gln
|
2.5 |
|
B | ||
| 31255 | chr2 | 178729721 | A | T |
c.18532T>A
|
p.Cys6178Ser
|
- | 3.0 |
|
B | |
| 20893 | chr2 | 178729789 | G | A |
c.18464C>T
|
p.Ser6155Phe
|
3.0 |
|
B | ||
| 29688 | chr2 | 178729877 | C | G |
c.18376G>C
|
p.Glu6126Gln
|
3.0 |
|
B | ||
| 18557 | chr2 | 178729954 | G | A |
c.18308-9C>T
|
-
|
3.0 |
|
B | ||
| 25212 | chr2 | 178730116 | C | A |
c.18284G>T
|
p.Ser6095Ile
|
- | 3.0 |
|
B | |
| 11709 | chr2 | 178730159 | T | G |
c.18241A>C
|
p.Thr6081Pro
|
- | 3.0 |
|
B | |
| 17470 | chr2 | 178730604 | C | A |
c.17929G>T
|
p.Glu5977Ter
|
- | 3.0 |
|
B |