Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 35116 | chr16 | 1078888 | C | G |
c.20C>G
|
p.Ala7Gly
|
- | 3.0 |
|
B | |
| 16435 | chr16 | 1078930 | C | T |
c.62C>T
|
p.Ser21Phe
|
- | 3.0 |
|
B | |
| 12300 | chr16 | 1079170 | C | T |
c.302C>T
|
p.Ala101Val
|
- | 3.0 |
|
B | |
| 32770 | chr16 | 1079302 | T | A |
c.434T>A
|
p.Leu145Gln
|
- | 3.0 |
|
B | |
| 27076 | chr16 | 1079527 | G | T |
c.659G>T
|
p.Cys220Phe
|
3.0 |
|
B | ||
| 15406 | chr16 | 1079598 | C | T |
c.730C>T
|
p.Arg244Trp
|
3.0 |
|
B | ||
| 15268 | chr16 | 1666593 | C | T |
c.3029C>T
|
p.Thr1010Ile
|
3.0 |
|
B | ||
| 2094 | chr16 | 2040208 | T | C |
-
c.716A>G
|
-
p.Asn239Ser
|
- | 3.0 |
|
B | |
| 12095 | chr16 | 2043735 | C | A |
-
-
c.526-9G>T
|
-
-
-
|
- | 3.0 |
|
B | |
| 32617 | chr16 | 2044736 | G | A |
-
c.419C>T
|
-
p.Ala140Val
|
3.0 |
|
B | ||
| 11919 | chr16 | 2046217 | C | G |
-
c.265G>C
|
-
p.Val89Leu
|
- | 3.0 |
|
B | |
| 27282 | chr16 | 2047717 | G | T |
-
c.107C>A
|
-
p.Ala36Asp
|
- | 3.0 |
|
B | |
| 29806 | chr16 | 2047721 | C | G |
-
c.103G>C
|
-
p.Glu35Gln
|
2.5 |
|
B | ||
| 29391 | chr16 | 2048156 | C | T |
c.-30+91C>T
-
|
-
-
|
- | 3.0 |
|
B | |
| 32075 | chr16 | 2048544 | G | C |
c.-29-43G>C
-
|
-
-
|
- | 3.0 |
|
B | |
| 28965 | chr16 | 2048760 | G | A |
c.138+7G>A
-
|
-
-
|
2.0 |
|
B | ||
| 26673 | chr16 | 2050380 | C | T |
c.139-20C>T
-
|
-
-
|
2.5 |
|
B | ||
| 21538 | chr16 | 2050431 | G | A |
c.170G>A
-
|
p.Arg57His
-
|
2.5 |
|
B | ||
| 17711 | chr16 | 2050436 | C | T |
c.175C>T
-
|
p.Arg59Trp
-
|
2.5 |
|
B | ||
| 35351 | chr16 | 2050449 | A | C |
c.188A>C
-
|
p.Gln63Pro
-
|
- | 3.0 |
|
B |