Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1867 | chr16 | 56748253 | T | G |
c.6T>G
|
p.Asp2Glu
|
- | 3.0 |
|
B | |
| 26125 | chr16 | 56748287 | G | A |
c.40G>A
|
p.Glu14Lys
|
3.0 |
|
B | ||
| 17628 | chr16 | 56748288 | A | T |
c.41A>T
|
p.Glu14Val
|
- | 3.0 |
|
B | |
| 16551 | chr16 | 56748289 | A | T |
c.42A>T
|
p.Glu14Asp
|
- | 3.0 |
|
B | |
| 20763 | chr16 | 56748290 | C | G |
c.43C>G
|
p.Gln15Glu
|
3.0 |
|
B | ||
| 30550 | chr16 | 56748305 | A | C |
c.58A>C
|
p.Thr20Pro
|
- | 3.0 |
|
B | |
| 31928 | chr16 | 56748361 | G | T |
c.114G>T
|
p.Gln38His
|
- | 3.0 |
|
B | |
| 20406 | chr16 | 56748378 | G | A |
c.131G>A
|
p.Arg44His
|
3.0 |
|
B | ||
| 28126 | chr16 | 56798469 | T | C |
c.298-7T>C
|
-
|
- | 3.0 |
|
B | |
| 9639 | chr16 | 56798471 | T | C |
c.298-5T>C
|
-
|
- | 3.0 |
|
B | |
| 16113 | chr16 | 56798522 | A | T |
c.344A>T
|
p.Glu115Val
|
- | 3.0 |
|
B | |
| 5138 | chr16 | 56805640 | G | A |
c.489+8G>A
|
-
|
- | 3.0 |
|
B | |
| 1768 | chr16 | 56821534 | G | C |
c.595G>C
|
p.Gly199Arg
|
- | 3.0 |
|
B | |
| 34920 | chr16 | 56823863 | A | T |
c.794+17A>T
|
-
|
- | 3.0 |
|
B | |
| 18331 | chr16 | 56832021 | C | T |
c.1251+14C>T
|
-
|
3.0 |
|
B | ||
| 11889 | chr16 | 56832407 | C | T |
c.1345+19C>T
|
-
|
- | 3.0 |
|
B | |
| 27963 | chr16 | 56834197 | C | G |
c.1607C>G
|
p.Thr536Ser
|
3.0 |
|
B | ||
| 5561 | chr16 | 56834256 | T | C |
c.1664+2T>C
|
p.?
|
- | 3.0 |
|
B | |
| 33584 | chr16 | 56834357 | A | T |
c.1665-13A>T
|
-
|
- | 3.0 |
|
B | |
| 20407 | chr16 | 56834437 | C | T |
c.1732C>T
|
p.Arg578Ter
|
3.0 |
|
B |