Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 3996 | chr3 | 189894284 | G | A |
c.1825G>A
|
p.Glu609Lys
|
3.0 |
|
B | ||
| 26600 | chr3 | 189894425 | G | A |
c.1966G>A
|
p.Asp656Asn
|
- | 3.0 |
|
B | |
| 27460 | chr3 | 189894488 | G | A |
c.2029G>A
|
p.Glu677Lys
|
- | 3.0 |
|
B | |
| 4063 | chr3 | 190645726 | C | T |
c.1229C>T
|
p.Ser410Phe
|
- | 3.0 |
|
B | |
| 25366 | chr3 | 192798690 | T | A |
c.1172A>T
|
p.Glu391Val
|
- | 3.0 |
|
B | |
| 18639 | chr3 | 192798930 | TG | T |
c.931del
|
p.Gln311ArgfsTer25
|
- | 3.0 |
|
B | |
| 23628 | chr3 | 192798985 | T | A |
c.877A>T
|
p.Arg293Trp
|
- | 3.0 |
|
B | |
| 19568 | chr3 | 192799219 | T | A |
c.643A>T
|
p.Lys215Ter
|
- | 3.0 |
|
B | |
| 25990 | chr3 | 192799425 | G | C |
c.437C>G
|
p.Ser146Cys
|
- | 3.0 |
|
B | |
| 26291 | chr3 | 192917721 | G | C |
c.120C>G
|
p.Ile40Met
|
3.0 |
|
B | ||
| 933 | chr3 | 193491389 | T | C |
c.543A>G
|
p.Ile181Met
|
1.0 |
|
B | ||
| 4483 | chr3 | 195779032 | G | A |
c.12548C>T
|
p.Ser4183Phe
|
- | 3.0 |
|
B | |
| 3511 | chr3 | 195788482 | T | G |
c.3098A>C
|
p.Glu1033Ala
|
2.0 |
|
B | ||
| 3512 | chr3 | 195788496 | G | A |
c.3084C>T
|
p.Thr1028=
|
3.0 |
|
B | ||
| 19982 | chr3 | 196052070 | G | A |
c.2155C>T
|
p.Arg719Cys
|
3.0 |
|
B | ||
| 15175 | chr3 | 196052108 | G | C |
c.2117C>G
|
p.Ser706Cys
|
3.0 |
|
B | ||
| 33270 | chr3 | 196062565 | A | C |
c.1468+17T>G
|
-
|
- | 3.0 |
|
B | |
| 17570 | chr3 | 196064392 | C | A |
c.1235G>T
|
p.Trp412Leu
|
- | 3.0 |
|
B | |
| 27407 | chr3 | 196065441 | A | C |
c.1198+2T>G
|
p.?
|
3.0 |
|
B | ||
| 29354 | chr3 | 196065451 | A | C |
c.1190T>G
|
p.Val397Gly
|
- | 3.0 |
|
B |