Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 32788 | chr14 | 92017695 | T | G |
c.644A>C
|
p.Gln215Pro
|
- | 3.0 |
|
B | |
| 20463 | chr14 | 92021547 | T | C |
c.588+9A>G
|
-
|
- | 3.0 |
|
B | |
| 31975 | chr14 | 92021633 | G | T |
c.511C>A
|
p.Gln171Lys
|
- | 3.0 |
|
B | |
| 19743 | chr14 | 92025424 | GA | G |
c.202-5del
|
-
|
2.5 |
|
B | ||
| 25847 | chr14 | 92025435 | T | C |
c.202-15A>G
|
-
|
- | 3.0 |
|
B | |
| 33321 | chr14 | 92130977 | CA | C |
c.1del
|
p.Met1?
|
- | 3.0 |
|
B | |
| 34976 | chr14 | 92797601 | AGACTG | A |
c.168_172del
|
p.Gly57Ter
|
- | 3.0 |
|
B | |
| 9534 | chr14 | 92797606 | G | A |
c.169G>A
|
p.Gly57Arg
|
- | 3.0 |
|
B | |
| 11836 | chr14 | 92797864 | G | A |
c.427G>A
|
p.Glu143Lys
|
- | 3.0 |
|
B | |
| 22933 | chr14 | 92809411 | C | T |
c.884C>T
|
p.Ala295Val
|
- | 3.0 |
|
B | |
| 31332 | chr14 | 92811623 | G | A |
c.1189G>A
|
p.Glu397Lys
|
3.0 |
|
B | ||
| 34211 | chr14 | 92819796 | C | G |
c.1580C>G
|
p.Ser527Cys
|
- | 3.0 |
|
B | |
| 14250 | chr14 | 92824570 | C | G |
c.1645C>G
|
p.Leu549Val
|
- | 3.0 |
|
B | |
| 1167 | chr14 | 92835565 | G | A |
c.1952G>A
|
p.Arg651His
|
3.0 |
|
B | ||
| 14681 | chr14 | 94378451 | A | T |
c.1255T>A
|
p.Ter419LysextTer18
|
- | 3.0 |
|
B | |
| 9140 | chr14 | 94378506 | T | G |
c.1200A>C
|
p.Glu400Asp
|
1.0 |
|
B | ||
| 1182 | chr14 | 94378619 | T | G |
c.1087A>C
|
p.Thr363Pro
|
- | 3.0 |
|
B | |
| 20685 | chr14 | 94378632 | ATGCAC | A |
c.1069_1073del
|
p.Val357Ter
|
- | 3.0 |
|
B | |
| 6994 | chr14 | 94379458 | T | C |
c.1065+6A>G
|
-
|
3.0 |
|
B | ||
| 34154 | chr14 | 94379486 | T | C |
c.1043A>G
|
p.Glu348Gly
|
- | 3.0 |
|
B |