Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 15386 | chr14 | 21403127 | G | A |
c.3604C>T
|
p.Arg1202Cys
|
- | 3.0 |
|
B | |
| 20393 | chr14 | 21403229 | GA | G |
c.3519-18del
|
-
|
- | 3.0 |
|
B | |
| 27480 | chr14 | 21403451 | A | T |
c.3518+2T>A
|
p.?
|
- | 3.0 |
|
B | |
| 11969 | chr14 | 21403467 | A | C |
c.3504T>G
|
p.Tyr1168Ter
|
- | 3.0 |
|
B | |
| 31043 | chr14 | 21403583 | G | A |
c.3388C>T
|
p.Arg1130Cys
|
3.0 |
|
B | ||
| 7253 | chr14 | 21405240 | GC | G |
c.3275del
|
p.Arg1092ProfsTer18
|
- | 3.0 |
|
B | |
| 10527 | chr14 | 21405242 | G | A |
c.3274C>T
|
p.Arg1092Cys
|
3.0 |
|
B | ||
| 26267 | chr14 | 21405312 | ATTC | A |
c.3201_3203del
|
p.Lys1067del
|
- | 3.0 |
|
B | |
| 26902 | chr14 | 21405389 | G | A |
c.3127C>T
|
p.Pro1043Ser
|
3.0 |
|
B | ||
| 6287 | chr14 | 21405780 | G | A |
c.2992C>T
|
p.Gln998Ter
|
3.0 |
|
B | ||
| 18330 | chr14 | 21405877 | G | A |
c.2908-13C>T
|
-
|
- | 3.0 |
|
B | |
| 15946 | chr14 | 21406896 | C | T |
c.2867G>A
|
p.Arg956His
|
- | 3.0 |
|
B | |
| 578 | chr14 | 21408344 | G | A |
c.2698C>T
|
p.Gln900Ter
|
3.0 |
|
B | ||
| 6562 | chr14 | 21408530 | T | C |
c.2512A>G
|
p.Met838Val
|
- | 3.0 |
|
B | |
| 23126 | chr14 | 21408534 | A | C |
c.2508T>G
|
p.Asp836Glu
|
- | 3.0 |
|
B | |
| 29347 | chr14 | 21408573 | G | GA |
c.2487-19dup
|
-
|
1.0 |
|
B | ||
| 32638 | chr14 | 21408573 | GA | G |
c.2487-19del
|
-
|
2.0 |
|
B | ||
| 7848 | chr14 | 21409898 | G | A |
c.2317C>T
|
p.Arg773Ter
|
3.0 |
|
B | ||
| 1922 | chr14 | 21412924 | C | G |
c.2215G>C
|
p.Asp739His
|
- | 3.0 |
|
B | |
| 5537 | chr14 | 21412941 | G | C |
c.2198C>G
|
p.Ser733Cys
|
- | 3.0 |
|
B |