Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 27360 | chr14 | 67179582 | C | A |
c.2084C>A
|
p.Ser695Ter
|
- | 3.0 |
|
B | |
| 26973 | chr14 | 67180821 | C | T |
c.2194C>T
|
p.Arg732Cys
|
- | 3.0 |
|
B | |
| 19741 | chr14 | 67823596 | G | A |
c.53G>A
|
p.Arg18His
|
3.0 |
|
B | ||
| 25846 | chr14 | 67825544 | G | T |
c.165G>T
|
p.Met55Ile
|
- | 3.0 |
|
B | |
| 666 | chr14 | 67825576 | C | G |
c.197C>G
|
p.Thr66Arg
|
- | 4.0 |
|
B | |
| 19892 | chr14 | 67865040 | G | T |
c.353G>T
|
p.Cys118Phe
|
3.0 |
|
B | ||
| 12472 | chr14 | 67887064 | C | G |
c.616C>G
|
p.Leu206Val
|
- | 3.0 |
|
B | |
| 18156 | chr14 | 67887251 | C | T |
c.756+47C>T
|
-
|
- | 3.0 |
|
B | |
| 22773 | chr14 | 68291969 | C | T |
c.842C>T
|
p.Ser281Phe
|
- | 3.0 |
|
B | |
| 10832 | chr14 | 68468188 | C | T |
c.974C>T
|
p.Ser325Phe
|
- | 3.0 |
|
B | |
| 23903 | chr14 | 68468199 | C | A |
c.985C>A
|
p.Pro329Thr
|
- | 3.0 |
|
B | |
| 6539 | chr14 | 68594526 | G | T |
c.1037-16480G>T
|
-
|
- | 3.0 |
|
B | |
| 25534 | chr14 | 68611098 | G | A |
c.1129G>A
|
p.Val377Met
|
3.0 |
|
B | ||
| 34116 | chr14 | 68789570 | A | T |
c.980T>A
|
p.Leu327Gln
|
- | 3.0 |
|
B | |
| 5495 | chr14 | 68789638 | G | GC |
c.911dup
|
p.Tyr305LeufsTer34
|
- | 4.0 |
|
B | |
| 32476 | chr14 | 68789676 | G | GA |
c.873dup
|
p.Pro292SerfsTer47
|
- | 3.5 |
|
B | |
| 18710 | chr14 | 68789754 | T | A |
c.796A>T
|
p.Met266Leu
|
3.0 |
|
B | ||
| 2927 | chr14 | 68789777 | A | AGC |
c.771_772dup
|
p.Leu258ArgfsTer50
|
- | 3.5 |
|
B | |
| 22606 | chr14 | 68789884 | G | A |
c.666C>T
|
p.Ser222=
|
- | 3.0 |
|
B | |
| 22607 | chr14 | 68789909 | G | A |
c.641C>T
|
p.Ala214Val
|
- | 3.0 |
|
B |