Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 31446 | chr14 | 65102306 | CG | C |
c.33del
|
p.Ser11ArgfsTer54
|
- | 4.0 |
|
B | |
| 9068 | chr14 | 65102319 | G | C |
c.21C>G
|
p.Ile7Met
|
3.0 |
|
B | ||
| 1796 | chr14 | 65102327 | C | T |
c.13G>A
|
p.Asp5Asn
|
- | 3.0 |
|
B | |
| 1797 | chr14 | 65102333 | C | T |
c.7G>A
|
p.Asp3Asn
|
- | 3.0 |
|
B | |
| 24255 | chr14 | 65102431 | T | TC |
c.-93dup
|
-
|
3.0 |
|
B | ||
| 30743 | chr14 | 66879969 | C | T |
c.325C>T
|
p.Pro109Ser
|
- | 3.0 |
|
B | |
| 15363 | chr14 | 66916061 | G | A |
c.448G>A
|
p.Gly150Arg
|
- | 3.0 |
|
B | |
| 14682 | chr14 | 66922945 | C | T |
c.729+7C>T
|
-
|
- | 3.0 |
|
B | |
| 27328 | chr14 | 66922956 | T | G |
c.729+18T>G
|
-
|
- | 2.5 |
|
B | |
| 23186 | chr14 | 66965251 | A | C |
c.889A>C
|
p.Ser297Arg
|
- | 3.0 |
|
B | |
| 17369 | chr14 | 66965275 | C | T |
c.913C>T
|
p.Arg305Cys
|
3.0 |
|
B | ||
| 19174 | chr14 | 66965330 | G | A |
c.963+5G>A
|
-
|
- | 3.0 |
|
B | |
| 30921 | chr14 | 67023627 | C | G |
c.964-6C>G
|
-
|
- | 3.0 |
|
B | |
| 30997 | chr14 | 67058708 | C | G |
c.1066C>G
|
p.Leu356Val
|
- | 3.0 |
|
B | |
| 29953 | chr14 | 67088966 | C | T |
c.1145-17C>T
|
-
|
- | 3.0 |
|
B | |
| 26854 | chr14 | 67088994 | C | T |
c.1156C>T
|
p.Arg386Ter
|
3.0 |
|
B | ||
| 22178 | chr14 | 67110246 | G | T |
c.1400G>T
|
p.Arg467Met
|
- | 3.0 |
|
B | |
| 29954 | chr14 | 67111892 | T | C |
c.1445T>C
|
p.Val482Ala
|
3.0 |
|
B | ||
| 32087 | chr14 | 67159415 | G | C |
c.1837G>C
|
p.Asp613His
|
- | 3.0 |
|
B | |
| 19740 | chr14 | 67159469 | A | G |
c.1891A>G
|
p.Arg631Gly
|
- | 3.0 |
|
B |