Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 34685 | chr2 | 21002491 | C | G |
c.12931G>C
|
p.Glu4311Gln
|
- | 3.0 |
|
B | |
| 14471 | chr2 | 21002532 | C | T |
c.12890G>A
|
p.Arg4297His
|
2.5 |
|
B | ||
| 28134 | chr2 | 21002533 | G | A |
c.12889C>T
|
p.Arg4297Cys
|
2.5 |
|
B | ||
| 29435 | chr2 | 21002578 | C | G |
c.12844G>C
|
p.Glu4282Gln
|
3.0 |
|
B | ||
| 33092 | chr2 | 21002587 | CT | C |
c.12834del
|
p.Glu4279LysfsTer31
|
- | 3.0 |
|
B | |
| 26107 | chr2 | 21002884 | G | A |
c.12538C>T
|
p.Gln4180Ter
|
3.0 |
|
B | ||
| 17202 | chr2 | 21002962 | C | T |
c.12460G>A
|
p.Glu4154Lys
|
3.0 |
|
B | ||
| 15161 | chr2 | 21002975 | C | G |
c.12447G>C
|
p.Gln4149His
|
- | 3.0 |
|
B | |
| 12556 | chr2 | 21003121 | A | T |
c.12301T>A
|
p.Ser4101Thr
|
- | 3.0 |
|
B | |
| 23028 | chr2 | 21003181 | G | A |
c.12241C>T
|
p.Leu4081Phe
|
- | 3.0 |
|
B | |
| 30467 | chr2 | 21003277 | C | T |
c.12145G>A
|
p.Asp4049Asn
|
- | 3.0 |
|
B | |
| 13367 | chr2 | 21003346 | GA | G |
c.12088-13del
|
-
|
1.5 |
|
B | ||
| 28452 | chr2 | 21003348 | A | G |
c.12088-14T>C
|
-
|
2.0 |
|
B | ||
| 18273 | chr2 | 21004291 | C | T |
c.12065G>A
|
p.Trp4022Ter
|
3.0 |
|
B | ||
| 17684 | chr2 | 21004340 | C | T |
c.12016G>A
|
p.Val4006Ile
|
2.0 |
|
B | ||
| 19349 | chr2 | 21004411 | G | A |
c.11945C>T
|
p.Ala3982Val
|
2.0 |
|
B | ||
| 33174 | chr2 | 21004417 | C | A |
c.11939G>T
|
p.Ser3980Ile
|
- | 3.0 |
|
B | |
| 16684 | chr2 | 21004451 | C | T |
c.11905G>A
|
p.Glu3969Lys
|
3.0 |
|
B | ||
| 12590 | chr2 | 21004589 | C | T |
c.11875G>A
|
p.Glu3959Lys
|
- | 3.0 |
|
B | |
| 13830 | chr2 | 21004683 | G | A |
c.11789-8C>T
|
-
|
2.0 |
|
B |