Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 16420 | chr2 | 178767742 | T | C |
c.9471+17A>G
|
-
|
- | 3.0 |
|
B | |
| 13007 | chr2 | 178767874 | G | A |
c.9356C>T
|
p.Thr3119Ile
|
3.0 |
|
B | ||
| 24527 | chr2 | 178767893 | G | A |
c.9337C>T
|
p.Arg3113Cys
|
3.0 |
|
B | ||
| 22274 | chr2 | 178768008 | A | G |
c.9305+6T>C
|
-
|
- | 3.0 |
|
B | |
| 30175 | chr2 | 178768663 | G | A |
c.9163+10C>T
|
-
|
- | 3.0 |
|
B | |
| 21151 | chr2 | 178768940 | A | C |
c.8903-7T>G
|
-
|
- | 3.0 |
|
B | |
| 32758 | chr2 | 178769665 | ATT | A |
c.8902+12_8902+13del
|
-
|
2.0 |
|
B | ||
| 18072 | chr2 | 178769756 | T | C |
c.8825A>G
|
p.Asn2942Ser
|
- | 3.0 |
|
B | |
| 14630 | chr2 | 178769846 | G | A |
c.8735C>T
|
p.Ser2912Phe
|
- | 3.0 |
|
B | |
| 20918 | chr2 | 178769908 | G | C |
c.8673C>G
|
p.Ile2891Met
|
3.0 |
|
B | ||
| 17237 | chr2 | 178770328 | G | A |
c.8381-8C>T
|
-
|
2.5 |
|
B | ||
| 25110 | chr2 | 178770418 | C | T |
c.8374G>A
|
p.Val2792Met
|
3.0 |
|
B | ||
| 19263 | chr2 | 178770479 | G | C |
c.8313C>G
|
p.Ile2771Met
|
3.0 |
|
B | ||
| 32856 | chr2 | 178770646 | G | T |
c.8146C>A
|
p.Leu2716Ile
|
- | 3.0 |
|
B | |
| 25364 | chr2 | 178770652 | T | C |
c.8140A>G
|
p.Lys2714Glu
|
- | 3.0 |
|
B | |
| 23680 | chr2 | 178771306 | C | A |
c.8021G>T
|
p.Arg2674Met
|
- | 3.0 |
|
B | |
| 31171 | chr2 | 178773229 | T | C |
c.7735A>G
|
p.Lys2579Glu
|
- | 3.0 |
|
B | |
| 17982 | chr2 | 178773240 | C | A |
c.7724G>T
|
p.Ser2575Ile
|
- | 3.0 |
|
B | |
| 21212 | chr2 | 178773260 | C | T |
c.7704G>A
|
p.Lys2568=
|
2.5 |
|
B | ||
| 12596 | chr2 | 178773269 | C | T |
c.7695G>A
|
p.Trp2565Ter
|
- | 3.0 |
|
B |