Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 22492 | chr2 | 63045469 | C | A |
c.3452C>A
|
p.Ala1151Asp
|
- | 3.0 |
|
B | |
| 4631 | chr2 | 63378449 | G | T |
c.1685C>A
|
p.Thr562Asn
|
- | 3.0 |
|
B | |
| 4383 | chr2 | 67404245 | G | T |
c.1563G>T
|
p.Lys521Asn
|
3.0 |
|
B | ||
| 2977 | chr2 | 70087994 | A | G |
c.251A>G
|
p.Asn84Ser
|
3.0 |
|
B | ||
| 2163 | chr2 | 70088028 | G | GC |
c.290dup
|
p.Val98GlyfsTer22
|
- | 3.0 |
|
B | |
| 11961 | chr2 | 70088036 | TCACCCTGAGGCTGGTGGTGCCGGC | T |
c.299_322del
|
p.Leu100_Thr107del
|
- | 3.0 |
|
B | |
| 2836 | chr2 | 70088042 | T | A |
c.299T>A
|
p.Leu100Gln
|
3.0 |
|
B | ||
| 16271 | chr2 | 70088042 | T | C |
c.299T>C
|
p.Leu100Pro
|
3.0 |
|
B | ||
| 7002 | chr2 | 70088503 | G | C |
c.760G>C
|
p.Gly254Arg
|
- | 3.0 |
|
B | |
| 35242 | chr2 | 70088549 | G | A |
c.806G>A
|
p.Gly269Asp
|
- | 3.0 |
|
B | |
| 17850 | chr2 | 70088708 | C | G |
c.965C>G
|
p.Ser322Cys
|
- | 3.0 |
|
B | |
| 4632 | chr2 | 70150490 | T | A |
c.1591A>T
|
p.Lys531Ter
|
- | 3.0 |
|
B | |
| 3522 | chr2 | 73081098 | C | T |
c.2134G>A
|
p.Gly712Arg
|
3.0 |
|
B | ||
| 3357 | chr2 | 73385954 | C | T |
c.86C>T
|
p.Ala29Val
|
- | 3.0 |
|
B | |
| 14591 | chr2 | 74362152 | G | A |
c.3610-11C>T
|
-
|
- | 3.0 |
|
B | |
| 14124 | chr2 | 74363186 | G | A |
c.3346-9C>T
|
-
|
- | 3.0 |
|
B | |
| 12706 | chr2 | 74363434 | G | A |
c.3212-7C>T
|
-
|
- | 3.0 |
|
B | |
| 13876 | chr2 | 74365615 | C | T |
c.2929G>A
|
p.Glu977Lys
|
- | 3.0 |
|
B | |
| 32655 | chr2 | 74366583 | G | A |
c.2504C>T
|
p.Thr835Met
|
3.0 |
|
B | ||
| 24884 | chr2 | 74366771 | GCAGCCTTAAACCTGT | G |
c.2463_2466+11del
|
p.?
|
- | 3.0 |
|
B |