Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 2584 | chr2 | 108751694 | GAA | G |
c.1625_1626del
|
p.Lys542SerfsTer16
|
- | 4.0 |
|
B | |
| 10189 | chr2 | 108751911 | G | A |
c.1672G>A
|
p.Glu558Lys
|
- | 3.0 |
|
B | |
| 25565 | chr2 | 108753846 | G | A |
c.2077G>A
|
p.Asp693Asn
|
- | 3.0 |
|
B | |
| 29210 | chr2 | 108754962 | G | A |
c.2260G>A
|
p.Glu754Lys
|
3.0 |
|
B | ||
| 20281 | chr2 | 108755164 | A | AT |
c.2383-3dup
|
-
|
1.5 |
|
B | ||
| 11067 | chr2 | 108755164 | AT | A |
c.2383-3del
|
-
|
3.0 |
|
B | ||
| 23432 | chr2 | 108763537 | G | T |
c.2998G>T
|
p.Glu1000Ter
|
- | 4.0 |
|
B | |
| 1200 | chr2 | 108763885 | G | A |
c.3346G>A
|
p.Gly1116Arg
|
3.0 |
|
B | ||
| 2743 | chr2 | 108763894 | C | T |
c.3355C>T
|
p.Gln1119Ter
|
- | 4.0 |
|
B | |
| 5791 | chr2 | 108764231 | G | A |
c.3692G>A
|
p.Arg1231His
|
- | 3.0 |
|
B | |
| 16068 | chr2 | 108764245 | C | T |
c.3706C>T
|
p.Arg1236Ter
|
- | 4.0 |
|
B | |
| 7216 | chr2 | 108764688 | A | T |
c.4149A>T
|
p.Lys1383Asn
|
- | 3.0 |
|
B | |
| 16693 | chr2 | 108764719 | GT | G |
c.4185del
|
p.Phe1395LeufsTer17
|
- | 4.0 |
|
B | |
| 27509 | chr2 | 108764758 | C | T |
c.4219C>T
|
p.Arg1407Ter
|
- | 4.0 |
|
B | |
| 7623 | chr2 | 108765028 | A | C |
c.4489A>C
|
p.Thr1497Pro
|
- | 3.0 |
|
B | |
| 24053 | chr2 | 108765041 | C | T |
c.4502C>T
|
p.Ala1501Val
|
3.0 |
|
B | ||
| 9605 | chr2 | 108765205 | A | G |
c.4666A>G
|
p.Asn1556Asp
|
- | 3.0 |
|
B | |
| 16570 | chr2 | 108765340 | G | A |
c.4801G>A
|
p.Gly1601Arg
|
- | 3.0 |
|
B | |
| 34424 | chr2 | 108765850 | C | T |
c.5311C>T
|
p.Pro1771Ser
|
3.0 |
|
B | ||
| 13362 | chr2 | 108766017 | A | C |
c.5478A>C
|
p.Glu1826Asp
|
- | 3.0 |
|
B |