Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 33056 | chr2 | 21009457 | C | T |
c.7411G>A
|
p.Glu2471Lys
|
- | 3.0 |
|
B | |
| 31240 | chr2 | 21009511 | C | T |
c.7357G>A
|
p.Glu2453Lys
|
- | 3.0 |
|
B | |
| 29966 | chr2 | 21009665 | G | GAC |
c.7201_7202dup
|
p.Lys2402SerfsTer23
|
- | 3.0 |
|
B | |
| 32964 | chr2 | 21010054 | G | C |
c.6814C>G
|
p.His2272Asp
|
- | 3.0 |
|
B | |
| 12626 | chr2 | 21010300 | C | T |
c.6568G>A
|
p.Asp2190Asn
|
- | 3.0 |
|
B | |
| 18824 | chr2 | 21010351 | G | C |
c.6517C>G
|
p.Gln2173Glu
|
3.0 |
|
B | ||
| 24494 | chr2 | 21010358 | T | G |
c.6510A>C
|
p.Lys2170Asn
|
- | 3.0 |
|
B | |
| 27961 | chr2 | 21010424 | C | A |
c.6444G>T
|
p.Lys2148Asn
|
- | 3.0 |
|
B | |
| 27577 | chr2 | 21010424 | CT | C |
c.6443del
|
p.Lys2148SerfsTer13
|
3.0 |
|
B | ||
| 32737 | chr2 | 21010522 | C | T |
c.6346G>A
|
p.Gly2116Arg
|
- | 3.0 |
|
B | |
| 28261 | chr2 | 21010585 | C | T |
c.6283G>A
|
p.Val2095Ile
|
2.5 |
|
B | ||
| 14884 | chr2 | 21010614 | C | T |
c.6254G>A
|
p.Arg2085Gln
|
2.5 |
|
B | ||
| 20831 | chr2 | 21010833 | C | T |
c.6035G>A
|
p.Arg2012Gln
|
2.0 |
|
B | ||
| 29598 | chr2 | 21010975 | C | T |
c.5893G>A
|
p.Glu1965Lys
|
3.0 |
|
B | ||
| 14556 | chr2 | 21011092 | G | T |
c.5776C>A
|
p.Gln1926Lys
|
3.0 |
|
B | ||
| 15508 | chr2 | 21011308 | C | T |
c.5560G>A
|
p.Asp1854Asn
|
2.5 |
|
B | ||
| 31347 | chr2 | 21011758 | C | T |
c.5110G>A
|
p.Ala1704Thr
|
2.0 |
|
B | ||
| 30810 | chr2 | 21011822 | C | T |
c.5046G>A
|
p.Met1682Ile
|
3.0 |
|
B | ||
| 26170 | chr2 | 21011849 | TGCATTCAGCTCATTCTCCAGCACCA | T |
c.4994_5018del
|
p.Leu1665GlnfsTer10
|
- | 3.0 |
|
B | |
| 33976 | chr2 | 21012060 | T | A |
c.4808A>T
|
p.Gln1603Leu
|
3.0 |
|
B |