Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 8886 | chr1 | 158638118 | C | A |
c.5104G>T
|
p.Ala1702Ser
|
- | 3.0 |
|
B | |
| 10960 | chr1 | 158638145 | T | G |
c.5077A>C
|
p.Lys1693Gln
|
1.0 |
|
B | ||
| 1090 | chr1 | 158638147 | T | A |
c.5075A>T
|
p.Asn1692Ile
|
- | 3.0 |
|
B | |
| 27454 | chr1 | 158638178 | C | T |
c.5044G>A
|
p.Asp1682Asn
|
3.0 |
|
B | ||
| 1757 | chr1 | 158638211 | C | T |
c.5011G>A
|
p.Glu1671Lys
|
- | 3.0 |
|
B | |
| 16414 | chr1 | 158638243 | T | C |
c.4981-2A>G
|
p.?
|
- | 3.0 |
|
B | |
| 23301 | chr1 | 158638254 | G | C |
c.4981-13C>G
|
-
|
- | 3.0 |
|
B | |
| 16567 | chr1 | 158638255 | G | A |
c.4981-14C>T
|
-
|
- | 3.0 |
|
B | |
| 25011 | chr1 | 158639653 | T | A |
c.4909A>T
|
p.Arg1637Trp
|
- | 3.0 |
|
B | |
| 17562 | chr1 | 158639858 | G | A |
c.4875+12C>T
|
-
|
1.5 |
|
B | ||
| 27308 | chr1 | 158639887 | CA | C |
c.4857del
|
p.Phe1619LeufsTer14
|
- | 3.0 |
|
B | |
| 1637 | chr1 | 158639895 | C | T |
c.4850G>A
|
p.Arg1617Gln
|
2.5 |
|
B | ||
| 21907 | chr1 | 158639907 | T | G |
c.4838A>C
|
p.Asn1613Thr
|
- | 3.0 |
|
B | |
| 25280 | chr1 | 158639913 | C | T |
c.4832G>A
|
p.Arg1611Lys
|
- | 3.0 |
|
B | |
| 34246 | chr1 | 158639918 | T | G |
c.4827A>C
|
p.Gln1609His
|
- | 3.0 |
|
B | |
| 17194 | chr1 | 158639946 | C | T |
c.4799G>A
|
p.Gly1600Glu
|
- | 3.0 |
|
B | |
| 6960 | chr1 | 158639960 | T | G |
c.4785A>C
|
p.Arg1595Ser
|
- | 3.0 |
|
B | |
| 20653 | chr1 | 158639971 | G | T |
c.4774C>A
|
p.Leu1592Met
|
- | 3.0 |
|
B | |
| 15390 | chr1 | 158642401 | T | G |
c.4737+10A>C
|
-
|
- | 3.0 |
|
B | |
| 10220 | chr1 | 158642476 | C | T |
c.4672G>A
|
p.Val1558Ile
|
3.0 |
|
B |