Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 9897 | chr6 | 29945520 | G | T |
c.*65G>T
|
-
|
- | 3.0 |
|
B | |
| 15261 | chr6 | 30006785 | C | A |
n.1346+438G>T
|
-
|
3.0 |
|
B | ||
| 27466 | chr6 | 30700502 | G | T |
c.6233C>A
|
p.Ala2078Asp
|
- | 3.0 |
|
B | |
| 24643 | chr6 | 30700605 | G | A |
c.6130C>T
|
p.Gln2044Ter
|
3.0 |
|
B | ||
| 1355 | chr6 | 30702564 | G | A |
c.6091C>T
|
p.Arg2031Trp
|
3.0 |
|
B | ||
| 27141 | chr6 | 30702606 | T | A |
c.6049A>T
|
p.Ile2017Phe
|
- | 3.0 |
|
B | |
| 3062 | chr6 | 30702621 | G | A |
c.6034C>T
|
p.Pro2012Ser
|
- | 3.0 |
|
B | |
| 10306 | chr6 | 30702769 | C | T |
c.5974G>A
|
p.Glu1992Lys
|
- | 3.0 |
|
B | |
| 19268 | chr6 | 30702853 | G | A |
c.5890C>T
|
p.Pro1964Ser
|
3.0 |
|
B | ||
| 34014 | chr6 | 30703399 | C | T |
c.5682+19G>A
|
-
|
- | 3.0 |
|
B | |
| 13482 | chr6 | 30703452 | C | T |
c.5648G>A
|
p.Arg1883Gln
|
1.5 |
|
B | ||
| 25477 | chr6 | 30703477 | T | A |
c.5623A>T
|
p.Arg1875Ter
|
- | 3.0 |
|
B | |
| 13749 | chr6 | 30703611 | C | T |
c.5562+10G>A
|
-
|
3.0 |
|
B | ||
| 33647 | chr6 | 30703685 | G | A |
c.5498C>T
|
p.Ser1833Phe
|
- | 3.0 |
|
B | |
| 21423 | chr6 | 30703758 | G | C |
c.5425C>G
|
p.Gln1809Glu
|
- | 3.0 |
|
B | |
| 30602 | chr6 | 30703871 | G | A |
c.5312C>T
|
p.Pro1771Leu
|
- | 3.0 |
|
B | |
| 3121 | chr6 | 30703900 | C | T |
c.5283G>A
|
p.Val1761=
|
- | 3.0 |
|
B | |
| 30182 | chr6 | 30704051 | G | A |
c.5132C>T
|
p.Ser1711Phe
|
- | 3.0 |
|
B | |
| 4694 | chr6 | 30704246 | G | A |
c.4937C>T
|
p.Ser1646Phe
|
- | 3.0 |
|
B | |
| 12340 | chr6 | 30704323 | A | C |
c.4860T>G
|
p.His1620Gln
|
3.0 |
|
B |