Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 20223 | chr6 | 106087937 | CTTT | C |
c.43-253_43-251del
|
-
|
- | 3.0 |
|
B | |
| 33672 | chr6 | 106087941 | T | TG |
c.43-260_43-259insG
|
-
|
- | 3.0 |
|
B | |
| 6661 | chr6 | 106095645 | C | T |
c.322C>T
|
p.Pro108Ser
|
3.0 |
|
B | ||
| 6194 | chr6 | 106095740 | T | G |
c.411+6T>G
|
-
|
- | 3.0 |
|
B | |
| 25696 | chr6 | 106099360 | T | A |
c.472T>A
|
p.Trp158Arg
|
- | 3.0 |
|
B | |
| 33018 | chr6 | 106099393 | C | T |
c.505C>T
|
p.Arg169Trp
|
3.0 |
|
B | ||
| 16035 | chr6 | 106099509 | G | GCTT |
c.623_625dup
|
p.Leu208dup
|
- | 3.0 |
|
B | |
| 16036 | chr6 | 106099515 | C | G |
c.627C>G
|
p.His209Gln
|
- | 3.0 |
|
B | |
| 2888 | chr6 | 106099552 | A | C |
c.664A>C
|
p.Thr222Pro
|
- | 3.0 |
|
B | |
| 1344 | chr6 | 106104908 | G | A |
c.748G>A
|
p.Val250Met
|
3.0 |
|
B | ||
| 18719 | chr6 | 106104914 | G | C |
c.754G>C
|
p.Glu252Gln
|
- | 3.0 |
|
B | |
| 10089 | chr6 | 106105115 | G | A |
c.955G>A
|
p.Glu319Lys
|
- | 3.0 |
|
B | |
| 4319 | chr6 | 106105536 | C | T |
c.1376C>T
|
p.Pro459Leu
|
3.0 |
|
B | ||
| 29155 | chr6 | 106105581 | G | A |
c.1421G>A
|
p.Gly474Glu
|
- | 3.0 |
|
B | |
| 7146 | chr6 | 106105664 | G | A |
c.1504G>A
|
p.Ala502Thr
|
3.0 |
|
B | ||
| 3122 | chr6 | 106105675 | G | A |
c.1515G>A
|
p.Met505Ile
|
- | 3.0 |
|
B | |
| 4272 | chr6 | 106105895 | G | A |
c.1735G>A
|
p.Val579Ile
|
- | 3.0 |
|
B | |
| 16204 | chr6 | 106106960 | G | A |
c.1952G>A
|
p.Arg651Gln
|
3.0 |
|
B | ||
| 7396 | chr6 | 106107090 | G | T |
c.2082G>T
|
p.Lys694Asn
|
- | 3.0 |
|
B | |
| 11559 | chr6 | 106107332 | C | T |
c.2324C>T
|
p.Ser775Phe
|
- | 3.0 |
|
B |