Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 22024 | chr6 | 93254765 | G | T |
c.2414C>A
|
p.Pro805His
|
3.0 |
|
B | ||
| 1077 | chr6 | 93254792 | C | G |
c.2387G>C
|
p.Gly796Ala
|
- | 3.0 |
|
B | |
| 21188 | chr6 | 93254792 | C | T |
c.2387G>A
|
p.Gly796Glu
|
3.0 |
|
B | ||
| 7887 | chr6 | 93254796 | C | A |
c.2383G>T
|
p.Gly795Cys
|
- | 3.0 |
|
B | |
| 1831 | chr6 | 93254803 | T | TA |
c.2383-8dup
|
-
|
- | 3.0 |
|
B | |
| 11589 | chr6 | 93254814 | G | T |
c.2383-18C>A
|
-
|
- | 3.0 |
|
B | |
| 28863 | chr6 | 93255817 | C | A |
c.2382+11G>T
|
-
|
- | 3.0 |
|
B | |
| 32862 | chr6 | 93255851 | G | A |
c.2359C>T
|
p.Pro787Ser
|
3.0 |
|
B | ||
| 24555 | chr6 | 93256010 | G | A |
c.2200C>T
|
p.Gln734Ter
|
- | 3.5 |
|
B | |
| 9423 | chr6 | 93256028 | C | A |
c.2182G>T
|
p.Gly728Trp
|
- | 3.0 |
|
B | |
| 20873 | chr6 | 93257454 | G | T |
c.2172+8C>A
|
-
|
- | 3.0 |
|
B | |
| 14729 | chr6 | 93257531 | T | TA |
c.2111-9dup
|
-
|
3.0 |
|
B | ||
| 31459 | chr6 | 93257531 | TA | T |
c.2111-9del
|
-
|
3.0 |
|
B | ||
| 23471 | chr6 | 93258233 | T | A |
c.1976A>T
|
p.Asp659Val
|
- | 3.0 |
|
B | |
| 939 | chr6 | 93258236 | C | T |
c.1973G>A
|
p.Arg658Lys
|
3.0 |
|
B | ||
| 12271 | chr6 | 93258282 | C | T |
c.1927G>A
|
p.Glu643Lys
|
- | 3.0 |
|
B | |
| 17292 | chr6 | 93259334 | G | A |
c.1924+20C>T
|
-
|
3.0 |
|
B | ||
| 27922 | chr6 | 93259369 | G | A |
c.1909C>T
|
p.Arg637Cys
|
3.0 |
|
B | ||
| 33179 | chr6 | 93259389 | G | A |
c.1889C>T
|
p.Ala630Val
|
- | 3.0 |
|
B | |
| 586 | chr6 | 93259393 | C | G |
c.1885G>C
|
p.Asp629His
|
- | 3.0 |
|
B |