Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 13335 | chr6 | 149679930 | G | T |
c.2538C>A
|
p.Asp846Glu
|
- | 3.0 |
|
B | |
| 11675 | chr6 | 149680017 | TTC | T |
c.2449_2450del
|
p.Glu817LysfsTer4
|
- | 4.0 |
|
B | |
| 34312 | chr6 | 149680051 | C | T |
c.2417G>A
|
p.Arg806Gln
|
3.0 |
|
B | ||
| 13364 | chr6 | 149680122 | C | T |
c.2346G>A
|
p.Met782Ile
|
- | 3.0 |
|
B | |
| 25250 | chr6 | 149680268 | T | C |
c.2200A>G
|
p.Lys734Glu
|
- | 3.0 |
|
B | |
| 27614 | chr6 | 149680363 | T | A |
c.2105A>T
|
p.Lys702Met
|
- | 3.0 |
|
B | |
| 2671 | chr6 | 149680387 | C | T |
c.2081G>A
|
p.Arg694His
|
3.0 |
|
B | ||
| 295 | chr6 | 149683078 | C | T |
c.2010+1G>A
|
p.?
|
- | 4.33 |
|
A | |
| 25763 | chr6 | 149683375 | G | A |
c.1714C>T
|
p.Pro572Ser
|
3.0 |
|
B | ||
| 6046 | chr6 | 149683479 | G | A |
c.1610C>T
|
p.Ala537Val
|
- | 3.0 |
|
B | |
| 2091 | chr6 | 149683584 | C | T |
c.1505G>A
|
p.Arg502His
|
3.0 |
|
B | ||
| 11683 | chr6 | 149683642 | C | T |
c.1447G>A
|
p.Ala483Thr
|
3.0 |
|
B | ||
| 15435 | chr6 | 149683915 | C | T |
c.1174G>A
|
p.Gly392Arg
|
- | 3.0 |
|
B | |
| 24751 | chr6 | 149683981 | G | A |
c.1108C>T
|
p.Arg370Trp
|
3.0 |
|
B | ||
| 23695 | chr6 | 149684229 | C | T |
c.860G>A
|
p.Arg287Gln
|
3.0 |
|
B | ||
| 11976 | chr6 | 149695064 | G | C |
c.496+10C>G
|
-
|
- | 3.0 |
|
B | |
| 4531 | chr6 | 149695128 | G | A |
c.442C>T
|
p.Arg148Ter
|
- | 4.0 |
|
B | |
| 7584 | chr6 | 149695130 | C | T |
c.440G>A
|
p.Arg147Gln
|
3.0 |
|
B | ||
| 1197 | chr6 | 149701872 | CAG | C |
c.253_254del
|
p.Leu85AlafsTer6
|
- | 3.5 |
|
B | |
| 9469 | chr6 | 149702017 | G | A |
c.110C>T
|
p.Ser37Phe
|
- | 3.0 |
|
B |