Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 35131 | chr6 | 55874552 | A | T |
c.314T>A
|
p.Leu105Ter
|
- | 3.0 |
|
B | |
| 33045 | chr6 | 55874646 | C | T |
c.220G>A
|
p.Ala74Thr
|
3.0 |
|
B | ||
| 28901 | chr6 | 55874667 | G | A |
c.199C>T
|
p.Pro67Ser
|
- | 3.0 |
|
B | |
| 20955 | chr6 | 55874718 | C | T |
c.148G>A
|
p.Glu50Lys
|
3.0 |
|
B | ||
| 17149 | chr6 | 55874720 | C | T |
c.146G>A
|
p.Arg49Gln
|
3.0 |
|
B | ||
| 32716 | chr6 | 55874721 | G | A |
c.145C>T
|
p.Arg49Trp
|
3.0 |
|
B | ||
| 20956 | chr6 | 55874727 | C | T |
c.139G>A
|
p.Glu47Lys
|
3.0 |
|
B | ||
| 16734 | chr6 | 55874844 | G | A |
c.22C>T
|
p.Leu8Phe
|
- | 3.0 |
|
B | |
| 19154 | chr6 | 55874863 | C | A |
c.3G>T
|
p.Met1?
|
- | 3.0 |
|
B | |
| 3513 | chr6 | 57172810 | G | C |
-
c.113G>C
|
-
p.Arg38Thr
|
- | 3.0 |
|
B | |
| 3514 | chr6 | 57172811 | G | C |
-
c.113+1G>C
|
-
p.?
|
- | 3.0 |
|
B | |
| 4675 | chr6 | 65295880 | C | T |
c.2006G>A
|
p.Cys669Tyr
|
- | 3.0 |
|
B | |
| 3576 | chr6 | 70035905 | G | A |
c.1136G>A
|
p.Gly379Glu
|
- | 3.0 |
|
B | |
| 3646 | chr6 | 70207159 | C | T |
c.3314C>T
|
p.Pro1105Leu
|
- | 3.0 |
|
B | |
| 12950 | chr6 | 70798666 | GA | G |
c.515del
|
p.Lys172ArgfsTer48
|
3.0 |
|
B | ||
| 20221 | chr6 | 70861991 | TA | T |
c.*1669del
c.737-14del
|
-
-
|
3.0 |
|
B | ||
| 4495 | chr6 | 70956283 | G | A |
c.147C>T
|
p.Gly49=
|
1.0 |
|
B | ||
| 33162 | chr6 | 73492286 | G | C |
c.1690G>C
|
p.Ala564Pro
|
- | 3.0 |
|
B | |
| 11911 | chr6 | 73517904 | G | A |
c.1295C>T
|
p.Thr432Ile
|
- | 3.0 |
|
B | |
| 3090 | chr6 | 73517939 | TA | T |
c.1265-6del
|
-
|
3.0 |
|
B |