Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 3397 | chr6 | 25916807 | C | T |
c.808G>A
|
p.Val270Ile
|
- | 3.0 |
|
B | |
| 6719 | chr6 | 26020655 | CAG | C |
-
c.168_169del
-
|
-
p.Lys57ValfsTer3
-
|
- | 3.0 |
|
B | |
| 34955 | chr6 | 26026997 | C | T |
-
c.256G>A
-
|
-
p.Asp86Asn
-
|
3.0 |
|
B | ||
| 2041 | chr6 | 26031642 | C | G |
c.*8G>C
-
-
|
-
-
-
|
3.0 |
|
B | ||
| 25476 | chr6 | 26031710 | T | C |
c.351A>G
-
-
|
p.Arg117=
-
-
|
3.0 |
|
B | ||
| 3883 | chr6 | 26031713 | C | G |
c.348G>C
-
-
|
p.Lys116Asn
-
-
|
3.0 |
|
B | ||
| 10275 | chr6 | 26031745 | C | A |
c.316G>T
-
-
|
p.Glu106Ter
-
-
|
- | 3.0 |
|
B | |
| 24891 | chr6 | 26031745 | C | G |
c.316G>C
-
-
|
p.Glu106Gln
-
-
|
- | 3.0 |
|
B | |
| 34731 | chr6 | 26031745 | C | T |
c.316G>A
-
-
|
p.Glu106Lys
-
-
|
- | 3.0 |
|
B | |
| 30309 | chr6 | 26031770 | A | T |
c.291T>A
-
-
|
p.Cys97Ter
-
-
|
- | 3.0 |
|
B | |
| 16729 | chr6 | 26031787 | C | T |
c.274G>A
-
-
|
p.Ala92Thr
-
-
|
- | 3.0 |
|
B | |
| 10376 | chr6 | 26031817 | C | A |
c.244G>T
-
-
|
p.Asp82Tyr
-
-
|
- | 3.0 |
|
B | |
| 12328 | chr6 | 26031820 | T | C |
c.241A>G
-
-
|
p.Thr81Ala
-
-
|
3.0 |
|
B | ||
| 27945 | chr6 | 26031821 | C | CT |
c.239dup
-
-
|
p.Thr81AspfsTer18
-
-
|
- | 3.0 |
|
B | |
| 4247 | chr6 | 26031838 | T | A |
c.223A>T
-
-
|
p.Ile75Phe
-
-
|
- | 3.0 |
|
B | |
| 13971 | chr6 | 26031841 | C | G |
c.220G>C
-
-
|
p.Glu74Gln
-
-
|
3.0 |
|
B | ||
| 20574 | chr6 | 26031845 | C | T |
c.216G>A
-
-
|
p.Val72=
-
-
|
3.0 |
|
B | ||
| 9994 | chr6 | 26031904 | G | A |
c.157C>T
-
-
|
p.Arg53Cys
-
-
|
3.0 |
|
B | ||
| 4693 | chr6 | 26031908 | C | G |
c.153G>C
-
-
|
p.Glu51Asp
-
-
|
- | 3.0 |
|
B | |
| 10276 | chr6 | 26031929 | CG | C |
c.131del
-
-
|
p.Pro44ArgfsTer19
-
-
|
- | 3.0 |
|
B |