Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 12647 | chr22 | 29654655 | AGTAT | A |
c.448_451del
|
p.Tyr150ValfsTer23
|
- | 4.0 |
|
B | |
| 3909 | chr22 | 29654656 | G | A |
c.448-1G>A
|
p.?
|
- | 5.0 |
|
B | |
| 24856 | chr22 | 29654656 | G | T |
c.448-1G>T
|
p.?
|
- | 4.0 |
|
B | |
| 30024 | chr22 | 29654661 | G | A |
c.452G>A
|
p.Gly151Asp
|
- | 3.0 |
|
B | |
| 32609 | chr22 | 29654667 | A | ACGACCCCAGTGTTCACAAG |
c.461_479dup
|
p.Gly161ProfsTer48
|
4.5 |
|
B | ||
| 32648 | chr22 | 29654668 | C | G |
c.459C>G
|
p.Tyr153Ter
|
- | 4.0 |
|
B | |
| 24979 | chr22 | 29654668 | CG | C |
c.460del
|
p.Asp154ThrfsTer20
|
- | 4.0 |
|
B | |
| 5984 | chr22 | 29654688 | G | A |
c.479G>A
|
p.Arg160Gln
|
3.0 |
|
B | ||
| 34952 | chr22 | 29654691 | GA | G |
c.483del
|
p.Leu163TrpfsTer11
|
- | 4.0 |
|
B | |
| 12052 | chr22 | 29655595 | TA | T |
c.520del
|
p.Ile174Ter
|
- | 4.0 |
|
B | |
| 32612 | chr22 | 29655617 | TC | T |
c.542del
|
p.Pro181ArgfsTer28
|
- | 4.0 |
|
B | |
| 8225 | chr22 | 29655627 | T | C |
c.550T>C
|
p.Trp184Arg
|
- | 3.0 |
|
B | |
| 15894 | chr22 | 29655629 | G | A |
c.552G>A
|
p.Trp184Ter
|
- | 4.0 |
|
B | |
| 27042 | chr22 | 29655649 | G | A |
c.572G>A
|
p.Trp191Ter
|
- | 4.0 |
|
B | |
| 5374 | chr22 | 29655663 | C | T |
c.586C>T
|
p.Arg196Ter
|
4.5 |
|
B | ||
| 7335 | chr22 | 29655677 | G | A |
c.599+1G>A
|
p.?
|
- | 4.5 |
|
B | |
| 768 | chr22 | 29655678 | T | G |
c.599+2T>G
|
p.?
|
- | 4.5 |
|
B | |
| 10752 | chr22 | 29655696 | G | A |
c.599+20G>A
|
-
|
- | 2.5 |
|
B | |
| 25785 | chr22 | 29658203 | T | A |
c.614T>A
|
p.Met205Lys
|
- | 3.0 |
|
B | |
| 659 | chr22 | 29658206 | AAT | A |
c.620_621del
|
p.Tyr207SerfsTer20
|
- | 4.0 |
|
B |