Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 20267 | chr1 | 85270827 | AT | A |
c.136del
|
p.Ile46TyrfsTer24
|
4.5 |
|
B | ||
| 4622 | chr1 | 86125649 | T | A |
c.687A>T
|
p.Glu229Asp
|
- | 3.0 |
|
B | |
| 12699 | chr1 | 88983825 | AT | A |
c.99+4426del
c.1del
|
-
p.Met1?
|
3.0 |
|
B | ||
| 11261 | chr1 | 89007758 | GT | G |
c.1753del
|
p.Thr585ProfsTer9
|
3.0 |
|
B | ||
| 3371 | chr1 | 90941053 | G | A |
c.301C>T
|
p.Pro101Ser
|
- | 3.0 |
|
B | |
| 3378 | chr1 | 91375537 | G | A |
c.1586C>T
|
p.Pro529Leu
|
- | 3.0 |
|
B | |
| 10446 | chr1 | 91501799 | TA | T |
c.92del
|
p.Asn31ThrfsTer51
|
3.0 |
|
B | ||
| 3097 | chr1 | 92833623 | T | G |
c.152T>G
|
p.Met51Arg
|
- | 4.0 |
|
B | |
| 26862 | chr1 | 92833631 | C | A |
c.160C>A
|
p.Arg54Ser
|
- | 3.0 |
|
B | |
| 2196 | chr1 | 92833636 | GACAA | G |
c.169_172del
|
p.Asn57GlufsTer12
|
4.0 |
|
B | ||
| 28282 | chr1 | 92833648 | T | G |
c.177T>G
|
p.Asp59Glu
|
- | 3.0 |
|
B | |
| 8595 | chr1 | 92834881 | G | C |
c.292G>C
|
p.Ala98Pro
|
- | 4.0 |
|
B | |
| 97 | chr1 | 92834911 | A | G |
c.322A>G
|
p.Arg108Gly
|
- | 4.33 |
|
A | |
| 8241 | chr1 | 92836189 | G | C |
c.325-1G>C
|
p.?
|
- | 4.0 |
|
B | |
| 23679 | chr1 | 92836215 | AG | A |
c.351del
|
p.Ile118SerfsTer8
|
- | 4.0 |
|
B | |
| 24961 | chr1 | 92836223 | G | T |
c.358G>T
|
p.Glu120Ter
|
- | 4.0 |
|
B | |
| 25691 | chr1 | 92836225 | AGGCCAAGTGGAG | A |
c.362_373del
|
p.Gly121_Glu124del
|
- | 3.0 |
|
B | |
| 21979 | chr1 | 92836331 | G | A |
c.466G>A
|
p.Gly156Ser
|
- | 3.0 |
|
B | |
| 26298 | chr1 | 92837524 | T | G |
-
c.596T>G
|
-
p.Ile199Ser
|
- | 3.0 |
|
B | |
| 18921 | chr1 | 92837551 | T | TG |
-
c.624dup
|
-
p.Arg209AlafsTer8
|
- | 4.0 |
|
B |