Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 20373 | chr11 | 64806018 | GA | G |
-
c.1049+213del
|
-
-
|
3.0 |
|
B | ||
| 4031 | chr11 | 64806236 | G | A |
-
c.1045C>T
|
-
p.Gln349Ter
|
- | 4.0 |
|
B | |
| 15678 | chr11 | 64807006 | C | T |
-
c.912+5G>A
|
-
-
|
3.0 |
|
B | ||
| 29100 | chr11 | 64807578 | A | G |
-
c.757T>C
|
-
p.Ser253Pro
|
- | 3.5 |
|
B | |
| 26430 | chr11 | 64807608 | TG | T |
-
c.726del
|
-
p.Ile243SerfsTer38
|
- | 4.0 |
|
B | |
| 18832 | chr11 | 64807661 | C | A |
-
c.674G>T
|
-
p.Gly225Val
|
- | 3.0 |
|
B | |
| 20374 | chr11 | 64807872 | TG | T |
-
c.654+18del
|
-
-
|
2.0 |
|
B | ||
| 6501 | chr11 | 64807895 | T | C |
-
c.650A>G
|
-
p.Glu217Gly
|
- | 3.0 |
|
B | |
| 16409 | chr11 | 64807913 | ACTGT | A |
-
c.628_631del
|
-
p.Thr210SerfsTer13
|
4.5 |
|
B | ||
| 9592 | chr11 | 64807919 | T | C |
-
c.626A>G
|
-
p.Gln209Arg
|
- | 3.0 |
|
B | |
| 31158 | chr11 | 64808119 | T | G |
-
c.446-20A>C
|
-
-
|
- | 2.5 |
|
B | |
| 8702 | chr11 | 64809682 | AG | A |
c.427del
|
p.Leu143SerfsTer42
|
- | 4.0 |
|
B | |
| 20610 | chr11 | 64809714 | G | C |
c.396C>G
|
p.Ser132=
|
- | 3.0 |
|
B | |
| 426 | chr11 | 64809732 | C | T |
c.378G>A
|
p.Trp126Ter
|
4.67 |
|
A | ||
| 18801 | chr11 | 64809790 | G | T |
c.320C>A
|
p.Pro107His
|
- | 3.0 |
|
B | |
| 25832 | chr11 | 64809806 | C | G |
c.304G>C
|
p.Asp102His
|
- | 3.0 |
|
B | |
| 31584 | chr11 | 64809846 | G | C |
c.264C>G
|
p.Ala88=
|
- | 2.5 |
|
B | |
| 15384 | chr11 | 64809857 | TAGAC | T |
c.249_252del
|
p.Ile85SerfsTer33
|
4.5 |
|
B | ||
| 6375 | chr11 | 64809888 | GC | G |
c.221del
|
p.Gly74AlafsTer45
|
- | 4.0 |
|
B | |
| 8267 | chr11 | 64809902 | C | T |
c.208G>A
|
p.Asp70Asn
|
3.0 |
|
B |