Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 30207 | chr20 | 41174003 | C | T |
c.3637C>T
-
|
p.Pro1213Ser
-
|
- | 3.0 |
|
B | |
| 20915 | chr20 | 41174025 | G | A |
c.3645+14G>A
-
|
-
-
|
3.0 |
|
B | ||
| 6382 | chr20 | 42081955 | TG | T |
c.4198del
|
p.Gln1400SerfsTer11
|
- | 4.0 |
|
B | |
| 24590 | chr20 | 42084703 | C | T |
c.4115G>A
|
p.Gly1372Glu
|
- | 3.0 |
|
B | |
| 10012 | chr20 | 42084726 | C | A |
c.4092G>T
|
p.Gln1364His
|
- | 3.0 |
|
B | |
| 15852 | chr20 | 42084746 | G | A |
c.4072C>T
|
p.Arg1358Ter
|
- | 4.0 |
|
B | |
| 24489 | chr20 | 42084785 | C | T |
c.4033G>A
|
p.Asp1345Asn
|
- | 3.0 |
|
B | |
| 1343 | chr20 | 42085748 | G | A |
c.3952C>T
|
p.Arg1318Cys
|
3.0 |
|
B | ||
| 17422 | chr20 | 42085834 | G | A |
c.3866C>T
|
p.Pro1289Leu
|
- | 3.0 |
|
B | |
| 22407 | chr20 | 42085864 | G | A |
c.3847-11C>T
|
-
|
- | 3.0 |
|
B | |
| 4970 | chr20 | 42098416 | C | T |
c.3846+5G>A
|
-
|
- | 3.0 |
|
B | |
| 5036 | chr20 | 42098471 | C | T |
c.3796G>A
|
p.Asp1266Asn
|
3.0 |
|
B | ||
| 35664 | chr20 | 42098492 | C | T |
c.3775G>A
|
p.Asp1259Asn
|
- | 3.0 |
|
B | |
| 10663 | chr20 | 42098500 | G | A |
c.3767C>T
|
p.Thr1256Ile
|
- | 3.0 |
|
B | |
| 17537 | chr20 | 42098528 | C | T |
c.3739G>A
|
p.Val1247Met
|
3.0 |
|
B | ||
| 2154 | chr20 | 42098554 | T | A |
c.3715-2A>T
|
p.?
|
- | 4.0 |
|
B | |
| 14807 | chr20 | 42098566 | G | A |
c.3715-14C>T
|
-
|
- | 3.5 |
|
B | |
| 23604 | chr20 | 42102110 | C | T |
c.3714+14G>A
|
-
|
3.0 |
|
B | ||
| 28652 | chr20 | 42102192 | G | A |
c.3646C>T
|
p.Arg1216Cys
|
3.0 |
|
B | ||
| 27891 | chr20 | 42102228 | C | T |
c.3610G>A
|
p.Asp1204Asn
|
- | 3.0 |
|
B |