Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 22072 | chr1 | 68439269 | G | C |
c.780C>G
|
p.Asn260Lys
|
- | 3.0 |
|
B | |
| 16283 | chr1 | 68440879 | A | G |
c.617T>C
|
p.Ile206Thr
|
3.0 |
|
B | ||
| 14082 | chr1 | 68440893 | TG | T |
c.602del
|
p.Ser201Ter
|
- | 3.0 |
|
B | |
| 21777 | chr1 | 68440899 | A | T |
c.597T>A
|
p.Asn199Lys
|
3.0 |
|
B | ||
| 25353 | chr1 | 68440931 | C | T |
c.565G>A
|
p.Val189Ile
|
3.0 |
|
B | ||
| 33665 | chr1 | 68444557 | G | C |
c.469C>G
|
p.Pro157Ala
|
- | 3.0 |
|
B | |
| 29752 | chr1 | 68444604 | TC | T |
c.421del
|
p.Glu141LysfsTer67
|
- | 3.0 |
|
B | |
| 4039 | chr1 | 68446804 | C | T |
c.151G>A
|
p.Glu51Lys
|
- | 3.0 |
|
B | |
| 24679 | chr1 | 68446825 | G | A |
c.130C>T
|
p.Arg44Ter
|
3.0 |
|
B | ||
| 12697 | chr1 | 68448647 | G | A |
c.71C>T
|
p.Ser24Leu
|
3.0 |
|
B | ||
| 24032 | chr1 | 68449894 | C | A |
c.11+1G>T
|
p.?
|
- | 3.0 |
|
B | |
| 12781 | chr1 | 71407446 | T | A |
c.1065A>T
|
p.Ter355TyrextTer9
|
- | 3.0 |
|
B | |
| 28678 | chr1 | 71407584 | G | A |
c.941-14C>T
|
-
|
3.0 |
|
B | ||
| 15535 | chr1 | 71592898 | C | T |
c.859G>A
|
p.Val287Met
|
3.0 |
|
B | ||
| 19941 | chr1 | 71611024 | ACTT | A |
c.787_788+1del
|
p.?
|
3.0 |
|
B | ||
| 26297 | chr1 | 71611033 | C | T |
c.781G>A
|
p.Glu261Lys
|
- | 3.0 |
|
B | |
| 34994 | chr1 | 71611083 | C | T |
c.731G>A
|
p.Arg244Lys
|
- | 3.0 |
|
B | |
| 30782 | chr1 | 71611094 | A | T |
c.720T>A
|
p.Ser240Arg
|
- | 3.0 |
|
B | |
| 12380 | chr1 | 71611155 | GAAAC | G |
c.668-13_668-10del
|
-
|
3.0 |
|
B | ||
| 12246 | chr1 | 71698006 | AC | A |
c.667+1del
|
p.?
|
- | 3.0 |
|
B |