Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 33068 | chr5 | 112840060 | T | G |
c.4466T>G
|
p.Leu1489Ter
|
4.0 |
|
B | ||
| 28117 | chr5 | 112840060 | T | TAC |
c.4468_4469dup
|
p.Phe1491IlefsTer17
|
- | 4.0 |
|
B | |
| 27401 | chr5 | 112840063 | AT | A |
c.4473del
|
p.Phe1491LeufsTer16
|
- | 4.5 |
|
B | |
| 21951 | chr5 | 112840068 | GC | G |
c.4476del
|
p.Thr1493ArgfsTer14
|
- | 4.5 |
|
B | |
| 20853 | chr5 | 112840080 | AC | A |
c.4487del
|
p.Thr1496IlefsTer11
|
- | 4.0 |
|
B | |
| 29780 | chr5 | 112840091 | AT | A |
c.4501del
|
p.Ser1501LeufsTer6
|
4.5 |
|
B | ||
| 6759 | chr5 | 112840117 | C | T |
c.4523C>T
|
p.Ala1508Val
|
- | 3.0 |
|
B | |
| 286 | chr5 | 112840179 | C | T |
c.4585C>T
|
p.Gln1529Ter
|
4.67 |
|
A | ||
| 16215 | chr5 | 112840220 | T | TAA |
c.4628_4629dup
|
p.Glu1544LysfsTer22
|
- | 4.0 |
|
B | |
| 21785 | chr5 | 112840233 | G | T |
c.4639G>T
|
p.Glu1547Ter
|
- | 4.5 |
|
B | |
| 31052 | chr5 | 112840239 | C | T |
c.4645C>T
|
p.Gln1549Ter
|
4.5 |
|
B | ||
| 287 | chr5 | 112840254 | G | GA |
c.4666dup
|
p.Thr1556AsnfsTer3
|
4.67 |
|
A | ||
| 288 | chr5 | 112840254 | GA | G |
c.4666del
|
p.Thr1556LeufsTer9
|
4.67 |
|
A | ||
| 31660 | chr5 | 112840276 | AG | A |
c.4684del
|
p.Asp1562ThrfsTer3
|
- | 4.0 |
|
B | |
| 28578 | chr5 | 112840278 | G | A |
c.4684G>A
|
p.Asp1562Asn
|
3.0 |
|
B | ||
| 31104 | chr5 | 112840285 | T | A |
c.4691T>A
|
p.Leu1564Ter
|
- | 4.5 |
|
B | |
| 289 | chr5 | 112840285 | T | G |
c.4691T>G
|
p.Leu1564Ter
|
- | 4.67 |
|
A | |
| 10582 | chr5 | 112840289 | T | TG |
c.4696dup
|
p.Asp1566GlyfsTer4
|
- | 4.0 |
|
B | |
| 11531 | chr5 | 112840325 | AT | A |
c.4732del
|
p.Cys1578ValfsTer72
|
- | 4.0 |
|
B | |
| 290 | chr5 | 112840325 | ATG | A |
c.4733_4734del
|
p.Cys1578TyrfsTer12
|
4.67 |
|
A |