Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 26910 | chr17 | 31325977 | G | T |
c.4993G>T
-
|
p.Val1665Phe
-
|
- | 3.5 |
|
B | |
| 34409 | chr17 | 31325999 | AC | A |
c.5016del
-
|
p.Asp1672GlufsTer26
-
|
4.5 |
|
B | ||
| 29230 | chr17 | 31326046 | G | T |
c.5062G>T
-
|
p.Glu1688Ter
-
|
4.5 |
|
B | ||
| 4181 | chr17 | 31326085 | A | T |
c.5101A>T
-
|
p.Lys1701Ter
-
|
- | 4.0 |
|
B | |
| 27543 | chr17 | 31326094 | A | T |
c.5110A>T
-
|
p.Lys1704Ter
-
|
- | 4.0 |
|
B | |
| 16115 | chr17 | 31326239 | A | T |
c.5255A>T
-
|
p.Lys1752Ile
-
|
- | 3.0 |
|
B | |
| 31450 | chr17 | 31326253 | G | A |
c.5268+1G>A
-
|
p.?
-
|
- | 4.5 |
|
B | |
| 25587 | chr17 | 31327488 | C | G |
c.5269-11C>G
|
-
|
- | 3.0 |
|
B | |
| 19109 | chr17 | 31327535 | C | T |
c.5305C>T
|
p.Arg1769Ter
|
4.5 |
|
B | ||
| 32088 | chr17 | 31327597 | A | C |
c.5367A>C
|
p.Glu1789Asp
|
- | 3.0 |
|
B | |
| 4108 | chr17 | 31327694 | C | T |
c.5464C>T
|
p.Gln1822Ter
|
5.0 |
|
B | ||
| 10787 | chr17 | 31327762 | G | T |
c.5532G>T
|
p.Lys1844Asn
|
- | 3.0 |
|
B | |
| 1718 | chr17 | 31327782 | C | T |
c.5552C>T
|
p.Pro1851Leu
|
3.0 |
|
B | ||
| 29393 | chr17 | 31327785 | G | A |
c.5555G>A
|
p.Gly1852Glu
|
- | 3.0 |
|
B | |
| 13825 | chr17 | 31327840 | G | C |
c.5609+1G>C
|
p.?
|
- | 4.5 |
|
B | |
| 22133 | chr17 | 31327844 | G | A |
c.5609+5G>A
|
-
|
4.0 |
|
B | ||
| 3557 | chr17 | 31330343 | TA | T |
c.5662del
|
p.Ile1888SerfsTer6
|
4.0 |
|
B | ||
| 13672 | chr17 | 31330425 | G | C |
c.5739G>C
|
p.Lys1913Asn
|
- | 3.0 |
|
B | |
| 7469 | chr17 | 31330499 | G | GT |
c.5812+2dup
|
-
|
4.0 |
|
B | ||
| 34234 | chr17 | 31334872 | GAC | G |
c.5848_5849del
|
p.Thr1950SerfsTer13
|
- | 4.5 |
|
B |