Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 17493 | chr7 | 92002852 | G | A |
c.2935G>A
|
p.Glu979Lys
|
- | 3.0 |
|
B | |
| 25998 | chr7 | 92002957 | ACT | A |
c.3042_3043del
|
p.Gln1015SerfsTer17
|
- | 3.0 |
|
B | |
| 11143 | chr7 | 92002993 | A | G |
c.3076A>G
|
p.Met1026Val
|
3.0 |
|
B | ||
| 32374 | chr7 | 92012459 | C | T |
c.3349C>T
|
p.Arg1117Cys
|
3.0 |
|
B | ||
| 24924 | chr7 | 92014344 | G | C |
c.3612+16G>C
|
-
|
- | 3.0 |
|
B | |
| 1623 | chr7 | 92016264 | C | G |
c.3748C>G
|
p.Gln1250Glu
|
- | 3.0 |
|
B | |
| 30957 | chr7 | 92017038 | C | A |
c.3773C>A
|
p.Thr1258Asn
|
- | 3.0 |
|
B | |
| 3792 | chr7 | 92017089 | C | G |
c.3824C>G
|
p.Thr1275Arg
|
- | 3.0 |
|
B | |
| 10982 | chr7 | 92022864 | A | AAAC |
c.4004_4006dup
|
p.Lys1335_Leu1336insGln
|
1.5 |
|
B | ||
| 6723 | chr7 | 92022876 | C | G |
c.4015C>G
|
p.Gln1339Glu
|
- | 3.0 |
|
B | |
| 8602 | chr7 | 92022969 | A | C |
c.4108A>C
|
p.Lys1370Gln
|
- | 3.0 |
|
B | |
| 22742 | chr7 | 92023002 | C | T |
c.4141C>T
|
p.Pro1381Ser
|
- | 3.0 |
|
B | |
| 12659 | chr7 | 92029939 | G | C |
c.4193G>C
|
p.Arg1398Thr
|
- | 3.0 |
|
B | |
| 21818 | chr7 | 92029989 | G | C |
c.4243G>C
|
p.Glu1415Gln
|
3.0 |
|
B | ||
| 21789 | chr7 | 92031592 | A | C |
c.4326A>C
|
p.Glu1442Asp
|
- | 3.0 |
|
B | |
| 1856 | chr7 | 92038693 | T | C |
c.4613T>C
|
p.Ile1538Thr
|
2.5 |
|
B | ||
| 28120 | chr7 | 92038778 | T | C |
c.4692+6T>C
|
-
|
- | 3.0 |
|
B | |
| 5806 | chr7 | 92040722 | A | G |
c.4741A>G
|
p.Met1581Val
|
- | 3.0 |
|
B | |
| 1904 | chr7 | 92040870 | T | G |
c.4889T>G
|
p.Ile1630Ser
|
- | 3.0 |
|
B | |
| 5940 | chr7 | 92042077 | C | CAG |
c.4960_4961dup
|
p.Val1655GlyfsTer4
|
3.0 |
|
B |