Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 18235 | chr7 | 2944347 | C | T |
c.549G>A
|
p.Met183Ile
|
3.0 |
|
B | ||
| 1486 | chr7 | 2944424 | G | A |
c.472C>T
|
p.Gln158Ter
|
- | 3.0 |
|
B | |
| 7960 | chr7 | 2944426 | C | T |
c.470G>A
|
p.Arg157Gln
|
3.0 |
|
B | ||
| 1932 | chr7 | 2944495 | T | C |
c.401A>G
|
p.Glu134Gly
|
4.0 |
|
B | ||
| 8618 | chr7 | 2945827 | G | A |
c.350C>T
|
p.Thr117Ile
|
- | 3.0 |
|
B | |
| 21225 | chr7 | 2945854 | C | T |
c.323G>A
|
p.Gly108Glu
|
- | 3.0 |
|
B | |
| 32745 | chr7 | 2947733 | G | A |
c.62C>T
|
p.Ala21Val
|
- | 3.0 |
|
B | |
| 26609 | chr7 | 2947743 | C | T |
c.52G>A
|
p.Glu18Lys
|
3.0 |
|
B | ||
| 4138 | chr7 | 2947746 | C | T |
c.49G>A
|
p.Asp17Asn
|
3.0 |
|
B | ||
| 4497 | chr7 | 5299099 | G | A |
c.994G>A
|
p.Val332Ile
|
- | 3.0 |
|
B | |
| 3651 | chr7 | 5302928 | G | A |
-
c.1582G>A
|
-
p.Ala528Thr
|
3.0 |
|
B | ||
| 19871 | chr7 | 5527623 | CAAA | C |
c.*122_*124del
|
-
|
3.0 |
|
B | ||
| 19606 | chr7 | 5527797 | T | TG |
c.1078dup
|
p.Gln360ProfsTer4
|
3.0 |
|
B | ||
| 7214 | chr7 | 5527825 | T | C |
c.1051A>G
|
p.Thr351Ala
|
- | 3.0 |
|
B | |
| 22740 | chr7 | 5527833 | G | C |
c.1043C>G
|
p.Ser348Trp
|
- | 3.0 |
|
B | |
| 9470 | chr7 | 5527860 | A | C |
c.1016T>G
|
p.Val339Gly
|
- | 3.0 |
|
B | |
| 22193 | chr7 | 5527876 | C | T |
c.1000G>A
|
p.Glu334Lys
|
3.0 |
|
B | ||
| 31274 | chr7 | 5527897 | GAGGGA | G |
c.985-11_985-7del
|
-
|
- | 3.0 |
|
B | |
| 24836 | chr7 | 5528006 | T | G |
c.982A>C
|
p.Lys328Gln
|
3.0 |
|
B | ||
| 27675 | chr7 | 5528027 | C | CCA |
c.959_960dup
|
p.Ala321TrpfsTer6
|
- | 3.0 |
|
B |