Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 19491 | chr7 | 116757768 | TA | T |
c.2101del
|
p.Ser701ValfsTer24
|
- | 3.0 |
|
B | |
| 24249 | chr7 | 116759390 | G | C |
c.2265-1G>C
|
p.?
|
- | 3.0 |
|
B | |
| 7444 | chr7 | 116759396 | G | A |
c.2270G>A
|
p.Gly757Glu
|
3.0 |
|
B | ||
| 35321 | chr7 | 116759447 | G | T |
c.2321G>T
|
p.Arg774Ile
|
- | 3.0 |
|
B | |
| 2173 | chr7 | 116769745 | C | T |
c.2684C>T
|
p.Thr895Met
|
2.5 |
|
B | ||
| 28356 | chr7 | 116771537 | A | G |
c.2770A>G
|
p.Ile924Val
|
3.0 |
|
B | ||
| 27616 | chr7 | 116771863 | TTAGTTCGCTACGATGCAAGAG | T |
c.2905_2925del
|
p.Val969_Val975del
|
- | 3.0 |
|
B | |
| 29388 | chr7 | 116771920 | C | G |
c.2959C>G
|
p.Arg987Gly
|
- | 3.0 |
|
B | |
| 13533 | chr7 | 116771988 | A | AG |
c.3028+1dup
|
p.?
|
- | 3.5 |
|
B | |
| 19197 | chr7 | 116774880 | G | T |
c.3029-1G>T
|
p.?
|
- | 3.0 |
|
B | |
| 16364 | chr7 | 116775115 | A | C |
c.3259+4A>C
|
-
|
- | 3.0 |
|
B | |
| 15189 | chr7 | 116777430 | G | A |
c.3301G>A
|
p.Asp1101Asn
|
2.5 |
|
B | ||
| 8347 | chr7 | 116778813 | C | T |
c.3378C>T
|
p.Thr1126=
|
2.0 |
|
B | ||
| 505 | chr7 | 116778821 | T | A |
c.3386T>A
|
p.Ile1129Asn
|
- | 3.0 |
|
B | |
| 35322 | chr7 | 116778943 | C | T |
c.3508C>T
|
p.Arg1170Ter
|
3.0 |
|
B | ||
| 20344 | chr7 | 116782056 | CA | C |
c.3596del
|
p.Lys1199SerfsTer49
|
- | 3.0 |
|
B | |
| 5626 | chr7 | 116782063 | T | C |
c.3598T>C
|
p.Phe1200Leu
|
3.5 |
|
B | ||
| 13898 | chr7 | 116795657 | G | A |
c.3801G>A
|
p.Trp1267Ter
|
- | 3.0 |
|
B | |
| 13868 | chr7 | 116795689 | C | T |
c.3833C>T
|
p.Thr1278Ile
|
- | 3.0 |
|
B | |
| 10892 | chr7 | 116795709 | C | T |
c.3853C>T
|
p.Pro1285Ser
|
3.0 |
|
B |