Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 18023 | chr7 | 92079860 | C | G |
c.7727C>G
|
p.Thr2576Arg
|
- | 3.0 |
|
B | |
| 16750 | chr7 | 92079871 | G | A |
c.7738G>A
|
p.Glu2580Lys
|
3.0 |
|
B | ||
| 22452 | chr7 | 92079881 | G | A |
c.7748G>A
|
p.Arg2583Lys
|
- | 3.0 |
|
B | |
| 2745 | chr7 | 92079887 | A | T |
c.7754A>T
|
p.Asn2585Ile
|
- | 3.0 |
|
B | |
| 13171 | chr7 | 92079919 | G | A |
c.7786G>A
|
p.Glu2596Lys
|
- | 3.0 |
|
B | |
| 10183 | chr7 | 92082612 | G | A |
c.8110G>A
|
p.Glu2704Lys
|
3.0 |
|
B | ||
| 10021 | chr7 | 92083278 | G | A |
c.8269G>A
|
p.Glu2757Lys
|
- | 3.0 |
|
B | |
| 5545 | chr7 | 92083481 | T | G |
c.8472T>G
|
p.Phe2824Leu
|
3.0 |
|
B | ||
| 2574 | chr7 | 92083658 | A | G |
c.8646+3A>G
|
-
|
- | 3.0 |
|
B | |
| 8167 | chr7 | 92084637 | T | G |
c.8647-3T>G
|
-
|
- | 3.0 |
|
B | |
| 16597 | chr7 | 92085552 | C | T |
c.8890C>T
|
p.Pro2964Ser
|
- | 3.0 |
|
B | |
| 11945 | chr7 | 92085638 | A | C |
c.8976A>C
|
p.Ser2992=
|
- | 3.0 |
|
B | |
| 18237 | chr7 | 92086262 | C | G |
c.9059C>G
|
p.Ser3020Ter
|
- | 3.0 |
|
B | |
| 30781 | chr7 | 92089413 | G | T |
c.9242G>T
|
p.Cys3081Phe
|
- | 3.0 |
|
B | |
| 13302 | chr7 | 92093098 | A | G |
c.9360A>G
|
p.Glu3120=
|
3.0 |
|
B | ||
| 23864 | chr7 | 92093237 | G | T |
c.9499G>T
|
p.Glu3167Ter
|
- | 3.0 |
|
B | |
| 10614 | chr7 | 92095024 | T | C |
c.9580T>C
|
p.Leu3194=
|
3.0 |
|
B | ||
| 7316 | chr7 | 92096781 | GC | G |
c.9823del
|
p.Gln3275LysfsTer3
|
- | 3.0 |
|
B | |
| 1550 | chr7 | 92097169 | A | T |
c.10210A>T
|
p.Lys3404Ter
|
- | 3.0 |
|
B | |
| 27947 | chr7 | 92097627 | G | T |
c.10440G>T
|
p.Trp3480Cys
|
- | 3.0 |
|
B |