Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 24612 | chr7 | 87515373 | C | A |
c.3140G>T
|
p.Arg1047Leu
|
- | 3.0 |
|
B | |
| 30987 | chr7 | 87516602 | G | C |
c.2991C>G
|
p.Asp997Glu
|
- | 3.0 |
|
B | |
| 17100 | chr7 | 87516606 | G | A |
c.2987C>T
|
p.Pro996Leu
|
- | 3.0 |
|
B | |
| 32567 | chr7 | 87516610 | C | A |
c.2983G>T
|
p.Ala995Ser
|
- | 3.0 |
|
B | |
| 1032 | chr7 | 87520786 | C | A |
c.2776G>T
|
p.Val926Leu
|
- | 3.0 |
|
B | |
| 21914 | chr7 | 87520818 | T | G |
c.2744A>C
|
p.Lys915Thr
|
3.0 |
|
B | ||
| 15812 | chr7 | 87531469 | G | A |
c.2510C>T
|
p.Thr837Ile
|
- | 3.0 |
|
B | |
| 23482 | chr7 | 87531469 | G | T |
c.2510C>A
|
p.Thr837Asn
|
- | 3.0 |
|
B | |
| 7895 | chr7 | 87536453 | C | T |
c.2481+5G>A
|
-
|
3.0 |
|
B | ||
| 7685 | chr7 | 87536546 | G | A |
c.2398-5C>T
|
-
|
3.0 |
|
B | ||
| 30605 | chr7 | 87539254 | C | A |
c.2397+14G>T
|
-
|
- | 3.0 |
|
B | |
| 6662 | chr7 | 87539300 | G | A |
c.2365C>T
|
p.Arg789Ter
|
3.0 |
|
B | ||
| 15015 | chr7 | 87541370 | G | T |
c.2306C>A
|
p.Thr769Lys
|
- | 3.0 |
|
B | |
| 17062 | chr7 | 87544807 | G | A |
c.2064+16C>T
|
-
|
3.0 |
|
B | ||
| 21388 | chr7 | 87544825 | G | A |
c.2062C>T
|
p.Leu688=
|
3.0 |
|
B | ||
| 7961 | chr7 | 87544844 | C | A |
c.2043G>T
|
p.Lys681Asn
|
- | 3.0 |
|
B | |
| 8971 | chr7 | 87544914 | G | A |
c.1973C>T
|
p.Ser658Leu
|
- | 3.0 |
|
B | |
| 23740 | chr7 | 87544992 | C | T |
c.1895G>A
|
p.Gly632Glu
|
- | 3.0 |
|
B | |
| 26090 | chr7 | 87545902 | C | T |
c.1848G>A
|
p.Met616Ile
|
- | 3.0 |
|
B | |
| 2546 | chr7 | 87545946 | C | T |
c.1804G>A
|
p.Asp602Asn
|
3.0 |
|
B |