Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1800 | chr7 | 106869321 | A | G |
c.1760A>G
|
p.Lys587Arg
|
- | 3.0 |
|
B | |
| 789 | chr7 | 106869366 | A | G |
c.1805A>G
|
p.Glu602Gly
|
- | 3.0 |
|
B | |
| 34599 | chr7 | 106869455 | G | A |
c.1894G>A
|
p.Asp632Asn
|
3.0 |
|
B | ||
| 8330 | chr7 | 106872550 | A | C |
c.2009A>C
|
p.Glu670Ala
|
- | 3.0 |
|
B | |
| 32027 | chr7 | 106872699 | G | C |
c.2062-14G>C
|
-
|
- | 3.0 |
|
B | |
| 32986 | chr7 | 106872712 | G | A |
c.2062-1G>A
|
p.?
|
- | 3.5 |
|
B | |
| 26284 | chr7 | 106872801 | TGGAAGCCTATCTGA | T |
c.2153_2166del
|
p.Glu718GlyfsTer26
|
- | 3.0 |
|
B | |
| 4052 | chr7 | 106872857 | G | C |
c.2206G>C
|
p.Val736Leu
|
- | 3.0 |
|
B | |
| 25669 | chr7 | 106872926 | G | A |
c.2275G>A
|
p.Val759Ile
|
3.0 |
|
B | ||
| 9768 | chr7 | 106874753 | G | A |
c.2341G>A
|
p.Glu781Lys
|
3.0 |
|
B | ||
| 35270 | chr7 | 106879529 | G | A |
c.2402G>A
|
p.Cys801Tyr
|
3.0 |
|
B | ||
| 1033 | chr7 | 106879671 | C | A |
c.2538+6C>A
|
-
|
- | 3.0 |
|
B | |
| 2548 | chr7 | 106882123 | C | T |
c.2545C>T
|
p.Arg849Ter
|
3.5 |
|
B | ||
| 31906 | chr7 | 106882159 | G | T |
c.2581G>T
|
p.Asp861Tyr
|
- | 3.0 |
|
B | |
| 11977 | chr7 | 106882196 | G | T |
c.2618G>T
|
p.Gly873Val
|
3.0 |
|
B | ||
| 23336 | chr7 | 106882225 | G | A |
c.2629+18G>A
|
-
|
- | 3.0 |
|
B | |
| 12523 | chr7 | 106883172 | A | C |
c.2760+9A>C
|
-
|
- | 3.0 |
|
B | |
| 2655 | chr7 | 106886158 | G | A |
c.2896G>A
|
p.Gly966Arg
|
3.0 |
|
B | ||
| 18468 | chr7 | 106886182 | AG | A |
c.2921del
|
p.Ser974IlefsTer14
|
- | 3.5 |
|
B | |
| 17996 | chr7 | 106886225 | C | T |
c.2963C>T
|
p.Thr988Ile
|
3.0 |
|
B |