Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 27379 | chr7 | 55143356 | C | T |
c.292C>T
|
p.Arg98Ter
|
3.0 |
|
B | ||
| 20961 | chr7 | 55143363 | C | T |
c.299C>T
|
p.Pro100Leu
|
- | 3.0 |
|
B | |
| 309 | chr7 | 55143387 | G | A |
c.323G>A
|
p.Arg108Lys
|
4.33 |
|
A | ||
| 29937 | chr7 | 55143388 | AG | A |
c.326del
|
p.Gly109GlufsTer11
|
- | 3.0 |
|
B | |
| 34948 | chr7 | 55146623 | G | A |
c.442G>A
|
p.Val148Met
|
3.0 |
|
B | ||
| 22088 | chr7 | 55146749 | C | T |
c.559+9C>T
|
-
|
2.0 |
|
B | ||
| 2878 | chr7 | 55151308 | C | T |
c.574C>T
|
p.Pro192Ser
|
- | 3.0 |
|
B | |
| 310 | chr7 | 55152581 | C | T |
c.664C>T
|
p.Arg222Cys
|
3.67 |
|
A | ||
| 22476 | chr7 | 55152602 | A | T |
c.685A>T
|
p.Ser229Cys
|
- | 3.0 |
|
B | |
| 2809 | chr7 | 55152608 | T | C |
c.691T>C
|
p.Cys231Arg
|
- | 3.0 |
|
B | |
| 25409 | chr7 | 55152635 | T | C |
c.718T>C
|
p.Cys240Arg
|
- | 3.0 |
|
B | |
| 29360 | chr7 | 55154004 | T | A |
c.748-7T>A
|
-
|
- | 3.0 |
|
B | |
| 7953 | chr7 | 55154050 | A | C |
c.787A>C
|
p.Thr263Pro
|
3.5 |
|
B | ||
| 6599 | chr7 | 55154051 | C | T |
c.788C>T
|
p.Thr263Ile
|
- | 3.0 |
|
B | |
| 8563 | chr7 | 55154110 | G | T |
c.847G>T
|
p.Gly283Cys
|
- | 3.0 |
|
B | |
| 4231 | chr7 | 55154128 | G | A |
c.865G>A
|
p.Ala289Thr
|
4.5 |
|
B | ||
| 13246 | chr7 | 55154129 | C | A |
c.866C>A
|
p.Ala289Asp
|
4.0 |
|
B | ||
| 311 | chr7 | 55154129 | C | T |
c.866C>T
|
p.Ala289Val
|
4.33 |
|
A | ||
| 28263 | chr7 | 55154137 | G | A |
c.874G>A
|
p.Val292Met
|
3.0 |
|
B | ||
| 19312 | chr7 | 55154137 | G | T |
c.874G>T
|
p.Val292Leu
|
3.0 |
|
B |