Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 16329 | chr7 | 142868567 | T | G |
c.2114T>G
-
|
p.Leu705Arg
-
|
- | 3.0 |
|
B | |
| 6373 | chr7 | 142868716 | G | C |
c.2263G>C
-
|
p.Gly755Arg
-
|
- | 3.0 |
|
B | |
| 22090 | chr7 | 142868719 | C | G |
c.2266C>G
-
|
p.Pro756Ala
-
|
- | 3.0 |
|
B | |
| 4471 | chr7 | 142868968 | C | T |
c.2287-6C>T
-
|
-
-
|
3.0 |
|
B | ||
| 27130 | chr7 | 142868975 | A | G |
c.2288A>G
-
|
p.Gln763Arg
-
|
- | 3.0 |
|
B | |
| 25373 | chr7 | 142868980 | G | A |
c.2293G>A
-
|
p.Glu765Lys
-
|
- | 3.0 |
|
B | |
| 9580 | chr7 | 142869011 | C | T |
c.2324C>T
-
|
p.Ala775Val
-
|
- | 3.0 |
|
B | |
| 6254 | chr7 | 142869020 | G | A |
c.2333G>A
-
|
p.Arg778Gln
-
|
3.0 |
|
B | ||
| 16890 | chr7 | 142869039 | G | A |
c.2352G>A
-
|
p.Met784Ile
-
|
- | 3.0 |
|
B | |
| 10405 | chr7 | 142869128 | G | A |
c.2441G>A
-
|
p.Arg814His
-
|
3.0 |
|
B | ||
| 5096 | chr7 | 142869143 | C | T |
c.2456C>T
-
|
p.Pro819Leu
-
|
- | 3.0 |
|
B | |
| 11503 | chr7 | 142869807 | T | G |
c.2461-10T>G
-
|
-
-
|
- | 3.0 |
|
B | |
| 21057 | chr7 | 142869835 | C | T |
c.2479C>T
-
|
p.Arg827Cys
-
|
3.0 |
|
B | ||
| 20347 | chr7 | 142870409 | T | C |
c.2804+2T>C
-
|
p.?
-
|
- | 3.0 |
|
B | |
| 14203 | chr7 | 142870645 | G | T |
c.2920G>T
-
|
p.Gly974Cys
-
|
- | 3.0 |
|
B | |
| 26076 | chr7 | 142870786 | T | C |
c.2961-10T>C
-
|
-
-
|
- | 3.0 |
|
B | |
| 29770 | chr7 | 142870806 | G | A |
c.2971G>A
-
|
p.Ala991Thr
-
|
- | 3.0 |
|
B | |
| 21068 | chr7 | 142941268 | C | T |
c.2183G>A
-
|
p.Arg728His
-
|
3.0 |
|
B | ||
| 4935 | chr7 | 142941269 | G | A |
c.2182C>T
-
|
p.Arg728Cys
-
|
3.0 |
|
B | ||
| 11573 | chr7 | 142941305 | G | A |
c.2146C>T
-
|
p.Arg716Cys
-
|
3.0 |
|
B |