Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 7467 | chr7 | 86839543 | G | A |
c.2029G>A
|
p.Ala677Thr
|
3.0 |
|
B | ||
| 7063 | chr7 | 86839601 | T | TA |
c.2087_2088insA
|
p.Leu697ProfsTer73
|
- | 3.0 |
|
B | |
| 10902 | chr7 | 86839765 | T | A |
c.2251T>A
|
p.Cys751Ser
|
3.0 |
|
B | ||
| 6825 | chr7 | 86839777 | G | C |
c.2263G>C
|
p.Ala755Pro
|
- | 3.0 |
|
B | |
| 29633 | chr7 | 86839869 | C | G |
c.2355C>G
|
p.Phe785Leu
|
- | 3.0 |
|
B | |
| 27830 | chr7 | 86839895 | G | C |
c.2381G>C
|
p.Ser794Thr
|
- | 3.0 |
|
B | |
| 10839 | chr7 | 86850352 | G | A |
c.2392-18G>A
|
-
|
- | 3.0 |
|
B | |
| 14848 | chr7 | 86850393 | C | T |
c.2415C>T
|
p.Ile805=
|
- | 3.0 |
|
B | |
| 5635 | chr7 | 86850456 | C | T |
c.2478C>T
|
p.Ile826=
|
3.0 |
|
B | ||
| 13301 | chr7 | 86850473 | A | T |
c.2495A>T
|
p.Lys832Met
|
- | 3.0 |
|
B | |
| 31970 | chr7 | 86850534 | A | T |
c.2556A>T
|
p.Thr852=
|
- | 3.0 |
|
B | |
| 8147 | chr7 | 86864295 | G | A |
c.2580G>A
|
p.Thr860=
|
3.0 |
|
B | ||
| 34022 | chr7 | 86864321 | G | T |
c.2606G>T
|
p.Arg869Leu
|
- | 3.0 |
|
B | |
| 8434 | chr7 | 86864344 | T | G |
c.2629T>G
|
p.Ser877Ala
|
- | 3.0 |
|
B | |
| 23334 | chr7 | 87504453 | T | G |
c.3637-4A>C
|
-
|
- | 3.0 |
|
B | |
| 23179 | chr7 | 87506046 | G | C |
c.3490-3C>G
|
-
|
- | 3.0 |
|
B | |
| 23579 | chr7 | 87506051 | T | C |
c.3490-8A>G
|
-
|
3.0 |
|
B | ||
| 23239 | chr7 | 87509352 | G | A |
c.3412C>T
|
p.Arg1138Trp
|
3.0 |
|
B | ||
| 29557 | chr7 | 87515249 | G | T |
c.3264C>A
|
p.Asp1088Glu
|
- | 3.0 |
|
B | |
| 19607 | chr7 | 87515367 | T | A |
c.3146A>T
|
p.Asp1049Val
|
- | 3.0 |
|
B |