Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 15253 | chr7 | 50387472 | TAAGCGCTGCTGCTCGGAGGCCAGCCTGGTGGGCTCTC | T |
c.715+3_715+39del
|
-
|
- | 3.0 |
|
B | |
| 26610 | chr7 | 50391713 | C | T |
c.716-16C>T
|
-
|
- | 3.0 |
|
B | |
| 21273 | chr7 | 50391726 | T | C |
c.716-3T>C
|
-
|
3.0 |
|
B | ||
| 1291 | chr7 | 50391760 | G | A |
c.747G>A
|
p.Met249Ile
|
- | 3.0 |
|
B | |
| 31408 | chr7 | 50391780 | T | C |
c.767T>C
|
p.Ile256Thr
|
3.0 |
|
B | ||
| 7129 | chr7 | 50391794 | TCTCTCGTGCTGGACAGACTAGCAAG | T |
c.782_806del
|
p.Ser261LeufsTer37
|
- | 4.0 |
|
B | |
| 5122 | chr7 | 50391810 | G | C |
c.797G>C
|
p.Arg266Thr
|
- | 3.0 |
|
B | |
| 11677 | chr7 | 50391827 | G | A |
c.814G>A
|
p.Ala272Thr
|
3.0 |
|
B | ||
| 26678 | chr7 | 50399902 | C | T |
c.851-16C>T
|
-
|
- | 3.0 |
|
B | |
| 24338 | chr7 | 50399914 | A | C |
c.851-4A>C
|
-
|
- | 3.0 |
|
B | |
| 24339 | chr7 | 50399916 | A | G |
c.851-2A>G
|
p.?
|
- | 4.0 |
|
B | |
| 9279 | chr7 | 50399918 | G | A |
c.851G>A
|
p.Gly284Glu
|
- | 3.0 |
|
B | |
| 24340 | chr7 | 50399919 | G | T |
c.852G>T
|
p.Gly284=
|
- | 3.0 |
|
B | |
| 23717 | chr7 | 50399985 | G | A |
c.918G>A
|
p.Met306Ile
|
- | 3.0 |
|
B | |
| 26804 | chr7 | 50399998 | A | G |
c.931A>G
|
p.Met311Val
|
- | 3.0 |
|
B | |
| 7499 | chr7 | 50400019 | G | A |
c.952G>A
|
p.Ala318Thr
|
- | 3.0 |
|
B | |
| 9554 | chr7 | 50400040 | G | T |
c.973G>T
|
p.Glu325Ter
|
- | 3.5 |
|
B | |
| 18110 | chr7 | 50400149 | C | T |
c.1082C>T
|
p.Ser361Phe
|
- | 3.0 |
|
B | |
| 24300 | chr7 | 50400201 | G | T |
c.1134G>T
|
p.Lys378Asn
|
- | 3.0 |
|
B | |
| 15935 | chr7 | 50400224 | G | A |
c.1157G>A
|
p.Arg386His
|
3.0 |
|
B |