Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 6523 | chr2 | 215397121 | T | A |
c.3604+16A>T
|
-
|
- | 3.0 |
|
B | |
| 13140 | chr2 | 215397794 | A | G |
c.3403T>C
|
p.Ser1135Pro
|
3.0 |
|
B | ||
| 9111 | chr2 | 215397809 | C | G |
c.3388G>C
|
p.Glu1130Gln
|
- | 3.0 |
|
B | |
| 33328 | chr2 | 215397849 | C | A |
c.3349-1G>T
|
p.?
|
- | 3.0 |
|
B | |
| 21265 | chr2 | 215404371 | A | T |
c.3253+18T>A
|
-
|
- | 3.0 |
|
B | |
| 9112 | chr2 | 215404381 | C | T |
c.3253+8G>A
|
-
|
3.0 |
|
B | ||
| 30804 | chr2 | 215404437 | T | G |
c.3205A>C
|
p.Ile1069Leu
|
- | 3.0 |
|
B | |
| 27753 | chr2 | 215404640 | G | T |
c.3002C>A
|
p.Thr1001Asn
|
- | 3.0 |
|
B | |
| 19299 | chr2 | 215404663 | A | G |
c.2987-8T>C
|
-
|
- | 3.0 |
|
B | |
| 11682 | chr2 | 215406436 | G | A |
c.2788C>T
|
p.Pro930Ser
|
- | 3.0 |
|
B | |
| 8731 | chr2 | 215407159 | A | G |
c.2681T>C
|
p.Ile894Thr
|
- | 3.0 |
|
B | |
| 931 | chr2 | 215408375 | C | T |
c.2351G>A
|
p.Arg784Gln
|
3.0 |
|
B | ||
| 34458 | chr2 | 215408427 | C | A |
c.2300-1G>T
|
p.?
|
- | 3.0 |
|
B | |
| 697 | chr2 | 215409629 | C | T |
c.2233G>A
|
p.Asp745Asn
|
3.0 |
|
B | ||
| 3084 | chr2 | 215409630 | G | A |
c.2232C>T
|
p.Ser744=
|
3.0 |
|
B | ||
| 8403 | chr2 | 215409718 | G | A |
c.2144C>T
|
p.Thr715Met
|
2.5 |
|
B | ||
| 24269 | chr2 | 215414851 | G | A |
c.1927C>T
|
p.Leu643Phe
|
3.0 |
|
B | ||
| 1401 | chr2 | 215414888 | C | T |
c.1890G>A
|
p.Trp630Ter
|
- | 3.0 |
|
B | |
| 3234 | chr2 | 215414943 | A | G |
c.1835T>C
|
p.Val612Ala
|
- | 3.0 |
|
B | |
| 34569 | chr2 | 215425180 | GAGTAGACCACACCACTGTCTGTGAC | G |
c.925_949del
|
p.Val309LeufsTer7
|
- | 3.0 |
|
B |