Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 6346 | chr12 | 882079 | T | C |
c.3372+6T>C
|
-
|
- | 3.0 |
|
B | |
| 21790 | chr12 | 884661 | C | T |
c.3857C>T
|
p.Thr1286Ile
|
- | 3.0 |
|
B | |
| 13493 | chr12 | 884703 | C | A |
c.3899C>A
|
p.Ser1300Tyr
|
- | 3.0 |
|
B | |
| 9986 | chr12 | 885026 | G | C |
c.4222G>C
|
p.Val1408Leu
|
- | 3.0 |
|
B | |
| 32868 | chr12 | 885087 | C | T |
c.4283C>T
|
p.Ser1428Phe
|
- | 3.0 |
|
B | |
| 34153 | chr12 | 885162 | T | C |
c.4358T>C
|
p.Val1453Ala
|
- | 3.0 |
|
B | |
| 15701 | chr12 | 885231 | C | T |
c.4427C>T
|
p.Ser1476Phe
|
- | 3.0 |
|
B | |
| 8445 | chr12 | 885590 | C | T |
c.4786C>T
|
p.Gln1596Ter
|
- | 3.0 |
|
B | |
| 1967 | chr12 | 885669 | C | G |
c.4865C>G
|
p.Pro1622Arg
|
- | 3.0 |
|
B | |
| 34483 | chr12 | 885846 | C | G |
c.5042C>G
|
p.Ser1681Ter
|
- | 3.0 |
|
B | |
| 7481 | chr12 | 885978 | T | C |
c.5174T>C
|
p.Val1725Ala
|
3.0 |
|
B | ||
| 9698 | chr12 | 886082 | C | T |
c.5278C>T
|
p.Pro1760Ser
|
3.0 |
|
B | ||
| 22765 | chr12 | 887311 | C | G |
c.5364+7C>G
|
-
|
- | 3.0 |
|
B | |
| 28537 | chr12 | 890513 | G | A |
c.5509G>A
|
p.Val1837Ile
|
- | 3.0 |
|
B | |
| 33953 | chr12 | 896186 | C | G |
c.5699C>G
|
p.Pro1900Arg
|
- | 3.0 |
|
B | |
| 27981 | chr12 | 896243 | C | G |
c.5756C>G
|
p.Ser1919Ter
|
- | 3.0 |
|
B | |
| 26813 | chr12 | 896279 | C | T |
c.5792C>T
|
p.Ser1931Leu
|
- | 3.0 |
|
B | |
| 24308 | chr12 | 896377 | G | A |
c.5890G>A
|
p.Glu1964Lys
|
- | 3.0 |
|
B | |
| 11685 | chr12 | 896468 | C | T |
c.5981C>T
|
p.Pro1994Leu
|
- | 3.0 |
|
B | |
| 28110 | chr12 | 896591 | A | G |
c.6104A>G
|
p.Gln2035Arg
|
- | 3.0 |
|
B |