Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 23414 | chr1 | 1212855 | C | A |
-
c.370+137G>T
|
-
-
|
- | 3.0 |
|
B | |
| 32482 | chr1 | 1218502 | T | G |
c.847A>C
-
|
p.Ile283Leu
-
|
- | 3.0 |
|
B | |
| 4614 | chr1 | 1825398 | C | T |
c.56G>A
|
p.Arg19Gln
|
3.0 |
|
B | ||
| 3768 | chr1 | 1964907 | G | A |
c.1556C>T
|
p.Pro519Leu
|
3.0 |
|
B | ||
| 22814 | chr1 | 2228813 | G | A |
c.47G>A
|
p.Gly16Glu
|
3.0 |
|
B | ||
| 23007 | chr1 | 2229168 | C | A |
c.402C>A
|
p.Phe134Leu
|
- | 3.0 |
|
B | |
| 27771 | chr1 | 2229209 | TCTA | T |
c.446_448del
|
p.Tyr149del
|
- | 3.0 |
|
B | |
| 24336 | chr1 | 2229222 | C | A |
c.456C>A
|
p.Arg152=
|
- | 3.0 |
|
B | |
| 20477 | chr1 | 2229222 | C | T |
c.456C>T
|
p.Arg152=
|
1.5 |
|
B | ||
| 26323 | chr1 | 2229264 | C | T |
c.498C>T
|
p.Ile166=
|
2.0 |
|
B | ||
| 32428 | chr1 | 2229719 | A | C |
c.953A>C
|
p.Lys318Thr
|
- | 3.0 |
|
B | |
| 31697 | chr1 | 2229738 | G | A |
c.969+3G>A
|
-
|
- | 3.0 |
|
B | |
| 30947 | chr1 | 2303382 | C | T |
c.1193C>T
|
p.Pro398Leu
|
3.0 |
|
B | ||
| 26420 | chr1 | 2303986 | G | A |
c.1358G>A
|
p.Arg453Gln
|
3.0 |
|
B | ||
| 22520 | chr1 | 2303991 | C | T |
c.1363C>T
|
p.Arg455Trp
|
3.0 |
|
B | ||
| 31835 | chr1 | 2304371 | C | T |
c.1553C>T
|
p.Ala518Val
|
2.0 |
|
B | ||
| 28732 | chr1 | 2304409 | C | T |
c.1591C>T
|
p.Pro531Ser
|
- | 3.0 |
|
B | |
| 28733 | chr1 | 2304410 | C | T |
c.1592C>T
|
p.Pro531Leu
|
3.0 |
|
B | ||
| 23008 | chr1 | 2304420 | C | CTCCAG |
c.1602_1603insTCCAG
|
p.Pro535SerfsTer39
|
- | 3.0 |
|
B | |
| 23009 | chr1 | 2304424 | AGTGGG | A |
c.1607_1611del
|
p.Ser536ThrfsTer28
|
- | 3.0 |
|
B |