Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 29145 | chr1 | 47224017 | C | T |
c.528G>A
|
p.Met176Ile
|
3.0 |
|
B | ||
| 34873 | chr1 | 47224092 | G | C |
c.453C>G
|
p.Phe151Leu
|
- | 3.0 |
|
B | |
| 23215 | chr1 | 47225845 | TG | T |
c.43del
|
p.Gln15SerfsTer2
|
- | 3.0 |
|
B | |
| 29282 | chr1 | 47251253 | A | C |
c.3750T>G
|
p.Ile1250Met
|
- | 3.0 |
|
B | |
| 18351 | chr1 | 47280570 | G | A |
c.1888C>T
|
p.Gln630Ter
|
- | 3.0 |
|
B | |
| 24337 | chr1 | 47280821 | A | ACATTTCCAG |
c.1628_1636dup
|
p.Ala543_Asn545dup
|
- | 3.0 |
|
B | |
| 25521 | chr1 | 47281035 | T | C |
c.1423A>G
|
p.Ser475Gly
|
- | 3.0 |
|
B | |
| 16922 | chr1 | 47287535 | C | A |
c.1133+16G>T
|
-
|
- | 3.0 |
|
B | |
| 14055 | chr1 | 47289522 | C | G |
c.936G>C
|
p.Glu312Asp
|
- | 3.0 |
|
B | |
| 11260 | chr1 | 47293545 | C | T |
c.786-1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 15457 | chr1 | 47299926 | A | C |
c.680T>G
|
p.Val227Gly
|
- | 3.0 |
|
B | |
| 35635 | chr1 | 47300096 | G | A |
c.510C>T
|
p.Ser170=
|
- | 3.0 |
|
B | |
| 26371 | chr1 | 47301718 | C | T |
c.296G>A
|
p.Arg99His
|
3.0 |
|
B | ||
| 21113 | chr1 | 47304920 | C | T |
c.121G>A
|
p.Asp41Asn
|
- | 3.0 |
|
B | |
| 28677 | chr1 | 47310270 | C | A |
c.44+6G>T
|
-
|
- | 3.0 |
|
B | |
| 3369 | chr1 | 50197451 | G | A |
c.757G>A
|
p.Ala253Thr
|
- | 3.0 |
|
B | |
| 6899 | chr1 | 50970382 | G | A |
c.14G>A
|
p.Trp5Ter
|
- | 4.0 |
|
B | |
| 23569 | chr1 | 50970407 | TGCCAGGGGGGACC | T |
c.40_52del
|
p.Ala14Ter
|
- | 4.0 |
|
B | |
| 20646 | chr1 | 50970411 | A | AGG |
c.48_49dup
|
p.Asp17GlyfsTer3
|
- | 4.0 |
|
B | |
| 23570 | chr1 | 50970421 | TAGAGCAACTTACTAG | T |
c.54_68del
|
p.Glu19_Ser23del
|
- | 3.0 |
|
B |