Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 26996 | chr1 | 114399515 | G | A |
c.3062C>T
|
p.Pro1021Leu
|
3.0 |
|
B | ||
| 22521 | chr1 | 114407031 | C | A |
c.2328G>T
|
p.Lys776Asn
|
- | 3.0 |
|
B | |
| 21892 | chr1 | 114410271 | ATC | A |
c.2105_2106del
|
p.Arg702IlefsTer45
|
- | 4.0 |
|
B | |
| 28880 | chr1 | 114421641 | T | C |
c.1861-5A>G
|
-
|
3.0 |
|
B | ||
| 25237 | chr1 | 114425690 | C | A |
c.1454G>T
|
p.Gly485Val
|
- | 3.0 |
|
B | |
| 27919 | chr1 | 114427752 | C | T |
c.1298G>A
|
p.Arg433Gln
|
- | 3.0 |
|
B | |
| 28885 | chr1 | 114427901 | C | T |
c.1156-7G>A
|
-
|
- | 3.0 |
|
B | |
| 25247 | chr1 | 114430835 | A | G |
c.1118T>C
|
p.Ile373Thr
|
- | 3.0 |
|
B | |
| 30800 | chr1 | 114433602 | A | C |
c.1040+15T>G
|
-
|
1.0 |
|
B | ||
| 21925 | chr1 | 114464278 | A | AT |
c.636dup
|
p.Ser213IlefsTer7
|
- | 4.0 |
|
B | |
| 21646 | chr1 | 114464298 | G | A |
c.617C>T
|
p.Pro206Leu
|
- | 3.0 |
|
B | |
| 29146 | chr1 | 114510664 | G | C |
c.413C>G
|
p.Ala138Gly
|
- | 3.0 |
|
B | |
| 19364 | chr1 | 114510801 | G | GC |
c.275dup
|
p.Ala93ArgfsTer45
|
- | 4.0 |
|
B | |
| 13806 | chr1 | 114510857 | A | G |
c.220T>C
|
p.Ser74Pro
|
- | 3.0 |
|
B | |
| 33994 | chr1 | 114510889 | T | C |
c.188A>G
|
p.Asp63Gly
|
- | 3.0 |
|
B | |
| 9823 | chr1 | 114708671 | T | A |
c.451-17A>T
|
-
|
3.0 |
|
B | ||
| 27284 | chr1 | 114708672 | GA | G |
c.451-19del
|
-
|
3.0 |
|
B | ||
| 21477 | chr1 | 114709583 | C | T |
c.436G>A
|
p.Ala146Thr
|
3.5 |
|
B | ||
| 28015 | chr1 | 114709702 | G | A |
c.317C>T
|
p.Ser106Leu
|
3.0 |
|
B | ||
| 28266 | chr1 | 114709737 | G | A |
c.291-9C>T
|
-
|
2.5 |
|
B |