Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 19164 | chr1 | 15493789 | C | T |
c.1158+103G>A
-
|
-
-
|
3.0 |
|
B | ||
| 30350 | chr1 | 15495272 | C | T |
c.1048+1G>A
-
|
p.?
-
|
- | 4.0 |
|
B | |
| 19258 | chr1 | 15495405 | C | T |
c.916G>A
-
|
p.Glu306Lys
-
|
3.0 |
|
B | ||
| 23014 | chr1 | 15506937 | G | A |
c.592C>T
|
p.His198Tyr
|
- | 3.0 |
|
B | |
| 30379 | chr1 | 15507026 | T | C |
c.503A>G
|
p.Asn168Ser
|
3.0 |
|
B | ||
| 22241 | chr1 | 15518154 | G | A |
c.374C>T
|
p.Thr125Ile
|
3.0 |
|
B | ||
| 34281 | chr1 | 15518245 | C | T |
c.283G>A
|
p.Ala95Thr
|
3.0 |
|
B | ||
| 20479 | chr1 | 15524118 | G | A |
-
c.83C>T
|
-
p.Ala28Val
|
1.0 |
|
B | ||
| 21579 | chr1 | 15524197 | C | T |
-
c.4G>A
|
-
p.Asp2Asn
|
3.0 |
|
B | ||
| 3595 | chr1 | 15736558 | AACCC | A |
-
c.74_77del
|
-
p.Asn25ThrfsTer5
|
- | 3.0 |
|
B | |
| 3596 | chr1 | 15736565 | T | TCCAG |
-
c.80_81insCCAG
|
-
p.Glu28GlnfsTer177
|
- | 3.0 |
|
B | |
| 12897 | chr1 | 15848170 | C | G |
c.83+20C>G
|
-
|
- | 3.0 |
|
B | |
| 9152 | chr1 | 15872866 | G | A |
c.134G>A
|
p.Gly45Glu
|
- | 3.0 |
|
B | |
| 13204 | chr1 | 15873034 | G | A |
c.302G>A
|
p.Ser101Asn
|
3.0 |
|
B | ||
| 20583 | chr1 | 15873058 | G | A |
c.326G>A
|
p.Gly109Glu
|
- | 3.0 |
|
B | |
| 16067 | chr1 | 15873133 | A | T |
c.401A>T
|
p.Asp134Val
|
- | 3.0 |
|
B | |
| 31740 | chr1 | 15876311 | G | T |
c.514G>T
|
p.Asp172Tyr
|
- | 3.0 |
|
B | |
| 33781 | chr1 | 15876430 | GC | G |
c.636del
|
p.Ser213ValfsTer153
|
- | 4.0 |
|
B | |
| 26683 | chr1 | 15876453 | T | C |
c.656T>C
|
p.Ile219Thr
|
3.0 |
|
B | ||
| 28734 | chr1 | 15876478 | G | T |
c.681G>T
|
p.Glu227Asp
|
- | 3.0 |
|
B |