Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 6189 | chr1 | 153934805 | G | C |
c.2728C>G
|
p.Gln910Glu
|
3.0 |
|
B | ||
| 28245 | chr1 | 154159062 | G | A |
-
-
|
-
-
|
3.0 |
|
B | ||
| 25606 | chr1 | 154169306 | T | C |
c.853A>G
|
p.Ile285Val
|
3.0 |
|
B | ||
| 11112 | chr1 | 154170488 | T | C |
c.706-19A>G
|
-
|
- | 3.0 |
|
B | |
| 15735 | chr1 | 154176113 | A | T |
c.377+2T>A
|
p.?
|
- | 4.0 |
|
B | |
| 22710 | chr1 | 154191266 | C | G |
c.163G>C
|
p.Glu55Gln
|
- | 3.0 |
|
B | |
| 13769 | chr1 | 154191994 | T | A |
c.25A>T
|
p.Met9Leu
|
3.0 |
|
B | ||
| 24033 | chr1 | 154192001 | C | A |
c.18G>T
|
p.Lys6Asn
|
3.0 |
|
B | ||
| 34548 | chr1 | 154192002 | T | A |
c.17A>T
|
p.Lys6Met
|
- | 3.0 |
|
B | |
| 19513 | chr1 | 154405704 | C | T |
c.75C>T
|
p.Cys25=
|
- | 3.0 |
|
B | |
| 14367 | chr1 | 154429257 | GGTAGA | G |
c.149_153del
|
p.Val50AlafsTer82
|
- | 3.0 |
|
B | |
| 11321 | chr1 | 154429328 | G | C |
c.218G>C
|
p.Arg73Thr
|
3.0 |
|
B | ||
| 32654 | chr1 | 154429409 | G | A |
c.299G>A
|
p.Gly100Asp
|
3.0 |
|
B | ||
| 17924 | chr1 | 154435038 | A | AC |
c.694dup
|
p.Arg232ProfsTer23
|
- | 3.0 |
|
B | |
| 25705 | chr1 | 154436080 | A | G |
c.919A>G
|
p.Ser307Gly
|
- | 3.0 |
|
B | |
| 18715 | chr1 | 154436129 | A | G |
c.949+19A>G
|
-
|
3.0 |
|
B | ||
| 33899 | chr1 | 154448120 | C | T |
c.950-5C>T
|
-
|
2.0 |
|
B | ||
| 21778 | chr1 | 154454470 | AT | A |
c.1067-8del
|
-
|
2.0 |
|
B | ||
| 24291 | chr1 | 154465292 | A | G |
c.1319A>G
|
p.Asp440Gly
|
- | 3.0 |
|
B | |
| 16886 | chr1 | 154869106 | C | T |
c.859G>A
|
p.Ala287Thr
|
- | 3.0 |
|
B |