Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 22309 | chr6 | 30705996 | G | A |
c.3187C>T
|
p.Pro1063Ser
|
3.0 |
|
B | ||
| 30385 | chr6 | 30706104 | G | C |
c.3085-6C>G
|
-
|
- | 3.0 |
|
B | |
| 18300 | chr6 | 30707622 | G | A |
c.2957C>T
|
p.Ser986Phe
|
3.0 |
|
B | ||
| 9359 | chr6 | 30707940 | C | T |
c.2639G>A
|
p.Ser880Asn
|
3.0 |
|
B | ||
| 28848 | chr6 | 30707991 | T | A |
c.2588A>T
|
p.Gln863Leu
|
- | 3.0 |
|
B | |
| 17279 | chr6 | 30708090 | G | A |
c.2489C>T
|
p.Pro830Leu
|
- | 3.0 |
|
B | |
| 13377 | chr6 | 30711398 | A | C |
c.2221+14T>G
|
-
|
- | 3.0 |
|
B | |
| 17076 | chr6 | 30711977 | TAG | T |
c.1963_1964del
|
p.Leu655ArgfsTer30
|
- | 3.0 |
|
B | |
| 23470 | chr6 | 30712080 | T | G |
c.1862A>C
|
p.His621Pro
|
- | 3.0 |
|
B | |
| 11019 | chr6 | 30712176 | G | A |
c.1766C>T
|
p.Ala589Val
|
- | 3.0 |
|
B | |
| 11020 | chr6 | 30712177 | C | A |
c.1765G>T
|
p.Ala589Ser
|
- | 3.0 |
|
B | |
| 14859 | chr6 | 30712245 | G | A |
c.1697C>T
|
p.Ser566Phe
|
- | 3.0 |
|
B | |
| 17281 | chr6 | 30712395 | G | A |
c.1547C>T
|
p.Ser516Phe
|
- | 3.0 |
|
B | |
| 14243 | chr6 | 30712570 | C | T |
c.1372G>A
|
p.Glu458Lys
|
- | 3.0 |
|
B | |
| 9862 | chr6 | 30712576 | C | G |
c.1366G>C
|
p.Asp456His
|
- | 3.0 |
|
B | |
| 7568 | chr6 | 30712599 | G | A |
c.1343C>T
|
p.Thr448Ile
|
- | 3.0 |
|
B | |
| 17282 | chr6 | 30712773 | G | A |
c.1169C>T
|
p.Pro390Leu
|
- | 3.0 |
|
B | |
| 3952 | chr6 | 30712791 | T | C |
c.1151A>G
|
p.Lys384Arg
|
- | 3.0 |
|
B | |
| 13257 | chr6 | 30712863 | C | T |
c.1079G>A
|
p.Gly360Asp
|
3.0 |
|
B | ||
| 14244 | chr6 | 30713038 | C | G |
c.904G>C
|
p.Asp302His
|
- | 3.0 |
|
B |