Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 31441 | chr6 | 43780837 | G | A |
c.1034+34G>A
|
-
|
- | 3.0 |
|
B | |
| 27975 | chr6 | 43784540 | G | C |
c.1167-1G>C
|
p.?
|
- | 3.0 |
|
B | |
| 12723 | chr6 | 44219731 | G | A |
-
-
|
-
-
|
- | 3.0 |
|
B | |
| 34015 | chr6 | 44223641 | G | T |
c.-52G>T
|
-
|
- | 3.0 |
|
B | |
| 5381 | chr6 | 44229694 | C | T |
c.217C>T
|
p.Arg73Trp
|
3.0 |
|
B | ||
| 26357 | chr6 | 44230421 | A | G |
c.529A>G
|
p.Met177Val
|
- | 3.0 |
|
B | |
| 34335 | chr6 | 44230893 | C | T |
c.766+4C>T
|
-
|
3.0 |
|
B | ||
| 6775 | chr6 | 44231412 | A | C |
c.815A>C
|
p.Asn272Thr
|
3.0 |
|
B | ||
| 25625 | chr6 | 44231439 | C | T |
c.842C>T
|
p.Ser281Phe
|
3.0 |
|
B | ||
| 30120 | chr6 | 44232047 | G | A |
c.914G>A
|
p.Gly305Glu
|
- | 3.0 |
|
B | |
| 20954 | chr6 | 44232342 | G | A |
c.974-1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 31147 | chr6 | 44232390 | G | C |
c.1021G>C
|
p.Asp341His
|
- | 3.0 |
|
B | |
| 22497 | chr6 | 44232967 | A | G |
c.1220A>G
|
p.Asn407Ser
|
- | 3.0 |
|
B | |
| 6604 | chr6 | 44249773 | T | A |
c.453T>A
-
|
p.Asp151Glu
-
|
- | 3.0 |
|
B | |
| 15578 | chr6 | 44250010 | G | C |
c.515-11G>C
-
|
-
-
|
- | 3.0 |
|
B | |
| 8918 | chr6 | 44250502 | C | A |
c.860C>A
-
|
p.Pro287His
-
|
- | 3.0 |
|
B | |
| 24644 | chr6 | 44250540 | G | T |
c.898G>T
-
|
p.Glu300Ter
-
|
- | 3.0 |
|
B | |
| 10870 | chr6 | 44250606 | G | A |
c.957+7G>A
-
|
-
-
|
3.0 |
|
B | ||
| 24645 | chr6 | 44251469 | G | A |
c.1175G>A
-
|
p.Arg392Gln
-
|
- | 3.0 |
|
B | |
| 14152 | chr6 | 44251564 | G | A |
c.1270G>A
-
|
p.Glu424Lys
-
|
- | 3.0 |
|
B |