Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 20740 | chr6 | 117337344 | G | C |
c.5062-4C>G
|
-
|
- | 3.0 |
|
B | |
| 14456 | chr6 | 117341128 | A | G |
c.5061+7T>C
|
-
|
- | 3.0 |
|
B | |
| 8600 | chr6 | 117341146 | C | G |
c.5050G>C
|
p.Glu1684Gln
|
3.0 |
|
B | ||
| 6805 | chr6 | 117341226 | T | G |
c.4970A>C
|
p.Tyr1657Ser
|
- | 3.0 |
|
B | |
| 15934 | chr6 | 117341326 | G | C |
c.4885-15C>G
|
-
|
- | 3.0 |
|
B | |
| 17070 | chr6 | 117341527 | C | T |
c.4757G>A
|
p.Arg1586His
|
3.0 |
|
B | ||
| 7486 | chr6 | 117341540 | T | A |
c.4744A>T
|
p.Lys1582Ter
|
- | 3.0 |
|
B | |
| 13912 | chr6 | 117342498 | G | A |
c.4553C>T
|
p.Ser1518Leu
|
3.0 |
|
B | ||
| 2188 | chr6 | 117342498 | G | T |
c.4553C>A
|
p.Ser1518Ter
|
- | 3.0 |
|
B | |
| 22618 | chr6 | 117344044 | C | T |
c.4506+16G>A
|
-
|
3.0 |
|
B | ||
| 4369 | chr6 | 117344226 | T | C |
c.4340A>G
|
p.Glu1447Gly
|
- | 3.0 |
|
B | |
| 9340 | chr6 | 117352992 | G | T |
c.4301C>A
|
p.Pro1434Gln
|
- | 3.0 |
|
B | |
| 27946 | chr6 | 117353106 | T | C |
c.4187A>G
|
p.Lys1396Arg
|
- | 3.0 |
|
B | |
| 26909 | chr6 | 117353151 | C | A |
c.4142G>T
|
p.Ser1381Ile
|
- | 3.0 |
|
B | |
| 25762 | chr6 | 117353167 | C | T |
c.4127-1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 20957 | chr6 | 117353186 | G | A |
c.4127-20C>T
|
-
|
- | 3.0 |
|
B | |
| 9040 | chr6 | 117356767 | C | G |
c.3988G>C
|
p.Glu1330Gln
|
- | 3.0 |
|
B | |
| 7934 | chr6 | 117356796 | T | G |
c.3959A>C
|
p.Asn1320Thr
|
- | 3.0 |
|
B | |
| 28903 | chr6 | 117356892 | G | A |
c.3863C>T
|
p.Ser1288Phe
|
- | 3.0 |
|
B | |
| 476 | chr6 | 117356899 | C | T |
c.3856G>A
|
p.Glu1286Lys
|
3.0 |
|
B |