Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 29768 | chr6 | 31865328 | G | A |
c.1747C>T
-
|
p.Arg583Ter
-
|
3.0 |
|
B | ||
| 8544 | chr6 | 31865341 | G | C |
c.1734C>G
-
|
p.Phe578Leu
-
|
- | 3.0 |
|
B | |
| 29288 | chr6 | 31865514 | C | T |
c.1670G>A
-
|
p.Arg557His
-
|
3.0 |
|
B | ||
| 576 | chr6 | 31865699 | TGTG | T |
c.1570_1572del
-
|
p.His524del
-
|
- | 3.0 |
|
B | |
| 29556 | chr6 | 31865738 | C | G |
c.1534G>C
-
|
p.Val512Leu
-
|
3.0 |
|
B | ||
| 13144 | chr6 | 31865872 | C | T |
c.1487+1G>A
-
|
p.?
-
|
- | 3.0 |
|
B | |
| 25286 | chr6 | 31865903 | G | A |
c.1457C>T
-
|
p.Pro486Leu
-
|
3.0 |
|
B | ||
| 10087 | chr6 | 31865970 | C | T |
c.1390G>A
-
|
p.Val464Ile
-
|
3.0 |
|
B | ||
| 9915 | chr6 | 31865988 | G | T |
c.1372C>A
-
|
p.Leu458Met
-
|
- | 3.0 |
|
B | |
| 30938 | chr6 | 31869546 | G | C |
c.1129C>G
|
p.Leu377Val
|
- | 3.0 |
|
B | |
| 2042 | chr6 | 31869574 | G | C |
c.1101C>G
|
p.Ile367Met
|
- | 3.0 |
|
B | |
| 27623 | chr6 | 31869625 | C | A |
c.1050G>T
|
p.Gln350His
|
- | 3.0 |
|
B | |
| 24553 | chr6 | 31870856 | T | C |
c.893A>G
|
p.Asn298Ser
|
- | 3.0 |
|
B | |
| 30831 | chr6 | 31870911 | A | T |
c.838T>A
|
p.Tyr280Asn
|
- | 3.0 |
|
B | |
| 20325 | chr6 | 31870947 | C | T |
c.802G>A
|
p.Val268Met
|
3.0 |
|
B | ||
| 18784 | chr6 | 31874534 | G | A |
c.469-14C>T
|
-
|
- | 3.0 |
|
B | |
| 17286 | chr6 | 31874539 | G | A |
c.469-19C>T
|
-
|
- | 3.0 |
|
B | |
| 18 | chr6 | 31875030 | T | G |
-
c.243-2A>C
|
-
p.?
|
- | 3.0 |
|
B | |
| 32861 | chr6 | 31875043 | G | A |
-
c.243-15C>T
|
-
-
|
3.0 |
|
B | ||
| 11900 | chr6 | 31877057 | G | A |
-
c.66C>T
|
-
p.Ser22=
|
- | 3.0 |
|
B |