Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 5769 | chr6 | 134261935 | C | T |
c.283G>A
|
p.Glu95Lys
|
- | 3.0 |
|
B | |
| 7922 | chr6 | 134261977 | G | A |
c.241C>T
|
p.Gln81Ter
|
- | 3.0 |
|
B | |
| 10254 | chr6 | 134262138 | C | T |
c.80G>A
|
p.Trp27Ter
|
- | 3.0 |
|
B | |
| 11021 | chr6 | 134317390 | A | C |
c.69+2T>G
|
p.?
|
- | 3.0 |
|
B | |
| 2043 | chr6 | 135190322 | GA | G |
c.505del
|
p.Ile169SerfsTer52
|
- | 3.0 |
|
B | |
| 2044 | chr6 | 135190327 | C | CG |
c.508dup
|
p.Ala170GlyfsTer9
|
- | 3.0 |
|
B | |
| 24027 | chr6 | 135192365 | G | T |
c.569G>T
|
p.Arg190Leu
|
- | 3.0 |
|
B | |
| 10129 | chr6 | 135193917 | A | G |
c.842A>G
|
p.Gln281Arg
|
- | 3.0 |
|
B | |
| 35515 | chr6 | 135195770 | AC | A |
c.975del
|
p.Trp327GlyfsTer49
|
- | 3.0 |
|
B | |
| 20958 | chr6 | 135195836 | C | T |
c.1037C>T
|
p.Ser346Phe
|
3.0 |
|
B | ||
| 8450 | chr6 | 135196010 | G | A |
c.1203+8G>A
|
-
|
- | 3.0 |
|
B | |
| 23389 | chr6 | 135196946 | C | T |
c.1204-15C>T
|
-
|
3.0 |
|
B | ||
| 19472 | chr6 | 135197199 | GA | G |
c.1449del
|
p.Lys483AsnfsTer8
|
- | 3.0 |
|
B | |
| 21424 | chr6 | 135197327 | G | C |
c.1566+4G>C
|
-
|
- | 3.0 |
|
B | |
| 1031 | chr6 | 135199010 | C | A |
c.1669C>A
|
p.His557Asn
|
- | 3.0 |
|
B | |
| 33456 | chr6 | 135200159 | T | A |
c.1784T>A
|
p.Leu595His
|
- | 3.0 |
|
B | |
| 27870 | chr6 | 135200283 | C | T |
c.1825-7C>T
|
-
|
3.0 |
|
B | ||
| 3033 | chr6 | 135200408 | A | G |
c.1943A>G
|
p.Lys648Arg
|
3.0 |
|
B | ||
| 11948 | chr6 | 135200423 | C | T |
c.1950+8C>T
|
-
|
3.0 |
|
B | ||
| 34591 | chr6 | 135202497 | A | T |
c.2062-720A>T
|
-
|
3.0 |
|
B |