Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 18301 | chr6 | 117404395 | G | A |
c.350C>T
|
p.Ser117Phe
|
3.0 |
|
B | ||
| 15767 | chr6 | 117414542 | CATTCTGCATAGAAA | C |
c.229-11_231del
|
p.?
|
- | 3.0 |
|
B | |
| 12725 | chr6 | 117414553 | G | GA |
c.229-9dup
|
-
|
3.0 |
|
B | ||
| 13632 | chr6 | 117414553 | GA | G |
c.229-9del
|
-
|
1.0 |
|
B | ||
| 23814 | chr6 | 117414565 | G | A |
c.229-20C>T
|
-
|
3.0 |
|
B | ||
| 13840 | chr6 | 117416260 | A | G |
c.226T>C
|
p.Cys76Arg
|
3.0 |
|
B | ||
| 11473 | chr6 | 117425543 | T | G |
c.114A>C
|
p.Val38=
|
- | 3.0 |
|
B | |
| 830 | chr6 | 117425547 | CACG | C |
c.107_109del
|
p.Ser36del
|
- | 3.0 |
|
B | |
| 18578 | chr6 | 117425595 | C | T |
c.62G>A
|
p.Trp21Ter
|
- | 3.0 |
|
B | |
| 20224 | chr6 | 117563398 | G | GA |
c.1259-15dup
|
-
|
3.0 |
|
B | ||
| 24414 | chr6 | 117566917 | C | G |
c.1195G>C
|
p.Glu399Gln
|
- | 3.0 |
|
B | |
| 24299 | chr6 | 117573492 | C | T |
c.791G>A
|
p.Arg264Gln
|
- | 3.0 |
|
B | |
| 17868 | chr6 | 117575358 | T | C |
c.475-6A>G
|
-
|
3.0 |
|
B | ||
| 22871 | chr6 | 117577453 | C | T |
c.469G>A
|
p.Glu157Lys
|
- | 3.0 |
|
B | |
| 23705 | chr6 | 117602111 | C | T |
c.178G>A
|
p.Ala60Thr
|
- | 3.0 |
|
B | |
| 20000 | chr6 | 117602218 | GC | G |
c.70del
|
p.Ala24ProfsTer47
|
- | 3.0 |
|
B | |
| 12273 | chr6 | 117602225 | C | G |
c.64G>C
|
p.Val22Leu
|
3.0 |
|
B | ||
| 12602 | chr6 | 123218678 | G | A |
c.2113C>T
|
p.Pro705Ser
|
3.0 |
|
B | ||
| 19469 | chr6 | 123221531 | T | TA |
c.2015-10dup
|
-
|
2.5 |
|
B | ||
| 24910 | chr6 | 123224075 | C | A |
c.2014+18G>T
|
-
|
3.0 |
|
B |