Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 21242 | chr18 | 79451776 | C | T |
c.1863C>T
|
p.Phe621=
|
- | 3.0 |
|
B | |
| 11228 | chr18 | 79461365 | C | T |
c.1958C>T
|
p.Pro653Leu
|
3.0 |
|
B | ||
| 24585 | chr18 | 79486237 | C | T |
c.2093-11C>T
|
-
|
3.0 |
|
B | ||
| 23838 | chr18 | 79486388 | G | C |
c.2233G>C
|
p.Val745Leu
|
3.0 |
|
B | ||
| 31046 | chr18 | 79486487 | A | T |
c.2332A>T
|
p.Lys778Ter
|
- | 3.0 |
|
B | |
| 25744 | chr18 | 79486491 | G | A |
c.2336G>A
|
p.Gly779Asp
|
- | 3.0 |
|
B | |
| 32295 | chr18 | 79486639 | G | A |
c.2484G>A
|
p.Ala828=
|
3.0 |
|
B | ||
| 24626 | chr18 | 79486763 | C | A |
c.2608C>A
|
p.Pro870Thr
|
- | 3.0 |
|
B | |
| 5266 | chr19 | 372692 | G | A |
c.574C>T
|
p.Arg192Cys
|
3.0 |
|
B | ||
| 11132 | chr19 | 547286 | C | G |
c.62C>G
|
p.Ser21Cys
|
- | 3.0 |
|
B | |
| 3727 | chr19 | 615946 | CCCG | C |
-
c.2162_2164del
|
-
p.Pro721del
|
3.0 |
|
B | ||
| 3558 | chr19 | 758069 | G | A |
c.1123G>A
|
p.Ala375Thr
|
3.0 |
|
B | ||
| 2972 | chr19 | 852338 | G | A |
c.10G>A
-
|
p.Gly4Ser
-
|
3.0 |
|
B | ||
| 24693 | chr19 | 852344 | C | A |
c.16C>A
-
|
p.Arg6=
-
|
1.5 |
|
B | ||
| 25296 | chr19 | 852361 | C | T |
c.33C>T
-
|
p.Phe11=
-
|
- | 2.5 |
|
B | |
| 34194 | chr19 | 852885 | T | C |
c.77T>C
-
|
p.Leu26Pro
-
|
3.0 |
|
B | ||
| 14992 | chr19 | 852931 | G | A |
c.123G>A
-
|
p.Trp41Ter
-
|
- | 3.0 |
|
B | |
| 14662 | chr19 | 853249 | C | T |
c.225-13C>T
|
-
|
3.0 |
|
B | ||
| 26476 | chr19 | 853419 | G | GT |
c.366+16_366+17insT
|
-
|
- | 3.0 |
|
B | |
| 28335 | chr19 | 855556 | C | T |
c.367-8C>T
-
|
-
-
|
2.0 |
|
B |