Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 14804 | chr22 | 19187572 | C | T |
c.4591G>A
|
p.Asp1531Asn
|
- | 3.0 |
|
B | |
| 20434 | chr22 | 19187740 | G | A |
c.4435-12C>T
|
-
|
- | 3.0 |
|
B | |
| 31073 | chr22 | 19191297 | G | A |
c.4323+7C>T
|
-
|
- | 3.0 |
|
B | |
| 13778 | chr22 | 19191304 | C | T |
c.4323G>A
|
p.Lys1441=
|
- | 3.0 |
|
B | |
| 19241 | chr22 | 19199841 | C | G |
c.3766G>C
|
p.Val1256Leu
|
- | 3.0 |
|
B | |
| 29737 | chr22 | 19201497 | C | A |
c.3601-4G>T
|
-
|
- | 3.0 |
|
B | |
| 18346 | chr22 | 19201499 | G | A |
c.3601-6C>T
|
-
|
- | 3.0 |
|
B | |
| 12421 | chr22 | 19208170 | T | C |
c.3584A>G
|
p.Asn1195Ser
|
1.0 |
|
B | ||
| 18733 | chr22 | 19208297 | G | C |
c.3457C>G
|
p.Leu1153Val
|
3.0 |
|
B | ||
| 31383 | chr22 | 19209014 | T | C |
c.3350A>G
|
p.Gln1117Arg
|
- | 3.0 |
|
B | |
| 12418 | chr22 | 19210439 | G | A |
c.3136C>T
|
p.Arg1046Cys
|
1.0 |
|
B | ||
| 18476 | chr22 | 19216252 | AC | A |
c.2923del
|
p.Val975TyrfsTer22
|
- | 4.0 |
|
B | |
| 13054 | chr22 | 19219935 | C | A |
c.2869G>T
|
p.Ala957Ser
|
- | 3.0 |
|
B | |
| 20826 | chr22 | 19222810 | C | T |
c.2293-1G>A
|
p.?
|
- | 4.0 |
|
B | |
| 29678 | chr22 | 19223883 | G | A |
c.2292+8C>T
|
-
|
- | 3.0 |
|
B | |
| 25973 | chr22 | 19225434 | G | A |
c.2128+19C>T
|
-
|
3.0 |
|
B | ||
| 26012 | chr22 | 19225615 | C | A |
c.1966G>T
|
p.Gly656Cys
|
3.0 |
|
B | ||
| 18862 | chr22 | 19226256 | T | G |
c.1910A>C
|
p.Lys637Thr
|
- | 3.0 |
|
B | |
| 31227 | chr22 | 19226368 | G | T |
c.1798C>A
|
p.Leu600Ile
|
- | 3.0 |
|
B | |
| 27658 | chr22 | 19229988 | C | T |
c.1645-13G>A
|
-
|
- | 3.0 |
|
B |