Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 31760 | chr4 | 98881081 | C | A |
c.601G>T
|
p.Ala201Ser
|
- | 3.0 |
|
B | |
| 19577 | chr4 | 98885064 | TA | T |
c.400-4del
|
-
|
3.0 |
|
B | ||
| 21853 | chr4 | 98886461 | T | C |
c.399+618A>G
|
-
|
3.0 |
|
B | ||
| 30357 | chr4 | 98886482 | A | G |
c.399+597T>C
|
-
|
- | 3.0 |
|
B | |
| 4065 | chr4 | 99282560 | C | T |
c.614G>A
|
p.Gly205Asp
|
- | 3.0 |
|
B | |
| 4066 | chr4 | 99282570 | C | T |
c.604G>A
|
p.Gly202Arg
|
- | 3.0 |
|
B | |
| 4067 | chr4 | 102021530 | T | G |
c.1223T>G
|
p.Ile408Arg
|
- | 3.0 |
|
B | |
| 19190 | chr4 | 102529835 | G | A |
c.40-1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 10248 | chr4 | 102529878 | C | T |
c.82C>T
|
p.Pro28Ser
|
3.0 |
|
B | ||
| 21439 | chr4 | 102529911 | A | T |
c.115A>T
|
p.Thr39Ser
|
- | 3.0 |
|
B | |
| 34892 | chr4 | 102566975 | C | T |
c.259-12C>T
|
-
|
- | 3.0 |
|
B | |
| 25732 | chr4 | 102567045 | A | G |
c.317A>G
|
p.Asn106Ser
|
- | 3.0 |
|
B | |
| 6611 | chr4 | 102578876 | C | T |
c.572-5C>T
|
-
|
3.0 |
|
B | ||
| 6612 | chr4 | 102578877 | C | T |
c.572-4C>T
|
-
|
- | 3.0 |
|
B | |
| 1517 | chr4 | 102579050 | C | T |
c.730+11C>T
|
-
|
3.0 |
|
B | ||
| 16512 | chr4 | 102582935 | C | T |
c.905C>T
|
p.Ser302Phe
|
- | 3.0 |
|
B | |
| 21257 | chr4 | 102593579 | A | T |
c.1210+11A>T
|
-
|
- | 3.0 |
|
B | |
| 33944 | chr4 | 102607215 | G | A |
c.2020G>A
|
p.Ala674Thr
|
3.0 |
|
B | ||
| 30106 | chr4 | 102607302 | G | A |
c.2107G>A
|
p.Gly703Ser
|
- | 3.0 |
|
B | |
| 12947 | chr4 | 102607769 | C | T |
c.2227+18C>T
|
-
|
2.0 |
|
B |