Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 5031 | chr4 | 55107744 | C | T |
c.1405G>A
|
p.Glu469Lys
|
3.0 |
|
B | ||
| 13032 | chr4 | 55107778 | G | C |
c.1371C>G
|
p.His457Gln
|
- | 3.0 |
|
B | |
| 8771 | chr4 | 55107837 | C | T |
c.1312G>A
|
p.Gly438Ser
|
3.0 |
|
B | ||
| 6257 | chr4 | 55110415 | G | T |
c.1243C>A
|
p.Leu415Met
|
- | 3.0 |
|
B | |
| 34815 | chr4 | 55110522 | G | A |
c.1136C>T
|
p.Ala379Val
|
3.0 |
|
B | ||
| 1176 | chr4 | 55110706 | G | C |
c.1039C>G
|
p.Arg347Gly
|
- | 3.0 |
|
B | |
| 33348 | chr4 | 55110706 | G | T |
c.1039C>A
|
p.Arg347Ser
|
- | 3.0 |
|
B | |
| 4005 | chr4 | 55110775 | G | T |
c.977-7C>A
|
-
|
3.0 |
|
B | ||
| 31140 | chr4 | 55110780 | T | A |
c.977-12A>T
|
-
|
3.0 |
|
B | ||
| 778 | chr4 | 55113312 | C | A |
c.968G>T
|
p.Arg323Met
|
- | 3.0 |
|
B | |
| 12558 | chr4 | 55113312 | C | G |
c.968G>C
|
p.Arg323Thr
|
3.0 |
|
B | ||
| 8929 | chr4 | 55113329 | C | G |
c.951G>C
|
p.Lys317Asn
|
- | 3.0 |
|
B | |
| 1500 | chr4 | 55113478 | G | A |
c.802C>T
|
p.Gln268Ter
|
- | 3.0 |
|
B | |
| 15324 | chr4 | 55114909 | C | G |
c.623G>C
|
p.Ser208Thr
|
- | 3.0 |
|
B | |
| 32928 | chr4 | 55114965 | G | C |
c.567C>G
|
p.Ser189Arg
|
- | 3.0 |
|
B | |
| 18826 | chr4 | 55115015 | C | A |
c.517G>T
|
p.Asp173Tyr
|
- | 3.0 |
|
B | |
| 19985 | chr4 | 55115283 | C | A |
c.487G>T
|
p.Ala163Ser
|
- | 3.0 |
|
B | |
| 32911 | chr4 | 55115336 | G | T |
c.434C>A
|
p.Thr145Asn
|
- | 3.0 |
|
B | |
| 29176 | chr4 | 55118652 | A | G |
c.310T>C
|
p.Phe104Leu
|
3.0 |
|
B | ||
| 8383 | chr4 | 55118792 | C | T |
c.170G>A
|
p.Arg57Lys
|
3.0 |
|
B |