Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 13235 | chr5 | 180618839 | C | T |
c.2932G>A
|
p.Asp978Asn
|
3.0 |
|
B | ||
| 904 | chr5 | 180619340 | C | A |
c.2674G>T
|
p.Ala892Ser
|
3.0 |
|
B | ||
| 5093 | chr5 | 180619344 | G | C |
c.2670C>G
|
p.His890Gln
|
1.0 |
|
B | ||
| 34584 | chr5 | 180619670 | A | G |
c.2642T>C
|
p.Leu881Pro
|
- | 3.0 |
|
B | |
| 17930 | chr5 | 180619774 | C | T |
c.2543-5G>A
|
-
|
3.0 |
|
B | ||
| 15413 | chr5 | 180620248 | G | C |
c.2467C>G
|
p.Pro823Ala
|
- | 3.0 |
|
B | |
| 6894 | chr5 | 180620312 | C | T |
c.2407-4G>A
|
-
|
3.0 |
|
B | ||
| 14396 | chr5 | 180620686 | C | T |
c.2329G>A
|
p.Val777Met
|
- | 3.0 |
|
B | |
| 8121 | chr5 | 180620888 | C | T |
c.2287G>A
|
p.Val763Met
|
- | 3.0 |
|
B | |
| 29781 | chr5 | 180620959 | C | T |
c.2216G>A
|
p.Arg739His
|
3.0 |
|
B | ||
| 27128 | chr5 | 180621000 | G | C |
c.2175C>G
|
p.Asp725Glu
|
- | 3.0 |
|
B | |
| 6319 | chr5 | 180621015 | G | A |
c.2168-8C>T
|
-
|
- | 3.0 |
|
B | |
| 26265 | chr5 | 180621094 | C | T |
c.2167+12G>A
|
-
|
- | 3.0 |
|
B | |
| 24327 | chr5 | 180621220 | T | A |
c.2053A>T
|
p.Thr685Ser
|
- | 3.0 |
|
B | |
| 34855 | chr5 | 180621231 | G | A |
c.2042C>T
|
p.Thr681Met
|
3.0 |
|
B | ||
| 32923 | chr5 | 180621260 | C | A |
c.2021-8G>T
|
-
|
3.0 |
|
B | ||
| 18782 | chr5 | 180621531 | G | A |
c.2020+11C>T
|
-
|
3.0 |
|
B | ||
| 10826 | chr5 | 180621587 | G | A |
c.1975C>T
|
p.Arg659Cys
|
- | 3.0 |
|
B | |
| 3799 | chr5 | 180621626 | C | T |
c.1936G>A
|
p.Glu646Lys
|
2.5 |
|
B | ||
| 27448 | chr5 | 180621754 | C | T |
c.1808G>A
|
p.Gly603Glu
|
- | 3.0 |
|
B |