Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 23811 | chr1 | 120069404 | C | T |
c.3G>A
|
p.Met1?
|
3.0 |
|
B | ||
| 34874 | chr1 | 120069426 | T | A |
c.-20A>T
|
-
|
- | 3.0 |
|
B | |
| 16403 | chr1 | 145993860 | ATTG | A |
c.1164_1166del
|
p.Asn389del
|
3.0 |
|
B | ||
| 32161 | chr1 | 145994035 | G | A |
c.1121C>T
|
p.Pro374Leu
|
- | 3.0 |
|
B | |
| 10392 | chr1 | 145994151 | C | CAT |
c.1003_1004dup
|
p.Met335IlefsTer19
|
- | 3.0 |
|
B | |
| 15977 | chr1 | 145994186 | C | A |
c.989-19G>T
|
-
|
- | 3.0 |
|
B | |
| 33384 | chr1 | 145994323 | C | G |
c.946G>C
|
p.Glu316Gln
|
- | 3.0 |
|
B | |
| 10542 | chr1 | 145994323 | C | T |
c.946G>A
|
p.Glu316Lys
|
- | 3.0 |
|
B | |
| 12058 | chr1 | 145994324 | A | C |
c.945T>G
|
p.Ser315=
|
- | 3.0 |
|
B | |
| 26501 | chr1 | 145994582 | G | C |
c.793C>G
|
p.Leu265Val
|
- | 3.0 |
|
B | |
| 7704 | chr1 | 145994712 | G | GT |
c.662dup
|
p.Tyr221Ter
|
3.5 |
|
B | ||
| 23264 | chr1 | 145994796 | A | C |
c.579T>G
|
p.Asp193Glu
|
- | 3.0 |
|
B | |
| 34451 | chr1 | 145994798 | C | T |
c.577G>A
|
p.Asp193Asn
|
- | 3.0 |
|
B | |
| 7096 | chr1 | 145994941 | C | A |
c.562G>T
|
p.Gly188Ter
|
- | 3.5 |
|
B | |
| 28844 | chr1 | 145994977 | CATCAGGAAT | C |
c.517_525del
|
p.Ile173_Asp175del
|
- | 3.0 |
|
B | |
| 21444 | chr1 | 145995002 | TTTC | T |
c.498_500del
|
p.Lys167del
|
3.0 |
|
B | ||
| 28606 | chr1 | 145995435 | CAT | C |
c.290_291del
|
p.Tyr97Ter
|
- | 3.0 |
|
B | |
| 23150 | chr1 | 145996183 | AGCC | A |
c.81_83del
|
p.Ala28del
|
- | 3.0 |
|
B | |
| 16676 | chr1 | 145996209 | C | T |
c.58G>A
|
p.Val20Met
|
- | 3.0 |
|
B | |
| 34995 | chr1 | 145996228 | G | C |
c.39C>G
|
p.Val13=
|
- | 3.0 |
|
B |