Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 30257 | chr1 | 156881562 | C | T |
c.2311C>T
|
p.Arg771Cys
|
3.5 |
|
B | ||
| 33935 | chr1 | 156881583 | C | T |
c.2332C>T
|
p.His778Tyr
|
- | 3.0 |
|
B | |
| 16887 | chr1 | 157587398 | G | A |
c.725C>T
|
p.Thr242Met
|
3.0 |
|
B | ||
| 3379 | chr1 | 157767387 | G | A |
c.1006C>T
|
p.His336Tyr
|
- | 3.0 |
|
B | |
| 4943 | chr1 | 158183159 | G | A |
c.886+3G>A
|
-
|
- | 3.0 |
|
B | |
| 33301 | chr1 | 158606601 | C | G |
-
c.163C>G
|
-
p.Leu55Val
|
- | 3.0 |
|
B | |
| 30410 | chr1 | 158606931 | C | T |
-
c.493C>T
|
-
p.His165Tyr
|
- | 3.0 |
|
B | |
| 786 | chr1 | 158611310 | G | A |
c.7214C>T
c.*3930G>A
|
p.Ser2405Phe
-
|
- | 3.0 |
|
B | |
| 28679 | chr1 | 158611325 | C | T |
c.7199G>A
c.*3945C>T
|
p.Gly2400Asp
-
|
3.0 |
|
B | ||
| 28607 | chr1 | 158611329 | G | A |
c.7195C>T
c.*3949G>A
|
p.Arg2399Trp
-
|
3.0 |
|
B | ||
| 12147 | chr1 | 158612814 | G | A |
c.7134+3C>T
-
|
-
-
|
- | 3.0 |
|
B | |
| 25658 | chr1 | 158612900 | T | A |
c.7051A>T
-
|
p.Ile2351Phe
-
|
- | 3.0 |
|
B | |
| 31743 | chr1 | 158612933 | T | C |
c.7018A>G
-
|
p.Thr2340Ala
-
|
- | 3.0 |
|
B | |
| 34550 | chr1 | 158612951 | C | A |
c.7000G>T
-
|
p.Val2334Phe
-
|
- | 3.0 |
|
B | |
| 25563 | chr1 | 158612968 | G | C |
c.6990-7C>G
-
|
-
-
|
- | 3.0 |
|
B | |
| 30530 | chr1 | 158613710 | C | T |
c.6989+11G>A
-
|
-
-
|
- | 3.0 |
|
B | |
| 22032 | chr1 | 158613721 | C | G |
c.6989G>C
-
|
p.Arg2330Thr
-
|
- | 3.0 |
|
B | |
| 4957 | chr1 | 158613770 | C | A |
c.6940G>T
-
|
p.Glu2314Ter
-
|
- | 3.0 |
|
B | |
| 6983 | chr1 | 158613864 | G | C |
c.6846C>G
-
|
p.His2282Gln
-
|
3.0 |
|
B | ||
| 18507 | chr1 | 158613884 | G | GA |
c.6843-18dup
-
|
-
-
|
2.5 |
|
B |