Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 30301 | chr1 | 45012255 | G | C |
-
-
c.-11G>C
|
-
-
-
|
- | 3.0 |
|
B | |
| 30932 | chr1 | 45012888 | A | C |
-
-
c.21-19A>C
|
-
-
-
|
3.0 |
|
B | ||
| 6473 | chr1 | 45012953 | G | A |
-
-
c.67G>A
|
-
-
p.Ala23Thr
|
- | 3.0 |
|
B | |
| 21721 | chr1 | 45013180 | C | T |
-
-
c.178C>T
|
-
-
p.Arg60Cys
|
3.0 |
|
B | ||
| 529 | chr1 | 45013189 | G | A |
-
-
c.187G>A
|
-
-
p.Glu63Lys
|
3.0 |
|
B | ||
| 12792 | chr1 | 45013586 | C | T |
-
-
c.277-8C>T
|
-
-
-
|
3.0 |
|
B | ||
| 16672 | chr1 | 45013606 | G | A |
-
-
c.289G>A
|
-
-
p.Glu97Lys
|
- | 3.0 |
|
B | |
| 4566 | chr1 | 45013727 | C | T |
-
-
c.410C>T
|
-
-
p.Ala137Val
|
- | 3.0 |
|
B | |
| 16170 | chr1 | 45013788 | C | A |
-
-
c.471C>A
|
-
-
p.Ala157=
|
3.0 |
|
B | ||
| 21498 | chr1 | 45013970 | G | A |
-
-
c.536G>A
|
-
-
p.Arg179His
|
3.0 |
|
B | ||
| 21499 | chr1 | 45014524 | C | T |
-
-
c.722C>T
|
-
-
p.Ala241Val
|
- | 3.0 |
|
B | |
| 14908 | chr1 | 45015389 | G | A |
-
-
c.995G>A
|
-
-
p.Arg332His
|
3.0 |
|
B | ||
| 34168 | chr1 | 45015421 | C | G |
-
-
c.1027C>G
|
-
-
p.Pro343Ala
|
3.0 |
|
B | ||
| 35076 | chr1 | 45329432 | G | T |
c.1440C>A
-
|
p.Ser480=
-
|
- | 2.5 |
|
B | |
| 7954 | chr1 | 45331233 | C | G |
c.1341G>C
-
|
p.Trp447Cys
-
|
- | 3.0 |
|
B | |
| 33111 | chr1 | 45331415 | C | G |
c.1239+5G>C
-
|
-
-
|
- | 3.0 |
|
B | |
| 18432 | chr1 | 45331491 | T | C |
c.1168A>G
-
|
p.Lys390Glu
-
|
2.5 |
|
B | ||
| 15697 | chr1 | 45331697 | C | T |
c.1066G>A
-
|
p.Gly356Arg
-
|
- | 3.0 |
|
B | |
| 25748 | chr1 | 45332239 | G | A |
c.776C>T
-
|
p.Ala259Val
-
|
- | 3.0 |
|
B | |
| 34812 | chr1 | 45332376 | A | T |
c.704+15T>A
-
|
-
-
|
- | 3.0 |
|
B |