Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 12588 | chr3 | 12406092 | T | G |
c.729+11T>G
|
-
|
- | 3.0 |
|
B | |
| 29615 | chr3 | 12416687 | C | T |
c.730-17C>T
|
-
|
3.0 |
|
B | ||
| 22479 | chr3 | 12416803 | A | T |
c.829A>T
|
p.Ile277Phe
|
- | 3.0 |
|
B | |
| 31811 | chr3 | 12416824 | C | G |
c.850C>G
|
p.Gln284Glu
|
- | 3.0 |
|
B | |
| 15432 | chr3 | 12417037 | C | T |
c.1063C>T
|
p.Arg355Ter
|
4.5 |
|
B | ||
| 34886 | chr3 | 12434029 | A | T |
c.1312A>T
|
p.Thr438Ser
|
- | 3.0 |
|
B | |
| 25457 | chr3 | 12434080 | A | G |
c.1363A>G
|
p.Lys455Glu
|
- | 3.0 |
|
B | |
| 6210 | chr3 | 12584514 | C | G |
c.1947G>C
-
|
p.Ter649TyrextTer42
-
|
- | 3.0 |
|
B | |
| 5923 | chr3 | 12584598 | G | A |
c.1863C>T
-
|
p.Ser621=
-
|
2.0 |
|
B | ||
| 23281 | chr3 | 12584837 | T | G |
c.1803+10A>C
-
|
-
-
|
- | 3.0 |
|
B | |
| 18512 | chr3 | 12585118 | T | G |
c.1668+4A>C
-
|
-
-
|
- | 3.0 |
|
B | |
| 19042 | chr3 | 12585129 | C | T |
c.1661G>A
-
|
p.Arg554Gln
-
|
- | 3.0 |
|
B | |
| 20992 | chr3 | 12585247 | C | T |
c.1543G>A
-
|
p.Glu515Lys
-
|
- | 3.0 |
|
B | |
| 13896 | chr3 | 12585718 | T | G |
c.1499A>C
-
|
p.Gln500Pro
-
|
- | 3.0 |
|
B | |
| 22847 | chr3 | 12585721 | G | A |
c.1496C>T
-
|
p.Ser499Phe
-
|
- | 3.0 |
|
B | |
| 151 | chr3 | 12590889 | T | C |
c.1279A>G
|
p.Ser427Gly
|
5.0 |
|
B | ||
| 34571 | chr3 | 12590946 | A | C |
c.1222T>G
|
p.Phe408Val
|
- | 3.0 |
|
B | |
| 26639 | chr3 | 12600167 | C | A |
c.975G>T
|
p.Gln325His
|
- | 3.0 |
|
B | |
| 152 | chr3 | 12604194 | G | A |
c.776C>T
|
p.Ser259Phe
|
5.0 |
|
B | ||
| 4160 | chr3 | 12604200 | G | A |
c.770C>T
|
p.Ser257Leu
|
5.0 |
|
B |