Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 10546 | chr14 | 37592108 | C | T |
-
c.676G>A
|
-
p.Asp226Asn
|
3.5 |
|
B | ||
| 26045 | chr14 | 37592129 | G | T |
-
c.655C>A
|
-
p.Arg219Ser
|
- | 3.5 |
|
B | |
| 8967 | chr14 | 37592256 | G | C |
-
c.528C>G
|
-
p.Ile176Met
|
- | 3.5 |
|
B | |
| 16207 | chr14 | 37592264 | A | C |
-
c.520T>G
|
-
p.Ser174Ala
|
- | 3.0 |
|
B | |
| 2559 | chr14 | 37592284 | G | A |
-
c.500C>T
|
-
p.Pro167Leu
|
- | 3.0 |
|
B | |
| 23590 | chr14 | 37592318 | C | T |
-
c.466G>A
|
-
p.Gly156Ser
|
3.0 |
|
B | ||
| 4267 | chr14 | 37592349 | C | T |
-
c.435G>A
|
-
p.Pro145=
|
3.0 |
|
B | ||
| 28147 | chr14 | 37592441 | C | A |
-
c.343G>T
|
-
p.Ala115Ser
|
- | 3.0 |
|
B | |
| 28242 | chr14 | 37592458 | C | G |
-
c.326G>C
|
-
p.Ser109Thr
|
- | 3.0 |
|
B | |
| 2460 | chr14 | 37592524 | C | T |
-
c.260G>A
|
-
p.Gly87Glu
|
3.0 |
|
B | ||
| 20124 | chr14 | 37592533 | C | A |
-
c.251G>T
|
-
p.Gly84Val
|
- | 3.0 |
|
B | |
| 23078 | chr14 | 37592547 | G | A |
-
c.237C>T
|
-
p.Pro79=
|
3.0 |
|
B | ||
| 30650 | chr14 | 37592590 | T | C |
-
c.194A>G
|
-
p.Asn65Ser
|
3.0 |
|
B | ||
| 1456 | chr14 | 37594912 | C | T |
-
c.61G>A
|
-
p.Asp21Asn
|
- | 3.0 |
|
B | |
| 2791 | chr14 | 37787475 | C | T |
c.3274C>T
|
p.Arg1092Ter
|
3.0 |
|
B | ||
| 17368 | chr14 | 38209424 | C | T |
c.35C>T
|
p.Ser12Phe
|
3.0 |
|
B | ||
| 35498 | chr14 | 38209544 | G | T |
c.155G>T
|
p.Ser52Ile
|
- | 3.0 |
|
B | |
| 15947 | chr14 | 38209573 | T | C |
c.184T>C
|
p.Ser62Pro
|
- | 3.0 |
|
B | |
| 23990 | chr14 | 38209702 | G | GA |
c.314dup
|
p.Leu106AlafsTer144
|
- | 3.0 |
|
B | |
| 20817 | chr14 | 38209716 | C | T |
c.327C>T
|
p.Leu109=
|
3.0 |
|
B |