Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 12136 | chr11 | 47573269 | C | G |
c.1266G>C
c.*1640C>G
|
p.Glu422Asp
-
|
- | 3.0 |
|
B | |
| 11599 | chr11 | 47573597 | C | CGCCGTG |
c.932_937dup
-
|
p.Pro311_Arg312dup
-
|
- | 3.0 |
|
B | |
| 27262 | chr11 | 47575719 | G | T |
c.638-20C>A
-
-
|
-
-
-
|
- | 3.0 |
|
B | |
| 25889 | chr11 | 47578619 | G | C |
c.19+314C>G
-
|
-
-
|
- | 3.0 |
|
B | |
| 19208 | chr11 | 48112933 | A | C |
c.302A>C
|
p.Gln101Pro
|
- | 3.0 |
|
B | |
| 12526 | chr11 | 48112963 | A | C |
c.332A>C
|
p.Gln111Pro
|
3.0 |
|
B | ||
| 16449 | chr11 | 48121237 | G | A |
c.587G>A
|
p.Gly196Glu
|
- | 3.0 |
|
B | |
| 27669 | chr11 | 48121275 | A | C |
c.616+9A>C
|
-
|
- | 3.0 |
|
B | |
| 35019 | chr11 | 48123628 | C | T |
c.632C>T
|
p.Ser211Phe
|
- | 3.0 |
|
B | |
| 13003 | chr11 | 48130467 | C | T |
c.1366C>T
|
p.Pro456Ser
|
3.0 |
|
B | ||
| 11167 | chr11 | 48136985 | C | CT |
c.1874-10dup
|
-
|
2.5 |
|
B | ||
| 32977 | chr11 | 48139618 | C | T |
c.2285C>T
|
p.Ala762Val
|
2.5 |
|
B | ||
| 33108 | chr11 | 48145007 | G | A |
c.2794G>A
|
p.Val932Met
|
- | 3.0 |
|
B | |
| 15889 | chr11 | 48149989 | G | C |
c.3042-1G>C
|
p.?
|
- | 3.0 |
|
B | |
| 15420 | chr11 | 48150200 | A | G |
c.3138+17A>G
|
-
|
- | 3.0 |
|
B | |
| 26103 | chr11 | 48155825 | C | T |
c.3254C>T
|
p.Ser1085Leu
|
3.0 |
|
B | ||
| 14133 | chr11 | 48167186 | C | T |
c.3856-18C>T
|
-
|
- | 3.0 |
|
B | |
| 35129 | chr11 | 48167208 | A | G |
c.3860A>G
|
p.Gln1287Arg
|
3.0 |
|
B | ||
| 5194 | chr11 | 49056374 | C | T |
c.746G>A
|
p.Gly249Glu
|
3.0 |
|
B | ||
| 22354 | chr11 | 49146848 | G | A |
c.2161C>T
|
p.Pro721Ser
|
- | 3.0 |
|
B |