Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 15944 | chr11 | 47342813 | G | A |
c.1457+17C>T
|
-
|
2.0 |
|
B | ||
| 19702 | chr11 | 47342915 | G | A |
c.1372C>T
|
p.Arg458Cys
|
3.0 |
|
B | ||
| 25633 | chr11 | 47343164 | G | A |
c.1227-19C>T
|
-
|
- | 3.0 |
|
B | |
| 34150 | chr11 | 47346254 | A | G |
c.1043T>C
|
p.Met348Thr
|
- | 3.0 |
|
B | |
| 30317 | chr11 | 47347010 | C | T |
c.908+17G>A
|
-
|
- | 3.0 |
|
B | |
| 8319 | chr11 | 47347036 | C | A |
c.906-7G>T
|
-
|
2.0 |
|
B | ||
| 8320 | chr11 | 47347037 | A | C |
c.906-8T>G
|
-
|
- | 3.0 |
|
B | |
| 32543 | chr11 | 47348418 | C | G |
c.772+6G>C
|
-
|
- | 3.0 |
|
B | |
| 20984 | chr11 | 47348433 | T | G |
c.763A>C
|
p.Thr255Pro
|
- | 3.0 |
|
B | |
| 27556 | chr11 | 47349764 | G | A |
c.654+10C>T
|
-
|
2.0 |
|
B | ||
| 16464 | chr11 | 47349797 | C | T |
c.631G>A
|
p.Asp211Asn
|
3.0 |
|
B | ||
| 25831 | chr11 | 47349799 | T | G |
c.629A>C
|
p.His210Pro
|
- | 3.0 |
|
B | |
| 23507 | chr11 | 47349931 | G | T |
c.506-9C>A
-
|
-
-
|
3.0 |
|
B | ||
| 17329 | chr11 | 47350482 | C | T |
c.406+20G>A
-
|
-
-
|
2.5 |
|
B | ||
| 26102 | chr11 | 47350555 | C | T |
c.353G>A
-
|
p.Gly118Glu
-
|
3.0 |
|
B | ||
| 16496 | chr11 | 47351231 | G | A |
c.292+8C>T
-
|
-
-
|
- | 3.0 |
|
B | |
| 26769 | chr11 | 47351297 | A | C |
c.234T>G
-
|
p.Ser78=
-
|
- | 3.0 |
|
B | |
| 28914 | chr11 | 47351301 | C | T |
c.230G>A
-
|
p.Gly77Glu
-
|
3.0 |
|
B | ||
| 16371 | chr11 | 47352667 | G | T |
c.-20C>A
-
|
-
-
|
- | 3.0 |
|
B | |
| 35417 | chr11 | 47569731 | G | A |
-
c.287G>A
|
-
p.Arg96Gln
|
3.0 |
|
B |