Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 8914 | chr2 | 47369561 | C | T |
c.56C>T
|
p.Thr19Ile
|
3.0 |
|
B | ||
| 10448 | chr2 | 47373442 | AT | A |
c.77-11del
|
-
|
3.0 |
|
B | ||
| 20198 | chr2 | 47373442 | ATT | A |
c.77-12_77-11del
|
-
|
3.0 |
|
B | ||
| 24642 | chr2 | 47373880 | G | A |
c.257G>A
|
p.Gly86Glu
|
- | 3.0 |
|
B | |
| 17696 | chr2 | 47373897 | G | A |
c.274G>A
|
p.Asp92Asn
|
- | 3.0 |
|
B | |
| 5556 | chr2 | 47373940 | A | C |
c.317A>C
|
p.Lys106Thr
|
- | 3.0 |
|
B | |
| 26696 | chr2 | 47377009 | T | C |
c.492-5T>C
|
-
|
1.0 |
|
B | ||
| 19039 | chr2 | 47379056 | T | G |
c.657+2T>G
|
p.?
|
- | 3.0 |
|
B | |
| 475 | chr2 | 47379790 | C | T |
c.679C>T
|
p.His227Tyr
|
3.0 |
|
B | ||
| 8237 | chr2 | 47379922 | GT | G |
c.813del
|
p.Ile272LeufsTer5
|
- | 3.5 |
|
B | |
| 24117 | chr2 | 47402751 | G | GTT |
-
|
-
|
- | 3.0 |
|
B | |
| 26697 | chr2 | 47402949 | C | A |
-
|
-
|
- | 3.0 |
|
B | |
| 15408 | chr2 | 47402996 | G | T |
-
|
-
|
- | 3.0 |
|
B | |
| 6295 | chr2 | 47403011 | G | C |
-
|
-
|
- | 3.0 |
|
B | |
| 34378 | chr2 | 47403307 | G | C |
c.116G>C
|
p.Arg39Pro
|
2.5 |
|
B | ||
| 29991 | chr2 | 47403394 | G | A |
c.203G>A
|
p.Gly68Glu
|
2.5 |
|
B | ||
| 21502 | chr2 | 47408384 | C | CT |
c.212-4dup
|
-
|
1.5 |
|
B | ||
| 11289 | chr2 | 47408384 | CT | C |
c.212-4del
|
-
|
2.5 |
|
B | ||
| 20199 | chr2 | 47408384 | CTT | C |
c.212-5_212-4del
|
-
|
2.0 |
|
B | ||
| 20200 | chr2 | 47408384 | CTTT | C |
c.212-6_212-4del
|
-
|
2.0 |
|
B |