Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 581 | chr2 | 47806525 | G | A |
c.3875G>A
-
|
p.Gly1292Glu
-
|
3.0 |
|
B | ||
| 123 | chr2 | 47806651 | G | A |
c.4001G>A
-
|
p.Arg1334Gln
-
|
5.0 |
|
B | ||
| 31645 | chr2 | 47806671 | G | A |
c.4001+20G>A
-
|
-
-
|
- | 2.5 |
|
B | |
| 23979 | chr2 | 47808173 | T | A |
-
c.2729A>T
|
-
p.Asp910Val
|
- | 3.5 |
|
B | |
| 4296 | chr2 | 47808196 | AGC | A |
-
c.2704_2705del
|
-
p.Ala902TrpfsTer2
|
- | 4.0 |
|
B | |
| 25413 | chr2 | 47808367 | G | C |
-
c.2616C>G
|
-
p.Cys872Trp
|
- | 3.0 |
|
B | |
| 6780 | chr2 | 47809218 | C | G |
-
c.2495G>C
|
-
p.Arg832Thr
|
- | 3.0 |
|
B | |
| 14892 | chr2 | 47809727 | C | T |
-
c.2339-20G>A
|
-
-
|
- | 3.0 |
|
B | |
| 15164 | chr2 | 47810409 | C | T |
-
c.2245G>A
|
-
p.Asp749Asn
|
- | 3.0 |
|
B | |
| 15165 | chr2 | 47810418 | C | T |
-
c.2236G>A
|
-
p.Glu746Lys
|
- | 3.0 |
|
B | |
| 19380 | chr2 | 47813238 | AC | A |
c.2222del
|
p.Gly741ValfsTer28
|
- | 4.0 |
|
B | |
| 27071 | chr2 | 47813263 | C | G |
c.2198G>C
|
p.Gly733Ala
|
- | 3.0 |
|
B | |
| 14057 | chr2 | 47818775 | T | C |
c.2006+4A>G
|
-
|
- | 3.5 |
|
B | |
| 14590 | chr2 | 47818807 | T | C |
c.1978A>G
|
p.Asn660Asp
|
- | 3.0 |
|
B | |
| 28783 | chr2 | 47820405 | C | T |
c.1754G>A
|
p.Arg585Gln
|
3.0 |
|
B | ||
| 20277 | chr2 | 47822248 | G | A |
c.1672C>T
|
p.Arg558Ter
|
- | 4.0 |
|
B | |
| 19381 | chr2 | 47822320 | TA | T |
c.1617-18del
|
-
|
2.5 |
|
B | ||
| 22186 | chr2 | 47823248 | C | T |
c.1511G>A
|
p.Gly504Glu
|
- | 3.0 |
|
B | |
| 1487 | chr2 | 47823282 | C | A |
c.1477G>T
|
p.Val493Phe
|
- | 3.0 |
|
B | |
| 34390 | chr2 | 47832360 | C | G |
c.1387G>C
|
p.Asp463His
|
- | 3.0 |
|
B |