Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 8006 | chr2 | 189004130 | C | T |
c.2810C>T
|
p.Ala937Val
|
- | 3.0 |
|
B | |
| 639 | chr2 | 189004294 | G | T |
c.2861G>T
|
p.Gly954Val
|
- | 3.0 |
|
B | |
| 16581 | chr2 | 189005333 | C | T |
c.2932-17C>T
|
-
|
- | 3.0 |
|
B | |
| 29521 | chr2 | 189005347 | C | T |
c.2932-3C>T
|
-
|
- | 3.0 |
|
B | |
| 26493 | chr2 | 189005377 | G | A |
c.2959G>A
|
p.Gly987Ser
|
3.0 |
|
B | ||
| 28824 | chr2 | 189005460 | G | C |
c.3039+3G>C
|
-
|
- | 3.0 |
|
B | |
| 18772 | chr2 | 189006206 | G | A |
c.3040G>A
|
p.Gly1014Arg
|
3.0 |
|
B | ||
| 21688 | chr2 | 189006352 | G | A |
c.3101G>A
|
p.Arg1034His
|
3.0 |
|
B | ||
| 12876 | chr2 | 189006357 | G | A |
c.3106G>A
|
p.Glu1036Lys
|
3.0 |
|
B | ||
| 23681 | chr2 | 189006384 | G | A |
c.3133G>A
|
p.Ala1045Thr
|
2.0 |
|
B | ||
| 14874 | chr2 | 189006442 | G | A |
c.3191G>A
|
p.Arg1064Lys
|
- | 3.0 |
|
B | |
| 19397 | chr2 | 189006971 | C | T |
c.3236C>T
|
p.Ala1079Val
|
- | 3.0 |
|
B | |
| 22526 | chr2 | 189007885 | G | T |
c.3364G>T
|
p.Gly1122Cys
|
- | 3.0 |
|
B | |
| 1224 | chr2 | 189008071 | G | A |
c.3454G>A
|
p.Gly1152Arg
|
- | 3.0 |
|
B | |
| 35156 | chr2 | 189008093 | C | T |
c.3476C>T
|
p.Pro1159Leu
|
3.0 |
|
B | ||
| 15972 | chr2 | 189008113 | C | T |
c.3496C>T
|
p.Arg1166Ter
|
3.0 |
|
B | ||
| 7849 | chr2 | 189008134 | G | A |
c.3517G>A
|
p.Gly1173Arg
|
3.0 |
|
B | ||
| 7990 | chr2 | 189008135 | G | A |
c.3518G>A
|
p.Gly1173Glu
|
3.0 |
|
B | ||
| 12263 | chr2 | 189008939 | C | T |
c.3541C>T
|
p.Pro1181Ser
|
- | 3.0 |
|
B | |
| 6253 | chr2 | 189009041 | G | A |
c.3643G>A
|
p.Gly1215Ser
|
3.0 |
|
B |