Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 11209 | chr3 | 130395132 | G | A |
c.3235G>A
|
p.Gly1079Ser
|
2.5 |
|
B | ||
| 19419 | chr3 | 131014202 | CT | C |
c.1894del
|
p.Arg632GlyfsTer33
|
3.0 |
|
B | ||
| 20301 | chr3 | 131014202 | CTT | C |
c.1893_1894del
|
p.Arg632AlafsTer10
|
3.0 |
|
B | ||
| 4652 | chr3 | 133395972 | G | A |
c.1714G>A
-
|
p.Val572Ile
-
|
3.0 |
|
B | ||
| 4441 | chr3 | 133587893 | T | A |
c.627-3T>A
|
-
|
- | 3.0 |
|
B | |
| 3388 | chr3 | 134627765 | C | T |
c.391G>A
|
p.Asp131Asn
|
- | 3.0 |
|
B | |
| 5446 | chr3 | 134795686 | G | A |
c.55G>A
|
p.Glu19Lys
|
- | 3.0 |
|
B | |
| 33790 | chr3 | 134925826 | G | T |
c.69G>T
|
p.Met23Ile
|
- | 3.5 |
|
B | |
| 3095 | chr3 | 134925861 | C | T |
c.104C>T
|
p.Thr35Met
|
3.0 |
|
B | ||
| 20950 | chr3 | 134925899 | G | A |
c.123+19G>A
|
-
|
3.0 |
|
B | ||
| 30592 | chr3 | 134951497 | C | T |
c.250C>T
|
p.Arg84Cys
|
3.0 |
|
B | ||
| 17857 | chr3 | 134951515 | C | G |
c.268C>G
|
p.Arg90Gly
|
3.0 |
|
B | ||
| 16287 | chr3 | 134951516 | G | A |
c.269G>A
|
p.Arg90His
|
3.0 |
|
B | ||
| 21109 | chr3 | 134951518 | T | G |
c.271T>G
|
p.Phe91Val
|
3.0 |
|
B | ||
| 26175 | chr3 | 134951538 | C | A |
c.291C>A
|
p.Ser97Arg
|
- | 3.0 |
|
B | |
| 18563 | chr3 | 134951689 | C | T |
c.442C>T
|
p.Gln148Ter
|
- | 3.5 |
|
B | |
| 22063 | chr3 | 134951743 | G | T |
c.496G>T
|
p.Gly166Trp
|
- | 3.0 |
|
B | |
| 12358 | chr3 | 134951861 | T | C |
c.614T>C
|
p.Val205Ala
|
3.0 |
|
B | ||
| 26869 | chr3 | 134951998 | G | T |
c.751G>T
|
p.Gly251Trp
|
- | 3.0 |
|
B | |
| 8714 | chr3 | 134952040 | G | C |
c.793G>C
|
p.Val265Leu
|
- | 3.0 |
|
B |