Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 23854 | chr2 | 178632497 | GGGGTGGACTATTTGATAAAACTATTTACCTTCAATGATCAGTTTGCCACTTGTGTGCTTAT | G |
c.43448_43480+28del
|
p.?
|
- | 3.0 |
|
B | |
| 8292 | chr2 | 178632706 | C | T |
c.43300G>A
|
p.Glu14434Lys
|
- | 3.0 |
|
B | |
| 17226 | chr2 | 178632912 | G | A |
c.43213+6C>T
|
-
|
- | 3.0 |
|
B | |
| 30174 | chr2 | 178633052 | G | A |
c.43087-8C>T
|
-
|
2.5 |
|
B | ||
| 19510 | chr2 | 178633188 | G | A |
c.43085C>T
|
p.Pro14362Leu
|
- | 3.0 |
|
B | |
| 32212 | chr2 | 178633240 | G | A |
c.43033C>T
|
p.Pro14345Ser
|
3.0 |
|
B | ||
| 19963 | chr2 | 178633294 | C | T |
c.42979G>A
|
p.Gly14327Arg
|
3.0 |
|
B | ||
| 25976 | chr2 | 178633304 | C | A |
c.42969G>T
|
p.Lys14323Asn
|
- | 3.0 |
|
B | |
| 24037 | chr2 | 178633438 | C | G |
c.42921G>C
|
p.Lys14307Asn
|
- | 3.0 |
|
B | |
| 4639 | chr2 | 178633467 | C | T |
c.42892G>A
|
p.Glu14298Lys
|
2.5 |
|
B | ||
| 17761 | chr2 | 178633623 | C | T |
c.42736G>A
|
p.Asp14246Asn
|
- | 3.0 |
|
B | |
| 34882 | chr2 | 178634035 | TC | T |
c.42463del
|
p.Glu14155LysfsTer18
|
- | 3.0 |
|
B | |
| 34144 | chr2 | 178634399 | C | A |
c.42382G>T
|
p.Gly14128Cys
|
- | 3.0 |
|
B | |
| 17227 | chr2 | 178635187 | C | T |
c.42002G>A
|
p.Gly14001Glu
|
- | 3.0 |
|
B | |
| 21066 | chr2 | 178635302 | G | A |
c.41887C>T
|
p.Arg13963Cys
|
3.0 |
|
B | ||
| 30080 | chr2 | 178635560 | C | T |
c.41764G>A
|
p.Glu13922Lys
|
- | 3.0 |
|
B | |
| 26423 | chr2 | 178635569 | C | T |
c.41755G>A
|
p.Asp13919Asn
|
- | 3.0 |
|
B | |
| 18510 | chr2 | 178635627 | T | G |
c.41697A>C
|
p.Lys13899Asn
|
- | 3.0 |
|
B | |
| 21598 | chr2 | 178635638 | C | T |
c.41686G>A
|
p.Asp13896Asn
|
3.0 |
|
B | ||
| 15168 | chr2 | 178635983 | G | A |
c.41588C>T
|
p.Ser13863Leu
|
- | 3.0 |
|
B |