Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 26939 | chr5 | 112841741 | AAAG | A |
c.6150_6152del
|
p.Lys2052del
|
- | 3.0 |
|
B | |
| 23468 | chr5 | 112841838 | G | T |
c.6244G>T
|
p.Asp2082Tyr
|
- | 3.0 |
|
B | |
| 27493 | chr5 | 112841874 | C | T |
c.6280C>T
|
p.Pro2094Ser
|
3.0 |
|
B | ||
| 20597 | chr5 | 112842015 | G | T |
c.6421G>T
|
p.Gly2141Ter
|
- | 4.0 |
|
B | |
| 22527 | chr5 | 112842072 | A | T |
c.6478A>T
|
p.Thr2160Ser
|
- | 3.0 |
|
B | |
| 9018 | chr5 | 112842084 | G | A |
c.6490G>A
|
p.Gly2164Ser
|
- | 3.0 |
|
B | |
| 35317 | chr5 | 112842156 | A | G |
c.6562A>G
|
p.Ile2188Val
|
- | 3.0 |
|
B | |
| 24608 | chr5 | 112842229 | A | T |
c.6635A>T
|
p.Gln2212Leu
|
- | 3.0 |
|
B | |
| 28029 | chr5 | 112842303 | C | T |
c.6709C>T
|
p.Arg2237Ter
|
4.5 |
|
B | ||
| 11281 | chr5 | 112842528 | C | A |
c.6934C>A
|
p.Pro2312Thr
|
3.0 |
|
B | ||
| 1686 | chr5 | 112842537 | C | A |
c.6943C>A
|
p.Gln2315Lys
|
- | 3.0 |
|
B | |
| 30826 | chr5 | 112842630 | C | T |
c.7036C>T
|
p.Pro2346Ser
|
2.0 |
|
B | ||
| 31053 | chr5 | 112842865 | C | T |
c.7271C>T
|
p.Ser2424Leu
|
- | 3.0 |
|
B | |
| 2494 | chr5 | 112842886 | G | C |
c.7292G>C
|
p.Arg2431Thr
|
3.0 |
|
B | ||
| 19306 | chr5 | 112842888 | T | C |
c.7294T>C
|
p.Ser2432Pro
|
- | 3.0 |
|
B | |
| 2438 | chr5 | 112842957 | A | G |
c.7363A>G
|
p.Lys2455Glu
|
- | 3.0 |
|
B | |
| 3958 | chr5 | 112843056 | C | T |
c.7462C>T
|
p.Leu2488Phe
|
3.0 |
|
B | ||
| 3959 | chr5 | 112843060 | C | T |
c.7466C>T
|
p.Pro2489Leu
|
- | 3.0 |
|
B | |
| 292 | chr5 | 112843107 | C | T |
c.7513C>T
|
p.Arg2505Ter
|
5.0 |
|
B | ||
| 3538 | chr5 | 112843182 | C | T |
c.7588C>T
|
p.Arg2530Trp
|
2.5 |
|
B |