Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 31400 | chr5 | 112840329 | ATTAT | A |
c.4738_4741del
|
p.Ile1580LeufsTer69
|
- | 4.5 |
|
B | |
| 11813 | chr5 | 112840360 | G | T |
c.4766G>T
|
p.Arg1589Leu
|
3.0 |
|
B | ||
| 1447 | chr5 | 112840366 | C | CA |
c.4778dup
|
p.Pro1594AlafsTer38
|
- | 4.0 |
|
B | |
| 291 | chr5 | 112840366 | CA | C |
c.4778del
|
p.Lys1593SerfsTer57
|
4.67 |
|
A | ||
| 6760 | chr5 | 112840390 | C | T |
c.4796C>T
|
p.Ser1599Leu
|
- | 3.0 |
|
B | |
| 21854 | chr5 | 112840527 | G | A |
c.4933G>A
|
p.Glu1645Lys
|
- | 3.0 |
|
B | |
| 26987 | chr5 | 112840539 | A | G |
c.4945A>G
|
p.Ile1649Val
|
3.0 |
|
B | ||
| 8468 | chr5 | 112840594 | ATGAGT | A |
c.5002_5006del
|
p.Glu1668SerfsTer7
|
- | 4.0 |
|
B | |
| 14271 | chr5 | 112840611 | GAAGGAGTTAGAGGAGGGGCACAGTCA | G |
c.5018_5043del
|
p.Glu1673GlyfsTer2
|
- | 4.0 |
|
B | |
| 5422 | chr5 | 112840616 | AGTTAGAGGAGGG | A |
c.5024_5035del
|
p.Val1675_Gly1678del
|
- | 3.0 |
|
B | |
| 9358 | chr5 | 112840632 | C | G |
c.5038C>G
|
p.Gln1680Glu
|
3.0 |
|
B | ||
| 28403 | chr5 | 112840647 | GA | G |
c.5058del
|
p.Lys1686AsnfsTer23
|
- | 4.0 |
|
B | |
| 35316 | chr5 | 112840708 | C | A |
c.5114C>A
|
p.Thr1705Asn
|
- | 3.0 |
|
B | |
| 33811 | chr5 | 112841113 | T | G |
c.5519T>G
|
p.Phe1840Cys
|
- | 3.0 |
|
B | |
| 949 | chr5 | 112841139 | A | G |
c.5545A>G
|
p.Ile1849Val
|
3.0 |
|
B | ||
| 9368 | chr5 | 112841310 | T | A |
c.5716T>A
|
p.Ser1906Thr
|
- | 3.0 |
|
B | |
| 27492 | chr5 | 112841352 | C | T |
c.5758C>T
|
p.Arg1920Ter
|
- | 4.5 |
|
B | |
| 2493 | chr5 | 112841462 | TG | T |
c.5869del
|
p.Glu1957LysfsTer13
|
- | 4.0 |
|
B | |
| 17546 | chr5 | 112841575 | A | G |
c.5981A>G
|
p.Asp1994Gly
|
3.0 |
|
B | ||
| 4532 | chr5 | 112841730 | G | A |
c.6136G>A
|
p.Ala2046Thr
|
2.5 |
|
B |