Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1501 | chr5 | 177260165 | G | C |
c.5143G>C
|
p.Glu1715Gln
|
- | 3.0 |
|
B | |
| 29774 | chr5 | 177267615 | C | A |
c.5200C>A
|
p.Leu1734Met
|
3.0 |
|
B | ||
| 3921 | chr5 | 177267712 | G | A |
c.5297G>A
|
p.Arg1766Gln
|
- | 3.0 |
|
B | |
| 3949 | chr5 | 177267715 | A | T |
c.5300A>T
|
p.Tyr1767Phe
|
- | 3.0 |
|
B | |
| 1502 | chr5 | 177269730 | G | T |
c.5432G>T
|
p.Arg1811Leu
|
- | 3.0 |
|
B | |
| 29095 | chr5 | 177280611 | C | G |
c.5669C>G
|
p.Ser1890Cys
|
- | 3.0 |
|
B | |
| 8640 | chr5 | 177282501 | G | C |
c.5929G>C
|
p.Asp1977His
|
- | 3.0 |
|
B | |
| 33441 | chr5 | 177282548 | TA | T |
c.5977del
|
p.Ile1993SerfsTer9
|
- | 4.0 |
|
B | |
| 26356 | chr5 | 177283827 | G | A |
c.6050G>A
|
p.Arg2017Gln
|
3.5 |
|
B | ||
| 13009 | chr5 | 177283944 | G | A |
c.6151+16G>A
|
-
|
- | 3.0 |
|
B | |
| 1774 | chr5 | 177288854 | CTTGGG | C |
c.6188_6192del
|
p.Leu2063GlnfsTer48
|
- | 3.5 |
|
B | |
| 6325 | chr5 | 177291957 | C | T |
c.6262C>T
|
p.Gln2088Ter
|
- | 3.5 |
|
B | |
| 23917 | chr5 | 177293893 | T | G |
c.6525T>G
|
p.Cys2175Trp
|
- | 3.0 |
|
B | |
| 33440 | chr5 | 177293927 | C | T |
c.6559C>T
|
p.Arg2187Ter
|
4.0 |
|
B | ||
| 1632 | chr5 | 177293982 | A | G |
c.6614A>G
|
p.His2205Arg
|
- | 3.5 |
|
B | |
| 10606 | chr5 | 177294218 | G | A |
c.6850G>A
|
p.Glu2284Lys
|
- | 3.0 |
|
B | |
| 29699 | chr5 | 177294408 | C | T |
c.7040C>T
|
p.Ser2347Phe
|
- | 3.0 |
|
B | |
| 10567 | chr5 | 177294419 | G | T |
c.7051G>T
|
p.Glu2351Ter
|
- | 3.5 |
|
B | |
| 2139 | chr5 | 177294941 | G | T |
c.7573G>T
|
p.Asp2525Tyr
|
- | 3.0 |
|
B | |
| 6280 | chr5 | 177295171 | G | C |
c.7803G>C
|
p.Arg2601Ser
|
- | 3.0 |
|
B |