Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 10146 | chr3 | 47046553 | C | CG |
c.7031_7032insC
|
p.Val2345GlyfsTer24
|
- | 4.0 |
|
B | |
| 34848 | chr3 | 47056823 | G | C |
c.6961C>G
|
p.Gln2321Glu
|
- | 3.0 |
|
B | |
| 3045 | chr3 | 47057068 | T | C |
c.6716A>G
|
p.Gln2239Arg
|
- | 3.0 |
|
B | |
| 33719 | chr3 | 47057078 | A | G |
c.6706T>C
|
p.Ser2236Pro
|
3.0 |
|
B | ||
| 18660 | chr3 | 47057180 | G | C |
c.6604C>G
|
p.Pro2202Ala
|
2.5 |
|
B | ||
| 31889 | chr3 | 47057225 | C | T |
c.6559G>A
|
p.Val2187Met
|
- | 3.0 |
|
B | |
| 23914 | chr3 | 47057375 | GTTTCTGAGCCT | G |
c.6398_6408del
|
p.Glu2133AlafsTer17
|
- | 4.0 |
|
B | |
| 25798 | chr3 | 47057387 | C | A |
c.6397G>T
|
p.Glu2133Ter
|
- | 4.0 |
|
B | |
| 24143 | chr3 | 47057465 | T | A |
c.6319A>T
|
p.Lys2107Ter
|
- | 4.0 |
|
B | |
| 2452 | chr3 | 47057491 | C | T |
c.6294-1G>A
|
p.?
|
- | 4.0 |
|
B | |
| 2271 | chr3 | 47062225 | TC | T |
c.6230del
|
p.Arg2077GlnfsTer70
|
- | 4.0 |
|
B | |
| 10327 | chr3 | 47062227 | G | A |
c.6229C>T
|
p.Arg2077Ter
|
4.0 |
|
B | ||
| 22718 | chr3 | 47062270 | C | G |
c.6186G>C
|
p.Glu2062Asp
|
- | 3.0 |
|
B | |
| 13711 | chr3 | 47062308 | G | A |
c.6148C>T
|
p.Gln2050Ter
|
- | 4.0 |
|
B | |
| 12713 | chr3 | 47067103 | G | A |
c.6076C>T
|
p.Pro2026Ser
|
- | 3.0 |
|
B | |
| 14510 | chr3 | 47083885 | GCT | G |
c.5893_5894del
|
p.Ser1965GlnfsTer10
|
- | 4.0 |
|
B | |
| 2232 | chr3 | 47084234 | G | A |
c.5546C>T
|
p.Ser1849Leu
|
3.0 |
|
B | ||
| 5899 | chr3 | 47084300 | C | G |
c.5480G>C
|
p.Trp1827Ser
|
- | 3.0 |
|
B | |
| 15081 | chr3 | 47084307 | G | A |
c.5473C>T
|
p.Gln1825Ter
|
- | 4.0 |
|
B | |
| 27940 | chr3 | 47086176 | A | G |
c.5397+19T>C
|
-
|
2.0 |
|
B |