Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 5424 | chr3 | 170270502 | G | T |
c.532G>T
|
p.Val178Phe
|
- | 3.0 |
|
B | |
| 3118 | chr3 | 170281173 | A | T |
c.890A>T
|
p.Asp297Val
|
- | 3.0 |
|
B | |
| 33058 | chr3 | 170281928 | C | T |
c.1027C>T
|
p.His343Tyr
|
- | 3.0 |
|
B | |
| 21851 | chr3 | 170284568 | T | C |
c.1175T>C
|
p.Ile392Thr
|
- | 3.0 |
|
B | |
| 24528 | chr3 | 170284585 | G | A |
c.1192G>A
|
p.Gly398Ser
|
3.0 |
|
B | ||
| 5272 | chr3 | 170293424 | G | C |
c.1333G>C
|
p.Glu445Gln
|
- | 3.0 |
|
B | |
| 21846 | chr3 | 170299039 | TG | T |
c.1636del
|
p.Glu546AsnfsTer26
|
- | 3.0 |
|
B | |
| 2186 | chr3 | 170299111 | G | A |
c.1703+1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 4654 | chr3 | 171167090 | C | T |
c.949+5G>A
|
-
|
- | 3.0 |
|
B | |
| 4655 | chr3 | 171603235 | G | A |
c.3068C>T
|
p.Pro1023Leu
|
- | 3.0 |
|
B | |
| 35578 | chr3 | 177034160 | GAAGACTCATAAAAGGAAAAATGAAACAGAAGTATCACCTTGCTAACATAAGGTTGGCATT | G |
c.1228_1250+37del
|
p.?
|
- | 3.0 |
|
B | |
| 6428 | chr3 | 177034245 | T | TG |
c.1202dup
|
p.Thr402AsnfsTer6
|
- | 3.0 |
|
B | |
| 35007 | chr3 | 177038117 | G | C |
c.1103C>G
|
p.Ser368Cys
|
- | 3.0 |
|
B | |
| 32966 | chr3 | 177038174 | T | TA |
c.1048-3dup
|
-
|
- | 3.0 |
|
B | |
| 28785 | chr3 | 177038296 | G | GA |
c.1047+16dup
|
-
|
3.0 |
|
B | ||
| 30690 | chr3 | 177038341 | C | T |
c.1019G>A
|
p.Arg340Lys
|
- | 3.0 |
|
B | |
| 17476 | chr3 | 177047283 | A | G |
c.864+17T>C
|
-
|
- | 3.0 |
|
B | |
| 1924 | chr3 | 177047519 | A | G |
c.733T>C
|
p.Tyr245His
|
- | 3.0 |
|
B | |
| 7371 | chr3 | 177047521 | G | A |
c.731C>T
|
p.Ser244Phe
|
3.0 |
|
B | ||
| 17937 | chr3 | 177050007 | A | C |
c.692T>G
|
p.Leu231Arg
|
- | 3.0 |
|
B |