Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 29257 | chr17 | 7675143 | CGCGG | C |
c.465_468del
|
p.Arg156SerfsTer13
|
- | 4.0 |
|
B | |
| 7419 | chr17 | 7675143 | CGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCA | C |
c.421_468del
|
p.Cys141_Arg156del
|
- | 3.0 |
|
B | |
| 29279 | chr17 | 7675144 | G | GCGGGTGC |
c.461_467dup
|
p.Val157HisfsTer26
|
- | 4.0 |
|
B | |
| 15429 | chr17 | 7675144 | GC | G |
c.467del
|
p.Arg156ProfsTer14
|
- | 4.5 |
|
B | |
| 7861 | chr17 | 7675145 | CGGGTGCCGGGCGG | C |
c.454_466del
|
p.Pro152AlafsTer14
|
3.5 |
|
B | ||
| 24624 | chr17 | 7675148 | G | A |
c.464C>T
|
p.Thr155Ile
|
3.0 |
|
B | ||
| 5054 | chr17 | 7675150 | GC | G |
c.461del
|
p.Gly154AlafsTer16
|
- | 4.0 |
|
B | |
| 24947 | chr17 | 7675151 | C | A |
c.461G>T
|
p.Gly154Val
|
3.5 |
|
B | ||
| 21466 | chr17 | 7675151 | C | CA |
c.460_461insT
|
p.Gly154ValfsTer27
|
- | 4.0 |
|
B | |
| 8726 | chr17 | 7675152 | CG | C |
c.459del
|
p.Gly154AlafsTer16
|
- | 4.0 |
|
B | |
| 2142 | chr17 | 7675155 | GC | G |
c.456del
|
p.Gly154AlafsTer16
|
- | 4.0 |
|
B | |
| 3241 | chr17 | 7675156 | C | CG |
c.455dup
|
p.Pro153AlafsTer28
|
5.0 |
|
B | ||
| 35073 | chr17 | 7675156 | C | CGG |
c.454_455dup
|
p.Pro153ArgfsTer18
|
- | 4.0 |
|
B | |
| 13722 | chr17 | 7675156 | CG | C |
c.455del
|
p.Pro152ArgfsTer18
|
4.5 |
|
B | ||
| 9836 | chr17 | 7675156 | CGG | C |
c.454_455del
|
p.Pro152AlafsTer28
|
- | 4.5 |
|
B | |
| 3933 | chr17 | 7675157 | G | A |
c.455C>T
|
p.Pro152Leu
|
4.0 |
|
B | ||
| 2731 | chr17 | 7675157 | G | C |
c.455C>G
|
p.Pro152Arg
|
3.5 |
|
B | ||
| 8064 | chr17 | 7675158 | G | A |
c.454C>T
|
p.Pro152Ser
|
3.5 |
|
B | ||
| 2370 | chr17 | 7675160 | G | C |
c.452C>G
|
p.Pro151Arg
|
3.5 |
|
B | ||
| 32948 | chr17 | 7675160 | G | T |
c.452C>A
|
p.Pro151His
|
3.5 |
|
B |