Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 22147 | chr17 | 7676091 | AG | A |
c.277del
|
p.Leu93CysfsTer30
|
4.5 |
|
B | ||
| 10351 | chr17 | 7676097 | C | T |
c.272G>A
|
p.Trp91Ter
|
5.0 |
|
B | ||
| 23003 | chr17 | 7676098 | AGGAGGGGGCTG | A |
c.260_270del
|
p.Pro87LeufsTer58
|
4.0 |
|
B | ||
| 33267 | chr17 | 7676101 | AG | A |
c.267del
|
p.Ser90ProfsTer33
|
5.0 |
|
B | ||
| 27677 | chr17 | 7676110 | G | A |
c.259C>T
|
p.Pro87Ser
|
- | 3.0 |
|
B | |
| 6264 | chr17 | 7676114 | AG | A |
c.254del
|
p.Pro85LeufsTer38
|
4.0 |
|
B | ||
| 6732 | chr17 | 7676114 | AGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGG | A |
c.215_254del
|
p.Pro72LeufsTer38
|
- | 4.0 |
|
B | |
| 7251 | chr17 | 7676122 | CCG | C |
c.245_246del
|
p.Pro82ArgfsTer66
|
- | 4.0 |
|
B | |
| 16114 | chr17 | 7676137 | C | CTGGTGCAG |
c.224_231dup
|
p.Ala78LeufsTer48
|
- | 4.0 |
|
B | |
| 27077 | chr17 | 7676144 | AG | A |
c.224del
|
p.Pro75LeufsTer48
|
- | 5.0 |
|
B | |
| 12493 | chr17 | 7676151 | A | ACG |
c.216_217dup
|
p.Val73AlafsTer51
|
- | 4.5 |
|
B | |
| 7969 | chr17 | 7676151 | AC | A |
c.217del
|
p.Val73TrpfsTer50
|
- | 4.5 |
|
B | |
| 2971 | chr17 | 7676152 | C | CG |
c.216dup
|
p.Val73ArgfsTer76
|
3.5 |
|
B | ||
| 73 | chr17 | 7676152 | C | T |
c.217G>A
|
p.Val73Met
|
2.0 |
|
B | ||
| 2624 | chr17 | 7676152 | CGGGG | C |
c.213_216del
|
p.Pro72TrpfsTer50
|
- | 4.0 |
|
B | |
| 3139 | chr17 | 7676154 | G | A |
c.215C>T
|
p.Pro72Leu
|
2.5 |
|
B | ||
| 11584 | chr17 | 7676154 | G | C |
c.215C>G
|
p.Pro72Arg
|
1.0 |
|
B | ||
| 35609 | chr17 | 7676158 | G | C |
c.211C>G
|
p.Pro71Ala
|
2.5 |
|
B | ||
| 34641 | chr17 | 7676166 | T | C |
c.203A>G
|
p.Glu68Gly
|
- | 3.0 |
|
B | |
| 29301 | chr17 | 7676167 | C | A |
c.202G>T
|
p.Glu68Ter
|
4.5 |
|
B |