Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 29514 | chr17 | 80307220 | G | A |
c.2501+19G>A
|
-
|
- | 3.0 |
|
B | |
| 29515 | chr17 | 80307221 | C | T |
c.2501+20C>T
|
-
|
3.0 |
|
B | ||
| 30454 | chr17 | 80309005 | CTT | C |
c.2502-11_2502-10del
|
-
|
3.0 |
|
B | ||
| 20820 | chr17 | 80313055 | A | G |
c.2699A>G
|
p.Gln900Arg
|
3.0 |
|
B | ||
| 24210 | chr17 | 80319408 | C | A |
c.3024+96C>A
|
-
|
- | 3.0 |
|
B | |
| 28712 | chr17 | 80325051 | G | A |
c.3046G>A
|
p.Gly1016Arg
|
- | 3.0 |
|
B | |
| 15305 | chr17 | 80325188 | C | A |
c.3183C>A
|
p.Phe1061Leu
|
- | 3.0 |
|
B | |
| 30540 | chr17 | 80328324 | C | T |
c.3368-4C>T
|
-
|
3.0 |
|
B | ||
| 27005 | chr17 | 80332415 | C | G |
c.3927C>G
|
p.Asp1309Glu
|
- | 3.0 |
|
B | |
| 17392 | chr17 | 80334278 | C | T |
c.4309+8C>T
|
-
|
3.0 |
|
B | ||
| 22471 | chr17 | 80336147 | C | T |
c.4310-14C>T
|
-
|
3.0 |
|
B | ||
| 15212 | chr17 | 80336169 | G | T |
c.4318G>T
|
p.Glu1440Ter
|
- | 3.0 |
|
B | |
| 18175 | chr17 | 80337693 | C | G |
c.4635C>G
|
p.Ile1545Met
|
3.0 |
|
B | ||
| 32992 | chr17 | 80339250 | C | T |
c.4883C>T
|
p.Ser1628Phe
|
- | 3.0 |
|
B | |
| 16256 | chr17 | 80339430 | A | C |
c.5063A>C
|
p.Lys1688Thr
|
3.0 |
|
B | ||
| 20252 | chr17 | 80339720 | T | C |
c.5353T>C
|
p.Ser1785Pro
|
- | 3.0 |
|
B | |
| 17081 | chr17 | 80339880 | C | CCTCGGAGTGGCCACAGACGA |
c.5514_5515insTCGGAGTGGCCACAGACGAC
|
p.Glu1839SerfsTer51
|
- | 3.0 |
|
B | |
| 25725 | chr17 | 80340032 | C | A |
c.5665C>A
|
p.His1889Asn
|
- | 3.0 |
|
B | |
| 17393 | chr17 | 80343335 | C | T |
c.6183+10C>T
|
-
|
- | 3.0 |
|
B | |
| 15248 | chr17 | 80343891 | TCCTCATTTTACAATA | T |
c.6220_6234del
|
p.Ile2075_Leu2079del
|
- | 3.0 |
|
B |