Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 8357 | chr17 | 76479809 | G | A |
c.196C>T
|
p.Arg66Cys
|
3.0 |
|
B | ||
| 19116 | chr17 | 76479907 | G | A |
c.151-53C>T
|
-
|
3.0 |
|
B | ||
| 29397 | chr17 | 76479913 | C | T |
c.151-59G>A
|
-
|
3.0 |
|
B | ||
| 10788 | chr17 | 76481499 | C | T |
c.26G>A
|
p.Gly9Glu
|
3.0 |
|
B | ||
| 12443 | chr17 | 76481538 | C | T |
c.-14G>A
|
-
|
1.0 |
|
B | ||
| 32672 | chr17 | 76482078 | T | C |
c.-21-533A>G
|
-
|
3.0 |
|
B | ||
| 32709 | chr17 | 76736152 | A | G |
-
c.*7+2T>C
-
|
-
p.?
-
|
- | 3.0 |
|
B | |
| 3023 | chr17 | 76736239 | G | C |
-
c.588C>G
-
|
-
p.Ser196=
-
|
- | 3.0 |
|
B | |
| 32632 | chr17 | 76736249 | GGAGGACTCCTGGACCGAGACCGGGACCTGGACCGCGAACGAGATCTGGAGACCGAC | G |
-
c.522_577del
-
|
-
p.Ser175ProfsTer21
-
|
- | 3.0 |
|
B | |
| 1349 | chr17 | 76736294 | C | G |
-
c.533G>C
-
|
-
p.Arg178Thr
-
|
3.0 |
|
B | ||
| 10489 | chr17 | 76736363 | G | T |
-
c.464C>A
-
|
-
p.Ser155Tyr
-
|
- | 3.0 |
|
B | |
| 18462 | chr17 | 76736451 | G | A |
-
c.376C>T
-
|
-
p.Arg126Cys
-
|
- | 3.0 |
|
B | |
| 8390 | chr17 | 76736841 | G | A |
-
c.320C>T
-
|
-
p.Pro107Leu
-
|
- | 3.0 |
|
B | |
| 2476 | chr17 | 76736863 | GGTGTGAGTCCGGGGGGCGGCCGTA | G |
-
c.274_297del
-
|
-
p.Tyr92_His99del
-
|
- | 3.0 |
|
B | |
| 21129 | chr17 | 76736962 | C | T |
-
c.199G>A
-
|
-
p.Asp67Asn
-
|
- | 3.0 |
|
B | |
| 17747 | chr17 | 76737058 | C | T |
-
c.103G>A
-
|
-
p.Glu35Lys
-
|
- | 3.0 |
|
B | |
| 18629 | chr17 | 76737122 | CAT | C |
-
c.37_38del
-
|
-
p.Met13AspfsTer56
-
|
- | 3.0 |
|
B | |
| 31634 | chr17 | 77281536 | A | C |
c.1A>C
|
p.Met1?
|
3.0 |
|
B | ||
| 33054 | chr17 | 77281565 | C | A |
c.19+11C>A
|
-
|
3.0 |
|
B | ||
| 20567 | chr17 | 77307205 | G | A |
c.76+8G>A
|
-
|
- | 3.0 |
|
B |