Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 14543 | chr17 | 80388671 | C | G |
c.14982C>G
|
p.Ile4994Met
|
- | 3.0 |
|
B | |
| 14292 | chr17 | 80389172 | G | C |
c.15001-1G>C
|
p.?
|
- | 3.0 |
|
B | |
| 14293 | chr17 | 80389344 | G | T |
c.15172G>T
|
p.Asp5058Tyr
|
- | 3.0 |
|
B | |
| 14294 | chr17 | 80389894 | G | C |
c.15262G>C
|
p.Glu5088Gln
|
- | 3.0 |
|
B | |
| 883 | chr17 | 80545657 | C | T |
c.28C>T
|
p.Leu10Phe
|
3.0 |
|
B | ||
| 16649 | chr17 | 80545663 | G | A |
c.34G>A
|
p.Gly12Ser
|
3.0 |
|
B | ||
| 13595 | chr17 | 80545679 | A | G |
c.50A>G
|
p.Asp17Gly
|
3.0 |
|
B | ||
| 8942 | chr17 | 80545703 | A | G |
c.74A>G
|
p.Asn25Ser
|
3.0 |
|
B | ||
| 22947 | chr17 | 80545809 | G | A |
c.162+18G>A
|
-
|
3.0 |
|
B | ||
| 27193 | chr17 | 80625807 | C | T |
c.265+14C>T
|
-
|
- | 3.0 |
|
B | |
| 6336 | chr17 | 80707896 | C | T |
c.404C>T
|
p.Thr135Met
|
3.0 |
|
B | ||
| 10229 | chr17 | 80707907 | C | T |
c.415C>T
|
p.Arg139Cys
|
- | 3.0 |
|
B | |
| 23235 | chr17 | 80730603 | C | T |
c.551C>T
|
p.Thr184Met
|
3.0 |
|
B | ||
| 6197 | chr17 | 80754059 | C | T |
c.704C>T
|
p.Pro235Leu
|
3.0 |
|
B | ||
| 30662 | chr17 | 80754101 | C | T |
c.746C>T
|
p.Thr249Ile
|
- | 3.0 |
|
B | |
| 28774 | chr17 | 80754148 | T | A |
c.793T>A
|
p.Ser265Thr
|
- | 3.0 |
|
B | |
| 33080 | chr17 | 80754193 | G | A |
c.830+8G>A
|
-
|
- | 3.0 |
|
B | |
| 12766 | chr17 | 80822200 | G | A |
c.891-1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 4073 | chr17 | 80822250 | T | G |
c.940T>G
|
p.Trp314Gly
|
- | 3.0 |
|
B | |
| 32179 | chr17 | 80822310 | C | T |
c.991+9C>T
|
-
|
3.0 |
|
B |