Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 11563 | chr17 | 1681007 | C | G |
c.914G>C
|
p.Arg305Pro
|
- | 3.0 |
|
B | |
| 2116 | chr17 | 1681477 | C | G |
c.866+1G>C
|
p.?
|
- | 3.5 |
|
B | |
| 3891 | chr17 | 1681520 | C | T |
c.824G>A
|
p.Gly275Glu
|
- | 3.0 |
|
B | |
| 18834 | chr17 | 1681809 | C | A |
c.653+11G>T
|
-
|
- | 3.0 |
|
B | |
| 17693 | chr17 | 1681848 | C | G |
c.625G>C
|
p.Asp209His
|
- | 3.0 |
|
B | |
| 32789 | chr17 | 1681914 | G | C |
c.559C>G
|
p.Pro187Ala
|
- | 3.0 |
|
B | |
| 10529 | chr17 | 1681967 | A | G |
c.506T>C
|
p.Phe169Ser
|
- | 3.0 |
|
B | |
| 26151 | chr17 | 1682277 | G | A |
c.286C>T
|
p.Pro96Ser
|
- | 3.0 |
|
B | |
| 6930 | chr17 | 1682289 | G | C |
c.274C>G
|
p.Leu92Val
|
3.0 |
|
B | ||
| 22662 | chr17 | 1683685 | T | C |
c.117A>G
|
p.Gln39=
|
2.0 |
|
B | ||
| 6015 | chr17 | 1683701 | G | A |
c.101C>T
|
p.Ala34Val
|
- | 3.0 |
|
B | |
| 3271 | chr17 | 1734049 | C | T |
c.5012C>T
|
p.Thr1671Ile
|
3.0 |
|
B | ||
| 30368 | chr17 | 1843939 | C | T |
c.104C>T
|
p.Thr35Met
|
3.0 |
|
B | ||
| 14761 | chr17 | 1844678 | A | T |
c.264A>T
|
p.Lys88Asn
|
- | 3.0 |
|
B | |
| 26633 | chr17 | 1877270 | C | T |
c.646C>T
|
p.Arg216Ter
|
3.0 |
|
B | ||
| 25593 | chr17 | 1879067 | G | A |
c.759+6G>A
|
-
|
- | 3.0 |
|
B | |
| 14005 | chr17 | 1879069 | C | T |
c.759+8C>T
|
-
|
3.0 |
|
B | ||
| 28243 | chr17 | 1879365 | G | A |
c.910G>A
|
p.Gly304Arg
|
- | 3.0 |
|
B | |
| 25169 | chr17 | 1880613 | G | A |
c.1163G>A
|
p.Gly388Glu
|
- | 3.0 |
|
B | |
| 31534 | chr17 | 1895101 | T | TTGCTTGTGGTACTACCTACTTGGG |
c.1746+6_1746+7insTGCTTGTGGTACTACCTACTTGGG
|
-
|
- | 3.0 |
|
B |