Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 24461 | chr17 | 58703295 | A | T |
c.671A>T
|
p.Tyr224Phe
|
- | 3.0 |
|
B | |
| 454 | chr17 | 58709926 | G | C |
c.773G>C
|
p.Arg258Pro
|
3.0 |
|
S | ||
| 6507 | chr17 | 58709986 | T | C |
c.833T>C
|
p.Leu278Ser
|
3.0 |
|
B | ||
| 17387 | chr17 | 58720788 | C | T |
c.880C>T
|
p.Gln294Ter
|
- | 4.0 |
|
B | |
| 18419 | chr17 | 58732468 | C | T |
c.966-16C>T
|
-
|
- | 3.0 |
|
B | |
| 34927 | chr17 | 58734187 | C | G |
c.1096C>G
|
p.Arg366Gly
|
- | 3.0 |
|
B | |
| 14356 | chr17 | 58999447 | C | T |
c.2825G>A
|
p.Ser942Asn
|
- | 3.0 |
|
B | |
| 10117 | chr17 | 59001624 | A | C |
c.2786T>G
|
p.Met929Arg
|
- | 3.0 |
|
B | |
| 29573 | chr17 | 59012348 | G | T |
c.2675C>A
|
p.Ala892Asp
|
- | 3.0 |
|
B | |
| 2562 | chr17 | 59012447 | C | A |
c.2577-1G>T
|
p.?
|
- | 3.0 |
|
B | |
| 34070 | chr17 | 59015620 | C | T |
c.2566G>A
|
p.Val856Ile
|
3.0 |
|
B | ||
| 684 | chr17 | 59015703 | C | T |
c.2483G>A
|
p.Arg828Gln
|
3.0 |
|
B | ||
| 20162 | chr17 | 59015803 | C | CA |
c.2387-5dup
|
-
|
3.0 |
|
B | ||
| 5665 | chr17 | 59017305 | G | C |
c.2377C>G
|
p.Leu793Val
|
3.0 |
|
B | ||
| 9302 | chr17 | 59028535 | G | A |
c.2137C>T
|
p.Leu713Phe
|
- | 3.0 |
|
B | |
| 9071 | chr17 | 59028631 | G | C |
c.2041C>G
|
p.Gln681Glu
|
- | 3.0 |
|
B | |
| 12645 | chr17 | 59041908 | T | C |
c.1668-10A>G
|
-
|
2.5 |
|
B | ||
| 8489 | chr17 | 59047740 | G | C |
c.1610C>G
|
p.Ser537Cys
|
3.0 |
|
B | ||
| 1086 | chr17 | 59057044 | G | A |
c.1030C>T
|
p.Arg344Cys
|
3.0 |
|
B | ||
| 21918 | chr17 | 59062576 | T | A |
c.933A>T
|
p.Lys311Asn
|
- | 3.0 |
|
B |