Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 27364 | chr17 | 35103547 | G | A |
c.577-3C>T
|
-
|
3.0 |
|
B | ||
| 7793 | chr17 | 35106387 | T | C |
c.575A>G
|
p.Gln192Arg
|
3.0 |
|
B | ||
| 3584 | chr17 | 35106472 | G | A |
c.490C>T
|
p.Leu164Phe
|
3.0 |
|
B | ||
| 34184 | chr17 | 35106981 | C | T |
c.480+7G>A
|
-
|
2.5 |
|
B | ||
| 8830 | chr17 | 35107074 | C | T |
c.394G>A
|
p.Val132Ile
|
2.5 |
|
B | ||
| 19220 | chr17 | 35107075 | G | GT |
c.392dup
|
p.Asn131LysfsTer23
|
- | 4.0 |
|
B | |
| 30231 | chr17 | 35107092 | G | A |
c.376C>T
|
p.His126Tyr
|
- | 3.0 |
|
B | |
| 19221 | chr17 | 35107440 | T | A |
c.271A>T
|
p.Lys91Ter
|
- | 4.0 |
|
B | |
| 21552 | chr17 | 35116979 | G | A |
c.263+1522C>T
-
|
-
-
|
- | 3.5 |
|
B | |
| 2284 | chr17 | 35119543 | C | T |
c.71G>A
-
|
p.Arg24Lys
-
|
2.5 |
|
B | ||
| 14975 | chr17 | 35119616 | T | A |
c.-3A>T
-
|
-
-
|
- | 3.0 |
|
B | |
| 6235 | chr17 | 35119736 | G | C |
c.-123C>G
-
|
-
-
|
- | 3.0 |
|
B | |
| 16262 | chr17 | 35119761 | G | A |
c.-148C>T
-
|
-
-
|
3.0 |
|
B | ||
| 24128 | chr17 | 35119797 | CG | C |
c.-185del
-
|
-
-
|
- | 3.0 |
|
B | |
| 18810 | chr17 | 35352373 | G | A |
c.2689C>T
|
p.Pro897Ser
|
- | 3.0 |
|
B | |
| 12581 | chr17 | 35352447 | G | A |
c.2615C>T
|
p.Thr872Ile
|
- | 3.0 |
|
B | |
| 9809 | chr17 | 35352460 | T | A |
c.2602A>T
|
p.Ile868Phe
|
- | 3.0 |
|
B | |
| 21933 | chr17 | 35352855 | G | A |
c.2207C>T
|
p.Pro736Leu
|
- | 3.0 |
|
B | |
| 17895 | chr17 | 35353011 | G | T |
c.2051C>A
|
p.Ala684Glu
|
- | 3.0 |
|
B | |
| 28287 | chr17 | 35353041 | C | T |
c.2021G>A
|
p.Arg674His
|
3.0 |
|
B |