Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1860 | chr1 | 114718183 | C | T |
c.2383G>A
-
|
p.Gly795Ser
-
|
- | 3.0 |
|
B | |
| 19507 | chr1 | 114718220 | T | TG |
c.2350-5dup
-
|
-
-
|
3.0 |
|
B | ||
| 12041 | chr1 | 114718229 | GA | G |
c.2350-14del
-
|
-
-
|
3.0 |
|
B | ||
| 19290 | chr1 | 114719675 | T | C |
c.2120A>G
-
|
p.Asp707Gly
-
|
- | 3.0 |
|
B | |
| 19365 | chr1 | 114719745 | GA | G |
c.2053-4del
-
|
-
-
|
3.0 |
|
B | ||
| 3232 | chr1 | 114720540 | T | G |
c.2051A>C
-
|
p.Gln684Pro
-
|
- | 3.0 |
|
B | |
| 32253 | chr1 | 114720571 | G | A |
c.2020C>T
-
|
p.Arg674Cys
-
|
- | 3.0 |
|
B | |
| 7078 | chr1 | 114723924 | G | C |
c.1832C>G
|
p.Thr611Arg
|
- | 3.0 |
|
B | |
| 18506 | chr1 | 114725352 | A | G |
c.1641-19T>C
|
-
|
- | 3.0 |
|
B | |
| 32574 | chr1 | 114726266 | T | G |
c.1585A>C
|
p.Asn529His
|
- | 3.0 |
|
B | |
| 30948 | chr1 | 114726289 | C | G |
c.1562G>C
|
p.Gly521Ala
|
- | 3.0 |
|
B | |
| 13630 | chr1 | 114726329 | G | A |
c.1522C>T
|
p.Arg508Ter
|
3.0 |
|
B | ||
| 5921 | chr1 | 114730387 | C | G |
c.1227G>C
|
p.Arg409Ser
|
- | 3.0 |
|
B | |
| 22708 | chr1 | 114730525 | C | G |
c.1174G>C
|
p.Glu392Gln
|
- | 3.0 |
|
B | |
| 28886 | chr1 | 114730599 | T | A |
c.1100A>T
|
p.Asp367Val
|
- | 3.0 |
|
B | |
| 25089 | chr1 | 114732662 | G | T |
c.992C>A
|
p.Ala331Glu
|
- | 3.0 |
|
B | |
| 24801 | chr1 | 114732683 | C | T |
c.971G>A
|
p.Arg324Gln
|
3.0 |
|
B | ||
| 19366 | chr1 | 114732704 | C | A |
c.950G>T
|
p.Arg317Met
|
- | 3.0 |
|
B | |
| 20719 | chr1 | 114733722 | G | C |
c.837+10C>G
|
-
|
3.0 |
|
B | ||
| 26687 | chr1 | 114734501 | T | C |
c.523A>G
|
p.Asn175Asp
|
- | 3.0 |
|
B |