Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 33634 | chr17 | 7899995 | G | A |
c.2644G>A
|
p.Val882Ile
|
- | 3.0 |
|
B | |
| 8907 | chr17 | 7900731 | A | C |
c.2978A>C
|
p.Lys993Thr
|
- | 3.0 |
|
B | |
| 11233 | chr17 | 7901356 | G | A |
c.3233G>A
|
p.Arg1078Gln
|
- | 3.0 |
|
B | |
| 12528 | chr17 | 7903062 | G | A |
c.3495+1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 11520 | chr17 | 7903324 | G | A |
c.3548G>A
|
p.Arg1183Gln
|
- | 3.0 |
|
B | |
| 34642 | chr17 | 7903333 | C | T |
c.3557C>T
|
p.Thr1186Ile
|
- | 3.0 |
|
B | |
| 29351 | chr17 | 7903446 | G | C |
c.3670G>C
|
p.Glu1224Gln
|
3.0 |
|
B | ||
| 34925 | chr17 | 7905622 | G | T |
c.4140G>T
|
p.Gly1380=
|
- | 3.0 |
|
B | |
| 2213 | chr17 | 7905672 | C | T |
c.4190C>T
|
p.Pro1397Leu
|
- | 3.0 |
|
B | |
| 20156 | chr17 | 7907206 | C | T |
c.4747C>T
|
p.Pro1583Ser
|
3.0 |
|
B | ||
| 1576 | chr17 | 7907441 | G | A |
c.4877G>A
|
p.Gly1626Glu
|
- | 3.0 |
|
B | |
| 6506 | chr17 | 7908017 | C | T |
c.5150C>T
|
p.Thr1717Ile
|
- | 3.0 |
|
B | |
| 17934 | chr17 | 7908430 | ACGGGCAGCTATTT | A |
c.5183_5195del
-
|
p.Arg1728ProfsTer57
-
|
- | 3.0 |
|
B | |
| 12376 | chr17 | 7908497 | GCTGGGATTGTCCTGTATCCTTTGATACA | G |
c.5250_5261+16del
-
|
p.?
-
|
- | 3.0 |
|
B | |
| 15997 | chr17 | 7909183 | G | A |
c.5435G>A
-
|
p.Arg1812Gln
-
|
- | 3.0 |
|
B | |
| 10587 | chr17 | 7909336 | AG | A |
c.5590+1del
-
|
p.?
-
|
- | 3.0 |
|
B | |
| 28711 | chr17 | 7909357 | C | T |
c.5590+19C>T
-
|
-
-
|
- | 3.0 |
|
B | |
| 21577 | chr17 | 7910435 | C | A |
c.5598C>A
-
|
p.Asn1866Lys
-
|
- | 3.0 |
|
B | |
| 25171 | chr17 | 7910583 | C | T |
c.5746C>T
-
|
p.Pro1916Ser
-
|
- | 3.0 |
|
B | |
| 23965 | chr17 | 7910915 | G | C |
c.5823G>C
-
|
p.Gly1941=
-
|
- | 3.0 |
|
B |