Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 9009 | chr13 | 24447185 | A | G |
c.3116T>C
|
p.Ile1039Thr
|
2.0 |
|
B | ||
| 31569 | chr13 | 24452397 | G | C |
c.3014+9C>G
|
-
|
- | 3.0 |
|
B | |
| 29898 | chr13 | 24455045 | C | G |
c.2730G>C
|
p.Gln910His
|
- | 3.0 |
|
B | |
| 24146 | chr13 | 24469020 | A | G |
c.2133+4T>C
|
-
|
3.0 |
|
B | ||
| 33214 | chr13 | 24469076 | A | C |
c.2081T>G
|
p.Leu694Arg
|
3.0 |
|
B | ||
| 15098 | chr13 | 24469881 | C | G |
c.2046+13G>C
|
-
|
- | 3.0 |
|
B | |
| 1166 | chr13 | 24469901 | A | ACTATGTGCTTC |
c.2028_2038dup
|
p.Val680GlyfsTer4
|
- | 3.0 |
|
B | |
| 26387 | chr13 | 24470034 | G | GA |
c.1915-10dup
|
-
|
3.0 |
|
B | ||
| 9918 | chr13 | 24475526 | C | A |
c.1860G>T
|
p.Leu620Phe
|
3.0 |
|
B | ||
| 15421 | chr13 | 24475613 | T | C |
c.1790-17A>G
|
-
|
3.0 |
|
B | ||
| 29872 | chr13 | 24478176 | C | T |
c.1549G>A
|
p.Asp517Asn
|
3.0 |
|
B | ||
| 13403 | chr13 | 24478188 | A | C |
c.1537T>G
|
p.Leu513Val
|
- | 3.0 |
|
B | |
| 34532 | chr13 | 24478285 | G | A |
c.1449-9C>T
|
-
|
3.0 |
|
B | ||
| 16804 | chr13 | 24484680 | C | T |
c.1421G>A
|
p.Ser474Asn
|
- | 3.0 |
|
B | |
| 23184 | chr13 | 24484729 | C | T |
c.1372G>A
|
p.Val458Ile
|
3.0 |
|
B | ||
| 6262 | chr13 | 24486184 | C | T |
c.1336G>A
|
p.Val446Met
|
3.0 |
|
B | ||
| 33265 | chr13 | 24486189 | T | C |
c.1331A>G
|
p.Asn444Ser
|
3.0 |
|
B | ||
| 11054 | chr13 | 24490651 | A | G |
c.1214+17T>C
|
-
|
- | 3.0 |
|
B | |
| 26618 | chr13 | 24490706 | A | C |
c.1176T>G
|
p.Phe392Leu
|
- | 3.0 |
|
B | |
| 21659 | chr13 | 24490707 | A | T |
c.1175T>A
|
p.Phe392Tyr
|
- | 3.0 |
|
B |