Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 19059 | chr5 | 225459 | A | G |
c.353A>G
|
p.Asn118Ser
|
3.0 |
|
B | ||
| 19060 | chr5 | 225543 | C | T |
c.437C>T
|
p.Ala146Val
|
3.0 |
|
B | ||
| 24246 | chr5 | 228163 | CT | C |
c.622-13del
|
-
|
1.0 |
|
B | ||
| 24124 | chr5 | 228163 | CTT | C |
c.622-14_622-13del
|
-
|
2.5 |
|
B | ||
| 25307 | chr5 | 228315 | A | G |
c.752A>G
|
p.Asn251Ser
|
- | 3.0 |
|
B | |
| 10969 | chr5 | 230865 | A | G |
c.771-11A>G
|
-
|
1.5 |
|
B | ||
| 11974 | chr5 | 230881 | A | T |
c.776A>T
|
p.Tyr259Phe
|
- | 3.0 |
|
B | |
| 21268 | chr5 | 230951 | G | T |
c.846G>T
|
p.Arg282Ser
|
- | 3.0 |
|
B | |
| 10629 | chr5 | 231015 | C | T |
c.895+15C>T
|
-
|
3.0 |
|
B | ||
| 19915 | chr5 | 233475 | A | G |
c.896-2A>G
|
p.?
|
- | 4.0 |
|
B | |
| 14924 | chr5 | 233566 | C | T |
c.985C>T
|
p.Arg329Ter
|
5.0 |
|
B | ||
| 24892 | chr5 | 235246 | CT | C |
c.1169del
|
p.Phe390SerfsTer33
|
- | 4.0 |
|
B | |
| 14320 | chr5 | 236428 | G | A |
c.1261G>A
|
p.Val421Ile
|
- | 3.0 |
|
B | |
| 28633 | chr5 | 236440 | G | A |
c.1273G>A
|
p.Val425Met
|
2.5 |
|
B | ||
| 32121 | chr5 | 236527 | G | A |
c.1360G>A
|
p.Ala454Thr
|
3.0 |
|
B | ||
| 980 | chr5 | 240460 | G | A |
c.1535G>A
|
p.Arg512Gln
|
3.0 |
|
B | ||
| 15067 | chr5 | 250986 | C | T |
c.1552-6C>T
|
-
|
- | 2.0 |
|
B | |
| 35673 | chr5 | 251097 | G | A |
c.1657G>A
|
p.Asp553Asn
|
3.0 |
|
B | ||
| 14925 | chr5 | 251108 | G | A |
c.1663+5G>A
|
-
|
- | 3.5 |
|
B | |
| 28311 | chr5 | 251445 | G | A |
c.1771G>A
|
p.Ala591Thr
|
3.0 |
|
B |