Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 29654 | chr13 | 28035497 | G | A |
c.1595C>T
|
p.Pro532Leu
|
- | 3.0 |
|
B | |
| 8734 | chr13 | 28035676 | G | GA |
c.1419-4dup
|
-
|
2.5 |
|
B | ||
| 7515 | chr13 | 28035676 | GA | G |
c.1419-4del
|
-
|
3.0 |
|
B | ||
| 2960 | chr13 | 28035962 | C | T |
c.1391G>A
|
p.Trp464Ter
|
- | 3.0 |
|
B | |
| 9922 | chr13 | 28035967 | C | A |
c.1386G>T
|
p.Trp462Cys
|
- | 3.0 |
|
B | |
| 1237 | chr13 | 28036001 | G | A |
c.1352C>T
|
p.Ser451Phe
|
- | 3.0 |
|
B | |
| 23000 | chr13 | 28037172 | C | T |
c.1309+13G>A
|
-
|
- | 3.0 |
|
B | |
| 14466 | chr13 | 28037199 | G | A |
c.1295C>T
|
p.Thr432Met
|
3.0 |
|
B | ||
| 16931 | chr13 | 28048270 | C | T |
c.1205+5G>A
|
-
|
- | 3.0 |
|
B | |
| 23767 | chr13 | 28048309 | G | A |
c.1171C>T
|
p.Pro391Ser
|
- | 3.0 |
|
B | |
| 1574 | chr13 | 28048404 | TA | T |
c.1075del
|
p.Tyr359MetfsTer75
|
- | 3.0 |
|
B | |
| 10007 | chr13 | 28049643 | G | C |
c.874C>G
|
p.Leu292Val
|
- | 3.0 |
|
B | |
| 32664 | chr13 | 28049733 | G | A |
c.784C>T
|
p.Leu262Phe
|
3.0 |
|
B | ||
| 29950 | chr13 | 28050079 | G | C |
c.742+16C>G
|
-
|
- | 3.0 |
|
B | |
| 2500 | chr13 | 28052586 | C | A |
c.573G>T
|
p.Glu191Asp
|
- | 3.0 |
|
B | |
| 565 | chr13 | 28052606 | T | G |
c.553A>C
|
p.Ile185Leu
|
- | 3.0 |
|
B | |
| 11075 | chr13 | 28061951 | A | C |
c.284T>G
|
p.Val95Gly
|
- | 3.0 |
|
B | |
| 5970 | chr13 | 28100479 | A | G |
c.32T>C
|
p.Leu11Pro
|
3.0 |
|
B | ||
| 15359 | chr13 | 28303198 | G | A |
c.3986C>T
|
p.Ser1329Leu
|
3.0 |
|
B | ||
| 3189 | chr13 | 28306714 | C | T |
c.3779G>A
|
p.Trp1260Ter
|
- | 3.0 |
|
B |