Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 6070 | chr11 | 35620699 | GA | G |
c.*760del
|
-
|
1.5 |
|
B | ||
| 19701 | chr11 | 36376105 | AT | A |
c.-125-24880del
|
-
|
2.5 |
|
B | ||
| 21524 | chr11 | 44107865 | G | T |
c.153G>T
|
p.Glu51Asp
|
- | 3.0 |
|
B | |
| 15050 | chr11 | 44107888 | A | G |
c.176A>G
|
p.Glu59Gly
|
3.0 |
|
B | ||
| 22050 | chr11 | 44108119 | C | G |
c.407C>G
|
p.Ala136Gly
|
- | 3.0 |
|
B | |
| 29850 | chr11 | 44109201 | C | T |
c.544C>T
|
p.Arg182Ter
|
4.0 |
|
B | ||
| 14942 | chr11 | 44109256 | A | C |
c.599A>C
|
p.Asn200Thr
|
- | 3.0 |
|
B | |
| 19649 | chr11 | 44124772 | GT | G |
c.744-10del
|
-
|
3.0 |
|
B | ||
| 27157 | chr11 | 44124781 | C | T |
c.744-8C>T
|
-
|
- | 2.0 |
|
B | |
| 14943 | chr11 | 44124856 | G | A |
c.811G>A
|
p.Ala271Thr
|
- | 3.0 |
|
B | |
| 1253 | chr11 | 44124895 | G | A |
c.850G>A
|
p.Asp284Asn
|
3.0 |
|
B | ||
| 7358 | chr11 | 44124911 | T | A |
c.866T>A
|
p.Leu289His
|
- | 3.0 |
|
B | |
| 29561 | chr11 | 44124941 | G | A |
c.896G>A
|
p.Arg299His
|
2.0 |
|
B | ||
| 641 | chr11 | 44126898 | C | T |
c.1022C>T
|
p.Pro341Leu
|
2.5 |
|
B | ||
| 16781 | chr11 | 44144237 | C | T |
c.1173+14099C>T
|
-
|
3.0 |
|
B | ||
| 14944 | chr11 | 44144262 | G | A |
c.1173+14124G>A
|
-
|
- | 3.0 |
|
B | |
| 27293 | chr11 | 44171684 | A | T |
c.1247A>T
|
p.Asp416Val
|
- | 3.0 |
|
B | |
| 10081 | chr11 | 44206835 | G | T |
c.1538G>T
|
p.Arg513Met
|
- | 3.0 |
|
B | |
| 32549 | chr11 | 44232396 | G | A |
c.1706G>A
|
p.Arg569His
|
- | 3.0 |
|
B | |
| 9065 | chr11 | 44232455 | G | A |
c.1765G>A
|
p.Glu589Lys
|
- | 3.0 |
|
B |