Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 13193 | chr11 | 89295278 | G | A |
c.1502G>A
|
p.Arg501His
|
3.0 |
|
B | ||
| 15826 | chr11 | 89711442 | GA | G |
c.453del
|
p.Lys151AsnfsTer8
|
3.0 |
|
B | ||
| 31918 | chr11 | 92352115 | G | T |
c.3G>T
|
p.Met1?
|
- | 3.0 |
|
B | |
| 33071 | chr11 | 92352285 | C | T |
c.173C>T
|
p.Ala58Val
|
- | 3.0 |
|
B | |
| 9331 | chr11 | 92352371 | G | A |
c.259G>A
|
p.Asp87Asn
|
- | 3.0 |
|
B | |
| 25951 | chr11 | 92352416 | T | A |
c.304T>A
|
p.Phe102Ile
|
- | 3.0 |
|
B | |
| 15146 | chr11 | 92352510 | T | A |
c.398T>A
|
p.Val133Asp
|
- | 3.0 |
|
B | |
| 21987 | chr11 | 92352636 | C | T |
c.524C>T
|
p.Thr175Ile
|
- | 3.0 |
|
B | |
| 13661 | chr11 | 92352759 | G | C |
c.647G>C
|
p.Ser216Thr
|
- | 3.0 |
|
B | |
| 30629 | chr11 | 92352765 | G | A |
c.653G>A
|
p.Arg218Gln
|
3.0 |
|
B | ||
| 6359 | chr11 | 92352786 | A | T |
c.674A>T
|
p.Asn225Ile
|
- | 3.0 |
|
B | |
| 11394 | chr11 | 92352794 | G | A |
c.682G>A
|
p.Asp228Asn
|
- | 3.0 |
|
B | |
| 8785 | chr11 | 92352808 | G | T |
c.696G>T
|
p.Leu232Phe
|
- | 3.0 |
|
B | |
| 11500 | chr11 | 92352842 | A | G |
c.730A>G
|
p.Asn244Asp
|
3.0 |
|
B | ||
| 5569 | chr11 | 92352893 | G | T |
c.781G>T
|
p.Glu261Ter
|
3.0 |
|
B | ||
| 25634 | chr11 | 92353011 | C | T |
c.899C>T
|
p.Ser300Phe
|
- | 3.0 |
|
B | |
| 27158 | chr11 | 92353119 | G | A |
c.1007G>A
|
p.Ser336Asn
|
- | 3.0 |
|
B | |
| 3184 | chr11 | 92353156 | A | C |
c.1044A>C
|
p.Lys348Asn
|
- | 3.0 |
|
B | |
| 9078 | chr11 | 92353284 | C | T |
c.1172C>T
|
p.Pro391Leu
|
- | 3.0 |
|
B | |
| 24776 | chr11 | 92353304 | G | A |
c.1192G>A
|
p.Val398Ile
|
- | 3.0 |
|
B |