Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 22818 | chr1 | 35192733 | G | A |
c.317C>T
|
p.Ser106Phe
|
3.0 |
|
B | ||
| 13569 | chr1 | 35192736 | TCCTGCGGCGGTG | T |
c.302_313del
|
p.Pro101_Asp105delinsHis
|
- | 3.0 |
|
B | |
| 27662 | chr1 | 35192786 | CGGCGGCTGATGCGGT | C |
c.249_263del
|
p.Gln86_His90del
|
3.0 |
|
B | ||
| 31234 | chr1 | 35193006 | C | T |
c.44G>A
|
p.Gly15Asp
|
- | 3.0 |
|
B | |
| 21441 | chr1 | 35193103 | T | C |
c.-54A>G
|
-
|
3.0 |
|
B | ||
| 19502 | chr1 | 35381358 | GA | G |
c.1290del
|
p.Lys430AsnfsTer6
|
3.0 |
|
B | ||
| 19360 | chr1 | 35558058 | CT | C |
-
c.-121del
|
-
-
|
1.0 |
|
B | ||
| 4118 | chr1 | 35850173 | A | G |
c.2192A>G
|
p.Asn731Ser
|
3.0 |
|
B | ||
| 4472 | chr1 | 36097880 | C | T |
c.1801G>A
-
|
p.Gly601Ser
-
|
3.0 |
|
B | ||
| 31120 | chr1 | 36282669 | T | TCC |
c.107_108insCC
|
p.Arg39LeufsTer8
|
- | 3.0 |
|
B | |
| 16667 | chr1 | 36286355 | C | T |
c.138-13C>T
|
-
|
- | 3.0 |
|
B | |
| 33379 | chr1 | 36286435 | C | G |
c.205C>G
|
p.Gln69Glu
|
- | 3.0 |
|
B | |
| 33380 | chr1 | 36286556 | C | T |
c.326C>T
|
p.Ser109Leu
|
- | 3.0 |
|
B | |
| 14572 | chr1 | 36286778 | C | A |
c.548C>A
|
p.Ser183Tyr
|
- | 3.0 |
|
B | |
| 16668 | chr1 | 36286876 | G | A |
c.646G>A
|
p.Ala216Thr
|
- | 3.0 |
|
B | |
| 26519 | chr1 | 36287209 | A | G |
c.979A>G
|
p.Thr327Ala
|
- | 3.0 |
|
B | |
| 26686 | chr1 | 36289053 | T | TA |
c.1041-4dup
|
-
|
2.5 |
|
B | ||
| 22819 | chr1 | 36289523 | G | A |
c.1504G>A
|
p.Glu502Lys
|
- | 3.0 |
|
B | |
| 23017 | chr1 | 36289595 | TA | T |
c.1577del
|
p.Tyr526LeufsTer72
|
- | 3.0 |
|
B | |
| 25747 | chr1 | 36289754 | G | A |
c.1735G>A
|
p.Asp579Asn
|
- | 3.0 |
|
B |