Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 8828 | chr13 | 24498177 | C | T |
c.530G>A
|
p.Arg177Gln
|
3.0 |
|
B | ||
| 4256 | chr13 | 24501752 | G | C |
c.215C>G
|
p.Ala72Gly
|
- | 3.0 |
|
B | |
| 6859 | chr13 | 24501777 | T | C |
c.190A>G
|
p.Ile64Val
|
3.0 |
|
B | ||
| 27516 | chr13 | 24503784 | G | A |
c.-1-7C>T
|
-
|
3.0 |
|
B | ||
| 4738 | chr13 | 25251930 | C | T |
c.1401G>A
|
p.Lys467=
|
3.0 |
|
B | ||
| 20116 | chr13 | 26254627 | T | C |
c.-15T>C
|
-
|
- | 3.0 |
|
B | |
| 35024 | chr13 | 26254690 | G | A |
c.49G>A
|
p.Glu17Lys
|
- | 3.0 |
|
B | |
| 25426 | chr13 | 26254744 | G | C |
c.103G>C
|
p.Val35Leu
|
- | 3.0 |
|
B | |
| 13343 | chr13 | 26337556 | T | C |
c.129-11T>C
|
-
|
- | 3.0 |
|
B | |
| 30342 | chr13 | 26337574 | G | A |
c.136G>A
|
p.Asp46Asn
|
- | 3.0 |
|
B | |
| 6787 | chr13 | 26349144 | G | A |
c.277G>A
|
p.Val93Met
|
- | 3.0 |
|
B | |
| 20647 | chr13 | 26353812 | TC | T |
c.389del
|
p.Ser130TyrfsTer7
|
- | 3.0 |
|
B | |
| 1538 | chr13 | 26353875 | G | C |
c.451G>C
|
p.Asp151His
|
- | 3.0 |
|
B | |
| 10994 | chr13 | 26382815 | A | G |
c.458A>G
|
p.Lys153Arg
|
- | 3.0 |
|
B | |
| 11788 | chr13 | 26382823 | A | G |
c.466A>G
|
p.Asn156Asp
|
- | 3.0 |
|
B | |
| 33856 | chr13 | 26385213 | G | C |
c.517G>C
|
p.Asp173His
|
- | 3.0 |
|
B | |
| 13404 | chr13 | 26385294 | C | T |
c.598C>T
|
p.Arg200Ter
|
3.0 |
|
B | ||
| 11519 | chr13 | 26393358 | G | T |
c.647-9G>T
|
-
|
2.0 |
|
B | ||
| 12292 | chr13 | 26393477 | G | A |
c.757G>A
|
p.Asp253Asn
|
- | 3.0 |
|
B | |
| 13990 | chr13 | 26396347 | A | T |
c.853A>T
|
p.Arg285Ter
|
- | 3.0 |
|
B |