Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 21537 | chr15 | 40709015 | G | A |
c.344-10G>A
|
-
|
3.0 |
|
B | ||
| 17529 | chr15 | 40729536 | G | A |
c.676G>A
|
p.Ala226Thr
|
3.0 |
|
B | ||
| 4756 | chr15 | 41388525 | G | A |
c.760-3C>T
|
-
|
3.0 |
|
B | ||
| 3698 | chr15 | 41521063 | TTGCCCACAC | T |
c.3114_3122del
|
p.Cys1039_Gln1041del
|
- | 3.0 |
|
B | |
| 3699 | chr15 | 41521074 | G | GGTGTGGGCA |
c.3111_3112insTGCCCACAC
|
p.Pro1037_Arg1038insCysProHis
|
- | 3.0 |
|
B | |
| 12341 | chr15 | 41573000 | A | T |
c.1876-2A>T
|
p.?
|
3.0 |
|
B | ||
| 12342 | chr15 | 41573001 | G | T |
c.1876-1G>T
|
p.?
|
3.0 |
|
B | ||
| 15127 | chr15 | 41668959 | C | G |
c.65C>G
|
p.Pro22Arg
|
3.0 |
|
B | ||
| 5045 | chr15 | 41669360 | G | T |
c.466G>T
|
p.Val156Phe
|
- | 3.0 |
|
B | |
| 5304 | chr15 | 41669408 | C | T |
c.514C>T
|
p.Gln172Ter
|
- | 3.5 |
|
B | |
| 25720 | chr15 | 41669585 | ACTGAATTCTTTGCAGTAACAGCTTATCAGAACATTCAGATTACTCAGCTGAAAATAGATTACAATCCATTTGCCAAAGGCTTTCGGGATGATGGG | A |
c.698_792del
|
p.Phe233Ter
|
- | 4.0 |
|
B | |
| 32445 | chr15 | 41669593 | C | G |
c.699C>G
|
p.Phe233Leu
|
- | 3.0 |
|
B | |
| 23122 | chr15 | 41669652 | C | T |
c.758C>T
|
p.Pro253Leu
|
- | 3.0 |
|
B | |
| 25721 | chr15 | 41669737 | GAAT | G |
c.848_850del
|
p.Asn283del
|
3.0 |
|
B | ||
| 6698 | chr15 | 41669767 | G | A |
c.873G>A
|
p.Arg291=
|
- | 3.0 |
|
B | |
| 10623 | chr15 | 41669868 | C | T |
c.974C>T
|
p.Ser325Phe
|
- | 3.0 |
|
B | |
| 21326 | chr15 | 41669939 | A | T |
c.1045A>T
|
p.Lys349Ter
|
- | 4.0 |
|
B | |
| 7098 | chr15 | 41696143 | A | C |
c.1133A>C
|
p.Asn378Thr
|
- | 3.0 |
|
B | |
| 11992 | chr15 | 41696212 | CTG | C |
c.1205_1206del
|
p.Val402GlufsTer7
|
- | 4.0 |
|
B | |
| 24706 | chr15 | 41696341 | A | C |
c.1331A>C
|
p.Lys444Thr
|
- | 3.0 |
|
B |