Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1893 | chr15 | 40217619 | G | C |
c.2802G>C
|
p.Gln934His
|
3.0 |
|
B | ||
| 15599 | chr15 | 40217685 | C | T |
c.2850+18C>T
|
-
|
2.5 |
|
B | ||
| 1428 | chr15 | 40220656 | C | G |
c.3050C>G
|
p.Ala1017Gly
|
- | 3.0 |
|
B | |
| 12363 | chr15 | 40220718 | G | T |
c.3112G>T
|
p.Val1038Leu
|
- | 3.5 |
|
B | |
| 12295 | chr15 | 40382858 | C | T |
-
c.23C>T
|
-
p.Pro8Leu
|
3.0 |
|
B | ||
| 15422 | chr15 | 40382861 | T | C |
-
c.26T>C
|
-
p.Leu9Pro
|
3.0 |
|
B | ||
| 18903 | chr15 | 40382863 | G | C |
-
c.28G>C
|
-
p.Asp10His
|
- | 3.0 |
|
B | |
| 25253 | chr15 | 40382905 | TC | T |
-
c.73del
|
-
p.His25ThrfsTer19
|
3.0 |
|
B | ||
| 30197 | chr15 | 40382906 | C | T |
-
c.71C>T
|
-
p.Ser24Phe
|
3.5 |
|
B | ||
| 33446 | chr15 | 40382967 | C | CGGT |
-
c.135_137dup
|
-
p.Gly46dup
|
- | 3.0 |
|
B | |
| 22167 | chr15 | 40383009 | CGAGAAGGACTGCGGGCAGGACCGGCG | C |
-
c.176_201del
|
-
p.Glu59GlyfsTer17
|
- | 3.0 |
|
B | |
| 16811 | chr15 | 40383028 | G | A |
-
c.193G>A
|
-
p.Asp65Asn
|
- | 3.0 |
|
B | |
| 29985 | chr15 | 40383331 | C | A |
-
c.304+9C>A
|
-
-
|
- | 3.0 |
|
B | |
| 14110 | chr15 | 40386373 | C | G |
c.316C>G
|
p.Arg106Gly
|
- | 3.0 |
|
B | |
| 17832 | chr15 | 40389611 | G | T |
c.591G>T
|
p.Gln197His
|
- | 3.0 |
|
B | |
| 11552 | chr15 | 40698837 | C | T |
c.79C>T
|
p.Arg27Trp
|
3.0 |
|
B | ||
| 19098 | chr15 | 40701066 | G | A |
c.90G>A
|
p.Gln30=
|
- | 2.0 |
|
B | |
| 17710 | chr15 | 40701110 | G | A |
c.134G>A
|
p.Gly45Glu
|
- | 3.0 |
|
B | |
| 28139 | chr15 | 40706165 | T | G |
c.226-12T>G
|
-
|
- | 3.0 |
|
B | |
| 34914 | chr15 | 40706246 | A | G |
c.295A>G
|
p.Ile99Val
|
- | 3.0 |
|
B |