Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 11367 | chr15 | 90760908 | GA | G |
c.1544del
|
p.Asn515MetfsTer16
|
4.0 |
|
B | ||
| 25925 | chr15 | 90763070 | TTTGGCCTGCATAA | T |
c.1990_2002del
|
p.Gly664LeufsTer6
|
- | 4.0 |
|
B | |
| 20038 | chr15 | 90766977 | CA | C |
c.2268del
|
p.Asp757ThrfsTer4
|
4.5 |
|
B | ||
| 20403 | chr15 | 90767025 | T | C |
c.2307+2T>C
|
p.?
|
- | 4.0 |
|
B | |
| 30726 | chr15 | 90769137 | G | A |
c.2312G>A
|
p.Cys771Tyr
|
3.0 |
|
B | ||
| 19752 | chr15 | 90769420 | AT | A |
c.2407-9del
|
-
|
2.0 |
|
B | ||
| 7632 | chr15 | 90804244 | A | C |
c.3636A>C
|
p.Glu1212Asp
|
3.0 |
|
B | ||
| 3203 | chr15 | 90804286 | C | A |
c.3678C>A
|
p.Cys1226Ter
|
4.0 |
|
B | ||
| 34945 | chr15 | 90811864 | C | G |
c.4076+458C>G
|
-
|
- | 3.0 |
|
B | |
| 29142 | chr15 | 90885185 | T | C |
c.140T>C
-
|
p.Leu47Pro
-
|
- | 3.0 |
|
B | |
| 2276 | chr15 | 90885405 | T | C |
c.214-7T>C
-
|
-
-
|
3.0 |
|
B | ||
| 25688 | chr15 | 90885520 | G | C |
c.322G>C
-
|
p.Glu108Gln
-
|
- | 3.0 |
|
B | |
| 22775 | chr15 | 90885591 | C | T |
c.387+6C>T
-
|
-
-
|
3.0 |
|
B | ||
| 34633 | chr15 | 90887012 | C | T |
c.439C>T
-
|
p.Arg147Trp
-
|
3.0 |
|
B | ||
| 13640 | chr15 | 90887195 | C | T |
c.493C>T
-
|
p.Arg165Cys
-
|
3.0 |
|
B | ||
| 9919 | chr15 | 90887236 | G | T |
c.534G>T
-
|
p.Lys178Asn
-
|
- | 3.0 |
|
B | |
| 11839 | chr15 | 90891593 | C | T |
c.1570C>T
|
p.Pro524Ser
|
- | 3.0 |
|
B | |
| 7968 | chr15 | 90892731 | G | C |
c.1732G>C
|
p.Gly578Arg
|
- | 3.0 |
|
B | |
| 34634 | chr15 | 90892789 | C | T |
c.1790C>T
|
p.Pro597Leu
|
3.0 |
|
B | ||
| 6999 | chr15 | 90892815 | C | T |
c.1816C>T
|
p.Gln606Ter
|
3.0 |
|
B |