Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 20548 | chr2 | 99554741 | A | T |
c.3286-9T>A
|
-
|
- | 3.0 |
|
B | |
| 21996 | chr2 | 99558940 | G | A |
c.3220C>T
|
p.Arg1074Trp
|
3.0 |
|
B | ||
| 25985 | chr2 | 99558960 | C | T |
c.3200G>A
|
p.Cys1067Tyr
|
- | 3.0 |
|
B | |
| 24363 | chr2 | 99565623 | C | T |
c.2983G>A
|
p.Val995Met
|
- | 3.0 |
|
B | |
| 21782 | chr2 | 99568910 | C | T |
c.2924G>A
|
p.Arg975His
|
3.0 |
|
B | ||
| 30172 | chr2 | 99568911 | G | A |
c.2923C>T
|
p.Arg975Cys
|
3.0 |
|
B | ||
| 29822 | chr2 | 99578315 | G | A |
c.2918+12C>T
|
-
|
2.5 |
|
B | ||
| 12707 | chr2 | 99582853 | G | A |
c.2738C>T
|
p.Ser913Phe
|
- | 3.0 |
|
B | |
| 28380 | chr2 | 99593252 | G | C |
c.2409C>G
|
p.Ser803Arg
|
- | 3.0 |
|
B | |
| 21142 | chr2 | 99593308 | C | T |
c.2353G>A
|
p.Glu785Lys
|
3.0 |
|
B | ||
| 33668 | chr2 | 99593545 | G | C |
c.2116C>G
|
p.Gln706Glu
|
3.0 |
|
B | ||
| 3769 | chr2 | 99593608 | G | C |
c.2053C>G
|
p.Gln685Glu
|
- | 3.0 |
|
B | |
| 3770 | chr2 | 99593617 | CCAGGT | C |
c.2039_2043del
|
p.Asp680GlyfsTer24
|
- | 3.0 |
|
B | |
| 25656 | chr2 | 99593618 | CAG | C |
c.2041_2042del
|
p.Leu681GlyfsTer24
|
- | 3.0 |
|
B | |
| 25013 | chr2 | 99593622 | T | A |
c.2039A>T
|
p.Asp680Val
|
- | 3.0 |
|
B | |
| 25657 | chr2 | 99593623 | C | CCT |
c.2037_2038insAG
|
p.Asp680ArgfsTer30
|
- | 3.0 |
|
B | |
| 3771 | chr2 | 99593623 | C | CGACCT |
c.2037_2038insAGGTC
|
p.Asp680ArgfsTer31
|
- | 3.0 |
|
B | |
| 20657 | chr2 | 99593703 | C | T |
c.1958G>A
|
p.Arg653Gln
|
- | 3.0 |
|
B | |
| 17091 | chr2 | 99593704 | G | A |
c.1957C>T
|
p.Arg653Trp
|
3.0 |
|
B | ||
| 30171 | chr2 | 99593730 | G | A |
c.1931C>T
|
p.Ser644Phe
|
- | 3.0 |
|
B |