Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 33091 | chr2 | 168924757 | C | A |
c.3665G>T
|
p.Gly1222Val
|
- | 3.0 |
|
B | |
| 6910 | chr2 | 168924788 | C | T |
c.3634G>A
|
p.Val1212Ile
|
3.0 |
|
B | ||
| 2020 | chr2 | 168924806 | GAA | G |
c.3619-5_3619-4del
|
-
|
- | 3.0 |
|
B | |
| 30573 | chr2 | 168927260 | C | T |
c.3514G>A
|
p.Asp1172Asn
|
- | 3.0 |
|
B | |
| 3145 | chr2 | 168927305 | C | T |
c.3469G>A
|
p.Gly1157Arg
|
- | 3.0 |
|
B | |
| 27013 | chr2 | 168927343 | C | G |
c.3431G>C
|
p.Ser1144Thr
|
- | 3.0 |
|
B | |
| 34562 | chr2 | 168927382 | C | T |
c.3412-20G>A
|
-
|
- | 3.0 |
|
B | |
| 19961 | chr2 | 168930712 | T | C |
c.3364A>G
|
p.Ser1122Gly
|
- | 3.0 |
|
B | |
| 5061 | chr2 | 168930755 | C | A |
c.3321G>T
|
p.Gln1107His
|
- | 3.0 |
|
B | |
| 22078 | chr2 | 168932531 | AC | A |
c.3058del
|
p.Val1020Ter
|
- | 3.0 |
|
B | |
| 14180 | chr2 | 168935209 | C | T |
c.3031G>A
|
p.Gly1011Arg
|
- | 3.0 |
|
B | |
| 26282 | chr2 | 168935293 | A | T |
c.2947T>A
|
p.Phe983Ile
|
- | 3.0 |
|
B | |
| 6856 | chr2 | 168936310 | C | G |
c.2734G>C
|
p.Ala912Pro
|
- | 3.0 |
|
B | |
| 24544 | chr2 | 168944589 | C | T |
c.2610+16G>A
|
-
|
3.0 |
|
B | ||
| 22258 | chr2 | 168944838 | G | A |
c.2448+19C>T
|
-
|
- | 3.0 |
|
B | |
| 25913 | chr2 | 168957966 | C | A |
c.2341G>T
|
p.Gly781Trp
|
- | 3.0 |
|
B | |
| 30817 | chr2 | 168957969 | G | A |
c.2338C>T
|
p.Leu780Phe
|
3.0 |
|
B | ||
| 33594 | chr2 | 168964297 | C | G |
c.2087G>C
|
p.Arg696Pro
|
- | 3.0 |
|
B | |
| 15793 | chr2 | 168964308 | C | T |
c.2076G>A
|
p.Arg692=
|
3.0 |
|
B | ||
| 10495 | chr2 | 168968510 | C | A |
c.2012-20G>T
|
-
|
3.0 |
|
B |