Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 22116 | chr2 | 176131549 | C | T |
c.810C>T
|
p.Asp270=
|
3.0 |
|
B | ||
| 13472 | chr2 | 177231112 | T | TAA |
c.1489_1490dup
|
p.Leu497PhefsTer2
|
- | 3.0 |
|
B | |
| 34999 | chr2 | 177231651 | C | T |
c.952G>A
|
p.Asp318Asn
|
- | 3.0 |
|
B | |
| 32411 | chr2 | 177231929 | TTGTCAACTTC | T |
c.664_673del
|
p.Glu222IlefsTer15
|
- | 3.0 |
|
B | |
| 26059 | chr2 | 177232400 | C | T |
c.586G>A
|
p.Glu196Lys
|
- | 3.0 |
|
B | |
| 29489 | chr2 | 177232416 | C | G |
c.570G>C
|
p.Glu190Asp
|
- | 3.0 |
|
B | |
| 25793 | chr2 | 177232427 | C | G |
c.559G>C
|
p.Val187Leu
|
- | 3.0 |
|
B | |
| 35529 | chr2 | 177233992 | G | A |
c.312+13C>T
|
-
|
3.0 |
|
B | ||
| 23436 | chr2 | 177234075 | C | A |
c.242G>T
|
p.Gly81Val
|
- | 3.0 |
|
B | |
| 30841 | chr2 | 177234078 | G | T |
c.239C>A
|
p.Thr80Lys
|
4.5 |
|
B | ||
| 1422 | chr2 | 177234082 | C | G |
c.235G>C
|
p.Glu79Gln
|
4.0 |
|
B | ||
| 35590 | chr2 | 177234082 | C | T |
c.235G>A
|
p.Glu79Lys
|
3.5 |
|
B | ||
| 9724 | chr2 | 177234087 | T | C |
c.230A>G
|
p.Asp77Gly
|
- | 3.5 |
|
B | |
| 1470 | chr2 | 177234190 | GTCGCTGACTGAAGTCAAATAC | G |
c.106_126del
|
p.Val36_Arg42del
|
- | 3.0 |
|
B | |
| 28351 | chr2 | 177234209 | T | C |
c.108A>G
|
p.Val36=
|
- | 3.0 |
|
B | |
| 6274 | chr2 | 177234225 | C | G |
c.92G>C
|
p.Gly31Ala
|
- | 3.0 |
|
B | |
| 24745 | chr2 | 177234231 | T | C |
c.86A>G
|
p.Asp29Gly
|
4.0 |
|
B | ||
| 18031 | chr2 | 177234234 | A | G |
c.83T>C
|
p.Ile28Thr
|
- | 3.0 |
|
B | |
| 15392 | chr2 | 177234238 | C | G |
c.79G>C
|
p.Asp27His
|
- | 3.0 |
|
B | |
| 33137 | chr2 | 177234247 | A | G |
c.70T>C
|
p.Trp24Arg
|
3.5 |
|
B |