Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 29446 | chr11 | 118484247 | C | G |
c.4151C>G
|
p.Ser1384Cys
|
- | 3.0 |
|
B | |
| 17942 | chr11 | 118484276 | C | T |
c.4180C>T
|
p.Pro1394Ser
|
- | 3.0 |
|
B | |
| 8939 | chr11 | 118484922 | C | T |
c.4279C>T
|
p.Pro1427Ser
|
- | 3.0 |
|
B | |
| 21122 | chr11 | 118484962 | G | A |
c.4319G>A
|
p.Ser1440Asn
|
- | 3.0 |
|
B | |
| 6936 | chr11 | 118488612 | A | G |
c.4333-2A>G
|
p.?
|
- | 3.5 |
|
B | |
| 33464 | chr11 | 118488719 | A | T |
c.4438A>T
|
p.Lys1480Ter
|
- | 4.0 |
|
B | |
| 21172 | chr11 | 118489900 | C | T |
c.4575+13C>T
|
-
|
- | 3.0 |
|
B | |
| 28109 | chr11 | 118490157 | G | A |
c.4604G>A
|
p.Ser1535Asn
|
- | 3.0 |
|
B | |
| 22360 | chr11 | 118491199 | A | T |
c.4700A>T
|
p.Asn1567Ile
|
- | 3.0 |
|
B | |
| 9675 | chr11 | 118491779 | A | C |
c.4855A>C
|
p.Ser1619Arg
|
- | 3.0 |
|
B | |
| 11624 | chr11 | 118495768 | G | A |
c.5432G>A
|
p.Arg1811Gln
|
3.0 |
|
B | ||
| 2795 | chr11 | 118497995 | G | C |
c.5724G>C
|
p.Leu1908Phe
|
- | 3.0 |
|
B | |
| 23948 | chr11 | 118498413 | G | GTC |
c.5849_5850dup
|
p.Thr1951SerfsTer34
|
- | 3.5 |
|
B | |
| 31462 | chr11 | 118499795 | CTCATAATCTTCTCTAATCGGTTCTTCTTTCCTTGGTCAGGG | C |
c.6080-37_6083del
|
p.?
|
- | 4.0 |
|
B | |
| 8054 | chr11 | 118501028 | G | A |
c.6200G>A
|
p.Arg2067His
|
3.0 |
|
B | ||
| 14832 | chr11 | 118501828 | C | T |
c.6476C>T
|
p.Ser2159Phe
|
- | 3.0 |
|
B | |
| 21279 | chr11 | 118501876 | C | T |
c.6505+19C>T
|
-
|
3.0 |
|
B | ||
| 4380 | chr11 | 118502463 | C | T |
c.6571C>T
|
p.Arg2191Ter
|
3.0 |
|
B | ||
| 21486 | chr11 | 118502523 | C | T |
c.6631C>T
|
p.Arg2211Trp
|
3.0 |
|
B | ||
| 15265 | chr11 | 118502761 | A | G |
c.6869A>G
|
p.Glu2290Gly
|
- | 3.0 |
|
B |