Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 2384 | chr11 | 72233667 | A | C |
c.2135A>C
|
p.Asp712Ala
|
- | 3.0 |
|
B | |
| 5011 | chr11 | 72233691 | C | T |
c.2159C>T
|
p.Pro720Leu
|
- | 3.0 |
|
B | |
| 4371 | chr11 | 72234370 | G | T |
c.2302G>T
-
|
p.Glu768Ter
-
|
3.0 |
|
B | ||
| 25698 | chr11 | 72234395 | G | T |
c.2326+1G>T
-
|
p.?
-
|
- | 3.5 |
|
B | |
| 30160 | chr11 | 72235418 | AC | A |
c.2627del
-
|
p.Thr876ArgfsTer82
-
|
- | 3.5 |
|
B | |
| 23070 | chr11 | 72235738 | G | A |
c.2723G>A
-
|
p.Gly908Glu
-
|
3.0 |
|
B | ||
| 22802 | chr11 | 72235826 | C | T |
c.2739-20C>T
-
|
-
-
|
- | 3.0 |
|
B | |
| 22356 | chr11 | 72235838 | C | T |
c.2739-8C>T
-
|
-
-
|
- | 3.0 |
|
B | |
| 7811 | chr11 | 72237143 | C | T |
c.2899C>T
-
|
p.Pro967Ser
-
|
- | 3.0 |
|
B | |
| 30288 | chr11 | 72237270 | T | G |
c.3026T>G
-
|
p.Val1009Gly
-
|
- | 3.0 |
|
B | |
| 20096 | chr11 | 72237483 | G | A |
c.3239G>A
-
|
p.Arg1080His
-
|
3.0 |
|
B | ||
| 20060 | chr11 | 72237703 | GC | G |
c.3466del
-
|
p.Arg1156GlyfsTer46
-
|
3.5 |
|
B | ||
| 15825 | chr11 | 72237710 | CG | C |
c.3470del
-
|
p.Gly1157AspfsTer45
-
|
3.5 |
|
B | ||
| 28488 | chr11 | 72237803 | G | A |
c.3552+7G>A
-
|
-
-
|
3.0 |
|
B | ||
| 23289 | chr11 | 72238081 | G | A |
c.3592G>A
-
|
p.Glu1198Lys
-
|
3.0 |
|
B | ||
| 24869 | chr11 | 72238081 | G | T |
c.3592G>T
-
|
p.Glu1198Ter
-
|
- | 3.5 |
|
B | |
| 30390 | chr11 | 72238092 | G | C |
c.3603G>C
-
|
p.Met1201Ile
-
|
- | 3.0 |
|
B | |
| 3183 | chr11 | 72238135 | G | A |
c.3646G>A
-
|
p.Gly1216Ser
-
|
- | 3.0 |
|
B | |
| 5584 | chr11 | 72238148 | A | G |
c.3659A>G
-
|
p.Asn1220Ser
-
|
- | 3.0 |
|
B | |
| 5784 | chr11 | 72238180 | G | T |
c.3686+5G>T
-
|
-
-
|
- | 3.0 |
|
B |