Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 2636 | chr11 | 118472435 | C | T |
c.1276C>T
|
p.Arg426Trp
|
- | 3.0 |
|
B | |
| 33363 | chr11 | 118472436 | G | A |
c.1277G>A
|
p.Arg426Gln
|
- | 3.0 |
|
B | |
| 22910 | chr11 | 118472651 | G | A |
c.1492G>A
|
p.Val498Ile
|
3.0 |
|
B | ||
| 10473 | chr11 | 118473101 | T | C |
c.1942T>C
|
p.Phe648Leu
|
- | 3.0 |
|
B | |
| 1008 | chr11 | 118473470 | A | AC |
c.2318dup
|
p.Ser774ValfsTer12
|
4.0 |
|
B | ||
| 1573 | chr11 | 118473480 | C | T |
c.2321C>T
|
p.Ser774Phe
|
- | 3.0 |
|
B | |
| 23802 | chr11 | 118473743 | C | T |
c.2584C>T
|
p.Arg862Ter
|
- | 3.0 |
|
B | |
| 8094 | chr11 | 118473899 | GAGA | G |
c.2743_2745del
|
p.Lys915del
|
- | 3.0 |
|
B | |
| 27160 | chr11 | 118473939 | C | T |
c.2780C>T
|
p.Ala927Val
|
- | 3.0 |
|
B | |
| 8902 | chr11 | 118474082 | G | T |
c.2923G>T
|
p.Asp975Tyr
|
- | 3.0 |
|
B | |
| 4510 | chr11 | 118474164 | C | T |
c.3005C>T
|
p.Ser1002Phe
|
- | 3.0 |
|
B | |
| 34481 | chr11 | 118474256 | C | G |
c.3097C>G
|
p.Gln1033Glu
|
- | 3.0 |
|
B | |
| 29932 | chr11 | 118476889 | C | T |
c.3241C>T
|
p.Arg1081Ter
|
- | 3.5 |
|
B | |
| 9348 | chr11 | 118478170 | G | A |
c.3538G>A
|
p.Gly1180Ser
|
- | 3.0 |
|
B | |
| 16930 | chr11 | 118480169 | C | T |
c.3570-5C>T
|
-
|
3.0 |
|
B | ||
| 26499 | chr11 | 118481764 | C | A |
c.3684C>A
|
p.Ser1228Arg
|
- | 3.0 |
|
B | |
| 34482 | chr11 | 118481906 | GTCTCGGCC | G |
c.3827_3834del
|
p.Val1276AlafsTer4
|
- | 4.0 |
|
B | |
| 32746 | chr11 | 118481912 | G | A |
c.3832G>A
|
p.Ala1278Thr
|
- | 3.0 |
|
B | |
| 6837 | chr11 | 118482478 | C | T |
c.4069C>T
|
p.Gln1357Ter
|
- | 3.5 |
|
B | |
| 12193 | chr11 | 118482514 | C | T |
c.4086+19C>T
|
-
|
- | 3.0 |
|
B |