Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 18725 | chr13 | 94711402 | GGCCGCC | G |
c.642_647del
|
p.Ala218_Ala219del
|
- | 3.0 |
|
B | |
| 18726 | chr13 | 94711417 | C | G |
c.633G>C
|
p.Ala211=
|
3.0 |
|
B | ||
| 18727 | chr13 | 94711420 | C | G |
c.630G>C
|
p.Ala210=
|
3.0 |
|
B | ||
| 17354 | chr13 | 94711550 | C | G |
c.500G>C
|
p.Gly167Ala
|
- | 3.0 |
|
B | |
| 22927 | chr13 | 94711690 | C | T |
c.360G>A
|
p.Gly120=
|
3.0 |
|
B | ||
| 18519 | chr13 | 94711733 | G | C |
c.317C>G
|
p.Ala106Gly
|
- | 3.0 |
|
B | |
| 19734 | chr13 | 94711893 | C | A |
c.157G>T
|
p.Glu53Ter
|
- | 3.5 |
|
B | |
| 28999 | chr13 | 94711938 | T | A |
c.112A>T
|
p.Ile38Phe
|
- | 3.0 |
|
B | |
| 4117 | chr13 | 95021687 | A | G |
c.3871-5T>C
|
-
|
3.0 |
|
B | ||
| 27294 | chr13 | 101722832 | T | C |
c.743A>G
|
p.Ter248TrpextTer17
|
- | 3.0 |
|
B | |
| 27101 | chr13 | 101722841 | T | G |
c.734A>C
|
p.Lys245Thr
|
- | 3.0 |
|
B | |
| 21791 | chr13 | 101722901 | G | T |
c.674C>A
|
p.Pro225Gln
|
- | 3.0 |
|
B | |
| 1318 | chr13 | 101722904 | G | A |
c.671C>T
|
p.Thr224Met
|
3.0 |
|
B | ||
| 32079 | chr13 | 101722907 | A | G |
c.668T>C
|
p.Val223Ala
|
- | 3.0 |
|
B | |
| 21973 | chr13 | 101726721 | T | A |
c.498A>T
|
p.Glu166Asp
|
- | 3.0 |
|
B | |
| 11161 | chr13 | 101726763 | A | AT |
c.455dup
|
p.Asn152LysfsTer18
|
- | 3.5 |
|
B | |
| 13526 | chr13 | 101868790 | C | A |
c.343G>T
|
p.Ala115Ser
|
- | 3.0 |
|
B | |
| 25719 | chr13 | 101875260 | C | A |
c.230G>T
|
p.Cys77Phe
|
- | 3.0 |
|
B | |
| 26578 | chr13 | 101916433 | C | A |
c.193+20G>T
|
-
|
3.0 |
|
B | ||
| 9488 | chr13 | 101916605 | C | T |
c.41G>A
|
p.Arg14Gln
|
- | 3.0 |
|
B |