Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 25017 | chr13 | 40665721 | G | C |
c.492C>G
|
p.Ser164=
|
- | 3.0 |
|
B | |
| 4849 | chr13 | 41375454 | G | A |
c.2447G>A
|
p.Cys816Tyr
|
3.0 |
|
B | ||
| 4851 | chr13 | 43882353 | A | ACCTTTATT |
c.733_734insTTTATTCC
-
|
p.Arg245LeufsTer5
-
|
- | 3.0 |
|
B | |
| 4850 | chr13 | 43882354 | CCGAATAAA | C |
c.733_740del
-
|
p.Arg245AspfsTer6
-
|
- | 3.0 |
|
B | |
| 3330 | chr13 | 44949840 | T | A |
c.1022-2A>T
|
p.?
|
3.0 |
|
B | ||
| 5207 | chr13 | 45713230 | C | T |
c.205C>T
|
p.Pro69Ser
|
- | 3.0 |
|
B | |
| 8903 | chr13 | 46130846 | A | T |
c.1719T>A
|
p.Asn573Lys
|
- | 3.0 |
|
B | |
| 29447 | chr13 | 46142292 | C | T |
c.1502G>A
|
p.Arg501Lys
|
- | 3.0 |
|
B | |
| 9927 | chr13 | 46142771 | A | AAAC |
c.1369-347_1369-346insGTT
|
-
|
- | 3.0 |
|
B | |
| 7739 | chr13 | 46143341 | C | T |
c.1317G>A
|
p.Trp439Ter
|
3.0 |
|
B | ||
| 11105 | chr13 | 46147000 | T | C |
c.1082A>G
|
p.Lys361Arg
|
3.0 |
|
B | ||
| 25578 | chr13 | 46147012 | C | G |
c.1070G>C
|
p.Arg357Pro
|
3.0 |
|
B | ||
| 19677 | chr13 | 46148402 | C | CT |
c.927dup
|
p.Gly310ArgfsTer3
|
- | 3.0 |
|
B | |
| 4432 | chr13 | 46148420 | C | T |
c.910G>A
|
p.Glu304Lys
|
3.0 |
|
B | ||
| 32291 | chr13 | 46152858 | G | A |
c.661C>T
|
p.Pro221Ser
|
- | 3.0 |
|
B | |
| 32292 | chr13 | 46152859 | C | G |
c.660G>C
|
p.Lys220Asn
|
- | 3.0 |
|
B | |
| 20843 | chr13 | 46152952 | G | A |
c.574-7C>T
|
-
|
- | 3.0 |
|
B | |
| 24186 | chr13 | 46154807 | G | C |
c.571C>G
|
p.Gln191Glu
|
- | 3.0 |
|
B | |
| 15874 | chr13 | 46156424 | G | A |
c.491+14C>T
|
-
|
3.0 |
|
B | ||
| 12533 | chr13 | 46158512 | T | C |
c.358+10A>G
|
-
|
3.0 |
|
B |