Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 4154 | chr13 | 48380190 | C | T |
c.1447C>T
|
p.His483Tyr
|
- | 3.0 |
|
B | |
| 9315 | chr13 | 48380239 | G | A |
c.1496G>A
|
p.Ser499Asn
|
2.5 |
|
B | ||
| 19732 | chr13 | 48381227 | C | CT |
c.1499-10dup
|
-
|
2.0 |
|
B | ||
| 11309 | chr13 | 48381227 | CT | C |
c.1499-10del
|
-
|
2.0 |
|
B | ||
| 2480 | chr13 | 48381251 | TAC | T |
c.1505_1506del
|
p.Thr502IlefsTer5
|
- | 4.0 |
|
B | |
| 507 | chr13 | 48381252 | AC | A |
c.1505del
|
p.Thr502AsnfsTer17
|
- | 4.0 |
|
B | |
| 25166 | chr13 | 48381258 | C | T |
c.1510C>T
|
p.Gln504Ter
|
4.5 |
|
B | ||
| 33576 | chr13 | 48381292 | C | CA |
c.1545dup
|
p.Trp516MetfsTer7
|
- | 4.0 |
|
B | |
| 11761 | chr13 | 48381296 | GA | G |
c.1549del
|
p.Ile517PhefsTer2
|
- | 4.0 |
|
B | |
| 7864 | chr13 | 48381309 | CTTAATTTAAAAGCCT | C |
c.1564_1578del
|
p.Asn522_Phe526del
|
- | 3.0 |
|
B | |
| 27821 | chr13 | 48381316 | TA | T |
c.1572del
|
p.Ala525ProfsTer7
|
- | 4.5 |
|
B | |
| 31705 | chr13 | 48381335 | C | A |
c.1587C>A
|
p.Tyr529Ter
|
4.0 |
|
B | ||
| 10739 | chr13 | 48381345 | G | C |
c.1597G>C
|
p.Glu533Gln
|
3.0 |
|
B | ||
| 9456 | chr13 | 48381356 | C | CA |
c.1611dup
|
p.Ala538SerfsTer17
|
- | 4.0 |
|
B | |
| 31291 | chr13 | 48381394 | A | G |
c.1646A>G
|
p.His549Arg
|
- | 3.0 |
|
B | |
| 23242 | chr13 | 48381402 | C | T |
c.1654C>T
|
p.Arg552Ter
|
4.5 |
|
B | ||
| 33598 | chr13 | 48381404 | AT | A |
c.1657del
|
p.Cys553ValfsTer58
|
- | 4.0 |
|
B | |
| 58 | chr13 | 48381408 | G | A |
c.1660G>A
|
p.Glu554Lys
|
- | 3.0 |
|
B | |
| 5797 | chr13 | 48381414 | C | T |
c.1666C>T
|
p.Arg556Ter
|
5.0 |
|
B | ||
| 35577 | chr13 | 48381432 | G | C |
c.1684G>C
|
p.Ala562Pro
|
- | 3.0 |
|
B |