Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 6834 | chr18 | 51078329 | A | C |
c.1521A>C
|
p.Lys507Asn
|
- | 3.0 |
|
B | |
| 8412 | chr18 | 51078329 | A | T |
c.1521A>T
|
p.Lys507Asn
|
- | 3.0 |
|
B | |
| 1988 | chr18 | 51078336 | G | A |
c.1528G>A
|
p.Gly510Arg
|
- | 3.0 |
|
B | |
| 2679 | chr18 | 51078352 | G | C |
c.1544G>C
|
p.Arg515Thr
|
- | 3.0 |
|
B | |
| 1390 | chr18 | 51078377 | C | G |
c.1569C>G
|
p.Cys523Trp
|
- | 3.0 |
|
B | |
| 2594 | chr18 | 51078379 | G | A |
c.1571G>A
|
p.Trp524Ter
|
- | 4.0 |
|
B | |
| 15962 | chr18 | 51078380 | G | T |
c.1572G>T
|
p.Trp524Cys
|
- | 3.0 |
|
B | |
| 28790 | chr18 | 51078384 | G | T |
c.1576G>T
|
p.Glu526Ter
|
- | 4.5 |
|
B | |
| 8592 | chr18 | 51078394 | TAC | T |
c.1589_1590del
|
p.His530ProfsTer46
|
- | 4.0 |
|
B | |
| 9029 | chr18 | 51078400 | G | A |
c.1592G>A
|
p.Arg531Gln
|
3.0 |
|
B | ||
| 7569 | chr18 | 51078403 | C | A |
c.1595C>A
|
p.Ala532Asp
|
3.5 |
|
B | ||
| 16260 | chr18 | 51078412 | TCCTAGACGAAGTACTTCATA | T |
c.1607_1626del
|
p.Leu536HisfsTer34
|
- | 4.0 |
|
B | |
| 31724 | chr18 | 51078415 | T | C |
c.1607T>C
|
p.Leu536Pro
|
- | 3.0 |
|
B | |
| 5861 | chr18 | 51078415 | TAGACG | T |
c.1609_1613del
|
p.Asp537SerfsTer38
|
- | 4.0 |
|
B | |
| 5019 | chr18 | 51078420 | G | T |
c.1612G>T
|
p.Glu538Ter
|
4.5 |
|
B | ||
| 3320 | chr18 | 54224163 | T | C |
c.397A>G
|
p.Ser133Gly
|
- | 3.0 |
|
B | |
| 3321 | chr18 | 54224169 | A | G |
c.391T>C
|
p.Ser131Pro
|
- | 3.0 |
|
B | |
| 4775 | chr18 | 54329362 | C | T |
c.464G>A
|
p.Cys155Tyr
|
- | 3.0 |
|
B | |
| 2692 | chr18 | 57357446 | G | A |
c.836G>A
|
p.Gly279Glu
|
3.0 |
|
B | ||
| 5265 | chr18 | 57731754 | A | AT |
c.53dup
|
p.Asn18LysfsTer2
|
- | 3.0 |
|
B |