Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 23546 | chr21 | 10605545 | C | A |
c.1649C>A
|
p.Ser550Tyr
|
- | 3.0 |
|
B | |
| 25861 | chr21 | 10605552 | A | T |
c.1656A>T
|
p.Ter552TyrextTer2
|
- | 3.0 |
|
B | |
| 34522 | chr21 | 14163481 | ATCCTTTCTTTTAAAACACCT | A |
c.924_943del
|
p.Lys308AsnfsTer7
|
- | 3.0 |
|
B | |
| 34523 | chr21 | 14163505 | A | AT |
c.919_920insA
|
p.Phe307TyrfsTer2
|
- | 3.0 |
|
B | |
| 34524 | chr21 | 14163507 | TAGCTTGGCTTGATAACCTGAGATTTGAGAAATAGAACATTAGAAATTGGATTTCCATCAAATAACAAAAA | T |
c.902-54_917del
|
p.?
|
- | 3.0 |
|
B | |
| 20186 | chr21 | 14966008 | CT | C |
c.2184del
|
p.Glu729ArgfsTer5
|
2.5 |
|
B | ||
| 19851 | chr21 | 28966883 | AT | A |
c.1607del
|
p.Asn536MetfsTer33
|
3.0 |
|
B | ||
| 19814 | chr21 | 28966883 | ATT | A |
c.1606_1607del
|
p.Asn536TrpfsTer2
|
3.0 |
|
B | ||
| 3324 | chr21 | 29046943 | G | A |
c.1633G>A
|
p.Asp545Asn
|
- | 3.0 |
|
B | |
| 2618 | chr21 | 32771485 | A | G |
c.184T>C
|
p.Ser62Pro
|
- | 3.0 |
|
B | |
| 5236 | chr21 | 33559975 | G | GCTTGGTT |
c.6657+201_6657+202insTTGGTTC
|
-
|
- | 3.0 |
|
B | |
| 3000 | chr21 | 34792147 | C | G |
c.1431G>C
|
p.Trp477Cys
|
- | 3.0 |
|
B | |
| 19179 | chr21 | 34792178 | G | A |
c.1400C>T
|
p.Ala467Val
|
2.5 |
|
B | ||
| 16953 | chr21 | 34792226 | T | TC |
c.1351dup
|
p.Asp451GlyfsTer149
|
- | 4.0 |
|
B | |
| 25702 | chr21 | 34792275 | C | T |
c.1303G>A
|
p.Ala435Thr
|
- | 3.0 |
|
B | |
| 4235 | chr21 | 34792308 | A | G |
c.1270T>C
|
p.Ser424Pro
|
3.0 |
|
B | ||
| 16182 | chr21 | 34792476 | T | C |
c.1102A>G
|
p.Met368Val
|
- | 3.0 |
|
B | |
| 29349 | chr21 | 34792507 | CG | C |
c.1070del
|
p.Pro357ArgfsTer237
|
- | 4.5 |
|
B | |
| 28777 | chr21 | 34792550 | G | A |
c.1028C>T
|
p.Ser343Phe
|
- | 3.0 |
|
B | |
| 29035 | chr21 | 34792554 | TGGAGGGCAGC | T |
c.1014_1023del
|
p.Leu339SerfsTer252
|
- | 4.0 |
|
B |