Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 32676 | chr20 | 58842350 | T | C |
c.43+1464T>C
|
-
|
3.0 |
|
B | ||
| 14651 | chr20 | 58853365 | C | T |
c.100C>T
|
p.Pro34Ser
|
- | 3.0 |
|
B | |
| 30398 | chr20 | 58853461 | G | T |
c.196G>T
|
p.Glu66Ter
|
- | 3.0 |
|
B | |
| 15374 | chr20 | 58853495 | A | G |
c.230A>G
|
p.Asn77Ser
|
- | 3.0 |
|
B | |
| 5982 | chr20 | 58853562 | G | A |
c.297G>A
|
p.Glu99=
|
- | 3.0 |
|
B | |
| 8459 | chr20 | 58853645 | TC | T |
c.382del
|
p.His128MetfsTer562
|
- | 3.0 |
|
B | |
| 28443 | chr20 | 58853688 | C | T |
c.423C>T
|
p.Pro141=
|
3.0 |
|
B | ||
| 31942 | chr20 | 58853848 | C | A |
c.583C>A
|
p.Pro195Thr
|
- | 3.0 |
|
B | |
| 16165 | chr20 | 58853952 | T | C |
c.687T>C
|
p.Asp229=
|
- | 3.0 |
|
B | |
| 9448 | chr20 | 58853956 | G | T |
c.691G>T
|
p.Glu231Ter
|
- | 3.0 |
|
B | |
| 27957 | chr20 | 58854074 | C | T |
c.809C>T
|
p.Ala270Val
|
3.0 |
|
B | ||
| 34788 | chr20 | 58854075 | G | A |
c.810G>A
|
p.Ala270=
|
3.0 |
|
B | ||
| 23541 | chr20 | 58854192 | C | T |
c.927C>T
|
p.Phe309=
|
2.5 |
|
B | ||
| 32395 | chr20 | 58854196 | A | G |
c.931A>G
|
p.Ile311Val
|
- | 3.0 |
|
B | |
| 19240 | chr20 | 58854234 | C | G |
c.969C>G
|
p.Val323=
|
- | 3.0 |
|
B | |
| 13385 | chr20 | 58854258 | G | A |
c.993G>A
|
p.Ala331=
|
3.0 |
|
B | ||
| 1274 | chr20 | 58854308 | G | A |
c.1043G>A
|
p.Arg348Gln
|
3.0 |
|
B | ||
| 14614 | chr20 | 58854429 | G | A |
c.1164G>A
|
p.Ala388=
|
3.0 |
|
B | ||
| 22585 | chr20 | 58854435 | C | A |
c.1170C>A
|
p.Thr390=
|
3.0 |
|
B | ||
| 23543 | chr20 | 58854519 | C | A |
c.1254C>A
|
p.Ala418=
|
3.0 |
|
B |