Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 16135 | chr20 | 58910698 | A | T |
c.1054A>T
|
p.Ser352Cys
|
- | 3.0 |
|
B | |
| 11222 | chr20 | 58996604 | C | A |
-
c.801+35G>T
|
-
-
|
- | 3.0 |
|
B | |
| 11223 | chr20 | 58996604 | C | G |
-
c.801+35G>C
|
-
-
|
3.0 |
|
B | ||
| 20184 | chr20 | 59891991 | AT | A |
c.2362del
|
p.Met788Ter
|
3.0 |
|
B | ||
| 24824 | chr20 | 62140808 | C | T |
-
c.223+10G>A
|
-
-
|
3.0 |
|
B | ||
| 32873 | chr20 | 62159881 | C | T |
c.151C>T
|
p.Gln51Ter
|
- | 3.0 |
|
B | |
| 26277 | chr20 | 62163503 | C | T |
c.602C>T
|
p.Ala201Val
|
3.0 |
|
B | ||
| 29676 | chr20 | 62165410 | C | T |
c.824-12C>T
|
-
|
3.0 |
|
B | ||
| 24112 | chr20 | 62172666 | C | T |
c.917-16C>T
|
-
|
3.0 |
|
B | ||
| 20431 | chr20 | 62174556 | A | G |
c.1076A>G
|
p.Gln359Arg
|
- | 3.0 |
|
B | |
| 24950 | chr20 | 62174631 | A | G |
c.1151A>G
|
p.Tyr384Cys
|
- | 3.0 |
|
B | |
| 18007 | chr20 | 63319532 | C | T |
c.2852C>T
|
p.Ala951Val
|
- | 3.0 |
|
B | |
| 25389 | chr20 | 63529594 | C | CAGGA |
c.1297_1298insTCCT
|
p.Cys433PhefsTer33
|
- | 3.0 |
|
B | |
| 30027 | chr20 | 63530086 | G | C |
c.1160C>G
|
p.Pro387Arg
|
- | 3.0 |
|
B | |
| 28294 | chr20 | 63530144 | A | G |
c.1102T>C
|
p.Ser368Pro
|
- | 3.0 |
|
B | |
| 16631 | chr20 | 63530232 | C | T |
c.1015-1G>A
|
p.?
|
3.0 |
|
B | ||
| 28653 | chr20 | 63530733 | C | A |
c.1014+13G>T
|
-
|
- | 3.0 |
|
B | |
| 27374 | chr20 | 63532523 | C | T |
c.832+3G>A
|
-
|
3.0 |
|
B | ||
| 31048 | chr20 | 63532525 | C | T |
c.832+1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 17466 | chr20 | 63533686 | G | GT |
-
c.534_535insA
|
-
p.Pro179ThrfsTer5
|
- | 3.0 |
|
B |