Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 28450 | chr1 | 202013937 | TC | T |
c.916del
|
p.Leu306CysfsTer19
|
- | 4.0 |
|
B | |
| 5510 | chr1 | 202013995 | G | T |
c.972G>T
|
p.Met324Ile
|
- | 3.0 |
|
B | |
| 29355 | chr1 | 202014001 | C | A |
c.978C>A
|
p.Tyr326Ter
|
- | 4.0 |
|
B | |
| 18363 | chr1 | 202014002 | G | A |
c.979G>A
|
p.Glu327Lys
|
3.0 |
|
B | ||
| 31809 | chr1 | 202014023 | A | AG |
c.1001+1dup
|
p.?
|
- | 4.0 |
|
B | |
| 31027 | chr1 | 202015225 | G | A |
c.1018G>A
|
p.Glu340Lys
|
3.0 |
|
B | ||
| 28289 | chr1 | 202015237 | C | CGG |
c.1032_1033dup
|
p.Val345GlyfsTer103
|
- | 4.0 |
|
B | |
| 2203 | chr1 | 202015280 | C | CT |
c.1073_1074insT
|
p.Ser359LysfsTer112
|
- | 3.5 |
|
B | |
| 21479 | chr1 | 202015282 | A | G |
c.1075A>G
|
p.Ser359Gly
|
- | 3.0 |
|
B | |
| 4407 | chr1 | 202333530 | G | A |
c.205C>T
|
p.Arg69Ter
|
3.0 |
|
B | ||
| 11265 | chr1 | 202438061 | GT | G |
c.1458+47del
|
-
|
3.0 |
|
B | ||
| 3517 | chr1 | 203217850 | G | A |
c.1045C>T
|
p.Gln349Ter
|
- | 3.0 |
|
B | |
| 31121 | chr1 | 204424929 | G | A |
c.4828C>T
|
p.Arg1610Cys
|
3.0 |
|
B | ||
| 4240 | chr1 | 204430044 | G | A |
c.4281-6C>T
|
-
|
3.0 |
|
B | ||
| 12104 | chr1 | 204431659 | G | A |
c.4280+10C>T
|
-
|
3.0 |
|
B | ||
| 113 | chr1 | 204433397 | G | C |
c.3872C>G
|
p.Ser1291Ter
|
- | 3.67 |
|
A | |
| 29882 | chr1 | 204433445 | G | C |
c.3844-20C>G
|
-
|
3.0 |
|
B | ||
| 14175 | chr1 | 204439063 | C | T |
c.3388G>A
|
p.Glu1130Lys
|
- | 3.0 |
|
B | |
| 28306 | chr1 | 204442528 | T | A |
c.3154A>T
|
p.Arg1052Trp
|
- | 3.0 |
|
B | |
| 13411 | chr1 | 204444350 | T | TA |
c.2752dup
|
p.Tyr918LeufsTer12
|
- | 3.0 |
|
B |