Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 27902 | chr1 | 152086498 | C | T |
c.1184G>A
|
p.Arg395Lys
|
- | 3.0 |
|
B | |
| 26864 | chr1 | 152086500 | C | A |
c.1182G>T
|
p.Arg394Ser
|
- | 3.0 |
|
B | |
| 6348 | chr1 | 152086505 | C | A |
c.1177G>T
|
p.Glu393Ter
|
- | 3.0 |
|
B | |
| 31236 | chr1 | 152086526 | C | G |
c.1156G>C
|
p.Asp386His
|
3.0 |
|
B | ||
| 6292 | chr1 | 152086736 | A | G |
c.946T>C
|
p.Ser316Pro
|
3.0 |
|
B | ||
| 1089 | chr1 | 152086738 | G | A |
c.944C>T
|
p.Pro315Leu
|
3.0 |
|
B | ||
| 15759 | chr1 | 152086798 | C | T |
c.884G>A
|
p.Arg295Lys
|
- | 3.0 |
|
B | |
| 23791 | chr1 | 152086894 | G | A |
c.788C>T
|
p.Ser263Leu
|
3.0 |
|
B | ||
| 7638 | chr1 | 152086961 | C | G |
c.721G>C
|
p.Glu241Gln
|
3.0 |
|
B | ||
| 10680 | chr1 | 152087011 | C | T |
c.671G>A
|
p.Arg224Lys
|
3.0 |
|
B | ||
| 14579 | chr1 | 152087150 | G | A |
c.532C>T
|
p.Pro178Ser
|
3.0 |
|
B | ||
| 27204 | chr1 | 152087426 | G | A |
c.256C>T
|
p.Leu86Phe
|
- | 3.0 |
|
B | |
| 9427 | chr1 | 152087514 | A | AT |
c.167dup
|
p.Asn56LysfsTer8
|
3.0 |
|
B | ||
| 30064 | chr1 | 152087527 | G | A |
c.155C>T
|
p.Ala52Val
|
- | 3.0 |
|
B | |
| 4624 | chr1 | 152223115 | C | T |
c.138+1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 847 | chr1 | 152308238 | C | G |
c.6648G>C
|
p.Trp2216Cys
|
3.0 |
|
B | ||
| 3608 | chr1 | 152355583 | G | A |
c.2203C>T
|
p.His735Tyr
|
3.0 |
|
B | ||
| 3298 | chr1 | 153419299 | G | A |
c.296G>A
|
p.Gly99Glu
|
3.0 |
|
B | ||
| 18354 | chr1 | 153543686 | GA | G |
-
c.*72del
-
|
-
-
-
|
1.5 |
|
B | ||
| 34680 | chr1 | 153776583 | G | A |
-
c.733G>A
|
-
p.Ala245Thr
|
- | 3.0 |
|
B |