Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 19511 | chr1 | 116403963 | C | T |
c.3031C>T
|
p.Arg1011Ter
|
- | 4.0 |
|
B | |
| 3279 | chr1 | 117121094 | G | T |
c.108C>A
|
p.Phe36Leu
|
- | 3.0 |
|
B | |
| 3280 | chr1 | 117121095 | A | C |
c.107T>G
|
p.Phe36Cys
|
- | 3.0 |
|
B | |
| 5395 | chr1 | 117156592 | G | A |
c.427C>T
|
p.Leu143Phe
|
- | 3.0 |
|
B | |
| 20888 | chr1 | 117156871 | C | T |
c.148G>A
|
p.Glu50Lys
|
3.0 |
|
B | ||
| 26051 | chr1 | 117156939 | A | G |
c.98-18T>C
|
-
|
- | 3.0 |
|
B | |
| 27970 | chr1 | 117173189 | C | T |
c.33-3018G>A
|
-
|
3.0 |
|
B | ||
| 860 | chr1 | 117623383 | C | T |
c.515C>T
|
p.Ser172Phe
|
- | 3.0 |
|
B | |
| 28736 | chr1 | 117623796 | C | T |
c.928C>T
|
p.Leu310Phe
|
- | 3.0 |
|
B | |
| 31490 | chr1 | 117623800 | G | A |
c.932G>A
|
p.Arg311His
|
3.0 |
|
B | ||
| 7428 | chr1 | 119507538 | G | A |
c.62G>A
|
p.Arg21His
|
3.0 |
|
B | ||
| 22709 | chr1 | 119507573 | A | G |
c.97A>G
|
p.Arg33Gly
|
3.0 |
|
B | ||
| 31947 | chr1 | 119507588 | G | C |
c.112G>C
|
p.Ala38Pro
|
- | 3.0 |
|
B | |
| 28570 | chr1 | 119511569 | G | C |
c.212G>C
|
p.Arg71Thr
|
3.0 |
|
B | ||
| 32485 | chr1 | 119511587 | C | T |
c.230C>T
|
p.Ser77Leu
|
3.0 |
|
B | ||
| 13534 | chr1 | 119511608 | GTATCATTGA | G |
c.253_261del
|
p.Ile85_Asp87del
|
- | 3.0 |
|
B | |
| 8513 | chr1 | 119513953 | G | A |
c.430G>A
|
p.Glu144Lys
|
3.0 |
|
B | ||
| 27548 | chr1 | 119514026 | C | T |
c.503C>T
|
p.Ala168Val
|
3.0 |
|
B | ||
| 18485 | chr1 | 119514099 | G | A |
c.576G>A
|
p.Gly192=
|
3.0 |
|
B | ||
| 10634 | chr1 | 119514133 | G | T |
c.610G>T
|
p.Glu204Ter
|
- | 3.0 |
|
B |