Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 2237 | chr12 | 98666229 | G | A |
c.1234G>A
|
p.Glu412Lys
|
- | 3.0 |
|
B | |
| 13062 | chr12 | 98671006 | A | T |
c.1528A>T
|
p.Ile510Phe
|
- | 3.0 |
|
B | |
| 34777 | chr12 | 98677448 | T | C |
c.1817T>C
|
p.Leu606Pro
|
- | 3.0 |
|
B | |
| 35246 | chr12 | 98686869 | T | G |
c.2300T>G
|
p.Leu767Ter
|
- | 3.0 |
|
B | |
| 8014 | chr12 | 98699392 | T | G |
c.2305-16T>G
|
-
|
- | 3.0 |
|
B | |
| 5502 | chr12 | 98703429 | C | T |
c.2525C>T
|
p.Thr842Ile
|
3.0 |
|
B | ||
| 28438 | chr12 | 98706591 | C | A |
c.2702C>A
|
p.Ser901Tyr
|
- | 3.0 |
|
B | |
| 26720 | chr12 | 98708580 | A | G |
c.2722-5A>G
|
-
|
- | 3.0 |
|
B | |
| 34622 | chr12 | 98712312 | T | C |
c.2842-7T>C
|
-
|
3.0 |
|
B | ||
| 6853 | chr12 | 98715544 | G | A |
c.3076G>A
|
p.Glu1026Lys
|
- | 3.0 |
|
B | |
| 7433 | chr12 | 98725475 | C | T |
c.3391C>T
|
p.Arg1131Cys
|
3.0 |
|
B | ||
| 13027 | chr12 | 98727222 | C | T |
c.3506C>T
|
p.Ser1169Leu
|
- | 3.0 |
|
B | |
| 2414 | chr12 | 98727300 | C | T |
c.3584C>T
|
p.Ala1195Val
|
3.0 |
|
B | ||
| 32043 | chr12 | 102402548 | C | A |
c.421G>T
|
p.Ala141Ser
|
3.0 |
|
B | ||
| 4140 | chr12 | 102417826 | C | T |
c.402+1683G>A
|
-
|
- | 3.0 |
|
B | |
| 25577 | chr12 | 102417844 | C | T |
c.402+1665G>A
|
-
|
3.0 |
|
B | ||
| 18325 | chr12 | 102417897 | T | C |
c.402+1612A>G
|
-
|
- | 3.0 |
|
B | |
| 23519 | chr12 | 102419509 | C | A |
c.402G>T
|
p.Lys134Asn
|
- | 3.0 |
|
B | |
| 23782 | chr12 | 102419595 | C | T |
c.316G>A
|
p.Glu106Lys
|
3.0 |
|
B | ||
| 8037 | chr12 | 102419618 | C | T |
c.293G>A
|
p.Arg98Gln
|
3.0 |
|
B |