Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 32477 | chr16 | 10908143 | G | A |
c.2651G>A
|
p.Arg884His
|
2.5 |
|
B | ||
| 26976 | chr16 | 10908963 | G | A |
c.2658-66G>A
|
-
|
- | 3.0 |
|
B | |
| 17378 | chr16 | 10909127 | C | T |
c.2756C>T
|
p.Pro919Leu
|
- | 3.0 |
|
B | |
| 20909 | chr16 | 10910204 | G | A |
c.2833G>A
|
p.Glu945Lys
|
- | 3.0 |
|
B | |
| 34213 | chr16 | 10910235 | G | T |
c.2864G>T
|
p.Arg955Leu
|
3.0 |
|
B | ||
| 18628 | chr16 | 10910279 | G | C |
c.2888+20G>C
|
-
|
- | 3.0 |
|
B | |
| 29001 | chr16 | 10922429 | G | A |
c.3256G>A
|
p.Ala1086Thr
|
- | 3.0 |
|
B | |
| 18887 | chr16 | 10922484 | C | T |
c.3311C>T
|
p.Thr1104Met
|
3.0 |
|
B | ||
| 24194 | chr16 | 11254842 | G | A |
c.*1C>T
|
-
|
- | 3.0 |
|
B | |
| 21768 | chr16 | 11255015 | A | G |
c.464T>C
|
p.Val155Ala
|
- | 3.0 |
|
B | |
| 10008 | chr16 | 11255329 | G | A |
c.150C>T
|
p.Pro50=
|
2.5 |
|
B | ||
| 7892 | chr16 | 11255342 | G | A |
c.137C>T
|
p.Pro46Leu
|
3.0 |
|
B | ||
| 4761 | chr16 | 11896558 | C | T |
c.664G>A
|
p.Asp222Asn
|
- | 3.0 |
|
B | |
| 35122 | chr16 | 11965391 | C | A |
c.67C>A
|
p.Pro23Thr
|
- | 3.0 |
|
B | |
| 25642 | chr16 | 11967552 | C | T |
c.278-18C>T
|
-
|
- | 3.0 |
|
B | |
| 26621 | chr16 | 11967662 | G | A |
c.370G>A
|
p.Glu124Lys
|
- | 3.0 |
|
B | |
| 30744 | chr16 | 11967743 | G | A |
c.451G>A
|
p.Glu151Lys
|
- | 3.0 |
|
B | |
| 32707 | chr16 | 11999302 | C | G |
c.13C>G
|
p.Gln5Glu
|
- | 3.0 |
|
B | |
| 24330 | chr16 | 12027300 | A | T |
c.123-20A>T
|
-
|
- | 3.0 |
|
B | |
| 34781 | chr16 | 12027313 | C | T |
c.123-7C>T
|
-
|
3.0 |
|
B |