Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 8191 | chr13 | 28308887 | T | C |
c.3676A>G
|
p.Lys1226Glu
|
- | 3.0 |
|
B | |
| 7707 | chr13 | 28308908 | A | G |
c.3655T>C
|
p.Phe1219Leu
|
- | 3.0 |
|
B | |
| 35522 | chr13 | 28308923 | C | T |
c.3640G>A
|
p.Val1214Ile
|
3.0 |
|
B | ||
| 15749 | chr13 | 28308930 | A | G |
c.3636-3T>C
|
-
|
- | 3.0 |
|
B | |
| 29508 | chr13 | 28311585 | C | G |
c.3635+5G>C
|
-
|
- | 3.0 |
|
B | |
| 17389 | chr13 | 28312098 | G | C |
c.3387C>G
|
p.Ile1129Met
|
- | 3.0 |
|
B | |
| 29720 | chr13 | 28317479 | G | T |
c.3386+19C>A
|
-
|
- | 3.0 |
|
B | |
| 12749 | chr13 | 28317591 | G | A |
c.3293C>T
|
p.Ser1098Phe
|
- | 3.0 |
|
B | |
| 14685 | chr13 | 28319426 | A | T |
c.3283T>A
|
p.Leu1095Ile
|
- | 3.0 |
|
B | |
| 18147 | chr13 | 28319452 | C | T |
c.3257G>A
|
p.Gly1086Glu
|
- | 3.0 |
|
B | |
| 35126 | chr13 | 28321447 | C | T |
c.3174+16G>A
|
-
|
3.0 |
|
B | ||
| 2551 | chr13 | 28321563 | G | A |
c.3074C>T
|
p.Ala1025Val
|
3.0 |
|
B | ||
| 30647 | chr13 | 28321576 | G | A |
c.3061C>T
|
p.Arg1021Trp
|
- | 3.0 |
|
B | |
| 6665 | chr13 | 28322300 | G | A |
c.3013C>T
|
p.Gln1005Ter
|
- | 3.0 |
|
B | |
| 28917 | chr13 | 28322775 | G | A |
c.2953+15C>T
|
-
|
- | 3.0 |
|
B | |
| 22518 | chr13 | 28322892 | G | T |
c.2851C>A
|
p.Gln951Lys
|
3.0 |
|
B | ||
| 14216 | chr13 | 28322916 | C | T |
c.2827G>A
|
p.Glu943Lys
|
3.0 |
|
B | ||
| 25842 | chr13 | 28327503 | T | A |
c.2755A>T
|
p.Asn919Tyr
|
- | 3.0 |
|
B | |
| 25002 | chr13 | 28329711 | C | CT |
c.2610_2611insA
|
p.Glu871ArgfsTer8
|
- | 3.0 |
|
B | |
| 5964 | chr13 | 28339216 | G | A |
c.2440C>T
|
p.Pro814Ser
|
3.0 |
|
B |