Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 5919 | chr19 | 45352555 | C | T |
c.1997G>A
-
|
p.Arg666Gln
-
|
3.0 |
|
B | ||
| 10109 | chr19 | 45352559 | CCA | C |
c.1991_1992del
-
|
p.Val664GlyfsTer109
-
|
4.0 |
|
B | ||
| 30026 | chr19 | 45352566 | C | A |
c.1986G>T
-
|
p.Gln662His
-
|
- | 3.0 |
|
B | |
| 20824 | chr19 | 45352824 | G | A |
c.1832-8C>T
-
|
-
-
|
- | 3.0 |
|
B | |
| 5024 | chr19 | 45353339 | G | A |
c.1666-5C>T
-
|
-
-
|
4.0 |
|
B | ||
| 9320 | chr19 | 45355664 | C | T |
c.1543+1G>A
-
|
p.?
-
|
- | 4.0 |
|
B | |
| 5429 | chr19 | 45355722 | C | T |
c.1486G>A
-
|
p.Gly496Ser
-
|
3.0 |
|
B | ||
| 22403 | chr19 | 45357465 | G | A |
c.1377+9C>T
|
-
|
2.5 |
|
B | ||
| 28595 | chr19 | 45357519 | G | C |
c.1332C>G
|
p.Ile444Met
|
- | 3.5 |
|
B | |
| 13101 | chr19 | 45357554 | A | T |
c.1308-11T>A
|
-
|
- | 3.0 |
|
B | |
| 26236 | chr19 | 45357678 | G | A |
c.1259C>T
|
p.Pro420Leu
|
- | 3.0 |
|
B | |
| 19275 | chr19 | 45357708 | G | A |
c.1238-9C>T
|
-
|
2.5 |
|
B | ||
| 23345 | chr19 | 45361507 | G | A |
c.1237+17C>T
|
-
|
- | 3.0 |
|
B | |
| 9523 | chr19 | 45361619 | G | A |
c.1142C>T
|
p.Ser381Phe
|
- | 3.0 |
|
B | |
| 26436 | chr19 | 45361662 | G | A |
c.1119-20C>T
|
-
|
- | 3.0 |
|
B | |
| 19030 | chr19 | 45363869 | C | T |
c.992G>A
|
p.Gly331Asp
|
- | 3.0 |
|
B | |
| 13102 | chr19 | 45363929 | C | G |
c.950-18G>C
|
-
|
2.5 |
|
B | ||
| 11010 | chr19 | 45364001 | C | T |
c.934G>A
|
p.Asp312Asn
|
1.0 |
|
B | ||
| 33862 | chr19 | 45364028 | C | T |
c.907G>A
|
p.Ala303Thr
|
- | 3.0 |
|
B | |
| 11370 | chr19 | 45364124 | G | A |
c.816-5C>T
|
-
|
2.5 |
|
B |