Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 31497 | chr19 | 5212325 | G | C |
c.4769+12C>G
|
-
|
- | 3.0 |
|
B | |
| 655 | chr19 | 5212359 | C | T |
c.4747G>A
|
p.Gly1583Ser
|
3.0 |
|
B | ||
| 11154 | chr19 | 5212439 | G | A |
c.4667C>T
|
p.Pro1556Leu
|
3.0 |
|
B | ||
| 7997 | chr19 | 5212464 | G | A |
c.4642C>T
|
p.Arg1548Cys
|
3.0 |
|
B | ||
| 35696 | chr19 | 5212472 | C | T |
c.4634G>A
|
p.Arg1545His
|
3.0 |
|
B | ||
| 5311 | chr19 | 5214402 | C | T |
c.4573G>A
|
p.Glu1525Lys
|
3.0 |
|
B | ||
| 8909 | chr19 | 5214476 | T | G |
c.4499A>C
|
p.Lys1500Thr
|
- | 3.0 |
|
B | |
| 23201 | chr19 | 5214583 | G | A |
c.4472C>T
|
p.Thr1491Met
|
3.0 |
|
B | ||
| 2890 | chr19 | 5215282 | G | A |
c.4318+7C>T
|
-
|
2.0 |
|
B | ||
| 33932 | chr19 | 5215313 | G | A |
c.4294C>T
|
p.Arg1432Cys
|
- | 3.0 |
|
B | |
| 12031 | chr19 | 5215486 | G | A |
c.4194+12C>T
|
-
|
- | 3.0 |
|
B | |
| 33759 | chr19 | 5218793 | G | A |
c.3929C>T
|
p.Pro1310Leu
|
3.0 |
|
B | ||
| 31378 | chr19 | 5219300 | T | C |
c.3923+10A>G
|
-
|
- | 3.0 |
|
B | |
| 23202 | chr19 | 5219919 | G | A |
c.3765+20C>T
|
-
|
3.0 |
|
B | ||
| 34869 | chr19 | 5220034 | C | T |
c.3670G>A
|
p.Asp1224Asn
|
3.0 |
|
B | ||
| 13744 | chr19 | 5220088 | G | A |
c.3616C>T
|
p.Arg1206Trp
|
3.0 |
|
B | ||
| 12211 | chr19 | 5220120 | C | T |
c.3584G>A
|
p.Ser1195Asn
|
- | 3.0 |
|
B | |
| 28202 | chr19 | 5220136 | G | A |
c.3568C>T
|
p.Arg1190Trp
|
3.0 |
|
B | ||
| 23826 | chr19 | 5220173 | G | A |
c.3550-19C>T
|
-
|
- | 3.0 |
|
B | |
| 16843 | chr19 | 5221111 | G | A |
c.3344C>T
|
p.Ala1115Val
|
- | 3.0 |
|
B |