Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 34654 | chr19 | 50409667 | GT | G |
c.2154+2del
|
p.?
|
- | 4.0 |
|
B | |
| 6000 | chr19 | 50413525 | GGGGGCTGCCCACCGCTGCCCTGAGATGGGCCCAGGGCA | G |
c.2250+7_2250+44del
|
-
|
- | 3.0 |
|
B | |
| 11776 | chr19 | 50413539 | G | A |
c.2250+18G>A
|
-
|
2.0 |
|
B | ||
| 712 | chr19 | 50414938 | C | T |
c.2512C>T
-
|
p.Pro838Ser
-
|
- | 3.0 |
|
B | |
| 30023 | chr19 | 50414941 | C | T |
c.2515C>T
-
|
p.Leu839Phe
-
|
- | 3.0 |
|
B | |
| 12446 | chr19 | 50414972 | G | A |
c.2546G>A
-
|
p.Arg849His
-
|
1.5 |
|
B | ||
| 29861 | chr19 | 50415429 | C | T |
c.2565-9C>T
-
|
-
-
|
2.0 |
|
B | ||
| 11357 | chr19 | 50415450 | C | T |
c.2577C>T
-
|
p.Gly859=
-
|
2.0 |
|
B | ||
| 6239 | chr19 | 50415452 | C | T |
c.2579C>T
-
|
p.Ala860Val
-
|
3.0 |
|
B | ||
| 32422 | chr19 | 50415611 | C | A |
c.2717+21C>A
-
|
-
-
|
- | 3.0 |
|
B | |
| 27660 | chr19 | 50415741 | C | A |
c.2735C>A
-
|
p.Pro912His
-
|
- | 3.0 |
|
B | |
| 16228 | chr19 | 50415777 | A | C |
c.2771A>C
-
|
p.Tyr924Ser
-
|
- | 3.0 |
|
B | |
| 21983 | chr19 | 50415787 | C | G |
c.2781C>G
-
|
p.Ile927Met
-
|
- | 3.5 |
|
B | |
| 19848 | chr19 | 50415808 | C | T |
c.2802C>T
-
|
p.Ala934=
-
|
2.0 |
|
B | ||
| 8870 | chr19 | 50415815 | A | C |
c.2809A>C
-
|
p.Met937Leu
-
|
- | 3.0 |
|
B | |
| 6073 | chr19 | 50415830 | A | G |
c.2820+4A>G
-
|
-
-
|
- | 3.5 |
|
B | |
| 19849 | chr19 | 50416608 | AG | A |
c.2959del
-
|
p.Asp987ThrfsTer58
-
|
3.5 |
|
B | ||
| 9599 | chr19 | 50416613 | G | T |
c.2957G>T
-
|
p.Gly986Val
-
|
- | 3.0 |
|
B | |
| 25774 | chr19 | 50417156 | C | T |
c.3121-16C>T
-
|
-
-
|
3.0 |
|
B | ||
| 8360 | chr19 | 50417187 | G | A |
c.3136G>A
-
|
p.Ala1046Thr
-
|
3.0 |
|
B |