Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 773 | chr17 | 31261777 | TC | T |
c.4646del
|
p.Pro1549GlnfsTer25
|
- | 4.0 |
|
B | |
| 29449 | chr17 | 31261854 | C | T |
c.4721C>T
|
p.Thr1574Ile
|
3.0 |
|
B | ||
| 27527 | chr17 | 31261856 | AG | A |
c.4724+1del
|
p.?
|
- | 4.0 |
|
B | |
| 2067 | chr17 | 31261859 | T | C |
c.4724+2T>C
|
p.?
|
- | 4.0 |
|
B | |
| 28771 | chr17 | 31261868 | A | G |
c.4724+11A>G
|
-
|
2.0 |
|
B | ||
| 4209 | chr17 | 31265222 | C | T |
c.4725-7C>T
|
-
|
3.0 |
|
B | ||
| 22132 | chr17 | 31265233 | C | T |
c.4729C>T
|
p.Gln1577Ter
|
4.5 |
|
B | ||
| 33125 | chr17 | 31265242 | GAAAAAGAAGAA | G |
c.4739_4749del
|
p.Glu1580ValfsTer38
|
- | 4.0 |
|
B | |
| 10923 | chr17 | 31265251 | G | T |
c.4747G>T
|
p.Glu1583Ter
|
4.0 |
|
B | ||
| 33126 | chr17 | 31265254 | TTC | T |
c.4751_4752del
|
p.Phe1584Ter
|
- | 4.0 |
|
B | |
| 28295 | chr17 | 31265300 | C | T |
c.4796C>T
|
p.Ser1599Phe
|
3.5 |
|
B | ||
| 35358 | chr17 | 31295758 | T | G |
c.4836-30062T>G
c.574A>C
|
-
p.Asn192His
|
- | 3.0 |
|
B | |
| 35359 | chr17 | 31304996 | G | T |
c.4836-20824G>T
c.614C>A
|
-
p.Ala205Asp
|
3.0 |
|
B | ||
| 26525 | chr17 | 31305502 | T | G |
c.4836-20318T>G
c.108A>C
|
-
p.Leu36Phe
|
- | 3.0 |
|
B | |
| 35360 | chr17 | 31318479 | T | G |
c.4836-7341T>G
-
c.535A>C
|
-
-
p.Ser179Arg
|
- | 3.0 |
|
B | |
| 28047 | chr17 | 31318730 | T | C |
c.4836-7090T>C
-
c.284A>G
|
-
-
p.Tyr95Cys
|
- | 3.0 |
|
B | |
| 28048 | chr17 | 31320512 | T | C |
c.4836-5308T>C
c.-11+983A>G
|
-
-
|
- | 3.0 |
|
B | |
| 33619 | chr17 | 31325808 | C | T |
c.4836-12C>T
-
|
-
-
|
2.0 |
|
B | ||
| 5594 | chr17 | 31325820 | G | T |
c.4836G>T
-
|
p.Arg1612Ser
-
|
3.5 |
|
B | ||
| 33620 | chr17 | 31325963 | C | T |
c.4979C>T
-
|
p.Ser1660Phe
-
|
3.0 |
|
B |