Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 15234 | chr17 | 59683155 | G | T |
c.3934G>T
|
p.Ala1312Ser
|
- | 3.0 |
|
B | |
| 15107 | chr17 | 59683507 | G | A |
c.4162G>A
|
p.Glu1388Lys
|
- | 3.0 |
|
B | |
| 10338 | chr17 | 59683640 | C | G |
c.4207C>G
|
p.Leu1403Val
|
- | 3.0 |
|
B | |
| 25853 | chr17 | 59683749 | T | G |
c.4316T>G
|
p.Phe1439Cys
|
- | 3.0 |
|
B | |
| 14147 | chr17 | 59683908 | C | T |
c.4357C>T
|
p.Arg1453Cys
|
3.0 |
|
B | ||
| 16834 | chr17 | 59685056 | G | A |
c.4435G>A
|
p.Ala1479Thr
|
- | 3.0 |
|
B | |
| 26916 | chr17 | 59685057 | C | T |
c.4436C>T
|
p.Ala1479Val
|
- | 3.0 |
|
B | |
| 9393 | chr17 | 59685230 | G | C |
c.4605+4G>C
|
-
|
- | 3.0 |
|
B | |
| 4468 | chr17 | 59685704 | G | A |
c.4723G>A
|
p.Asp1575Asn
|
- | 3.0 |
|
B | |
| 23924 | chr17 | 59685755 | A | C |
c.4774A>C
|
p.Met1592Leu
|
- | 3.0 |
|
B | |
| 13860 | chr17 | 59685763 | T | G |
c.4782T>G
|
p.Phe1594Leu
|
- | 3.0 |
|
B | |
| 21636 | chr17 | 59687021 | G | A |
c.4827+1213G>A
|
-
|
- | 3.0 |
|
B | |
| 35181 | chr17 | 59690719 | C | G |
c.4903+8C>G
|
-
|
2.0 |
|
B | ||
| 21175 | chr17 | 59693829 | C | G |
c.5005C>G
-
|
p.Pro1669Ala
-
|
3.0 |
|
B | ||
| 34783 | chr17 | 59893230 | T | G |
c.46T>G
-
|
p.Phe16Val
-
|
- | 3.0 |
|
B | |
| 17897 | chr17 | 59893248 | G | C |
c.64G>C
-
|
p.Glu22Gln
-
|
- | 3.0 |
|
B | |
| 33707 | chr17 | 59914631 | C | A |
c.313-4C>A
|
-
|
3.0 |
|
B | ||
| 29348 | chr17 | 59934441 | G | A |
c.787G>A
|
p.Glu263Lys
|
- | 3.0 |
|
B | |
| 22054 | chr17 | 59935284 | G | C |
c.962G>C
|
p.Arg321Thr
|
- | 3.0 |
|
B | |
| 34648 | chr17 | 59936207 | C | T |
c.979-8C>T
|
-
|
3.0 |
|
B |