Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 18617 | chr22 | 36294199 | C | T |
c.3730G>A
|
p.Glu1244Lys
|
- | 3.0 |
|
B | |
| 8196 | chr22 | 36294972 | G | A |
c.3590C>T
|
p.Ala1197Val
|
- | 3.0 |
|
B | |
| 27306 | chr22 | 36295506 | T | G |
c.3484A>C
|
p.Arg1162=
|
- | 3.5 |
|
B | |
| 29817 | chr22 | 36297015 | C | CTGCAA |
c.3101-6_3101-2dup
|
p.?
|
- | 3.5 |
|
B | |
| 12335 | chr22 | 36299037 | C | G |
c.2982G>C
|
p.Lys994Asn
|
- | 3.0 |
|
B | |
| 8277 | chr22 | 36300255 | C | A |
c.2848G>T
|
p.Glu950Ter
|
- | 4.0 |
|
B | |
| 19181 | chr22 | 36300270 | G | A |
c.2839-6C>T
|
-
|
2.0 |
|
B | ||
| 7202 | chr22 | 36300886 | G | A |
c.2803C>T
|
p.Gln935Ter
|
- | 4.0 |
|
B | |
| 21993 | chr22 | 36300901 | GCTC | G |
c.2785_2787del
|
p.Glu929del
|
2.5 |
|
B | ||
| 22235 | chr22 | 36300975 | C | T |
c.2714G>A
|
p.Arg905His
|
2.5 |
|
B | ||
| 22639 | chr22 | 36301529 | C | T |
c.2631+5G>A
|
-
|
3.0 |
|
B | ||
| 28540 | chr22 | 36301674 | G | A |
c.2500-9C>T
|
-
|
2.5 |
|
B | ||
| 29784 | chr22 | 36302563 | C | T |
c.2499+5G>A
|
-
|
3.0 |
|
B | ||
| 30868 | chr22 | 36302642 | T | A |
c.2425A>T
|
p.Met809Leu
|
3.0 |
|
B | ||
| 7123 | chr22 | 36304002 | C | T |
c.2383G>A
|
p.Ala795Thr
|
- | 3.0 |
|
B | |
| 13906 | chr22 | 36305041 | C | T |
c.2221G>A
|
p.Val741Met
|
3.0 |
|
B | ||
| 17050 | chr22 | 36305062 | T | C |
c.2200A>G
|
p.Met734Val
|
- | 3.0 |
|
B | |
| 9754 | chr22 | 36305956 | C | A |
c.2133G>T
|
p.Arg711Ser
|
- | 3.0 |
|
B | |
| 21669 | chr22 | 36306428 | TG | T |
c.2022del
|
p.Asn675ThrfsTer50
|
- | 4.0 |
|
B | |
| 30029 | chr22 | 36306522 | G | C |
c.1929C>G
|
p.Phe643Leu
|
- | 3.0 |
|
B |