Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 23317 | chr17 | 7673787 | G | C |
c.833C>G
|
p.Pro278Arg
|
3.5 |
|
B | ||
| 3112 | chr17 | 7673788 | G | A |
c.832C>T
|
p.Pro278Ser
|
4.0 |
|
B | ||
| 11168 | chr17 | 7673788 | G | C |
c.832C>G
|
p.Pro278Ala
|
4.0 |
|
B | ||
| 27587 | chr17 | 7673788 | G | T |
c.832C>A
|
p.Pro278Thr
|
4.0 |
|
B | ||
| 13225 | chr17 | 7673790 | C | A |
c.830G>T
|
p.Cys277Phe
|
4.0 |
|
B | ||
| 11927 | chr17 | 7673791 | A | C |
c.829T>G
|
p.Cys277Gly
|
3.5 |
|
B | ||
| 14490 | chr17 | 7673793 | G | GCACAA |
c.822_826dup
|
p.Ala276ValfsTer71
|
- | 4.0 |
|
B | |
| 3173 | chr17 | 7673796 | C | A |
c.824G>T
|
p.Cys275Phe
|
4.0 |
|
B | ||
| 2066 | chr17 | 7673796 | C | T |
c.824G>A
|
p.Cys275Tyr
|
4.0 |
|
B | ||
| 34139 | chr17 | 7673798 | AAC | A |
c.820_821del
|
p.Val274LeufsTer31
|
4.5 |
|
B | ||
| 3588 | chr17 | 7673799 | A | G |
c.821T>C
|
p.Val274Ala
|
4.0 |
|
B | ||
| 23200 | chr17 | 7673800 | C | A |
c.820G>T
|
p.Val274Phe
|
4.0 |
|
B | ||
| 8200 | chr17 | 7673802 | C | A |
c.818G>T
|
p.Arg273Leu
|
4.0 |
|
B | ||
| 9261 | chr17 | 7673802 | C | G |
c.818G>C
|
p.Arg273Pro
|
3.5 |
|
B | ||
| 968 | chr17 | 7673802 | C | T |
c.818G>A
|
p.Arg273His
|
4.0 |
|
B | ||
| 635 | chr17 | 7673803 | G | A |
c.817C>T
|
p.Arg273Cys
|
4.0 |
|
B | ||
| 23795 | chr17 | 7673805 | A | C |
c.815T>G
|
p.Val272Gly
|
4.0 |
|
B | ||
| 2110 | chr17 | 7673805 | A | T |
c.815T>A
|
p.Val272Glu
|
3.5 |
|
B | ||
| 8790 | chr17 | 7673806 | C | A |
c.814G>T
|
p.Val272Leu
|
4.0 |
|
B | ||
| 16 | chr17 | 7673806 | C | T |
c.814G>A
|
p.Val272Met
|
4.33 |
|
A |