Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 2637 | chr11 | 118502848 | C | T |
c.6956C>T
|
p.Ser2319Leu
|
3.0 |
|
B | ||
| 18900 | chr11 | 118503473 | GAC | G |
c.7584_7585del
|
p.Pro2529SerfsTer6
|
- | 3.5 |
|
B | |
| 4925 | chr11 | 118503817 | C | T |
c.7925C>T
|
p.Ser2642Phe
|
- | 3.0 |
|
B | |
| 10399 | chr11 | 118503820 | A | G |
c.7928A>G
|
p.Tyr2643Cys
|
- | 3.0 |
|
B | |
| 17692 | chr11 | 118503897 | G | C |
c.8005G>C
|
p.Asp2669His
|
- | 3.0 |
|
B | |
| 6750 | chr11 | 118504024 | A | T |
c.8132A>T
|
p.Gln2711Leu
|
- | 3.0 |
|
B | |
| 30260 | chr11 | 118504301 | G | C |
c.8409G>C
|
p.Gln2803His
|
- | 3.0 |
|
B | |
| 13061 | chr11 | 118504354 | A | C |
c.8462A>C
|
p.Lys2821Thr
|
- | 3.0 |
|
B | |
| 10132 | chr11 | 118504365 | G | C |
c.8473G>C
|
p.Asp2825His
|
- | 3.0 |
|
B | |
| 22101 | chr11 | 118504396 | A | T |
c.8504A>T
|
p.Asp2835Val
|
- | 3.0 |
|
B | |
| 22664 | chr11 | 118504916 | T | G |
c.9024T>G
|
p.Ser3008=
|
- | 3.0 |
|
B | |
| 14431 | chr11 | 118505153 | CA | C |
c.9262del
|
p.Met3088CysfsTer14
|
- | 3.5 |
|
B | |
| 23920 | chr11 | 118505528 | C | CAT |
c.9637_9638insTA
|
p.Thr3213IlefsTer3
|
- | 4.0 |
|
B | |
| 23921 | chr11 | 118505530 | C | CCAT |
c.9638_9639insCAT
|
p.Thr3213_Val3214insIle
|
- | 3.0 |
|
B | |
| 719 | chr11 | 118505610 | T | TA |
c.9718_9719insA
|
p.Ser3240TyrfsTer2
|
- | 3.5 |
|
B | |
| 3835 | chr11 | 118505655 | A | G |
c.9763A>G
|
p.Met3255Val
|
3.0 |
|
B | ||
| 34616 | chr11 | 118505701 | G | A |
c.9809G>A
|
p.Ser3270Asn
|
- | 3.0 |
|
B | |
| 35539 | chr11 | 118505877 | C | T |
c.9985C>T
|
p.Leu3329Phe
|
- | 3.0 |
|
B | |
| 11886 | chr11 | 118505962 | G | A |
c.10070G>A
|
p.Ser3357Asn
|
- | 3.0 |
|
B | |
| 18803 | chr11 | 118506406 | C | T |
c.10514C>T
|
p.Ser3505Phe
|
- | 3.0 |
|
B |