Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 18788 | chr7 | 92097631 | C | T |
c.10444C>T
|
p.Leu3482Phe
|
3.0 |
|
B | ||
| 34771 | chr7 | 92099800 | A | T |
c.10827A>T
|
p.Leu3609Phe
|
- | 3.0 |
|
B | |
| 9740 | chr7 | 92101006 | G | C |
c.11047G>C
|
p.Asp3683His
|
3.0 |
|
B | ||
| 12860 | chr7 | 92102787 | G | A |
c.11291G>A
|
p.Arg3764Lys
|
3.0 |
|
B | ||
| 1523 | chr7 | 92102824 | C | T |
c.11328C>T
|
p.Ser3776=
|
- | 3.0 |
|
B | |
| 20029 | chr7 | 92105695 | G | A |
c.11348G>A
|
p.Arg3783Gln
|
3.0 |
|
B | ||
| 23580 | chr7 | 92107241 | AAGGTCTTGGGATTTTATTTTTCTTTACAAGGAATATTTT | A |
c.11417-51_11417-13del
-
|
-
-
|
- | 3.0 |
|
B | |
| 13218 | chr7 | 92107328 | G | T |
c.11452G>T
-
|
p.Gly3818Cys
-
|
3.0 |
|
B | ||
| 6195 | chr7 | 92108525 | G | A |
c.11578G>A
-
|
p.Gly3860Ser
-
|
- | 3.0 |
|
B | |
| 9707 | chr7 | 92108557 | C | G |
c.11610C>G
-
|
p.Tyr3870Ter
-
|
3.0 |
|
B | ||
| 23865 | chr7 | 92108628 | A | T |
c.11681A>T
-
|
p.Gln3894Leu
-
|
3.0 |
|
B | ||
| 3657 | chr7 | 92447796 | G | A |
c.67G>A
|
p.Gly23Arg
|
- | 3.0 |
|
B | |
| 17452 | chr7 | 92623018 | A | G |
c.698+18T>C
|
-
|
- | 3.0 |
|
B | |
| 4238 | chr7 | 92623076 | G | A |
c.658C>T
|
p.Arg220Cys
|
3.0 |
|
B | ||
| 9741 | chr7 | 92671432 | C | T |
c.641G>A
|
p.Arg214His
|
3.0 |
|
B | ||
| 29748 | chr7 | 92671433 | G | A |
c.640C>T
|
p.Arg214Cys
|
- | 3.0 |
|
B | |
| 21930 | chr7 | 92725660 | C | T |
c.503G>A
|
p.Arg168His
|
3.0 |
|
B | ||
| 30128 | chr7 | 92833081 | C | T |
c.233+10G>A
|
-
|
- | 3.0 |
|
B | |
| 2073 | chr7 | 92833233 | G | A |
c.91C>T
|
p.Arg31Cys
|
- | 3.0 |
|
B | |
| 3401 | chr7 | 93460828 | C | T |
c.641G>A
|
p.Arg214Lys
|
3.0 |
|
B |