Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 13152 | chr11 | 92883012 | C | T |
c.12556C>T
|
p.Arg4186Cys
|
- | 3.0 |
|
B | |
| 11511 | chr11 | 92883013 | G | A |
c.12557G>A
|
p.Arg4186His
|
3.0 |
|
B | ||
| 29407 | chr11 | 92883051 | G | A |
c.12595G>A
|
p.Ala4199Thr
|
3.0 |
|
B | ||
| 6036 | chr11 | 92883061 | A | C |
c.12605A>C
|
p.Asn4202Thr
|
- | 3.0 |
|
B | |
| 34689 | chr11 | 92883094 | G | A |
c.12638G>A
|
p.Arg4213His
|
3.0 |
|
B | ||
| 12191 | chr11 | 92883103 | G | A |
c.12647G>A
|
p.Gly4216Glu
|
- | 3.0 |
|
B | |
| 23614 | chr11 | 92883139 | C | T |
c.12683C>T
|
p.Pro4228Leu
|
3.0 |
|
B | ||
| 20681 | chr11 | 92883143 | G | T |
c.12687G>T
|
p.Gln4229His
|
- | 3.0 |
|
B | |
| 1793 | chr11 | 92883265 | C | T |
c.12809C>T
|
p.Ser4270Leu
|
- | 3.0 |
|
B | |
| 17843 | chr11 | 92883348 | G | A |
c.12892G>A
|
p.Asp4298Asn
|
3.0 |
|
B | ||
| 6401 | chr11 | 92887093 | C | T |
c.13031C>T
|
p.Ser4344Leu
|
3.0 |
|
B | ||
| 16786 | chr11 | 92889177 | C | T |
c.13052-12C>T
|
-
|
- | 3.0 |
|
B | |
| 6104 | chr11 | 92889212 | C | T |
c.13075C>T
|
p.Leu4359Phe
|
- | 3.0 |
|
B | |
| 18139 | chr11 | 92889886 | A | G |
c.13142A>G
|
p.Asn4381Ser
|
3.0 |
|
B | ||
| 12828 | chr11 | 92890516 | G | A |
-
|
-
|
-
|
- | 3.0 |
|
B |
| 6054 | chr11 | 92890526 | G | A |
c.13183G>A
|
p.Ala4395Thr
|
- | 3.0 |
|
B | |
| 7243 | chr11 | 92890601 | C | T |
c.13258C>T
|
p.Arg4420Trp
|
3.0 |
|
B | ||
| 14345 | chr11 | 92890613 | A | G |
c.13270A>G
|
p.Ser4424Gly
|
- | 3.0 |
|
B | |
| 2282 | chr11 | 92890616 | G | A |
c.13273G>A
|
p.Asp4425Asn
|
3.0 |
|
B | ||
| 32379 | chr11 | 92890709 | C | T |
c.13366C>T
|
p.Pro4456Ser
|
- | 3.0 |
|
B |