Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 30696 | chr7 | 152150934 | G | T |
c.12740C>A
|
p.Ser4247Ter
|
- | 4.5 |
|
B | |
| 21396 | chr7 | 152151551 | C | G |
c.12557G>C
|
p.Gly4186Ala
|
- | 3.0 |
|
B | |
| 7546 | chr7 | 152151566 | T | C |
c.12542A>G
|
p.Lys4181Arg
|
- | 3.0 |
|
B | |
| 31277 | chr7 | 152152782 | C | T |
c.12449G>A
|
p.Gly4150Glu
|
- | 3.0 |
|
B | |
| 20837 | chr7 | 152152863 | G | A |
c.12368C>T
|
p.Ser4123Phe
|
- | 3.0 |
|
B | |
| 9903 | chr7 | 152152939 | C | A |
c.12292G>T
|
p.Val4098Leu
|
- | 3.0 |
|
B | |
| 15190 | chr7 | 152154134 | C | T |
c.12152G>A
|
p.Arg4051Lys
|
3.0 |
|
B | ||
| 11373 | chr7 | 152154160 | GA | G |
c.12140-15del
|
-
|
3.0 |
|
B | ||
| 19499 | chr7 | 152154423 | G | A |
c.11983C>T
|
p.Arg3995Ter
|
4.0 |
|
B | ||
| 7820 | chr7 | 152156295 | G | C |
c.11722C>G
|
p.Pro3908Ala
|
- | 3.0 |
|
B | |
| 29775 | chr7 | 152156330 | T | C |
c.11687A>G
|
p.Asn3896Ser
|
- | 3.0 |
|
B | |
| 32130 | chr7 | 152157914 | CAG | C |
c.11670+947_11670+948del
|
-
|
- | 3.5 |
|
B | |
| 11374 | chr7 | 152157930 | TA | T |
c.11670+932del
|
-
|
- | 3.0 |
|
B | |
| 7948 | chr7 | 152158880 | A | T |
c.11653T>A
|
p.Phe3885Ile
|
- | 3.0 |
|
B | |
| 14093 | chr7 | 152158939 | G | A |
c.11594C>T
|
p.Ser3865Leu
|
- | 3.5 |
|
B | |
| 1435 | chr7 | 152158943 | G | A |
c.11590C>T
|
p.Arg3864Cys
|
2.5 |
|
B | ||
| 26114 | chr7 | 152159014 | G | GT |
c.11518dup
|
p.Thr3840AsnfsTer6
|
- | 4.0 |
|
B | |
| 20013 | chr7 | 152159039 | C | CA |
c.11493dup
|
p.Gly3832TrpfsTer14
|
- | 4.0 |
|
B | |
| 19160 | chr7 | 152162262 | G | C |
c.11315C>G
|
p.Ser3772Ter
|
- | 4.0 |
|
B | |
| 7250 | chr7 | 152162560 | C | T |
c.11017G>A
|
p.Ala3673Thr
|
- | 3.0 |
|
B |