Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 28523 | chr7 | 79007144 | C | T |
c.364G>A
|
p.Asp122Asn
|
- | 3.0 |
|
B | |
| 5938 | chr7 | 79007168 | A | C |
c.340T>G
|
p.Leu114Val
|
- | 3.0 |
|
B | |
| 6031 | chr7 | 79007193 | A | C |
c.315T>G
|
p.Asp105Glu
|
- | 3.0 |
|
B | |
| 26359 | chr7 | 79007214 | T | TA |
c.302-9dup
|
-
|
2.0 |
|
B | ||
| 7062 | chr7 | 79453008 | C | T |
c.301+12G>A
|
-
|
- | 3.0 |
|
B | |
| 27872 | chr7 | 79453235 | C | T |
c.86G>A
|
p.Gly29Asp
|
- | 3.0 |
|
B | |
| 11591 | chr7 | 79453250 | G | A |
c.71C>T
|
p.Pro24Leu
|
3.0 |
|
B | ||
| 11592 | chr7 | 79453251 | G | T |
c.70C>A
|
p.Pro24Thr
|
- | 3.0 |
|
B | |
| 11701 | chr7 | 80135148 | C | T |
c.-13C>T
|
-
|
3.0 |
|
B | ||
| 8589 | chr7 | 80135214 | G | A |
c.54G>A
|
p.Met18Ile
|
- | 3.0 |
|
B | |
| 30127 | chr7 | 80135260 | G | A |
c.100G>A
|
p.Val34Ile
|
- | 3.0 |
|
B | |
| 13800 | chr7 | 80188985 | G | T |
c.153G>T
|
p.Lys51Asn
|
- | 3.0 |
|
B | |
| 24203 | chr7 | 80189138 | A | AGCAGTGGTCTACAGTAACACCATCCAGTCAATTATTG |
c.211_247dup
|
p.Ala83GlyfsTer6
|
- | 3.0 |
|
B | |
| 4249 | chr7 | 80203701 | C | A |
c.462-3C>A
|
-
|
- | 3.0 |
|
B | |
| 26275 | chr7 | 80203727 | T | A |
c.485T>A
|
p.Ile162Lys
|
- | 3.0 |
|
B | |
| 10138 | chr7 | 80211015 | C | A |
c.637C>A
|
p.His213Asn
|
- | 3.0 |
|
B | |
| 12499 | chr7 | 80211098 | G | A |
c.720G>A
|
p.Met240Ile
|
- | 3.0 |
|
B | |
| 35046 | chr7 | 80212754 | A | G |
c.759A>G
|
p.Ile253Met
|
3.0 |
|
B | ||
| 31360 | chr7 | 80217320 | G | A |
c.892G>A
|
p.Glu298Lys
|
- | 3.0 |
|
B | |
| 22119 | chr7 | 80217380 | G | T |
c.952G>T
|
p.Glu318Ter
|
- | 3.0 |
|
B |